LOC106799833 (CYP11B1 recombination region) - Rat Genome Database

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Gene: LOC106799833 (CYP11B1 recombination region) Homo sapiens
Analyze
Symbol: LOC106799833
Name: CYP11B1 recombination region
RGD ID: 38674296
Description: This region is known to undergo non-allelic homologous recombination (NAHR) with a similar low-copy repeat region, the CYP11B2 recombination region, located about 34 kb centromere-distal to 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-1), 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. HapMap data indicates that there is a slight elevation in meiotic recombination frequencies in this region. [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
GRCh388142,874,234 - 142,879,022 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378143,955,650 - 143,960,438 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map8q21NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References
Additional References at PubMed
PMID:1731223   PMID:7614815   PMID:9851772   PMID:11443188   PMID:11549691   PMID:15324322   PMID:16024935   PMID:18661760   PMID:20634641   PMID:20808686   PMID:20981099   PMID:25555247  
PMID:26066897  


Genomics


Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_046132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC083841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000497.4(CYP11B1):c.1343G>C (p.Arg448Pro) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001332501] Chr8:142875012 [GRCh38]
Chr8:143956428 [GRCh37]
Chr8:8q24.3
pathogenic
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
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.1122G>A (p.Arg374=) single nucleotide variant not provided [RCV000873627] Chr8:142875312 [GRCh38]
Chr8:143956728 [GRCh37]
Chr8:8q24.3
likely benign
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 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(chr8:77480050-145068712)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 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_000497.3(CYP11B1):c.1331G>A (p.Gly444Asp) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000672120]|not provided [RCV000224289] Chr8:142875024 [GRCh38]
Chr8:143956440 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic
NM_000497.3(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.1012C>T (p.Gln338Ter) single nucleotide variant not provided [RCV001210277] Chr8:142875821 [GRCh38]
Chr8:143957237 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000497.3(CYP11B1):c.1398+5G>C single nucleotide variant not provided [RCV000711396] Chr8:142874952 [GRCh38]
Chr8:143956368 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.835G>A (p.Ala279Thr) single nucleotide variant not provided [RCV000484244] Chr8:142876360 [GRCh38]
Chr8:143957776 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.969G>T (p.Leu323Phe) single nucleotide variant not specified [RCV000517472] Chr8:142875864 [GRCh38]
Chr8:143957280 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.823T>C (p.Tyr275His) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000282706]|Hyperaldosteronism, familial, type I [RCV000349385]|not provided [RCV000875628] Chr8:142876372 [GRCh38]
Chr8:143957788 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
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_000497.3(CYP11B1):c.1488C>T (p.Leu496=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000268296]|Hyperaldosteronism, familial, type I [RCV000360638] Chr8:142874397 [GRCh38]
Chr8:143955813 [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
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(chr8:241530-145054634)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_000497.4(CYP11B1):c.766C>T (p.His256Tyr) single nucleotide variant Hyperaldosteronism, familial, type I [RCV001199201] Chr8:142876715 [GRCh38]
Chr8:143958131 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.617G>T (p.Gly206Val) single nucleotide variant not specified [RCV000517090] Chr8:142876864 [GRCh38]
Chr8:143958280 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.1014G>A (p.Gln338=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000325754]|Hyperaldosteronism, familial, type I [RCV000277689]|not provided [RCV000877389]|not specified [RCV000499909] Chr8:142875819 [GRCh38]
Chr8:143957235 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
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
NM_000497.3(CYP11B1):c.1451T>A (p.Val484Asp) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000665161]|Hyperaldosteronism, familial, type I [RCV000354829]|not provided [RCV000711398] Chr8:142874434 [GRCh38]
Chr8:143955850 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
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_000497.3(CYP11B1):c.1098T>G (p.Arg366=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000342727]|Hyperaldosteronism, familial, type I [RCV000304249]|not provided [RCV000517718] Chr8:142875735 [GRCh38]
Chr8:143957151 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000497.3(CYP11B1):c.1328T>C (p.Phe443Ser) single nucleotide variant not provided [RCV000711395] Chr8:142875027 [GRCh38]
Chr8:143956443 [GRCh37]
Chr8:8q24.3
uncertain significance
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_000497.3(CYP11B1):c.1443A>G (p.Ile481Met) single nucleotide variant not provided [RCV000711397] Chr8:142874442 [GRCh38]
Chr8:143955858 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.743C>T (p.Thr248Ile) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000365375]|Hyperaldosteronism, familial, type I [RCV000308366]|not provided [RCV000873572]|not specified [RCV000422800] Chr8:142876738 [GRCh38]
Chr8:143958154 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000497.3(CYP11B1):c.748C>T (p.Pro250Ser) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000401123]|Hyperaldosteronism, familial, type I [RCV000371156] Chr8:142876733 [GRCh38]
Chr8:143958149 [GRCh37]
Chr8:8q24.3
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_000497.3(CYP11B1):c.800-14C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000314377]|Hyperaldosteronism, familial, type I [RCV000395352]|not provided [RCV000516230] Chr8:142876409 [GRCh38]
Chr8:143957825 [GRCh37]
Chr8:8q24.3
benign
NM_000497.3(CYP11B1):c.825T>C (p.Tyr275=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000335488]|Hyperaldosteronism, familial, type I [RCV000395358]|not provided [RCV000873646]|not specified [RCV001289403] Chr8:142876370 [GRCh38]
Chr8:143957786 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
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_000497.3(CYP11B1):c.1343G>A (p.Arg448His) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000001230]|Hyperaldosteronism, familial, type I [RCV001199200]|not provided [RCV000791917] Chr8:142875012 [GRCh38]
Chr8:143956428 [GRCh37]
Chr8:8q24.3
pathogenic|likely 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
NM_000497.3(CYP11B1):c.*132T>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000398771]|Hyperaldosteronism, familial, type I [RCV000303302] Chr8:142874241 [GRCh38]
Chr8:143955657 [GRCh37]
Chr8:8q24.3
benign
NM_000497.3(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.596-41C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001250134] Chr8:142876926 [GRCh38]
Chr8:143958342 [GRCh37]
Chr8:8q24.3
benign
NM_000497.3(CYP11B1):c.1090T>C (p.Leu364=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000401066]|Hyperaldosteronism, familial, type I [RCV000298406]|not provided [RCV000918087] Chr8:142875743 [GRCh38]
Chr8:143957159 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000497.3(CYP11B1):c.954+9G>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000376915]|Hyperaldosteronism, familial, type I [RCV000329356] Chr8:142876232 [GRCh38]
Chr8:143957648 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000497.3(CYP11B1):c.538G>A (p.Ala180Thr) single nucleotide variant not provided [RCV000711403] Chr8:142877080 [GRCh38]
Chr8:143958496 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.1015G>A (p.Ala339Thr) single nucleotide variant Congenital adrenal hyperplasia [RCV000029634]|not specified [RCV000516792] Chr8:142875818 [GRCh38]
Chr8:143957234 [GRCh37]
Chr8:8q24.3
uncertain significance
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 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_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
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_000497.3(CYP11B1):c.554C>G (p.Thr185Ser) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000324614]|Hyperaldosteronism, familial, type I [RCV000372260]|not provided [RCV000711404] Chr8:142877064 [GRCh38]
Chr8:143958480 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000497.3(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_000497.3(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.465G>C (p.Gln155His) single nucleotide variant not provided [RCV000991868] Chr8:142877153 [GRCh38]
Chr8:143958569 [GRCh37]
Chr8:8q24.3
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_000497.4(CYP11B1):c.476C>T (p.Pro159Leu) single nucleotide variant not provided [RCV000991869] Chr8:142877142 [GRCh38]
Chr8:143958558 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.4(CYP11B1):c.1136G>T (p.Gly379Val) single nucleotide variant not provided [RCV001219956] Chr8:142875298 [GRCh38]
Chr8:143956714 [GRCh37]
Chr8:8q24.3
likely 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
NM_000497.3(CYP11B1):c.1003A>G (p.Asn335Asp) single nucleotide variant Congenital adrenal hyperplasia [RCV000029633]|Deficiency of steroid 11-beta-monooxygenase [RCV001095249]|Hyperaldosteronism, familial, type I [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_000497.3(CYP11B1):c.799+5G>C single nucleotide variant Congenital adrenal hyperplasia [RCV000029649]|Deficiency of steroid 11-beta-monooxygenase [RCV000665430]|not provided [RCV000517998] Chr8:142876677 [GRCh38]
Chr8:143958093 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001026213.1(CYP11B1):c.1181del (p.Asn394fs) deletion Deficiency of steroid 11-beta-monooxygenase [RCV000668755]|not provided [RCV000518608] Chr8:142875253 [GRCh38]
Chr8:143956669 [GRCh37]
Chr8:8q24.3
pathogenic
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_000497.3(CYP11B1):c.606G>A (p.Leu202=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000272874]|Hyperaldosteronism, familial, type I [RCV000320919]|not provided [RCV000877983] Chr8:142876875 [GRCh38]
Chr8:143958291 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000497.3(CYP11B1):c.1353T>C (p.Leu451=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000274881]|Hyperaldosteronism, familial, type I [RCV000385679]|not provided [RCV000873561]|not specified [RCV000517786] Chr8:142875002 [GRCh38]
Chr8:143956418 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000497.3(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_000497.3(CYP11B1):c.954G>A (p.Thr318=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000667365]|not provided [RCV000516213] Chr8:142876241 [GRCh38]
Chr8:143957657 [GRCh37]
Chr8:8q24.3
likely 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_000497.3(CYP11B1):c.1205T>C (p.Leu402Ser) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000332351]|Hyperaldosteronism, familial, type I [RCV000389302] Chr8:142875150 [GRCh38]
Chr8:143956566 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.930A>G (p.Glu310=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000323554]|Hyperaldosteronism, familial, type I [RCV000284859]|not provided [RCV000874014] Chr8:142876265 [GRCh38]
Chr8:143957681 [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.1038C>T (p.Ala346=) single nucleotide variant not provided [RCV000911629] Chr8:142875795 [GRCh38]
Chr8:143957211 [GRCh37]
Chr8:8q24.3
likely benign
NM_000497.3(CYP11B1):c.1460T>C (p.Phe487Ser) single nucleotide variant not provided [RCV000711399] Chr8:142874425 [GRCh38]
Chr8:143955841 [GRCh37]
Chr8:8q24.3
uncertain significance
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
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 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
NM_000497.3(CYP11B1):c.1015_1016delinsAT (p.Ala339Ile) indel Congenital adrenal hyperplasia [RCV000029635] Chr8:142875817..142875818 [GRCh38]
Chr8:143957233..143957234 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.4(CYP11B1):c.799+9del deletion not provided [RCV000981903] Chr8:142876673 [GRCh38]
Chr8:143958089 [GRCh37]
Chr8:8q24.3
likely benign
NM_000497.3(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.1200+11C>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001165191]|Hyperaldosteronism, familial, type I [RCV001165190] Chr8:142875223 [GRCh38]
Chr8:143956639 [GRCh37]
Chr8:8q24.3
benign|uncertain significance
NM_000497.4(CYP11B1):c.541C>T (p.Arg181Trp) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001165422]|Hyperaldosteronism, familial, type I [RCV001165423] Chr8:142877077 [GRCh38]
Chr8:143958493 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.595+1G>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000667755]|not provided [RCV000732722] Chr8:142877022 [GRCh38]
Chr8:143958438 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic
NM_000497.3(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_000497.3(CYP11B1):c.1399-14G>C single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000319378]|Hyperaldosteronism, familial, type I [RCV000261882]|not specified [RCV000518677] Chr8:142874500 [GRCh38]
Chr8:143955916 [GRCh37]
Chr8:8q24.3
benign
NM_000497.3(CYP11B1):c.595+12G>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000266926]|Hyperaldosteronism, familial, type I [RCV000359290] Chr8:142877011 [GRCh38]
Chr8:143958427 [GRCh37]
Chr8:8q24.3
benign
NM_000497.3(CYP11B1):c.1086G>C (p.Leu362=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000357120]|Hyperaldosteronism, familial, type I [RCV000400145] Chr8:142875747 [GRCh38]
Chr8:143957163 [GRCh37]
Chr8:8q24.3
benign
NM_000497.3(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_000497.3(CYP11B1):c.1021C>A (p.Arg341Ser) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000665440] Chr8:142875812 [GRCh38]
Chr8:143957228 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.412C>T (p.Arg138Cys) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000668003] Chr8:142877206 [GRCh38]
Chr8:143958622 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.1280G>A (p.Arg427His) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000670970] Chr8:142875075 [GRCh38]
Chr8:143956491 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.1128C>A (p.Tyr376Ter) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000671118] Chr8:142875306 [GRCh38]
Chr8:143956722 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_000497.3(CYP11B1):c.1361G>A (p.Arg454His) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000672406] Chr8:142874994 [GRCh38]
Chr8:143956410 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_000497.3(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
uncertain significance
NM_000497.3(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_000497.3(CYP11B1):c.413G>A (p.Arg138His) single nucleotide variant Congenital adrenal hyperplasia [RCV000029647]|Deficiency of steroid 11-beta-monooxygenase [RCV001158699]|Hyperaldosteronism, familial, type I [RCV001165427] Chr8:142877205 [GRCh38]
Chr8:143958621 [GRCh37]
Chr8:8q24.3
likely pathogenic|uncertain significance
NM_000497.4(CYP11B1):c.945C>T (p.Ser315=) single nucleotide variant not provided [RCV000874770] Chr8:142876250 [GRCh38]
Chr8:143957666 [GRCh37]
Chr8:8q24.3
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_000497.3(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_000497.3(CYP11B1):c.995G>A (p.Arg332Gln) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000050227] Chr8:142875838 [GRCh38]
Chr8:143957254 [GRCh37]
Chr8:8q24.3
not provided
NM_000497.3(CYP11B1):c.799+2T>C single nucleotide variant Congenital adrenal hyperplasia [RCV000029648] Chr8:142876680 [GRCh38]
Chr8:143958096 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_000497.3(CYP11B1):c.449C>T (p.Ser150Leu) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000779553]|Hyperaldosteronism, familial, type I [RCV001165426] Chr8:142877169 [GRCh38]
Chr8:143958585 [GRCh37]
Chr8:8q24.3
benign|uncertain significance
NM_000497.4(CYP11B1):c.1465T>C (p.Leu489=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001163111]|Hyperaldosteronism, familial, type I [RCV001163110] Chr8:142874420 [GRCh38]
Chr8:143955836 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000497.4(CYP11B1):c.561C>T (p.Asp187=) single nucleotide variant not provided [RCV000871336] Chr8:142877057 [GRCh38]
Chr8:143958473 [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_000497.3(CYP11B1):c.953C>T (p.Thr318Met) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000001232]|not provided [RCV001066246] Chr8:142876242 [GRCh38]
Chr8:143957658 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000497.3(CYP11B1):c.1120C>A (p.Arg374=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000029637]|Hyperaldosteronism, familial, type I [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_000497.3(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.988C>T (p.Leu330=) single nucleotide variant not provided [RCV000874906] Chr8:142875845 [GRCh38]
Chr8:143957261 [GRCh37]
Chr8:8q24.3
benign
NM_000497.4(CYP11B1):c.459T>C (p.Ala153=) single nucleotide variant not provided [RCV000875264] Chr8:142877159 [GRCh38]
Chr8:143958575 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000497.4(CYP11B1):c.456C>G (p.Asn152Lys) single nucleotide variant not provided [RCV000875265] Chr8:142877162 [GRCh38]
Chr8:143958578 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity
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_000497.3(CYP11B1):c.1016C>T (p.Ala339Val) single nucleotide variant Congenital adrenal hyperplasia [RCV000029636] Chr8:142875817 [GRCh38]
Chr8:143957233 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.1120C>T (p.Arg374Trp) single nucleotide variant Congenital adrenal hyperplasia [RCV000029638] Chr8:142875713 [GRCh38]
Chr8:143957129 [GRCh37]
Chr8:8q24.3
likely pathogenic
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_000497.3(CYP11B1):c.427C>T (p.Arg143Trp) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000050223] Chr8:142877191 [GRCh38]
Chr8:143958607 [GRCh37]
Chr8:8q24.3
likely pathogenic|not provided
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_000497.3(CYP11B1):c.1042G>A (p.Ala348Thr) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000369678]|Hyperaldosteronism, familial, type I [RCV000312683]|not specified [RCV000503743] Chr8:142875791 [GRCh38]
Chr8:143957207 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_000497.4(CYP11B1):c.802G>A (p.Asp268Asn) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001158583]|Hyperaldosteronism, familial, type I [RCV001158582] Chr8:142876393 [GRCh38]
Chr8:143957809 [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]|Hyperaldosteronism, familial, type I [RCV001161808] Chr8:142876849 [GRCh38]
Chr8:143958265 [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]|Hyperaldosteronism, familial, type I [RCV001163211] Chr8:142875876 [GRCh38]
Chr8:143957292 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.4(CYP11B1):c.595+14G>A single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001163321]|Hyperaldosteronism, familial, type I [RCV001163322] Chr8:142877009 [GRCh38]
Chr8:143958425 [GRCh37]
Chr8:8q24.3
uncertain significance
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.912C>G (p.Ile304Met) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001165312]|Hyperaldosteronism, familial, type I [RCV001165311] Chr8:142876283 [GRCh38]
Chr8:143957699 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(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
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_001026213.1(CYP11B1):c.517_519AAG[2] (p.Lys175del) microsatellite Deficiency of steroid 11-beta-monooxygenase [RCV000664716] Chr8:142877093..142877095 [GRCh38]
Chr8:143958509..143958511 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(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_000497.3(CYP11B1):c.992C>T (p.Ala331Val) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000667891] Chr8:142875841 [GRCh38]
Chr8:143957257 [GRCh37]
Chr8:8q24.3
likely pathogenic
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_000497.3(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_000497.3(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_000497.3(CYP11B1):c.422G>A (p.Arg141Gln) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000673573]|not provided [RCV000711402] Chr8:142877196 [GRCh38]
Chr8:143958612 [GRCh37]
Chr8:143955614 [NCBI36]
Chr8:8q24.3
uncertain significance|not provided
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
NM_000497.4(CYP11B1):c.1399-14G>A single nucleotide variant Hyperaldosteronism, familial, type I [RCV001197785] Chr8:142874500 [GRCh38]
Chr8:143955916 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.4(CYP11B1):c.395+10G>A single nucleotide variant not provided [RCV000950947] Chr8:142879022 [GRCh38]
Chr8:143960438 [GRCh37]
Chr8:8q24.3
likely benign
NM_000497.3(CYP11B1):c.1398+4A>G single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000001240] Chr8:142874953 [GRCh38]
Chr8:143956369 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000497.3(CYP11B1):c.595+16G>T single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000001242] Chr8:142877007 [GRCh38]
Chr8:143958423 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000497.3(CYP11B1):c.1269T>G (p.Tyr423Ter) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000001244] Chr8:142875086 [GRCh38]
Chr8:143956502 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic
NM_000497.3(CYP11B1):c.873G>A (p.Ala291=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000278114]|Hyperaldosteronism, familial, type I [RCV000380524]|not specified [RCV000518376] Chr8:142876322 [GRCh38]
Chr8:143957738 [GRCh37]
Chr8:8q24.3
benign
NM_000497.3(CYP11B1):c.1157C>T (p.Ala386Val) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000344753]|Hyperaldosteronism, familial, type I [RCV000287487] Chr8:142875277 [GRCh38]
Chr8:143956693 [GRCh37]
Chr8:8q24.3
benign
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.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_000497.3(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_000497.3(CYP11B1):c.1486del (p.Leu496fs) deletion Deficiency of steroid 11-beta-monooxygenase [RCV000667414] Chr8:142874399 [GRCh38]
Chr8:143955815 [GRCh37]
Chr8:8q24.3
uncertain significance
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
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
NC_000008.11:g.(?_142875702)_(142912895_?)del deletion not provided [RCV000802588] Chr8:142875702..142912895 [GRCh38]
Chr8:143957118..143994311 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000497.3(CYP11B1):c.1145T>G (p.Leu382Arg) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000673616] Chr8:142875289 [GRCh38]
Chr8:143956705 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(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_000497.3(CYP11B1):c.1121G>A (p.Arg374Gln) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000001233] Chr8:142875712 [GRCh38]
Chr8:143957128 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000497.3(CYP11B1):c.956C>T (p.Thr319Met) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000001237] Chr8:142875877 [GRCh38]
Chr8:143957293 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000497.3(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.1272C>T (p.Asn424=) single nucleotide variant not provided [RCV000871388] Chr8:142875083 [GRCh38]
Chr8:143956499 [GRCh37]
Chr8:8q24.3
likely benign
NM_000497.3(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.736C>T (p.Arg246Cys) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001161806]|Hyperaldosteronism, familial, type I [RCV001161805] Chr8:142876745 [GRCh38]
Chr8:143958161 [GRCh37]
Chr8:8q24.3
benign|uncertain significance
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_000497.3(CYP11B1):c.1144C>T (p.Leu382=) single nucleotide variant Congenital adrenal hyperplasia [RCV000029641]|Deficiency of steroid 11-beta-monooxygenase [RCV001095138]|Hyperaldosteronism, familial, type I [RCV000291528]|not provided [RCV000874744] Chr8:142875290 [GRCh38]
Chr8:143956706 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000497.3(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.1276del (p.Gln426fs) deletion not provided [RCV000821868] Chr8:142875079 [GRCh38]
Chr8:143956495 [GRCh37]
Chr8:8q24.3
pathogenic
NM_000497.4(CYP11B1):c.542G>C (p.Arg181Pro) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001165420]|Hyperaldosteronism, familial, type I [RCV001165421] Chr8:142877076 [GRCh38]
Chr8:143958492 [GRCh37]
Chr8:8q24.3
benign|uncertain significance
NM_000497.4(CYP11B1):c.450G>A (p.Ser150=) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001165424]|Hyperaldosteronism, familial, type I [RCV001165425] Chr8:142877168 [GRCh38]
Chr8:143958584 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(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
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_000497.3(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_000497.3(CYP11B1):c.1266C>T (p.Arg422=) single nucleotide variant not provided [RCV000516859] Chr8:142875089 [GRCh38]
Chr8:143956505 [GRCh37]
Chr8:8q24.3
benign|likely benign
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.1358G>A (p.Arg453Gln) single nucleotide variant not provided [RCV001063066] Chr8:142874997 [GRCh38]
Chr8:143956413 [GRCh37]
Chr8:8q24.3
pathogenic
NM_001026213.1(CYP11B1):c.1200+84del deletion Deficiency of steroid 11-beta-monooxygenase [RCV000666356] Chr8:142875150 [GRCh38]
Chr8:143956566 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_000497.3(CYP11B1):c.1151G>A (p.Arg384Gln) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000667465]|Deficiency of steroid 11-beta-monooxygenase [RCV000763177] Chr8:142875283 [GRCh38]
Chr8:143956699 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_000497.3(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_000497.3(CYP11B1):c.1122-12C>T single nucleotide variant Congenital adrenal hyperplasia [RCV000029639] Chr8:142875324 [GRCh38]
Chr8:143956740 [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]|Hyperaldosteronism, familial, type I [RCV001158585] Chr8:142876735 [GRCh38]
Chr8:143958151 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.3(CYP11B1):c.1112A>G (p.Glu371Gly) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV000670290] Chr8:142875721 [GRCh38]
Chr8:143957137 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000497.4(CYP11B1):c.645C>T (p.Ser215=) single nucleotide variant not provided [RCV000876868] Chr8:142876836 [GRCh38]
Chr8:143958252 [GRCh37]
Chr8:8q24.3
likely benign
NM_000497.4(CYP11B1):c.946G>A (p.Val316Met) single nucleotide variant Deficiency of steroid 11-beta-monooxygenase [RCV001290136] Chr8:142876249 [GRCh38]
Chr8:143957665 [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.1325_1332del (p.Pro442fs) deletion not provided [RCV001269700] Chr8:142875023..142875030 [GRCh38]
Chr8:143956439..143956446 [GRCh37]
Chr8:8q24.3
pathogenic

Additional Information

Database Acc Id Source(s)
COSMIC LOC106799833 COSMIC
GTEx LOC106799833 GTEx
Human Proteome Map LOC106799833 Human Proteome Map
NCBI Gene LOC106799833 ENTREZGENE