CYP27A1 (cytochrome P450 family 27 subfamily A member 1) - Rat Genome Database

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Gene: CYP27A1 (cytochrome P450 family 27 subfamily A member 1) Homo sapiens
Analyze
Symbol: CYP27A1
Name: cytochrome P450 family 27 subfamily A member 1
RGD ID: 1346613
HGNC Page HGNC:2605
Description: Enables heme binding activity and monooxygenase activity. Involved in bile acid biosynthetic process; calcitriol biosynthetic process from calciol; and cholesterol catabolic process. Located in mitochondrion. Implicated in cerebrotendinous xanthomatosis. Biomarker of metabolic dysfunction-associated steatohepatitis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 26-hydroxylase; 5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 27-hydroxylase; 5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 27-hydroxylase; cholestanetriol 26-monooxygenase; CP27; CTX; CYP27; cytochrome P-450C27/25; cytochrome P450 27; cytochrome P450, family 27, subfamily A, polypeptide 1; cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1; sterol 26-hydroxylase, mitochondrial; sterol 27-hydroxylase; vitamin D(3) 25-hydroxylase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382218,782,147 - 218,815,293 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2218,781,749 - 218,815,293 (+)EnsemblGRCh38hg38GRCh38
GRCh372219,646,870 - 219,680,016 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,354,949 - 219,388,259 (+)NCBINCBI36Build 36hg18NCBI36
Build 342219,472,209 - 219,505,520NCBI
Celera2213,414,219 - 213,447,784 (+)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2211,499,575 - 211,533,141 (+)NCBIHuRef
CHM1_12219,653,385 - 219,686,914 (+)NCBICHM1_1
T2T-CHM13v2.02219,268,705 - 219,301,851 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
(24S)-24-hydroxycholesterol  (EXP)
(25R)-cholest-5-ene-3beta,26-diol  (EXP,ISO)
(5alpha)-cholestan-3beta-ol  (EXP)
(S)-amphetamine  (ISO)
1,2,3-trilinolenoylglycerol  (ISO)
1,2,3-trilinoleoylglycerol  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2-arachidonoylglycerol  (EXP,ISO)
25-hydroxycholesterol  (EXP,ISO)
26-hydroxycholesterol  (EXP,ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3-methylfuran  (ISO)
3beta-hydroxycholest-5-en-26-oic acid  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
6-propyl-2-thiouracil  (ISO)
7-ketocholesterol  (EXP)
8-Br-cAMP  (EXP)
9-cis-retinoic acid  (EXP)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-4-oxoretinoic acid  (EXP)
AM-251  (ISO)
ammonium chloride  (ISO)
amphotericin B  (ISO)
ampicillin  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
atazanavir sulfate  (EXP)
atorvastatin calcium  (EXP,ISO)
atrazine  (EXP)
Augmentin  (EXP)
benzalkonium chloride  (EXP)
benzene-1,2,4-triol  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-hexachlorocyclohexane  (EXP,ISO)
beta-naphthoflavone  (EXP)
bexarotene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bromuconazole  (ISO)
buspirone  (ISO)
Butylbenzyl phthalate  (ISO)
C60 fullerene  (ISO)
caesium atom  (ISO)
calciol  (ISO)
calcitriol  (EXP,ISO)
carbon nanotube  (ISO)
CGS-21680  (EXP)
chenodeoxycholic acid  (EXP,ISO)
cholesterol  (EXP,ISO)
cholic acid  (ISO)
choline  (ISO)
ciguatoxin CTX1B  (ISO)
clavulanic acid  (EXP)
clofibric acid  (ISO)
copper(II) chloride  (ISO)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
cytarabine  (EXP)
DDE  (EXP,ISO)
deoxycholic acid  (EXP,ISO)
desmosterol  (EXP)
dexamethasone  (EXP)
dibenzofurans  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dimethyl sulfoxide  (EXP)
Diosbulbin B  (ISO)
diosgenin  (ISO)
dioxygen  (ISO)
dipentyl phthalate  (ISO)
diquat  (ISO)
disodium selenite  (ISO)
diuron  (ISO)
elemental selenium  (ISO)
emodin  (ISO)
endosulfan  (ISO)
enilconazole  (ISO)
ethanol  (ISO)
ethylparaben  (EXP)
eugenol  (EXP)
flutamide  (ISO)
folic acid  (ISO)
furan  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
guggulsterone  (EXP)
GW 4064  (ISO)
indometacin  (ISO)
irinotecan  (ISO)
isoniazide  (ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
lanosterol  (EXP)
lead diacetate  (ISO)
levofloxacin  (ISO)
Licochalcone B  (EXP)
linalool  (EXP)
lithocholic acid  (ISO)
melatonin  (ISO)
metformin  (ISO)
methamphetamine  (ISO)
methapyrilene  (ISO)
methimazole  (ISO)
methotrexate  (EXP)
methoxsalen  (ISO)
methyltestosterone  (EXP)
metronidazole  (ISO)
morphine  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (EXP)
neomycin  (ISO)
nickel atom  (EXP,ISO)
nickel dichloride  (ISO)
nickel sulfate  (EXP,ISO)
niclosamide  (EXP)
nimesulide  (ISO)
nitrofen  (ISO)
NS-398  (EXP)
obeticholic acid  (EXP)
oleanolic acid  (ISO)
oxycodone  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorodecanoic acid  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (ISO)
physcion  (ISO)
pirinixic acid  (ISO)
prednisone  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
procymidone  (ISO)
progesterone  (EXP,ISO)
prothioconazole  (ISO)
Prothioconazole-desthio  (ISO)
raloxifene  (ISO)
resveratrol  (EXP,ISO)
rifampicin  (EXP)
rotenone  (ISO)
selenium atom  (ISO)
Senkirkine  (EXP)
serpentine asbestos  (EXP)
simvastatin  (ISO)
sirolimus  (EXP)
sodium dodecyl sulfate  (ISO)
streptozocin  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
Sunset Yellow FCF  (EXP)
taurocholic acid  (ISO)
tauroursodeoxycholic acid  (ISO)
Tesaglitazar  (ISO)
testosterone  (EXP)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
theophylline  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triolein  (ISO)
triphenyl phosphate  (EXP)
Triptolide  (ISO)
tris(2-chloroethyl) phosphate  (ISO)
trovafloxacin  (ISO)
uranium atom  (ISO)
ursodeoxycholic acid  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)
zymosterol  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal atrial septum morphology  (IAGP)
Abnormal auditory evoked potentials  (IAGP)
Abnormal cerebellar peduncle morphology  (IAGP)
Abnormal cerebellum morphology  (IAGP)
Abnormal circulating cholesterol concentration  (IAGP)
Abnormal circulating enzyme concentration or activity  (IAGP)
Abnormal dentate nucleus morphology  (IAGP)
Abnormal eyelid morphology  (IAGP)
Abnormal femur morphology  (IAGP)
Abnormal finger morphology  (IAGP)
Abnormal globus pallidus morphology  (IAGP)
Abnormal lung morphology  (IAGP)
Abnormal motor evoked potentials  (IAGP)
Abnormal periventricular white matter morphology  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormal retinal vascular morphology  (IAGP)
Abnormal tibia morphology  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Abnormality of somatosensory evoked potentials  (IAGP)
Abnormality of the Achilles tendon  (IAGP)
Abnormality of the elbow  (IAGP)
Abnormality of the hand  (IAGP)
Abnormality of the neck  (IAGP)
Abnormality of the plantar skin of foot  (IAGP)
Abnormality of the vertebral spinous processes  (IAGP)
Abnormality of visual evoked potentials  (IAGP)
Aggressive behavior  (IAGP)
Agitation  (IAGP)
Angina pectoris  (IAGP)
Ankle clonus  (IAGP)
Ataxia  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axonal degeneration  (IAGP)
Babinski sign  (IAGP)
Cataract  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral atrophy  (IAGP)
Cholelithiasis  (IAGP)
Chronic diarrhea  (IAGP)
CNS demyelination  (IAGP)
Cognitive impairment  (IAGP)
Decreased nerve conduction velocity  (IAGP)
Delayed somatosensory central conduction time  (IAGP)
Delusion  (IAGP)
Dementia  (IAGP)
Depression  (IAGP)
Diarrhea  (IAGP)
Distal amyotrophy  (IAGP)
Dysarthria  (IAGP)
Dystonia  (IAGP)
EEG with generalized slow activity  (IAGP)
Elevated brain choline level by MRS  (IAGP)
Elevated brain lactate level by MRS  (IAGP)
Elevated circulating bile alcohol concentration  (IAGP)
Elevated CSF cholestanol concentration  (IAGP)
Elevated urinary bile alcohol level  (IAGP)
EMG: axonal abnormality  (IAGP)
Gait disturbance  (IAGP)
Gliosis  (IAGP)
Global brain atrophy  (IAGP)
Hallucinations  (IAGP)
Hyperintensity of cerebral white matter on MRI  (IAGP)
Hypermyelinated retinal nerve fibers  (IAGP)
Hyperreflexia  (IAGP)
Hypothyroidism  (IAGP)
Increased circulating lactate concentration  (IAGP)
Increased susceptibility to fractures  (IAGP)
Intellectual disability  (IAGP)
Juvenile cataract  (IAGP)
Late young adult onset  (IAGP)
Long-tract signs  (IAGP)
Lower limb muscle weakness  (IAGP)
Mitochondrial respiratory chain defects  (IAGP)
Myelopathy  (IAGP)
Myocardial infarction  (IAGP)
Neurodevelopmental delay  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Optic disc pallor  (IAGP)
Optic neuropathy  (IAGP)
Orofacial dyskinesia  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Palatal tremor  (IAGP)
Paraparesis  (IAGP)
Parkinsonism  (IAGP)
Peripheral neuropathy  (IAGP)
Personality disorder  (IAGP)
Pes cavus  (IAGP)
Precocious atherosclerosis  (IAGP)
Premature coronary artery atherosclerosis  (IAGP)
Premature loss of teeth  (IAGP)
Prematurely aged appearance  (IAGP)
Progressive psychomotor deterioration  (IAGP)
Prolonged neonatal jaundice  (IAGP)
Proptosis  (IAGP)
Pseudobulbar paralysis  (IAGP)
Respiratory insufficiency  (IAGP)
Resting tremor  (IAGP)
Seizure  (IAGP)
Short attention span  (IAGP)
Somatic sensory dysfunction  (IAGP)
Spastic paraparesis  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Suicidal ideation  (IAGP)
Tendon xanthomatosis  (IAGP)
Thoracic kyphosis  (IAGP)
Tuberous xanthoma  (IAGP)
Visual impairment  (IAGP)
Xanthelasma  (IAGP)
Xanthomatosis  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. Cali JJ, etal., J Biol Chem. 1991 Apr 25;266(12):7779-83.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Suppressed hepatic bile acid signalling despite elevated production of primary and secondary bile acids in NAFLD. Jiao N, etal., Gut. 2018 Oct;67(10):1881-1891. doi: 10.1136/gutjnl-2017-314307. Epub 2017 Aug 3.
4. Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets. Kitanaka S, etal., N Engl J Med. 1998 Mar 5;338(10):653-61.
5. Disturbed cholesterol homeostasis in a peroxisome-deficient PEX2 knockout mouse model. Kovacs WJ, etal., Mol Cell Biol. 2004 Jan;24(1):1-13.
6. Reverse cholesterol transport and cholesterol efflux in atherosclerosis. Ohashi R, etal., QJM. 2005 Dec;98(12):845-56. Epub 2005 Oct 28.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
9. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
13. Modulation of transport and metabolism of bile acids and bilirubin by chlorogenic acid against hepatotoxicity and cholestasis in bile duct ligation rats: involvement of SIRT1-mediated deacetylation of FXR and PGC-1α. Zhu L, etal., J Hepatobiliary Pancreat Sci. 2018 Mar;25(3):195-205. doi: 10.1002/jhbp.537.
Additional References at PubMed
PMID:1708392   PMID:7690968   PMID:7915755   PMID:8125298   PMID:8514861   PMID:9186905   PMID:9215552   PMID:9660774   PMID:9790667   PMID:10519880   PMID:11167933   PMID:11412116  
PMID:11604260   PMID:11903362   PMID:12000359   PMID:12011083   PMID:12077124   PMID:12117727   PMID:12119285   PMID:12242561   PMID:12477932   PMID:12777473   PMID:14672608   PMID:14741198  
PMID:15128046   PMID:15340076   PMID:15465040   PMID:15489334   PMID:15533057   PMID:15708352   PMID:16157755   PMID:16372260   PMID:16584175   PMID:16930540   PMID:17088262   PMID:17292862  
PMID:17482558   PMID:17697869   PMID:17875655   PMID:18227423   PMID:18791760   PMID:19255064   PMID:19343046   PMID:19671838   PMID:19852851   PMID:19913121   PMID:20149624   PMID:20301317  
PMID:20301583   PMID:20402754   PMID:20450308   PMID:20558929   PMID:20628086   PMID:20654748   PMID:20809279   PMID:20855565   PMID:20877624   PMID:21049985   PMID:21134350   PMID:21258856  
PMID:21411718   PMID:21498512   PMID:21873635   PMID:21958693   PMID:21988832   PMID:22018287   PMID:22185844   PMID:22199357   PMID:22227097   PMID:22509407   PMID:23686814   PMID:24029861  
PMID:24080357   PMID:24096962   PMID:24280213   PMID:24501781   PMID:24584636   PMID:24732451   PMID:25447658   PMID:25845986   PMID:26344197   PMID:26374826   PMID:26638999   PMID:26643207  
PMID:26844446   PMID:26891232   PMID:27259383   PMID:27792005   PMID:28130224   PMID:28190002   PMID:28229379   PMID:28306719   PMID:28337550   PMID:28396342   PMID:28590052   PMID:28623566  
PMID:29116467   PMID:29269672   PMID:29935100   PMID:30088172   PMID:30563407   PMID:30668811   PMID:30867220   PMID:31520221   PMID:31774068   PMID:31875301   PMID:32344004   PMID:32457219  
PMID:33058307   PMID:33107041   PMID:33176848   PMID:33400472   PMID:33794192   PMID:34800366   PMID:34930075   PMID:35810773   PMID:35906200   PMID:35944360   PMID:35969149   PMID:36215168  
PMID:36811281   PMID:36872411   PMID:37981011   PMID:38183874   PMID:38336741   PMID:38704863  


Genomics

Comparative Map Data
CYP27A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382218,782,147 - 218,815,293 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2218,781,749 - 218,815,293 (+)EnsemblGRCh38hg38GRCh38
GRCh372219,646,870 - 219,680,016 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,354,949 - 219,388,259 (+)NCBINCBI36Build 36hg18NCBI36
Build 342219,472,209 - 219,505,520NCBI
Celera2213,414,219 - 213,447,784 (+)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2211,499,575 - 211,533,141 (+)NCBIHuRef
CHM1_12219,653,385 - 219,686,914 (+)NCBICHM1_1
T2T-CHM13v2.02219,268,705 - 219,301,851 (+)NCBIT2T-CHM13v2.0
Cyp27a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39174,752,311 - 74,777,056 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl174,752,733 - 74,777,051 (+)EnsemblGRCm39 Ensembl
GRCm38174,713,148 - 74,737,897 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl174,713,574 - 74,737,892 (+)EnsemblGRCm38mm10GRCm38
MGSCv37174,760,148 - 74,784,464 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36174,646,781 - 74,671,097 (+)NCBIMGSCv36mm8
Celera175,268,638 - 75,292,903 (+)NCBICelera
Cytogenetic Map1C4NCBI
cM Map138.54NCBI
Cyp27a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8983,712,402 - 83,743,222 (+)NCBIGRCr8
mRatBN7.2976,264,655 - 76,294,551 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl976,264,860 - 76,294,551 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx984,709,826 - 84,739,736 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0989,838,774 - 89,868,679 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0988,224,941 - 88,254,850 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0981,968,285 - 81,998,213 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl981,968,332 - 81,998,169 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0981,730,705 - 81,760,595 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4974,039,204 - 74,068,648 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1974,186,068 - 74,215,629 (+)NCBI
Celera973,837,312 - 73,867,002 (+)NCBICelera
Cytogenetic Map9q33NCBI
LOC102004889
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545314,601,444 - 14,647,366 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545314,601,495 - 14,647,383 (-)NCBIChiLan1.0ChiLan1.0
CYP27A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213121,414,455 - 121,449,699 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B121,430,782 - 121,464,669 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B106,042,235 - 106,076,840 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B224,637,238 - 224,671,474 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B224,637,238 - 224,671,474 (+)Ensemblpanpan1.1panPan2
CYP27A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13725,366,475 - 25,401,978 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3725,366,472 - 25,401,509 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3726,186,269 - 26,221,708 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03725,381,673 - 25,417,125 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3725,382,000 - 25,602,692 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13725,286,426 - 25,321,814 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03725,221,115 - 25,256,548 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03725,241,871 - 25,277,345 (+)NCBIUU_Cfam_GSD_1.0
LOC101963150
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303174,870,819 - 174,907,409 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365691,213,573 - 1,250,589 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365691,213,700 - 1,250,181 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CYP27A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15120,809,959 - 120,852,192 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115120,809,886 - 120,852,196 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215133,798,107 - 133,831,191 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CYP27A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110104,682,437 - 104,723,781 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl10104,682,673 - 104,726,687 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604094,685,776 - 94,722,151 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
LOC101700018
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248236,200,047 - 6,258,001 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248236,199,807 - 6,258,273 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CYP27A1
972 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His) single nucleotide variant Cholestanol storage disease [RCV000670762]|not provided [RCV000727184] Chr2:218814972 [GRCh38]
Chr2:219679695 [GRCh37]
Chr2:2q35		 conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys) single nucleotide variant CYP27A1-related disorder [RCV003398444]|Cholestanol storage disease [RCV000004476]|not provided [RCV000733099] Chr2:218814716 [GRCh38]
Chr2:219679439 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) single nucleotide variant CYP27A1-related disorder [RCV003974793]|Cholestanol storage disease [RCV000004477]|Intellectual disability [RCV001252460]|not provided [RCV000275162] Chr2:218814186 [GRCh38]
Chr2:219678909 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln) single nucleotide variant CYP27A1-related disorder [RCV003415650]|Cholestanol storage disease [RCV000004480]|not provided [RCV001650828] Chr2:218814702 [GRCh38]
Chr2:219679425 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) single nucleotide variant CYP27A1-related disorder [RCV003982823]|Cholestanol storage disease [RCV000004481]|not provided [RCV002264907] Chr2:218814701 [GRCh38]
Chr2:219679424 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) single nucleotide variant Cholestanol storage disease [RCV000004482]|Intellectual disability [RCV001252459]|not provided [RCV000726759] Chr2:218814409 [GRCh38]
Chr2:219679132 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser) single nucleotide variant Cholestanol storage disease [RCV000004483] Chr2:218814186 [GRCh38]
Chr2:219678909 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.434G>A (p.Gly145Glu) single nucleotide variant Cholestanol storage disease [RCV000004485] Chr2:218809755 [GRCh38]
Chr2:219674478 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) single nucleotide variant CYP27A1-related disorder [RCV003430633]|Cholestanol storage disease [RCV000004487]|not provided [RCV000518366] Chr2:218813095 [GRCh38]
Chr2:219677818 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) single nucleotide variant Cholestanol storage disease [RCV000004488]|not provided [RCV000597433] Chr2:218814716 [GRCh38]
Chr2:219679439 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.1503G>A (p.Leu501=) single nucleotide variant Cardiovascular phenotype [RCV002388360]|Cholestanol storage disease [RCV003502549]|not provided [RCV000729072] Chr2:218814937 [GRCh38]
Chr2:219679660 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_000784.4(CYP27A1):c.967C>T (p.Arg323Trp) single nucleotide variant CYP27A1-related disorder [RCV003411670]|Cardiovascular phenotype [RCV004026966]|Cholestanol storage disease [RCV001862168]|not provided [RCV000729197] Chr2:218813046 [GRCh38]
Chr2:219677769 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.845-1G>A single nucleotide variant Cholestanol storage disease [RCV000004478]|not provided [RCV000522490] Chr2:218812923 [GRCh38]
Chr2:219677646 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.844+1G>A single nucleotide variant Cholestanol storage disease [RCV000004479]|not provided [RCV001268682] Chr2:218812750 [GRCh38]
Chr2:219677473 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.1263+1G>A single nucleotide variant CYP27A1-related disorder [RCV004748497]|Cholestanol storage disease [RCV000004484]|not provided [RCV000519339] Chr2:218814459 [GRCh38]
Chr2:219679182 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs) deletion CYP27A1-related disorder [RCV004748498]|Cardiovascular phenotype [RCV004018554]|Cholestanol storage disease [RCV000004486]|not provided [RCV000733619] Chr2:218813022..218813026 [GRCh38]
Chr2:219677745..219677749 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_000784.4(CYP27A1):c.1374C>A (p.Pro458=) single nucleotide variant Cardiovascular phenotype [RCV002381359]|Cholestanol storage disease [RCV000055826] Chr2:218814655 [GRCh38]
Chr2:219679378 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=) single nucleotide variant Cardiovascular phenotype [RCV002453369]|Cholestanol storage disease [RCV000055827]|not provided [RCV001705709]|not specified [RCV000173169] Chr2:218782425 [GRCh38]
Chr2:219647148 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_000784.4(CYP27A1):c.882G>A (p.Glu294=) single nucleotide variant Cardiovascular phenotype [RCV002371897]|Cholestanol storage disease [RCV000055828] Chr2:218812961 [GRCh38]
Chr2:219677684 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=) single nucleotide variant Cardiovascular phenotype [RCV002371898]|Cholestanol storage disease [RCV000055829]|not provided [RCV000838645]|not specified [RCV001795045] Chr2:218812967 [GRCh38]
Chr2:219677690 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_000784.4(CYP27A1):c.1017G>C (p.Thr339=) single nucleotide variant Cholestanol storage disease [RCV000056065] Chr2:218813096 [GRCh38]
Chr2:219677819 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.1061A>G (p.Asp354Gly) single nucleotide variant Cholestanol storage disease [RCV000056067] Chr2:218814064 [GRCh38]
Chr2:219678787 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) single nucleotide variant Cardiovascular phenotype [RCV002345362]|Cholestanol storage disease [RCV000056071]|not provided [RCV001698579]|not specified [RCV000179342] Chr2:218814154 [GRCh38]
Chr2:218814154..218814155 [GRCh38]
Chr2:219678877 [GRCh37]
Chr2:219678877..219678878 [GRCh37]
Chr2:2q35		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_000784.4(CYP27A1):c.1184+1G>A single nucleotide variant CYP27A1-related disorder [RCV004748547]|Cardiovascular phenotype [RCV004018984]|Cholestanol storage disease [RCV000056073]|not provided [RCV000255284] Chr2:218814188 [GRCh38]
Chr2:219678911 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) single nucleotide variant Cholestanol storage disease [RCV000056074]|not provided [RCV000593893] Chr2:218814187 [GRCh38]
Chr2:219678910 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.1185-1G>T single nucleotide variant Cholestanol storage disease [RCV000056075] Chr2:218814379 [GRCh38]
Chr2:219679102 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.1202C>G (p.Pro401Arg) single nucleotide variant Cholestanol storage disease [RCV000056076] Chr2:218814397 [GRCh38]
Chr2:219679120 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys) single nucleotide variant Cholestanol storage disease [RCV000056077] Chr2:218814404 [GRCh38]
Chr2:219679127 [GRCh37]
Chr2:2q35		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp) single nucleotide variant Cholestanol storage disease [RCV000056078]|not provided [RCV000727395] Chr2:218814408 [GRCh38]
Chr2:219679131 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.1222G>T (p.Glu408Ter) single nucleotide variant Cholestanol storage disease [RCV000056079] Chr2:218814417 [GRCh38]
Chr2:219679140 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.1238T>A (p.Val413Asp) single nucleotide variant Cholestanol storage disease [RCV000056080] Chr2:218814433 [GRCh38]
Chr2:219679156 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.1263+5G>T single nucleotide variant Cholestanol storage disease [RCV000056081] Chr2:218814463 [GRCh38]
Chr2:219679186 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.1264-1G>A single nucleotide variant Cholestanol storage disease [RCV000056084] Chr2:218814544 [GRCh38]
Chr2:219679267 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.1402C>T (p.Pro468Ser) single nucleotide variant Cholestanol storage disease [RCV000056090] Chr2:218814683 [GRCh38]
Chr2:219679406 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala) single nucleotide variant Cholestanol storage disease [RCV000056091]|not provided [RCV001785469] Chr2:218814696 [GRCh38]
Chr2:219679419 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_000784.4(CYP27A1):c.305del (p.Pro102fs) deletion Cholestanol storage disease [RCV000056101] Chr2:218809625 [GRCh38]
Chr2:219674348 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.355del (p.Arg119fs) deletion Cholestanol storage disease [RCV000056106] Chr2:218809676 [GRCh38]
Chr2:219674399 [GRCh37]
Chr2:2q35		 pathogenic|not provided
NM_000784.4(CYP27A1):c.373_379del (p.Pro125fs) deletion Cholestanol storage disease [RCV000056109] Chr2:218809689..218809695 [GRCh38]
Chr2:219674412..219674418 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp) single nucleotide variant CYP27A1-related disorder [RCV003415826]|Cholestanol storage disease [RCV000056110]|See cases [RCV002251956]|not provided [RCV001267948] Chr2:218809700 [GRCh38]
Chr2:219674423 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln) single nucleotide variant CYP27A1-related disorder [RCV004748548]|Cholestanol storage disease [RCV000056111]|not provided [RCV003480049] Chr2:218809701 [GRCh38]
Chr2:219674424 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp) single nucleotide variant CYP27A1-related disorder [RCV003894909]|Cholestanol storage disease [RCV000056112]|not provided [RCV001268892] Chr2:218809730 [GRCh38]
Chr2:219674453 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.433G>A (p.Gly145Arg) single nucleotide variant Cholestanol storage disease [RCV000056113]|not provided [RCV001092428] Chr2:218809754 [GRCh38]
Chr2:219674477 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) single nucleotide variant CYP27A1-related disorder [RCV003915020]|Cholestanol storage disease [RCV000056114] Chr2:218809756 [GRCh38]
Chr2:219674479 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) single nucleotide variant Cardiovascular phenotype [RCV002326779]|Cholestanol storage disease [RCV000056115]|not provided [RCV000839224]|not specified [RCV000251233] Chr2:218809759 [GRCh38]
Chr2:219674482 [GRCh37]
Chr2:2q35		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000784.4(CYP27A1):c.446+1G>A single nucleotide variant Cholestanol storage disease [RCV000056116]|not provided [RCV000733190] Chr2:218809768 [GRCh38]
Chr2:219674491 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter) single nucleotide variant Cholestanol storage disease [RCV000056118]|not provided [RCV000444884] Chr2:218812250 [GRCh38]
Chr2:219676973 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_000784.4(CYP27A1):c.583G>T (p.Glu195Ter) single nucleotide variant Cholestanol storage disease [RCV000056123] Chr2:218812358 [GRCh38]
Chr2:219677081 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro) single nucleotide variant CYP27A1-related disorder [RCV003964910]|Cholestanol storage disease [RCV000056130]|not provided [RCV001268441] Chr2:218812421 [GRCh38]
Chr2:219677144 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_000784.4(CYP27A1):c.647-1G>T single nucleotide variant Cholestanol storage disease [RCV000056131] Chr2:218812551 [GRCh38]
Chr2:219677274 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.691C>T (p.Arg231Ter) single nucleotide variant Cholestanol storage disease [RCV000056136] Chr2:218812596 [GRCh38]
Chr2:219677319 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.73del (p.Ala25fs) deletion Cholestanol storage disease [RCV000056139] Chr2:218782252 [GRCh38]
Chr2:219646975 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter) single nucleotide variant Cholestanol storage disease [RCV000056140] Chr2:218812650 [GRCh38]
Chr2:219677373 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_000784.4(CYP27A1):c.752C>A (p.Ser251Ter) single nucleotide variant Cholestanol storage disease [RCV000056141] Chr2:218812657 [GRCh38]
Chr2:219677380 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg) single nucleotide variant Cholestanol storage disease [RCV000056144]|not provided [RCV002292465] Chr2:218812681 [GRCh38]
Chr2:219677404 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000784.4(CYP27A1):c.779G>A (p.Trp260Ter) single nucleotide variant Cholestanol storage disease [RCV000056145] Chr2:218812684 [GRCh38]
Chr2:219677407 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter) single nucleotide variant Cholestanol storage disease [RCV000056148]|not provided [RCV000732382] Chr2:218812713 [GRCh38]
Chr2:219677436 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.819del (p.Asp273fs) deletion CYP27A1-related disorder [RCV004724788]|Cholestanol storage disease [RCV000056149] Chr2:218812724 [GRCh38]
Chr2:219677447 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.850A>T (p.Lys284Ter) single nucleotide variant Cholestanol storage disease [RCV000056153]|not provided [RCV001092429] Chr2:218812929 [GRCh38]
Chr2:219677652 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.852G>A (p.Lys284=) single nucleotide variant Cholestanol storage disease [RCV000056154] Chr2:218812931 [GRCh38]
Chr2:219677654 [GRCh37]
Chr2:2q35		 benign
NM_000784.4(CYP27A1):c.863del (p.Glu288fs) deletion Cholestanol storage disease [RCV000056156] Chr2:218812942 [GRCh38]
Chr2:219677665 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) single nucleotide variant CYP27A1-related disorder [RCV003894910]|Cholestanol storage disease [RCV000056176]|not provided [RCV001267947] Chr2:218809731 [GRCh38]
Chr2:219674454 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|See cases [RCV000052964] Chr2:212614422..227121230 [GRCh38]
Chr2:213479146..227985946 [GRCh37]
Chr2:213187391..227694190 [NCBI36]
Chr2:2q34-36.3		 pathogenic
NM_000784.4(CYP27A1):c.203T>G (p.Phe68Cys) single nucleotide variant Cholestanol storage disease [RCV000664927]|not provided [RCV000116862]|not specified [RCV003479010] Chr2:218782385 [GRCh38]
Chr2:219647108 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.5dup (p.Ala3fs) duplication Cholestanol storage disease [RCV000056127]|not provided [RCV001699027] Chr2:218782186..218782187 [GRCh38]
Chr2:219646909..219646910 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.32G>A (p.Trp11Ter) single nucleotide variant Cholestanol storage disease [RCV001907858] Chr2:218782214 [GRCh38]
Chr2:219646937 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_000784.4(CYP27A1):c.1541T>C (p.Ile514Thr) single nucleotide variant Cardiovascular phenotype [RCV004036278]|Cholestanol storage disease [RCV001303452] Chr2:218814975 [GRCh38]
Chr2:219679698 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.197T>C (p.Leu66Pro) single nucleotide variant Cholestanol storage disease [RCV001312600] Chr2:218782379 [GRCh38]
Chr2:219647102 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1505C>A (p.Ala502Asp) single nucleotide variant CYP27A1-related disorder [RCV003937640]|Cardiovascular phenotype [RCV002390444]|Cholestanol storage disease [RCV000967664]|not provided [RCV001546144]|not specified [RCV000180530] Chr2:218814939 [GRCh38]
Chr2:219679662 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_000784.4(CYP27A1):c.-6C>T single nucleotide variant Cholestanol storage disease [RCV000294686]|not provided [RCV001682882]|not specified [RCV000173170] Chr2:218782177 [GRCh38]
Chr2:219646900 [GRCh37]
Chr2:2q35		 benign|uncertain significance
NM_000784.4(CYP27A1):c.886C>T (p.Gln296Ter) single nucleotide variant CYP27A1-related disorder [RCV004748850]|Cholestanol storage disease [RCV001045736]|not provided [RCV000597135] Chr2:218812965 [GRCh38]
Chr2:219677688 [GRCh37]
Chr2:2q35		 pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3		 pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3		 pathogenic
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys) single nucleotide variant Cardiovascular phenotype [RCV004019950]|Cholestanol storage disease [RCV001850285]|Regression of motor development with severe dystonia and corresponding basal ganglia lesions [RCV000162100]|not provided [RCV000171331]|not specified [RCV001804890] Chr2:218814623 [GRCh38]
Chr2:219679346 [GRCh37]
Chr2:2q35		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_000784.4(CYP27A1):c.891G>T (p.Leu297=) single nucleotide variant CYP27A1-related disorder [RCV003967435]|Cardiovascular phenotype [RCV002444714]|Cholestanol storage disease [RCV001089152]|not provided [RCV000178807] Chr2:218812970 [GRCh38]
Chr2:219677693 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.1343G>A (p.Arg448His) single nucleotide variant Cholestanol storage disease [RCV001826922]|not provided [RCV000712498] Chr2:218814624 [GRCh38]
Chr2:219679347 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.646+4C>T single nucleotide variant CYP27A1-related disorder [RCV003965279]|Cholestanol storage disease [RCV001082198]|not provided [RCV000177089] Chr2:218812425 [GRCh38]
Chr2:219677148 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.3(CYP27A1):c.-370T>C single nucleotide variant Cholestanol storage disease [RCV000265006] Chr2:218781813 [GRCh38]
Chr2:219646536 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.241C>A (p.Leu81Met) single nucleotide variant Cardiovascular phenotype [RCV003165751]|Cholestanol storage disease [RCV000397130]|not provided [RCV000392907] Chr2:218782423 [GRCh38]
Chr2:219647146 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser) single nucleotide variant Cardiovascular phenotype [RCV002348013]|Cholestanol storage disease [RCV000397675]|not provided [RCV000373213] Chr2:218812311 [GRCh38]
Chr2:219677034 [GRCh37]
Chr2:2q35		 conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys) single nucleotide variant CYP27A1-related disorder [RCV003972410]|Cholestanol storage disease [RCV000400254]|not provided [RCV000729208] Chr2:218812608 [GRCh38]
Chr2:219677331 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) single nucleotide variant Cholestanol storage disease [RCV000293606]|not provided [RCV000316531]|not specified [RCV001700029] Chr2:218809597 [GRCh38]
Chr2:219674320 [GRCh37]
Chr2:2q35		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.921G>A (p.Val307=) single nucleotide variant Cardiovascular phenotype [RCV002374577]|Cholestanol storage disease [RCV000260899]|not provided [RCV000956039] Chr2:218813000 [GRCh38]
Chr2:219677723 [GRCh37]
Chr2:2q35		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.792G>A (p.Val264=) single nucleotide variant CYP27A1-related disorder [RCV003967766]|Cardiovascular phenotype [RCV002418120]|Cholestanol storage disease [RCV000265806]|not specified [RCV000284553] Chr2:218812697 [GRCh38]
Chr2:219677420 [GRCh37]
Chr2:2q35		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln) single nucleotide variant CYP27A1-related disorder [RCV003910011]|Cholestanol storage disease [RCV000363976]|not provided [RCV002244740]|not specified [RCV000260963] Chr2:218812353 [GRCh38]
Chr2:219677076 [GRCh37]
Chr2:2q35		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.399G>A (p.Trp133Ter) single nucleotide variant Cholestanol storage disease [RCV000056246] Chr2:218809720 [GRCh38]
Chr2:219674443 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.1174G>A (p.Glu392Lys) single nucleotide variant Cholestanol storage disease [RCV000669600] Chr2:218814177 [GRCh38]
Chr2:219678900 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=) single nucleotide variant Cardiovascular phenotype [RCV002418198]|Cholestanol storage disease [RCV000358090]|not provided [RCV000728807]|not specified [RCV001700067] Chr2:218812694 [GRCh38]
Chr2:219677417 [GRCh37]
Chr2:2q35		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.1185-2A>C single nucleotide variant Cholestanol storage disease [RCV000669626] Chr2:218814378 [GRCh38]
Chr2:219679101 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_000784.4(CYP27A1):c.76_99del (p.Arg26_Ala33del) deletion Cholestanol storage disease [RCV000669852] Chr2:218782255..218782278 [GRCh38]
Chr2:219646978..219647001 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr) single nucleotide variant CYP27A1-related disorder [RCV003422191]|Cholestanol storage disease [RCV000351883]|not provided [RCV000286244]|not specified [RCV001731556] Chr2:218782184 [GRCh38]
Chr2:219646907 [GRCh37]
Chr2:2q35		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.366= (p.Gly122=) single nucleotide variant Cholestanol storage disease [RCV000056108] Chr2:218809687 [GRCh38]
Chr2:219674410 [GRCh37]
Chr2:2q35		 benign
NM_000784.4(CYP27A1):c.1596del (p.Ter532TrpextTer?) deletion Cholestanol storage disease [RCV000668804] Chr2:218815030 [GRCh38]
Chr2:219679753 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1184+9G>T single nucleotide variant CYP27A1-related disorder [RCV003912409]|Cholestanol storage disease [RCV000273860] Chr2:218814196 [GRCh38]
Chr2:219678919 [GRCh37]
Chr2:2q35		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.3(CYP27A1):c.-205C>A single nucleotide variant Cholestanol storage disease [RCV000281692]|not provided [RCV001549986] Chr2:218781978 [GRCh38]
Chr2:219646701 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_000784.4(CYP27A1):c.1434C>A (p.Gly478=) single nucleotide variant not specified [RCV000247722] Chr2:218814715 [GRCh38]
Chr2:219679438 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.673C>T (p.Arg225Cys) single nucleotide variant Cardiovascular phenotype [RCV003372671]|Cholestanol storage disease [RCV001082836]|not provided [RCV000828283]|not specified [RCV000243031] Chr2:218812578 [GRCh38]
Chr2:218812578..218812579 [GRCh38]
Chr2:219677301 [GRCh37]
Chr2:219677301..219677302 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_000784.3(CYP27A1):c.-335C>T single nucleotide variant Cholestanol storage disease [RCV000373874] Chr2:218781848 [GRCh38]
Chr2:219646571 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys) single nucleotide variant Cardiovascular phenotype [RCV002374576]|Cholestanol storage disease [RCV000353347]|not provided [RCV001699326] Chr2:218812950 [GRCh38]
Chr2:219677673 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_000784.4(CYP27A1):c.859G>A (p.Asp287Asn) single nucleotide variant Cholestanol storage disease [RCV000300863] Chr2:218812938 [GRCh38]
Chr2:219677661 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.3(CYP27A1):c.-357dup duplication Cholestanol storage disease [RCV000322434]|not provided [RCV001653620] Chr2:218781824..218781825 [GRCh38]
Chr2:219646547..219646548 [GRCh37]
Chr2:2q35		 benign
NM_000784.4(CYP27A1):c.747G>A (p.Gln249=) single nucleotide variant Cardiovascular phenotype [RCV002392897]|Cholestanol storage disease [RCV000305754]|not provided [RCV001289110] Chr2:218812652 [GRCh38]
Chr2:219677375 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.*47G>A single nucleotide variant Cholestanol storage disease [RCV000331241] Chr2:218815077 [GRCh38]
Chr2:219679800 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) single nucleotide variant CYP27A1-related disorder [RCV003930067]|Cardiovascular phenotype [RCV003372675]|Cholestanol storage disease [RCV000611602]|not provided [RCV000512745]|not specified [RCV000373347] Chr2:218814752 [GRCh38]
Chr2:219679475 [GRCh37]
Chr2:2q35		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.1298G>A (p.Arg433Gln) single nucleotide variant CYP27A1-related disorder [RCV004748693]|Cholestanol storage disease [RCV001859658]|not provided [RCV000272544] Chr2:218814579 [GRCh38]
Chr2:219679302 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.958C>T (p.Leu320Phe) single nucleotide variant CYP27A1-related disorder [RCV003947874]|Cardiovascular phenotype [RCV002379123]|Cholestanol storage disease [RCV002518912]|not provided [RCV000377002] Chr2:218813037 [GRCh38]
Chr2:219677760 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1019C>T (p.Thr340Ile) single nucleotide variant not provided [RCV000341192] Chr2:218814022 [GRCh38]
Chr2:219678745 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1311C>T (p.Ala437=) single nucleotide variant Cholestanol storage disease [RCV001408726]|not provided [RCV000309386] Chr2:218814592 [GRCh38]
Chr2:219679315 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.1085A>G (p.His362Arg) single nucleotide variant Cholestanol storage disease [RCV003105851]|not provided [RCV000282062] Chr2:218814088 [GRCh38]
Chr2:219678811 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1148T>A (p.Met383Lys) single nucleotide variant Cardiovascular phenotype [RCV004021290]|Cholestanol storage disease [RCV001047201]|not provided [RCV000712497] Chr2:218814151 [GRCh38]
Chr2:219678874 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.472C>T (p.Arg158Cys) single nucleotide variant Cholestanol storage disease [RCV001245601]|not provided [RCV000316183]|not specified [RCV004701386] Chr2:218812247 [GRCh38]
Chr2:219676970 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs) duplication Cholestanol storage disease [RCV000595588]|not provided [RCV000367542] Chr2:218782184..218782185 [GRCh38]
Chr2:219646907..219646908 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_000784.4(CYP27A1):c.919G>T (p.Val307Leu) single nucleotide variant Cholestanol storage disease [RCV001341973]|not provided [RCV000290127] Chr2:218812998 [GRCh38]
Chr2:219677721 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1286A>G (p.Tyr429Cys) single nucleotide variant CYP27A1-related disorder [RCV003430826]|Cholestanol storage disease [RCV001850467]|not provided [RCV000291656] Chr2:218814567 [GRCh38]
Chr2:219679290 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.609G>A (p.Ser203=) single nucleotide variant CYP27A1-related disorder [RCV003897621]|Cardiovascular phenotype [RCV002356386]|Cholestanol storage disease [RCV001078696]|not provided [RCV000396852] Chr2:218812384 [GRCh38]
Chr2:219677107 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.649A>C (p.Ile217Leu) single nucleotide variant Cardiovascular phenotype [RCV004609341]|Cholestanol storage disease [RCV001855093]|not provided [RCV000292990] Chr2:218812554 [GRCh38]
Chr2:219677277 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=) single nucleotide variant Cholestanol storage disease [RCV000665225]|not provided [RCV000397921]|not specified [RCV002282102] Chr2:218813096 [GRCh38]
Chr2:219677819 [GRCh37]
Chr2:2q35		 conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.1102_1104delinsTTA (p.Val368Leu) indel CYP27A1-related disorder [RCV003897623]|Cardiovascular phenotype [RCV003372678]|not provided [RCV000365107] Chr2:218814105..218814107 [GRCh38]
Chr2:219678828..219678830 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln) single nucleotide variant CYP27A1-related disorder [RCV003417892]|Cardiovascular phenotype [RCV002347996]|Cholestanol storage disease [RCV001138491]|Intellectual disability [RCV001252458]|not provided [RCV000299535] Chr2:218812266 [GRCh38]
Chr2:219676989 [GRCh37]
Chr2:2q35		 conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.120C>T (p.Ala40=) single nucleotide variant CYP27A1-related disorder [RCV003930117]|Cardiovascular phenotype [RCV002356385]|Cholestanol storage disease [RCV001431442]|not provided [RCV000367259] Chr2:218782302 [GRCh38]
Chr2:219647025 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg) single nucleotide variant Cardiovascular phenotype [RCV002436128]|Cholestanol storage disease [RCV001138169]|not provided [RCV000368208] Chr2:218814117 [GRCh38]
Chr2:219678840 [GRCh37]
Chr2:2q35		 conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.1263+10del deletion Cholestanol storage disease [RCV002504025]|not provided [RCV000267432] Chr2:218814465 [GRCh38]
Chr2:219679191 [GRCh37]
Chr2:2q35		 conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=) single nucleotide variant Cardiovascular phenotype [RCV002392807]|Cholestanol storage disease [RCV000625221]|not provided [RCV000513426]|not specified [RCV001706418] Chr2:218814700 [GRCh38]
Chr2:219679423 [GRCh37]
Chr2:2q35		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_000784.4(CYP27A1):c.315C>T (p.His105=) single nucleotide variant CYP27A1-related disorder [RCV004748840]|Cardiovascular phenotype [RCV003160040]|Cholestanol storage disease [RCV001087651]|not provided [RCV000595224] Chr2:218809636 [GRCh38]
Chr2:219674359 [GRCh37]
Chr2:2q35		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.404A>G (p.Glu135Gly) single nucleotide variant Cholestanol storage disease [RCV001277354]|not specified [RCV004690043] Chr2:218809725 [GRCh38]
Chr2:219674448 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.790G>A (p.Val264Met) single nucleotide variant Cardiovascular phenotype [RCV004024796]|Cholestanol storage disease [RCV001429604]|not provided [RCV000596057] Chr2:218812695 [GRCh38]
Chr2:219677418 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_000784.4(CYP27A1):c.1017+5G>A single nucleotide variant Cholestanol storage disease [RCV001138168]|not provided [RCV000712495] Chr2:218813101 [GRCh38]
Chr2:219677824 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His) single nucleotide variant CYP27A1-related disorder [RCV003420030]|Cholestanol storage disease [RCV001243512]|not provided [RCV000596853] Chr2:218814717 [GRCh38]
Chr2:219679440 [GRCh37]
Chr2:2q35		 likely pathogenic|uncertain significance|no classifications from unflagged records
NM_000784.4(CYP27A1):c.1207A>G (p.Asn403Asp) single nucleotide variant not provided [RCV000596924] Chr2:218814402 [GRCh38]
Chr2:219679125 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.3(CYP27A1):c.-182C>T single nucleotide variant Cholestanol storage disease [RCV000315606] Chr2:218782001 [GRCh38]
Chr2:219646724 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.*153G>C single nucleotide variant Cholestanol storage disease [RCV000383433] Chr2:218815183 [GRCh38]
Chr2:219679906 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.355C>T (p.Arg119Trp) single nucleotide variant Cholestanol storage disease [RCV001276432]|not provided [RCV000517548] Chr2:218809676 [GRCh38]
Chr2:219674399 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.526del (p.Asp176fs) deletion CYP27A1-related disorder [RCV003422309]|Cholestanol storage disease [RCV000307005] Chr2:218812300 [GRCh38]
Chr2:219677023 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_000784.3(CYP27A1):c.-162C>T single nucleotide variant Cholestanol storage disease [RCV000372604] Chr2:218782021 [GRCh38]
Chr2:219646744 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.*195G>C single nucleotide variant Cholestanol storage disease [RCV000291034] Chr2:218815225 [GRCh38]
Chr2:219679948 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.248A>C (p.Gln83Pro) single nucleotide variant Cardiovascular phenotype [RCV004609452]|not provided [RCV000598426] Chr2:218782430 [GRCh38]
Chr2:219647153 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1512G>A (p.Glu504=) single nucleotide variant not provided [RCV000598471] Chr2:218814946 [GRCh38]
Chr2:219679669 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.83A>C (p.Lys28Thr) single nucleotide variant Cardiovascular phenotype [RCV004024799]|Cholestanol storage disease [RCV001054067]|Intellectual disability [RCV001252221]|not provided [RCV000591741] Chr2:218782265 [GRCh38]
Chr2:219646988 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_000784.4(CYP27A1):c.1083G>T (p.Leu361Phe) single nucleotide variant Cholestanol storage disease [RCV001854027]|not provided [RCV000592159] Chr2:218814086 [GRCh38]
Chr2:219678809 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.527A>G (p.Asp176Gly) single nucleotide variant Cholestanol storage disease [RCV000804550]|not provided [RCV000593909] Chr2:218812302 [GRCh38]
Chr2:219677025 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_000784.4(CYP27A1):c.1494G>C (p.Lys498Asn) single nucleotide variant Cardiovascular phenotype [RCV002395539]|Cholestanol storage disease [RCV001048065]|not provided [RCV000592337] Chr2:218814928 [GRCh38]
Chr2:219679651 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.546T>G (p.Ile182Met) single nucleotide variant CYP27A1-related disorder [RCV003900348]|Cardiovascular phenotype [RCV004024823]|Cholestanol storage disease [RCV001854089]|not provided [RCV000591913] Chr2:218812321 [GRCh38]
Chr2:219677044 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.809G>A (p.Arg270Gln) single nucleotide variant Cardiovascular phenotype [RCV004024859]|Cholestanol storage disease [RCV001867995]|not provided [RCV000591939] Chr2:218812714 [GRCh38]
Chr2:219677437 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.682T>C (p.Cys228Arg) single nucleotide variant Cholestanol storage disease [RCV001860218]|not provided [RCV000592487] Chr2:218812587 [GRCh38]
Chr2:219677310 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1 copy number loss not provided [RCV000585275] Chr2:217374144..227643620 [GRCh37]
Chr2:2q35-36.3		 likely pathogenic
NM_000784.4(CYP27A1):c.1342C>A (p.Arg448Ser) single nucleotide variant Cholestanol storage disease [RCV002535151]|not provided [RCV000730339]|not specified [RCV004702376] Chr2:218814623 [GRCh38]
Chr2:219679346 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.624C>T (p.Leu208=) single nucleotide variant CYP27A1-related disorder [RCV003915697]|Cardiovascular phenotype [RCV002368002]|Cholestanol storage disease [RCV001504256]|not provided [RCV000593341] Chr2:218812399 [GRCh38]
Chr2:219677122 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_000784.4(CYP27A1):c.1185-1G>A single nucleotide variant Cholestanol storage disease [RCV001067046]|not provided [RCV000598414] Chr2:218814379 [GRCh38]
Chr2:219679102 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.148G>A (p.Val50Ile) single nucleotide variant Cardiovascular phenotype [RCV002395534]|Cholestanol storage disease [RCV001498426]|not provided [RCV000712499] Chr2:218782330 [GRCh38]
Chr2:219647053 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_000784.4(CYP27A1):c.126A>G (p.Gly42=) single nucleotide variant Cardiovascular phenotype [RCV002377237]|Cholestanol storage disease [RCV001418586]|not provided [RCV000593653] Chr2:218782308 [GRCh38]
Chr2:219647031 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_000784.4(CYP27A1):c.158G>T (p.Arg53Leu) single nucleotide variant Cardiovascular phenotype [RCV003160041]|Cholestanol storage disease [RCV002532535]|not provided [RCV000591335] Chr2:218782340 [GRCh38]
Chr2:219647063 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1175A>C (p.Glu392Ala) single nucleotide variant Cholestanol storage disease [RCV000665470]|not provided [RCV000595187]|not specified [RCV004701692] Chr2:218814178 [GRCh38]
Chr2:219678901 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.788C>G (p.Pro263Arg) single nucleotide variant Cholestanol storage disease [RCV001868956]|not provided [RCV000730595] Chr2:218812693 [GRCh38]
Chr2:219677416 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.447-3C>T single nucleotide variant Cholestanol storage disease [RCV001138490] Chr2:218812219 [GRCh38]
Chr2:219676942 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.613A>G (p.Met205Val) single nucleotide variant Cardiovascular phenotype [RCV004027074]|Cholestanol storage disease [RCV001337168]|not provided [RCV000733752] Chr2:218812388 [GRCh38]
Chr2:219677111 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1381C>T (p.Gln461Ter) single nucleotide variant Cholestanol storage disease [RCV001229793]|not provided [RCV000733808] Chr2:218814662 [GRCh38]
Chr2:219679385 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.699C>A (p.Ile233=) single nucleotide variant Cholestanol storage disease [RCV002535415]|not provided [RCV000735053] Chr2:218812604 [GRCh38]
Chr2:219677327 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.1161A>C (p.Lys387Asn) single nucleotide variant not provided [RCV000731170] Chr2:218814164 [GRCh38]
Chr2:219678887 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.802T>C (p.Trp268Arg) single nucleotide variant Cholestanol storage disease [RCV002535195]|not provided [RCV000731171] Chr2:218812707 [GRCh38]
Chr2:219677430 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met) single nucleotide variant Cardiovascular phenotype [RCV004027028]|Cholestanol storage disease [RCV001080340]|not provided [RCV000732140] Chr2:218812617 [GRCh38]
Chr2:219677340 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.808C>G (p.Arg270Gly) single nucleotide variant Cholestanol storage disease [RCV001142907]|not provided [RCV000732150] Chr2:218812713 [GRCh38]
Chr2:219677436 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1508C>T (p.Pro503Leu) single nucleotide variant CYP27A1-related disorder [RCV004748942]|Cardiovascular phenotype [RCV002388368]|Cholestanol storage disease [RCV001855677]|not provided [RCV000732161] Chr2:218814942 [GRCh38]
Chr2:219679665 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.446+1G>T single nucleotide variant Cholestanol storage disease [RCV001386295]|not provided [RCV000732194] Chr2:218809768 [GRCh38]
Chr2:219674491 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.256-3C>T single nucleotide variant CYP27A1-related disorder [RCV003947949]|Cholestanol storage disease [RCV001855775]|not provided [RCV000733090] Chr2:218809574 [GRCh38]
Chr2:219674297 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_000784.4(CYP27A1):c.1297C>T (p.Arg433Trp) single nucleotide variant CYP27A1-related disorder [RCV004748948]|Cardiovascular phenotype [RCV004609513]|Cholestanol storage disease [RCV001830631]|not provided [RCV000733101] Chr2:218814578 [GRCh38]
Chr2:219679301 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.110C>T (p.Ser37Leu) single nucleotide variant CYP27A1-related disorder [RCV004748959]|Cholestanol storage disease [RCV002477734]|not provided [RCV000735116] Chr2:218782292 [GRCh38]
Chr2:219647015 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1564G>A (p.Val522Met) single nucleotide variant Cardiovascular phenotype [RCV002397502]|Cholestanol storage disease [RCV001430966]|not provided [RCV000728480] Chr2:218814998 [GRCh38]
Chr2:219679721 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_000784.4(CYP27A1):c.132C>T (p.Pro44=) single nucleotide variant Cholestanol storage disease [RCV001506114]|not provided [RCV000730135] Chr2:218782314 [GRCh38]
Chr2:219647037 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_000784.4(CYP27A1):c.63C>G (p.Cys21Trp) single nucleotide variant not provided [RCV000730190]|not specified [RCV001844230] Chr2:218782245 [GRCh38]
Chr2:219646968 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.721G>A (p.Val241Ile) single nucleotide variant Cholestanol storage disease [RCV002535147]|not provided [RCV000730195] Chr2:218812626 [GRCh38]
Chr2:219677349 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1569C>T (p.Gly523=) single nucleotide variant CYP27A1-related disorder [RCV003892673]|Cardiovascular phenotype [RCV002397517]|Cholestanol storage disease [RCV001490273]|not provided [RCV000734413] Chr2:218815003 [GRCh38]
Chr2:219679726 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_000784.4(CYP27A1):c.256-2A>G single nucleotide variant Cholestanol storage disease [RCV001855812]|not provided [RCV000734448] Chr2:218809575 [GRCh38]
Chr2:219674298 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.1101T>G (p.Gly367=) single nucleotide variant Cholestanol storage disease [RCV002535380]|not provided [RCV000734511] Chr2:218814104 [GRCh38]
Chr2:219678827 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_000784.4(CYP27A1):c.490C>T (p.Arg164Trp) single nucleotide variant Cholestanol storage disease [RCV002536419]|not provided [RCV000728935] Chr2:218812265 [GRCh38]
Chr2:219676988 [GRCh37]
Chr2:2q35		 conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.1055C>T (p.Ser352Leu) single nucleotide variant Cardiovascular phenotype [RCV004609514]|Cholestanol storage disease [RCV000792413]|not provided [RCV000733919] Chr2:218814058 [GRCh38]
Chr2:219678781 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.974C>T (p.Ala325Val) single nucleotide variant not provided [RCV000733390] Chr2:218813053 [GRCh38]
Chr2:219677776 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1471G>A (p.Ala491Thr) single nucleotide variant CYP27A1-related disorder [RCV004748954]|Cholestanol storage disease [RCV001462205]|not provided [RCV000734041] Chr2:218814752 [GRCh38]
Chr2:219679475 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NC_000002.12:g.218781747T>C single nucleotide variant not provided [RCV001545313] Chr2:218781747 [GRCh38]
Chr2:219646470 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro) single nucleotide variant CYP27A1-related disorder [RCV003420031]|Cardiovascular phenotype [RCV004024736]|Cholestanol storage disease [RCV000765608]|not provided [RCV000594613] Chr2:218812266 [GRCh38]
Chr2:219676989 [GRCh37]
Chr2:2q35		 conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.1028C>T (p.Thr343Met) single nucleotide variant Cardiovascular phenotype [RCV004027065]|Cholestanol storage disease [RCV002535335]|not provided [RCV000733517] Chr2:218814031 [GRCh38]
Chr2:219678754 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1192C>A (p.Pro398Thr) single nucleotide variant not provided [RCV000734814] Chr2:218814387 [GRCh38]
Chr2:219679110 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1589A>T (p.Gln530Leu) single nucleotide variant not provided [RCV000732696] Chr2:218815023 [GRCh38]
Chr2:219679746 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.776del (p.Lys259fs) deletion not provided [RCV000729758] Chr2:218812680 [GRCh38]
Chr2:219677403 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.1437C>T (p.Arg479=) single nucleotide variant not provided [RCV000729879] Chr2:218814718 [GRCh38]
Chr2:219679441 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1553C>G (p.Pro518Arg) single nucleotide variant Cholestanol storage disease [RCV001868958]|not provided [RCV000730802] Chr2:218814987 [GRCh38]
Chr2:219679710 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1029G>T (p.Thr343=) single nucleotide variant Cardiovascular phenotype [RCV002386300]|Cholestanol storage disease [RCV002535173]|not provided [RCV000730843] Chr2:218814032 [GRCh38]
Chr2:219678755 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_000784.4(CYP27A1):c.1371C>T (p.Thr457=) single nucleotide variant CYP27A1-related disorder [RCV004748936]|Cholestanol storage disease [RCV002067109]|not provided [RCV000730907] Chr2:218814652 [GRCh38]
Chr2:219679375 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_000784.4(CYP27A1):c.515C>T (p.Ala172Val) single nucleotide variant Cholestanol storage disease [RCV001423428]|not provided [RCV000595155] Chr2:218812290 [GRCh38]
Chr2:219677013 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_000784.4(CYP27A1):c.1477-2A>C single nucleotide variant Cardiovascular phenotype [RCV004022314]|Cholestanol storage disease [RCV001833525]|not provided [RCV000432466] Chr2:218814909 [GRCh38]
Chr2:219679632 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_000784.4(CYP27A1):c.847A>T (p.Lys283Ter) single nucleotide variant Cholestanol storage disease [RCV000416454] Chr2:218812926 [GRCh38]
Chr2:219677649 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q35(chr2:219275536-220266647)x3 copy number gain See cases [RCV000511655] Chr2:219275536..220266647 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_000784.4(CYP27A1):c.674G>A (p.Arg225His) single nucleotide variant Cholestanol storage disease [RCV000668792] Chr2:218812579 [GRCh38]
Chr2:219677302 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.215T>A (p.Leu72Gln) single nucleotide variant CYP27A1-related disorder [RCV003420097]|Cholestanol storage disease [RCV000633713]|not provided [RCV001579919] Chr2:218782397 [GRCh38]
Chr2:219647120 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.420C>T (p.His140=) single nucleotide variant CYP27A1-related disorder [RCV003900335]|Cardiovascular phenotype [RCV003302916]|Cholestanol storage disease [RCV001078847]|not provided [RCV000595739] Chr2:218809741 [GRCh38]
Chr2:219674464 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.443C>G (p.Thr148Ser) single nucleotide variant Cholestanol storage disease [RCV002532499]|not provided [RCV000596428] Chr2:218809764 [GRCh38]
Chr2:219674487 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met) single nucleotide variant Cholestanol storage disease [RCV000973770]|not specified [RCV000596615] Chr2:218809577 [GRCh38]
Chr2:219674300 [GRCh37]
Chr2:2q35		 benign|likely benign
Single allele duplication Cholestanol storage disease [RCV000595588] Chr2:219646916..219646925 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.1056A>C (p.Ser352=) single nucleotide variant Cardiovascular phenotype [RCV003288541] Chr2:218814059 [GRCh38]
Chr2:219678782 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.151C>G (p.Arg51Gly) single nucleotide variant Cardiovascular phenotype [RCV003301973] Chr2:218782333 [GRCh38]
Chr2:219647056 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs) deletion CYP27A1-related disorder [RCV004748833]|Cholestanol storage disease [RCV000595702]|not provided [RCV000598773] Chr2:218812569..218812581 [GRCh38]
Chr2:219677292..219677304 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_000784.4(CYP27A1):c.693A>T (p.Arg231=) single nucleotide variant Cardiovascular phenotype [RCV002368014]|Cholestanol storage disease [RCV001860187]|not provided [RCV000594622] Chr2:218812598 [GRCh38]
Chr2:219677321 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_000784.4(CYP27A1):c.1434C>T (p.Gly478=) single nucleotide variant CYP27A1-related disorder [RCV003900356]|Cardiovascular phenotype [RCV002395540]|Cholestanol storage disease [RCV001088579]|not provided [RCV000597026] Chr2:218814715 [GRCh38]
Chr2:219679438 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.1477-3C>T single nucleotide variant CYP27A1-related disorder [RCV003905608]|Cholestanol storage disease [RCV001860278]|not specified [RCV000610458] Chr2:218814908 [GRCh38]
Chr2:219679631 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_000784.4(CYP27A1):c.432T>C (p.Tyr144=) single nucleotide variant Cholestanol storage disease [RCV000625220]|not specified [RCV001700269] Chr2:218809753 [GRCh38]
Chr2:219674476 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_000784.4(CYP27A1):c.256-1G>T single nucleotide variant CYP27A1-related disorder [RCV004748891]|Cholestanol storage disease [RCV000668882]|not provided [RCV000728856] Chr2:218809576 [GRCh38]
Chr2:219674299 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_000784.4(CYP27A1):c.1589del (p.Gln530fs) deletion Cholestanol storage disease [RCV000672070] Chr2:218815023 [GRCh38]
Chr2:219679746 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.721_723dup (p.Val241dup) duplication Cholestanol storage disease [RCV000672837] Chr2:218812623..218812624 [GRCh38]
Chr2:219677346..219677347 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter) single nucleotide variant Cholestanol storage disease [RCV000670999] Chr2:218815007 [GRCh38]
Chr2:219679730 [GRCh37]
Chr2:2q35		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000784.4(CYP27A1):c.102C>T (p.Ala34=) single nucleotide variant Cholestanol storage disease [RCV002534303]|not provided [RCV000658901] Chr2:218782284 [GRCh38]
Chr2:219647007 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1017G>T (p.Thr339=) single nucleotide variant Cardiovascular phenotype [RCV004026130]|Cholestanol storage disease [RCV000673477] Chr2:218813096 [GRCh38]
Chr2:219677819 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1427del (p.Cys476fs) deletion Cholestanol storage disease [RCV000670416] Chr2:218814708 [GRCh38]
Chr2:219679431 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_000784.4(CYP27A1):c.1263+2T>C single nucleotide variant Cholestanol storage disease [RCV000671605] Chr2:218814460 [GRCh38]
Chr2:219679183 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys) single nucleotide variant CYP27A1-related disorder [RCV004748897]|Cholestanol storage disease [RCV000673959] Chr2:218814971 [GRCh38]
Chr2:219679694 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.539del (p.Glu180fs) deletion Cholestanol storage disease [RCV000665492] Chr2:218812314 [GRCh38]
Chr2:219677037 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_000784.4(CYP27A1):c.172GAG[1] (p.Glu59del) microsatellite Cardiovascular phenotype [RCV004026083]|Cholestanol storage disease [RCV000665508]|not provided [RCV003442010] Chr2:218782354..218782356 [GRCh38]
Chr2:219647077..219647079 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.201CTT[2] (p.Phe70del) microsatellite Cholestanol storage disease [RCV000665735]|not provided [RCV000997668] Chr2:218782383..218782385 [GRCh38]
Chr2:219647106..219647108 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1264-2A>G single nucleotide variant Cholestanol storage disease [RCV000666900] Chr2:218814543 [GRCh38]
Chr2:219679266 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter) single nucleotide variant Cholestanol storage disease [RCV000670341] Chr2:218814075 [GRCh38]
Chr2:219678798 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_000784.4(CYP27A1):c.1028C>G (p.Thr343Arg) single nucleotide variant Cholestanol storage disease [RCV000670463] Chr2:218814031 [GRCh38]
Chr2:219678754 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.845-2A>G single nucleotide variant Cholestanol storage disease [RCV000670919] Chr2:218812922 [GRCh38]
Chr2:219677645 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_000784.4(CYP27A1):c.646+2T>C single nucleotide variant CYP27A1-related disorder [RCV004723050]|Cholestanol storage disease [RCV000667543] Chr2:218812423 [GRCh38]
Chr2:219677146 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_000784.4(CYP27A1):c.1582C>T (p.Gln528Ter) single nucleotide variant Cholestanol storage disease [RCV000665520]|not provided [RCV004588089] Chr2:218815016 [GRCh38]
Chr2:219679739 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1588C>T (p.Gln530Ter) single nucleotide variant Cholestanol storage disease [RCV000665836] Chr2:218815022 [GRCh38]
Chr2:219679745 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1180_1181del (p.Leu394fs) microsatellite Cholestanol storage disease [RCV000674414] Chr2:218814181..218814182 [GRCh38]
Chr2:219678904..219678905 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_000784.4(CYP27A1):c.193C>T (p.Gln65Ter) single nucleotide variant Cholestanol storage disease [RCV000665890] Chr2:218782375 [GRCh38]
Chr2:219647098 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_000784.4(CYP27A1):c.1A>G (p.Met1Val) single nucleotide variant Cholestanol storage disease [RCV000664683] Chr2:218782183 [GRCh38]
Chr2:219646906 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr) single nucleotide variant Cholestanol storage disease [RCV000674249] Chr2:218812320 [GRCh38]
Chr2:219677043 [GRCh37]
Chr2:2q35		 conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.1514_1516del (p.Thr505_Gly506delinsArg) deletion Cholestanol storage disease [RCV000672462] Chr2:218814948..218814950 [GRCh38]
Chr2:219679671..219679673 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1591del (p.Cys531fs) deletion Cardiovascular phenotype [RCV004026106]|Cholestanol storage disease [RCV000669096] Chr2:218815025 [GRCh38]
Chr2:219679748 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.646+1G>C single nucleotide variant Cholestanol storage disease [RCV000673829] Chr2:218812422 [GRCh38]
Chr2:219677145 [GRCh37]
Chr2:2q35		 likely pathogenic
GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1 copy number loss not provided [RCV000682163] Chr2:218813434..227450699 [GRCh37]
Chr2:2q35-36.3		 pathogenic
NM_000784.4(CYP27A1):c.49_75del (p.Gly17_Ala25del) deletion Cholestanol storage disease [RCV000666726] Chr2:218782225..218782251 [GRCh38]
Chr2:219646948..219646974 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1185-2A>T single nucleotide variant Cholestanol storage disease [RCV000666864] Chr2:218814378 [GRCh38]
Chr2:219679101 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_000784.4(CYP27A1):c.506_507delinsA (p.Ala169fs) indel Cholestanol storage disease [RCV000698198] Chr2:218812281..218812282 [GRCh38]
Chr2:219677004..219677005 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.1029G>A (p.Thr343=) single nucleotide variant CYP27A1-related disorder [RCV004748912]|Cardiovascular phenotype [RCV002386283]|Cholestanol storage disease [RCV001451694]|not provided [RCV000712496] Chr2:218814032 [GRCh38]
Chr2:219678755 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.659T>A (p.Ile220Asn) single nucleotide variant Cholestanol storage disease [RCV000693448] Chr2:218812564 [GRCh38]
Chr2:219677287 [GRCh37]
Chr2:2q35		 uncertain significance
NC_000002.11:g.(?_219135239)_(220290732_?)del deletion Desmin-related myofibrillar myopathy [RCV000707774] Chr2:219135239..220290732 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met) single nucleotide variant Cardiovascular phenotype [RCV004609505]|Cholestanol storage disease [RCV001080409]|not provided [RCV000712501]|not specified [RCV001726319] Chr2:218812299 [GRCh38]
Chr2:219677022 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val) single nucleotide variant Cardiovascular phenotype [RCV003303205]|Cholestanol storage disease [RCV001082527]|not provided [RCV000712500]|not specified [RCV001726318] Chr2:218812281 [GRCh38]
Chr2:219677004 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_000784.4(CYP27A1):c.446+223A>G single nucleotide variant not provided [RCV001574447] Chr2:218809990 [GRCh38]
Chr2:219674713 [GRCh37]
Chr2:2q35		 likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_000784.4(CYP27A1):c.447-141T>G single nucleotide variant not provided [RCV001539800] Chr2:218812081 [GRCh38]
Chr2:219676804 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1477-10T>C single nucleotide variant Cholestanol storage disease [RCV000940727] Chr2:218814901 [GRCh38]
Chr2:219679624 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.666C>T (p.Phe222=) single nucleotide variant Cardiovascular phenotype [RCV002363498]|Cholestanol storage disease [RCV000978703] Chr2:218812571 [GRCh38]
Chr2:219677294 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity
NM_000784.4(CYP27A1):c.256-137_256-126del deletion not provided [RCV001584916] Chr2:218809440..218809451 [GRCh38]
Chr2:219674163..219674174 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1017+37G>C single nucleotide variant not provided [RCV001582242] Chr2:218813133 [GRCh38]
Chr2:219677856 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=) single nucleotide variant CYP27A1-related disorder [RCV003895636]|Cardiovascular phenotype [RCV002336923]|Cholestanol storage disease [RCV000926550]|not provided [RCV001576275] Chr2:218812279 [GRCh38]
Chr2:219677002 [GRCh37]
Chr2:2q35		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000784.4(CYP27A1):c.1125C>G (p.Pro375=) single nucleotide variant Cholestanol storage disease [RCV000929309] Chr2:218814128 [GRCh38]
Chr2:219678851 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1184+7C>G single nucleotide variant Cholestanol storage disease [RCV000975322] Chr2:218814194 [GRCh38]
Chr2:219678917 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1102G>T (p.Val368Leu) single nucleotide variant Cholestanol storage disease [RCV000967698]|not provided [RCV001698676] Chr2:218814105 [GRCh38]
Chr2:219678828 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_000784.4(CYP27A1):c.1104G>A (p.Val368=) single nucleotide variant Cardiovascular phenotype [RCV002454200]|Cholestanol storage disease [RCV000967699]|not provided [RCV001699489] Chr2:218814107 [GRCh38]
Chr2:219678830 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_000784.4(CYP27A1):c.1509G>A (p.Pro503=) single nucleotide variant CYP27A1-related disorder [RCV003950567]|Cardiovascular phenotype [RCV002390888]|Cholestanol storage disease [RCV000901063] Chr2:218814943 [GRCh38]
Chr2:219679666 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.159G>A (p.Arg53=) single nucleotide variant Cardiovascular phenotype [RCV002400032]|Cholestanol storage disease [RCV000926844] Chr2:218782341 [GRCh38]
Chr2:219647064 [GRCh37]
Chr2:2q35		 likely benign
GRCh37/hg19 2q35(chr2:218271898-219825640) copy number gain not provided [RCV000767784] Chr2:218271898..219825640 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs) microsatellite Cholestanol storage disease [RCV000779307] Chr2:218812357..218812358 [GRCh38]
Chr2:219677080..219677081 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.425T>C (p.Leu142Pro) single nucleotide variant Cholestanol storage disease [RCV000792745] Chr2:218809746 [GRCh38]
Chr2:219674469 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.398G>A (p.Trp133Ter) single nucleotide variant Cardiovascular phenotype [RCV002352292]|Cholestanol storage disease [RCV000778595] Chr2:218809719 [GRCh38]
Chr2:219674442 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_000784.4(CYP27A1):c.711C>T (p.Thr237=) single nucleotide variant Cardiovascular phenotype [RCV002363415]|Cholestanol storage disease [RCV000936660]|not provided [RCV001311987] Chr2:218812616 [GRCh38]
Chr2:219677339 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.756C>A (p.Leu252=) single nucleotide variant Cholestanol storage disease [RCV000979595] Chr2:218812661 [GRCh38]
Chr2:219677384 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.384C>T (p.Asn128=) single nucleotide variant CYP27A1-related disorder [RCV004749547]|Cardiovascular phenotype [RCV002354774]|Cholestanol storage disease [RCV000925618]|not provided [RCV004721679] Chr2:218809705 [GRCh38]
Chr2:219674428 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1488G>A (p.Lys496=) single nucleotide variant Cholestanol storage disease [RCV000977647] Chr2:218814922 [GRCh38]
Chr2:219679645 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1182G>A (p.Leu394=) single nucleotide variant Cholestanol storage disease [RCV000941656] Chr2:218814185 [GRCh38]
Chr2:219678908 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1500C>T (p.Val500=) single nucleotide variant Cardiovascular phenotype [RCV002390902]|Cholestanol storage disease [RCV000914264] Chr2:218814934 [GRCh38]
Chr2:219679657 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter) single nucleotide variant CYP27A1-related disorder [RCV003928633]|Cholestanol storage disease [RCV000987032] Chr2:218812337 [GRCh38]
Chr2:219677060 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.884C>T (p.Ala295Val) single nucleotide variant Cholestanol storage disease [RCV001869399]|not provided [RCV000997669] Chr2:218812963 [GRCh38]
Chr2:219677686 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.885C>T (p.Ala295=) single nucleotide variant Cholestanol storage disease [RCV001138167] Chr2:218812964 [GRCh38]
Chr2:219677687 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1369A>G (p.Thr457Ala) single nucleotide variant Cholestanol storage disease [RCV001138170]|not provided [RCV003227916] Chr2:218814650 [GRCh38]
Chr2:219679373 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1539C>T (p.Arg513=) single nucleotide variant Cholestanol storage disease [RCV001474267] Chr2:218814973 [GRCh38]
Chr2:219679696 [GRCh37]
Chr2:2q35		 likely benign
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
NM_000784.4(CYP27A1):c.1064del (p.Pro355fs) deletion Cholestanol storage disease [RCV000796394] Chr2:218814065 [GRCh38]
Chr2:219678788 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=) single nucleotide variant Cardiovascular phenotype [RCV002363435]|Cholestanol storage disease [RCV001087934]|not provided [RCV000939958] Chr2:218812607 [GRCh38]
Chr2:219677330 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3		 pathogenic
NM_000784.4(CYP27A1):c.1005del (p.Gly336fs) deletion CYP27A1-related disorder [RCV003413800]|Cholestanol storage disease [RCV001860601]|not provided [RCV001009202] Chr2:218813084 [GRCh38]
Chr2:219677807 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_000784.4(CYP27A1):c.1559A>C (p.Lys520Thr) single nucleotide variant Cardiovascular phenotype [RCV004032325]|Cholestanol storage disease [RCV001138600] Chr2:218814993 [GRCh38]
Chr2:219679716 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.309G>A (p.Gln103=) single nucleotide variant Cholestanol storage disease [RCV001138064] Chr2:218809630 [GRCh38]
Chr2:219674353 [GRCh37]
Chr2:2q35		 conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.33G>A (p.Trp11Ter) single nucleotide variant Cholestanol storage disease [RCV003769365]|not provided [RCV000997667] Chr2:218782215 [GRCh38]
Chr2:219646938 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_000784.4(CYP27A1):c.1181T>C (p.Leu394Pro) single nucleotide variant Cholestanol storage disease [RCV000987034]|not specified [RCV004587001] Chr2:218814184 [GRCh38]
Chr2:219678907 [GRCh37]
Chr2:2q35		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2q35(chr2:216883237-220953003)x3 copy number gain not provided [RCV001007510] Chr2:216883237..220953003 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.69_82del (p.His23fs) deletion Cholestanol storage disease [RCV001243335] Chr2:218782248..218782261 [GRCh38]
Chr2:219646971..219646984 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.1185-2A>G single nucleotide variant Cholestanol storage disease [RCV001234345] Chr2:218814378 [GRCh38]
Chr2:219679101 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.130C>T (p.Pro44Ser) single nucleotide variant Cardiovascular phenotype [RCV002379924]|Cholestanol storage disease [RCV001241295] Chr2:218782312 [GRCh38]
Chr2:219647035 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1048C>T (p.His350Tyr) single nucleotide variant Cholestanol storage disease [RCV003104720] Chr2:218814051 [GRCh38]
Chr2:219678774 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1215G>T (p.Arg405=) single nucleotide variant Cholestanol storage disease [RCV003104867] Chr2:218814410 [GRCh38]
Chr2:219679133 [GRCh37]
Chr2:2q35		 likely benign
NC_000002.11:g.(?_219679083)_(219679753_?)del deletion Cholestanol storage disease [RCV003105328] Chr2:219679083..219679753 [GRCh37]
Chr2:2q35		 likely pathogenic
NC_000002.12:g.218781575A>G single nucleotide variant not provided [RCV001569767] Chr2:218781575 [GRCh38]
Chr2:219646298 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.446+199G>T single nucleotide variant not provided [RCV001577702] Chr2:218809966 [GRCh38]
Chr2:219674689 [GRCh37]
Chr2:2q35		 likely benign
NC_000002.12:g.218781609G>T single nucleotide variant not provided [RCV001571563] Chr2:218781609 [GRCh38]
Chr2:219646332 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.256-139T>C single nucleotide variant not provided [RCV001710885] Chr2:218809438 [GRCh38]
Chr2:219674161 [GRCh37]
Chr2:2q35		 benign
NC_000002.12:g.218781453C>T single nucleotide variant not provided [RCV001566489] Chr2:218781453 [GRCh38]
Chr2:219646176 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.255+87G>A single nucleotide variant not provided [RCV001552941] Chr2:218782524 [GRCh38]
Chr2:219647247 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.735G>T (p.Gly245=) single nucleotide variant Cardiovascular phenotype [RCV002382061]|Cholestanol storage disease [RCV000907222] Chr2:218812640 [GRCh38]
Chr2:219677363 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.972G>A (p.Glu324=) single nucleotide variant Cardiovascular phenotype [RCV002382152]|Cholestanol storage disease [RCV001413587] Chr2:218813051 [GRCh38]
Chr2:219677774 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1113C>T (p.Ala371=) single nucleotide variant Cardiovascular phenotype [RCV002434284]|Cholestanol storage disease [RCV001501435] Chr2:218814116 [GRCh38]
Chr2:219678839 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1413T>C (p.Tyr471=) single nucleotide variant CYP27A1-related disorder [RCV004749531]|Cardiovascular phenotype [RCV002390894]|Cholestanol storage disease [RCV000908524] Chr2:218814694 [GRCh38]
Chr2:219679417 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.594G>A (p.Ser198=) single nucleotide variant CYP27A1-related disorder [RCV003923250]|Cardiovascular phenotype [RCV002354753]|Cholestanol storage disease [RCV000917674]|not provided [RCV001729746] Chr2:218812369 [GRCh38]
Chr2:219677092 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.720C>T (p.Phe240=) single nucleotide variant Cholestanol storage disease [RCV001405537] Chr2:218812625 [GRCh38]
Chr2:219677348 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.344A>G (p.Glu115Gly) single nucleotide variant Cholestanol storage disease [RCV001138488] Chr2:218809665 [GRCh38]
Chr2:219674388 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.*209G>A single nucleotide variant Cholestanol storage disease [RCV001138601] Chr2:218815239 [GRCh38]
Chr2:219679962 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.518T>C (p.Leu173Pro) single nucleotide variant Cardiovascular phenotype [RCV004609659]|Cholestanol storage disease [RCV001209045] Chr2:218812293 [GRCh38]
Chr2:219677016 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1459C>T (p.Gln487Ter) single nucleotide variant Cholestanol storage disease [RCV001202900] Chr2:218814740 [GRCh38]
Chr2:219679463 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_000784.4(CYP27A1):c.1075G>C (p.Glu359Gln) single nucleotide variant Cholestanol storage disease [RCV003502583]|not provided [RCV000997670] Chr2:218814078 [GRCh38]
Chr2:219678801 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1515G>A (p.Thr505=) single nucleotide variant Cholestanol storage disease [RCV000934174] Chr2:218814949 [GRCh38]
Chr2:219679672 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1568_*118del (p.Gly523_Ter532delinsXaa) deletion Cholestanol storage disease [RCV003011631] Chr2:218815000..218815146 [GRCh38]
Chr2:219679723..219679869 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.256-142C>T single nucleotide variant not provided [RCV001562461] Chr2:218809435 [GRCh38]
Chr2:219674158 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1052T>G (p.Leu351Arg) single nucleotide variant Cholestanol storage disease [RCV000987033] Chr2:218814055 [GRCh38]
Chr2:219678778 [GRCh37]
Chr2:2q35		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000784.4(CYP27A1):c.1476+72G>A single nucleotide variant not provided [RCV001568835] Chr2:218814829 [GRCh38]
Chr2:219679552 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.379C>G (p.Arg127Gly) single nucleotide variant Cholestanol storage disease [RCV002465059] Chr2:218809700 [GRCh38]
Chr2:219674423 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_000784.4(CYP27A1):c.437C>T (p.Pro146Leu) single nucleotide variant Cholestanol storage disease [RCV002470560] Chr2:218809758 [GRCh38]
Chr2:219674481 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.256-150A>C single nucleotide variant not provided [RCV001608723] Chr2:218809427 [GRCh38]
Chr2:219674150 [GRCh37]
Chr2:2q35		 benign
NM_000784.4(CYP27A1):c.1184+55A>C single nucleotide variant not provided [RCV001657616] Chr2:218814242 [GRCh38]
Chr2:219678965 [GRCh37]
Chr2:2q35		 benign
NC_000002.12:g.218781406T>C single nucleotide variant not provided [RCV001594045] Chr2:218781406 [GRCh38]
Chr2:219646129 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1018-186C>T single nucleotide variant not provided [RCV001596450] Chr2:218813835 [GRCh38]
Chr2:219678558 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.256-137C>T single nucleotide variant not provided [RCV001686455] Chr2:218809440 [GRCh38]
Chr2:219674163 [GRCh37]
Chr2:2q35		 benign
NM_000784.4(CYP27A1):c.256-125_256-124insAC insertion not provided [RCV001596561] Chr2:218809452..218809453 [GRCh38]
Chr2:219674175..219674176 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.473dup (p.Gln159fs) duplication Cholestanol storage disease [RCV003466099] Chr2:218812247..218812248 [GRCh38]
Chr2:219676970..219676971 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_000784.4(CYP27A1):c.608_614del (p.Ser203fs) deletion Cholestanol storage disease [RCV003466100] Chr2:218812382..218812388 [GRCh38]
Chr2:219677105..219677111 [GRCh37]
Chr2:2q35		 likely pathogenic
NC_000002.12:g.(?_218809567)_(218809777_?)del deletion Cholestanol storage disease [RCV001032798] Chr2:219674290..219674500 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.525G>A (p.Thr175=) single nucleotide variant Cardiovascular phenotype [RCV002339414]|Cholestanol storage disease [RCV001141052] Chr2:218812300 [GRCh38]
Chr2:219677023 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.256-138G>A single nucleotide variant not provided [RCV001693933] Chr2:218809439 [GRCh38]
Chr2:219674162 [GRCh37]
Chr2:2q35		 benign
NM_000784.4(CYP27A1):c.322C>T (p.Leu108=) single nucleotide variant CYP27A1-related disorder [RCV003918723]|Cardiovascular phenotype [RCV004609635]|Cholestanol storage disease [RCV001138487] Chr2:218809643 [GRCh38]
Chr2:219674366 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.368A>C (p.Lys123Thr) single nucleotide variant Cholestanol storage disease [RCV001138489] Chr2:218809689 [GRCh38]
Chr2:219674412 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1017+5G>C single nucleotide variant Cholestanol storage disease [RCV001832736]|not provided [RCV001541053] Chr2:218813101 [GRCh38]
Chr2:219677824 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.447-192C>T single nucleotide variant not provided [RCV001589586] Chr2:218812030 [GRCh38]
Chr2:219676753 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.701C>T (p.Pro234Leu) single nucleotide variant Cholestanol storage disease [RCV001035420]|not provided [RCV003480908] Chr2:218812606 [GRCh38]
Chr2:219677329 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.256-138_256-137insTA insertion not provided [RCV001583303] Chr2:218809439..218809440 [GRCh38]
Chr2:219674162..219674163 [GRCh37]
Chr2:2q35		 likely benign
NC_000002.12:g.218781638del deletion not provided [RCV001696467] Chr2:218781628 [GRCh38]
Chr2:219646351 [GRCh37]
Chr2:2q35		 benign
NM_000784.4(CYP27A1):c.255+193A>C single nucleotide variant not provided [RCV001590056] Chr2:218782630 [GRCh38]
Chr2:219647353 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1018-251C>T single nucleotide variant not provided [RCV001545938] Chr2:218813770 [GRCh38]
Chr2:219678493 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.256-136C>A single nucleotide variant not provided [RCV001645291] Chr2:218809441 [GRCh38]
Chr2:219674164 [GRCh37]
Chr2:2q35		 benign
NM_000784.4(CYP27A1):c.256-140_256-139insCG insertion not provided [RCV001707064] Chr2:218809437..218809438 [GRCh38]
Chr2:219674160..219674161 [GRCh37]
Chr2:2q35		 benign
NM_000784.4(CYP27A1):c.256-296G>T single nucleotide variant not provided [RCV001683976] Chr2:218809281 [GRCh38]
Chr2:219674004 [GRCh37]
Chr2:2q35		 benign
NM_000784.4(CYP27A1):c.255+295A>G single nucleotide variant not provided [RCV001679530] Chr2:218782732 [GRCh38]
Chr2:219647455 [GRCh37]
Chr2:2q35		 benign
NM_000784.4(CYP27A1):c.255+327G>A single nucleotide variant not provided [RCV001682487] Chr2:218782764 [GRCh38]
Chr2:219647487 [GRCh37]
Chr2:2q35		 benign
NM_000784.4(CYP27A1):c.1017+1G>A single nucleotide variant Cholestanol storage disease [RCV001233210] Chr2:218813097 [GRCh38]
Chr2:219677820 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met) single nucleotide variant Cardiovascular phenotype [RCV004030534]|Cholestanol storage disease [RCV001064382]|not provided [RCV001701282] Chr2:218814948 [GRCh38]
Chr2:219679671 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_000784.4(CYP27A1):c.67dup (p.His23fs) duplication Cholestanol storage disease [RCV001203126]|not provided [RCV001008477] Chr2:218782244..218782245 [GRCh38]
Chr2:219646967..219646968 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_000784.4(CYP27A1):c.900del (p.Pro302fs) deletion not provided [RCV001200641] Chr2:218812979 [GRCh38]
Chr2:219677702 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_000784.4(CYP27A1):c.507G>A (p.Ala169=) single nucleotide variant Cardiovascular phenotype [RCV002339413]|Cholestanol storage disease [RCV001141051] Chr2:218812282 [GRCh38]
Chr2:219677005 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000784.4(CYP27A1):c.24dup (p.Leu9fs) duplication Cholestanol storage disease [RCV001246808] Chr2:218782204..218782205 [GRCh38]
Chr2:219646927..219646928 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.676A>G (p.Ile226Val) single nucleotide variant Cardiovascular phenotype [RCV004608437] Chr2:218812581 [GRCh38]
Chr2:219677304 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.698T>C (p.Ile233Thr) single nucleotide variant Cardiovascular phenotype [RCV004608440] Chr2:218812603 [GRCh38]
Chr2:219677326 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.763A>G (p.Thr255Ala) single nucleotide variant Cardiovascular phenotype [RCV004608445] Chr2:218812668 [GRCh38]
Chr2:219677391 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.263A>G (p.Tyr88Cys) single nucleotide variant Cardiovascular phenotype [RCV004608441] Chr2:218809584 [GRCh38]
Chr2:219674307 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.871G>T (p.Glu291Ter) single nucleotide variant Cardiovascular phenotype [RCV004608446] Chr2:218812950 [GRCh38]
Chr2:219677673 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.256-136C>T single nucleotide variant not provided [RCV001663186] Chr2:218809441 [GRCh38]
Chr2:219674164 [GRCh37]
Chr2:2q35		 benign
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_000784.4(CYP27A1):c.803G>A (p.Trp268Ter) single nucleotide variant Cholestanol storage disease [RCV001264212] Chr2:218812708 [GRCh38]
Chr2:219677431 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_000784.4(CYP27A1):c.264C>A (p.Tyr88Ter) single nucleotide variant Cholestanol storage disease [RCV001264088] Chr2:218809585 [GRCh38]
Chr2:219674308 [GRCh37]
Chr2:2q35		 likely pathogenic
GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1 copy number loss not provided [RCV001259180] Chr2:215122019..220397907 [GRCh37]
Chr2:2q34-35		 likely pathogenic
NM_000784.4(CYP27A1):c.287G>A (p.Trp96Ter) single nucleotide variant Cholestanol storage disease [RCV001264207] Chr2:218809608 [GRCh38]
Chr2:219674331 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_000784.4(CYP27A1):c.307C>T (p.Gln103Ter) single nucleotide variant Cholestanol storage disease [RCV001264208] Chr2:218809628 [GRCh38]
Chr2:219674351 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_000784.4(CYP27A1):c.657C>A (p.Tyr219Ter) single nucleotide variant Cholestanol storage disease [RCV001264211] Chr2:218812562 [GRCh38]
Chr2:219677285 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_000784.4(CYP27A1):c.955C>T (p.Gln319Ter) single nucleotide variant Cholestanol storage disease [RCV001264213] Chr2:218813034 [GRCh38]
Chr2:219677757 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_000784.4(CYP27A1):c.358C>T (p.Gln120Ter) single nucleotide variant Cholestanol storage disease [RCV001264209] Chr2:218809679 [GRCh38]
Chr2:219674402 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_000784.4(CYP27A1):c.608C>A (p.Ser203Ter) single nucleotide variant Cholestanol storage disease [RCV001264210] Chr2:218812383 [GRCh38]
Chr2:219677106 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_000784.4(CYP27A1):c.515C>A (p.Ala172Glu) single nucleotide variant Cholestanol storage disease [RCV001277355]|not specified [RCV004587097] Chr2:218812290 [GRCh38]
Chr2:219677013 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
NM_000784.4(CYP27A1):c.614T>C (p.Met205Thr) single nucleotide variant Cholestanol storage disease [RCV001329402] Chr2:218812389 [GRCh38]
Chr2:219677112 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.753_754del (p.Tyr253fs) deletion Cholestanol storage disease [RCV001970073] Chr2:218812657..218812658 [GRCh38]
Chr2:219677380..219677381 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.1309G>T (p.Ala437Ser) single nucleotide variant Cholestanol storage disease [RCV001342797] Chr2:218814590 [GRCh38]
Chr2:219679313 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1059G>T (p.Lys353Asn) single nucleotide variant Cardiovascular phenotype [RCV002402824]|Cholestanol storage disease [RCV001296748] Chr2:218814062 [GRCh38]
Chr2:219678785 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1595G>A (p.Ter532=) single nucleotide variant Cardiovascular phenotype [RCV003169576]|Cholestanol storage disease [RCV001336987] Chr2:218815029 [GRCh38]
Chr2:219679752 [GRCh37]
Chr2:2q35		 pathogenic|likely benign|conflicting interpretations of pathogenicity
NM_000784.4(CYP27A1):c.450A>G (p.Glu150=) single nucleotide variant CYP27A1-related disorder [RCV003946106]|Cholestanol storage disease [RCV001422937] Chr2:218812225 [GRCh38]
Chr2:219676948 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1152G>A (p.Pro384=) single nucleotide variant Cardiovascular phenotype [RCV002350736]|Cholestanol storage disease [RCV001391795] Chr2:218814155 [GRCh38]
Chr2:219678878 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.564A>T (p.Arg188=) single nucleotide variant Cholestanol storage disease [RCV001415183] Chr2:218812339 [GRCh38]
Chr2:219677062 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1557T>C (p.Asn519=) single nucleotide variant Cholestanol storage disease [RCV001433735] Chr2:218814991 [GRCh38]
Chr2:219679714 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.66C>G (p.Pro22=) single nucleotide variant Cholestanol storage disease [RCV001433462] Chr2:218782248 [GRCh38]
Chr2:219646971 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1184+3A>G single nucleotide variant Cholestanol storage disease [RCV001300017] Chr2:218814190 [GRCh38]
Chr2:219678913 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1121T>A (p.Val374Glu) single nucleotide variant Cholestanol storage disease [RCV001319206] Chr2:218814124 [GRCh38]
Chr2:219678847 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.608C>T (p.Ser203Leu) single nucleotide variant Cholestanol storage disease [RCV001421215] Chr2:218812383 [GRCh38]
Chr2:219677106 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1074G>A (p.Gln358=) single nucleotide variant Cholestanol storage disease [RCV001413377] Chr2:218814077 [GRCh38]
Chr2:219678800 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1195G>T (p.Val399Leu) single nucleotide variant Cholestanol storage disease [RCV001299383] Chr2:218814390 [GRCh38]
Chr2:219679113 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.258G>A (p.Val86=) single nucleotide variant Cholestanol storage disease [RCV001414205] Chr2:218809579 [GRCh38]
Chr2:219674302 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1116G>C (p.Gly372=) single nucleotide variant Cholestanol storage disease [RCV001394930] Chr2:218814119 [GRCh38]
Chr2:219678842 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.593C>T (p.Ser198Leu) single nucleotide variant Cardiovascular phenotype [RCV002359106]|Cholestanol storage disease [RCV001494848] Chr2:218812368 [GRCh38]
Chr2:219677091 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_000784.4(CYP27A1):c.447-4G>T single nucleotide variant Cholestanol storage disease [RCV001413849] Chr2:218812218 [GRCh38]
Chr2:219676941 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.870C>T (p.Leu290=) single nucleotide variant Cardiovascular phenotype [RCV002377594]|Cholestanol storage disease [RCV001395430]|not provided [RCV001796476]|not specified [RCV001796477] Chr2:218812949 [GRCh38]
Chr2:219677672 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_000784.4(CYP27A1):c.540G>A (p.Glu180=) single nucleotide variant Cholestanol storage disease [RCV001506842] Chr2:218812315 [GRCh38]
Chr2:219677038 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.861T>C (p.Asp287=) single nucleotide variant Cholestanol storage disease [RCV001494934] Chr2:218812940 [GRCh38]
Chr2:219677663 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1410C>T (p.Gly470=) single nucleotide variant Cholestanol storage disease [RCV001495903] Chr2:218814691 [GRCh38]
Chr2:219679414 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.446+10G>A single nucleotide variant Cholestanol storage disease [RCV001492402] Chr2:218809777 [GRCh38]
Chr2:219674500 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.48C>G (p.Ala16=) single nucleotide variant Cholestanol storage disease [RCV001496095] Chr2:218782230 [GRCh38]
Chr2:219646953 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1467C>T (p.Leu489=) single nucleotide variant Cholestanol storage disease [RCV001399275] Chr2:218814748 [GRCh38]
Chr2:219679471 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1254C>T (p.Phe418=) single nucleotide variant Cardiovascular phenotype [RCV004037247]|Cholestanol storage disease [RCV001484978] Chr2:218814449 [GRCh38]
Chr2:219679172 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.446+15G>A single nucleotide variant Cholestanol storage disease [RCV001474230] Chr2:218809782 [GRCh38]
Chr2:219674505 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1185-4G>A single nucleotide variant Cholestanol storage disease [RCV001462777] Chr2:218814376 [GRCh38]
Chr2:219679099 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.765C>G (p.Thr255=) single nucleotide variant Cholestanol storage disease [RCV001439633] Chr2:218812670 [GRCh38]
Chr2:219677393 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1185-4G>T single nucleotide variant Cholestanol storage disease [RCV001426386] Chr2:218814376 [GRCh38]
Chr2:219679099 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.654C>T (p.Cys218=) single nucleotide variant Cholestanol storage disease [RCV001423574]|not provided [RCV001701159] Chr2:218812559 [GRCh38]
Chr2:219677282 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.456C>T (p.His152=) single nucleotide variant Cholestanol storage disease [RCV001440089] Chr2:218812231 [GRCh38]
Chr2:219676954 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1188C>T (p.Leu396=) single nucleotide variant Cholestanol storage disease [RCV001423677] Chr2:218814383 [GRCh38]
Chr2:219679106 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1264-6T>C single nucleotide variant Cholestanol storage disease [RCV001398231] Chr2:218814539 [GRCh38]
Chr2:219679262 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1524G>A (p.Leu508=) single nucleotide variant Cholestanol storage disease [RCV001477484] Chr2:218814958 [GRCh38]
Chr2:219679681 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1593C>T (p.Cys531=) single nucleotide variant Cholestanol storage disease [RCV001453084] Chr2:218815027 [GRCh38]
Chr2:219679750 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.345G>A (p.Glu115=) single nucleotide variant Cholestanol storage disease [RCV001463975] Chr2:218809666 [GRCh38]
Chr2:219674389 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1089G>A (p.Glu363=) single nucleotide variant Cardiovascular phenotype [RCV002449328]|Cholestanol storage disease [RCV001501469] Chr2:218814092 [GRCh38]
Chr2:219678815 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.453A>G (p.Gly151=) single nucleotide variant Cholestanol storage disease [RCV001438383] Chr2:218812228 [GRCh38]
Chr2:219676951 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.606G>T (p.Val202=) single nucleotide variant Cardiovascular phenotype [RCV002358986]|Cholestanol storage disease [RCV001441003] Chr2:218812381 [GRCh38]
Chr2:219677104 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1425C>A (p.Ala475=) single nucleotide variant Cardiovascular phenotype [RCV002396042]|Cholestanol storage disease [RCV001448863] Chr2:218814706 [GRCh38]
Chr2:219679429 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1497G>T (p.Val499=) single nucleotide variant Cholestanol storage disease [RCV001437386] Chr2:218814931 [GRCh38]
Chr2:219679654 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1221A>T (p.Ile407=) single nucleotide variant Cholestanol storage disease [RCV001402518] Chr2:218814416 [GRCh38]
Chr2:219679139 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1476+2T>C single nucleotide variant Cholestanol storage disease [RCV003470853]|not provided [RCV001531954] Chr2:218814759 [GRCh38]
Chr2:219679482 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.214C>T (p.Leu72=) single nucleotide variant Cardiovascular phenotype [RCV004038252]|Cholestanol storage disease [RCV001427978] Chr2:218782396 [GRCh38]
Chr2:219647119 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.735G>A (p.Gly245=) single nucleotide variant Cholestanol storage disease [RCV001432932] Chr2:218812640 [GRCh38]
Chr2:219677363 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.256-8C>A single nucleotide variant Cholestanol storage disease [RCV001428988] Chr2:218809569 [GRCh38]
Chr2:219674292 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.447-7C>T single nucleotide variant Cholestanol storage disease [RCV001425856] Chr2:218812215 [GRCh38]
Chr2:219676938 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.501G>A (p.Lys167=) single nucleotide variant CYP27A1-related disorder [RCV003900443]|Cardiovascular phenotype [RCV003298705]|Cholestanol storage disease [RCV001418960] Chr2:218812276 [GRCh38]
Chr2:219676999 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.36G>T (p.Ala12=) single nucleotide variant CYP27A1-related disorder [RCV003920913]|Cardiovascular phenotype [RCV002350813]|Cholestanol storage disease [RCV001419092] Chr2:218782218 [GRCh38]
Chr2:219646941 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.870C>G (p.Leu290=) single nucleotide variant Cholestanol storage disease [RCV001392943] Chr2:218812949 [GRCh38]
Chr2:219677672 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1477-5C>T single nucleotide variant Cholestanol storage disease [RCV001405802] Chr2:218814906 [GRCh38]
Chr2:219679629 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.681C>T (p.Gly227=) single nucleotide variant Cholestanol storage disease [RCV001410683] Chr2:218812586 [GRCh38]
Chr2:219677309 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1477-8C>T single nucleotide variant Cholestanol storage disease [RCV001401103] Chr2:218814903 [GRCh38]
Chr2:219679626 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1434_1435delinsAA (p.Arg479Ser) indel Cholestanol storage disease [RCV001381385] Chr2:218814715..218814716 [GRCh38]
Chr2:219679438..219679439 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.46dup (p.Ala16fs) duplication Cholestanol storage disease [RCV001390450] Chr2:218782224..218782225 [GRCh38]
Chr2:219646947..219646948 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.1356C>T (p.Asn452=) single nucleotide variant Cholestanol storage disease [RCV001410722] Chr2:218814637 [GRCh38]
Chr2:219679360 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1456A>T (p.Met486Leu) single nucleotide variant Cardiovascular phenotype [RCV002395995]|Cholestanol storage disease [RCV001434529]|not provided [RCV003151857] Chr2:218814737 [GRCh38]
Chr2:219679460 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_000784.4(CYP27A1):c.630C>T (p.Tyr210=) single nucleotide variant Cholestanol storage disease [RCV001408552] Chr2:218812405 [GRCh38]
Chr2:219677128 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.66C>T (p.Pro22=) single nucleotide variant Cholestanol storage disease [RCV001445486] Chr2:218782248 [GRCh38]
Chr2:219646971 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.303G>T (p.Gly101=) single nucleotide variant Cholestanol storage disease [RCV001408956] Chr2:218809624 [GRCh38]
Chr2:219674347 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.123C>T (p.Thr41=) single nucleotide variant Cholestanol storage disease [RCV001409193] Chr2:218782305 [GRCh38]
Chr2:219647028 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.845-6T>C single nucleotide variant Cholestanol storage disease [RCV001411585] Chr2:218812918 [GRCh38]
Chr2:219677641 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.446+8G>A single nucleotide variant Cholestanol storage disease [RCV001479343] Chr2:218809775 [GRCh38]
Chr2:219674498 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.255+9C>T single nucleotide variant Cholestanol storage disease [RCV001486359] Chr2:218782446 [GRCh38]
Chr2:219647169 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.525G>T (p.Thr175=) single nucleotide variant Cholestanol storage disease [RCV001499440] Chr2:218812300 [GRCh38]
Chr2:219677023 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1470C>T (p.Leu490=) single nucleotide variant Cardiovascular phenotype [RCV002396111]|Cholestanol storage disease [RCV001469404] Chr2:218814751 [GRCh38]
Chr2:219679474 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.657C>T (p.Tyr219=) single nucleotide variant Cholestanol storage disease [RCV001479751] Chr2:218812562 [GRCh38]
Chr2:219677285 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.150C>T (p.Val50=) single nucleotide variant Cholestanol storage disease [RCV001477036] Chr2:218782332 [GRCh38]
Chr2:219647055 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.732C>T (p.Ile244=) single nucleotide variant Cardiovascular phenotype [RCV003375320]|Cholestanol storage disease [RCV001484338] Chr2:218812637 [GRCh38]
Chr2:219677360 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.784C>T (p.Arg262Cys) single nucleotide variant CYP27A1-related disorder [RCV003394217]|Cardiovascular phenotype [RCV004039951]|Cholestanol storage disease [RCV001866266]|not provided [RCV001699978] Chr2:218812689 [GRCh38]
Chr2:219677412 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.394C>T (p.Leu132=) single nucleotide variant Cholestanol storage disease [RCV001471719] Chr2:218809715 [GRCh38]
Chr2:219674438 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.606G>A (p.Val202=) single nucleotide variant Cholestanol storage disease [RCV001478812] Chr2:218812381 [GRCh38]
Chr2:219677104 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.660C>T (p.Ile220=) single nucleotide variant Cholestanol storage disease [RCV001490259] Chr2:218812565 [GRCh38]
Chr2:219677288 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.506C>A (p.Ala169Glu) single nucleotide variant Cholestanol storage disease [RCV001428807] Chr2:218812281 [GRCh38]
Chr2:219677004 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.327C>G (p.Ala109=) single nucleotide variant Cholestanol storage disease [RCV001482008] Chr2:218809648 [GRCh38]
Chr2:219674371 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.63C>T (p.Cys21=) single nucleotide variant Cholestanol storage disease [RCV001470865] Chr2:218782245 [GRCh38]
Chr2:219646968 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.273G>A (p.Lys91=) single nucleotide variant Cholestanol storage disease [RCV001459646] Chr2:218809594 [GRCh38]
Chr2:219674317 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.93C>T (p.Ile31=) single nucleotide variant Cardiovascular phenotype [RCV002377810]|Cholestanol storage disease [RCV001474296] Chr2:218782275 [GRCh38]
Chr2:219646998 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1323T>C (p.Pro441=) single nucleotide variant Cholestanol storage disease [RCV001498231] Chr2:218814604 [GRCh38]
Chr2:219679327 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1332C>T (p.Phe444=) single nucleotide variant Cholestanol storage disease [RCV001397745] Chr2:218814613 [GRCh38]
Chr2:219679336 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.646+9G>C single nucleotide variant Cholestanol storage disease [RCV001425458] Chr2:218812430 [GRCh38]
Chr2:219677153 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.813C>G (p.Tyr271Ter) single nucleotide variant Cholestanol storage disease [RCV001383667] Chr2:218812718 [GRCh38]
Chr2:219677441 [GRCh37]
Chr2:2q35		 pathogenic
NC_000002.11:g.(?_219679093)_(219679763_?)del deletion Cholestanol storage disease [RCV001376898] Chr2:219679093..219679763 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_000784.4(CYP27A1):c.1348C>T (p.Leu450=) single nucleotide variant Cardiovascular phenotype [RCV004037815]|Cholestanol storage disease [RCV001400360] Chr2:218814629 [GRCh38]
Chr2:219679352 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.684C>T (p.Cys228=) single nucleotide variant Cholestanol storage disease [RCV001425810] Chr2:218812589 [GRCh38]
Chr2:219677312 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1264-8C>T single nucleotide variant Cholestanol storage disease [RCV001393450] Chr2:218814537 [GRCh38]
Chr2:219679260 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1086C>T (p.His362=) single nucleotide variant Cardiovascular phenotype [RCV002420885]|Cholestanol storage disease [RCV001398032] Chr2:218814089 [GRCh38]
Chr2:219678812 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1590G>A (p.Gln530=) single nucleotide variant Cholestanol storage disease [RCV001417734] Chr2:218815024 [GRCh38]
Chr2:219679747 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.393G>A (p.Glu131=) single nucleotide variant Cholestanol storage disease [RCV001440919] Chr2:218809714 [GRCh38]
Chr2:219674437 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.903G>C (p.Gly301=) single nucleotide variant Cholestanol storage disease [RCV001489110] Chr2:218812982 [GRCh38]
Chr2:219677705 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.563G>C (p.Arg188Pro) single nucleotide variant not specified [RCV002247126] Chr2:218812338 [GRCh38]
Chr2:219677061 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.968G>A (p.Arg323Gln) single nucleotide variant Cholestanol storage disease [RCV002032708]|not provided [RCV001730347] Chr2:218813047 [GRCh38]
Chr2:219677770 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_000784.4(CYP27A1):c.706G>A (p.Asp236Asn) single nucleotide variant Cholestanol storage disease [RCV001871321] Chr2:218812611 [GRCh38]
Chr2:219677334 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.595G>A (p.Gly199Arg) single nucleotide variant Cholestanol storage disease [RCV001987916] Chr2:218812370 [GRCh38]
Chr2:219677093 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.233C>G (p.Ala78Gly) single nucleotide variant Cholestanol storage disease [RCV001874844] Chr2:218782415 [GRCh38]
Chr2:219647138 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.804G>T (p.Trp268Cys) single nucleotide variant Cholestanol storage disease [RCV002025260] Chr2:218812709 [GRCh38]
Chr2:219677432 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_000784.4(CYP27A1):c.767T>G (p.Phe256Cys) single nucleotide variant Cholestanol storage disease [RCV001864470] Chr2:218812672 [GRCh38]
Chr2:219677395 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1477-7C>A single nucleotide variant Cholestanol storage disease [RCV002022082] Chr2:218814904 [GRCh38]
Chr2:219679627 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_000784.4(CYP27A1):c.538G>A (p.Glu180Lys) single nucleotide variant Cholestanol storage disease [RCV001970559] Chr2:218812313 [GRCh38]
Chr2:219677036 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.878T>C (p.Met293Thr) single nucleotide variant Cholestanol storage disease [RCV002045709] Chr2:218812957 [GRCh38]
Chr2:219677680 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.199C>T (p.Arg67Cys) single nucleotide variant Cholestanol storage disease [RCV001985122] Chr2:218782381 [GRCh38]
Chr2:219647104 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1591T>G (p.Cys531Gly) single nucleotide variant Cholestanol storage disease [RCV002044067] Chr2:218815025 [GRCh38]
Chr2:219679748 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1427G>A (p.Cys476Tyr) single nucleotide variant Cholestanol storage disease [RCV001895236] Chr2:218814708 [GRCh38]
Chr2:219679431 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.335C>T (p.Pro112Leu) single nucleotide variant Cholestanol storage disease [RCV001890165] Chr2:218809656 [GRCh38]
Chr2:219674379 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1336C>G (p.Pro446Ala) single nucleotide variant Cholestanol storage disease [RCV001894511] Chr2:218814617 [GRCh38]
Chr2:219679340 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.923C>T (p.Ser308Phe) single nucleotide variant Cholestanol storage disease [RCV001949975] Chr2:218813002 [GRCh38]
Chr2:219677725 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.259C>T (p.Leu87Phe) single nucleotide variant Cholestanol storage disease [RCV002008128] Chr2:218809580 [GRCh38]
Chr2:219674303 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1263C>T (p.Asn421=) single nucleotide variant Cholestanol storage disease [RCV001986683] Chr2:218814458 [GRCh38]
Chr2:219679181 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.643G>T (p.Glu215Ter) single nucleotide variant Cholestanol storage disease [RCV001949995] Chr2:218812418 [GRCh38]
Chr2:219677141 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.247C>G (p.Gln83Glu) single nucleotide variant Cholestanol storage disease [RCV001947595]|not provided [RCV004762235] Chr2:218782429 [GRCh38]
Chr2:219647152 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.104T>C (p.Leu35Pro) single nucleotide variant Cholestanol storage disease [RCV002003865] Chr2:218782286 [GRCh38]
Chr2:219647009 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1538G>T (p.Arg513Leu) single nucleotide variant CYP27A1-related disorder [RCV003892928]|Cholestanol storage disease [RCV001908664]|not specified [RCV004690161] Chr2:218814972 [GRCh38]
Chr2:219679695 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1114G>T (p.Gly372Trp) single nucleotide variant Cholestanol storage disease [RCV001969089] Chr2:218814117 [GRCh38]
Chr2:219678840 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.68A>C (p.His23Pro) single nucleotide variant Cholestanol storage disease [RCV001965377] Chr2:218782250 [GRCh38]
Chr2:219646973 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.447-10G>A single nucleotide variant Cholestanol storage disease [RCV001945215] Chr2:218812212 [GRCh38]
Chr2:219676935 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_000784.4(CYP27A1):c.1185-3C>A single nucleotide variant Cholestanol storage disease [RCV001911760] Chr2:218814377 [GRCh38]
Chr2:219679100 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.373C>G (p.Pro125Ala) single nucleotide variant Cardiovascular phenotype [RCV002343901]|Cholestanol storage disease [RCV001872107] Chr2:218809694 [GRCh38]
Chr2:219674417 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1538_1539delinsTT (p.Arg513Leu) indel Cholestanol storage disease [RCV001966653] Chr2:218814972..218814973 [GRCh38]
Chr2:219679695..219679696 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1017+4C>T single nucleotide variant Cholestanol storage disease [RCV001968044] Chr2:218813100 [GRCh38]
Chr2:219677823 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1191C>A (p.Tyr397Ter) single nucleotide variant Cholestanol storage disease [RCV001908625] Chr2:218814386 [GRCh38]
Chr2:219679109 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.53G>T (p.Arg18Leu) single nucleotide variant not specified [RCV001844521] Chr2:218782235 [GRCh38]
Chr2:219646958 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.68A>G (p.His23Arg) single nucleotide variant not specified [RCV001844523] Chr2:218782250 [GRCh38]
Chr2:219646973 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1010T>C (p.Val337Ala) single nucleotide variant Cholestanol storage disease [RCV001984004] Chr2:218813089 [GRCh38]
Chr2:219677812 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1477-5C>A single nucleotide variant Cholestanol storage disease [RCV002039508] Chr2:218814906 [GRCh38]
Chr2:219679629 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_000784.4(CYP27A1):c.1017+1del deletion Cholestanol storage disease [RCV001911906] Chr2:218813096 [GRCh38]
Chr2:219677819 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_000784.4(CYP27A1):c.1060G>A (p.Asp354Asn) single nucleotide variant Cholestanol storage disease [RCV001872912] Chr2:218814063 [GRCh38]
Chr2:219678786 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1374del (p.Arg459fs) deletion Cholestanol storage disease [RCV002040230] Chr2:218814651 [GRCh38]
Chr2:219679374 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_000784.4(CYP27A1):c.113A>T (p.Asp38Val) single nucleotide variant Cardiovascular phenotype [RCV004044182]|Cholestanol storage disease [RCV001926421]|not provided [RCV004770287] Chr2:218782295 [GRCh38]
Chr2:219647018 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1241A>G (p.Asp414Gly) single nucleotide variant Cholestanol storage disease [RCV002043602] Chr2:218814436 [GRCh38]
Chr2:219679159 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.56G>T (p.Gly19Val) single nucleotide variant Cholestanol storage disease [RCV001983369] Chr2:218782238 [GRCh38]
Chr2:219646961 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1334A>G (p.Gln445Arg) single nucleotide variant Cholestanol storage disease [RCV001945327] Chr2:218814615 [GRCh38]
Chr2:219679338 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.84G>C (p.Lys28Asn) single nucleotide variant Cholestanol storage disease [RCV001908012] Chr2:218782266 [GRCh38]
Chr2:219646989 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q34-36.1(chr2:215108009-221679980) copy number gain not specified [RCV002053282] Chr2:215108009..221679980 [GRCh37]
Chr2:2q34-36.1		 pathogenic
NM_000784.4(CYP27A1):c.1589A>G (p.Gln530Arg) single nucleotide variant Cardiovascular phenotype [RCV003164251]|Cholestanol storage disease [RCV001889998] Chr2:218815023 [GRCh38]
Chr2:219679746 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1184+1G>C single nucleotide variant Cholestanol storage disease [RCV001946909] Chr2:218814188 [GRCh38]
Chr2:219678911 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.335C>G (p.Pro112Arg) single nucleotide variant Cholestanol storage disease [RCV002022095] Chr2:218809656 [GRCh38]
Chr2:219674379 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1244G>C (p.Gly415Ala) single nucleotide variant Cardiovascular phenotype [RCV004612039]|Cholestanol storage disease [RCV001968619] Chr2:218814439 [GRCh38]
Chr2:219679162 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.20C>T (p.Ala7Val) single nucleotide variant CYP27A1-related disorder [RCV003401752]|Cardiovascular phenotype [RCV002422875]|Cholestanol storage disease [RCV002034725]|not specified [RCV001844522] Chr2:218782202 [GRCh38]
Chr2:219646925 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1239dup (p.Asp414Ter) duplication Cholestanol storage disease [RCV001872738] Chr2:218814432..218814433 [GRCh38]
Chr2:219679155..219679156 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
GRCh37/hg19 2q35-37.3(chr2:219606537-239217703) copy number loss not specified [RCV002053285] Chr2:219606537..239217703 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_000784.4(CYP27A1):c.481C>G (p.Leu161Val) single nucleotide variant Cardiovascular phenotype [RCV002337135]|Cholestanol storage disease [RCV002006664] Chr2:218812256 [GRCh38]
Chr2:219676979 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35(chr2:218210665-220141650) copy number gain not specified [RCV002053284] Chr2:218210665..220141650 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.62G>A (p.Cys21Tyr) single nucleotide variant Cholestanol storage disease [RCV002041305] Chr2:218782244 [GRCh38]
Chr2:219646967 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.124G>A (p.Gly42Arg) single nucleotide variant Cholestanol storage disease [RCV001892994] Chr2:218782306 [GRCh38]
Chr2:219647029 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.77G>A (p.Arg26Lys) single nucleotide variant Cholestanol storage disease [RCV001911923] Chr2:218782259 [GRCh38]
Chr2:219646982 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.152G>C (p.Arg51Pro) single nucleotide variant Cholestanol storage disease [RCV001964265] Chr2:218782334 [GRCh38]
Chr2:219647057 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.56G>C (p.Gly19Ala) single nucleotide variant Cholestanol storage disease [RCV002042561] Chr2:218782238 [GRCh38]
Chr2:219646961 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.74C>G (p.Ala25Gly) single nucleotide variant not specified [RCV001844520] Chr2:218782256 [GRCh38]
Chr2:219646979 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.332C>G (p.Ala111Gly) single nucleotide variant Cholestanol storage disease [RCV002021461]|Premature coronary artery atherosclerosis [RCV003444003] Chr2:218809653 [GRCh38]
Chr2:219674376 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.700C>A (p.Pro234Thr) single nucleotide variant Cholestanol storage disease [RCV001909955] Chr2:218812605 [GRCh38]
Chr2:219677328 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.988C>T (p.Pro330Ser) single nucleotide variant Cholestanol storage disease [RCV001927476] Chr2:218813067 [GRCh38]
Chr2:219677790 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1462C>T (p.Leu488=) single nucleotide variant Cholestanol storage disease [RCV001913092] Chr2:218814743 [GRCh38]
Chr2:219679466 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1520A>T (p.Glu507Val) single nucleotide variant Cholestanol storage disease [RCV002002847] Chr2:218814954 [GRCh38]
Chr2:219679677 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.376G>C (p.Val126Leu) single nucleotide variant Cardiovascular phenotype [RCV004040677]|Cholestanol storage disease [RCV001871165] Chr2:218809697 [GRCh38]
Chr2:219674420 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.733G>A (p.Gly245Arg) single nucleotide variant Cholestanol storage disease [RCV001962373] Chr2:218812638 [GRCh38]
Chr2:219677361 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.845-3C>T single nucleotide variant Cholestanol storage disease [RCV001955627] Chr2:218812921 [GRCh38]
Chr2:219677644 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.205T>C (p.Phe69Leu) single nucleotide variant Cholestanol storage disease [RCV001920519] Chr2:218782387 [GRCh38]
Chr2:219647110 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.151C>T (p.Arg51Trp) single nucleotide variant Cholestanol storage disease [RCV002034171] Chr2:218782333 [GRCh38]
Chr2:219647056 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.935A>C (p.His312Pro) single nucleotide variant Cholestanol storage disease [RCV002037067] Chr2:218813014 [GRCh38]
Chr2:219677737 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.785G>T (p.Arg262Leu) single nucleotide variant Cholestanol storage disease [RCV001941018] Chr2:218812690 [GRCh38]
Chr2:219677413 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1394G>T (p.Gly465Val) single nucleotide variant Cholestanol storage disease [RCV002016308] Chr2:218814675 [GRCh38]
Chr2:219679398 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1540A>G (p.Ile514Val) single nucleotide variant Cholestanol storage disease [RCV001944094] Chr2:218814974 [GRCh38]
Chr2:219679697 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1017+15_1017+18del deletion Cholestanol storage disease [RCV002036928] Chr2:218813108..218813111 [GRCh38]
Chr2:219677831..219677834 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.597G>T (p.Gly199=) single nucleotide variant Cholestanol storage disease [RCV001999240] Chr2:218812372 [GRCh38]
Chr2:219677095 [GRCh37]
Chr2:2q35		 uncertain significance
NC_000002.11:g.(?_219646906)_(219738567_?)del deletion Cholestanol storage disease [RCV001963049] Chr2:219646906..219738567 [GRCh37]
Chr2:2q35		 pathogenic
NC_000002.11:g.(?_219674280)_(219679753_?)del deletion Cholestanol storage disease [RCV001956368] Chr2:219674280..219679753 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.1165G>A (p.Val389Met) single nucleotide variant Cholestanol storage disease [RCV001897188] Chr2:218814168 [GRCh38]
Chr2:219678891 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.844+6G>A single nucleotide variant Cholestanol storage disease [RCV001958285] Chr2:218812755 [GRCh38]
Chr2:219677478 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1087G>T (p.Glu363Ter) single nucleotide variant Cholestanol storage disease [RCV001888764] Chr2:218814090 [GRCh38]
Chr2:219678813 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.506C>G (p.Ala169Gly) single nucleotide variant Cholestanol storage disease [RCV001998532] Chr2:218812281 [GRCh38]
Chr2:219677004 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.455A>C (p.His152Pro) single nucleotide variant Cholestanol storage disease [RCV001979820] Chr2:218812230 [GRCh38]
Chr2:219676953 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1556A>G (p.Asn519Ser) single nucleotide variant CYP27A1-related disorder [RCV003401836]|Cardiovascular phenotype [RCV002397851]|Cholestanol storage disease [RCV001917415] Chr2:218814990 [GRCh38]
Chr2:219679713 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.473G>A (p.Arg158His) single nucleotide variant Cholestanol storage disease [RCV002037476] Chr2:218812248 [GRCh38]
Chr2:219676971 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.420C>A (p.His140Gln) single nucleotide variant Cholestanol storage disease [RCV001899071] Chr2:218809741 [GRCh38]
Chr2:219674464 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.15C>T (p.Gly5=) single nucleotide variant Cholestanol storage disease [RCV001954250] Chr2:218782197 [GRCh38]
Chr2:219646920 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.283A>G (p.Met95Val) single nucleotide variant Cardiovascular phenotype [RCV004042403]|Cholestanol storage disease [RCV001991088] Chr2:218809604 [GRCh38]
Chr2:219674327 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1196T>C (p.Val399Ala) single nucleotide variant Cholestanol storage disease [RCV002012908] Chr2:218814391 [GRCh38]
Chr2:219679114 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.315C>A (p.His105Gln) single nucleotide variant Cholestanol storage disease [RCV001972967] Chr2:218809636 [GRCh38]
Chr2:219674359 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.868C>T (p.Leu290Phe) single nucleotide variant Cholestanol storage disease [RCV002048329] Chr2:218812947 [GRCh38]
Chr2:219677670 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.253C>T (p.Gln85Ter) single nucleotide variant Cholestanol storage disease [RCV001900808] Chr2:218782435 [GRCh38]
Chr2:219647158 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.970G>A (p.Glu324Lys) single nucleotide variant Cholestanol storage disease [RCV001882354] Chr2:218813049 [GRCh38]
Chr2:219677772 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1078G>C (p.Ala360Pro) single nucleotide variant Cholestanol storage disease [RCV001876432] Chr2:218814081 [GRCh38]
Chr2:219678804 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.702del (p.Glu235fs) deletion Cholestanol storage disease [RCV001952079] Chr2:218812604 [GRCh38]
Chr2:219677327 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.1457T>C (p.Met486Thr) single nucleotide variant Cholestanol storage disease [RCV002047167] Chr2:218814738 [GRCh38]
Chr2:219679461 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.844+20G>A single nucleotide variant Cholestanol storage disease [RCV001952109] Chr2:218812769 [GRCh38]
Chr2:219677492 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1109C>T (p.Pro370Leu) single nucleotide variant Cholestanol storage disease [RCV001864859] Chr2:218814112 [GRCh38]
Chr2:219678835 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.765_766del (p.Phe256fs) deletion Cholestanol storage disease [RCV001953748] Chr2:218812670..218812671 [GRCh38]
Chr2:219677393..219677394 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.862G>A (p.Glu288Lys) single nucleotide variant Cholestanol storage disease [RCV002027664] Chr2:218812941 [GRCh38]
Chr2:219677664 [GRCh37]
Chr2:2q35		 uncertain significance
NC_000002.11:g.(?_218999525)_(220435954_?)dup duplication Alacrima, achalasia, and intellectual disability syndrome [RCV001955103]|Paroxysmal nonkinesigenic dyskinesia [RCV001962531] Chr2:218999525..220435954 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1524G>C (p.Leu508Phe) single nucleotide variant Cholestanol storage disease [RCV001989240] Chr2:218814958 [GRCh38]
Chr2:219679681 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1519del (p.Glu507fs) deletion Cholestanol storage disease [RCV001951265] Chr2:218814949 [GRCh38]
Chr2:219679672 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.1435C>A (p.Arg479Ser) single nucleotide variant Cholestanol storage disease [RCV001951410] Chr2:218814716 [GRCh38]
Chr2:219679439 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.1264-14A>G single nucleotide variant Cholestanol storage disease [RCV002047802] Chr2:218814531 [GRCh38]
Chr2:219679254 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.470T>C (p.Leu157Pro) single nucleotide variant Cardiovascular phenotype [RCV002334945]|Cholestanol storage disease [RCV001936845] Chr2:218812245 [GRCh38]
Chr2:219676968 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.667G>C (p.Glu223Gln) single nucleotide variant Cholestanol storage disease [RCV001901425] Chr2:218812572 [GRCh38]
Chr2:219677295 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.416A>G (p.Gln139Arg) single nucleotide variant Cardiovascular phenotype [RCV002331345]|Cholestanol storage disease [RCV002050665]|not provided [RCV002305626] Chr2:218809737 [GRCh38]
Chr2:219674460 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1415G>A (p.Gly472Glu) single nucleotide variant Cholestanol storage disease [RCV002050716] Chr2:218814696 [GRCh38]
Chr2:219679419 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1436G>T (p.Arg479Leu) single nucleotide variant Cholestanol storage disease [RCV001976677] Chr2:218814717 [GRCh38]
Chr2:219679440 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_000784.4(CYP27A1):c.1573C>A (p.Gln525Lys) single nucleotide variant Cholestanol storage disease [RCV001957656] Chr2:218815007 [GRCh38]
Chr2:219679730 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.828T>G (p.Asn276Lys) single nucleotide variant Cholestanol storage disease [RCV001883245] Chr2:218812733 [GRCh38]
Chr2:219677456 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1472C>T (p.Ala491Val) single nucleotide variant Cholestanol storage disease [RCV002049419] Chr2:218814753 [GRCh38]
Chr2:219679476 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.426del (p.Thr143fs) deletion Cholestanol storage disease [RCV001980037] Chr2:218809747 [GRCh38]
Chr2:219674470 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.447-1G>A single nucleotide variant Cholestanol storage disease [RCV001998853] Chr2:218812221 [GRCh38]
Chr2:219676944 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_000784.4(CYP27A1):c.1075G>A (p.Glu359Lys) single nucleotide variant Cholestanol storage disease [RCV001940930] Chr2:218814078 [GRCh38]
Chr2:219678801 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1282C>T (p.His428Tyr) single nucleotide variant Cardiovascular phenotype [RCV002386873]|Cholestanol storage disease [RCV002010589] Chr2:218814563 [GRCh38]
Chr2:219679286 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.667G>A (p.Glu223Lys) single nucleotide variant Cholestanol storage disease [RCV002014569] Chr2:218812572 [GRCh38]
Chr2:219677295 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1286A>C (p.Tyr429Ser) single nucleotide variant Cholestanol storage disease [RCV002013196] Chr2:218814567 [GRCh38]
Chr2:219679290 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.785G>A (p.Arg262His) single nucleotide variant Cholestanol storage disease [RCV001876523] Chr2:218812690 [GRCh38]
Chr2:219677413 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.478G>A (p.Ala160Thr) single nucleotide variant Cholestanol storage disease [RCV001954719] Chr2:218812253 [GRCh38]
Chr2:219676976 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.193C>G (p.Gln65Glu) single nucleotide variant Cardiovascular phenotype [RCV002407287]|Cholestanol storage disease [RCV002013410] Chr2:218782375 [GRCh38]
Chr2:219647098 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.641T>C (p.Leu214Ser) single nucleotide variant Cholestanol storage disease [RCV001925903] Chr2:218812416 [GRCh38]
Chr2:219677139 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.821G>C (p.Gly274Ala) single nucleotide variant Cholestanol storage disease [RCV001981442] Chr2:218812726 [GRCh38]
Chr2:219677449 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.587G>T (p.Ser196Ile) single nucleotide variant Cholestanol storage disease [RCV001875283] Chr2:218812362 [GRCh38]
Chr2:219677085 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1394G>A (p.Gly465Asp) single nucleotide variant Cholestanol storage disease [RCV001876842] Chr2:218814675 [GRCh38]
Chr2:219679398 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.781A>G (p.Thr261Ala) single nucleotide variant Cholestanol storage disease [RCV002017347] Chr2:218812686 [GRCh38]
Chr2:219677409 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.866A>C (p.Lys289Thr) single nucleotide variant Cholestanol storage disease [RCV001925391] Chr2:218812945 [GRCh38]
Chr2:219677668 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1086C>A (p.His362Gln) single nucleotide variant Cardiovascular phenotype [RCV002425421]|Cholestanol storage disease [RCV002026305] Chr2:218814089 [GRCh38]
Chr2:219678812 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.45_46del (p.Ala16fs) deletion Cholestanol storage disease [RCV001953860] Chr2:218782225..218782226 [GRCh38]
Chr2:219646948..219646949 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.61T>C (p.Cys21Arg) single nucleotide variant Cholestanol storage disease [RCV001924253] Chr2:218782243 [GRCh38]
Chr2:219646966 [GRCh37]
Chr2:2q35		 uncertain significance
NC_000002.11:g.(?_219646906)_(219647180_?)del deletion Cholestanol storage disease [RCV001953878] Chr2:219646906..219647180 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.110C>G (p.Ser37Trp) single nucleotide variant Cholestanol storage disease [RCV001989345] Chr2:218782292 [GRCh38]
Chr2:219647015 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.157C>G (p.Arg53Gly) single nucleotide variant Cholestanol storage disease [RCV001990616] Chr2:218782339 [GRCh38]
Chr2:219647062 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1018-1G>C single nucleotide variant Cholestanol storage disease [RCV002032326] Chr2:218814020 [GRCh38]
Chr2:219678743 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_000784.4(CYP27A1):c.1514C>A (p.Thr505Lys) single nucleotide variant Cardiovascular phenotype [RCV002388914]|Cholestanol storage disease [RCV001958357] Chr2:218814948 [GRCh38]
Chr2:219679671 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.877A>T (p.Met293Leu) single nucleotide variant Cholestanol storage disease [RCV002034105] Chr2:218812956 [GRCh38]
Chr2:219677679 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1231A>T (p.Ile411Phe) single nucleotide variant Cholestanol storage disease [RCV002050431] Chr2:218814426 [GRCh38]
Chr2:219679149 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1399G>C (p.Val467Leu) single nucleotide variant Cholestanol storage disease [RCV001900210] Chr2:218814680 [GRCh38]
Chr2:219679403 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1373C>T (p.Pro458Leu) single nucleotide variant Cardiovascular phenotype [RCV004611985]|Cholestanol storage disease [RCV001940132] Chr2:218814654 [GRCh38]
Chr2:219679377 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_000784.4(CYP27A1):c.343G>C (p.Glu115Gln) single nucleotide variant Cholestanol storage disease [RCV001977170] Chr2:218809664 [GRCh38]
Chr2:219674387 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1117C>A (p.Gln373Lys) single nucleotide variant Cholestanol storage disease [RCV001884065] Chr2:218814120 [GRCh38]
Chr2:219678843 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1477-3C>A single nucleotide variant CYP27A1-related disorder [RCV003978437]|Cholestanol storage disease [RCV001979803] Chr2:218814908 [GRCh38]
Chr2:219679631 [GRCh37]
Chr2:2q35		 uncertain significance
NC_000002.11:g.(?_219674280)_(219674510_?)del deletion Cholestanol storage disease [RCV004582429] Chr2:219674280..219674510 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.97G>A (p.Ala33Thr) single nucleotide variant Cholestanol storage disease [RCV001998020] Chr2:218782279 [GRCh38]
Chr2:219647002 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.38T>C (p.Leu13Pro) single nucleotide variant Cholestanol storage disease [RCV001884958] Chr2:218782220 [GRCh38]
Chr2:219646943 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1162G>A (p.Ala388Thr) single nucleotide variant Cholestanol storage disease [RCV001885808] Chr2:218814165 [GRCh38]
Chr2:219678888 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1348C>G (p.Leu450Val) single nucleotide variant Cholestanol storage disease [RCV001931285] Chr2:218814629 [GRCh38]
Chr2:219679352 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1339_1342dup (p.Arg448fs) duplication Cholestanol storage disease [RCV001939665] Chr2:218814617..218814618 [GRCh38]
Chr2:219679340..219679341 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.484A>C (p.Asn162His) single nucleotide variant Cholestanol storage disease [RCV001959692]|not provided [RCV002265054] Chr2:218812259 [GRCh38]
Chr2:219676982 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.530C>T (p.Ala177Val) single nucleotide variant Cholestanol storage disease [RCV002013239] Chr2:218812305 [GRCh38]
Chr2:219677028 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1466T>A (p.Leu489His) single nucleotide variant Cholestanol storage disease [RCV001973801] Chr2:218814747 [GRCh38]
Chr2:219679470 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.883G>C (p.Ala295Pro) single nucleotide variant Cholestanol storage disease [RCV001919407] Chr2:218812962 [GRCh38]
Chr2:219677685 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.14G>A (p.Gly5Asp) single nucleotide variant Cholestanol storage disease [RCV001866335] Chr2:218782196 [GRCh38]
Chr2:219646919 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.577C>T (p.Arg193Trp) single nucleotide variant Cardiovascular phenotype [RCV004044701]|Cholestanol storage disease [RCV001973159]|not provided [RCV004774570] Chr2:218812352 [GRCh38]
Chr2:219677075 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1333C>T (p.Gln445Ter) single nucleotide variant Cholestanol storage disease [RCV001902771] Chr2:218814614 [GRCh38]
Chr2:219679337 [GRCh37]
Chr2:2q35		 pathogenic
NM_000784.4(CYP27A1):c.1391T>G (p.Phe464Cys) single nucleotide variant Cholestanol storage disease [RCV002049070] Chr2:218814672 [GRCh38]
Chr2:219679395 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.647-3C>A single nucleotide variant Cholestanol storage disease [RCV002029399] Chr2:218812549 [GRCh38]
Chr2:219677272 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.705G>A (p.Glu235=) single nucleotide variant Cardiovascular phenotype [RCV002361088]|Cholestanol storage disease [RCV002050166] Chr2:218812610 [GRCh38]
Chr2:219677333 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_000784.4(CYP27A1):c.769C>T (p.Leu257Phe) single nucleotide variant Cholestanol storage disease [RCV001955923] Chr2:218812674 [GRCh38]
Chr2:219677397 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.440_446+2del deletion Cholestanol storage disease [RCV001990565] Chr2:218809758..218809766 [GRCh38]
Chr2:219674481..219674489 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_000784.4(CYP27A1):c.1477-3C>G single nucleotide variant Cholestanol storage disease [RCV002014641] Chr2:218814908 [GRCh38]
Chr2:219679631 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.844+4A>G single nucleotide variant Cholestanol storage disease [RCV001870053] Chr2:218812753 [GRCh38]
Chr2:219677476 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.316G>A (p.Val106Met) single nucleotide variant Cholestanol storage disease [RCV001904657] Chr2:218809637 [GRCh38]
Chr2:219674360 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.1349T>C (p.Leu450Pro) single nucleotide variant Cholestanol storage disease [RCV001931089] Chr2:218814630 [GRCh38]
Chr2:219679353 [GRCh37]
Chr2:2q35		 uncertain significance
NM_000784.4(CYP27A1):c.21G>A (p.Ala7=) single nucleotide variant Cholestanol storage disease [RCV002211479] Chr2:218782203 [GRCh38]
Chr2:219646926 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.132C>G (p.Pro44=) single nucleotide variant Cholestanol storage disease [RCV002071632] Chr2:218782314 [GRCh38]
Chr2:219647037 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.9G>T (p.Ala3=) single nucleotide variant Cholestanol storage disease [RCV002190419] Chr2:218782191 [GRCh38]
Chr2:219646914 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.990T>C (p.Pro330=) single nucleotide variant Cholestanol storage disease [RCV002187969] Chr2:218813069 [GRCh38]
Chr2:219677792 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.669G>A (p.Glu223=) single nucleotide variant Cholestanol storage disease [RCV002085544] Chr2:218812574 [GRCh38]
Chr2:219677297 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.798T>C (p.Pro266=) single nucleotide variant Cholestanol storage disease [RCV002190562] Chr2:218812703 [GRCh38]
Chr2:219677426 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.1477-6C>T single nucleotide variant Cholestanol storage disease [RCV002165446] Chr2:218814905 [GRCh38]
Chr2:219679628 [GRCh37]
Chr2:2q35		 likely benign
NM_000784.4(CYP27A1):c.543G>T (p.Val181=) single nucleotide variant Cholestanol storage disease [RCV002072738] Chr2:218812318&