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# | Reference Title | Reference Citation |
1. | Fetal adrenal gland alterations in a rat model of adverse intrauterine environment. | Bibeau K, etal., Am J Physiol Regul Integr Comp Physiol. 2010 Apr;298(4):R899-911. Epub 2009 Nov 18. |
2. | Linkage of 11 beta-hydroxylase mutations with altered steroid biosynthesis and blood pressure in the Dahl rat. | Cicila GT, etal., Nat Genet 1993 Apr;3(4):346-53. |
3. | Quantitative assessment of CYP11B1 and CYP11B2 expression in aldosterone-producing adenomas. | Fallo F, etal., Eur J Endocrinol. 2002 Dec;147(6):795-802. |
4. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
5. | Aldosterone synthesis in the brain contributes to Dahl salt-sensitive rat hypertension. | Gomez-Sanchez EP, etal., Exp Physiol. 2010 Jan;95(1):120-30. Epub 2009 Oct 16. |
6. | Frame shift by insertion of 2 basepairs in codon 394 of CYP11B1 causes congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency. | Helmberg A, etal., J Clin Endocrinol Metab 1992 Nov;75(5):1278-81. |
7. | KEGG: Kyoto Encyclopedia of Genes and Genomes | KEGG |
8. | A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. | Lifton RP, etal., Nature. 1992 Jan 16;355(6357):262-5. |
9. | Cardiac steroidogenesis and glucocorticoid in the development of cardiac hypertrophy during the progression to heart failure. | Ohtani T, etal., J Hypertens. 2009 May;27(5):1074-83. |
10. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
11. | Overview of steroidogenic enzymes in the pathway from cholesterol to active steroid hormones. | Payne AH and Hales DB, Endocr Rev. 2004 Dec;25(6):947-70. |
12. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
13. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
14. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
15. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
16. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
17. | Single strand conformation polymorphism (SSCP) analysis for the detection of mutations in the CYP11B1 gene. | Skinner CA, etal., J Clin Endocrinol Metab. 1996 Jun;81(6):2389-93. |
PMID:1303253 | PMID:1518866 | PMID:1741400 | PMID:2022736 | PMID:2256920 | PMID:2401360 | PMID:2592361 | PMID:3499608 | PMID:7903314 | PMID:8372604 | PMID:8506298 | PMID:9302260 |
PMID:10391209 | PMID:10391210 | PMID:10411633 | PMID:10599751 | PMID:11095433 | PMID:11549669 | PMID:11549691 | PMID:11675945 | PMID:11903322 | PMID:11932209 | PMID:12452430 | PMID:12477932 |
PMID:14682466 | PMID:14702039 | PMID:15026188 | PMID:15062555 | PMID:15128046 | PMID:15324322 | PMID:15507509 | PMID:15522937 | PMID:15699546 | PMID:15751602 | PMID:15755848 | PMID:15793791 |
PMID:16030166 | PMID:16110193 | PMID:16114325 | PMID:16396990 | PMID:16984984 | PMID:17075029 | PMID:17121536 | PMID:17296872 | PMID:17556864 | PMID:17651452 | PMID:17980006 | PMID:18215163 |
PMID:18294861 | PMID:18397978 | PMID:18636124 | PMID:18661760 | PMID:18663314 | PMID:18974272 | PMID:19082699 | PMID:19336370 | PMID:19342457 | PMID:19453261 | PMID:19490893 | PMID:19567537 |
PMID:19598235 | PMID:19820005 | PMID:19844114 | PMID:19913121 | PMID:20089618 | PMID:20214802 | PMID:20331679 | PMID:20339375 | PMID:20486282 | PMID:20523022 | PMID:20529578 | PMID:20628086 |
PMID:20634641 | PMID:20708777 | PMID:20808686 | PMID:20877624 | PMID:20947076 | PMID:21164264 | PMID:21625068 | PMID:21848792 | PMID:21873635 | PMID:22083159 | PMID:22217843 | PMID:22921894 |
PMID:22964742 | PMID:23146819 | PMID:23150505 | PMID:23345044 | PMID:23825130 | PMID:24022297 | PMID:24536089 | PMID:24837548 | PMID:25100385 | PMID:25911436 | PMID:25913739 | PMID:26066897 |
PMID:26476331 | PMID:26806323 | PMID:26956189 | PMID:27376426 | PMID:27376433 | PMID:28228528 | PMID:28355486 | PMID:28514642 | PMID:28894201 | PMID:28962970 | PMID:29626607 | PMID:29703198 |
PMID:29734384 | PMID:30242600 | PMID:30425102 | PMID:31586073 | PMID:31982514 | PMID:32687482 | PMID:33245660 | PMID:33271253 | PMID:34743356 | PMID:34754074 | PMID:34800366 | PMID:34821221 |
PMID:35012455 | PMID:35831903 | PMID:36929050 | PMID:37486441 | PMID:38285409 | PMID:38858218 |
CYP11B1 (Homo sapiens - human) |
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Cyp11b2 (Rattus norvegicus - Norway rat) |
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CYP11B1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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CYP11B1 (Chlorocebus sabaeus - green monkey) |
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.
Variants in CYP11B1
738 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_000497.4(CYP11B1):c.75C>A (p.Gly25=) | single nucleotide variant | not provided [RCV001494549] | Chr8:142879739 [GRCh38] Chr8:143961155 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1266C>T (p.Arg422=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002496996]|not provided [RCV000516859] | Chr8:142875089 [GRCh38] Chr8:143956505 [GRCh37] Chr8:8q24.3 |
benign|likely benign |
NM_000497.4(CYP11B1):c.617G>T (p.Gly206Val) | single nucleotide variant | Glucocorticoid-remediable aldosteronism [RCV003989549]|not specified [RCV000517090] | Chr8:142876864 [GRCh38] Chr8:143958280 [GRCh37] Chr8:8q24.3 |
likely pathogenic|uncertain significance |
NM_000497.4(CYP11B1):c.1181del (p.Asn394fs) | deletion | CYP11B1-related disorder [RCV003403212]|Deficiency of steroid 11-beta-monooxygenase [RCV000668755]|Deficiency of steroid 11-beta-monooxygenase [RCV002481670]|not provided [RCV000518608] | Chr8:142875253 [GRCh38] Chr8:143956669 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.1003A>G (p.Asn335Asp) | single nucleotide variant | Congenital adrenal hyperplasia [RCV000029633]|Deficiency of steroid 11-beta-monooxygenase [RCV001095249]|Glucocorticoid-remediable aldosteronism [RCV000271806]|not provided [RCV000874647]|not specified [RCV000518202] | Chr8:142875830 [GRCh38] Chr8:143957246 [GRCh37] Chr8:8q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000497.4(CYP11B1):c.1015G>A (p.Ala339Thr) | single nucleotide variant | Congenital adrenal hyperplasia [RCV000029634]|Deficiency of steroid 11-beta-monooxygenase [RCV002477017]|Inborn genetic diseases [RCV004018684]|not specified [RCV000516792] | Chr8:142875818 [GRCh38] Chr8:143957234 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1015_1016delinsAT (p.Ala339Ile) | indel | Congenital adrenal hyperplasia [RCV000029635]|Deficiency of steroid 11-beta-monooxygenase [RCV002482914] | Chr8:142875817..142875818 [GRCh38] Chr8:143957233..143957234 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1016C>T (p.Ala339Val) | single nucleotide variant | Congenital adrenal hyperplasia [RCV000029636]|Inborn genetic diseases [RCV002513246] | Chr8:142875817 [GRCh38] Chr8:143957233 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1120C>A (p.Arg374=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000029637]|Deficiency of steroid 11-beta-monooxygenase [RCV002477018]|Glucocorticoid-remediable aldosteronism [RCV000397180]|not provided [RCV000711393]|not specified [RCV000454869] | Chr8:142875713 [GRCh38] Chr8:143957129 [GRCh37] Chr8:8q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000497.4(CYP11B1):c.1120C>T (p.Arg374Trp) | single nucleotide variant | Congenital adrenal hyperplasia [RCV000029638]|Deficiency of steroid 11-beta-monooxygenase [RCV002250464]|Deficiency of steroid 11-beta-monooxygenase [RCV002496449]|not provided [RCV004767021] | Chr8:142875713 [GRCh38] Chr8:143957129 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
NM_000497.4(CYP11B1):c.1122-12C>T | single nucleotide variant | Congenital adrenal hyperplasia [RCV000029639]|not provided [RCV003546459] | Chr8:142875324 [GRCh38] Chr8:143956740 [GRCh37] Chr8:8q24.3 |
likely benign|uncertain significance |
NM_000497.4(CYP11B1):c.1122-20A>G | single nucleotide variant | Congenital adrenal hyperplasia [RCV000029640]|Deficiency of steroid 11-beta-monooxygenase [RCV001250135]|not provided [RCV000711394] | Chr8:142875332 [GRCh38] Chr8:143956748 [GRCh37] Chr8:8q24.3 |
benign|likely benign|uncertain significance |
NM_000497.4(CYP11B1):c.1144C>T (p.Leu382=) | single nucleotide variant | Congenital adrenal hyperplasia [RCV000029641]|Deficiency of steroid 11-beta-monooxygenase [RCV001095138]|Glucocorticoid-remediable aldosteronism [RCV000291528]|not provided [RCV000874744] | Chr8:142875290 [GRCh38] Chr8:143956706 [GRCh37] Chr8:8q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000497.4(CYP11B1):c.125C>T (p.Pro42Leu) | single nucleotide variant | Congenital adrenal hyperplasia [RCV000029643]|Deficiency of steroid 11-beta-monooxygenase [RCV002482915]|Deficiency of steroid 11-beta-monooxygenase [RCV003460492]|not provided [RCV001852593] | Chr8:142879689 [GRCh38] Chr8:143961105 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.243C>T (p.Tyr81=) | single nucleotide variant | Congenital adrenal hyperplasia [RCV000029644]|Deficiency of steroid 11-beta-monooxygenase [RCV001095256]|Glucocorticoid-remediable aldosteronism [RCV000398212]|not provided [RCV000874015] | Chr8:142879184 [GRCh38] Chr8:143960600 [GRCh37] Chr8:8q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000497.4(CYP11B1):c.264G>A (p.Met88Ile) | single nucleotide variant | Congenital adrenal hyperplasia [RCV000029645] | Chr8:142879163 [GRCh38] Chr8:143960579 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.413G>A (p.Arg138His) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001158699]|Glucocorticoid-remediable aldosteronism [RCV001165427]|not provided [RCV003565385]|not specified [RCV004700284] | Chr8:142877205 [GRCh38] Chr8:143958621 [GRCh37] Chr8:8q24.3 |
likely pathogenic|uncertain significance|no classifications from unflagged records |
NM_000497.4(CYP11B1):c.799+2T>C | single nucleotide variant | Congenital adrenal hyperplasia [RCV000029648] | Chr8:142876680 [GRCh38] Chr8:143958096 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.799+5G>C | single nucleotide variant | CYP11B1-related disorder [RCV003952372]|Congenital adrenal hyperplasia [RCV000029649]|Deficiency of steroid 11-beta-monooxygenase [RCV000665430]|Deficiency of steroid 11-beta-monooxygenase [RCV002504827]|not provided [RCV000517998] | Chr8:142876677 [GRCh38] Chr8:143958093 [GRCh37] Chr8:8q24.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His) | single nucleotide variant | CYP11B1-related disorder [RCV004751188]|Deficiency of steroid 11-beta-monooxygenase [RCV000001230]|Deficiency of steroid 11-beta-monooxygenase [RCV002496223]|Glucocorticoid-remediable aldosteronism [RCV001199200]|not provided [RCV000791917] | Chr8:142875012 [GRCh38] Chr8:143956428 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
NC_000008.11:g.(142876886_142877022)_(142914909_142915045)dup | duplication | Glucocorticoid-remediable aldosteronism [RCV000001231] | Chr8:142877022..142914909 [GRCh38] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.953C>T (p.Thr318Met) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000001232]|Deficiency of steroid 11-beta-monooxygenase [RCV002504733]|not provided [RCV001066246] | Chr8:142876242 [GRCh38] Chr8:143957658 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.1121G>A (p.Arg374Gln) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000001233]|not provided [RCV001851528] | Chr8:142875712 [GRCh38] Chr8:143957128 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
CYP11B1, 2-BP INS | insertion | Deficiency of steroid 11-beta-monooxygenase [RCV000001234] | Chr8:8q21 | pathogenic |
NM_000497.4(CYP11B1):c.347G>A (p.Trp116Ter) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000001235] | Chr8:142879080 [GRCh38] Chr8:143960496 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.397A>C (p.Asn133His) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000001236] | Chr8:142877221 [GRCh38] Chr8:143958637 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000001237]|Deficiency of steroid 11-beta-monooxygenase [RCV002496224]|Glucocorticoid-remediable aldosteronism [RCV002247232]|not provided [RCV001781159] | Chr8:142875877 [GRCh38] Chr8:143957293 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser) | single nucleotide variant | Congenital adrenal hyperplasia [RCV000029642]|Deficiency of steroid 11-beta-monooxygenase [RCV000001238]|Deficiency of steroid 11-beta-monooxygenase [RCV002476907]|not provided [RCV001851529] | Chr8:142879690 [GRCh38] Chr8:143961106 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic|not provided |
CYP11B1, 954G-A | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000001239] | Chr8:8q21 | pathogenic |
NM_000497.4(CYP11B1):c.1398+4A>G | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000001240]|Deficiency of steroid 11-beta-monooxygenase [RCV002496225] | Chr8:142874953 [GRCh38] Chr8:143956369 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
NC_000008.11:g.(142876396_142876681)_(142914419_142914704)del | deletion | Deficiency of steroid 11-beta-monooxygenase [RCV000001241] | Chr8:142876681..142914419 [GRCh38] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.595+16G>T | single nucleotide variant | Congenital adrenal hyperplasia [RCV004585979]|Deficiency of steroid 11-beta-monooxygenase [RCV000001242] | Chr8:142877007 [GRCh38] Chr8:143958423 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
CYP11B1, CYP11B1/CYP11B2 CHIMERA | deletion | Deficiency of steroid 11-beta-monooxygenase [RCV000001243] | Chr8:8q21 | pathogenic |
NM_000497.4(CYP11B1):c.1269T>G (p.Tyr423Ter) | single nucleotide variant | CYP11B1-related disorder [RCV003415613]|Deficiency of steroid 11-beta-monooxygenase [RCV000001244]|not provided [RCV001851530] | Chr8:142875086 [GRCh38] Chr8:143956502 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu) | single nucleotide variant | Congenital adrenal hyperplasia [RCV000029646]|Deficiency of steroid 11-beta-monooxygenase [RCV000001245]|Deficiency of steroid 11-beta-monooxygenase [RCV002490289]|not provided [RCV000517938] | Chr8:142879146 [GRCh38] Chr8:143960562 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic|not provided |
NM_000497.4(CYP11B1):c.1103C>A (p.Ala368Asp) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000001246] | Chr8:142875730 [GRCh38] Chr8:143957146 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.954G>A (p.Thr318=) | single nucleotide variant | CYP11B1-related disorder [RCV004751577]|Congenital adrenal hyperplasia [RCV003387864]|Deficiency of steroid 11-beta-monooxygenase [RCV000667365]|not provided [RCV000516213] | Chr8:142876241 [GRCh38] Chr8:143957657 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
NM_000497.4(CYP11B1):c.50C>T (p.Ser17Phe) | single nucleotide variant | not provided [RCV002060237]|not specified [RCV000516509] | Chr8:142879764 [GRCh38] Chr8:143961180 [GRCh37] Chr8:8q24.3 |
likely benign|uncertain significance |
NM_000497.4(CYP11B1):c.702C>T (p.Thr234=) | single nucleotide variant | not provided [RCV001495029] | Chr8:142876779 [GRCh38] Chr8:143958195 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1066C>T (p.Gln356Ter) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000050222]|Deficiency of steroid 11-beta-monooxygenase [RCV000763178]|not provided [RCV000711392] | Chr8:142875767 [GRCh38] Chr8:143957183 [GRCh37] Chr8:8q24.3 |
pathogenic|not provided |
NM_000497.4(CYP11B1):c.427C>T (p.Arg143Trp) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000050223]|not provided [RCV001781383] | Chr8:142877191 [GRCh38] Chr8:143958607 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic|not provided |
NM_000497.4(CYP11B1):c.896T>C (p.Leu299Pro) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000050224]|not provided [RCV000991870] | Chr8:142876299 [GRCh38] Chr8:143957715 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic|not provided |
NM_000497.4(CYP11B1):c.917C>T (p.Ala306Val) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000050225]|not provided [RCV001239586] | Chr8:142876278 [GRCh38] Chr8:143957694 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic|not provided |
NM_000497.4(CYP11B1):c.928G>A (p.Glu310Lys) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000050226] | Chr8:142876267 [GRCh38] Chr8:143957683 [GRCh37] Chr8:8q24.3 |
not provided |
NM_000497.4(CYP11B1):c.995G>A (p.Arg332Gln) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000050227]|not provided [RCV001382848] | Chr8:142875838 [GRCh38] Chr8:143957254 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic|not provided |
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 | copy number gain | See cases [RCV000050830] | Chr8:128220912..145049449 [GRCh38] Chr8:129233158..146274835 [GRCh37] Chr8:129302340..146245639 [NCBI36] Chr8:8q24.21-24.3 |
pathogenic |
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 | copy number gain | See cases [RCV000050638] | Chr8:113580402..145054634 [GRCh38] Chr8:114592631..146280020 [GRCh37] Chr8:114661807..146250824 [NCBI36] Chr8:8q23.3-24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 | copy number gain | See cases [RCV000051206] | Chr8:241530..145049449 [GRCh38] Chr8:191530..146274835 [GRCh37] Chr8:181530..146245639 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] | Chr8:95606052..145054775 [GRCh38] Chr8:96618280..146280161 [GRCh37] Chr8:96687456..146250965 [NCBI36] Chr8:8q22.1-24.3 |
pathogenic |
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 | copy number gain | See cases [RCV000053678] | Chr8:124514090..145054634 [GRCh38] Chr8:125526331..146280020 [GRCh37] Chr8:125595512..146250824 [NCBI36] Chr8:8q24.13-24.3 |
pathogenic |
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] | Chr8:139447227..145054775 [GRCh38] Chr8:140459470..146280161 [GRCh37] Chr8:140528652..146250965 [NCBI36] Chr8:8q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 | copy number gain | See cases [RCV000053602] | Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] | Chr8:244417..145054775 [GRCh38] Chr8:194417..146280161 [GRCh37] Chr8:184417..146250965 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln) | single nucleotide variant | CYP11B1-related disorder [RCV003421968]|Deficiency of steroid 11-beta-monooxygenase [RCV000673573]|not provided [RCV000711402] | Chr8:142877196 [GRCh38] Chr8:143958612 [GRCh37] Chr8:143955614 [NCBI36] Chr8:8q24.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_000497.3(CYP11B1):c.396-536A>G | single nucleotide variant | Malignant melanoma [RCV000068192] | Chr8:142877758 [GRCh38] Chr8:143959174 [GRCh37] Chr8:143956176 [NCBI36] Chr8:8q24.3 |
not provided |
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 | copy number gain | See cases [RCV000134353] | Chr8:94682154..145068656 [GRCh38] Chr8:95694382..146294042 [GRCh37] Chr8:95763558..146264846 [NCBI36] Chr8:8q22.1-24.3 |
pathogenic |
GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1 | copy number loss | See cases [RCV000135981] | Chr8:142201468..144002730 [GRCh38] Chr8:143282829..145076898 [GRCh37] Chr8:143280736..145148886 [NCBI36] Chr8:8q24.3 |
pathogenic |
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 | copy number gain | See cases [RCV000137644] | Chr8:130639182..145068712 [GRCh38] Chr8:131651428..146294098 [GRCh37] Chr8:131720610..146264902 [NCBI36] Chr8:8q24.22-24.3 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 | copy number gain | See cases [RCV000137466] | Chr8:139236824..145068712 [GRCh38] Chr8:140249067..146294098 [GRCh37] Chr8:140318249..146264902 [NCBI36] Chr8:8q24.3 |
likely pathogenic |
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 | copy number gain | See cases [RCV000137340] | Chr8:139004218..145049449 [GRCh38] Chr8:140016461..146274835 [GRCh37] Chr8:140085643..146245639 [NCBI36] Chr8:8q24.3 |
likely pathogenic |
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 | copy number gain | See cases [RCV000137346] | Chr8:124498498..145068712 [GRCh38] Chr8:125510739..146294098 [GRCh37] Chr8:125579920..146264902 [NCBI36] Chr8:8q24.13-24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 | copy number gain | See cases [RCV000138643] | Chr8:241605..145054781 [GRCh38] Chr8:191605..146280167 [GRCh37] Chr8:181605..146250971 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 | copy number gain | See cases [RCV000138551] | Chr8:87931152..145068712 [GRCh38] Chr8:88943380..146294098 [GRCh37] Chr8:89012496..146264902 [NCBI36] Chr8:8q21.3-24.3 |
pathogenic |
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 | copy number gain | See cases [RCV000139036] | Chr8:77480050..145068712 [GRCh38] Chr8:78392286..146294098 [GRCh37] Chr8:78554841..146264902 [NCBI36] Chr8:8q21.13-24.3 |
pathogenic |
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 | copy number gain | See cases [RCV000140447] | Chr8:97382873..145070385 [GRCh38] Chr8:98395101..146295771 [GRCh37] Chr8:98464277..146266575 [NCBI36] Chr8:8q22.1-24.3 |
pathogenic |
GRCh38/hg38 8q24.3(chr8:142809777-142910556)x3 | copy number gain | See cases [RCV000139849] | Chr8:142809777..142910556 [GRCh38] Chr8:143891193..143991972 [GRCh37] Chr8:143888195..143988974 [NCBI36] Chr8:8q24.3 |
uncertain significance |
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 | copy number loss | See cases [RCV000140913] | Chr8:141738068..144140607 [GRCh38] Chr8:142764538..145195510 [GRCh37] Chr8:142823655..145267498 [NCBI36] Chr8:8q24.3 |
pathogenic |
GRCh38/hg38 8q24.3(chr8:142763122-142880038)x3 | copy number gain | See cases [RCV000140669] | Chr8:142763122..142880038 [GRCh38] Chr8:143844540..143961454 [GRCh37] Chr8:143841542..143958456 [NCBI36] Chr8:8q24.3 |
likely benign |
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 | copy number gain | See cases [RCV000141808] | Chr8:208048..145070385 [GRCh38] Chr8:158048..146295771 [GRCh37] Chr8:148048..146266575 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 | copy number gain | See cases [RCV000141694] | Chr8:100867343..145070385 [GRCh38] Chr8:101879571..146295771 [GRCh37] Chr8:101948747..146266575 [NCBI36] Chr8:8q22.3-24.3 |
pathogenic |
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 | copy number gain | See cases [RCV000142021] | Chr8:21291522..145070385 [GRCh38] Chr8:21149033..146295771 [GRCh37] Chr8:21193313..146266575 [NCBI36] Chr8:8p21.3-q24.3 |
pathogenic |
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 | copy number gain | See cases [RCV000142810] | Chr8:103306336..145068712 [GRCh38] Chr8:104318564..146294098 [GRCh37] Chr8:104387740..146264902 [NCBI36] Chr8:8q22.3-24.3 |
pathogenic|likely pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 | copy number gain | See cases [RCV000142858] | Chr8:226452..145068712 [GRCh38] Chr8:176452..146294098 [GRCh37] Chr8:166452..146264902 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 | copy number gain | See cases [RCV000142597] | Chr8:78614077..145054634 [GRCh38] Chr8:79526312..146280020 [GRCh37] Chr8:79688867..146250824 [NCBI36] Chr8:8q21.13-24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 | copy number gain | See cases [RCV000148092] | Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 | copy number gain | See cases [RCV000143659] | Chr8:85765999..145070385 [GRCh38] Chr8:86778228..146295771 [GRCh37] Chr8:86863079..146266575 [NCBI36] Chr8:8q21.2-24.3 |
pathogenic |
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 | copy number gain | See cases [RCV000148117] | Chr8:124514090..145054634 [GRCh38] Chr8:125526331..146280020 [GRCh37] Chr8:125595512..146250824 [NCBI36] Chr8:8q24.13-24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000672120]|Deficiency of steroid 11-beta-monooxygenase [RCV002494612]|not provided [RCV000224289] | Chr8:142875024 [GRCh38] Chr8:143956440 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
NM_000497.4(CYP11B1):c.304C>T (p.Gln102Ter) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000670507] | Chr8:142879123 [GRCh38] Chr8:143960539 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.841_842insACAGTACACCA (p.Ser281fs) | insertion | Deficiency of steroid 11-beta-monooxygenase [RCV000668927]|not provided [RCV000517484] | Chr8:142876353..142876354 [GRCh38] Chr8:143957769..143957770 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
NM_000497.4(CYP11B1):c.606G>A (p.Leu202=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000272874]|Glucocorticoid-remediable aldosteronism [RCV000320919]|not provided [RCV000877983] | Chr8:142876875 [GRCh38] Chr8:143958291 [GRCh37] Chr8:8q24.3 |
likely benign|uncertain significance |
NM_000497.4(CYP11B1):c.*245C>G | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000396632]|Glucocorticoid-remediable aldosteronism [RCV000344586] | Chr8:142874128 [GRCh38] Chr8:143955544 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.239+13C>A | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000287575]|Glucocorticoid-remediable aldosteronism [RCV000344850]|not provided [RCV001707684]|not specified [RCV001289402] | Chr8:142879562 [GRCh38] Chr8:143960978 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.*670A>C | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000337434]|Glucocorticoid-remediable aldosteronism [RCV000394825] | Chr8:142873703 [GRCh38] Chr8:143955119 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.800-14C>T | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000314377]|Glucocorticoid-remediable aldosteronism [RCV000395352]|not provided [RCV000516230] | Chr8:142876409 [GRCh38] Chr8:143957825 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.825T>C (p.Tyr275=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000335488]|Glucocorticoid-remediable aldosteronism [RCV000395358]|not provided [RCV000873646]|not specified [RCV001289403] | Chr8:142876370 [GRCh38] Chr8:143957786 [GRCh37] Chr8:8q24.3 |
benign|likely benign|uncertain significance |
NM_000497.4(CYP11B1):c.*738G>A | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000383461]|Glucocorticoid-remediable aldosteronism [RCV000284379]|not provided [RCV001594998] | Chr8:142873635 [GRCh38] Chr8:143955051 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.930A>G (p.Glu310=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000323554]|Glucocorticoid-remediable aldosteronism [RCV000284859]|not provided [RCV000874014] | Chr8:142876265 [GRCh38] Chr8:143957681 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.*718T>G | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000335804]|Glucocorticoid-remediable aldosteronism [RCV000285529] | Chr8:142873655 [GRCh38] Chr8:143955071 [GRCh37] Chr8:8q24.3 |
benign|likely benign |
NM_000497.4(CYP11B1):c.*634G>A | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000311738]|Glucocorticoid-remediable aldosteronism [RCV000371065] | Chr8:142873739 [GRCh38] Chr8:143955155 [GRCh37] Chr8:8q24.3 |
benign|likely benign |
NM_000497.4(CYP11B1):c.748C>T (p.Pro250Ser) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000401123]|Glucocorticoid-remediable aldosteronism [RCV000371156] | Chr8:142876733 [GRCh38] Chr8:143958149 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.225A>G (p.Leu75=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000309802]|Glucocorticoid-remediable aldosteronism [RCV000396739]|not provided [RCV001512041]|not specified [RCV001529237] | Chr8:142879589 [GRCh38] Chr8:143961005 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.*1076C>T | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000283544]|Glucocorticoid-remediable aldosteronism [RCV000397287] | Chr8:142873297 [GRCh38] Chr8:143954713 [GRCh37] Chr8:8q24.3 |
benign|likely benign |
NM_000497.4(CYP11B1):c.*1871T>A | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000310182]|Glucocorticoid-remediable aldosteronism [RCV000269132] | Chr8:142872502 [GRCh38] Chr8:143953918 [GRCh37] Chr8:8q24.3 |
benign|likely benign |
NM_000497.4(CYP11B1):c.*848C>T | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000328910]|Glucocorticoid-remediable aldosteronism [RCV000269207] | Chr8:142873525 [GRCh38] Chr8:143954941 [GRCh37] Chr8:8q24.3 |
benign|likely benign|uncertain significance |
NM_000497.4(CYP11B1):c.*132T>C | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000398771]|Glucocorticoid-remediable aldosteronism [RCV000303302]|not provided [RCV001653733] | Chr8:142874241 [GRCh38] Chr8:143955657 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.*1435T>C | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000358563]|Glucocorticoid-remediable aldosteronism [RCV000303764] | Chr8:142872938 [GRCh38] Chr8:143954354 [GRCh37] Chr8:8q24.3 |
likely benign|uncertain significance |
NM_000497.4(CYP11B1):c.1098T>G (p.Arg366=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000342727]|Deficiency of steroid 11-beta-monooxygenase [RCV002488811]|Glucocorticoid-remediable aldosteronism [RCV000304249]|not provided [RCV000517718] | Chr8:142875735 [GRCh38] Chr8:143957151 [GRCh37] Chr8:8q24.3 |
benign|likely benign |
NM_000497.4(CYP11B1):c.*1499C>T | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000400210]|Glucocorticoid-remediable aldosteronism [RCV000347968]|not provided [RCV004712522] | Chr8:142872874 [GRCh38] Chr8:143954290 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.554C>G (p.Thr185Ser) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000324614]|Glucocorticoid-remediable aldosteronism [RCV000372260]|not provided [RCV000711404] | Chr8:142877064 [GRCh38] Chr8:143958480 [GRCh37] Chr8:8q24.3 |
benign|likely benign |
NM_000497.4(CYP11B1):c.*1512G>A | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000307226]|Glucocorticoid-remediable aldosteronism [RCV000398997] | Chr8:142872861 [GRCh38] Chr8:143954277 [GRCh37] Chr8:8q24.3 |
benign|likely benign |
NM_000497.4(CYP11B1):c.*1417G>A | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000268559]|Glucocorticoid-remediable aldosteronism [RCV000305031]|not provided [RCV004712523] | Chr8:142872956 [GRCh38] Chr8:143954372 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.1086G>C (p.Leu362=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000357120]|Glucocorticoid-remediable aldosteronism [RCV000400145]|not provided [RCV001512038] | Chr8:142875747 [GRCh38] Chr8:143957163 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.1157C>T (p.Ala386Val) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000344753]|Glucocorticoid-remediable aldosteronism [RCV000287487]|not provided [RCV001515368] | Chr8:142875277 [GRCh38] Chr8:143956693 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.823T>C (p.Tyr275His) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000282706]|Glucocorticoid-remediable aldosteronism [RCV000349385]|not provided [RCV000875628] | Chr8:142876372 [GRCh38] Chr8:143957788 [GRCh37] Chr8:8q24.3 |
benign|likely benign|uncertain significance |
NM_000497.4(CYP11B1):c.*400C>T | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000293179]|Glucocorticoid-remediable aldosteronism [RCV000350476] | Chr8:142873973 [GRCh38] Chr8:143955389 [GRCh37] Chr8:8q24.3 |
likely benign|uncertain significance |
NM_000497.4(CYP11B1):c.*468C>T | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000319051]|Glucocorticoid-remediable aldosteronism [RCV000375946] | Chr8:142873905 [GRCh38] Chr8:143955321 [GRCh37] Chr8:8q24.3 |
benign|likely benign |
NM_000497.4(CYP11B1):c.*1555del | deletion | Congenital adrenal hyperplasia [RCV000296435]|Glucocorticoid-remediable aldosteronism [RCV000351310] | Chr8:142872818 [GRCh38] Chr8:143954234 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.*613A>G | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000401714]|Glucocorticoid-remediable aldosteronism [RCV000308215] | Chr8:142873760 [GRCh38] Chr8:143955176 [GRCh37] Chr8:8q24.3 |
likely benign|uncertain significance |
NM_000497.4(CYP11B1):c.743C>T (p.Thr248Ile) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000365375]|Glucocorticoid-remediable aldosteronism [RCV000308366]|not provided [RCV000873572]|not specified [RCV000422800] | Chr8:142876738 [GRCh38] Chr8:143958154 [GRCh37] Chr8:8q24.3 |
benign|likely benign |
NM_000497.4(CYP11B1):c.954+9G>C | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000376915]|Glucocorticoid-remediable aldosteronism [RCV000329356]|not provided [RCV001479988] | Chr8:142876232 [GRCh38] Chr8:143957648 [GRCh37] Chr8:8q24.3 |
likely benign|uncertain significance |
NM_000497.4(CYP11B1):c.*1258G>A | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000275454]|Glucocorticoid-remediable aldosteronism [RCV000330586] | Chr8:142873115 [GRCh38] Chr8:143954531 [GRCh37] Chr8:8q24.3 |
benign|likely benign |
NM_000497.4(CYP11B1):c.*923G>C | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000312470]|Glucocorticoid-remediable aldosteronism [RCV000400670]|not provided [RCV001533939] | Chr8:142873450 [GRCh38] Chr8:143954866 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.*1042A>G | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000343186]|Glucocorticoid-remediable aldosteronism [RCV000401464]|not provided [RCV001636998] | Chr8:142873331 [GRCh38] Chr8:143954747 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.*193A>T | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000347855]|Glucocorticoid-remediable aldosteronism [RCV000309315]|not provided [RCV004705455] | Chr8:142874180 [GRCh38] Chr8:143955596 [GRCh37] Chr8:8q24.3 |
benign|likely benign |
NM_000497.4(CYP11B1):c.1451T>A (p.Val484Asp) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000665161]|Glucocorticoid-remediable aldosteronism [RCV000354829]|not provided [RCV000711398] | Chr8:142874434 [GRCh38] Chr8:143955850 [GRCh37] Chr8:8q24.3 |
benign|likely benign|uncertain significance |
NM_000497.4(CYP11B1):c.*737C>T | single nucleotide variant | Congenital adrenal hyperplasia [RCV000320620]|Glucocorticoid-remediable aldosteronism [RCV000379908] | Chr8:142873636 [GRCh38] Chr8:143955052 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.873G>A (p.Ala291=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000278114]|Glucocorticoid-remediable aldosteronism [RCV000380524]|not provided [RCV001512123]|not specified [RCV000518376] | Chr8:142876322 [GRCh38] Chr8:143957738 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.*471A>C | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000379427]|Glucocorticoid-remediable aldosteronism [RCV000259195]|not provided [RCV004712526] | Chr8:142873902 [GRCh38] Chr8:143955318 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.*1138del | deletion | Congenital adrenal hyperplasia [RCV000346760]|Glucocorticoid-remediable aldosteronism [RCV000291805] | Chr8:142873235 [GRCh38] Chr8:143954651 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.*1622C>T | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000316337]|Glucocorticoid-remediable aldosteronism [RCV000261142] | Chr8:142872751 [GRCh38] Chr8:143954167 [GRCh37] Chr8:8q24.3 |
likely benign|uncertain significance |
NM_000497.4(CYP11B1):c.*901G>A | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000367235]|Glucocorticoid-remediable aldosteronism [RCV000277343] | Chr8:142873472 [GRCh38] Chr8:143954888 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.246C>T (p.Asp82=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000385596]|Glucocorticoid-remediable aldosteronism [RCV000293653]|not provided [RCV001512040]|not specified [RCV001528546] | Chr8:142879181 [GRCh38] Chr8:143960597 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.1399-14G>C | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000319378]|Glucocorticoid-remediable aldosteronism [RCV000261882]|not provided [RCV002058705]|not specified [RCV000518677] | Chr8:142874500 [GRCh38] Chr8:143955916 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.1014G>A (p.Gln338=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000325754]|Glucocorticoid-remediable aldosteronism [RCV000277689]|not provided [RCV000877389]|not specified [RCV000499909] | Chr8:142875819 [GRCh38] Chr8:143957235 [GRCh37] Chr8:8q24.3 |
benign|likely benign|uncertain significance |
NM_000497.4(CYP11B1):c.1042G>A (p.Ala348Thr) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000369678]|Glucocorticoid-remediable aldosteronism [RCV000312683]|not provided [RCV002058706]|not specified [RCV000503743] | Chr8:142875791 [GRCh38] Chr8:143957207 [GRCh37] Chr8:8q24.3 |
benign|likely benign|uncertain significance |
NM_000497.4(CYP11B1):c.595+12G>A | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000266926]|Glucocorticoid-remediable aldosteronism [RCV000359290]|not provided [RCV001512039]|not specified [RCV001529766] | Chr8:142877011 [GRCh38] Chr8:143958427 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.1353T>C (p.Leu451=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000274881]|Glucocorticoid-remediable aldosteronism [RCV000385679]|not provided [RCV000873561]|not specified [RCV000517786] | Chr8:142875002 [GRCh38] Chr8:143956418 [GRCh37] Chr8:8q24.3 |
benign|likely benign |
NM_000497.4(CYP11B1):c.*1566G>T | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000350010]|Glucocorticoid-remediable aldosteronism [RCV000385918]|not provided [RCV004712521] | Chr8:142872807 [GRCh38] Chr8:143954223 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.*1209C>T | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000389700]|Glucocorticoid-remediable aldosteronism [RCV000295446] | Chr8:142873164 [GRCh38] Chr8:143954580 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1488C>T (p.Leu496=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000268296]|Glucocorticoid-remediable aldosteronism [RCV000360638]|not provided [RCV001425759] | Chr8:142874397 [GRCh38] Chr8:143955813 [GRCh37] Chr8:8q24.3 |
likely benign|uncertain significance |
NM_000497.4(CYP11B1):c.375C>G (p.His125Gln) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000318740]|Glucocorticoid-remediable aldosteronism [RCV000280074]|Inborn genetic diseases [RCV004022070]|not provided [RCV000878847] | Chr8:142879052 [GRCh38] Chr8:143960468 [GRCh37] Chr8:8q24.3 |
benign|likely benign|uncertain significance |
NM_000497.4(CYP11B1):c.*318A>G | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000388596]|Glucocorticoid-remediable aldosteronism [RCV000296570]|not provided [RCV004712527] | Chr8:142874055 [GRCh38] Chr8:143955471 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.*1020C>T | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000356758]|Glucocorticoid-remediable aldosteronism [RCV000297239]|not provided [RCV001712765] | Chr8:142873353 [GRCh38] Chr8:143954769 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.104T>C (p.Val35Ala) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000304435]|Glucocorticoid-remediable aldosteronism [RCV000361436]|not provided [RCV000876416] | Chr8:142879710 [GRCh38] Chr8:143961126 [GRCh37] Chr8:8q24.3 |
benign|likely benign|uncertain significance |
NM_000497.4(CYP11B1):c.*516A>G | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000273065]|Glucocorticoid-remediable aldosteronism [RCV000363072]|not provided [RCV004712525] | Chr8:142873857 [GRCh38] Chr8:143955273 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.1090T>C (p.Leu364=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000401066]|Glucocorticoid-remediable aldosteronism [RCV000298406]|not provided [RCV000918087] | Chr8:142875743 [GRCh38] Chr8:143957159 [GRCh37] Chr8:8q24.3 |
likely benign|uncertain significance |
NM_000497.4(CYP11B1):c.128G>A (p.Arg43Gln) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000398709]|Glucocorticoid-remediable aldosteronism [RCV000339466]|not provided [RCV001515369]|not specified [RCV001805029] | Chr8:142879686 [GRCh38] Chr8:143961102 [GRCh37] Chr8:8q24.3 |
benign|likely benign |
NM_000497.4(CYP11B1):c.*857T>C | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000332454]|Glucocorticoid-remediable aldosteronism [RCV000363817] | Chr8:142873516 [GRCh38] Chr8:143954932 [GRCh37] Chr8:8q24.3 |
likely benign|uncertain significance |
NM_000497.4(CYP11B1):c.*1852T>G | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000265547]|Glucocorticoid-remediable aldosteronism [RCV000364820]|not provided [RCV004712520] | Chr8:142872521 [GRCh38] Chr8:143953937 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.*694T>C | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000394822]|Glucocorticoid-remediable aldosteronism [RCV000282385]|not provided [RCV001594999] | Chr8:142873679 [GRCh38] Chr8:143955095 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.*1288A>G | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000356205]|Glucocorticoid-remediable aldosteronism [RCV000320128]|not provided [RCV004712524] | Chr8:142873085 [GRCh38] Chr8:143954501 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.*1770A>T | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000379863]|Glucocorticoid-remediable aldosteronism [RCV000320538] | Chr8:142872603 [GRCh38] Chr8:143954019 [GRCh37] Chr8:8q24.3 |
likely benign|uncertain significance |
NM_000497.4(CYP11B1):c.*1590G>C | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000375733]|Glucocorticoid-remediable aldosteronism [RCV000281238] | Chr8:142872783 [GRCh38] Chr8:143954199 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.*1358T>C | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000260308]|Glucocorticoid-remediable aldosteronism [RCV000354069] | Chr8:142873015 [GRCh38] Chr8:143954431 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.*485C>G | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000324878]|Glucocorticoid-remediable aldosteronism [RCV000264968] | Chr8:142873888 [GRCh38] Chr8:143955304 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1476C>A (p.Ser492Arg) | single nucleotide variant | not provided [RCV002283263] | Chr8:142874409 [GRCh38] Chr8:143955825 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.77C>T (p.Thr26Met) | single nucleotide variant | not provided [RCV000487967] | Chr8:142879737 [GRCh38] Chr8:143961153 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1205T>C (p.Leu402Ser) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000332351]|Deficiency of steroid 11-beta-monooxygenase [RCV002504183]|Glucocorticoid-remediable aldosteronism [RCV000389302] | Chr8:142875150 [GRCh38] Chr8:143956566 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.26T>C (p.Val9Ala) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002481671]|not specified [RCV000517023] | Chr8:142879788 [GRCh38] Chr8:143961204 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.*495C>T | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000359595]|Glucocorticoid-remediable aldosteronism [RCV000309572] | Chr8:142873878 [GRCh38] Chr8:143955294 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.*1164G>A | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000381423]|Glucocorticoid-remediable aldosteronism [RCV000326825] | Chr8:142873209 [GRCh38] Chr8:143954625 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.969G>T (p.Leu323Phe) | single nucleotide variant | not provided [RCV004691824]|not specified [RCV000517472] | Chr8:142875864 [GRCh38] Chr8:143957280 [GRCh37] Chr8:8q24.3 |
uncertain significance |
GRCh37/hg19 8q24.3(chr8:142840194-146280020) | copy number gain | Intellectual disability [RCV000626547] | Chr8:142840194..146280020 [GRCh37] Chr8:8q24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 | copy number gain | See cases [RCV000447507] | Chr8:158991..146280828 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 | copy number gain | See cases [RCV000448954] | Chr8:98432250..146222672 [GRCh37] Chr8:8q22.1-24.3 |
pathogenic |
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 | copy number gain | See cases [RCV000448348] | Chr8:134825277..146280828 [GRCh37] Chr8:8q24.22-24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.835G>A (p.Ala279Thr) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002481537]|not provided [RCV000484244] | Chr8:142876360 [GRCh38] Chr8:143957776 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.395+9C>T | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001158701]|Glucocorticoid-remediable aldosteronism [RCV001158700]|not provided [RCV000872189]|not specified [RCV000501378] | Chr8:142879023 [GRCh38] Chr8:143960439 [GRCh37] Chr8:8q24.3 |
benign|uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) | copy number gain | See cases [RCV000510234] | Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.52del (p.Leu18fs) | deletion | not provided [RCV000492807] | Chr8:142879762 [GRCh38] Chr8:143961178 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 | copy number gain | See cases [RCV000512003] | Chr8:136378789..146295771 [GRCh37] Chr8:8q24.22-24.3 |
likely pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 | copy number gain | See cases [RCV000511095] | Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 | copy number gain | See cases [RCV000511002] | Chr8:86841154..146295771 [GRCh37] Chr8:8q21.2-24.3 |
pathogenic |
NM_000497.3(CYP11B1):c.841_842ins11 (p.?) | insertion | Deficiency of steroid 11-beta-monooxygenase [RCV000668927] | Chr8:142876353..142876354 [GRCh38] Chr8:143957769 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.446T>C (p.Leu149Pro) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000625625] | Chr8:142877172 [GRCh38] Chr8:143958588 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.785G>A (p.Cys262Tyr) | single nucleotide variant | Inborn genetic diseases [RCV003248439] | Chr8:142876696 [GRCh38] Chr8:143958112 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1027G>A (p.Glu343Lys) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000625626] | Chr8:142875806 [GRCh38] Chr8:143957222 [GRCh37] Chr8:8q24.3 |
uncertain significance |
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 | copy number gain | See cases [RCV000512401] | Chr8:114853126..146295771 [GRCh37] Chr8:8q23.3-24.3 |
pathogenic |
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 | copy number gain | See cases [RCV000512169] | Chr8:12490999..146295771 [GRCh37] Chr8:8p23.1-q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.168G>A (p.Trp56Ter) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000672260] | Chr8:142879646 [GRCh38] Chr8:143961062 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.473T>C (p.Leu158Pro) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000672937] | Chr8:142877145 [GRCh38] Chr8:143958561 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.494C>A (p.Ala165Asp) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000673116] | Chr8:142877124 [GRCh38] Chr8:143958540 [GRCh37] Chr8:8q24.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000497.4(CYP11B1):c.385G>A (p.Val129Met) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000673379]|Deficiency of steroid 11-beta-monooxygenase [RCV002477506]|Glucocorticoid-remediable aldosteronism [RCV001158704] | Chr8:142879042 [GRCh38] Chr8:143960458 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1128C>A (p.Tyr376Ter) | single nucleotide variant | CYP11B1-related disorder [RCV004751658]|Deficiency of steroid 11-beta-monooxygenase [RCV000671118]|not provided [RCV002531270] | Chr8:142875306 [GRCh38] Chr8:143956722 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
NM_000497.4(CYP11B1):c.740G>A (p.Trp247Ter) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000669979]|not provided [RCV001227579] | Chr8:142876741 [GRCh38] Chr8:143958157 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.799+1G>C | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000673530] | Chr8:142876681 [GRCh38] Chr8:143958097 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.1112A>G (p.Glu371Gly) | single nucleotide variant | CYP11B1-related disorder [RCV003420186]|Deficiency of steroid 11-beta-monooxygenase [RCV000670290]|not provided [RCV001868241] | Chr8:142875721 [GRCh38] Chr8:143957137 [GRCh37] Chr8:8q24.3 |
likely pathogenic|uncertain significance|no classifications from unflagged records |
NM_000497.4(CYP11B1):c.395+1G>C | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000673849] | Chr8:142879031 [GRCh38] Chr8:143960447 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.1157C>A (p.Ala386Glu) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000665278] | Chr8:142875277 [GRCh38] Chr8:143956693 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.55C>T (p.Gln19Ter) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000667072]|not provided [RCV001040067] | Chr8:142879759 [GRCh38] Chr8:143961175 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
NM_000497.4(CYP11B1):c.992C>T (p.Ala331Val) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000667891]|not provided [RCV003558494] | Chr8:142875841 [GRCh38] Chr8:143957257 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
NM_000497.4(CYP11B1):c.780G>A (p.Trp260Ter) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000670838]|not provided [RCV000711405] | Chr8:142876701 [GRCh38] Chr8:143958117 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.217C>T (p.Gln73Ter) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000674113]|not provided [RCV001233426] | Chr8:142879597 [GRCh38] Chr8:143961013 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
NM_000497.4(CYP11B1):c.374A>G (p.His125Arg) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000671379] | Chr8:142879053 [GRCh38] Chr8:143960469 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.187G>C (p.Asp63His) | single nucleotide variant | Congenital adrenal hyperplasia [RCV002282305]|Deficiency of steroid 11-beta-monooxygenase [RCV000668553] | Chr8:142879627 [GRCh38] Chr8:143961043 [GRCh37] Chr8:8q24.3 |
likely pathogenic|uncertain significance |
NM_000497.4(CYP11B1):c.1361G>A (p.Arg454His) | single nucleotide variant | Congenital adrenal hyperplasia [RCV004526748]|Deficiency of steroid 11-beta-monooxygenase [RCV000672406]|Hereditary breast ovarian cancer syndrome [RCV004544930]|not provided [RCV002531315] | Chr8:142874994 [GRCh38] Chr8:143956410 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
NM_000497.4(CYP11B1):c.953C>G (p.Thr318Arg) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000672570]|not provided [RCV001224692] | Chr8:142876242 [GRCh38] Chr8:143957658 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
NM_000497.4(CYP11B1):c.779G>A (p.Trp260Ter) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000674543] | Chr8:142876702 [GRCh38] Chr8:143958118 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.317_344del (p.Leu106fs) | deletion | Deficiency of steroid 11-beta-monooxygenase [RCV000667039]|not provided [RCV000820022] | Chr8:142879083..142879110 [GRCh38] Chr8:143960499..143960526 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.372del (p.His125fs) | deletion | Deficiency of steroid 11-beta-monooxygenase [RCV000667181] | Chr8:142879055 [GRCh38] Chr8:143960471 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.1486del (p.Leu496fs) | deletion | CYP11B1-related disorder [RCV003420179]|Deficiency of steroid 11-beta-monooxygenase [RCV000667414] | Chr8:142874399 [GRCh38] Chr8:143955815 [GRCh37] Chr8:8q24.3 |
pathogenic|uncertain significance |
NM_000497.4(CYP11B1):c.1280G>A (p.Arg427His) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000670970]|Deficiency of steroid 11-beta-monooxygenase [RCV002477503]|not provided [RCV004696975]|not specified [RCV002509501] | Chr8:142875075 [GRCh38] Chr8:143956491 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.632_640del (p.Leu211_Gly213del) | deletion | Deficiency of steroid 11-beta-monooxygenase [RCV000665111] | Chr8:142876841..142876849 [GRCh38] Chr8:143958257..143958265 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1021C>A (p.Arg341Ser) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000665440]|Deficiency of steroid 11-beta-monooxygenase [RCV002477481]|not provided [RCV002281122] | Chr8:142875812 [GRCh38] Chr8:143957228 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.45G>A (p.Trp15Ter) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000674379]|not provided [RCV001855607] | Chr8:142879769 [GRCh38] Chr8:143961185 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
NM_000497.4(CYP11B1):c.595+1G>A | single nucleotide variant | Congenital adrenal hyperplasia [RCV003230566]|Deficiency of steroid 11-beta-monooxygenase [RCV000667755]|not provided [RCV000732722] | Chr8:142877022 [GRCh38] Chr8:143958438 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000497.4(CYP11B1):c.1159dup (p.Ser387fs) | duplication | Deficiency of steroid 11-beta-monooxygenase [RCV000667792] | Chr8:142875274..142875275 [GRCh38] Chr8:143956690..143956691 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.147del (p.Trp49fs) | deletion | Deficiency of steroid 11-beta-monooxygenase [RCV000674573] | Chr8:142879667 [GRCh38] Chr8:143961083 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.1205del (p.Leu402fs) | deletion | Deficiency of steroid 11-beta-monooxygenase [RCV000666356] | Chr8:142875150 [GRCh38] Chr8:143956566 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.412C>T (p.Arg138Cys) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000668003]|not provided [RCV002530733] | Chr8:142877206 [GRCh38] Chr8:143958622 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000497.4(CYP11B1):c.1145T>G (p.Leu382Arg) | single nucleotide variant | Congenital adrenal hyperplasia [RCV004702305]|Deficiency of steroid 11-beta-monooxygenase [RCV000673616] | Chr8:142875289 [GRCh38] Chr8:143956705 [GRCh37] Chr8:8q24.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000497.4(CYP11B1):c.1398+2T>C | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000674749] | Chr8:142874955 [GRCh38] Chr8:143956371 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.346T>G (p.Trp116Gly) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000668604]|Glucocorticoid-remediable aldosteronism [RCV001161915]|not provided [RCV001868223] | Chr8:142879081 [GRCh38] Chr8:143960497 [GRCh37] Chr8:8q24.3 |
likely pathogenic|uncertain significance |
NM_000497.4(CYP11B1):c.235T>A (p.Phe79Ile) | single nucleotide variant | Congenital adrenal hyperplasia [RCV002271551]|Deficiency of steroid 11-beta-monooxygenase [RCV000665385] | Chr8:142879579 [GRCh38] Chr8:143960995 [GRCh37] Chr8:8q24.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000497.4(CYP11B1):c.955-15_955-1del | deletion | Deficiency of steroid 11-beta-monooxygenase [RCV000664656] | Chr8:142875879..142875893 [GRCh38] Chr8:143957295..143957309 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.955-1G>A | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000666001] | Chr8:142875879 [GRCh38] Chr8:143957295 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.517AAG[2] (p.Lys175del) | microsatellite | Deficiency of steroid 11-beta-monooxygenase [RCV000664716]|Deficiency of steroid 11-beta-monooxygenase [RCV002477478]|not provided [RCV003767945] | Chr8:142877093..142877095 [GRCh38] Chr8:143958509..143958511 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1151G>A (p.Arg384Gln) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000667465]|Deficiency of steroid 11-beta-monooxygenase [RCV000763177]|not provided [RCV001386864] | Chr8:142875283 [GRCh38] Chr8:143956699 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 | copy number gain | not provided [RCV000683020] | Chr8:143815037..146295771 [GRCh37] Chr8:8q24.3 |
pathogenic |
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 | copy number gain | not provided [RCV000683044] | Chr8:121694649..146295771 [GRCh37] Chr8:8q24.12-24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.1328T>C (p.Phe443Ser) | single nucleotide variant | not provided [RCV000711395] | Chr8:142875027 [GRCh38] Chr8:143956443 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1398+5G>C | single nucleotide variant | Congenital adrenal hyperplasia [RCV003387915]|Deficiency of steroid 11-beta-monooxygenase [RCV004569402]|not provided [RCV000711396] | Chr8:142874952 [GRCh38] Chr8:143956368 [GRCh37] Chr8:8q24.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000497.4(CYP11B1):c.1443A>G (p.Ile481Met) | single nucleotide variant | not provided [RCV000711397] | Chr8:142874442 [GRCh38] Chr8:143955858 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.338T>G (p.Leu113Arg) | single nucleotide variant | not provided [RCV000711400] | Chr8:142879089 [GRCh38] Chr8:143960505 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.357C>T (p.Tyr119=) | single nucleotide variant | not provided [RCV000711401] | Chr8:142879070 [GRCh38] Chr8:143960486 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.538G>A (p.Ala180Thr) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002477644]|not provided [RCV000711403] | Chr8:142877080 [GRCh38] Chr8:143958496 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1460T>C (p.Phe487Ser) | single nucleotide variant | not provided [RCV000711399] | Chr8:142874425 [GRCh38] Chr8:143955841 [GRCh37] Chr8:8q24.3 |
uncertain significance |
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 | copy number gain | not provided [RCV000845705] | Chr8:125496223..146295771 [GRCh37] Chr8:8q24.13-24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.240-23C>T | single nucleotide variant | not provided [RCV001608968] | Chr8:142879210 [GRCh38] Chr8:143960626 [GRCh37] Chr8:8q24.3 |
benign |
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 | copy number gain | not provided [RCV000747248] | Chr8:10213..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 | copy number gain | not provided [RCV000747254] | Chr8:164984..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q24.3(chr8:143958399-143994806)x1 | copy number loss | not provided [RCV000747917] | Chr8:143958399..143994806 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.1200+1del | deletion | Deficiency of steroid 11-beta-monooxygenase [RCV001667864] | Chr8:142875233 [GRCh38] Chr8:143956649 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
NM_000497.4(CYP11B1):c.542G>C (p.Arg181Pro) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001165420]|Glucocorticoid-remediable aldosteronism [RCV001165421]|not provided [RCV002559585] | Chr8:142877076 [GRCh38] Chr8:143958492 [GRCh37] Chr8:8q24.3 |
benign|uncertain significance |
NM_000497.4(CYP11B1):c.623G>A (p.Arg208Gln) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001667865]|not provided [RCV002539671] | Chr8:142876858 [GRCh38] Chr8:143958274 [GRCh37] Chr8:8q24.3 |
pathogenic|uncertain significance |
NM_000497.4(CYP11B1):c.1200+11C>T | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001165191]|Glucocorticoid-remediable aldosteronism [RCV001165190]|not provided [RCV003737011] | Chr8:142875223 [GRCh38] Chr8:143956639 [GRCh37] Chr8:8q24.3 |
benign|likely benign|uncertain significance |
NM_000497.4(CYP11B1):c.912C>G (p.Ile304Met) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001165312]|Glucocorticoid-remediable aldosteronism [RCV001165311] | Chr8:142876283 [GRCh38] Chr8:143957699 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.285G>A (p.Glu95=) | single nucleotide variant | not provided [RCV000944743] | Chr8:142879142 [GRCh38] Chr8:143960558 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.799+9del | deletion | not provided [RCV000981903] | Chr8:142876673 [GRCh38] Chr8:143958089 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.395+7G>A | single nucleotide variant | not provided [RCV000951437] | Chr8:142879025 [GRCh38] Chr8:143960441 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.228G>A (p.Gly76=) | single nucleotide variant | not provided [RCV000943961] | Chr8:142879586 [GRCh38] Chr8:143961002 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.435T>C (p.Asn145=) | single nucleotide variant | not provided [RCV000878756] | Chr8:142877183 [GRCh38] Chr8:143958599 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.391T>C (p.Leu131=) | single nucleotide variant | not provided [RCV000877034] | Chr8:142879036 [GRCh38] Chr8:143960452 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.395+6C>T | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001158702]|Glucocorticoid-remediable aldosteronism [RCV001158703]|not provided [RCV000877600]|not specified [RCV001817042] | Chr8:142879026 [GRCh38] Chr8:143960442 [GRCh37] Chr8:8q24.3 |
benign|likely benign|uncertain significance |
NM_000497.4(CYP11B1):c.954+8C>G | single nucleotide variant | not provided [RCV000983422] | Chr8:142876233 [GRCh38] Chr8:143957649 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.288C>T (p.Asp96=) | single nucleotide variant | not provided [RCV000945622] | Chr8:142879139 [GRCh38] Chr8:143960555 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.395+10G>A | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002502925]|not provided [RCV000950947] | Chr8:142879022 [GRCh38] Chr8:143960438 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1488C>A (p.Leu496=) | single nucleotide variant | not provided [RCV000904921] | Chr8:142874397 [GRCh38] Chr8:143955813 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.63A>G (p.Ala21=) | single nucleotide variant | not provided [RCV000977124] | Chr8:142879751 [GRCh38] Chr8:143961167 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.596-5C>T | single nucleotide variant | not provided [RCV000877188] | Chr8:142876890 [GRCh38] Chr8:143958306 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.994C>G (p.Arg332Gly) | single nucleotide variant | not provided [RCV001071218] | Chr8:142875839 [GRCh38] Chr8:143957255 [GRCh37] Chr8:8q24.3 |
pathogenic |
NC_000008.11:g.(?_142874363)_(142918184_?)del | deletion | not provided [RCV001031449] | Chr8:143955779..143999600 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.449C>T (p.Ser150Leu) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV000779553]|Glucocorticoid-remediable aldosteronism [RCV001165426] | Chr8:142877169 [GRCh38] Chr8:143958585 [GRCh37] Chr8:8q24.3 |
likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000497.4(CYP11B1):c.1360C>T (p.Arg454Cys) | single nucleotide variant | not provided [RCV000800350] | Chr8:142874995 [GRCh38] Chr8:143956411 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.282G>T (p.Pro94=) | single nucleotide variant | not provided [RCV000894948] | Chr8:142879145 [GRCh38] Chr8:143960561 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.645C>T (p.Ser215=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002495323]|not provided [RCV000876868] | Chr8:142876836 [GRCh38] Chr8:143958252 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.945C>T (p.Ser315=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002501333]|not provided [RCV000874770] | Chr8:142876250 [GRCh38] Chr8:143957666 [GRCh37] Chr8:8q24.3 |
benign|likely benign |
NM_000497.4(CYP11B1):c.89G>A (p.Arg30Gln) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002488023]|not provided [RCV000945460] | Chr8:142879725 [GRCh38] Chr8:143961141 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.294G>A (p.Glu98=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002501331]|not provided [RCV000874651] | Chr8:142879133 [GRCh38] Chr8:143960549 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.988C>T (p.Leu330=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002501336]|not provided [RCV000874906] | Chr8:142875845 [GRCh38] Chr8:143957261 [GRCh37] Chr8:8q24.3 |
benign|likely benign |
NM_000497.4(CYP11B1):c.800-6G>A | single nucleotide variant | not provided [RCV000930239] | Chr8:142876401 [GRCh38] Chr8:143957817 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.504C>T (p.Phe168=) | single nucleotide variant | not provided [RCV000896873] | Chr8:142877114 [GRCh38] Chr8:143958530 [GRCh37] Chr8:8q24.3 |
likely benign |
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 | copy number loss | not provided [RCV001006150] | Chr8:142132678..145569441 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.1417G>C (p.Val473Leu) | single nucleotide variant | Inborn genetic diseases [RCV003271365] | Chr8:142874468 [GRCh38] Chr8:143955884 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1276del (p.Gln426fs) | deletion | not provided [RCV000821868] | Chr8:142875079 [GRCh38] Chr8:143956495 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.561C>T (p.Asp187=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002501307]|not provided [RCV000871336] | Chr8:142877057 [GRCh38] Chr8:143958473 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1272C>T (p.Asn424=) | single nucleotide variant | not provided [RCV000871388] | Chr8:142875083 [GRCh38] Chr8:143956499 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1266C>G (p.Arg422=) | single nucleotide variant | not provided [RCV000871389] | Chr8:142875089 [GRCh38] Chr8:143956505 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.476C>T (p.Pro159Leu) | single nucleotide variant | Congenital adrenal hyperplasia [RCV003226412]|not provided [RCV000991869] | Chr8:142877142 [GRCh38] Chr8:143958558 [GRCh37] Chr8:8q24.3 |
likely pathogenic|uncertain significance |
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 | copy number gain | not provided [RCV000849762] | Chr8:122193546..146295771 [GRCh37] Chr8:8q24.12-24.3 |
pathogenic |
NC_000008.11:g.(?_142875702)_(142912895_?)del | deletion | not provided [RCV000802588] | Chr8:142875702..142912895 [GRCh38] Chr8:143957118..143994311 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.96del (p.Arg33fs) | deletion | not provided [RCV000991871] | Chr8:142879718 [GRCh38] Chr8:143961134 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.*390A>G | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001165079]|Glucocorticoid-remediable aldosteronism [RCV001165080] | Chr8:142873983 [GRCh38] Chr8:143955399 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.800-7C>T | single nucleotide variant | not provided [RCV000875918] | Chr8:142876402 [GRCh38] Chr8:143957818 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1077C>A (p.Thr359=) | single nucleotide variant | not provided [RCV000979492] | Chr8:142875756 [GRCh38] Chr8:143957172 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.459T>C (p.Ala153=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002507532]|not provided [RCV000875264] | Chr8:142877159 [GRCh38] Chr8:143958575 [GRCh37] Chr8:8q24.3 |
benign|likely benign |
NM_000497.4(CYP11B1):c.747C>T (p.Ser249=) | single nucleotide variant | not provided [RCV000981569] | Chr8:142876734 [GRCh38] Chr8:143958150 [GRCh37] Chr8:8q24.3 |
likely benign |
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 | copy number gain | not provided [RCV000846814] | Chr8:139188797..146295771 [GRCh37] Chr8:8q24.23-24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.*1550C>T | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001164738]|Glucocorticoid-remediable aldosteronism [RCV001164739] | Chr8:142872823 [GRCh38] Chr8:143954239 [GRCh37] Chr8:8q24.3 |
uncertain significance |
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 | copy number gain | not provided [RCV000847171] | Chr8:136059859..146295771 [GRCh37] Chr8:8q24.22-24.3 |
pathogenic |
GRCh37/hg19 8q24.3(chr8:143956846-143994131)x1 | copy number loss | not provided [RCV000846740] | Chr8:143956846..143994131 [GRCh37] Chr8:8q24.3 |
uncertain significance |
GRCh37/hg19 8q24.3(chr8:143786100-143964656)x3 | copy number gain | not provided [RCV000849655] | Chr8:143786100..143964656 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.240-18_240-17delinsAA | indel | not provided [RCV000991867]|not specified [RCV003235441] | Chr8:142879204..142879205 [GRCh38] Chr8:143960620..143960621 [GRCh37] Chr8:8q24.3 |
conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 8q24.3(chr8:143570920-144459613)x1 | copy number loss | not provided [RCV001006151] | Chr8:143570920..144459613 [GRCh37] Chr8:8q24.3 |
uncertain significance |
GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1 | copy number loss | not provided [RCV001006152] | Chr8:143616831..144930611 [GRCh37] Chr8:8q24.3 |
pathogenic |
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 | copy number gain | not provided [RCV000848192] | Chr8:31936551..146295771 [GRCh37] Chr8:8p12-q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.369T>C (p.Arg123=) | single nucleotide variant | not provided [RCV000936782] | Chr8:142879058 [GRCh38] Chr8:143960474 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.107T>G (p.Leu36Arg) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001163731]|Glucocorticoid-remediable aldosteronism [RCV001158809]|not provided [RCV004695008] | Chr8:142879707 [GRCh38] Chr8:143961123 [GRCh37] Chr8:8q24.3 |
uncertain significance |
GRCh37/hg19 8q24.3(chr8:142988974-144218537)x3 | copy number gain | not provided [RCV000846118] | Chr8:142988974..144218537 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.244G>A (p.Asp82Asn) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001161920]|Glucocorticoid-remediable aldosteronism [RCV001163438] | Chr8:142879183 [GRCh38] Chr8:143960599 [GRCh37] Chr8:8q24.3 |
likely benign|uncertain significance |
NM_000497.4(CYP11B1):c.*1623G>C | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001162681]|Glucocorticoid-remediable aldosteronism [RCV001162680] | Chr8:142872750 [GRCh38] Chr8:143954166 [GRCh37] Chr8:8q24.3 |
uncertain significance |
GRCh37/hg19 8q24.3(chr8:143728492-144093928)x3 | copy number gain | not provided [RCV001006153] | Chr8:143728492..144093928 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.*1296A>G | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001162782]|Glucocorticoid-remediable aldosteronism [RCV001162781] | Chr8:142873077 [GRCh38] Chr8:143954493 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.465G>C (p.Gln155His) | single nucleotide variant | not provided [RCV000991868] | Chr8:142877153 [GRCh38] Chr8:143958569 [GRCh37] Chr8:8q24.3 |
uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 | copy number gain | not provided [RCV000848478] | Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.546_552del (p.Ser183fs) | deletion | not provided [RCV001223180] | Chr8:142877066..142877072 [GRCh38] Chr8:143958482..143958488 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.348delinsCT (p.Trp116fs) | indel | not provided [RCV001246330] | Chr8:142879079 [GRCh38] Chr8:143960495 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.766C>T (p.His256Tyr) | single nucleotide variant | Glucocorticoid-remediable aldosteronism [RCV001199201]|not provided [RCV003688924] | Chr8:142876715 [GRCh38] Chr8:143958131 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1399-14G>A | single nucleotide variant | Glucocorticoid-remediable aldosteronism [RCV001197785] | Chr8:142874500 [GRCh38] Chr8:143955916 [GRCh37] Chr8:8q24.3 |
uncertain significance |
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 | copy number gain | not provided [RCV001006146] | Chr8:128877995..146295771 [GRCh37] Chr8:8q24.21-24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.*596C>A | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001161466]|Glucocorticoid-remediable aldosteronism [RCV001161465] | Chr8:142873777 [GRCh38] Chr8:143955193 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.*193A>C | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001161582]|Glucocorticoid-remediable aldosteronism [RCV001161581] | Chr8:142874180 [GRCh38] Chr8:143955596 [GRCh37] Chr8:8q24.3 |
benign|likely benign |
NM_000497.4(CYP11B1):c.*317T>C | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001158370]|Glucocorticoid-remediable aldosteronism [RCV001158369] | Chr8:142874056 [GRCh38] Chr8:143955472 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.800-45C>T | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001658357]|not provided [RCV001636216] | Chr8:142876440 [GRCh38] Chr8:143957856 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.335G>T (p.Ser112Ile) | single nucleotide variant | Inborn genetic diseases [RCV003274392] | Chr8:142879092 [GRCh38] Chr8:143960508 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1122-48A>G | single nucleotide variant | not provided [RCV001660750] | Chr8:142875360 [GRCh38] Chr8:143956776 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.396-42C>T | single nucleotide variant | not provided [RCV001597831] | Chr8:142877264 [GRCh38] Chr8:143958680 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.1122-197A>G | single nucleotide variant | not provided [RCV001709812] | Chr8:142875509 [GRCh38] Chr8:142875509..142875510 [GRCh38] Chr8:143956925 [GRCh37] Chr8:143956925..143956926 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.1122-126C>T | single nucleotide variant | not provided [RCV001685706] | Chr8:142875438 [GRCh38] Chr8:143956854 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.1201-1G>A | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001667863] | Chr8:142875155 [GRCh38] Chr8:143956571 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
NM_000497.4(CYP11B1):c.186G>A (p.Glu62=) | single nucleotide variant | not provided [RCV000907242] | Chr8:142879628 [GRCh38] Chr8:143961044 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.622C>A (p.Arg208=) | single nucleotide variant | not provided [RCV000905248] | Chr8:142876859 [GRCh38] Chr8:143958275 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.846C>T (p.Arg282=) | single nucleotide variant | not provided [RCV000932613] | Chr8:142876349 [GRCh38] Chr8:143957765 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1201-10C>A | single nucleotide variant | not provided [RCV000980885] | Chr8:142875164 [GRCh38] Chr8:143956580 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.456C>G (p.Asn152Lys) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002487923]|not provided [RCV000875265]|not specified [RCV001644852] | Chr8:142877162 [GRCh38] Chr8:143958578 [GRCh37] Chr8:8q24.3 |
likely benign|conflicting interpretations of pathogenicity |
NM_000497.4(CYP11B1):c.1122G>A (p.Arg374=) | single nucleotide variant | not provided [RCV000873627] | Chr8:142875312 [GRCh38] Chr8:143956728 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.239+20T>A | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001250133]|not provided [RCV001675986] | Chr8:142879555 [GRCh38] Chr8:143960971 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.334A>C (p.Ser112Arg) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001161917]|Glucocorticoid-remediable aldosteronism [RCV001161916] | Chr8:142879093 [GRCh38] Chr8:143960509 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.*1511C>T | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001159825]|Glucocorticoid-remediable aldosteronism [RCV001159824] | Chr8:142872862 [GRCh38] Chr8:143954278 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.*614C>T | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001160057]|Glucocorticoid-remediable aldosteronism [RCV001160056] | Chr8:142873759 [GRCh38] Chr8:143955175 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1012C>T (p.Gln338Ter) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002291733]|not provided [RCV001210277] | Chr8:142875821 [GRCh38] Chr8:143957237 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.1038C>T (p.Ala346=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002502738]|not provided [RCV000911629] | Chr8:142875795 [GRCh38] Chr8:143957211 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1020G>C (p.Leu340=) | single nucleotide variant | not provided [RCV000934840] | Chr8:142875813 [GRCh38] Chr8:143957229 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.913A>T (p.Lys305Ter) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002251185] | Chr8:142876282 [GRCh38] Chr8:143957698 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.1214del (p.Val405fs) | deletion | Deficiency of steroid 11-beta-monooxygenase [RCV002251187] | Chr8:142875141 [GRCh38] Chr8:143956557 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.798C>T (p.Tyr266=) | single nucleotide variant | not provided [RCV001665493] | Chr8:142876683 [GRCh38] Chr8:143958099 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1122-80T>G | single nucleotide variant | not provided [RCV001656274] | Chr8:142875392 [GRCh38] Chr8:143956808 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.1122-75C>G | single nucleotide variant | not provided [RCV001720624] | Chr8:142875387 [GRCh38] Chr8:143956803 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.800-75T>G | single nucleotide variant | not provided [RCV001639539] | Chr8:142876470 [GRCh38] Chr8:143957886 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.1121+49G>A | single nucleotide variant | not provided [RCV001641726] | Chr8:142875663 [GRCh38] Chr8:143957079 [GRCh37] Chr8:8q24.3 |
benign |
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 | copy number gain | not provided [RCV001006140] | Chr8:121042467..146295771 [GRCh37] Chr8:8q24.12-24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.*244C>T | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001161579]|Glucocorticoid-remediable aldosteronism [RCV001161580] | Chr8:142874129 [GRCh38] Chr8:143955545 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.736C>T (p.Arg246Cys) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001161806]|Glucocorticoid-remediable aldosteronism [RCV001161805] | Chr8:142876745 [GRCh38] Chr8:143958161 [GRCh37] Chr8:8q24.3 |
benign|uncertain significance |
NM_000497.4(CYP11B1):c.*1264A>C | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001162784]|Glucocorticoid-remediable aldosteronism [RCV001162783] | Chr8:142873109 [GRCh38] Chr8:143954525 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.957G>A (p.Thr319=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001163212]|Glucocorticoid-remediable aldosteronism [RCV001163211] | Chr8:142875876 [GRCh38] Chr8:143957292 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.206A>G (p.His69Arg) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001163729]|Glucocorticoid-remediable aldosteronism [RCV001163730] | Chr8:142879608 [GRCh38] Chr8:143961024 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.802G>A (p.Asp268Asn) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001158583]|Glucocorticoid-remediable aldosteronism [RCV001158582] | Chr8:142876393 [GRCh38] Chr8:143957809 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.746G>A (p.Ser249Asn) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001158584]|Glucocorticoid-remediable aldosteronism [RCV001158585] | Chr8:142876735 [GRCh38] Chr8:143958151 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.*1929A>C | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001161123]|Glucocorticoid-remediable aldosteronism [RCV001161122] | Chr8:142872444 [GRCh38] Chr8:143953860 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.*1476G>C | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001161230]|Glucocorticoid-remediable aldosteronism [RCV001161229] | Chr8:142872897 [GRCh38] Chr8:143954313 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.*516A>T | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001161467]|Glucocorticoid-remediable aldosteronism [RCV001161468] | Chr8:142873857 [GRCh38] Chr8:143955273 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.*1979G>A | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001159724]|Glucocorticoid-remediable aldosteronism [RCV001159723] | Chr8:142872394 [GRCh38] Chr8:143953810 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.*1944G>A | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001161121]|Glucocorticoid-remediable aldosteronism [RCV001161120] | Chr8:142872429 [GRCh38] Chr8:143953845 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1358G>A (p.Arg453Gln) | single nucleotide variant | Congenital adrenal hyperplasia [RCV002282447]|Deficiency of steroid 11-beta-monooxygenase [RCV002497451]|Deficiency of steroid 11-beta-monooxygenase [RCV004570261]|not provided [RCV001063066] | Chr8:142874997 [GRCh38] Chr8:143956413 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.955-62G>T | single nucleotide variant | not provided [RCV001667436] | Chr8:142875940 [GRCh38] Chr8:143957356 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.1121+163T>C | single nucleotide variant | not provided [RCV001710790] | Chr8:142875549 [GRCh38] Chr8:143956965 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.890C>T (p.Ala297Val) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001535982] | Chr8:142876305 [GRCh38] Chr8:143957721 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.799+140C>T | single nucleotide variant | not provided [RCV001694924] | Chr8:142876542 [GRCh38] Chr8:142876542..142876543 [GRCh38] Chr8:143957958 [GRCh37] Chr8:143957958..143957959 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.*1313C>T | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001162780]|Glucocorticoid-remediable aldosteronism [RCV001162779] | Chr8:142873060 [GRCh38] Chr8:143954476 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1465T>C (p.Leu489=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001163111]|Glucocorticoid-remediable aldosteronism [RCV001163110]|not provided [RCV001408631]|not specified [RCV003155365] | Chr8:142874420 [GRCh38] Chr8:143955836 [GRCh37] Chr8:8q24.3 |
likely benign|uncertain significance |
NM_000497.4(CYP11B1):c.595+14G>A | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001163321]|Glucocorticoid-remediable aldosteronism [RCV001163322]|not provided [RCV003574853] | Chr8:142877009 [GRCh38] Chr8:143958425 [GRCh37] Chr8:8q24.3 |
likely benign|uncertain significance |
NM_000497.4(CYP11B1):c.799+119T>G | single nucleotide variant | not provided [RCV001679566] | Chr8:142876563 [GRCh38] Chr8:143957979 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.263T>C (p.Met88Thr) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001161919]|Glucocorticoid-remediable aldosteronism [RCV001161918] | Chr8:142879164 [GRCh38] Chr8:143960580 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.596-41C>T | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001250134]|not provided [RCV001655702] | Chr8:142876926 [GRCh38] Chr8:143958342 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.1136G>T (p.Gly379Val) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV003469377]|not provided [RCV001219956] | Chr8:142875298 [GRCh38] Chr8:143956714 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.218A>G (p.Gln73Arg) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001163727]|Glucocorticoid-remediable aldosteronism [RCV001163728] | Chr8:142879596 [GRCh38] Chr8:143961012 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.450G>A (p.Ser150=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001165424]|Glucocorticoid-remediable aldosteronism [RCV001165425]|not provided [RCV001405078] | Chr8:142877168 [GRCh38] Chr8:143958584 [GRCh37] Chr8:8q24.3 |
likely benign|uncertain significance |
NM_000497.4(CYP11B1):c.982_994del (p.Phe328fs) | deletion | not provided [RCV001210763] | Chr8:142875839..142875851 [GRCh38] Chr8:143957255..143957267 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.*345C>A | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001158368]|Glucocorticoid-remediable aldosteronism [RCV001158367] | Chr8:142874028 [GRCh38] Chr8:143955444 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.*1253G>T | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001164851]|Glucocorticoid-remediable aldosteronism [RCV001164850] | Chr8:142873120 [GRCh38] Chr8:143954536 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.541C>T (p.Arg181Trp) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001165422]|Deficiency of steroid 11-beta-monooxygenase [RCV002483922]|Glucocorticoid-remediable aldosteronism [RCV001165423] | Chr8:142877077 [GRCh38] Chr8:143958493 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.*1012A>C | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001161343]|Glucocorticoid-remediable aldosteronism [RCV001161344] | Chr8:142873361 [GRCh38] Chr8:143954777 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.*946G>A | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001161346]|Glucocorticoid-remediable aldosteronism [RCV001161345] | Chr8:142873427 [GRCh38] Chr8:143954843 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.*607C>T | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001161463]|Glucocorticoid-remediable aldosteronism [RCV001161464] | Chr8:142873766 [GRCh38] Chr8:143955182 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.632T>C (p.Leu211Pro) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001161807]|Glucocorticoid-remediable aldosteronism [RCV001161808]|Inborn genetic diseases [RCV004032854] | Chr8:142876849 [GRCh38] Chr8:143958265 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.938C>A (p.Ala313Glu) | single nucleotide variant | Inborn genetic diseases [RCV004608400] | Chr8:142876257 [GRCh38] Chr8:143957673 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NC_000008.11:g.142880001TCC[2] | microsatellite | not provided [RCV001662982] | Chr8:142879999..142880001 [GRCh38] Chr8:143961415..143961417 [GRCh37] Chr8:8q24.3 |
benign |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) | copy number gain | Polydactyly [RCV002280629] | Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 | copy number gain | See cases [RCV002285066] | Chr8:84712253..146295771 [GRCh37] Chr8:8q21.2-24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.850C>T (p.Gln284Ter) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001264085] | Chr8:142876345 [GRCh38] Chr8:143957761 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.825T>G (p.Tyr275Ter) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001264086] | Chr8:142876370 [GRCh38] Chr8:143957786 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.425T>A (p.Leu142Ter) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001264087] | Chr8:142877193 [GRCh38] Chr8:143958609 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.1438del (p.Asp480fs) | deletion | Deficiency of steroid 11-beta-monooxygenase [RCV001290137] | Chr8:142874447 [GRCh38] Chr8:143955863 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.1343G>C (p.Arg448Pro) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001332501]|Glucocorticoid-remediable aldosteronism [RCV003989685] | Chr8:142875012 [GRCh38] Chr8:143956428 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.596-8C>T | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002493949]|not provided [RCV001397543] | Chr8:142876893 [GRCh38] Chr8:143958309 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.946G>A (p.Val316Met) | single nucleotide variant | CYP11B1-related disorder [RCV004751955]|Deficiency of steroid 11-beta-monooxygenase [RCV001290136]|not provided [RCV002541804] | Chr8:142876249 [GRCh38] Chr8:143957665 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
NM_000497.4(CYP11B1):c.1325_1332del (p.Pro442fs) | deletion | Deficiency of steroid 11-beta-monooxygenase [RCV002250741]|not provided [RCV001269700] | Chr8:142875023..142875030 [GRCh38] Chr8:143956439..143956446 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.1440C>T (p.Asp480=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002499904]|not provided [RCV001421231] | Chr8:142874445 [GRCh38] Chr8:143955861 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.810T>C (p.Cys270=) | single nucleotide variant | not provided [RCV001412779] | Chr8:142876385 [GRCh38] Chr8:143957801 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.29G>A (p.Cys10Tyr) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002493832]|not provided [RCV001358047] | Chr8:142879785 [GRCh38] Chr8:143961201 [GRCh37] Chr8:8q24.3 |
likely benign|uncertain significance |
NM_000497.4(CYP11B1):c.199del (p.Glu67fs) | deletion | Congenital adrenal hyperplasia [RCV003331773] | Chr8:142879615 [GRCh38] Chr8:143961031 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.954+9G>A | single nucleotide variant | not provided [RCV001481340] | Chr8:142876232 [GRCh38] Chr8:143957648 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.900G>A (p.Ser300=) | single nucleotide variant | not provided [RCV001454634] | Chr8:142876295 [GRCh38] Chr8:143957711 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1089C>G (p.Pro363=) | single nucleotide variant | not provided [RCV001416748] | Chr8:142875744 [GRCh38] Chr8:143957160 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.201A>G (p.Glu67=) | single nucleotide variant | not provided [RCV001492485] | Chr8:142879613 [GRCh38] Chr8:143961029 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.954+8C>T | single nucleotide variant | not provided [RCV001405039] | Chr8:142876233 [GRCh38] Chr8:143957649 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.595+7G>A | single nucleotide variant | not provided [RCV001399538] | Chr8:142877016 [GRCh38] Chr8:143958432 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.132T>A (p.Arg44=) | single nucleotide variant | not provided [RCV001479840] | Chr8:142879682 [GRCh38] Chr8:143961098 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1404G>A (p.Leu468=) | single nucleotide variant | not provided [RCV001441709] | Chr8:142874481 [GRCh38] Chr8:143955897 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.726del (p.Ser243fs) | deletion | Congenital adrenal hyperplasia [RCV001806163]|Deficiency of steroid 11-beta-monooxygenase [RCV002476727]|not provided [RCV001385193] | Chr8:142876755 [GRCh38] Chr8:143958171 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
NM_000497.4(CYP11B1):c.73G>A (p.Gly25Ser) | single nucleotide variant | not provided [RCV001488844] | Chr8:142879741 [GRCh38] Chr8:143961157 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.867C>T (p.Ile289=) | single nucleotide variant | not provided [RCV001428743] | Chr8:142876328 [GRCh38] Chr8:143957744 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.678C>T (p.Ala226=) | single nucleotide variant | not provided [RCV001480212] | Chr8:142876803 [GRCh38] Chr8:143958219 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.291G>C (p.Val97=) | single nucleotide variant | not provided [RCV001466662] | Chr8:142879136 [GRCh38] Chr8:143960552 [GRCh37] Chr8:8q24.3 |
likely benign |
GRCh37/hg19 8q24.3(chr8:143958418-143996344) | copy number loss | Corticosterone 18-monooxygenase deficiency [RCV001536131] | Chr8:143958418..143996344 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.1215G>T (p.Val405=) | single nucleotide variant | not provided [RCV001504293] | Chr8:142875140 [GRCh38] Chr8:143956556 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.507C>G (p.Ser169=) | single nucleotide variant | not provided [RCV001466916] | Chr8:142877111 [GRCh38] Chr8:143958527 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1500A>G (p.Arg500=) | single nucleotide variant | not provided [RCV001491752] | Chr8:142874385 [GRCh38] Chr8:143955801 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.157C>T (p.Leu53=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002495673]|not provided [RCV001463995] | Chr8:142879657 [GRCh38] Chr8:143961073 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.456C>T (p.Asn152=) | single nucleotide variant | not provided [RCV001481557] | Chr8:142877162 [GRCh38] Chr8:143958578 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.555C>T (p.Thr185=) | single nucleotide variant | not provided [RCV001514419] | Chr8:142877063 [GRCh38] Chr8:143958479 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.1005C>T (p.Asn335=) | single nucleotide variant | not provided [RCV001467570] | Chr8:142875828 [GRCh38] Chr8:143957244 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.222A>G (p.Glu74=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002488279]|not provided [RCV001477677] | Chr8:142879592 [GRCh38] Chr8:143961008 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.48G>T (p.Leu16=) | single nucleotide variant | not provided [RCV001402225] | Chr8:142879766 [GRCh38] Chr8:143961182 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.267G>A (p.Val89=) | single nucleotide variant | not provided [RCV001439500] | Chr8:142879160 [GRCh38] Chr8:143960576 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.48G>C (p.Leu16=) | single nucleotide variant | not provided [RCV001404499] | Chr8:142879766 [GRCh38] Chr8:143961182 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.477G>C (p.Pro159=) | single nucleotide variant | not provided [RCV001430466] | Chr8:142877141 [GRCh38] Chr8:143958557 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1296G>A (p.Arg432=) | single nucleotide variant | not provided [RCV001397964] | Chr8:142875059 [GRCh38] Chr8:143956475 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.138C>T (p.Gly46=) | single nucleotide variant | not provided [RCV001441225] | Chr8:142879676 [GRCh38] Chr8:143961092 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.395+9C>G | single nucleotide variant | not provided [RCV001430647] | Chr8:142879023 [GRCh38] Chr8:143960439 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1116C>A (p.Thr372=) | single nucleotide variant | not provided [RCV001439017] | Chr8:142875717 [GRCh38] Chr8:143957133 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1245C>G (p.Ala415=) | single nucleotide variant | not provided [RCV001431112] | Chr8:142875110 [GRCh38] Chr8:143956526 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.642_643del (p.His214fs) | microsatellite | Deficiency of steroid 11-beta-monooxygenase [RCV003463035]|not provided [RCV001390097] | Chr8:142876838..142876839 [GRCh38] Chr8:143958254..143958255 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
NM_000497.4(CYP11B1):c.240-7C>T | single nucleotide variant | not provided [RCV001447181] | Chr8:142879194 [GRCh38] Chr8:143960610 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.799+1G>A | single nucleotide variant | not provided [RCV001379349] | Chr8:142876681 [GRCh38] Chr8:143958097 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.78G>A (p.Thr26=) | single nucleotide variant | not provided [RCV001444842] | Chr8:142879736 [GRCh38] Chr8:143961152 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1204T>C (p.Leu402=) | single nucleotide variant | not provided [RCV001417767] | Chr8:142875151 [GRCh38] Chr8:143956567 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.396-10G>C | single nucleotide variant | not provided [RCV001444896] | Chr8:142877232 [GRCh38] Chr8:143958648 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.270T>C (p.Cys90=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002495626]|not provided [RCV001445243] | Chr8:142879157 [GRCh38] Chr8:143960573 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1212C>G (p.Arg404=) | single nucleotide variant | not provided [RCV001411079] | Chr8:142875143 [GRCh38] Chr8:143956559 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.441A>G (p.Glu147=) | single nucleotide variant | not provided [RCV001431817] | Chr8:142877177 [GRCh38] Chr8:143958593 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1008G>C (p.Val336=) | single nucleotide variant | not provided [RCV001429638] | Chr8:142875825 [GRCh38] Chr8:143957241 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.726G>A (p.Arg242=) | single nucleotide variant | not provided [RCV001429667] | Chr8:142876755 [GRCh38] Chr8:143958171 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.99G>A (p.Arg33=) | single nucleotide variant | not provided [RCV001411473] | Chr8:142879715 [GRCh38] Chr8:143961131 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1308G>A (p.Arg436=) | single nucleotide variant | not provided [RCV001445714] | Chr8:142875047 [GRCh38] Chr8:143956463 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.970C>T (p.Leu324=) | single nucleotide variant | not provided [RCV001393846] | Chr8:142875863 [GRCh38] Chr8:143957279 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1200+1G>A | single nucleotide variant | not provided [RCV001384468] | Chr8:142875233 [GRCh38] Chr8:143956649 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.1209G>A (p.Val403=) | single nucleotide variant | not provided [RCV001439243] | Chr8:142875146 [GRCh38] Chr8:143956562 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1080C>G (p.Thr360=) | single nucleotide variant | not provided [RCV001468527] | Chr8:142875753 [GRCh38] Chr8:143957169 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.450G>T (p.Ser150=) | single nucleotide variant | not provided [RCV001490501] | Chr8:142877168 [GRCh38] Chr8:143958584 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1398+126C>G | single nucleotide variant | not provided [RCV001670592] | Chr8:142874831 [GRCh38] Chr8:143956247 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.1269T>C (p.Tyr423=) | single nucleotide variant | not provided [RCV001468809] | Chr8:142875086 [GRCh38] Chr8:143956502 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.453C>T (p.Pro151=) | single nucleotide variant | not provided [RCV001490601] | Chr8:142877165 [GRCh38] Chr8:143958581 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1398+8G>A | single nucleotide variant | not provided [RCV001474115] | Chr8:142874949 [GRCh38] Chr8:143956365 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1422G>A (p.Glu474=) | single nucleotide variant | not provided [RCV001451332] | Chr8:142874463 [GRCh38] Chr8:143955879 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.93C>A (p.Val31=) | single nucleotide variant | not provided [RCV001496477] | Chr8:142879721 [GRCh38] Chr8:143961137 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1041C>T (p.Ala347=) | single nucleotide variant | not provided [RCV001479577] | Chr8:142875792 [GRCh38] Chr8:143957208 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.955-111T>G | single nucleotide variant | not provided [RCV001643887] | Chr8:142875989 [GRCh38] Chr8:143957405 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.1047C>G (p.Ala349=) | single nucleotide variant | not provided [RCV001452420] | Chr8:142875786 [GRCh38] Chr8:143957202 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.899C>G (p.Ser300Trp) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002502010]|not provided [RCV001665494] | Chr8:142876296 [GRCh38] Chr8:143957712 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1107C>T (p.Leu369=) | single nucleotide variant | not provided [RCV001483630] | Chr8:142875726 [GRCh38] Chr8:143957142 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1128C>T (p.Tyr376=) | single nucleotide variant | not provided [RCV001459416] | Chr8:142875306 [GRCh38] Chr8:143956722 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.948G>C (p.Val316=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002488284]|not provided [RCV001480482] | Chr8:142876247 [GRCh38] Chr8:143957663 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1255A>C (p.Arg419=) | single nucleotide variant | not provided [RCV001471032] | Chr8:142875100 [GRCh38] Chr8:143956516 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.204A>G (p.Val68=) | single nucleotide variant | not provided [RCV001463797] | Chr8:142879610 [GRCh38] Chr8:143961026 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.955-7C>T | single nucleotide variant | not provided [RCV001453435] | Chr8:142875885 [GRCh38] Chr8:143957301 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1395C>T (p.His465=) | single nucleotide variant | not provided [RCV001460890] | Chr8:142874960 [GRCh38] Chr8:143956376 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.351G>A (p.Val117=) | single nucleotide variant | not provided [RCV001478647] | Chr8:142879076 [GRCh38] Chr8:143960492 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.954+1G>A | single nucleotide variant | not provided [RCV001386865] | Chr8:142876240 [GRCh38] Chr8:143957656 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.421C>T (p.Arg141Ter) | single nucleotide variant | Congenital adrenal hyperplasia [RCV001779162]|Deficiency of steroid 11-beta-monooxygenase [RCV003469726]|not provided [RCV001386866] | Chr8:142877197 [GRCh38] Chr8:143958613 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.1239C>T (p.Asn413=) | single nucleotide variant | not provided [RCV001473273] | Chr8:142875116 [GRCh38] Chr8:143956532 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1227T>G (p.Ser409=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002488218]|not provided [RCV001403255] | Chr8:142875128 [GRCh38] Chr8:143956544 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.84C>T (p.Ala28=) | single nucleotide variant | not provided [RCV001403260] | Chr8:142879730 [GRCh38] Chr8:143961146 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1320C>T (p.His440=) | single nucleotide variant | not provided [RCV001500064] | Chr8:142875035 [GRCh38] Chr8:143956451 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.246_247delinsTC (p.Asp82_Leu83=) | indel | not provided [RCV001464735] | Chr8:142879180..142879181 [GRCh38] Chr8:143960596..143960597 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.190C>T (p.Leu64=) | single nucleotide variant | not provided [RCV001438078] | Chr8:142879624 [GRCh38] Chr8:143961040 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1168T>C (p.Leu390=) | single nucleotide variant | not provided [RCV001481620] | Chr8:142875266 [GRCh38] Chr8:143956682 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.483G>C (p.Val161=) | single nucleotide variant | not provided [RCV001485951] | Chr8:142877135 [GRCh38] Chr8:143958551 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1402C>T (p.Leu468=) | single nucleotide variant | not provided [RCV001496042] | Chr8:142874483 [GRCh38] Chr8:143955899 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.414C>T (p.Arg138=) | single nucleotide variant | not provided [RCV001460611] | Chr8:142877204 [GRCh38] Chr8:143958620 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1218C>T (p.Phe406=) | single nucleotide variant | not provided [RCV001474321] | Chr8:142875137 [GRCh38] Chr8:143956553 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1158G>A (p.Ala386=) | single nucleotide variant | not provided [RCV001510347] | Chr8:142875276 [GRCh38] Chr8:143956692 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.595+8C>A | single nucleotide variant | not provided [RCV001451628] | Chr8:142877015 [GRCh38] Chr8:143958431 [GRCh37] Chr8:8q24.3 |
likely benign|conflicting interpretations of pathogenicity |
NM_000497.4(CYP11B1):c.240-5del | deletion | not provided [RCV001467594] | Chr8:142879192 [GRCh38] Chr8:143960608 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.891G>C (p.Ala297=) | single nucleotide variant | not provided [RCV001415503] | Chr8:142876304 [GRCh38] Chr8:143957720 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.9C>T (p.Leu3=) | single nucleotide variant | not provided [RCV001463108] | Chr8:142879805 [GRCh38] Chr8:143961221 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.546G>A (p.Gly182=) | single nucleotide variant | not provided [RCV001505213] | Chr8:142877072 [GRCh38] Chr8:143958488 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1494C>T (p.Thr498=) | single nucleotide variant | not provided [RCV001503680] | Chr8:142874391 [GRCh38] Chr8:143955807 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.596-4G>A | single nucleotide variant | not provided [RCV001436347] | Chr8:142876889 [GRCh38] Chr8:143958305 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.396-6C>T | single nucleotide variant | not provided [RCV001425460] | Chr8:142877228 [GRCh38] Chr8:143958644 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.395+10G>C | single nucleotide variant | not provided [RCV001461509] | Chr8:142879022 [GRCh38] Chr8:143960438 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.837C>T (p.Ala279=) | single nucleotide variant | not provided [RCV001452116] | Chr8:142876358 [GRCh38] Chr8:143957774 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.537C>T (p.Asn179=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002488232]|not provided [RCV001416128] | Chr8:142877081 [GRCh38] Chr8:143958497 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1080C>T (p.Thr360=) | single nucleotide variant | not provided [RCV001483798] | Chr8:142875753 [GRCh38] Chr8:143957169 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.474C>T (p.Leu158=) | single nucleotide variant | not provided [RCV001430518] | Chr8:142877144 [GRCh38] Chr8:143958560 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1425A>G (p.Thr475=) | single nucleotide variant | not provided [RCV001424100] | Chr8:142874460 [GRCh38] Chr8:143955876 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1389G>C (p.Leu463=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002501579]|not provided [RCV001450223] | Chr8:142874966 [GRCh38] Chr8:143956382 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1302C>T (p.Ser434=) | single nucleotide variant | not provided [RCV001499724] | Chr8:142875053 [GRCh38] Chr8:143956469 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.282G>A (p.Pro94=) | single nucleotide variant | not provided [RCV001435811] | Chr8:142879145 [GRCh38] Chr8:143960561 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.966C>T (p.Pro322=) | single nucleotide variant | not provided [RCV001482600] | Chr8:142875867 [GRCh38] Chr8:143957283 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.799G>A (p.Gly267Ser) | single nucleotide variant | Glucocorticoid-remediable aldosteronism [RCV002249852]|not provided [RCV003094023] | Chr8:142876682 [GRCh38] Chr8:143958098 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
NM_000497.4(CYP11B1):c.1359dup (p.Arg454fs) | duplication | Congenital adrenal hyperplasia [RCV002240087]|Deficiency of steroid 11-beta-monooxygenase [RCV002496178]|Deficiency of steroid 11-beta-monooxygenase [RCV003471296] | Chr8:142874995..142874996 [GRCh38] Chr8:143956411..143956412 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
NM_000497.4(CYP11B1):c.622C>T (p.Arg208Trp) | single nucleotide variant | Inborn genetic diseases [RCV004040198]|not provided [RCV001756984] | Chr8:142876859 [GRCh38] Chr8:143958275 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1375G>A (p.Glu459Lys) | single nucleotide variant | not provided [RCV001797535] | Chr8:142874980 [GRCh38] Chr8:143956396 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.457G>A (p.Ala153Thr) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002478062]|not specified [RCV001817652] | Chr8:142877161 [GRCh38] Chr8:143958577 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.954+31G>A | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV001807988] | Chr8:142876210 [GRCh38] Chr8:143957626 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.853_854insTACT (p.Gln285fs) | insertion | Deficiency of steroid 11-beta-monooxygenase [RCV003471199]|not provided [RCV001983015] | Chr8:142876341..142876342 [GRCh38] Chr8:143957757..143957758 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
NM_000497.4(CYP11B1):c.449C>A (p.Ser150Ter) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV003470993]|not provided [RCV001895798] | Chr8:142877169 [GRCh38] Chr8:143958585 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
NM_000497.4(CYP11B1):c.520A>T (p.Lys174Ter) | single nucleotide variant | not provided [RCV001895527] | Chr8:142877098 [GRCh38] Chr8:143958514 [GRCh37] Chr8:8q24.3 |
pathogenic |
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) | copy number gain | not specified [RCV002053772] | Chr8:70382990..146295771 [GRCh37] Chr8:8q13.2-24.3 |
pathogenic |
GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771) | copy number gain | not specified [RCV002053797] | Chr8:130863093..146295771 [GRCh37] Chr8:8q24.21-24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.240-2A>G | single nucleotide variant | not provided [RCV002021422] | Chr8:142879189 [GRCh38] Chr8:143960605 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.518A>G (p.Lys173Arg) | single nucleotide variant | not provided [RCV002074403]|not specified [RCV001844509] | Chr8:142877100 [GRCh38] Chr8:143958516 [GRCh37] Chr8:8q24.3 |
likely benign|uncertain significance |
NM_000497.4(CYP11B1):c.1179_1180dup (p.Asn394fs) | duplication | Deficiency of steroid 11-beta-monooxygenase [RCV002279773]|not provided [RCV001909041] | Chr8:142875253..142875254 [GRCh38] Chr8:143956669..143956670 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
NM_000497.4(CYP11B1):c.546dup (p.Ser183fs) | duplication | not provided [RCV001942319] | Chr8:142877071..142877072 [GRCh38] Chr8:143958487..143958488 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.954+1G>C | single nucleotide variant | not provided [RCV001942036] | Chr8:142876240 [GRCh38] Chr8:143957656 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.907del (p.Ala303fs) | deletion | Deficiency of steroid 11-beta-monooxygenase [RCV003471159]|not provided [RCV001942054] | Chr8:142876288 [GRCh38] Chr8:143957704 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
NM_000497.4(CYP11B1):c.954G>C (p.Thr318=) | single nucleotide variant | not provided [RCV001963560] | Chr8:142876241 [GRCh38] Chr8:143957657 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.1342C>T (p.Arg448Cys) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV003471195]|not provided [RCV001959022] | Chr8:142875013 [GRCh38] Chr8:143956429 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.281C>A (p.Pro94Gln) | single nucleotide variant | not provided [RCV002019554] | Chr8:142879146 [GRCh38] Chr8:143960562 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.1151G>T (p.Arg384Leu) | single nucleotide variant | not provided [RCV002026610] | Chr8:142875283 [GRCh38] Chr8:143956699 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.124C>G (p.Pro42Ala) | single nucleotide variant | not provided [RCV002033028] | Chr8:142879690 [GRCh38] Chr8:143961106 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.596-2A>T | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV003464351]|not provided [RCV001994155] | Chr8:142876887 [GRCh38] Chr8:143958303 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
NC_000008.10:g.(?_143822561)_(145743168_?)dup | duplication | Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV003107890]|Holoprosencephaly sequence [RCV003107891]|not provided [RCV001922894] | Chr8:143822561..145743168 [GRCh37] Chr8:8q24.3 |
uncertain significance|no classifications from unflagged records |
NM_000497.4(CYP11B1):c.348G>C (p.Trp116Cys) | single nucleotide variant | Congenital adrenal hyperplasia [RCV004770317]|not provided [RCV001956178] | Chr8:142879079 [GRCh38] Chr8:143960495 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.610_611del (p.Leu204fs) | microsatellite | not provided [RCV001938651] | Chr8:142876870..142876871 [GRCh38] Chr8:143958286..143958287 [GRCh37] Chr8:8q24.3 |
pathogenic |
NC_000008.10:g.(?_143955779)_(143958311_?)del | deletion | not provided [RCV002035561] | Chr8:143955779..143958311 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
NM_000497.4(CYP11B1):c.124C>A (p.Pro42Thr) | single nucleotide variant | not provided [RCV002048247] | Chr8:142879690 [GRCh38] Chr8:143961106 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.793C>T (p.Gln265Ter) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV003471042]|not provided [RCV001918990] | Chr8:142876688 [GRCh38] Chr8:143958104 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.1151G>C (p.Arg384Pro) | single nucleotide variant | not provided [RCV002033582] | Chr8:142875283 [GRCh38] Chr8:143956699 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.1215G>C (p.Val405=) | single nucleotide variant | not provided [RCV002166401] | Chr8:142875140 [GRCh38] Chr8:143956556 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.132T>C (p.Arg44=) | single nucleotide variant | not provided [RCV002186103] | Chr8:142879682 [GRCh38] Chr8:143961098 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.183T>C (p.Tyr61=) | single nucleotide variant | not provided [RCV002207139] | Chr8:142879631 [GRCh38] Chr8:143961047 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.239+8C>T | single nucleotide variant | not provided [RCV002086346] | Chr8:142879567 [GRCh38] Chr8:143960983 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1029G>A (p.Glu343=) | single nucleotide variant | not provided [RCV002091061] | Chr8:142875804 [GRCh38] Chr8:143957220 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.807C>T (p.Asn269=) | single nucleotide variant | not provided [RCV002107488] | Chr8:142876388 [GRCh38] Chr8:143957804 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.702C>G (p.Thr234=) | single nucleotide variant | not provided [RCV002207620] | Chr8:142876779 [GRCh38] Chr8:143958195 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1201-8G>C | single nucleotide variant | not provided [RCV002129896] | Chr8:142875162 [GRCh38] Chr8:143956578 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.72G>C (p.Leu24=) | single nucleotide variant | not provided [RCV002125299] | Chr8:142879742 [GRCh38] Chr8:143961158 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1329T>C (p.Phe443=) | single nucleotide variant | not provided [RCV002210745] | Chr8:142875026 [GRCh38] Chr8:143956442 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.955-9C>G | single nucleotide variant | not provided [RCV002170134] | Chr8:142875887 [GRCh38] Chr8:143957303 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.396-9C>T | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002494130]|not provided [RCV002205811] | Chr8:142877231 [GRCh38] Chr8:143958647 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.489A>G (p.Ala163=) | single nucleotide variant | not provided [RCV002189171] | Chr8:142877129 [GRCh38] Chr8:143958545 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1032C>T (p.Ser344=) | single nucleotide variant | not provided [RCV002129173] | Chr8:142875801 [GRCh38] Chr8:143957217 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.595+9C>T | single nucleotide variant | not provided [RCV002206454] | Chr8:142877014 [GRCh38] Chr8:143958430 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.627G>T (p.Leu209=) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002494241]|not provided [RCV002108002] | Chr8:142876854 [GRCh38] Chr8:143958270 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.942G>A (p.Gly314=) | single nucleotide variant | not provided [RCV002206246] | Chr8:142876253 [GRCh38] Chr8:143957669 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.90G>A (p.Arg30=) | single nucleotide variant | not provided [RCV002188496] | Chr8:142879724 [GRCh38] Chr8:143961140 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.756G>A (p.Val252=) | single nucleotide variant | not provided [RCV002111117] | Chr8:142876725 [GRCh38] Chr8:143958141 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1201-9C>T | single nucleotide variant | not provided [RCV002109453] | Chr8:142875163 [GRCh38] Chr8:143956579 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.596-10C>T | single nucleotide variant | not provided [RCV002188953] | Chr8:142876895 [GRCh38] Chr8:143958311 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.339G>A (p.Leu113=) | single nucleotide variant | not provided [RCV002165325] | Chr8:142879088 [GRCh38] Chr8:143960504 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1104C>A (p.Ala368=) | single nucleotide variant | not provided [RCV002210211] | Chr8:142875729 [GRCh38] Chr8:143957145 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.477G>A (p.Pro159=) | single nucleotide variant | not provided [RCV002084806] | Chr8:142877141 [GRCh38] Chr8:143958557 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.867C>A (p.Ile289=) | single nucleotide variant | not provided [RCV002195032] | Chr8:142876328 [GRCh38] Chr8:143957744 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.546G>T (p.Gly182=) | single nucleotide variant | not provided [RCV002133942] | Chr8:142877072 [GRCh38] Chr8:143958488 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.239+7C>T | single nucleotide variant | not provided [RCV002078253] | Chr8:142879568 [GRCh38] Chr8:143960984 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.54G>A (p.Leu18=) | single nucleotide variant | not provided [RCV002115277] | Chr8:142879760 [GRCh38] Chr8:143961176 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.438A>C (p.Pro146=) | single nucleotide variant | not provided [RCV002087116] | Chr8:142877180 [GRCh38] Chr8:143958596 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1398+9G>A | single nucleotide variant | not provided [RCV002192132] | Chr8:142874948 [GRCh38] Chr8:143956364 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.730C>T (p.Leu244=) | single nucleotide variant | not provided [RCV002215114] | Chr8:142876751 [GRCh38] Chr8:143958167 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.672C>T (p.Leu224=) | single nucleotide variant | not provided [RCV002078853] | Chr8:142876809 [GRCh38] Chr8:143958225 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1201-6C>T | single nucleotide variant | not provided [RCV002078039] | Chr8:142875160 [GRCh38] Chr8:143956576 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.921C>T (p.Asn307=) | single nucleotide variant | not provided [RCV002097670] | Chr8:142876274 [GRCh38] Chr8:143957690 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1017C>A (p.Ala339=) | single nucleotide variant | not provided [RCV002214582] | Chr8:142875816 [GRCh38] Chr8:143957232 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1065C>G (p.Pro355=) | single nucleotide variant | not provided [RCV002195616] | Chr8:142875768 [GRCh38] Chr8:143957184 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1242C>T (p.Pro414=) | single nucleotide variant | not provided [RCV002215891] | Chr8:142875113 [GRCh38] Chr8:143956529 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.102A>G (p.Thr34=) | single nucleotide variant | not provided [RCV002192926] | Chr8:142879712 [GRCh38] Chr8:143961128 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.870G>A (p.Val290=) | single nucleotide variant | not provided [RCV002195521] | Chr8:142876325 [GRCh38] Chr8:143957741 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.24G>A (p.Glu8=) | single nucleotide variant | not provided [RCV002116395] | Chr8:142879790 [GRCh38] Chr8:143961206 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1254G>A (p.Pro418=) | single nucleotide variant | not provided [RCV002114188] | Chr8:142875101 [GRCh38] Chr8:143956517 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1201-4G>A | single nucleotide variant | not provided [RCV002094993] | Chr8:142875158 [GRCh38] Chr8:143956574 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1122-7C>T | single nucleotide variant | not provided [RCV002193888] | Chr8:142875319 [GRCh38] Chr8:143956735 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.800-6G>T | single nucleotide variant | not provided [RCV002132925] | Chr8:142876401 [GRCh38] Chr8:143957817 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.108G>T (p.Leu36=) | single nucleotide variant | not provided [RCV002150871] | Chr8:142879706 [GRCh38] Chr8:143961122 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.880C>T (p.Leu294=) | single nucleotide variant | not provided [RCV002159679] | Chr8:142876315 [GRCh38] Chr8:143957731 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.954+8C>A | single nucleotide variant | not provided [RCV002137386] | Chr8:142876233 [GRCh38] Chr8:143957649 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.955-13GT[4] | microsatellite | not provided [RCV002139330] | Chr8:142875887..142875888 [GRCh38] Chr8:143957303..143957304 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.93C>T (p.Val31=) | single nucleotide variant | not provided [RCV002181608] | Chr8:142879721 [GRCh38] Chr8:143961137 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1002C>T (p.Pro334=) | single nucleotide variant | not provided [RCV002124123] | Chr8:142875831 [GRCh38] Chr8:143957247 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.603C>T (p.Asn201=) | single nucleotide variant | not provided [RCV002217948] | Chr8:142876878 [GRCh38] Chr8:143958294 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.93C>G (p.Val31=) | single nucleotide variant | not provided [RCV002204849] | Chr8:142879721 [GRCh38] Chr8:143961137 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.729C>T (p.Ser243=) | single nucleotide variant | not provided [RCV002184468] | Chr8:142876752 [GRCh38] Chr8:143958168 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1086G>T (p.Leu362=) | single nucleotide variant | not provided [RCV002156064] | Chr8:142875747 [GRCh38] Chr8:143957163 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.861C>T (p.Thr287=) | single nucleotide variant | not provided [RCV002163560] | Chr8:142876334 [GRCh38] Chr8:143957750 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.240-10G>C | single nucleotide variant | not provided [RCV002119943] | Chr8:142879197 [GRCh38] Chr8:143960613 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.528G>T (p.Val176=) | single nucleotide variant | not provided [RCV002175980] | Chr8:142877090 [GRCh38] Chr8:143958506 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.883T>C (p.Leu295=) | single nucleotide variant | not provided [RCV002122080] | Chr8:142876312 [GRCh38] Chr8:143957728 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.588C>T (p.Thr196=) | single nucleotide variant | not provided [RCV002176267] | Chr8:142877030 [GRCh38] Chr8:143958446 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.395+8G>T | single nucleotide variant | not provided [RCV002160923] | Chr8:142879024 [GRCh38] Chr8:143960440 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1385del (p.Leu462fs) | deletion | Deficiency of steroid 11-beta-monooxygenase [RCV002251276] | Chr8:142874970 [GRCh38] Chr8:143956386 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.240-4A>T | single nucleotide variant | not provided [RCV002176751] | Chr8:142879191 [GRCh38] Chr8:143960607 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1263G>A (p.Glu421=) | single nucleotide variant | not provided [RCV002139041] | Chr8:142875092 [GRCh38] Chr8:143956508 [GRCh37] Chr8:8q24.3 |
likely benign |
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) | copy number gain | not provided [RCV002221452] | Chr8:96496503..146295711 [GRCh37] Chr8:8q22.1-24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.1107C>G (p.Leu369=) | single nucleotide variant | not provided [RCV002118726] | Chr8:142875726 [GRCh38] Chr8:143957142 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.396-8C>A | single nucleotide variant | not provided [RCV002162404] | Chr8:142877230 [GRCh38] Chr8:143958646 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.660C>T (p.Ser220=) | single nucleotide variant | not provided [RCV002180353] | Chr8:142876821 [GRCh38] Chr8:143958237 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.774G>A (p.Glu258=) | single nucleotide variant | not provided [RCV002216449] | Chr8:142876707 [GRCh38] Chr8:143958123 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1053C>T (p.Ile351=) | single nucleotide variant | not provided [RCV002121719] | Chr8:142875780 [GRCh38] Chr8:143957196 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.39G>T (p.Val13=) | single nucleotide variant | not provided [RCV002199831] | Chr8:142879775 [GRCh38] Chr8:143961191 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.240-8C>T | single nucleotide variant | not provided [RCV002183576] | Chr8:142879195 [GRCh38] Chr8:143960611 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.159G>A (p.Leu53=) | single nucleotide variant | not provided [RCV002183642] | Chr8:142879655 [GRCh38] Chr8:143961071 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1203A>T (p.Thr401=) | single nucleotide variant | not provided [RCV002141217] | Chr8:142875152 [GRCh38] Chr8:143956568 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.297G>A (p.Lys99=) | single nucleotide variant | not provided [RCV002156767] | Chr8:142879130 [GRCh38] Chr8:143960546 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.799+17G>A | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002494226]|not provided [RCV002122180] | Chr8:142876665 [GRCh38] Chr8:143958081 [GRCh37] Chr8:8q24.3 |
benign|likely benign |
NM_000497.4(CYP11B1):c.291G>A (p.Val97=) | single nucleotide variant | not provided [RCV002157026] | Chr8:142879136 [GRCh38] Chr8:143960552 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.90G>T (p.Arg30=) | single nucleotide variant | not provided [RCV002178266] | Chr8:142879724 [GRCh38] Chr8:143961140 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.239+156C>T | single nucleotide variant | not specified [RCV003123393] | Chr8:142879419 [GRCh38] Chr8:143960835 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.845G>A (p.Arg282His) | single nucleotide variant | Inborn genetic diseases [RCV004608399] | Chr8:142876350 [GRCh38] Chr8:143957766 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.596-2A>G | single nucleotide variant | Congenital adrenal hyperplasia [RCV002282830] | Chr8:142876887 [GRCh38] Chr8:143958303 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.954+3C>G | single nucleotide variant | not specified [RCV003236441] | Chr8:142876238 [GRCh38] Chr8:143957654 [GRCh37] Chr8:8q24.3 |
uncertain significance |
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 | copy number gain | See cases [RCV002292707] | Chr8:68912432..146295771 [GRCh37] Chr8:8q13.2-24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.1210_1212del (p.Arg404del) | deletion | Deficiency of steroid 11-beta-monooxygenase [RCV002269805] | Chr8:142875143..142875145 [GRCh38] Chr8:143956559..143956561 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.655G>A (p.Ala219Thr) | single nucleotide variant | Inborn genetic diseases [RCV003281426] | Chr8:142876826 [GRCh38] Chr8:143958242 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1265G>T (p.Arg422Leu) | single nucleotide variant | Inborn genetic diseases [RCV003259552] | Chr8:142875090 [GRCh38] Chr8:143956506 [GRCh37] Chr8:8q24.3 |
uncertain significance |
GRCh37/hg19 8q24.3(chr8:143895666-144568446)x3 | copy number gain | not provided [RCV002472598] | Chr8:143895666..144568446 [GRCh37] Chr8:8q24.3 |
uncertain significance |
GRCh37/hg19 8q24.3(chr8:142836592-144175046)x1 | copy number loss | not provided [RCV002473674] | Chr8:142836592..144175046 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.595+1G>C | single nucleotide variant | Congenital adrenal hyperplasia [RCV003230921] | Chr8:142877022 [GRCh38] Chr8:143958438 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.751_752insC (p.Lys251fs) | insertion | Deficiency of steroid 11-beta-monooxygenase [RCV002309422] | Chr8:142876729..142876730 [GRCh38] Chr8:143958145..143958146 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.693_694delinsT (p.Lys232fs) | indel | Deficiency of steroid 11-beta-monooxygenase [RCV002309467] | Chr8:142876787..142876788 [GRCh38] Chr8:143958203..143958204 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.712dup (p.Met238fs) | duplication | Deficiency of steroid 11-beta-monooxygenase [RCV002306490]|not provided [RCV003565516] | Chr8:142876768..142876769 [GRCh38] Chr8:143958184..143958185 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
NM_000497.4(CYP11B1):c.410G>A (p.Trp137Ter) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002306897] | Chr8:142877208 [GRCh38] Chr8:143958624 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.663_664del (p.Asn222fs) | deletion | Deficiency of steroid 11-beta-monooxygenase [RCV002307203] | Chr8:142876817..142876818 [GRCh38] Chr8:143958233..143958234 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.947dup (p.Asp317fs) | duplication | Deficiency of steroid 11-beta-monooxygenase [RCV002307082] | Chr8:142876247..142876248 [GRCh38] Chr8:143957663..143957664 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.793_794del (p.Gln265fs) | deletion | Deficiency of steroid 11-beta-monooxygenase [RCV002309163] | Chr8:142876687..142876688 [GRCh38] Chr8:143958103..143958104 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.811_812insAGAGGGAT (p.Ile271fs) | insertion | Deficiency of steroid 11-beta-monooxygenase [RCV002309563] | Chr8:142876383..142876384 [GRCh38] Chr8:143957799..143957800 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.814C>T (p.Gln272Ter) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002310011] | Chr8:142876381 [GRCh38] Chr8:143957797 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.694A>T (p.Lys232Ter) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV002308096] | Chr8:142876787 [GRCh38] Chr8:143958203 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.937del (p.Ala313fs) | deletion | Deficiency of steroid 11-beta-monooxygenase [RCV002306928] | Chr8:142876258 [GRCh38] Chr8:143957674 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.576C>T (p.Ile192=) | single nucleotide variant | not provided [RCV003014554] | Chr8:142877042 [GRCh38] Chr8:143958458 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1210C>T (p.Arg404Cys) | single nucleotide variant | not provided [RCV002727060] | Chr8:142875145 [GRCh38] Chr8:143956561 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1092G>A (p.Leu364=) | single nucleotide variant | not provided [RCV003012040] | Chr8:142875741 [GRCh38] Chr8:143957157 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.882G>C (p.Leu294=) | single nucleotide variant | not provided [RCV002881136] | Chr8:142876313 [GRCh38] Chr8:143957729 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1113G>A (p.Glu371=) | single nucleotide variant | not provided [RCV002858552] | Chr8:142875720 [GRCh38] Chr8:143957136 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.146G>A (p.Trp49Ter) | single nucleotide variant | not provided [RCV002908920] | Chr8:142879668 [GRCh38] Chr8:143961084 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.789C>T (p.Ile263=) | single nucleotide variant | not provided [RCV002843066] | Chr8:142876692 [GRCh38] Chr8:143958108 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.452C>T (p.Pro151Leu) | single nucleotide variant | Inborn genetic diseases [RCV002840329] | Chr8:142877166 [GRCh38] Chr8:143958582 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.804C>T (p.Asp268=) | single nucleotide variant | not provided [RCV002816190] | Chr8:142876391 [GRCh38] Chr8:143957807 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.330G>A (p.Arg110=) | single nucleotide variant | not provided [RCV002774979] | Chr8:142879097 [GRCh38] Chr8:143960513 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.895C>T (p.Leu299=) | single nucleotide variant | not provided [RCV003016695] | Chr8:142876300 [GRCh38] Chr8:143957716 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1362C>A (p.Arg454=) | single nucleotide variant | not provided [RCV002947979] | Chr8:142874993 [GRCh38] Chr8:143956409 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1191C>T (p.Ile397=) | single nucleotide variant | not provided [RCV002863863] | Chr8:142875243 [GRCh38] Chr8:143956659 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.852_853inv (p.Gln285Ter) | inversion | not provided [RCV002863756] | Chr8:142876342..142876343 [GRCh38] Chr8:143957758..143957759 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.1243G>A (p.Ala415Thr) | single nucleotide variant | not provided [RCV002975137] | Chr8:142875112 [GRCh38] Chr8:143956528 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1265G>A (p.Arg422His) | single nucleotide variant | not provided [RCV002882012] | Chr8:142875090 [GRCh38] Chr8:143956506 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.663G>C (p.Leu221=) | single nucleotide variant | not provided [RCV002797215] | Chr8:142876818 [GRCh38] Chr8:143958234 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.610C>G (p.Leu204Val) | single nucleotide variant | not provided [RCV003081724] | Chr8:142876871 [GRCh38] Chr8:143958287 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.395+12_395+13insGAGTTGG | insertion | not provided [RCV002572119] | Chr8:142879019..142879020 [GRCh38] Chr8:143960435..143960436 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.42C>T (p.Pro14=) | single nucleotide variant | not provided [RCV003021612] | Chr8:142879772 [GRCh38] Chr8:143961188 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.21A>G (p.Ala7=) | single nucleotide variant | not provided [RCV003003125] | Chr8:142879793 [GRCh38] Chr8:143961209 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.684G>A (p.Glu228=) | single nucleotide variant | not provided [RCV002800463] | Chr8:142876797 [GRCh38] Chr8:143958213 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.703G>A (p.Val235Ile) | single nucleotide variant | not provided [RCV002914174] | Chr8:142876778 [GRCh38] Chr8:143958194 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.596-5del | deletion | not provided [RCV002979005] | Chr8:142876890 [GRCh38] Chr8:143958306 [GRCh37] Chr8:8q24.3 |
benign |
NM_000497.4(CYP11B1):c.256G>C (p.Ala86Pro) | single nucleotide variant | Inborn genetic diseases [RCV002952085] | Chr8:142879171 [GRCh38] Chr8:143960587 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.396-16G>A | single nucleotide variant | not provided [RCV002867412] | Chr8:142877238 [GRCh38] Chr8:143958654 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.258A>C (p.Ala86=) | single nucleotide variant | not provided [RCV003036298] | Chr8:142879169 [GRCh38] Chr8:143960585 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1100C>T (p.Ala367Val) | single nucleotide variant | Inborn genetic diseases [RCV002912778]|not provided [RCV002912779] | Chr8:142875733 [GRCh38] Chr8:143957149 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.559G>A (p.Asp187Asn) | single nucleotide variant | Inborn genetic diseases [RCV002691825] | Chr8:142877059 [GRCh38] Chr8:143958475 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.777C>T (p.Ala259=) | single nucleotide variant | not provided [RCV003000149] | Chr8:142876704 [GRCh38] Chr8:143958120 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.825T>A (p.Tyr275Ter) | single nucleotide variant | not provided [RCV002846500] | Chr8:142876370 [GRCh38] Chr8:143957786 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.706C>T (p.Gln236Ter) | single nucleotide variant | not provided [RCV003038529] | Chr8:142876775 [GRCh38] Chr8:143958191 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.854A>G (p.Gln285Arg) | single nucleotide variant | not provided [RCV002952528] | Chr8:142876341 [GRCh38] Chr8:143957757 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1228_1229del (p.Leu410fs) | microsatellite | not provided [RCV002592077] | Chr8:142875126..142875127 [GRCh38] Chr8:143956542..143956543 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.385G>C (p.Val129Leu) | single nucleotide variant | Inborn genetic diseases [RCV002927427]|not provided [RCV002927426] | Chr8:142879042 [GRCh38] Chr8:143960458 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1398+7A>C | single nucleotide variant | not provided [RCV002846672] | Chr8:142874950 [GRCh38] Chr8:143956366 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.844C>T (p.Arg282Cys) | single nucleotide variant | not provided [RCV002978990] | Chr8:142876351 [GRCh38] Chr8:143957767 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.298C>T (p.Leu100=) | single nucleotide variant | not provided [RCV002847374] | Chr8:142879129 [GRCh38] Chr8:143960545 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.138C>A (p.Gly46=) | single nucleotide variant | not provided [RCV002866696] | Chr8:142879676 [GRCh38] Chr8:143961092 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.501C>T (p.Asp167=) | single nucleotide variant | not provided [RCV002570286] | Chr8:142877117 [GRCh38] Chr8:143958533 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1121+7G>C | single nucleotide variant | not provided [RCV002918799] | Chr8:142875705 [GRCh38] Chr8:143957121 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.995G>C (p.Arg332Pro) | single nucleotide variant | not provided [RCV002875592] | Chr8:142875838 [GRCh38] Chr8:143957254 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.4G>A (p.Ala2Thr) | single nucleotide variant | not provided [RCV002645652] | Chr8:142879810 [GRCh38] Chr8:143961226 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.396-1G>A | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV004572728]|not provided [RCV003058204] | Chr8:142877223 [GRCh38] Chr8:143958639 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
NM_000497.4(CYP11B1):c.588C>A (p.Thr196=) | single nucleotide variant | not provided [RCV003026238] | Chr8:142877030 [GRCh38] Chr8:143958446 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.647C>T (p.Pro216Leu) | single nucleotide variant | Inborn genetic diseases [RCV002790689]|not provided [RCV002790688] | Chr8:142876834 [GRCh38] Chr8:143958250 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.858C>T (p.Tyr286=) | single nucleotide variant | not provided [RCV002642964] | Chr8:142876337 [GRCh38] Chr8:143957753 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1240C>G (p.Pro414Ala) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV003333809]|Inborn genetic diseases [RCV003004834] | Chr8:142875115 [GRCh38] Chr8:143956531 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.822C>A (p.Ile274=) | single nucleotide variant | not provided [RCV002890224] | Chr8:142876373 [GRCh38] Chr8:143957789 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.425T>C (p.Leu142Ser) | single nucleotide variant | Inborn genetic diseases [RCV002917030] | Chr8:142877193 [GRCh38] Chr8:143958609 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1201-19C>T | single nucleotide variant | not provided [RCV002593480] | Chr8:142875173 [GRCh38] Chr8:143956589 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.675T>C (p.His225=) | single nucleotide variant | not provided [RCV002825662] | Chr8:142876806 [GRCh38] Chr8:143958222 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1041C>G (p.Ala347=) | single nucleotide variant | not provided [RCV002595517] | Chr8:142875792 [GRCh38] Chr8:143957208 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1261G>A (p.Glu421Lys) | single nucleotide variant | Inborn genetic diseases [RCV002803702] | Chr8:142875094 [GRCh38] Chr8:143956510 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1077C>T (p.Thr359=) | single nucleotide variant | not provided [RCV002917937] | Chr8:142875756 [GRCh38] Chr8:143957172 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.801C>A (p.Gly267=) | single nucleotide variant | not provided [RCV002875630] | Chr8:142876394 [GRCh38] Chr8:143957810 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1008G>A (p.Val336=) | single nucleotide variant | not provided [RCV002624956] | Chr8:142875825 [GRCh38] Chr8:143957241 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.270T>A (p.Cys90Ter) | single nucleotide variant | not provided [RCV003039682] | Chr8:142879157 [GRCh38] Chr8:143960573 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.240-16G>C | single nucleotide variant | not provided [RCV002914782] | Chr8:142879203 [GRCh38] Chr8:143960619 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.114T>C (p.Phe38=) | single nucleotide variant | not provided [RCV002871895] | Chr8:142879700 [GRCh38] Chr8:143961116 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.392del (p.Leu131fs) | deletion | not provided [RCV002596465] | Chr8:142879035 [GRCh38] Chr8:143960451 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.1200+8A>T | single nucleotide variant | not provided [RCV002871742] | Chr8:142875226 [GRCh38] Chr8:143956642 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1201-8G>A | single nucleotide variant | not provided [RCV003084430] | Chr8:142875162 [GRCh38] Chr8:143956578 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1293C>T (p.Ile431=) | single nucleotide variant | not provided [RCV002852188] | Chr8:142875062 [GRCh38] Chr8:143956478 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.318G>A (p.Leu106=) | single nucleotide variant | not provided [RCV003007439] | Chr8:142879109 [GRCh38] Chr8:143960525 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1303G>A (p.Gly435Ser) | single nucleotide variant | not provided [RCV002574213] | Chr8:142875052 [GRCh38] Chr8:143956468 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1438G>A (p.Asp480Asn) | single nucleotide variant | not provided [RCV002953866] | Chr8:142874447 [GRCh38] Chr8:143955863 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1123C>G (p.Leu375Val) | single nucleotide variant | not provided [RCV002829681] | Chr8:142875311 [GRCh38] Chr8:143956727 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1314C>T (p.Phe438=) | single nucleotide variant | not provided [RCV002890010] | Chr8:142875041 [GRCh38] Chr8:143956457 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.874G>T (p.Glu292Ter) | single nucleotide variant | not provided [RCV003030990] | Chr8:142876321 [GRCh38] Chr8:143957737 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.396-3T>C | single nucleotide variant | not provided [RCV002650946] | Chr8:142877225 [GRCh38] Chr8:143958641 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.106C>T (p.Leu36=) | single nucleotide variant | not provided [RCV002650541] | Chr8:142879708 [GRCh38] Chr8:143961124 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.994C>T (p.Arg332Trp) | single nucleotide variant | not provided [RCV002628917] | Chr8:142875839 [GRCh38] Chr8:143957255 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.799+10G>A | single nucleotide variant | not provided [RCV003010281] | Chr8:142876672 [GRCh38] Chr8:143958088 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.445C>T (p.Leu149=) | single nucleotide variant | not provided [RCV002598638] | Chr8:142877173 [GRCh38] Chr8:143958589 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.199G>A (p.Glu67Lys) | single nucleotide variant | Inborn genetic diseases [RCV002792799] | Chr8:142879615 [GRCh38] Chr8:143961031 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1150C>G (p.Arg384Gly) | single nucleotide variant | not provided [RCV003062182] | Chr8:142875284 [GRCh38] Chr8:143956700 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.858C>A (p.Tyr286Ter) | single nucleotide variant | not provided [RCV002792084] | Chr8:142876337 [GRCh38] Chr8:143957753 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.125C>G (p.Pro42Arg) | single nucleotide variant | not provided [RCV003046345] | Chr8:142879689 [GRCh38] Chr8:143961105 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.1057G>T (p.Glu353Ter) | single nucleotide variant | not provided [RCV002857282] | Chr8:142875776 [GRCh38] Chr8:143957192 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.1110G>A (p.Lys370=) | single nucleotide variant | not provided [RCV002856427] | Chr8:142875723 [GRCh38] Chr8:143957139 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1215_1216del (p.Phe406fs) | microsatellite | not provided [RCV002832922] | Chr8:142875139..142875140 [GRCh38] Chr8:143956555..143956556 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.821del (p.Ile274fs) | deletion | not provided [RCV002857759] | Chr8:142876374 [GRCh38] Chr8:143957790 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.479TGG[1] (p.Val161del) | microsatellite | not provided [RCV003062183] | Chr8:142877134..142877136 [GRCh38] Chr8:143958550..143958552 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.207C>G (p.His69Gln) | single nucleotide variant | CYP11B1-related disorder [RCV004750858]|Inborn genetic diseases [RCV002674790] | Chr8:142879607 [GRCh38] Chr8:143961023 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.801C>G (p.Gly267=) | single nucleotide variant | not provided [RCV002578873] | Chr8:142876394 [GRCh38] Chr8:143957810 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1234C>T (p.Arg412Cys) | single nucleotide variant | Inborn genetic diseases [RCV002919791] | Chr8:142875121 [GRCh38] Chr8:143956537 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.428G>T (p.Arg143Leu) | single nucleotide variant | not provided [RCV002671371]|not specified [RCV004690313] | Chr8:142877190 [GRCh38] Chr8:143958606 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1398+7_1398+13del | deletion | not provided [RCV003009983] | Chr8:142874944..142874950 [GRCh38] Chr8:143956360..143956366 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.249G>A (p.Leu83=) | single nucleotide variant | not provided [RCV003010323] | Chr8:142879178 [GRCh38] Chr8:143960594 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1150C>A (p.Arg384=) | single nucleotide variant | not provided [RCV002634783] | Chr8:142875284 [GRCh38] Chr8:143956700 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.111C>T (p.Pro37=) | single nucleotide variant | not provided [RCV002654799] | Chr8:142879703 [GRCh38] Chr8:143961119 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1122-10C>T | single nucleotide variant | not provided [RCV003051948] | Chr8:142875322 [GRCh38] Chr8:143956738 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1121G>C (p.Arg374Pro) | single nucleotide variant | not provided [RCV002635044] | Chr8:142875712 [GRCh38] Chr8:143957128 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.744C>A (p.Thr248=) | single nucleotide variant | not provided [RCV002611187] | Chr8:142876737 [GRCh38] Chr8:143958153 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1196C>G (p.Ala399Gly) | single nucleotide variant | not provided [RCV002589030] | Chr8:142875238 [GRCh38] Chr8:143956654 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.916G>A (p.Ala306Thr) | single nucleotide variant | not provided [RCV002633988] | Chr8:142876279 [GRCh38] Chr8:143957695 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.1236C>A (p.Arg412=) | single nucleotide variant | not provided [RCV002942266] | Chr8:142875119 [GRCh38] Chr8:143956535 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1398+7A>T | single nucleotide variant | not provided [RCV002607010] | Chr8:142874950 [GRCh38] Chr8:143956366 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.396-2A>G | single nucleotide variant | Congenital adrenal hyperplasia [RCV003155793] | Chr8:142877224 [GRCh38] Chr8:143958640 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.1471C>T (p.Pro491Ser) | single nucleotide variant | not provided [RCV003145972] | Chr8:142874414 [GRCh38] Chr8:143955830 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1148A>G (p.Glu383Gly) | single nucleotide variant | not provided [RCV003145971] | Chr8:142875286 [GRCh38] Chr8:143956702 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.930A>T (p.Glu310Asp) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV003459903] | uncertain significance | |
NM_000497.4(CYP11B1):c.1019T>G (p.Leu340Arg) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV003459904] | likely pathogenic | |
NM_000497.4(CYP11B1):c.1361G>C (p.Arg454Pro) | single nucleotide variant | not specified [RCV003324385] | Chr8:142874994 [GRCh38] Chr8:143956410 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.842G>A (p.Ser281Asn) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV003333836] | Chr8:142876353 [GRCh38] Chr8:143957769 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.748C>A (p.Pro250Thr) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV003333866] | Chr8:142876733 [GRCh38] Chr8:143958149 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NC_000008.10:g.(143957812_143958097)_(143961237_?)dup | duplication | not specified [RCV003331888] | Chr8:143958097..143961237 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1399-1G>C | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV003468619] | Chr8:142874487 [GRCh38] Chr8:143955903 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.1080del (p.Glu361fs) | deletion | Deficiency of steroid 11-beta-monooxygenase [RCV003468623] | Chr8:142875753 [GRCh38] Chr8:143957169 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.1064C>T (p.Pro355Leu) | single nucleotide variant | Inborn genetic diseases [RCV003366023] | Chr8:142875769 [GRCh38] Chr8:143957185 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.799G>C (p.Gly267Arg) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV003459901] | Chr8:142876682 [GRCh38] Chr8:143958098 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.1124T>C (p.Leu375Pro) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV003459905] | uncertain significance | |
NM_000497.4(CYP11B1):c.800-2A>G | single nucleotide variant | not provided [RCV003569684] | Chr8:142876397 [GRCh38] Chr8:143957813 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.1379TGC[6] (p.Leu464_His465insLeu) | microsatellite | Deficiency of steroid 11-beta-monooxygenase [RCV003468620] | Chr8:142874961..142874962 [GRCh38] Chr8:143956377..143956378 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.360del (p.Arg120fs) | deletion | Deficiency of steroid 11-beta-monooxygenase [RCV003468626] | Chr8:142879067 [GRCh38] Chr8:143960483 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.1201-9C>A | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV003468617] | Chr8:142875163 [GRCh38] Chr8:143956579 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.954+1del | deletion | Deficiency of steroid 11-beta-monooxygenase [RCV003468625] | Chr8:142876240 [GRCh38] Chr8:143957656 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.395+7G>C | single nucleotide variant | not provided [RCV003570547] | Chr8:142879025 [GRCh38] Chr8:143960441 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.799+20C>A | single nucleotide variant | not provided [RCV003570581] | Chr8:142876662 [GRCh38] Chr8:143958078 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1399-23T>G | single nucleotide variant | not provided [RCV003440710] | Chr8:142874509 [GRCh38] Chr8:143955925 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1039G>A (p.Ala347Thr) | single nucleotide variant | not provided [RCV003440711] | Chr8:142875794 [GRCh38] Chr8:143957210 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.239+167C>G | single nucleotide variant | not provided [RCV003440712] | Chr8:142879408 [GRCh38] Chr8:143960824 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.596-13A>G | single nucleotide variant | not provided [RCV003569025] | Chr8:142876898 [GRCh38] Chr8:143958314 [GRCh37] Chr8:8q24.3 |
likely benign |
GRCh37/hg19 8q24.3(chr8:143689344-144448860)x3 | copy number gain | not provided [RCV003484754] | Chr8:143689344..144448860 [GRCh37] Chr8:8q24.3 |
uncertain significance |
GRCh37/hg19 8q24.3(chr8:143757257-143957270)x3 | copy number gain | not provided [RCV003484756] | Chr8:143757257..143957270 [GRCh37] Chr8:8q24.3 |
uncertain significance |
GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3 | copy number gain | not provided [RCV003484752] | Chr8:141419599..146295771 [GRCh37] Chr8:8q24.3 |
pathogenic |
GRCh37/hg19 8q24.3(chr8:143911521-144160011)x1 | copy number loss | not provided [RCV003483042] | Chr8:143911521..144160011 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1122-2A>G | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV003468616] | Chr8:142875314 [GRCh38] Chr8:143956730 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.359_363dup (p.His122fs) | duplication | Deficiency of steroid 11-beta-monooxygenase [RCV003459895] | pathogenic | |
NM_000497.4(CYP11B1):c.422G>T (p.Arg141Leu) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV003459898] | likely pathogenic | |
NM_000497.4(CYP11B1):c.800G>A (p.Gly267Asp) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV003459902] | likely pathogenic | |
NM_000497.4(CYP11B1):c.798C>G (p.Tyr266Ter) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV003388670]|not provided [RCV003561333] | Chr8:142876683 [GRCh38] Chr8:143958099 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
NM_000497.4(CYP11B1):c.760_776delinsGG (p.Lys254_Ala259delinsGly) | indel | Deficiency of steroid 11-beta-monooxygenase [RCV003459899] | pathogenic | |
NM_000497.4(CYP11B1):c.1200+1G>T | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV003468624] | Chr8:142875233 [GRCh38] Chr8:143956649 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.381_382dup (p.Gly128fs) | microsatellite | Deficiency of steroid 11-beta-monooxygenase [RCV003459896] | pathogenic | |
NM_000497.4(CYP11B1):c.623G>C (p.Arg208Pro) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV003388240] | Chr8:142876858 [GRCh38] Chr8:143958274 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.715_731del (p.Phe239fs) | deletion | Deficiency of steroid 11-beta-monooxygenase [RCV003468618] | Chr8:142876750..142876766 [GRCh38] Chr8:143958166..143958182 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.1150_1153del (p.Arg384fs) | deletion | Deficiency of steroid 11-beta-monooxygenase [RCV003468622] | Chr8:142875281..142875284 [GRCh38] Chr8:143956697..143956700 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.399T>A (p.Asn133Lys) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV003459897]|Inborn genetic diseases [RCV004364765] | uncertain significance | |
NM_000497.4(CYP11B1):c.1466T>C (p.Leu489Ser) | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV003459906]|not provided [RCV003778514] | pathogenic|likely pathogenic | |
NM_000497.4(CYP11B1):c.984T>C (p.Phe328=) | single nucleotide variant | not provided [RCV003688289] | Chr8:142875849 [GRCh38] Chr8:143957265 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.954+14C>T | single nucleotide variant | not provided [RCV003739332] | Chr8:142876227 [GRCh38] Chr8:143957643 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1398+12C>G | single nucleotide variant | not provided [RCV003828553] | Chr8:142874945 [GRCh38] Chr8:143956361 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.800-13G>A | single nucleotide variant | not provided [RCV003690321] | Chr8:142876408 [GRCh38] Chr8:143957824 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.800-7C>G | single nucleotide variant | not provided [RCV003696786] | Chr8:142876402 [GRCh38] Chr8:143957818 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1330G>T (p.Gly444Cys) | single nucleotide variant | not provided [RCV003663543] | Chr8:142875025 [GRCh38] Chr8:143956441 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.9C>G (p.Leu3=) | single nucleotide variant | not provided [RCV003695206] | Chr8:142879805 [GRCh38] Chr8:143961221 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1398+6C>G | single nucleotide variant | not specified [RCV003490854] | Chr8:142874951 [GRCh38] Chr8:143956367 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.800-16C>G | single nucleotide variant | not provided [RCV003572266] | Chr8:142876411 [GRCh38] Chr8:143957827 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1224C>T (p.Tyr408=) | single nucleotide variant | not provided [RCV003660501] | Chr8:142875131 [GRCh38] Chr8:143956547 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.531G>A (p.Leu177=) | single nucleotide variant | not provided [RCV003713136] | Chr8:142877087 [GRCh38] Chr8:143958503 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1248G>A (p.Leu416=) | single nucleotide variant | not provided [RCV003686899] | Chr8:142875107 [GRCh38] Chr8:143956523 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.615T>C (p.Phe205=) | single nucleotide variant | not provided [RCV003693275] | Chr8:142876866 [GRCh38] Chr8:143958282 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.596-20G>C | single nucleotide variant | not provided [RCV003572470] | Chr8:142876905 [GRCh38] Chr8:143958321 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.396-10G>T | single nucleotide variant | not provided [RCV003547323] | Chr8:142877232 [GRCh38] Chr8:143958648 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.654T>C (p.Ser218=) | single nucleotide variant | not provided [RCV003662275] | Chr8:142876827 [GRCh38] Chr8:143958243 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.633G>A (p.Leu211=) | single nucleotide variant | not provided [RCV003545336] | Chr8:142876848 [GRCh38] Chr8:143958264 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.430C>T (p.Leu144=) | single nucleotide variant | not provided [RCV003738768] | Chr8:142877188 [GRCh38] Chr8:143958604 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.799+9A>G | single nucleotide variant | not provided [RCV003876041] | Chr8:142876673 [GRCh38] Chr8:143958089 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.896T>A (p.Leu299Gln) | single nucleotide variant | not provided [RCV003876724] | Chr8:142876299 [GRCh38] Chr8:143957715 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.1509C>T (p.Asn503=) | single nucleotide variant | not provided [RCV003714246] | Chr8:142874376 [GRCh38] Chr8:143955792 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1350C>A (p.Cys450Ter) | single nucleotide variant | not provided [RCV003690559] | Chr8:142875005 [GRCh38] Chr8:143956421 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.954+14C>A | single nucleotide variant | not provided [RCV003661563] | Chr8:142876227 [GRCh38] Chr8:143957643 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.799+16C>G | single nucleotide variant | not provided [RCV003575899] | Chr8:142876666 [GRCh38] Chr8:143958082 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1122-13C>T | single nucleotide variant | not provided [RCV003690763] | Chr8:142875325 [GRCh38] Chr8:143956741 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.609T>C (p.Ala203=) | single nucleotide variant | not provided [RCV003879444] | Chr8:142876872 [GRCh38] Chr8:143958288 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1121+20T>C | single nucleotide variant | not provided [RCV003716144] | Chr8:142875692 [GRCh38] Chr8:143957108 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.240-17C>T | single nucleotide variant | not provided [RCV003880696] | Chr8:142879204 [GRCh38] Chr8:143960620 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.240-20C>T | single nucleotide variant | not provided [RCV003830624] | Chr8:142879207 [GRCh38] Chr8:143960623 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.955-11G>C | single nucleotide variant | not provided [RCV003578733] | Chr8:142875889 [GRCh38] Chr8:143957305 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.954+20C>T | single nucleotide variant | not provided [RCV003881214] | Chr8:142876221 [GRCh38] Chr8:143957637 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.258A>G (p.Ala86=) | single nucleotide variant | not provided [RCV003714340] | Chr8:142879169 [GRCh38] Chr8:143960585 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.955-14T>C | single nucleotide variant | not provided [RCV003880980] | Chr8:142875892 [GRCh38] Chr8:143957308 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.558G>A (p.Leu186=) | single nucleotide variant | not provided [RCV003687069] | Chr8:142877060 [GRCh38] Chr8:143958476 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.960G>A (p.Val320=) | single nucleotide variant | not provided [RCV003687026] | Chr8:142875873 [GRCh38] Chr8:143957289 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.240-18T>C | single nucleotide variant | not provided [RCV003688417] | Chr8:142879205 [GRCh38] Chr8:143960621 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.800-12C>T | single nucleotide variant | not provided [RCV003880258] | Chr8:142876407 [GRCh38] Chr8:143957823 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.105G>T (p.Val35=) | single nucleotide variant | not provided [RCV003572402] | Chr8:142879709 [GRCh38] Chr8:143961125 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1200+17C>T | single nucleotide variant | not provided [RCV003663059] | Chr8:142875217 [GRCh38] Chr8:143956633 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.699C>T (p.Ser233=) | single nucleotide variant | not provided [RCV003691862] | Chr8:142876782 [GRCh38] Chr8:143958198 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.395+18A>C | single nucleotide variant | not provided [RCV003878931] | Chr8:142879014 [GRCh38] Chr8:143960430 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1399-16C>G | single nucleotide variant | not provided [RCV003576335] | Chr8:142874502 [GRCh38] Chr8:143955918 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.192G>A (p.Leu64=) | single nucleotide variant | not provided [RCV003572385] | Chr8:142879622 [GRCh38] Chr8:143961038 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1257G>A (p.Arg419=) | single nucleotide variant | not provided [RCV003548611] | Chr8:142875098 [GRCh38] Chr8:143956514 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1356G>A (p.Gly452=) | single nucleotide variant | not provided [RCV003850484] | Chr8:142874999 [GRCh38] Chr8:143956415 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1356_1359del (p.Arg453fs) | deletion | not provided [RCV003579596] | Chr8:142874996..142874999 [GRCh38] Chr8:143956412..143956415 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.1121+16G>A | single nucleotide variant | not provided [RCV003549526] | Chr8:142875696 [GRCh38] Chr8:143957112 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.633G>T (p.Leu211=) | single nucleotide variant | not provided [RCV003580349] | Chr8:142876848 [GRCh38] Chr8:143958264 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.595+19G>T | single nucleotide variant | not provided [RCV003581059] | Chr8:142877004 [GRCh38] Chr8:143958420 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.879_890delinsGTCGCCAGAT (p.Leu294fs) | indel | not provided [RCV003726920] | Chr8:142876305..142876316 [GRCh38] Chr8:143957721..143957732 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.1201-11A>C | single nucleotide variant | not provided [RCV003579633] | Chr8:142875165 [GRCh38] Chr8:143956581 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.27G>A (p.Val9=) | single nucleotide variant | not provided [RCV003663993] | Chr8:142879787 [GRCh38] Chr8:143961203 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1158G>C (p.Ala386=) | single nucleotide variant | not provided [RCV003670457] | Chr8:142875276 [GRCh38] Chr8:143956692 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.316C>T (p.Leu106=) | single nucleotide variant | not provided [RCV003671266] | Chr8:142879111 [GRCh38] Chr8:143960527 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.326A>T (p.His109Leu) | single nucleotide variant | not provided [RCV003562139] | Chr8:142879101 [GRCh38] Chr8:143960517 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.595+20A>G | single nucleotide variant | not provided [RCV003816223] | Chr8:142877003 [GRCh38] Chr8:143958419 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.240-13C>T | single nucleotide variant | not provided [RCV003665830] | Chr8:142879200 [GRCh38] Chr8:143960616 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1170G>A (p.Leu390=) | single nucleotide variant | not provided [RCV003856614] | Chr8:142875264 [GRCh38] Chr8:143956680 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.240-16G>A | single nucleotide variant | not provided [RCV003703304] | Chr8:142879203 [GRCh38] Chr8:143960619 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1122-19T>C | single nucleotide variant | not provided [RCV003579943] | Chr8:142875331 [GRCh38] Chr8:143956747 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.705C>G (p.Val235=) | single nucleotide variant | not provided [RCV003579975] | Chr8:142876776 [GRCh38] Chr8:143958192 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1399-15C>T | single nucleotide variant | not provided [RCV003580014] | Chr8:142874501 [GRCh38] Chr8:143955917 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.800-1G>C | single nucleotide variant | not provided [RCV003561537] | Chr8:142876396 [GRCh38] Chr8:143957812 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.800-10C>T | single nucleotide variant | not provided [RCV003664545] | Chr8:142876405 [GRCh38] Chr8:143957821 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1398+17T>A | single nucleotide variant | not provided [RCV003849624] | Chr8:142874940 [GRCh38] Chr8:143956356 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1206G>A (p.Leu402=) | single nucleotide variant | not provided [RCV003836262] | Chr8:142875149 [GRCh38] Chr8:143956565 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1398+18G>C | single nucleotide variant | not provided [RCV003725326] | Chr8:142874939 [GRCh38] Chr8:143956355 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.239+17_239+26del | deletion | not provided [RCV003667890] | Chr8:142879549..142879558 [GRCh38] Chr8:143960965..143960974 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1044A>G (p.Ala348=) | single nucleotide variant | not provided [RCV003723299] | Chr8:142875789 [GRCh38] Chr8:143957205 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.165C>A (p.Ile55=) | single nucleotide variant | not provided [RCV003669533] | Chr8:142879649 [GRCh38] Chr8:143961065 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1201-10C>T | single nucleotide variant | not provided [RCV003673542] | Chr8:142875164 [GRCh38] Chr8:143956580 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1398+12C>A | single nucleotide variant | not provided [RCV003839590] | Chr8:142874945 [GRCh38] Chr8:143956361 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.768C>T (p.His256=) | single nucleotide variant | not provided [RCV003669972] | Chr8:142876713 [GRCh38] Chr8:143958129 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.396-13C>T | single nucleotide variant | not provided [RCV003559716] | Chr8:142877235 [GRCh38] Chr8:143958651 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1200+17C>A | single nucleotide variant | not provided [RCV003833836] | Chr8:142875217 [GRCh38] Chr8:143956633 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.800-17T>C | single nucleotide variant | not provided [RCV003659186] | Chr8:142876412 [GRCh38] Chr8:143957828 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1149G>A (p.Glu383=) | single nucleotide variant | not provided [RCV003701840] | Chr8:142875285 [GRCh38] Chr8:143956701 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.596-16T>C | single nucleotide variant | not provided [RCV003548414] | Chr8:142876901 [GRCh38] Chr8:143958317 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1074A>G (p.Ala358=) | single nucleotide variant | not provided [RCV003697420] | Chr8:142875759 [GRCh38] Chr8:143957175 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1398+12dup | duplication | not provided [RCV003854433] | Chr8:142874944..142874945 [GRCh38] Chr8:143956360..143956361 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.801C>T (p.Gly267=) | single nucleotide variant | not provided [RCV003659183] | Chr8:142876394 [GRCh38] Chr8:143957810 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.595+15G>C | single nucleotide variant | not provided [RCV003833800] | Chr8:142877008 [GRCh38] Chr8:143958424 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.954+18C>T | single nucleotide variant | not provided [RCV003668612] | Chr8:142876223 [GRCh38] Chr8:143957639 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.800-19C>T | single nucleotide variant | not provided [RCV003724292] | Chr8:142876414 [GRCh38] Chr8:143957830 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.595+13T>C | single nucleotide variant | not provided [RCV003816224] | Chr8:142877010 [GRCh38] Chr8:143958426 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.595+11C>T | single nucleotide variant | not provided [RCV003816225] | Chr8:142877012 [GRCh38] Chr8:143958428 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1368A>G (p.Ala456=) | single nucleotide variant | not provided [RCV003697425] | Chr8:142874987 [GRCh38] Chr8:143956403 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.596-7C>T | single nucleotide variant | not provided [RCV003554267] | Chr8:142876892 [GRCh38] Chr8:143958308 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1268A>G (p.Tyr423Cys) | single nucleotide variant | not provided [RCV003709341] | Chr8:142875087 [GRCh38] Chr8:143956503 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.46C>T (p.Leu16=) | single nucleotide variant | not provided [RCV003553285] | Chr8:142879768 [GRCh38] Chr8:143961184 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1294del (p.Arg432fs) | deletion | not provided [RCV003567391] | Chr8:142875061 [GRCh38] Chr8:143956477 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.1491C>G (p.Leu497=) | single nucleotide variant | not provided [RCV003567549] | Chr8:142874394 [GRCh38] Chr8:143955810 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.573C>T (p.Ser191=) | single nucleotide variant | not provided [RCV003555247] | Chr8:142877045 [GRCh38] Chr8:143958461 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.799+11G>A | single nucleotide variant | not provided [RCV003675835] | Chr8:142876671 [GRCh38] Chr8:143958087 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.737G>C (p.Arg246Pro) | single nucleotide variant | not provided [RCV003732428] | Chr8:142876744 [GRCh38] Chr8:143958160 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1201-9C>G | single nucleotide variant | not provided [RCV003707129] | Chr8:142875163 [GRCh38] Chr8:143956579 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.955-18C>A | single nucleotide variant | not provided [RCV003551082] | Chr8:142875896 [GRCh38] Chr8:143957312 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.301C>T (p.Gln101Ter) | single nucleotide variant | not provided [RCV003563733] | Chr8:142879126 [GRCh38] Chr8:143960542 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.1399-12C>A | single nucleotide variant | not provided [RCV003556588] | Chr8:142874498 [GRCh38] Chr8:143955914 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1398+8G>C | single nucleotide variant | not provided [RCV003562257] | Chr8:142874949 [GRCh38] Chr8:143956365 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1201-19C>G | single nucleotide variant | not provided [RCV003551479] | Chr8:142875173 [GRCh38] Chr8:143956589 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.519G>A (p.Lys173=) | single nucleotide variant | not provided [RCV003566849] | Chr8:142877099 [GRCh38] Chr8:143958515 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.595+19dup | duplication | not provided [RCV003709664] | Chr8:142877003..142877004 [GRCh38] Chr8:143958419..143958420 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.405T>C (p.Pro135=) | single nucleotide variant | not provided [RCV003823226] | Chr8:142877213 [GRCh38] Chr8:143958629 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.612T>C (p.Leu204=) | single nucleotide variant | not provided [RCV003705104] | Chr8:142876869 [GRCh38] Chr8:143958285 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.240-19C>T | single nucleotide variant | not provided [RCV003730944] | Chr8:142879206 [GRCh38] Chr8:143960622 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1344C>T (p.Arg448=) | single nucleotide variant | not provided [RCV003553645] | Chr8:142875011 [GRCh38] Chr8:143956427 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.679C>T (p.Leu227=) | single nucleotide variant | not provided [RCV003542640] | Chr8:142876802 [GRCh38] Chr8:143958218 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.648C>G (p.Pro216=) | single nucleotide variant | not provided [RCV003869602] | Chr8:142876833 [GRCh38] Chr8:143958249 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.799+16C>T | single nucleotide variant | not provided [RCV003737735] | Chr8:142876666 [GRCh38] Chr8:143958082 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1121+11G>A | single nucleotide variant | not provided [RCV003721127] | Chr8:142875701 [GRCh38] Chr8:143957117 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1236C>T (p.Arg412=) | single nucleotide variant | not provided [RCV003871324] | Chr8:142875119 [GRCh38] Chr8:143956535 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1322T>G (p.Val441Gly) | single nucleotide variant | not provided [RCV003557427] | Chr8:142875033 [GRCh38] Chr8:143956449 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.1150C>T (p.Arg384Ter) | single nucleotide variant | Glucocorticoid-remediable aldosteronism [RCV003984889]|not provided [RCV003557428] | Chr8:142875284 [GRCh38] Chr8:143956700 [GRCh37] Chr8:8q24.3 |
pathogenic|likely pathogenic |
NM_000497.4(CYP11B1):c.483G>A (p.Val161=) | single nucleotide variant | not provided [RCV003565274] | Chr8:142877135 [GRCh38] Chr8:143958551 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.427C>A (p.Arg143=) | single nucleotide variant | not provided [RCV003737550] | Chr8:142877191 [GRCh38] Chr8:143958607 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1209G>T (p.Val403=) | single nucleotide variant | not provided [RCV003737552] | Chr8:142875146 [GRCh38] Chr8:143956562 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.596-11C>T | single nucleotide variant | not provided [RCV003704622] | Chr8:142876896 [GRCh38] Chr8:143958312 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.954+12A>C | single nucleotide variant | not provided [RCV003823874] | Chr8:142876229 [GRCh38] Chr8:143957645 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1201-18G>A | single nucleotide variant | not provided [RCV003556992] | Chr8:142875172 [GRCh38] Chr8:143956588 [GRCh37] Chr8:8q24.3 |
likely benign |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 | copy number gain | not specified [RCV003986742] | Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.105G>A (p.Val35=) | single nucleotide variant | not provided [RCV003685809] | Chr8:142879709 [GRCh38] Chr8:143961125 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.978G>A (p.Thr326=) | single nucleotide variant | not provided [RCV003867064] | Chr8:142875855 [GRCh38] Chr8:143957271 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1354G>C (p.Gly452Arg) | single nucleotide variant | not provided [RCV003678290] | Chr8:142875001 [GRCh38] Chr8:143956417 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1122-11C>T | single nucleotide variant | not provided [RCV003871136] | Chr8:142875323 [GRCh38] Chr8:143956739 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.607G>A (p.Ala203Thr) | single nucleotide variant | not provided [RCV003737986] | Chr8:142876874 [GRCh38] Chr8:143958290 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.240-14G>T | single nucleotide variant | not provided [RCV003555818] | Chr8:142879201 [GRCh38] Chr8:143960617 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.687C>G (p.Val229=) | single nucleotide variant | not provided [RCV003721554] | Chr8:142876794 [GRCh38] Chr8:143958210 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.345C>A (p.Pro115=) | single nucleotide variant | not provided [RCV003718681] | Chr8:142879082 [GRCh38] Chr8:143960498 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.412C>G (p.Arg138Gly) | single nucleotide variant | not provided [RCV003563091] | Chr8:142877206 [GRCh38] Chr8:143958622 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.1399-5C>T | single nucleotide variant | not provided [RCV003568767] | Chr8:142874491 [GRCh38] Chr8:143955907 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.239+12C>A | single nucleotide variant | not provided [RCV003556959] | Chr8:142879563 [GRCh38] Chr8:143960979 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1200+15C>T | single nucleotide variant | not provided [RCV003865069] | Chr8:142875219 [GRCh38] Chr8:143956635 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1282T>G (p.Trp428Gly) | single nucleotide variant | not provided [RCV003865311] | Chr8:142875073 [GRCh38] Chr8:143956489 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.239+14T>C | single nucleotide variant | not provided [RCV003729278] | Chr8:142879561 [GRCh38] Chr8:143960977 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.522G>A (p.Lys174=) | single nucleotide variant | not provided [RCV003859244] | Chr8:142877096 [GRCh38] Chr8:143958512 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.799+18G>C | single nucleotide variant | not provided [RCV003562346] | Chr8:142876664 [GRCh38] Chr8:143958080 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1212C>T (p.Arg404=) | single nucleotide variant | not provided [RCV003705141] | Chr8:142875143 [GRCh38] Chr8:143956559 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.426G>A (p.Leu142=) | single nucleotide variant | not provided [RCV003709337] | Chr8:142877192 [GRCh38] Chr8:143958608 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.438A>G (p.Pro146=) | single nucleotide variant | not provided [RCV003675857] | Chr8:142877180 [GRCh38] Chr8:143958596 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.765G>A (p.Glu255=) | single nucleotide variant | not provided [RCV003860960] | Chr8:142876716 [GRCh38] Chr8:143958132 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1416G>A (p.Gln472=) | single nucleotide variant | not provided [RCV003678380] | Chr8:142874469 [GRCh38] Chr8:143955885 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.240-13C>G | single nucleotide variant | not provided [RCV003732884] | Chr8:142879200 [GRCh38] Chr8:143960616 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1201-5C>T | single nucleotide variant | not provided [RCV003567998] | Chr8:142875159 [GRCh38] Chr8:143956575 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.799+20C>T | single nucleotide variant | not provided [RCV003706641] | Chr8:142876662 [GRCh38] Chr8:143958078 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1201-15C>A | single nucleotide variant | not provided [RCV003729978] | Chr8:142875169 [GRCh38] Chr8:143956585 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1359G>A (p.Arg453=) | single nucleotide variant | not provided [RCV003706815] | Chr8:142874996 [GRCh38] Chr8:143956412 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1377_1378del (p.Glu459fs) | microsatellite | not provided [RCV003552077] | Chr8:142874977..142874978 [GRCh38] Chr8:143956393..143956394 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.1503C>T (p.Ala501=) | single nucleotide variant | not provided [RCV003677697] | Chr8:142874382 [GRCh38] Chr8:143955798 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1024C>T (p.Gln342Ter) | single nucleotide variant | not provided [RCV003565487] | Chr8:142875809 [GRCh38] Chr8:143957225 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.1201-17C>G | single nucleotide variant | not provided [RCV003861688] | Chr8:142875171 [GRCh38] Chr8:143956587 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1291A>T (p.Ile431Phe) | single nucleotide variant | Inborn genetic diseases [RCV004367751] | Chr8:142875064 [GRCh38] Chr8:143956480 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.266T>C (p.Val89Ala) | single nucleotide variant | Inborn genetic diseases [RCV004367753] | Chr8:142879161 [GRCh38] Chr8:143960577 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1123C>A (p.Leu375Ile) | single nucleotide variant | Inborn genetic diseases [RCV004367750] | Chr8:142875311 [GRCh38] Chr8:143956727 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.650G>A (p.Ser217Asn) | single nucleotide variant | Inborn genetic diseases [RCV004367754] | Chr8:142876831 [GRCh38] Chr8:143958247 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1081G>A (p.Glu361Lys) | single nucleotide variant | Inborn genetic diseases [RCV004367749] | Chr8:142875752 [GRCh38] Chr8:143957168 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.868G>A (p.Val290Met) | single nucleotide variant | Inborn genetic diseases [RCV004367755] | Chr8:142876327 [GRCh38] Chr8:143957743 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.-10G>A | single nucleotide variant | CYP11B1-related disorder [RCV003967182] | Chr8:142879823 [GRCh38] Chr8:143961239 [GRCh37] Chr8:8q24.3 |
likely benign |
NM_000497.4(CYP11B1):c.1231G>A (p.Gly411Ser) | single nucleotide variant | not specified [RCV004527025] | Chr8:142875124 [GRCh38] Chr8:143956540 [GRCh37] Chr8:8q24.3 |
uncertain significance |
GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3 | copy number gain | not provided [RCV003885521] | Chr8:113392581..146364022 [GRCh37] Chr8:8q23.3-24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.593_594delinsGT (p.Glu198Gly) | indel | not specified [RCV004527102] | Chr8:142877024..142877025 [GRCh38] Chr8:143958440..143958441 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.955-2A>G | single nucleotide variant | Deficiency of steroid 11-beta-monooxygenase [RCV004575746] | Chr8:142875880 [GRCh38] Chr8:143957296 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.1136del (p.Gly379fs) | deletion | Deficiency of steroid 11-beta-monooxygenase [RCV004575747] | Chr8:142875298 [GRCh38] Chr8:143956714 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.228del (p.Ile78fs) | deletion | Deficiency of steroid 11-beta-monooxygenase [RCV004575748] | Chr8:142879586 [GRCh38] Chr8:143961002 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NC_000008.10:g.(?_143955789)_(143961229_?)del | deletion | not provided [RCV004583314] | Chr8:143955789..143961229 [GRCh37] Chr8:8q24.3 |
pathogenic |
NM_000497.4(CYP11B1):c.1111G>A (p.Glu371Lys) | single nucleotide variant | Congenital adrenal hyperplasia [RCV004586335] | Chr8:142875722 [GRCh38] Chr8:143957138 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NC_000008.10:g.(?_143958078)_(143995854_?)dup | duplication | not provided [RCV004583315] | Chr8:143958078..143995854 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.367C>G (p.Arg123Gly) | single nucleotide variant | CYP11B1-related disorder [RCV004752266] | Chr8:142879060 [GRCh38] Chr8:143960476 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.950A>T (p.Asp317Val) | single nucleotide variant | Congenital adrenal hyperplasia [RCV004766488] | Chr8:142876245 [GRCh38] Chr8:143957661 [GRCh37] Chr8:8q24.3 |
likely pathogenic |
NM_000497.4(CYP11B1):c.783C>G (p.Asp261Glu) | single nucleotide variant | CYP11B1-related disorder [RCV004752190] | Chr8:142876698 [GRCh38] Chr8:143958114 [GRCh37] Chr8:8q24.3 |
uncertain significance |
NM_000497.4(CYP11B1):c.1393C>T (p.His465Tyr) | single nucleotide variant | not specified [RCV004699798] | Chr8:142874962 [GRCh38] Chr8:143956378 [GRCh37] Chr8:8q24.3 |
uncertain significance |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |