LOC106799834 (CYP11B2 recombination region) - Rat Genome Database

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Gene: LOC106799834 (CYP11B2 recombination region) Homo sapiens
Analyze
Symbol: LOC106799834
Name: CYP11B2 recombination region
RGD ID: 38616295
Description: This region is known to undergo non-allelic homologous recombination (NAHR) with a similar low-copy repeat region, the CYP11B1 recombination region, located about 34 kb centromere-proximal this region, in direct orientation on the reference genome. Duplications and deletions of the intervening sequence as a result of NAHR between these recombination regions have been observed. Duplications can result in a chimeric CYP11B1-CYP11B2 gene, and is a cause of familial hyperaldosteronism type I (FH-I), an autosomal dominant disorder characterized by an overproduction of aldosterone, causing hypertension. The chimeric CYP11B1-CYP11B2 gene displays aldosterone synthase activity that is regulated by adrenocorticotropic hormone (ACTH) rather than angiostensin II. This disorder is also known as glucocorticoid-remediable aldosteronism (GRA) since it can be treated by administering glucocorticoids. NAHR events between this region and the CYP11B2 recombination region can also result in deletions of the intervening sequence, and formation of a CYP11B2-CYP11B1 chimeric gene, and can be a cause of 11-beta-hydroxylase congenital adrenal hyperplasia (11beta-OH CAH), an autosomal recessive disorder. The CYP11B2-CYP11B1 chimera is regulated by angiotensin II and potassium, instead of ACTH. A meiotic recombination hotspot has also been mapped to this region, and HapMap data shows a slight elevation in recombination frequencies. [provided by RefSeq, Oct 2016]
Type: biological-region
RefSeq Status: REVIEWED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388142,903,458 - 142,918,174 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378143,984,874 - 143,999,590 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map8q21-q22NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References
Additional References at PubMed
PMID:1731223   PMID:7614815   PMID:9851772   PMID:11443188   PMID:11549691   PMID:16024935   PMID:20634641   PMID:20808686   PMID:20981099   PMID:25395542   PMID:26066897  


Genomics


Expression


Sequence



Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000498.3(CYP11B2):c.1122-4C>T single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278110] Chr8:142912889 [GRCh38]
Chr8:143994305 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.1035G>C (p.Leu345=) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278112] Chr8:142913371 [GRCh38]
Chr8:143994787 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.159G>A (p.Leu53=) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278649] Chr8:142917682 [GRCh38]
Chr8:143999098 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.59G>A (p.Arg20Lys) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278652] Chr8:142917782 [GRCh38]
Chr8:143999198 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.1341G>A (p.Met447Ile) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278105] Chr8:142912587 [GRCh38]
Chr8:143994003 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.1030A>G (p.Ser344Gly) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278113] Chr8:142913376 [GRCh38]
Chr8:143994792 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.955-10G>T single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278116] Chr8:142913461 [GRCh38]
Chr8:143994877 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.1272T>C (p.Asn424=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001273469]|not provided [RCV000969549] Chr8:142912656 [GRCh38]
Chr8:143994072 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000498.3(CYP11B2):c.*789G>A single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000283610]|Corticosterone methyloxidase type 2 deficiency [RCV000396782]|Hyperaldosteronism, familial, type I [RCV000340999] Chr8:142911191 [GRCh38]
Chr8:143992607 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.*566C>T single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000285898]|Corticosterone methyloxidase type 2 deficiency [RCV000334889]|Hyperaldosteronism, familial, type I [RCV000380143] Chr8:142911414 [GRCh38]
Chr8:143992830 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_000498.3(CYP11B2):c.342G>A (p.Glu114=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001159609]|Corticosterone methyloxidase type 2 deficiency [RCV001159607]|Hyperaldosteronism, familial, type I [RCV001159608]|not provided [RCV000944990] Chr8:142917112 [GRCh38]
Chr8:143998528 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000498.3(CYP11B2):c.477G>A (p.Pro159=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000263147]|Corticosterone methyloxidase type 2 deficiency [RCV000374419]|Hyperaldosteronism, familial, type I [RCV000315985]|not provided [RCV000897922] Chr8:142915164 [GRCh38]
Chr8:143996580 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_000498.3(CYP11B2):c.39G>A (p.Ala13=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001275487]|not provided [RCV000977629] Chr8:142917802 [GRCh38]
Chr8:143999218 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000498.3(CYP11B2):c.545_546dup (p.Ser183fs) duplication not provided [RCV000819581] Chr8:142915094..142915095 [GRCh38]
Chr8:143996510..143996511 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.1398+2T>G single nucleotide variant not provided [RCV001049059] Chr8:142912528 [GRCh38]
Chr8:143993944 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.800-14T>C single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000350320]|Corticosterone methyloxidase type 2 deficiency [RCV000394655]|Hyperaldosteronism, familial, type I [RCV000293062] Chr8:142914432 [GRCh38]
Chr8:143995848 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.*204C>G single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000403348]|Corticosterone methyloxidase type 2 deficiency [RCV000350208]|Hyperaldosteronism, familial, type I [RCV000295178] Chr8:142911776 [GRCh38]
Chr8:143993192 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.139_148del (p.Gly46_Asn47insTer) deletion Corticosterone 18-monooxygenase deficiency [RCV001195423]|not provided [RCV001051643] Chr8:142917693..142917702 [GRCh38]
Chr8:143999109..143999118 [GRCh37]
Chr8:8q24.3
pathogenic|likely 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
NM_000498.3(CYP11B2):c.801T>C (p.Gly267=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001275476]|not provided [RCV000891435] Chr8:142914417 [GRCh38]
Chr8:143995833 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.1215T>G (p.Val405=) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278109]|not provided [RCV000917843] Chr8:142912713 [GRCh38]
Chr8:143994129 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
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
NM_000498.3(CYP11B2):c.70C>T (p.Leu24=) single nucleotide variant not provided [RCV000919595] Chr8:142917771 [GRCh38]
Chr8:143999187 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.*81G>A single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000393363]|Corticosterone methyloxidase type 2 deficiency [RCV000356040]|Hyperaldosteronism, familial, type I [RCV000301190] Chr8:142911899 [GRCh38]
Chr8:143993315 [GRCh37]
Chr8:8q24.3
benign
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
NM_000498.3(CYP11B2):c.1039G>A (p.Ala347Thr) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000306484]|Corticosterone methyloxidase type 2 deficiency [RCV000271874]|Hyperaldosteronism, familial, type I [RCV000366392] Chr8:142913367 [GRCh38]
Chr8:143994783 [GRCh37]
Chr8:8q24.3
benign|uncertain significance
NM_000498.3(CYP11B2):c.640C>G (p.His214Asp) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000365143]|Corticosterone methyloxidase type 2 deficiency [RCV000322116]|Hyperaldosteronism, familial, type I [RCV000273132]|not provided [RCV000892319] Chr8:142914864 [GRCh38]
Chr8:143996280 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000498.3(CYP11B2):c.*532G>T single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000346205]|Corticosterone methyloxidase type 2 deficiency [RCV000306434]|Hyperaldosteronism, familial, type I [RCV000394920] Chr8:142911448 [GRCh38]
Chr8:143992864 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.30C>A (p.Cys10Ter) single nucleotide variant not provided [RCV001207883] Chr8:142917811 [GRCh38]
Chr8:143999227 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.*735G>A single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000332815]|Corticosterone methyloxidase type 2 deficiency [RCV000387341]|Hyperaldosteronism, familial, type I [RCV000274392] Chr8:142911245 [GRCh38]
Chr8:143992661 [GRCh37]
Chr8:8q24.3
benign
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
NM_000498.3(CYP11B2):c.*743C>T single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000308428]|Corticosterone methyloxidase type 2 deficiency [RCV000363222]|Hyperaldosteronism, familial, type I [RCV000277997] Chr8:142911237 [GRCh38]
Chr8:143992653 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.1016T>A (p.Ile339Asn) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000278472]|Corticosterone methyloxidase type 2 deficiency [RCV000342872]|Hyperaldosteronism, familial, type I [RCV000372642]|not provided [RCV000892873] Chr8:142913390 [GRCh38]
Chr8:143994806 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000498.3(CYP11B2):c.*299G>A single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000354495]|Corticosterone methyloxidase type 2 deficiency [RCV000324310]|Hyperaldosteronism, familial, type I [RCV000259713] Chr8:142911681 [GRCh38]
Chr8:143993097 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000498.3(CYP11B2):c.945C>T (p.Ser315=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000369828]|Corticosterone methyloxidase type 2 deficiency [RCV000315028]|Hyperaldosteronism, familial, type I [RCV000395007]|not provided [RCV000965712] Chr8:142914273 [GRCh38]
Chr8:143995689 [GRCh37]
Chr8:8q24.3
benign|likely benign
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
NM_000498.3(CYP11B2):c.*431A>C single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000318389]|Corticosterone methyloxidase type 2 deficiency [RCV000366730]|Hyperaldosteronism, familial, type I [RCV000262816] Chr8:142911549 [GRCh38]
Chr8:143992965 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.873G>A (p.Ala291=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000315890]|Corticosterone methyl oxidase type II deficiency [RCV001271153]|Corticosterone methyloxidase type 2 deficiency [RCV000354330]|Hyperaldosteronism, familial, type I [RCV000263084]|not specified [RCV000613874] Chr8:142914345 [GRCh38]
Chr8:143995761 [GRCh37]
Chr8:8q24.3
benign
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
NM_000498.3(CYP11B2):c.89G>A (p.Arg30Gln) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000320888]|Corticosterone methyl oxidase type II deficiency [RCV001271162]|Corticosterone methyloxidase type 2 deficiency [RCV000377865]|Hyperaldosteronism, familial, type I [RCV000268061]|not provided [RCV000969225] Chr8:142917752 [GRCh38]
Chr8:143999168 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000498.3(CYP11B2):c.595+15G>T single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000293540]|Corticosterone methyloxidase type 2 deficiency [RCV000385430]|Hyperaldosteronism, familial, type I [RCV000333354] Chr8:142915031 [GRCh38]
Chr8:143996447 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.*746G>A single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000342527]|Corticosterone methyloxidase type 2 deficiency [RCV000297006]|Hyperaldosteronism, familial, type I [RCV000396774] Chr8:142911234 [GRCh38]
Chr8:143992650 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000498.3(CYP11B2):c.591A>G (p.Ile197Met) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000335545]|Corticosterone methyloxidase type 2 deficiency [RCV000305481]|Hyperaldosteronism, familial, type I [RCV000395978] Chr8:142915050 [GRCh38]
Chr8:143996466 [GRCh37]
Chr8:8q24.3
uncertain significance
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
NM_000498.3(CYP11B2):c.844C>T (p.Arg282Cys) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000283934]|Corticosterone methyloxidase type 2 deficiency [RCV000384246]|Hyperaldosteronism, familial, type I [RCV000327248] Chr8:142914374 [GRCh38]
Chr8:143995790 [GRCh37]
Chr8:8q24.3
benign|uncertain significance
NM_000498.3(CYP11B2):c.424T>C (p.Leu142=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000346107]|Corticosterone methyloxidase type 2 deficiency [RCV000284163]|Hyperaldosteronism, familial, type I [RCV000376315] Chr8:142915217 [GRCh38]
Chr8:143996633 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000498.3(CYP11B2):c.*1178T>C single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000330291]|Corticosterone methyloxidase type 2 deficiency [RCV000387104]|Hyperaldosteronism, familial, type I [RCV000263179] Chr8:142910802 [GRCh38]
Chr8:143992218 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.1080C>T (p.Thr360=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000396944]|Corticosterone methyloxidase type 2 deficiency [RCV000341935]|Hyperaldosteronism, familial, type I [RCV000302342]|not provided [RCV000947143] Chr8:142913326 [GRCh38]
Chr8:143994742 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000498.3(CYP11B2):c.256C>G (p.Pro86Ala) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000357492]|Corticosterone methyloxidase type 2 deficiency [RCV000275370]|Hyperaldosteronism, familial, type I [RCV000300100] Chr8:142917198 [GRCh38]
Chr8:143998614 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000498.3(CYP11B2):c.1016T>C (p.Ile339Thr) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000385370]|Corticosterone methyloxidase type 2 deficiency [RCV000318058]|Hyperaldosteronism, familial, type I [RCV000262745] Chr8:142913390 [GRCh38]
Chr8:143994806 [GRCh37]
Chr8:8q24.3
benign
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
NM_000498.3(CYP11B2):c.674A>G (p.His225Arg) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000304516]|Corticosterone methyloxidase type 2 deficiency [RCV000264588]|Hyperaldosteronism, familial, type I [RCV000361561] Chr8:142914830 [GRCh38]
Chr8:143996246 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000498.3(CYP11B2):c.*972C>G single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000384911]|Corticosterone methyloxidase type 2 deficiency [RCV000346730]|Hyperaldosteronism, familial, type I [RCV000289331] Chr8:142911008 [GRCh38]
Chr8:143992424 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.1353C>T (p.Leu451=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001160463]|Corticosterone methyloxidase type 2 deficiency [RCV001160464]|Hyperaldosteronism, familial, type I [RCV001160465]|not provided [RCV000917179] Chr8:142912575 [GRCh38]
Chr8:143993991 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_000498.3(CYP11B2):c.1098G>T (p.Arg366=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000336090]|Corticosterone methyloxidase type 2 deficiency [RCV000305780]|Hyperaldosteronism, familial, type I [RCV000396937]|not provided [RCV000882731] Chr8:142913308 [GRCh38]
Chr8:143994724 [GRCh37]
Chr8:8q24.3
likely benign
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
NM_000498.3(CYP11B2):c.282G>A (p.Pro94=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001275483]|not provided [RCV000893213] Chr8:142917172 [GRCh38]
Chr8:143998588 [GRCh37]
Chr8:8q24.3
benign|uncertain significance
NM_000498.3(CYP11B2):c.1120C>A (p.Arg374=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000388744]|Corticosterone methyl oxidase type II deficiency [RCV001271152]|Corticosterone methyloxidase type 2 deficiency [RCV000334245]|Hyperaldosteronism, familial, type I [RCV000294441]|not specified [RCV000614059] Chr8:142913286 [GRCh38]
Chr8:143994702 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.606A>G (p.Leu202=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000294724]|Corticosterone methyl oxidase type II deficiency [RCV001271157]|Corticosterone methyloxidase type 2 deficiency [RCV000325823]|Hyperaldosteronism, familial, type I [RCV000382714]|not provided [RCV000963652] Chr8:142914898 [GRCh38]
Chr8:143996314 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000498.3(CYP11B2):c.395+10G>A single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000402832]|Corticosterone methyloxidase type 2 deficiency [RCV000344858]|Hyperaldosteronism, familial, type I [RCV000306272]|not provided [RCV000979338] Chr8:142917049 [GRCh38]
Chr8:143998465 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_000498.3(CYP11B2):c.*239T>C single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000289248]|Corticosterone methyloxidase type 2 deficiency [RCV000344283]|Hyperaldosteronism, familial, type I [RCV000384561] Chr8:142911741 [GRCh38]
Chr8:143993157 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.459C>T (p.Ala153=) single nucleotide variant not provided [RCV000901176] Chr8:142915182 [GRCh38]
Chr8:143996598 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.959C>T (p.Ala320Val) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000345229]|Corticosterone methyloxidase type 2 deficiency [RCV000406067]|Hyperaldosteronism, familial, type I [RCV000309020] Chr8:142913447 [GRCh38]
Chr8:143994863 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.596-4G>A single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278642]|not provided [RCV000983626] Chr8:142914912 [GRCh38]
Chr8:143996328 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000498.3(CYP11B2):c.1006G>A (p.Val336Met) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000378861]|Corticosterone methyloxidase type 2 deficiency [RCV000339480]|Hyperaldosteronism, familial, type I [RCV000284201] Chr8:142913400 [GRCh38]
Chr8:143994816 [GRCh37]
Chr8:8q24.3
benign|uncertain significance
NM_000498.3(CYP11B2):c.798C>T (p.Tyr266=) single nucleotide variant not provided [RCV000911079]|not specified [RCV000434753] Chr8:142914706 [GRCh38]
Chr8:143996122 [GRCh37]
Chr8:8q24.3
benign|likely benign
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
NM_000498.3(CYP11B2):c.702C>T (p.Thr234=) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278120]|not provided [RCV000977614] Chr8:142914802 [GRCh38]
Chr8:143996218 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.1086G>C (p.Leu362=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001162182]|Corticosterone methyloxidase type 2 deficiency [RCV001162180]|Hyperaldosteronism, familial, type I [RCV001162181]|not provided [RCV000978657] Chr8:142913320 [GRCh38]
Chr8:143994736 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_000498.3(CYP11B2):c.9C>A (p.Leu3=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001162585]|Corticosterone methyl oxidase type II deficiency [RCV001275488]|Corticosterone methyloxidase type 2 deficiency [RCV001164639]|Hyperaldosteronism, familial, type I [RCV001164638]|not provided [RCV000916467] Chr8:142917832 [GRCh38]
Chr8:143999248 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000498.3(CYP11B2):c.1398+1G>A single nucleotide variant not provided [RCV001035065] Chr8:142912529 [GRCh38]
Chr8:143993945 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.799+2T>C single nucleotide variant not provided [RCV001239585] Chr8:142914703 [GRCh38]
Chr8:143996119 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_000498.3(CYP11B2):c.412C>T (p.Arg138Cys) single nucleotide variant not provided [RCV000976544] Chr8:142915229 [GRCh38]
Chr8:143996645 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.*537C>T single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000340828]|Corticosterone methyloxidase type 2 deficiency [RCV000394905]|Hyperaldosteronism, familial, type I [RCV000291822] Chr8:142911443 [GRCh38]
Chr8:143992859 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.352G>A (p.Ala118Thr) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000367726]|Corticosterone methyloxidase type 2 deficiency [RCV000315409]|Hyperaldosteronism, familial, type I [RCV000396255] Chr8:142917102 [GRCh38]
Chr8:143998518 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_000498.3(CYP11B2):c.752A>G (p.Lys251Arg) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000394654]|Corticosterone methyloxidase type 2 deficiency [RCV000301527]|Hyperaldosteronism, familial, type I [RCV000353934] Chr8:142914752 [GRCh38]
Chr8:143996168 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
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
NM_000498.3(CYP11B2):c.182A>T (p.Tyr61Phe) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001275485]|not provided [RCV000916860] Chr8:142917659 [GRCh38]
Chr8:143999075 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.1303G>A (p.Gly435Ser) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001162097]|Corticosterone methyl oxidase type II deficiency [RCV001271149]|Corticosterone methyloxidase type 2 deficiency [RCV000393406]|Hyperaldosteronism, familial, type I [RCV001162098]|not specified [RCV000455482] Chr8:142912625 [GRCh38]
Chr8:143994041 [GRCh37]
Chr8:8q24.3
benign
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
NM_000498.3(CYP11B2):c.843C>T (p.Asn281=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001273474]|not provided [RCV000975944] Chr8:142914375 [GRCh38]
Chr8:143995791 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000498.3(CYP11B2):c.768C>T (p.His256=) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001271155]|not provided [RCV000976227] Chr8:142914736 [GRCh38]
Chr8:143996152 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.954+9A>G single nucleotide variant not provided [RCV000909376] Chr8:142914255 [GRCh38]
Chr8:143995671 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.1398+7A>C single nucleotide variant not provided [RCV000915441] Chr8:142912523 [GRCh38]
Chr8:143993939 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.*1246_*1248del deletion Corticosterone 18-monooxygenase deficiency [RCV000355582]|Corticosterone methyloxidase type 2 deficiency [RCV000259490]|Hyperaldosteronism, familial, type I [RCV000298335] Chr8:142910732..142910734 [GRCh38]
Chr8:143992148..143992150 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.326G>A (p.Cys109Tyr) single nucleotide variant not provided [RCV000892101] Chr8:142917128 [GRCh38]
Chr8:143998544 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000269208]|Corticosterone methyl oxidase type II deficiency [RCV001275480]|Corticosterone methyloxidase type 2 deficiency [RCV000366140]|Hyperaldosteronism, familial, type I [RCV000307908]|not specified [RCV000609130] Chr8:142915123 [GRCh38]
Chr8:143996539 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.825C>T (p.Tyr275=) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001271154]|not provided [RCV000891434] Chr8:142914393 [GRCh38]
Chr8:143995809 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.1144T>C (p.Leu382=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000288509]|Corticosterone methyl oxidase type II deficiency [RCV001271150]|Corticosterone methyloxidase type 2 deficiency [RCV000327328]|Hyperaldosteronism, familial, type I [RCV000382899]|not provided [RCV000949533] Chr8:142912863 [GRCh38]
Chr8:143994279 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000498.3(CYP11B2):c.102G>A (p.Thr34=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001275486]|not provided [RCV000968940] Chr8:142917739 [GRCh38]
Chr8:143999155 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000498.3(CYP11B2):c.78T>G (p.Thr26=) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001271164]|not provided [RCV000886832] Chr8:142917763 [GRCh38]
Chr8:143999179 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.891G>A (p.Ala297=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000275205]|Corticosterone methyloxidase type 2 deficiency [RCV000357155]|Hyperaldosteronism, familial, type I [RCV000311623] Chr8:142914327 [GRCh38]
Chr8:143995743 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.679C>T (p.Leu227=) single nucleotide variant not provided [RCV000970191] Chr8:142914825 [GRCh38]
Chr8:143996241 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.800-7T>C single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001275477]|not provided [RCV000891436] Chr8:142914425 [GRCh38]
Chr8:143995841 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.1021C>T (p.Arg341Cys) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000330960]|Corticosterone methyloxidase type 2 deficiency [RCV000370449]|Hyperaldosteronism, familial, type I [RCV000275819] Chr8:142913385 [GRCh38]
Chr8:143994801 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
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
NM_000498.3(CYP11B2):c.1170G>A (p.Leu390=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000361114]|Corticosterone methyloxidase type 2 deficiency [RCV000297061]|Hyperaldosteronism, familial, type I [RCV000266476] Chr8:142912837 [GRCh38]
Chr8:143994253 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.867C>T (p.Ile289=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000376237]|Corticosterone methyloxidase type 2 deficiency [RCV000266543]|Hyperaldosteronism, familial, type I [RCV000323926]|not provided [RCV000927603] Chr8:142914351 [GRCh38]
Chr8:143995767 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000498.3(CYP11B2):c.1209A>G (p.Val403=) single nucleotide variant not provided [RCV000917844] Chr8:142912719 [GRCh38]
Chr8:143994135 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.111G>A (p.Pro37=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000379456]|Corticosterone methyloxidase type 2 deficiency [RCV000317922]|Hyperaldosteronism, familial, type I [RCV000260232]|not provided [RCV000899782] Chr8:142917730 [GRCh38]
Chr8:143999146 [GRCh37]
Chr8:8q24.3
benign|likely benign
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 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(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
NM_000498.3(CYP11B2):c.1122-10C>T single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001271151]|not provided [RCV000891432] Chr8:142912895 [GRCh38]
Chr8:143994311 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.1150C>T (p.Arg384Ter) single nucleotide variant not provided [RCV001050464] Chr8:142912857 [GRCh38]
Chr8:143994273 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.414C>T (p.Arg138=) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001275481]|not provided [RCV000901634] Chr8:142915227 [GRCh38]
Chr8:143996643 [GRCh37]
Chr8:8q24.3
likely benign
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
NM_000498.3(CYP11B2):c.595+14G>A single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000336638]|Corticosterone methyloxidase type 2 deficiency [RCV000404022]|Hyperaldosteronism, familial, type I [RCV000278118] Chr8:142915032 [GRCh38]
Chr8:143996448 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000498.3(CYP11B2):c.743T>C (p.Ile248Thr) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001162390]|Corticosterone methyl oxidase type II deficiency [RCV001275479]|Corticosterone methyloxidase type 2 deficiency [RCV001162389]|Hyperaldosteronism, familial, type I [RCV001160767]|not provided [RCV000964503] Chr8:142914761 [GRCh38]
Chr8:143996177 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_000498.3(CYP11B2):c.*744G>A single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000357554]|Corticosterone methyloxidase type 2 deficiency [RCV000302709]|Hyperaldosteronism, familial, type I [RCV000272062] Chr8:142911236 [GRCh38]
Chr8:143992652 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.27G>A (p.Val9=) single nucleotide variant not provided [RCV000976417] Chr8:142917814 [GRCh38]
Chr8:143999230 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.*579T>C single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000320075]|Corticosterone methyloxidase type 2 deficiency [RCV000279909]|Hyperaldosteronism, familial, type I [RCV000374420] Chr8:142911401 [GRCh38]
Chr8:143992817 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_000498.3(CYP11B2):c.504C>T (p.Phe168=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000370864]|Corticosterone methyl oxidase type II deficiency [RCV001271160]|Corticosterone methyloxidase type 2 deficiency [RCV000273968]|Hyperaldosteronism, familial, type I [RCV000331401]|not specified [RCV000615092] Chr8:142915137 [GRCh38]
Chr8:143996553 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.325T>C (p.Cys109Arg) single nucleotide variant not provided [RCV000892102] Chr8:142917129 [GRCh38]
Chr8:143998545 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.240-1G>A single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001271161]|not provided [RCV001035921] Chr8:142917215 [GRCh38]
Chr8:143998631 [GRCh37]
Chr8:8q24.3
pathogenic
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
NM_000498.3(CYP11B2):c.*1047C>T single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000381469]|Corticosterone methyloxidase type 2 deficiency [RCV000276270]|Hyperaldosteronism, familial, type I [RCV000333731] Chr8:142910933 [GRCh38]
Chr8:143992349 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.842A>G (p.Asn281Ser) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000287551]|Corticosterone methyloxidase type 2 deficiency [RCV000405585]|Hyperaldosteronism, familial, type I [RCV000351587]|not provided [RCV000891433] Chr8:142914376 [GRCh38]
Chr8:143995792 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000498.3(CYP11B2):c.1101G>A (p.Ala367=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000349324]|Corticosterone methyloxidase type 2 deficiency [RCV000281440]|Hyperaldosteronism, familial, type I [RCV000375942]|not provided [RCV000884546] Chr8:142913305 [GRCh38]
Chr8:143994721 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000498.3(CYP11B2):c.476C>T (p.Pro159Leu) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000342621]|Corticosterone methyloxidase type 2 deficiency [RCV000372892]|Hyperaldosteronism, familial, type I [RCV000285419] Chr8:142915165 [GRCh38]
Chr8:143996581 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.85G>A (p.Ala29Thr) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001162582]|Corticosterone methyl oxidase type II deficiency [RCV001271163]|Corticosterone methyloxidase type 2 deficiency [RCV001162583]|Hyperaldosteronism, familial, type I [RCV001162584]|not provided [RCV000888737] Chr8:142917756 [GRCh38]
Chr8:143999172 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.-14G>C single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000381522]|Corticosterone methyloxidase type 2 deficiency [RCV000291813]|Hyperaldosteronism, familial, type I [RCV000345330] Chr8:142917854 [GRCh38]
Chr8:143999270 [GRCh37]
Chr8:8q24.3
likely benign
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
NM_000498.3(CYP11B2):c.225G>A (p.Leu75=) single nucleotide variant not provided [RCV000975247] Chr8:142917616 [GRCh38]
Chr8:143999032 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.529C>T (p.Leu177=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000357855]|Corticosterone methyloxidase type 2 deficiency [RCV000395989]|Hyperaldosteronism, familial, type I [RCV000309100] Chr8:142915112 [GRCh38]
Chr8:143996528 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_000498.3(CYP11B2):c.*504C>T single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000400981]|Corticosterone methyloxidase type 2 deficiency [RCV000312174]|Hyperaldosteronism, familial, type I [RCV000370370] Chr8:142911476 [GRCh38]
Chr8:143992892 [GRCh37]
Chr8:8q24.3
uncertain significance
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 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 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
NM_000498.3(CYP11B2):c.1266G>C (p.Arg422=) single nucleotide variant not provided [RCV000969550] Chr8:142912662 [GRCh38]
Chr8:143994078 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.*591T>G single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001163627]|Corticosterone methyloxidase type 2 deficiency [RCV001163626]|Hyperaldosteronism, familial, type I [RCV001163628] Chr8:142911389 [GRCh38]
Chr8:143992805 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.*876C>A single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001163839]|Corticosterone methyloxidase type 2 deficiency [RCV001163840]|Hyperaldosteronism, familial, type I [RCV001163838] Chr8:142911104 [GRCh38]
Chr8:143992520 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.395+1G>A single nucleotide variant not provided [RCV001247095] Chr8:142917058 [GRCh38]
Chr8:143998474 [GRCh37]
Chr8:8q24.3
likely 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
NM_000498.3(CYP11B2):c.1201-9C>T single nucleotide variant not provided [RCV000982661] Chr8:142912736 [GRCh38]
Chr8:143994152 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.594A>C (p.Glu198Asp) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001271158]|not provided [RCV000793582] Chr8:142915047 [GRCh38]
Chr8:143996463 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic
NM_000498.3(CYP11B2):c.541C>T (p.Arg181Trp) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001271159]|not provided [RCV001043588] Chr8:142915100 [GRCh38]
Chr8:143996516 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.979C>T (p.Leu327Phe) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001159306]|Corticosterone methyloxidase type 2 deficiency [RCV001159308]|Hyperaldosteronism, familial, type I [RCV001159307] Chr8:142913427 [GRCh38]
Chr8:143994843 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.1343G>A (p.Arg448His) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001160467]|Corticosterone methyloxidase type 2 deficiency [RCV001160466]|Hyperaldosteronism, familial, type I [RCV001160468] Chr8:142912585 [GRCh38]
Chr8:143994001 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.924T>C (p.Ser308=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001160671]|Corticosterone methyloxidase type 2 deficiency [RCV001160672]|Hyperaldosteronism, familial, type I [RCV001162286] Chr8:142914294 [GRCh38]
Chr8:143995710 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.796T>G (p.Tyr266Asp) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001160766]|Corticosterone methyloxidase type 2 deficiency [RCV001160764]|Hyperaldosteronism, familial, type I [RCV001160765] Chr8:142914708 [GRCh38]
Chr8:143996124 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.435C>T (p.Asn145=) single nucleotide variant not provided [RCV000883273] Chr8:142915206 [GRCh38]
Chr8:143996622 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.1201-9C>G single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001162103]|Corticosterone methyloxidase type 2 deficiency [RCV001162104]|Hyperaldosteronism, familial, type I [RCV001162102] Chr8:142912736 [GRCh38]
Chr8:143994152 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.369T>A (p.Arg123=) single nucleotide variant not provided [RCV000938368] Chr8:142917085 [GRCh38]
Chr8:143998501 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile) single nucleotide variant Corticosterone methyloxidase type 2 deficiency [RCV000018377]|not provided [RCV000808165] Chr8:142915087 [GRCh38]
Chr8:143996503 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic
NM_000498.3(CYP11B2):c.1002C>T (p.Pro334=) single nucleotide variant not provided [RCV000941381] Chr8:142913404 [GRCh38]
Chr8:143994820 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.624G>T (p.Arg208=) single nucleotide variant not provided [RCV000978810] Chr8:142914880 [GRCh38]
Chr8:143996296 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.1041C>T (p.Ala347=) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001273473]|not provided [RCV000941027] Chr8:142913365 [GRCh38]
Chr8:143994781 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000498.3(CYP11B2):c.1350C>A (p.Cys450Ter) single nucleotide variant not provided [RCV000224086] Chr8:142912578 [GRCh38]
Chr8:143993994 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.1382T>C (p.Leu461Pro) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000018375] Chr8:142912546 [GRCh38]
Chr8:143993962 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.1492A>G (p.Thr498Ala) single nucleotide variant Corticosterone methyloxidase type 2 deficiency [RCV000018381] Chr8:142912000 [GRCh38]
Chr8:143993416 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.814C>T (p.Gln272Ter) single nucleotide variant Corticosterone methyloxidase type 2 deficiency [RCV000018382] Chr8:142914404 [GRCh38]
Chr8:143995820 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.240-9del deletion Corticosterone 18-monooxygenase deficiency [RCV001275484]|not provided [RCV000879605] Chr8:142917223 [GRCh38]
Chr8:143998639 [GRCh37]
Chr8:8q24.3
benign|uncertain significance
NM_000498.3(CYP11B2):c.*1277G>A single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001158813]|Corticosterone methyloxidase type 2 deficiency [RCV001160155]|Hyperaldosteronism, familial, type I [RCV001158814] Chr8:142910703 [GRCh38]
Chr8:143992119 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.*759A>T single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001158919]|Corticosterone methyloxidase type 2 deficiency [RCV001158917]|Hyperaldosteronism, familial, type I [RCV001158918] Chr8:142911221 [GRCh38]
Chr8:143992637 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.1398+10C>T single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001160462]|Corticosterone methyloxidase type 2 deficiency [RCV001159115]|Hyperaldosteronism, familial, type I [RCV001159114] Chr8:142912520 [GRCh38]
Chr8:143993936 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.280C>T (p.Pro94Ser) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001159612]|Corticosterone methyloxidase type 2 deficiency [RCV001159611]|Hyperaldosteronism, familial, type I [RCV001159610] Chr8:142917174 [GRCh38]
Chr8:143998590 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.*613C>T single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001163625]|Corticosterone methyloxidase type 2 deficiency [RCV001163623]|Hyperaldosteronism, familial, type I [RCV001163624] Chr8:142911367 [GRCh38]
Chr8:143992783 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.*25A>C single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001164021]|Corticosterone methyloxidase type 2 deficiency [RCV001164020]|Hyperaldosteronism, familial, type I [RCV001164019] Chr8:142911955 [GRCh38]
Chr8:143993371 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.1015A>G (p.Ile339Val) single nucleotide variant not provided [RCV000892466] Chr8:142913391 [GRCh38]
Chr8:143994807 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.1009C>T (p.Gln337Ter) single nucleotide variant not provided [RCV000804171] Chr8:142913397 [GRCh38]
Chr8:143994813 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.1200+1G>A single nucleotide variant not provided [RCV000811326] Chr8:142912806 [GRCh38]
Chr8:143994222 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_000498.3(CYP11B2):c.595+9C>T single nucleotide variant not provided [RCV000930075] Chr8:142915037 [GRCh38]
Chr8:143996453 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.1014_1015insTA (p.Ile339Ter) insertion not provided [RCV001070730] Chr8:142913391..142913392 [GRCh38]
Chr8:143994807..143994808 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.1265G>A (p.Arg422Gln) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278106] Chr8:142912663 [GRCh38]
Chr8:143994079 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.1022G>A (p.Arg341His) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278114] Chr8:142913384 [GRCh38]
Chr8:143994800 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.800-3C>T single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278118] Chr8:142914421 [GRCh38]
Chr8:143995837 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.101C>T (p.Thr34Met) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278650] Chr8:142917740 [GRCh38]
Chr8:143999156 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.11:g.(?_142875702)_(142912895_?)del deletion not provided [RCV000802588] Chr8:142875702..142912895 [GRCh38]
Chr8:143957118..143994311 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.953C>T (p.Thr318Met) single nucleotide variant not provided [RCV001058716] Chr8:142914265 [GRCh38]
Chr8:143995681 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.1239T>C (p.Asn413=) single nucleotide variant not provided [RCV000954693] Chr8:142912689 [GRCh38]
Chr8:143994105 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.1441A>T (p.Ile481Leu) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001159113]|Corticosterone methyloxidase type 2 deficiency [RCV001159112]|Hyperaldosteronism, familial, type I [RCV001159111] Chr8:142912051 [GRCh38]
Chr8:143993467 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.*298C>A single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001160351]|Corticosterone methyloxidase type 2 deficiency [RCV001160350]|Hyperaldosteronism, familial, type I [RCV001162010] Chr8:142911682 [GRCh38]
Chr8:143993098 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.1216T>G (p.Phe406Val) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001162100]|Corticosterone methyloxidase type 2 deficiency [RCV001162099]|Hyperaldosteronism, familial, type I [RCV001162101] Chr8:142912712 [GRCh38]
Chr8:143994128 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.1116_1117del (p.Leu373fs) deletion not provided [RCV001062790] Chr8:142913289..142913290 [GRCh38]
Chr8:143994705..143994706 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.*879G>A single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001163835]|Corticosterone methyloxidase type 2 deficiency [RCV001163837]|Hyperaldosteronism, familial, type I [RCV001163836] Chr8:142911101 [GRCh38]
Chr8:143992517 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.*993A>G single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001163539]|Corticosterone methyloxidase type 2 deficiency [RCV001163538]|Hyperaldosteronism, familial, type I [RCV001163537] Chr8:142910987 [GRCh38]
Chr8:143992403 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.1240G>C (p.Ala414Pro) single nucleotide variant not provided [RCV000954692] Chr8:142912688 [GRCh38]
Chr8:143994104 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.1227G>T (p.Ser409=) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001273470]|not provided [RCV000936628] Chr8:142912701 [GRCh38]
Chr8:143994117 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.*292_*294dup duplication Corticosterone 18-monooxygenase deficiency [RCV000378643]|Corticosterone methyloxidase type 2 deficiency [RCV000320734]|Hyperaldosteronism, familial, type I [RCV000284409] Chr8:142911685..142911686 [GRCh38]
Chr8:143993101..143993102 [GRCh37]
Chr8:8q24.3
benign
NM_000498.3(CYP11B2):c.449C>T (p.Ser150Leu) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001162489]|Corticosterone methyloxidase type 2 deficiency [RCV001162491]|Hyperaldosteronism, familial, type I [RCV001162490] Chr8:142915192 [GRCh38]
Chr8:143996608 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.427C>T (p.Arg143Trp) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001162493]|Corticosterone methyloxidase type 2 deficiency [RCV001162492]|Hyperaldosteronism, familial, type I [RCV001164534] Chr8:142915214 [GRCh38]
Chr8:143996630 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000498.3(CYP11B2):c.142A>C (p.Arg48=) single nucleotide variant not provided [RCV000981043] Chr8:142917699 [GRCh38]
Chr8:143999115 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.449C>A (p.Ser150Ter) single nucleotide variant not provided [RCV001066442] Chr8:142915192 [GRCh38]
Chr8:143996608 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.845G>A (p.Arg282His) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001164319]|Corticosterone methyloxidase type 2 deficiency [RCV001164318]|Hyperaldosteronism, familial, type I [RCV001164317] Chr8:142914373 [GRCh38]
Chr8:143995789 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.954G>A (p.Thr318=) single nucleotide variant not provided [RCV000815493] Chr8:142914264 [GRCh38]
Chr8:143995680 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000272288]|Corticosterone methyloxidase type 2 deficiency [RCV000357616]|Hyperaldosteronism, familial, type I [RCV000321492]|not provided [RCV000949532] Chr8:142912850 [GRCh38]
Chr8:143994266 [GRCh37]
Chr8:8q24.3
benign|likely benign
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
NM_000498.3(CYP11B2):c.786C>T (p.Cys262=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001275478]|not provided [RCV000928334] Chr8:142914718 [GRCh38]
Chr8:143996134 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000498.3(CYP11B2):c.596-5C>T single nucleotide variant not provided [RCV000982277] Chr8:142914913 [GRCh38]
Chr8:143996329 [GRCh37]
Chr8:8q24.3
likely benign
NM_000498.3(CYP11B2):c.763G>T (p.Glu255Ter) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV000018376]|Corticosterone methyl oxidase type II deficiency [RCV001271156]|not provided [RCV001059131] Chr8:142914741 [GRCh38]
Chr8:143996157 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.*1340T>A single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001158811]|Corticosterone methyloxidase type 2 deficiency [RCV001158812]|Hyperaldosteronism, familial, type I [RCV001158810] Chr8:142910640 [GRCh38]
Chr8:143992056 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.1136G>T (p.Gly379Val) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001159212]|Corticosterone methyloxidase type 2 deficiency [RCV001159211]|Hyperaldosteronism, familial, type I [RCV001159213] Chr8:142912871 [GRCh38]
Chr8:143994287 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.157C>T (p.Leu53=) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001160998]|Corticosterone methyloxidase type 2 deficiency [RCV001160996]|Hyperaldosteronism, familial, type I [RCV001160997] Chr8:142917684 [GRCh38]
Chr8:143999100 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.*205G>A single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001162011]|Corticosterone methyloxidase type 2 deficiency [RCV001162013]|Hyperaldosteronism, familial, type I [RCV001162012] Chr8:142911775 [GRCh38]
Chr8:143993191 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.251dup (p.Gly85fs) duplication not provided [RCV001048165] Chr8:142917202..142917203 [GRCh38]
Chr8:143998618..143998619 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000498.3(CYP11B2):c.1454A>G (p.Tyr485Cys) single nucleotide variant Corticosterone 18-monooxygenase deficiency [RCV001159109]|Corticosterone methyloxidase type 2 deficiency [RCV001159110]|Hyperaldosteronism, familial, type I [RCV001159108] Chr8:142912038 [GRCh38]
Chr8:143993454 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.1227G>A (p.Ser409=) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278108] Chr8:142912701 [GRCh38]
Chr8:143994117 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.954+7C>T single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278117] Chr8:142914257 [GRCh38]
Chr8:143995673 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.395+6C>T single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278646] Chr8:142917053 [GRCh38]
Chr8:143998469 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.961T>A (p.Phe321Ile) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278115] Chr8:142913445 [GRCh38]
Chr8:143994861 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.590T>C (p.Ile197Thr) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278643] Chr8:142915051 [GRCh38]
Chr8:143996467 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.493G>T (p.Ala165Ser) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278645] Chr8:142915148 [GRCh38]
Chr8:143996564 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.1253C>T (p.Pro418Leu) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278107] Chr8:142912675 [GRCh38]
Chr8:143994091 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.1096C>T (p.Arg366Trp) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278111] Chr8:142913310 [GRCh38]
Chr8:143994726 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.537C>T (p.Asn179=) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278644] Chr8:142915104 [GRCh38]
Chr8:143996520 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.38C>T (p.Ala13Val) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278653] Chr8:142917803 [GRCh38]
Chr8:143999219 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.737G>A (p.Arg246His) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278119] Chr8:142914767 [GRCh38]
Chr8:143996183 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.677C>T (p.Ala226Val) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278121] Chr8:142914827 [GRCh38]
Chr8:143996243 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.635T>C (p.Val212Ala) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278641] Chr8:142914869 [GRCh38]
Chr8:143996285 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.384C>T (p.Gly128=) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278647] Chr8:142917070 [GRCh38]
Chr8:143998486 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.260G>A (p.Arg87His) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278648] Chr8:142917194 [GRCh38]
Chr8:143998610 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.30C>T (p.Cys10=) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278654] Chr8:142917811 [GRCh38]
Chr8:143999227 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000498.3(CYP11B2):c.84C>T (p.Ala28=) single nucleotide variant Corticosterone methyl oxidase type II deficiency [RCV001278651] Chr8:142917757 [GRCh38]
Chr8:143999173 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
COSMIC LOC106799834 COSMIC
GTEx LOC106799834 GTEx
Human Proteome Map LOC106799834 Human Proteome Map
NCBI Gene LOC106799834 ENTREZGENE