CYP27B1 (cytochrome P450 family 27 subfamily B member 1)

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Gene: CYP27B1 (cytochrome P450 family 27 subfamily B member 1) Homo sapiens

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Symbol:

CYP27B1

Name:

cytochrome P450 family 27 subfamily B member 1

RGD ID:

69201

HGNC Page

HGNC:2606

Description:

Enables calcidiol 1-monooxygenase activity and secalciferol 1-monooxygenase activity. Involved in several processes, including calcitriol biosynthetic process from calciol; decidualization; and regulation of monooxygenase activity. Located in cytoplasm. Implicated in hepatitis B; obesity; rickets; type 1 diabetes mellitus; and vitamin D-dependent rickets type 1A. Biomarker of gestational diabetes and pre-eclampsia.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

1alpha(OH)ase; 25 hydroxyvitamin D3-1-alpha hydroxylase; 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial; 25-OHD-1 alpha-hydroxylase; calcidiol 1-monooxygenase; CP2B; CYP1; CYP1alpha; CYP27B; cytochrome p450 27B1; cytochrome P450 subfamily XXVIIB polypeptide 1; cytochrome P450, family 27, subfamily B, polypeptide 1; cytochrome P450C1 alpha; cytochrome P450VD1-alpha; P450c1; PDDR; VD3 1A hydroxylase; VDD1; VDDR; VDDRI; VDR

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Cyp27b1 (cytochrome P450, family 27, subfamily b, polypeptide 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Cyp27b1 (cytochrome P450, family 27, subfamily b, polypeptide 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther
Chinchilla lanigera (long-tailed chinchilla):	LOC102011841 (25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	CYP27B1 (cytochrome P450 family 27 subfamily B member 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	CYP27B1 (cytochrome P450 family 27 subfamily B member 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	LOC101978323 (25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial)	NCBI	Ortholog
Sus scrofa (pig):	CYP27B1 (cytochrome P450 family 27 subfamily B member 1)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	CYP27B1 (cytochrome P450 family 27 subfamily B member 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	LOC101700851 (25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Cyp27b1 (cytochrome P450, family 27, subfamily b, polypeptide 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Cyp27b1 (cytochrome P450, family 27, subfamily b, polypeptide 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	cyp27b1 (cytochrome P450, family 27, subfamily B, polypeptide 1)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	Cyp12c1	Alliance	DIOPT (InParanoid\|OMA\|OrthoInspector\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Cyp49a1	Alliance	DIOPT (InParanoid\|OrthoInspector\|SonicParanoid)
Caenorhabditis elegans (roundworm):	cyp-44A1	Alliance	DIOPT (InParanoid\|OrthoInspector\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Cyp12a4	Alliance	DIOPT (InParanoid\|OMA\|OrthoInspector\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Cyp12a5	Alliance	DIOPT (InParanoid\|OMA\|OrthoInspector\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Cyp12b2	Alliance	DIOPT (InParanoid\|OMA\|OrthoInspector\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Cyp12d1-d	Alliance	DIOPT (InParanoid\|OMA\|OrthoInspector\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Cyp12d1-p	Alliance	DIOPT (InParanoid\|OMA\|OrthoInspector\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Cyp12e1	Alliance	DIOPT (InParanoid\|OrthoInspector\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Cyp301a1	Alliance	DIOPT (InParanoid\|OrthoInspector\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	il17d	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	cyp27b1.S	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	cyp27b1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	cyp27b1.L	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	57,762,334 - 57,767,078 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	57,762,334 - 57,768,986 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	58,156,117 - 58,160,861 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	56,442,384 - 56,447,243 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	56,442,385 - 56,447,151	NCBI
Celera	12	57,813,712 - 57,818,571 (-)	NCBI		Celera
Cytogenetic Map	12	q14.1	NCBI
HuRef	12	55,192,956 - 55,197,815 (-)	NCBI		HuRef
CHM1_1	12	58,123,921 - 58,128,780 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	12	57,730,683 - 57,735,427 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Acidoses (ISO)

acute kidney failure (ISO)

autism spectrum disorder (EXP)

autosomal dominant hypocalcemia (ISO)

cataract 15 multiple types (IAGP)

Charcot-Marie-Tooth disease axonal type 2U (IAGP)

Chemical and Drug Induced Liver Injury (ISO)

Chronic Hepatitis C (IAGP)

Experimental Diabetes Mellitus (ISO)

familial melanoma (IAGP)

genetic disease (IAGP)

gestational diabetes (IEP)

hepatitis B (IAGP)

hypercalcemia (EXP)

hyperparathyroidism (ISO)

INTERSTITIAL LUNG AND LIVER DISEASE (IAGP)

metabolic dysfunction-associated steatotic liver disease (ISO)

multiple sclerosis (IAGP)

nephrosis (ISO)

nephrotoxicity (ISO)

obesity (IAGP)

paraplegia (IAGP)

polymyositis (EXP)

pre-eclampsia (IEP)

rickets (EXP,IAGP,ISO,ISS)

steatotic liver disease (ISO)

type 1 diabetes mellitus (IAGP)

Vitamin D Deficiency (IAGP)

vitamin D-dependent rickets (IAGP)

vitamin D-dependent rickets type 1A (EXP,IAGP,ISO)

Wilson disease (ISO)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-epigallocatechin 3-gallate (EXP)

1,2-dichloroethane (ISO)

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP)

17beta-hydroxy-5alpha-androstan-3-one (EXP)

2,2',4,4',5,5'-hexachlorobiphenyl (ISO)

2,2',4,4'-Tetrabromodiphenyl ether (EXP)

2,2',5,5'-tetrachlorobiphenyl (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine (ISO)

3,3',4,4',5-pentachlorobiphenyl (ISO)

acrylamide (EXP)

aldehydo-D-glucose (ISO)

aristolochic acid A (EXP)

arsane (EXP)

arsenic atom (EXP)

benzo[a]pyrene (EXP)

benzo[e]pyrene (EXP)

beta-naphthoflavone (EXP)

biochanin A (EXP)

bisphenol A (ISO)

bromobenzene (ISO)

caesium atom (ISO)

calcidiol (EXP,ISO)

calciol (ISO)

calcitriol (EXP,ISO)

calcium atom (ISO)

calcium(0) (ISO)

CGP 52608 (EXP)

chlorpyrifos (ISO)

cisplatin (EXP)

copper atom (EXP)

copper(0) (EXP)

corosolic acid (ISO)

cyclosporin A (EXP,ISO)

D-glucose (ISO)

dexamethasone (ISO)

dextran sulfate (ISO)

dioxygen (ISO)

diquat (ISO)

doxorubicin (EXP)

endosulfan (ISO)

ethanol (ISO)

etoposide (EXP)

flavonoids (ISO)

fructose (ISO)

genistein (EXP)

gentamycin (ISO)

glucose (ISO)

ketoconazole (ISO)

lead diacetate (EXP,ISO)

lipopolysaccharide (EXP)

malathion (EXP)

medroxyprogesterone acetate (EXP)

melphalan (EXP)

metformin (EXP)

methapyrilene (EXP)

N-methyl-N-nitrosourea (ISO)

nickel atom (EXP)

oxybenzone (ISO)

paclitaxel (EXP)

paracetamol (EXP,ISO)

PCB138 (ISO)

PD 0325901 (ISO)

PhIP (EXP)

phorbol 13-acetate 12-myristate (ISO)

phosphorus atom (ISO)

phosphorus(.) (ISO)

potassium chromate (EXP)

progesterone (EXP)

protein kinase inhibitor (ISO)

quercetin (EXP)

raloxifene (EXP)

rotenone (EXP)

SB 203580 (EXP)

serpentine asbestos (EXP)

sodium arsenite (EXP)

sulfasalazine (EXP)

tacrolimus hydrate (ISO)

tamoxifen (EXP)

temozolomide (EXP)

tetrachloroethene (ISO)

thioacetamide (ISO)

thiram (EXP)

titanium dioxide (ISO)

triadimefon (ISO)

Triptolide (ISO)

triptonide (ISO)

uranium atom (ISO)

urethane (EXP)

valproic acid (EXP)

vancomycin (ISO)

vitamin D (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

bone mineralization (IEP)

calcitriol biosynthetic process from calciol (IBA,IDA,IEA)

calcium ion homeostasis (IMP)

calcium ion transport (IEA,ISO,ISS)

decidualization (IEP)

G1 to G0 transition (IMP)

lactation (ISO)

lipid metabolic process (IEA)

negative regulation of bone trabecula formation (ISO)

negative regulation of calcidiol 1-monooxygenase activity (IDA)

negative regulation of cell growth (IMP)

negative regulation of cell population proliferation (IDA)

negative regulation of ossification (ISO)

positive regulation of keratinocyte differentiation (IMP)

positive regulation of parathyroid hormone secretion (ISO)

positive regulation of vitamin D 24-hydroxylase activity (IDA)

positive regulation of vitamin D receptor signaling pathway (IDA)

regulation of bone mineralization (IMP)

response to calcium ion (ISO)

response to cAMP (ISO)

response to copper ion (ISO)

response to estrogen (IEP)

response to insulin (ISO)

response to lipopolysaccharide (IDA)

response to peptide hormone (ISO)

response to prostaglandin E (ISO)

response to type II interferon (IDA)

response to vitamin D (IBA,IDA,IEA,ISO)

response to xenobiotic stimulus (ISO)

vitamin D biosynthetic process (IEA)

vitamin D catabolic process (IBA,IEA)

vitamin D metabolic process (IDA,ISO,TAS)

vitamin metabolic process (TAS)

Cellular Component

cytoplasm (IDA)

membrane (IEA)

mitochondrial membrane (IEA)

mitochondrial outer membrane (TAS)

mitochondrion (HTP,IBA,IEA,ISS,TAS)

Molecular Function

calcidiol 1-monooxygenase activity (IDA,IEA,ISO,TAS)

heme binding (IEA)

iron ion binding (IEA)

metal ion binding (IEA)

monooxygenase activity (IEA)

oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (IEA)

secalciferol 1-monooxygenase activity (IDA,IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

tuberculosis pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abdominal wall muscle weakness (IAGP)

Abnormal blood chloride concentration (IAGP)

Autosomal recessive inheritance (IAGP)

Bone pain (IAGP)

Bowing of the legs (IAGP)

Bulging epiphyses (IAGP)

Bulging of the costochondral junction (IAGP)

Cardiomyopathy (IAGP)

Childhood onset (IAGP)

Decreased circulating calcifediol concentration (IAGP)

Decreased circulating vitamin D concentration (IAGP)

Deformed rib cage (IAGP)

Delayed epiphyseal ossification (IAGP)

Delayed eruption of teeth (IAGP)

Difficulty standing (IAGP)

Elevated alkaline phosphatase of bone origin (IAGP)

Elevated circulating alkaline phosphatase concentration (IAGP)

Elevated circulating parathyroid hormone level (IAGP)

Enamel hypoplasia (IAGP)

Enlargement of the ankles (IAGP)

Enlargement of the costochondral junction (IAGP)

Enlargement of the wrists (IAGP)

Failure to thrive (IAGP)

Femoral bowing (IAGP)

Fibular bowing (IAGP)

Flat occiput (IAGP)

Frontal bossing (IAGP)

Gait disturbance (IAGP)

Generalized aminoaciduria (IAGP)

Generalized hypotonia (IAGP)

Genu varum (IAGP)

Growth delay (IAGP)

Hepatomegaly (IAGP)

Hypocalcemia (IAGP)

Hypocalcemic seizures (IAGP)

Hypocalciuria (IAGP)

Hypochromic anemia (IAGP)

Hypophosphatemia (IAGP)

Hypotonia (IAGP)

Increased hepatitis B virus antibody level (IAGP)

Increased susceptibility to fractures (IAGP)

Infantile onset (IAGP)

Irregular, rachitic-like metaphyses (IAGP)

Irritability (IAGP)

Ketonuria (IAGP)

Leukocytosis (IAGP)

Low serum calcitriol (IAGP)

Metabolic acidosis (IAGP)

Metaphyseal cupping (IAGP)

Metaphyseal irregularity (IAGP)

Motor delay (IAGP)

Muscle weakness (IAGP)

Osteomalacia (IAGP)

Postnatal growth retardation (IAGP)

Protuberant abdomen (IAGP)

Rachitic rosary (IAGP)

Recurrent fractures (IAGP)

Reduced subcutaneous adipose tissue (IAGP)

Renal phosphate wasting (IAGP)

Rickets (IAGP)

Secondary hyperparathyroidism (IAGP)

Short stature (IAGP)

Sparse bone trabeculae (IAGP)

Spastic paraplegia (IAGP)

Splenomegaly (IAGP)

Subperiosteal bone resorption (IAGP)

Tetany (IAGP)

Thin bony cortex (IAGP)

Tibial bowing (IAGP)

Wide cranial sutures (IAGP)

Widely patent fontanelles and sutures (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes.	Bailey R, etal., Diabetes. 2007 Oct;56(10):2616-21. Epub 2007 Jul 2.
2.	Vitamin D Deficiency Increases Lipogenesis and Reduces Beta-Oxidation in the Liver of Diet-Induced Obese Mice.	Borges CC, etal., J Nutr Sci Vitaminol (Tokyo). 2018;64(2):106-115. doi: 10.3177/jnsv.64.106.
3.	Metabolism of 25-hydroxyvitamin D in copper-laden rat: a model of Wilson's disease.	Carpenter TO, etal., Am J Physiol. 1988 Feb;254(2 Pt 1):E150-4.
4.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
5.	Role of insulin in the stimulation of renal 25-hydroxyvitamin D3-1 alpha-hydroxylase by phosphorus deprivation in rats.	Ikeda K, etal., Metabolism. 1987 Jun;36(6):555-7.
6.	Metabolic acidosis suppresses 25-hydroxyvitamin in D3-1alpha-hydroxylase in the rat kidney. Distinct site and mechanism of action.	Kawashima H, etal., J Clin Invest. 1982 Jul;70(1):135-40.
7.	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.
8.	Vitamin D deficiency and a CYP27B1-1260 promoter polymorphism are associated with chronic hepatitis C and poor response to interferon-alfa based therapy.	Lange CM, etal., J Hepatol. 2011 May;54(5):887-93. doi: 10.1016/j.jhep.2010.08.036. Epub 2011 Jan 20.
9.	Expressions of vitamin D metabolic components VDBP, CYP2R1, CYP27B1, CYP24A1, and VDR in placentas from normal and preeclamptic pregnancies.	Ma R, etal., Am J Physiol Endocrinol Metab. 2012 Oct 1;303(7):E928-35. doi: 10.1152/ajpendo.00279.2012. Epub 2012 Aug 7.
10.	The deficiency and the supplementation of vitamin D and liver: Lessons of chronic fructose-rich diet in mice.	Maia-Ceciliano TC, etal., J Steroid Biochem Mol Biol. 2019 Sep;192:105399. doi: 10.1016/j.jsbmb.2019.105399. Epub 2019 Jun 5.
11.	Possible mechanism of impaired calcium and vitamin D metabolism in nephrotic rats.	Mizokuchi M, etal., Kidney Int. 1992 Aug;42(2):335-40.
12.	Generation of novel genetically modified rats to reveal the molecular mechanisms of vitamin D actions.	Nishikawa M, etal., Sci Rep. 2020 Mar 30;10(1):5677. doi: 10.1038/s41598-020-62048-1.
13.	Vitamin D and calcium co-therapy mitigates pre-established cadmium nephropathy by regulating renal calcium homeostatic molecules and improving anti-oxidative and anti-inflammatory activities in rat.	Obaid AA, etal., J Trace Elem Med Biol. 2023 May 24;79:127221. doi: 10.1016/j.jtemb.2023.127221.
14.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
15.	Targeted ablation of the 25-hydroxyvitamin D 1alpha -hydroxylase enzyme: evidence for skeletal, reproductive, and immune dysfunction.	Panda DK, etal., Proc Natl Acad Sci U S A 2001 Jun 19;98(13):7498-503.
16.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
17.	Gestational diabetes mellitus and vitamin D deficiency: genetic contribution of CYP27B1 and CYP2R1 polymorphisms.	Ramos-Lopez E, etal., Diabetes Obes Metab. 2008 Aug;10(8):683-5. Epub 2008 May 12.
18.	CYP2R1-, CYP27B1- and CYP24-mRNA expression in German type 1 diabetes patients.	Ramos-Lopez E, etal., J Steroid Biochem Mol Biol. 2007 Mar;103(3-5):807-10. Epub 2007 Jan 16.
19.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
20.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
21.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
22.	Effects of repeated administration of rifampicin and isoniazid on vitamin D metabolism in mice.	Sheng L, etal., Steroids. 2015 Dec;104:203-7. doi: 10.1016/j.steroids.2015.10.004. Epub 2015 Oct 22.
23.	Disrupted placental vitamin D metabolism and calcium signaling in gestational diabetes and pre-eclampsia patients.	Varshney S, etal., Endocrine. 2023 Apr;80(1):191-200. doi: 10.1007/s12020-022-03272-9. Epub 2022 Dec 8.
24.	Single-nucleotide polymorphism at CYP27B1-1260, but not VDR Taq I, is possibly associated with persistent hepatitis B virus infection.	Zhu Q, etal., Genet Test Mol Biomarkers. 2012 Sep;16(9):1115-21. doi: 10.1089/gtmb.2012.0148.

Additional References at PubMed

PMID:1662663	PMID:1690216	PMID:1971995	PMID:9282826	PMID:9295274	PMID:9333115	PMID:9344864	PMID:9415400	PMID:9428799	PMID:9837822	PMID:10320521	PMID:10359826
PMID:10518789	PMID:10566658	PMID:11799066	PMID:12039697	PMID:12050193	PMID:12050281	PMID:12107095	PMID:12137802	PMID:12161526	PMID:12386916	PMID:12477932	PMID:12496369
PMID:12520522	PMID:12746631	PMID:12855575	PMID:14671156	PMID:15225751	PMID:15243130	PMID:15296474	PMID:15331405	PMID:15342556	PMID:15583024	PMID:15589699	PMID:15795327
PMID:15947108	PMID:15951480	PMID:15956353	PMID:16061850	PMID:16549446	PMID:16720713	PMID:17023519	PMID:17079137	PMID:17207990	PMID:17207994	PMID:17236759	PMID:17254772
PMID:17267208	PMID:17287116	PMID:17368179	PMID:17395559	PMID:17395703	PMID:17426122	PMID:17488797	PMID:17878529	PMID:17932346	PMID:18495603	PMID:18676680	PMID:18689381
PMID:18767073	PMID:18767934	PMID:18768522	PMID:18843020	PMID:19064572	PMID:19154546	PMID:19170196	PMID:19219539	PMID:19255064	PMID:19343046	PMID:19453261	PMID:19454612
PMID:19505920	PMID:19524013	PMID:19525955	PMID:19625176	PMID:19667158	PMID:19706847	PMID:19783860	PMID:19852851	PMID:19891555	PMID:19913121	PMID:19951419	PMID:19966181
PMID:19998245	PMID:20007432	PMID:20082271	PMID:20152900	PMID:20304056	PMID:20453000	PMID:20518841	PMID:20534770	PMID:20619365	PMID:20628086	PMID:20648053	PMID:20654748
PMID:20687218	PMID:20701904	PMID:20809279	PMID:20831823	PMID:20847308	PMID:20877624	PMID:21107545	PMID:21440908	PMID:21441443	PMID:21542014	PMID:21833088	PMID:21869486
PMID:21873635	PMID:22190362	PMID:22326730	PMID:22443290	PMID:22446158	PMID:22511602	PMID:22516854	PMID:22547098	PMID:22588163	PMID:22612324	PMID:22862690	PMID:22995334
PMID:23045480	PMID:23063903	PMID:23149444	PMID:23286944	PMID:23334593	PMID:23423976	PMID:23444327	PMID:23483640	PMID:23614044	PMID:23886824	PMID:23894780	PMID:24029861
PMID:24158849	PMID:24245571	PMID:24308945	PMID:24371450	PMID:24471562	PMID:24535953	PMID:24576880	PMID:24643654	PMID:25060765	PMID:25284246	PMID:25371233	PMID:25488826
PMID:25501638	PMID:25542806	PMID:25544771	PMID:26124321	PMID:26241700	PMID:26291067	PMID:26466946	PMID:26575398	PMID:26607259	PMID:27016371	PMID:27074284	PMID:27175669
PMID:27210415	PMID:27287609	PMID:27381199	PMID:27399352	PMID:27618536	PMID:27904983	PMID:27922682	PMID:27977320	PMID:28009432	PMID:28033387	PMID:28074193	PMID:28594127
PMID:28622535	PMID:28665452	PMID:28665937	PMID:28926322	PMID:29110708	PMID:29175129	PMID:29457277	PMID:29502202	PMID:29549592	PMID:30172168	PMID:30382318	PMID:30578920
PMID:30668811	PMID:30875612	PMID:30887870	PMID:30993743	PMID:31235702	PMID:31398293	PMID:31467173	PMID:31520221	PMID:31696245	PMID:32001361	PMID:32056782	PMID:32127688
PMID:32142934	PMID:32183826	PMID:32197412	PMID:32260235	PMID:32393512	PMID:32844632	PMID:32915988	PMID:32926064	PMID:32932410	PMID:33058307	PMID:33109593	PMID:33259013
PMID:33305962	PMID:33594806	PMID:33823104	PMID:33961781	PMID:33961971	PMID:34226633	PMID:34250710	PMID:34800366	PMID:34977256	PMID:35166042	PMID:35508323	PMID:36321535
PMID:36326421	PMID:36524979	PMID:37244301	PMID:38876405

Genomics

Comparative Map Data

CYP27B1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	57,762,334 - 57,767,078 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	57,762,334 - 57,768,986 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	58,156,117 - 58,160,861 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	56,442,384 - 56,447,243 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	56,442,385 - 56,447,151	NCBI
Celera	12	57,813,712 - 57,818,571 (-)	NCBI		Celera
Cytogenetic Map	12	q14.1	NCBI
HuRef	12	55,192,956 - 55,197,815 (-)	NCBI		HuRef
CHM1_1	12	58,123,921 - 58,128,780 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	12	57,730,683 - 57,735,427 (-)	NCBI		T2T-CHM13v2.0

Cyp27b1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	10	126,884,115 - 126,891,897 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	10	126,884,119 - 126,888,875 (+)	Ensembl		GRCm39 Ensembl
GRCm38	10	127,048,246 - 127,054,884 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	10	127,048,250 - 127,053,006 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	10	126,485,302 - 126,490,062 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	10	126,451,200 - 126,455,955 (+)	NCBI		MGSCv36	mm8
Celera	10	129,440,145 - 129,444,905 (+)	NCBI		Celera
Cytogenetic Map	10	D3	NCBI
cM Map	10	74.5	NCBI

Cyp27b1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	64,756,626 - 64,761,570 (+)	NCBI		GRCr8
mRatBN7.2	7	62,869,340 - 62,876,242 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	62,871,297 - 62,876,241 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	64,760,608 - 64,765,551 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	66,963,010 - 66,967,953 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	66,764,060 - 66,769,003 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	70,333,150 - 70,340,006 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	70,335,061 - 70,340,005 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	70,512,763 - 70,517,707 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Celera	7	60,014,507 - 60,019,451 (+)	NCBI		Celera
Cytogenetic Map	7	q22	NCBI

LOC102011841
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955458	5,472,404 - 5,477,001 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955458	5,472,404 - 5,477,001 (-)	NCBI	ChiLan1.0	ChiLan1.0

CYP27B1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	10	36,572,617 - 36,578,661 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	12	36,569,388 - 36,575,667 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	12	31,158,814 - 31,164,462 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	12	31,419,773 - 31,424,822 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	12	31,419,773 - 31,424,822 (+)	Ensembl	panpan1.1		panPan2

CYP27B1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	10	1,825,224 - 1,830,845 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	10	1,826,046 - 1,829,911 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	10	1,888,246 - 1,893,920 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	10	1,834,457 - 1,840,136 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	10	1,834,464 - 1,839,154 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	10	1,812,161 - 1,817,832 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	10	2,054,207 - 2,059,882 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	10	2,179,134 - 2,184,808 (-)	NCBI		UU_Cfam_GSD_1.0

LOC101978323
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404945	56,964,979 - 56,970,660 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936646	1,900,259 - 1,904,104 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936646	1,899,686 - 1,904,104 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CYP27B1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	23,053,892 - 23,058,470 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	23,053,129 - 23,058,865 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

CYP27B1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	11	53,675,704 - 53,681,372 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	11	53,675,226 - 53,680,443 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666037	192,280,050 - 192,285,176 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

LOC101700851
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624802	10,176,919 - 10,181,657 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624802	10,176,865 - 10,181,725 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in CYP27B1
389 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
CYP27B1, 7-BP DUP	duplication	Vitamin D-dependent rickets, type 1A [RCV000001732]	Chr12:12q13.1-q13.3	pathogenic
NM_000785.4(CYP27B1):c.589+1G>A	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV000001734]	Chr12:57765296 [GRCh38] Chr12:58159079 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.201_204delinsCTTCG (p.Gln67fs)	indel	Vitamin D-dependent rickets, type 1A [RCV000001737]\|not provided [RCV003764514]	Chr12:57766189..57766192 [GRCh38] Chr12:58159972..58159975 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.386+1G>A	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV000001738]	Chr12:57766006 [GRCh38] Chr12:58159789 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.320G>A (p.Arg107His)	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV000001725]\|Vitamin D-dependent rickets, type 1A [RCV001195100]	Chr12:57766073 [GRCh38] Chr12:58159856 [GRCh37] Chr12:12q14.1	pathogenic\|likely pathogenic
NM_000785.4(CYP27B1):c.374G>A (p.Gly125Glu)	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV000001726]	Chr12:57766019 [GRCh38] Chr12:58159802 [GRCh37] Chr12:12q14.1	pathogenic\|likely pathogenic
NM_000785.4(CYP27B1):c.1004G>C (p.Arg335Pro)	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV000001727]	Chr12:57764510 [GRCh38] Chr12:58158293 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.1144C>T (p.Pro382Ser)	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV000001728]\|not provided [RCV001851560]	Chr12:57764169 [GRCh38] Chr12:58157952 [GRCh37] Chr12:12q14.1	pathogenic\|uncertain significance
NM_000785.4(CYP27B1):c.631del (p.Glu211fs)	deletion	Vitamin D-dependent rickets, type 1A [RCV000001729]\|not provided [RCV003555888]	Chr12:57765170 [GRCh38] Chr12:58158953 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.693del (p.Thr232fs)	deletion	Vitamin D-dependent rickets, type 1A [RCV000001730]	Chr12:57765108 [GRCh38] Chr12:58158891 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.262del (p.Val88fs)	deletion	Vitamin D-dependent rickets, type 1A [RCV000001731]\|not provided [RCV000254925]	Chr12:57766131 [GRCh38] Chr12:58159914 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.962C>G (p.Thr321Arg)	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV000001733]	Chr12:57764755 [GRCh38] Chr12:58158538 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.1226C>T (p.Thr409Ile)	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV000001735]\|not provided [RCV001234461]	Chr12:57763798 [GRCh38] Chr12:58157581 [GRCh37] Chr12:12q14.1	pathogenic\|likely pathogenic
NM_000785.4(CYP27B1):c.1166G>A (p.Arg389His)	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV000001736]\|Vitamin D-dependent rickets, type 1A [RCV001195099]\|not provided [RCV000481523]	Chr12:57764147 [GRCh38] Chr12:58157930 [GRCh37] Chr12:12q14.1	pathogenic\|likely pathogenic
NM_000785.4(CYP27B1):c.1165C>G (p.Arg389Gly)	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV000001739]	Chr12:57764148 [GRCh38] Chr12:58157931 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.1027C>T (p.Leu343Phe)	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV000001740]	Chr12:57764487 [GRCh38] Chr12:58158270 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.566A>G (p.Glu189Gly)	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV000001741]	Chr12:57765320 [GRCh38] Chr12:58159103 [GRCh37] Chr12:12q14.1	pathogenic
GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	copy number loss	See cases [RCV000052813]	Chr12:57013355..63042498 [GRCh38] Chr12:57407139..63436278 [GRCh37] Chr12:55693406..61722545 [NCBI36] Chr12:12q13.3-14.2	pathogenic
GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1	copy number loss	See cases [RCV000052814]	Chr12:57041158..60273934 [GRCh38] Chr12:57434942..60667715 [GRCh37] Chr12:55721209..58953982 [NCBI36] Chr12:12q13.3-14.1	pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	copy number gain	See cases [RCV000139555]	Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	copy number gain	See cases [RCV000258805]	Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33	pathogenic\|likely pathogenic
NM_000785.4(CYP27B1):c.1286G>C (p.Arg429Pro)	single nucleotide variant	Multiple sclerosis, susceptibility to [RCV003987480]\|Vitamin D-dependent rickets, type 1A [RCV001329404]\|not provided [RCV000255484]	Chr12:57763738 [GRCh38] Chr12:58157521 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.*76G>A	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV000266794]	Chr12:57763066 [GRCh38] Chr12:58156849 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.*446G>A	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV000364545]	Chr12:57762696 [GRCh38] Chr12:58156479 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1057C>G (p.Pro353Ala)	single nucleotide variant	CYP27B1-related disorder [RCV003940184]\|Vitamin D-dependent rickets, type 1 [RCV000318208]\|Vitamin D-dependent rickets, type 1A [RCV002487368]\|not provided [RCV001373348]	Chr12:57764457 [GRCh38] Chr12:58158240 [GRCh37] Chr12:12q14.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000785.4(CYP27B1):c.*635G>A	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV000391373]	Chr12:57762507 [GRCh38] Chr12:58156290 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.426_428dup	duplication	Vitamin D-dependent rickets [RCV000269964]	Chr12:57762713..57762714 [GRCh38] Chr12:58156496..58156497 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1505A>G (p.Asn502Ser)	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV000321839]\|not provided [RCV001850635]	Chr12:57763164 [GRCh38] Chr12:58156947 [GRCh37] Chr12:12q14.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_000785.4(CYP27B1):c.-22C>G	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV000345491]	Chr12:57767063 [GRCh38] Chr12:58160846 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.348C>T (p.His116=)	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV000348837]\|not provided [RCV000907118]	Chr12:57766045 [GRCh38] Chr12:58159828 [GRCh37] Chr12:12q14.1	benign\|uncertain significance
NM_000785.4(CYP27B1):c.801C>T (p.His267=)	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV000372905]\|not provided [RCV002522242]	Chr12:57764916 [GRCh38] Chr12:58158699 [GRCh37] Chr12:12q14.1	likely benign\|uncertain significance
NM_000785.4(CYP27B1):c.40C>T (p.Arg14Cys)	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV000309324]\|Vitamin D-dependent rickets, type 1A [RCV002494963]\|not provided [RCV001859852]	Chr12:57767002 [GRCh38] Chr12:58160785 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.794A>T (p.Gln265Leu)	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV000278531]	Chr12:57764923 [GRCh38] Chr12:58158706 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.541G>T (p.Ala181Ser)	single nucleotide variant	Inborn genetic diseases [RCV002522243]\|Vitamin D-dependent rickets, type 1 [RCV000388320]\|Vitamin D-dependent rickets, type 1A [RCV002504069]\|not provided [RCV001850636]	Chr12:57765345 [GRCh38] Chr12:58159128 [GRCh37] Chr12:12q14.1	likely benign\|uncertain significance
NM_000785.4(CYP27B1):c.437T>A (p.Leu146His)	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV000294033]	Chr12:57765449 [GRCh38] Chr12:58159232 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.*301T>C	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV000306248]	Chr12:57762841 [GRCh38] Chr12:58156624 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.*722C>G	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV000349748]	Chr12:57762420 [GRCh38] Chr12:58156203 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.788T>G (p.Phe263Cys)	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV000352162]	Chr12:57765013 [GRCh38] Chr12:58158796 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs)	microsatellite	Inborn genetic diseases [RCV001267045]\|Vitamin D-dependent rickets, type 1 [RCV001028038]\|Vitamin D-dependent rickets, type 1A [RCV001808725]\|not provided [RCV000271425]	Chr12:57763698..57763699 [GRCh38] Chr12:58157481..58157482 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.*472C>A	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV000309907]	Chr12:57762670 [GRCh38] Chr12:58156453 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1385A>T (p.Glu462Val)	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV000376617]	Chr12:57763639 [GRCh38] Chr12:58157422 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.*295G>A	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV000360997]	Chr12:57762847 [GRCh38] Chr12:58156630 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1375C>T (p.Arg459Cys)	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV000626155]\|not provided [RCV001860473]	Chr12:57763649 [GRCh38] Chr12:58157432 [GRCh37] Chr12:12q14.1	pathogenic\|likely pathogenic
NM_000785.4(CYP27B1):c.171dup (p.Leu58fs)	duplication	Vitamin D-dependent rickets, type 1A [RCV001843547]\|not provided [RCV000731471]	Chr12:57766870..57766871 [GRCh38] Chr12:58160653..58160654 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.305G>A (p.Gly102Glu)	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV000723316]\|not provided [RCV000443114]	Chr12:57766088 [GRCh38] Chr12:58159871 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.373G>A (p.Gly125Arg)	single nucleotide variant	not provided [RCV000498710]	Chr12:57766020 [GRCh38] Chr12:58159803 [GRCh37] Chr12:12q14.1	likely pathogenic
NC_000012.12:g.57768302G>T	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV003318421]	Chr12:57768302 [GRCh38] Chr12:58162085 [GRCh37] Chr12:12q14.1	likely risk allele
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3	copy number gain	not provided [RCV000750246]	Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3	copy number gain	not provided [RCV000750253]	Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
NM_000785.4(CYP27B1):c.1395G>A (p.Leu465=)	single nucleotide variant	not provided [RCV000938712]	Chr12:57763629 [GRCh38] Chr12:58157412 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1414-95C>T	single nucleotide variant	not provided [RCV001724575]	Chr12:57763350 [GRCh38] Chr12:58157133 [GRCh37] Chr12:12q14.1	benign
NM_000785.4(CYP27B1):c.*143G>A	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV001115132]	Chr12:57762999 [GRCh38] Chr12:58156782 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.*415G>A	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV001115128]	Chr12:57762727 [GRCh38] Chr12:58156510 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.102C>G (p.Arg34=)	single nucleotide variant	not provided [RCV000882799]	Chr12:57766940 [GRCh38] Chr12:58160723 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.402G>C (p.Trp134Cys)	single nucleotide variant	not provided [RCV001035234]	Chr12:57765484 [GRCh38] Chr12:58159267 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.750G>A (p.Trp250Ter)	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV000779109]\|not provided [RCV001390770]	Chr12:57765051 [GRCh38] Chr12:58158834 [GRCh37] Chr12:12q14.1	pathogenic\|uncertain significance
NM_000785.4(CYP27B1):c.*215G>C	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV001115131]	Chr12:57762927 [GRCh38] Chr12:58156710 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.*329T>C	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV001115130]	Chr12:57762813 [GRCh38] Chr12:58156596 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.*345T>C	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV001115129]	Chr12:57762797 [GRCh38] Chr12:58156580 [GRCh37] Chr12:12q14.1	uncertain significance
GRCh37/hg19 12q13.3-14.1(chr12:57582163-59031979)x1	copy number loss	not provided [RCV001006506]	Chr12:57582163..59031979 [GRCh37] Chr12:12q13.3-14.1	likely pathogenic
NM_000785.4(CYP27B1):c.318G>A (p.Glu106=)	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV001112265]\|not provided [RCV003727862]	Chr12:57766075 [GRCh38] Chr12:58159858 [GRCh37] Chr12:12q14.1	likely benign\|uncertain significance
NM_000785.4(CYP27B1):c.*764T>A	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV001112167]	Chr12:57762378 [GRCh38] Chr12:58156161 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1357C>T (p.Arg453Cys)	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV000988872]\|Vitamin D-dependent rickets, type 1A [RCV002479154]	Chr12:57763667 [GRCh38] Chr12:58157450 [GRCh37] Chr12:12q14.1	pathogenic\|likely pathogenic
NM_000785.4(CYP27B1):c.454G>A (p.Ala152Thr)	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV001111796]\|Vitamin D-dependent rickets, type 1A [RCV002505685]	Chr12:57765432 [GRCh38] Chr12:58159215 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.96dup (p.Ala33fs)	duplication	not provided [RCV001234462]	Chr12:57766945..57766946 [GRCh38] Chr12:58160728..58160729 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.448G>A (p.Ala150Thr)	single nucleotide variant	Inborn genetic diseases [RCV003269769]	Chr12:57765438 [GRCh38] Chr12:58159221 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.497_500del (p.Val166fs)	deletion	Vitamin D-dependent rickets, type 1A [RCV001614475]	Chr12:57765386..57765389 [GRCh38] Chr12:58159169..58159172 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.1286G>A (p.Arg429His)	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV001109504]\|Vitamin D-dependent rickets, type 1A [RCV003313988]	Chr12:57763738 [GRCh38] Chr12:58157521 [GRCh37] Chr12:12q14.1	likely pathogenic\|uncertain significance
NC_000012.11:g.(?_58156925)_(58157058_?)dup	duplication	not provided [RCV003105329]	Chr12:58156925..58157058 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.387-160G>A	single nucleotide variant	not provided [RCV001577225]	Chr12:57765659 [GRCh38] Chr12:58159442 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1052T>A (p.Leu351Gln)	single nucleotide variant	Inborn genetic diseases [RCV003275203]	Chr12:57764462 [GRCh38] Chr12:58158245 [GRCh37] Chr12:12q14.1	uncertain significance
NC_000012.12:g.57767202T>A	single nucleotide variant	not provided [RCV001535046]	Chr12:57767202 [GRCh38] Chr12:58160985 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.387-39C>A	single nucleotide variant	not provided [RCV001654832]	Chr12:57765538 [GRCh38] Chr12:58159321 [GRCh37] Chr12:12q14.1	benign
NM_000785.4(CYP27B1):c.372C>T (p.Cys124=)	single nucleotide variant	not provided [RCV000909902]	Chr12:57766021 [GRCh38] Chr12:58159804 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1414-6T>C	single nucleotide variant	not provided [RCV000907994]	Chr12:57763261 [GRCh38] Chr12:58157044 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.385G>A (p.Ala129Thr)	single nucleotide variant	CYP27B1-related disorder [RCV003910674]\|not provided [RCV000896271]	Chr12:57766008 [GRCh38] Chr12:58159791 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.387-8C>A	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV002505379]\|not provided [RCV000929903]	Chr12:57765507 [GRCh38] Chr12:58159290 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.463_464dup (p.Gly156fs)	duplication	Vitamin D-dependent rickets, type 1A [RCV001780910]	Chr12:57765421..57765422 [GRCh38] Chr12:58159204..58159205 [GRCh37] Chr12:12q14.1	likely pathogenic
NM_000785.4(CYP27B1):c.496G>C (p.Val166Leu)	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV001111795]\|not provided [RCV001512295]	Chr12:57765390 [GRCh38] Chr12:58159173 [GRCh37] Chr12:12q14.1	benign
NM_000785.4(CYP27B1):c.1040T>A (p.Ile347Asn)	single nucleotide variant	not provided [RCV001227711]	Chr12:57764474 [GRCh38] Chr12:58158257 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.196-2A>G	single nucleotide variant	not provided [RCV001227842]	Chr12:57766199 [GRCh38] Chr12:58159982 [GRCh37] Chr12:12q14.1	likely pathogenic
NM_000785.4(CYP27B1):c.791-7C>G	single nucleotide variant	not provided [RCV001055048]	Chr12:57764933 [GRCh38] Chr12:58158716 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1474C>T (p.Arg492Trp)	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV002479372]\|not provided [RCV001063199]	Chr12:57763195 [GRCh38] Chr12:58156978 [GRCh37] Chr12:12q14.1	pathogenic\|likely pathogenic
NM_000785.4(CYP27B1):c.584T>A (p.Leu195Gln)	single nucleotide variant	not provided [RCV001244022]	Chr12:57765302 [GRCh38] Chr12:58159085 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1452G>A (p.Ala484=)	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV002495513]\|not provided [RCV000913922]	Chr12:57763217 [GRCh38] Chr12:58157000 [GRCh37] Chr12:12q14.1	benign\|likely benign
NM_000785.4(CYP27B1):c.1413+113A>C	single nucleotide variant	not provided [RCV001675497]	Chr12:57763498 [GRCh38] Chr12:58157281 [GRCh37] Chr12:12q14.1	benign
GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	copy number gain	not provided [RCV001006505]	Chr12:55552371..62126304 [GRCh37] Chr12:12q13.2-14.1	pathogenic
NM_000785.4(CYP27B1):c.*426T>C	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV001112168]	Chr12:57762716 [GRCh38] Chr12:58156499 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.626G>C (p.Cys209Ser)	single nucleotide variant	Inborn genetic diseases [RCV004033241]\|not provided [RCV001234408]	Chr12:57765175 [GRCh38] Chr12:58158958 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.117C>T (p.Asp39=)	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV001112266]\|not provided [RCV003708567]	Chr12:57766925 [GRCh38] Chr12:58160708 [GRCh37] Chr12:12q14.1	likely benign\|uncertain significance
NM_000785.4(CYP27B1):c.-8_4dup (p.Met1_Thr2insAsnGlnThrMet)	duplication	not provided [RCV001207979]	Chr12:57767037..57767038 [GRCh38] Chr12:58160820..58160821 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.96_97del (p.Ala33fs)	deletion	not provided [RCV001046615]	Chr12:57766945..57766946 [GRCh38] Chr12:58160728..58160729 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.*77G>A	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV001115133]	Chr12:57763065 [GRCh38] Chr12:58156848 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.41G>A (p.Arg14His)	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV002484091]\|not provided [RCV001203041]	Chr12:57767001 [GRCh38] Chr12:58160784 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.265_270del (p.Ala89_Ala90del)	deletion	not provided [RCV001216442]	Chr12:57766123..57766128 [GRCh38] Chr12:58159906..58159911 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1230G>C (p.Leu410=)	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV001109505]\|not provided [RCV003708565]	Chr12:57763794 [GRCh38] Chr12:58157577 [GRCh37] Chr12:12q14.1	likely benign\|uncertain significance
NM_000785.4(CYP27B1):c.942G>A (p.Leu314=)	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV001109506]\|not provided [RCV001518572]	Chr12:57764775 [GRCh38] Chr12:58158558 [GRCh37] Chr12:12q14.1	benign\|likely benign
NM_000785.4(CYP27B1):c.217_220del (p.Gly73fs)	deletion	Vitamin D-dependent rickets type 1A [RCV001329405]	Chr12:57766173..57766176 [GRCh38] Chr12:58159956..58159959 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.1340C>T (p.Pro447Leu)	single nucleotide variant	not provided [RCV001340929]	Chr12:57763684 [GRCh38] Chr12:58157467 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.413G>T (p.Arg138Leu)	single nucleotide variant	not provided [RCV001315767]	Chr12:57765473 [GRCh38] Chr12:58159256 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1376G>A (p.Arg459His)	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV001823195]\|not provided [RCV001304461]	Chr12:57763648 [GRCh38] Chr12:58157431 [GRCh37] Chr12:12q14.1	likely pathogenic\|uncertain significance
NM_000785.4(CYP27B1):c.690G>A (p.Val230=)	single nucleotide variant	CYP27B1-related disorder [RCV003973256]\|Vitamin D-dependent rickets, type 1A [RCV002504693]\|not provided [RCV001415018]	Chr12:57765111 [GRCh38] Chr12:58158894 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1113G>A (p.Lys371=)	single nucleotide variant	not provided [RCV001295909]	Chr12:57764401 [GRCh38] Chr12:58158184 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1378del (p.Leu460fs)	deletion	Vitamin D-dependent rickets type 1A [RCV001336989]	Chr12:57763646 [GRCh38] Chr12:58157429 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.1198T>G (p.Tyr400Asp)	single nucleotide variant	not provided [RCV001297431]	Chr12:57764115 [GRCh38] Chr12:58157898 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.388G>A (p.Glu130Lys)	single nucleotide variant	not provided [RCV001367121]	Chr12:57765498 [GRCh38] Chr12:58159281 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1290_1294dup (p.Arg432fs)	duplication	not provided [RCV001384645]	Chr12:57763729..57763730 [GRCh38] Chr12:58157512..58157513 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.330C>T (p.Phe110=)	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV002506614]\|not provided [RCV001516250]	Chr12:57766063 [GRCh38] Chr12:58159846 [GRCh37] Chr12:12q14.1	benign\|likely benign
NM_000785.4(CYP27B1):c.160_161dup (p.Lys55fs)	duplication	not provided [RCV001380894]	Chr12:57766880..57766881 [GRCh38] Chr12:58160663..58160664 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.51G>A (p.Trp17Ter)	single nucleotide variant	not provided [RCV001388293]	Chr12:57766991 [GRCh38] Chr12:58160774 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.531G>T (p.Thr177=)	single nucleotide variant	not provided [RCV001431595]	Chr12:57765355 [GRCh38] Chr12:58159138 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.609C>T (p.Leu203=)	single nucleotide variant	not provided [RCV001489942]	Chr12:57765192 [GRCh38] Chr12:58158975 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1358G>T (p.Arg453Leu)	single nucleotide variant	not provided [RCV001378186]	Chr12:57763666 [GRCh38] Chr12:58157449 [GRCh37] Chr12:12q14.1	likely pathogenic
NM_000785.4(CYP27B1):c.428C>T (p.Pro143Leu)	single nucleotide variant	not provided [RCV001379078]	Chr12:57765458 [GRCh38] Chr12:58159241 [GRCh37] Chr12:12q14.1	likely pathogenic
NM_000785.4(CYP27B1):c.1388T>C (p.Leu463Pro)	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV002251272]	Chr12:57763636 [GRCh38] Chr12:58157419 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1349_1376del (p.Phe450fs)	deletion	Vitamin D-dependent rickets, type 1A [RCV001780912]	Chr12:57763648..57763675 [GRCh38] Chr12:58157431..58157458 [GRCh37] Chr12:12q14.1	likely pathogenic
NM_000785.4(CYP27B1):c.403C>T (p.Gln135Ter)	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV001780604]	Chr12:57765483 [GRCh38] Chr12:58159266 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.1232G>A (p.Cys411Tyr)	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV001843693]	Chr12:57763792 [GRCh38] Chr12:58157575 [GRCh37] Chr12:12q14.1	likely pathogenic
NM_000785.4(CYP27B1):c.590-9_656delinsAGGG	indel	not provided [RCV001988544]	Chr12:57765145..57765220 [GRCh38] Chr12:58158928..58159003 [GRCh37] Chr12:12q14.1	likely pathogenic
NM_000785.4(CYP27B1):c.986C>T (p.Ala329Val)	single nucleotide variant	not provided [RCV002039957]	Chr12:57764528 [GRCh38] Chr12:58158311 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.413G>A (p.Arg138His)	single nucleotide variant	not provided [RCV001985061]	Chr12:57765473 [GRCh38] Chr12:58159256 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.623G>T (p.Gly208Val)	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV001843329]	Chr12:57765178 [GRCh38] Chr12:58158961 [GRCh37] Chr12:12q14.1	likely pathogenic
NM_000785.4(CYP27B1):c.1174_1177del (p.Asp392fs)	deletion	not provided [RCV001913989]	Chr12:57764136..57764139 [GRCh38] Chr12:58157919..58157922 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.170G>T (p.Gly57Val)	single nucleotide variant	not provided [RCV001949260]	Chr12:57766872 [GRCh38] Chr12:58160655 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.386C>T (p.Ala129Val)	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV001843328]	Chr12:57766007 [GRCh38] Chr12:58159790 [GRCh37] Chr12:12q14.1	likely pathogenic
NM_000785.4(CYP27B1):c.1160A>C (p.Asn387Thr)	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV001843330]	Chr12:57764153 [GRCh38] Chr12:58157936 [GRCh37] Chr12:12q14.1	likely pathogenic
NM_000785.4(CYP27B1):c.164A>T (p.Lys55Met)	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV003333774]\|not provided [RCV001966315]	Chr12:57766878 [GRCh38] Chr12:58160661 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.547G>C (p.Val183Leu)	single nucleotide variant	Inborn genetic diseases [RCV002545295]\|not provided [RCV002037613]	Chr12:57765339 [GRCh38] Chr12:58159122 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.511C>T (p.Arg171Cys)	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV002492063]\|not provided [RCV001955711]	Chr12:57765375 [GRCh38] Chr12:58159158 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.974C>T (p.Thr325Met)	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV002266018]\|not provided [RCV001869609]	Chr12:57764540 [GRCh38] Chr12:58158323 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1215+5G>A	single nucleotide variant	not provided [RCV001916782]	Chr12:57764093 [GRCh38] Chr12:58157876 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.341C>G (p.Thr114Arg)	single nucleotide variant	not provided [RCV002012335]	Chr12:57766052 [GRCh38] Chr12:58159835 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1216-1G>C	single nucleotide variant	not provided [RCV001953747]	Chr12:57763809 [GRCh38] Chr12:58157592 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.1166_1170dup (p.Pro391fs)	duplication	not provided [RCV001875717]	Chr12:57764142..57764143 [GRCh38] Chr12:58157925..58157926 [GRCh37] Chr12:12q14.1	pathogenic
NC_000012.11:g.(?_57881874)_(58190366_?)dup	duplication	not provided [RCV001916382]	Chr12:57881874..58190366 [GRCh37] Chr12:12q13.3-14.1	uncertain significance
NM_000785.4(CYP27B1):c.386+14G>A	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV002505790]\|not provided [RCV002126263]	Chr12:57765993 [GRCh38] Chr12:58159776 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1215+20C>T	single nucleotide variant	not provided [RCV002128809]	Chr12:57764078 [GRCh38] Chr12:58157861 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.669C>A (p.Arg223=)	single nucleotide variant	not provided [RCV002189849]	Chr12:57765132 [GRCh38] Chr12:58158915 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.386+14G>T	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV002479878]\|not provided [RCV002212548]	Chr12:57765993 [GRCh38] Chr12:58159776 [GRCh37] Chr12:12q14.1	benign
NM_000785.4(CYP27B1):c.645A>G (p.Pro215=)	single nucleotide variant	not provided [RCV002133630]	Chr12:57765156 [GRCh38] Chr12:58158939 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.791-16C>T	single nucleotide variant	not provided [RCV002079860]	Chr12:57764942 [GRCh38] Chr12:58158725 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.933G>C (p.Val311=)	single nucleotide variant	not provided [RCV002202501]	Chr12:57764784 [GRCh38] Chr12:58158567 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.981T>C (p.Ser327=)	single nucleotide variant	not provided [RCV002217518]	Chr12:57764533 [GRCh38] Chr12:58158316 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1216-18T>G	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV002500224]\|not provided [RCV002119036]	Chr12:57763826 [GRCh38] Chr12:58157609 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.791-5C>T	single nucleotide variant	not provided [RCV003115333]	Chr12:57764931 [GRCh38] Chr12:58158714 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.167G>A (p.Gly56Glu)	single nucleotide variant	not provided [RCV003115944]	Chr12:57766875 [GRCh38] Chr12:58160658 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1320C>T (p.Pro440=)	single nucleotide variant	not provided [RCV003121273]	Chr12:57763704 [GRCh38] Chr12:58157487 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.358C>A (p.Arg120Ser)	single nucleotide variant	not provided [RCV003118956]	Chr12:57766035 [GRCh38] Chr12:58159818 [GRCh37] Chr12:12q14.1	uncertain significance
NC_000012.11:g.(?_58144419)_(58160824_?)dup	duplication	Familial melanoma [RCV003119255]	Chr12:58144419..58160824 [GRCh37] Chr12:12q14.1	uncertain significance
NC_000012.11:g.(?_57534470)_(58190366_?)dup	duplication	Familial melanoma [RCV003119257]	Chr12:57534470..58190366 [GRCh37] Chr12:12q13.3-14.1	uncertain significance
NM_000785.4(CYP27B1):c.463G>T (p.Ala155Ser)	single nucleotide variant	Inborn genetic diseases [RCV004608447]	Chr12:57765423 [GRCh38] Chr12:58159206 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.252_262del (p.Thr85fs)	deletion	Vitamin D-dependent rickets, type 1A [RCV002249854]	Chr12:57766131..57766141 [GRCh38] Chr12:58159914..58159924 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.335C>T (p.Pro112Leu)	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV002284044]	Chr12:57766058 [GRCh38] Chr12:58159841 [GRCh37] Chr12:12q14.1	likely pathogenic
NM_000785.4(CYP27B1):c.704C>A (p.Thr235Asn)	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV003492753]\|not provided [RCV002288096]	Chr12:57765097 [GRCh38] Chr12:58158880 [GRCh37] Chr12:12q14.1	uncertain significance
GRCh37/hg19 12q13.3-14.1(chr12:57631073-58236597)x1	copy number loss	not provided [RCV002474565]	Chr12:57631073..58236597 [GRCh37] Chr12:12q13.3-14.1	likely pathogenic
NM_000785.4(CYP27B1):c.163A>G (p.Lys55Glu)	single nucleotide variant	not provided [RCV002301257]	Chr12:57766879 [GRCh38] Chr12:58160662 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1190T>C (p.Val397Ala)	single nucleotide variant	not provided [RCV002301207]	Chr12:57764123 [GRCh38] Chr12:58157906 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.628C>A (p.Leu210Met)	single nucleotide variant	not provided [RCV002296849]	Chr12:57765173 [GRCh38] Chr12:58158956 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.614C>G (p.Ser205Trp)	single nucleotide variant	not provided [RCV002296850]	Chr12:57765187 [GRCh38] Chr12:58158970 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.707T>C (p.Met236Thr)	single nucleotide variant	Inborn genetic diseases [RCV002907286]	Chr12:57765094 [GRCh38] Chr12:58158877 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.609C>A (p.Leu203=)	single nucleotide variant	not provided [RCV002862999]	Chr12:57765192 [GRCh38] Chr12:58158975 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.733C>T (p.Leu245Phe)	single nucleotide variant	not provided [RCV003034857]	Chr12:57765068 [GRCh38] Chr12:58158851 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.230T>C (p.Leu77Pro)	single nucleotide variant	not provided [RCV002731127]	Chr12:57766163 [GRCh38] Chr12:58159946 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.346C>G (p.His116Asp)	single nucleotide variant	not provided [RCV002616690]	Chr12:57766047 [GRCh38] Chr12:58159830 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1266C>T (p.Phe422=)	single nucleotide variant	not provided [RCV002994170]	Chr12:57763758 [GRCh38] Chr12:58157541 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.855G>A (p.Lys285=)	single nucleotide variant	not provided [RCV002971871]	Chr12:57764862 [GRCh38] Chr12:58158645 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.580G>A (p.Gly194Arg)	single nucleotide variant	not provided [RCV003074962]	Chr12:57765306 [GRCh38] Chr12:58159089 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1295G>A (p.Arg432His)	single nucleotide variant	Inborn genetic diseases [RCV002997182]	Chr12:57763729 [GRCh38] Chr12:58157512 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.531G>A (p.Thr177=)	single nucleotide variant	not provided [RCV002569875]	Chr12:57765355 [GRCh38] Chr12:58159138 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.744G>A (p.Gly248=)	single nucleotide variant	not provided [RCV002785817]	Chr12:57765057 [GRCh38] Chr12:58158840 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1137-6A>G	single nucleotide variant	not provided [RCV002889910]	Chr12:57764182 [GRCh38] Chr12:58157965 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.386+6T>C	single nucleotide variant	not provided [RCV003038210]	Chr12:57766001 [GRCh38] Chr12:58159784 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.850G>A (p.Glu284Lys)	single nucleotide variant	not provided [RCV003035681]	Chr12:57764867 [GRCh38] Chr12:58158650 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1215+5del	deletion	not provided [RCV003053718]	Chr12:57764093 [GRCh38] Chr12:58157876 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.715C>A (p.Pro239Thr)	single nucleotide variant	not provided [RCV003037936]	Chr12:57765086 [GRCh38] Chr12:58158869 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.347A>G (p.His116Arg)	single nucleotide variant	not provided [RCV003018818]	Chr12:57766046 [GRCh38] Chr12:58159829 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1517T>G (p.Leu506Trp)	single nucleotide variant	not provided [RCV003021502]	Chr12:57763152 [GRCh38] Chr12:58156935 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1094C>T (p.Ser365Phe)	single nucleotide variant	not provided [RCV002620604]	Chr12:57764420 [GRCh38] Chr12:58158203 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.405A>T (p.Gln135His)	single nucleotide variant	not provided [RCV003001974]	Chr12:57765481 [GRCh38] Chr12:58159264 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1052T>G (p.Leu351Arg)	single nucleotide variant	Inborn genetic diseases [RCV002980219]	Chr12:57764462 [GRCh38] Chr12:58158245 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.590-11C>G	single nucleotide variant	not provided [RCV003036333]	Chr12:57765222 [GRCh38] Chr12:58159005 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.171del (p.Leu58fs)	deletion	not provided [RCV002622191]	Chr12:57766871 [GRCh38] Chr12:58160654 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.990G>A (p.Leu330=)	single nucleotide variant	not provided [RCV002795151]	Chr12:57764524 [GRCh38] Chr12:58158307 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1136+9G>T	single nucleotide variant	not provided [RCV002642552]	Chr12:57764369 [GRCh38] Chr12:58158152 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.812G>T (p.Arg271Leu)	single nucleotide variant	not provided [RCV002667629]	Chr12:57764905 [GRCh38] Chr12:58158688 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.764G>A (p.Arg255Gln)	single nucleotide variant	not provided [RCV002576408]	Chr12:57765037 [GRCh38] Chr12:58158820 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1364G>A (p.Cys455Tyr)	single nucleotide variant	not provided [RCV003022149]	Chr12:57763660 [GRCh38] Chr12:58157443 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.463G>A (p.Ala155Thr)	single nucleotide variant	not provided [RCV002710186]	Chr12:57765423 [GRCh38] Chr12:58159206 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.274G>A (p.Ala92Thr)	single nucleotide variant	not provided [RCV002983026]	Chr12:57766119 [GRCh38] Chr12:58159902 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.657G>C (p.Glu219Asp)	single nucleotide variant	not provided [RCV002623462]	Chr12:57765144 [GRCh38] Chr12:58158927 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1136+15G>A	single nucleotide variant	not provided [RCV002572240]	Chr12:57764363 [GRCh38] Chr12:58158146 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1136+1G>T	single nucleotide variant	not provided [RCV003041160]	Chr12:57764377 [GRCh38] Chr12:58158160 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.289_303del (p.Leu97_Glu101del)	deletion	not provided [RCV003058386]	Chr12:57766090..57766104 [GRCh38] Chr12:58159873..58159887 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1057C>T (p.Pro353Ser)	single nucleotide variant	not provided [RCV002667850]	Chr12:57764457 [GRCh38] Chr12:58158240 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1121T>C (p.Val374Ala)	single nucleotide variant	not provided [RCV003041161]	Chr12:57764393 [GRCh38] Chr12:58158176 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1512G>A (p.Gln504=)	single nucleotide variant	not provided [RCV002667262]	Chr12:57763157 [GRCh38] Chr12:58156940 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.466G>T (p.Gly156Ter)	single nucleotide variant	not provided [RCV003024637]	Chr12:57765420 [GRCh38] Chr12:58159203 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.1086T>A (p.Thr362=)	single nucleotide variant	not provided [RCV002596330]	Chr12:57764428 [GRCh38] Chr12:58158211 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.200A>G (p.Gln67Arg)	single nucleotide variant	Inborn genetic diseases [RCV002873881]	Chr12:57766193 [GRCh38] Chr12:58159976 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1475G>C (p.Arg492Pro)	single nucleotide variant	Inborn genetic diseases [RCV002743362]\|not provided [RCV003561092]	Chr12:57763194 [GRCh38] Chr12:58156977 [GRCh37] Chr12:12q14.1	likely pathogenic\|uncertain significance
NM_000785.4(CYP27B1):c.568T>C (p.Phe190Leu)	single nucleotide variant	not provided [RCV003028093]	Chr12:57765318 [GRCh38] Chr12:58159101 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1499G>A (p.Ser500Asn)	single nucleotide variant	not provided [RCV003088109]	Chr12:57763170 [GRCh38] Chr12:58156953 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.310C>T (p.Arg104Trp)	single nucleotide variant	Inborn genetic diseases [RCV003250786]\|not provided [RCV002602768]	Chr12:57766083 [GRCh38] Chr12:58159866 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1219C>T (p.Leu407=)	single nucleotide variant	not provided [RCV002627489]	Chr12:57763805 [GRCh38] Chr12:58157588 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.195+13_195+26del	deletion	not provided [RCV002577262]	Chr12:57766821..57766834 [GRCh38] Chr12:58160604..58160617 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.651C>A (p.Asp217Glu)	single nucleotide variant	Inborn genetic diseases [RCV002959310]	Chr12:57765150 [GRCh38] Chr12:58158933 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.963G>T (p.Thr321=)	single nucleotide variant	Inborn genetic diseases [RCV002922273]\|not provided [RCV002922272]	Chr12:57764754 [GRCh38] Chr12:58158537 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.945A>G (p.Leu315=)	single nucleotide variant	not provided [RCV003009251]	Chr12:57764772 [GRCh38] Chr12:58158555 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.311G>A (p.Arg104Gln)	single nucleotide variant	not provided [RCV002715601]	Chr12:57766082 [GRCh38] Chr12:58159865 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1215+12C>A	single nucleotide variant	not provided [RCV002834700]	Chr12:57764086 [GRCh38] Chr12:58157869 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.361C>T (p.Gln121Ter)	single nucleotide variant	not provided [RCV002670823]	Chr12:57766032 [GRCh38] Chr12:58159815 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.1108C>A (p.Leu370Met)	single nucleotide variant	Inborn genetic diseases [RCV004064979]\|not provided [RCV002857478]	Chr12:57764406 [GRCh38] Chr12:58158189 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.500G>C (p.Arg167Pro)	single nucleotide variant	Inborn genetic diseases [RCV002963497]	Chr12:57765386 [GRCh38] Chr12:58159169 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.358C>T (p.Arg120Cys)	single nucleotide variant	not provided [RCV002671700]	Chr12:57766035 [GRCh38] Chr12:58159818 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.309C>T (p.Pro103=)	single nucleotide variant	not provided [RCV003086661]	Chr12:57766084 [GRCh38] Chr12:58159867 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.148G>A (p.Ala50Thr)	single nucleotide variant	Inborn genetic diseases [RCV002670801]\|not provided [RCV002647170]	Chr12:57766894 [GRCh38] Chr12:58160677 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.196-20C>T	single nucleotide variant	not provided [RCV002630346]	Chr12:57766217 [GRCh38] Chr12:58160000 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1318C>T (p.Pro440Ser)	single nucleotide variant	Inborn genetic diseases [RCV002940293]	Chr12:57763706 [GRCh38] Chr12:58157489 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.364C>A (p.Arg122=)	single nucleotide variant	not provided [RCV002649468]	Chr12:57766029 [GRCh38] Chr12:58159812 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.939G>C (p.Glu313Asp)	single nucleotide variant	not provided [RCV002635339]	Chr12:57764778 [GRCh38] Chr12:58158561 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1116G>A (p.Ala372=)	single nucleotide variant	not provided [RCV002942295]	Chr12:57764398 [GRCh38] Chr12:58158181 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.328T>C (p.Phe110Leu)	single nucleotide variant	not provided [RCV002609184]	Chr12:57766065 [GRCh38] Chr12:58159848 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1136+5G>C	single nucleotide variant	not provided [RCV002607513]	Chr12:57764373 [GRCh38] Chr12:58158156 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1217C>T (p.Thr406Met)	single nucleotide variant	not provided [RCV002657933]	Chr12:57763807 [GRCh38] Chr12:58157590 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.66C>T (p.Gly22=)	single nucleotide variant	not provided [RCV002610653]	Chr12:57766976 [GRCh38] Chr12:58160759 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1248A>G (p.Ser416=)	single nucleotide variant	not provided [RCV002610789]	Chr12:57763776 [GRCh38] Chr12:58157559 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.670G>T (p.Ala224Ser)	single nucleotide variant	not provided [RCV002603441]	Chr12:57765131 [GRCh38] Chr12:58158914 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.43G>A (p.Val15Ile)	single nucleotide variant	not provided [RCV002586052]	Chr12:57766999 [GRCh38] Chr12:58160782 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.781T>G (p.Phe261Val)	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV003223460]	Chr12:57765020 [GRCh38] Chr12:58158803 [GRCh37] Chr12:12q14.1	uncertain significance
GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1	copy number loss	not provided [RCV003222783]	Chr12:57064059..59314016 [GRCh37] Chr12:12q13.3-14.1	likely pathogenic
NM_000785.4(CYP27B1):c.1358G>A (p.Arg453His)	single nucleotide variant	CYP27B1-related disorder [RCV003417870]\|not provided [RCV003556305]\|not specified [RCV003226270]	Chr12:57763666 [GRCh38] Chr12:58157449 [GRCh37] Chr12:12q14.1	likely pathogenic\|uncertain significance
NM_000785.4(CYP27B1):c.1136+20G>A	single nucleotide variant	not provided [RCV003712632]	Chr12:57764358 [GRCh38] Chr12:58158141 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1413+16T>G	single nucleotide variant	not provided [RCV003571455]	Chr12:57763595 [GRCh38] Chr12:58157378 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1136+17G>A	single nucleotide variant	not provided [RCV003712532]	Chr12:57764361 [GRCh38] Chr12:58158144 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1140G>A (p.Leu380=)	single nucleotide variant	not provided [RCV003543690]	Chr12:57764173 [GRCh38] Chr12:58157956 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.66C>A (p.Gly22=)	single nucleotide variant	not provided [RCV003874394]	Chr12:57766976 [GRCh38] Chr12:58160759 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.984G>A (p.Trp328Ter)	single nucleotide variant	not provided [RCV003686450]	Chr12:57764530 [GRCh38] Chr12:58158313 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.779T>G (p.Met260Arg)	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV003388969]\|not provided [RCV003549081]	Chr12:57765022 [GRCh38] Chr12:58158805 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1284T>C (p.Phe428=)	single nucleotide variant	not provided [RCV003662655]	Chr12:57763740 [GRCh38] Chr12:58157523 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1136+18G>A	single nucleotide variant	not provided [RCV003881009]	Chr12:57764360 [GRCh38] Chr12:58158143 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.129C>T (p.Pro43=)	single nucleotide variant	not provided [RCV003882465]	Chr12:57766913 [GRCh38] Chr12:58160696 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1305G>A (p.Gly435=)	single nucleotide variant	not provided [RCV003690564]	Chr12:57763719 [GRCh38] Chr12:58157502 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.498G>A (p.Val166=)	single nucleotide variant	not provided [RCV003576942]	Chr12:57765388 [GRCh38] Chr12:58159171 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1146T>C (p.Pro382=)	single nucleotide variant	not provided [RCV003578178]	Chr12:57764167 [GRCh38] Chr12:58157950 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1215+10G>A	single nucleotide variant	not provided [RCV003696460]	Chr12:57764088 [GRCh38] Chr12:58157871 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.196-12C>T	single nucleotide variant	not provided [RCV003696471]	Chr12:57766209 [GRCh38] Chr12:58159992 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1479T>A (p.Thr493=)	single nucleotide variant	not provided [RCV003575771]	Chr12:57763190 [GRCh38] Chr12:58156973 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.600G>A (p.Ala200=)	single nucleotide variant	not provided [RCV003692532]	Chr12:57765201 [GRCh38] Chr12:58158984 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1392A>G (p.Glu464=)	single nucleotide variant	not provided [RCV003578570]	Chr12:57763632 [GRCh38] Chr12:58157415 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.590-1G>A	single nucleotide variant	not provided [RCV003716572]	Chr12:57765212 [GRCh38] Chr12:58158995 [GRCh37] Chr12:12q14.1	likely pathogenic
NM_000785.4(CYP27B1):c.93C>T (p.His31=)	single nucleotide variant	not provided [RCV003694015]	Chr12:57766949 [GRCh38] Chr12:58160732 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.590-17C>T	single nucleotide variant	not provided [RCV003849165]	Chr12:57765228 [GRCh38] Chr12:58159011 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.975G>A (p.Thr325=)	single nucleotide variant	not provided [RCV003546193]	Chr12:57764539 [GRCh38] Chr12:58158322 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.386+20A>G	single nucleotide variant	not provided [RCV003824577]	Chr12:57765987 [GRCh38] Chr12:58159770 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.96A>C (p.Ser32=)	single nucleotide variant	not provided [RCV003693801]	Chr12:57766946 [GRCh38] Chr12:58160729 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1008C>T (p.His336=)	single nucleotide variant	not provided [RCV003688280]	Chr12:57764506 [GRCh38] Chr12:58158289 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.196-14G>C	single nucleotide variant	not provided [RCV003715155]	Chr12:57766211 [GRCh38] Chr12:58159994 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.615G>A (p.Ser205=)	single nucleotide variant	not provided [RCV003687750]	Chr12:57765186 [GRCh38] Chr12:58158969 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.386+19C>A	single nucleotide variant	not provided [RCV003573863]	Chr12:57765988 [GRCh38] Chr12:58159771 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1218G>A (p.Thr406=)	single nucleotide variant	not provided [RCV003828849]	Chr12:57763806 [GRCh38] Chr12:58157589 [GRCh37] Chr12:12q14.1	benign
NM_000785.4(CYP27B1):c.196-9C>A	single nucleotide variant	not provided [RCV003695524]	Chr12:57766206 [GRCh38] Chr12:58159989 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.946T>C (p.Leu316=)	single nucleotide variant	not provided [RCV003877244]	Chr12:57764771 [GRCh38] Chr12:58158554 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.21C>G (p.Tyr7Ter)	single nucleotide variant	not provided [RCV003663468]	Chr12:57767021 [GRCh38] Chr12:58160804 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.1096C>T (p.Gln366Ter)	single nucleotide variant	not provided [RCV003574022]	Chr12:57764418 [GRCh38] Chr12:58158201 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.1137-12T>C	single nucleotide variant	not provided [RCV003694021]	Chr12:57764188 [GRCh38] Chr12:58157971 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.36C>T (p.Phe12=)	single nucleotide variant	not provided [RCV003696064]	Chr12:57767006 [GRCh38] Chr12:58160789 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.465C>T (p.Ala155=)	single nucleotide variant	not provided [RCV003661564]	Chr12:57765421 [GRCh38] Chr12:58159204 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1356G>A (p.Lys452=)	single nucleotide variant	not provided [RCV003831148]	Chr12:57763668 [GRCh38] Chr12:58157451 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.522A>T (p.Gly174=)	single nucleotide variant	not provided [RCV003661659]	Chr12:57765364 [GRCh38] Chr12:58159147 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.753C>T (p.Gly251=)	single nucleotide variant	not provided [RCV003545331]	Chr12:57765048 [GRCh38] Chr12:58158831 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.24_42dup (p.Val15fs)	duplication	not provided [RCV003663053]	Chr12:57766999..57767000 [GRCh38] Chr12:58160782..58160783 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.222G>A (p.Pro74=)	single nucleotide variant	not provided [RCV003880194]	Chr12:57766171 [GRCh38] Chr12:58159954 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.378G>A (p.Leu126=)	single nucleotide variant	not provided [RCV003547504]	Chr12:57766015 [GRCh38] Chr12:58159798 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1414-19C>G	single nucleotide variant	not provided [RCV003546986]	Chr12:57763274 [GRCh38] Chr12:58157057 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1453dup (p.Ala485fs)	duplication	not provided [RCV003572466]	Chr12:57763215..57763216 [GRCh38] Chr12:58156998..58156999 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.590-5A>G	single nucleotide variant	not provided [RCV003576802]	Chr12:57765216 [GRCh38] Chr12:58158999 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1136+19A>T	single nucleotide variant	not provided [RCV003830627]	Chr12:57764359 [GRCh38] Chr12:58158142 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.654G>A (p.Thr218=)	single nucleotide variant	not provided [RCV003830039]	Chr12:57765147 [GRCh38] Chr12:58158930 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.138C>T (p.Pro46=)	single nucleotide variant	not provided [RCV003831066]	Chr12:57766904 [GRCh38] Chr12:58160687 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.790+7C>G	single nucleotide variant	not provided [RCV003547761]	Chr12:57765004 [GRCh38] Chr12:58158787 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1209del (p.Asn405fs)	deletion	not provided [RCV003694173]	Chr12:57764104 [GRCh38] Chr12:58157887 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.951G>A (p.Ala317=)	single nucleotide variant	not provided [RCV003827960]	Chr12:57764766 [GRCh38] Chr12:58158549 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.386+10C>G	single nucleotide variant	not provided [RCV003713214]	Chr12:57765997 [GRCh38] Chr12:58159780 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1521C>T (p.Asp507=)	single nucleotide variant	not provided [RCV003687124]	Chr12:57763148 [GRCh38] Chr12:58156931 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1136+11A>G	single nucleotide variant	not provided [RCV003713120]	Chr12:57764367 [GRCh38] Chr12:58158150 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.791-20del	deletion	not provided [RCV003692765]	Chr12:57764946 [GRCh38] Chr12:58158729 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1414-19C>T	single nucleotide variant	not provided [RCV003660583]	Chr12:57763274 [GRCh38] Chr12:58157057 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.183A>G (p.Leu61=)	single nucleotide variant	not provided [RCV003715162]	Chr12:57766859 [GRCh38] Chr12:58160642 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1160del (p.Asn387fs)	deletion	not provided [RCV003662249]	Chr12:57764153 [GRCh38] Chr12:58157936 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.386+8T>C	single nucleotide variant	not provided [RCV003544029]	Chr12:57765999 [GRCh38] Chr12:58159782 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1413+10C>G	single nucleotide variant	not provided [RCV003713828]	Chr12:57763601 [GRCh38] Chr12:58157384 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.177G>A (p.Ser59=)	single nucleotide variant	not provided [RCV003662502]	Chr12:57766865 [GRCh38] Chr12:58160648 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.567A>G (p.Glu189=)	single nucleotide variant	not provided [RCV003574202]	Chr12:57765319 [GRCh38] Chr12:58159102 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1032C>T (p.His344=)	single nucleotide variant	not provided [RCV003713220]	Chr12:57764482 [GRCh38] Chr12:58158265 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1136+11A>T	single nucleotide variant	not provided [RCV003831936]	Chr12:57764367 [GRCh38] Chr12:58158150 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1332A>T (p.Ala444=)	single nucleotide variant	not provided [RCV003850587]	Chr12:57763692 [GRCh38] Chr12:58157475 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.790+13T>A	single nucleotide variant	not provided [RCV003698079]	Chr12:57764998 [GRCh38] Chr12:58158781 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1294C>T (p.Arg432Cys)	single nucleotide variant	not provided [RCV003557753]	Chr12:57763730 [GRCh38] Chr12:58157513 [GRCh37] Chr12:12q14.1	likely pathogenic
NM_000785.4(CYP27B1):c.147G>C (p.Leu49=)	single nucleotide variant	not provided [RCV003697437]	Chr12:57766895 [GRCh38] Chr12:58160678 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.221C>T (p.Pro74Leu)	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV003761188]	Chr12:57766172 [GRCh38] Chr12:58159955 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.964-13A>G	single nucleotide variant	not provided [RCV003667740]	Chr12:57764563 [GRCh38] Chr12:58158346 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.126C>G (p.Gly42=)	single nucleotide variant	not provided [RCV003832439]	Chr12:57766916 [GRCh38] Chr12:58160699 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.790+13T>G	single nucleotide variant	not provided [RCV003674370]	Chr12:57764998 [GRCh38] Chr12:58158781 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.590-19G>A	single nucleotide variant	not provided [RCV003840465]	Chr12:57765230 [GRCh38] Chr12:58159013 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1376dup (p.Leu460fs)	duplication	not provided [RCV003560069]	Chr12:57763647..57763648 [GRCh38] Chr12:58157430..58157431 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.1372_1375dup (p.Arg459fs)	duplication	not provided [RCV003580231]	Chr12:57763648..57763649 [GRCh38] Chr12:58157431..58157432 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.81C>T (p.Tyr27=)	single nucleotide variant	not provided [RCV003726166]	Chr12:57766961 [GRCh38] Chr12:58160744 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1215+13T>C	single nucleotide variant	not provided [RCV003670423]	Chr12:57764085 [GRCh38] Chr12:58157868 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1413+15T>C	single nucleotide variant	not provided [RCV003699591]	Chr12:57763596 [GRCh38] Chr12:58157379 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1137-7A>T	single nucleotide variant	not provided [RCV003703496]	Chr12:57764183 [GRCh38] Chr12:58157966 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.480C>T (p.Asn160=)	single nucleotide variant	not provided [RCV003726445]	Chr12:57765406 [GRCh38] Chr12:58159189 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.57_69del (p.Glu20fs)	deletion	not provided [RCV003724832]	Chr12:57766973..57766985 [GRCh38] Chr12:58160756..58160768 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.196-19G>A	single nucleotide variant	not provided [RCV003835767]	Chr12:57766216 [GRCh38] Chr12:58159999 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.150C>G (p.Ala50=)	single nucleotide variant	not provided [RCV003724853]	Chr12:57766892 [GRCh38] Chr12:58160675 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.378G>T (p.Leu126=)	single nucleotide variant	not provided [RCV003725066]	Chr12:57766015 [GRCh38] Chr12:58159798 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.790+8A>G	single nucleotide variant	not provided [RCV003836102]	Chr12:57765003 [GRCh38] Chr12:58158786 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1056C>T (p.Ser352=)	single nucleotide variant	not provided [RCV003700730]	Chr12:57764458 [GRCh38] Chr12:58158241 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1414-5T>C	single nucleotide variant	not provided [RCV003837689]	Chr12:57763260 [GRCh38] Chr12:58157043 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1188T>C (p.His396=)	single nucleotide variant	not provided [RCV003839937]	Chr12:57764125 [GRCh38] Chr12:58157908 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.753C>G (p.Gly251=)	single nucleotide variant	not provided [RCV003667539]	Chr12:57765048 [GRCh38] Chr12:58158831 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.790+2T>G	single nucleotide variant	not provided [RCV003673241]	Chr12:57765009 [GRCh38] Chr12:58158792 [GRCh37] Chr12:12q14.1	likely pathogenic
NM_000785.4(CYP27B1):c.1503C>A (p.Ile501=)	single nucleotide variant	not provided [RCV003559584]	Chr12:57763166 [GRCh38] Chr12:58156949 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1128A>G (p.Glu376=)	single nucleotide variant	not provided [RCV003670947]	Chr12:57764386 [GRCh38] Chr12:58158169 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.657G>A (p.Glu219=)	single nucleotide variant	not provided [RCV003669573]	Chr12:57765144 [GRCh38] Chr12:58158927 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.196-5_196-3del	deletion	not provided [RCV003580307]	Chr12:57766200..57766202 [GRCh38] Chr12:58159983..58159985 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1332A>G (p.Ala444=)	single nucleotide variant	not provided [RCV003668657]	Chr12:57763692 [GRCh38] Chr12:58157475 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.357C>T (p.Cys119=)	single nucleotide variant	not provided [RCV003854909]	Chr12:57766036 [GRCh38] Chr12:58159819 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.783T>C (p.Phe261=)	single nucleotide variant	not provided [RCV003669822]	Chr12:57765018 [GRCh38] Chr12:58158801 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.769dup (p.Trp257fs)	duplication	not provided [RCV003723846]	Chr12:57765031..57765032 [GRCh38] Chr12:58158814..58158815 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.628C>T (p.Leu210=)	single nucleotide variant	not provided [RCV003817350]	Chr12:57765173 [GRCh38] Chr12:58158956 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1308G>A (p.Glu436=)	single nucleotide variant	not provided [RCV003726342]	Chr12:57763716 [GRCh38] Chr12:58157499 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1352G>T (p.Gly451Val)	single nucleotide variant	not provided [RCV003558856]	Chr12:57763672 [GRCh38] Chr12:58157455 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.422dup (p.Ala142fs)	duplication	not provided [RCV003560590]	Chr12:57765463..57765464 [GRCh38] Chr12:58159246..58159247 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.279C>T (p.Leu93=)	single nucleotide variant	not provided [RCV003855210]	Chr12:57766114 [GRCh38] Chr12:58159897 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.285G>A (p.Glu95=)	single nucleotide variant	not provided [RCV003670903]	Chr12:57766108 [GRCh38] Chr12:58159891 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.507G>T (p.Leu169=)	single nucleotide variant	not provided [RCV003560740]	Chr12:57765379 [GRCh38] Chr12:58159162 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.393C>G (p.Gly131=)	single nucleotide variant	not provided [RCV003666766]	Chr12:57765493 [GRCh38] Chr12:58159276 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1413+10C>T	single nucleotide variant	not provided [RCV003558345]	Chr12:57763601 [GRCh38] Chr12:58157384 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.316G>T (p.Glu106Ter)	single nucleotide variant	not provided [RCV003700029]	Chr12:57766077 [GRCh38] Chr12:58159860 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.54G>C (p.Ala18=)	single nucleotide variant	not provided [RCV003667800]	Chr12:57766988 [GRCh38] Chr12:58160771 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1263G>A (p.Gln421=)	single nucleotide variant	not provided [RCV003580347]	Chr12:57763761 [GRCh38] Chr12:58157544 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.386+19dup	duplication	not provided [RCV003665124]	Chr12:57765987..57765988 [GRCh38] Chr12:58159770..58159771 [GRCh37] Chr12:12q14.1	benign
NM_000785.4(CYP27B1):c.376C>T (p.Leu126=)	single nucleotide variant	not provided [RCV003697663]	Chr12:57766017 [GRCh38] Chr12:58159800 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1321del (p.His441fs)	deletion	not provided [RCV003814389]	Chr12:57763703 [GRCh38] Chr12:58157486 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.489C>T (p.Cys163=)	single nucleotide variant	not provided [RCV003664934]	Chr12:57765397 [GRCh38] Chr12:58159180 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.351C>G (p.Arg117=)	single nucleotide variant	not provided [RCV003671466]	Chr12:57766042 [GRCh38] Chr12:58159825 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.387-16C>T	single nucleotide variant	not provided [RCV003666408]	Chr12:57765515 [GRCh38] Chr12:58159298 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.72C>G (p.Ser24=)	single nucleotide variant	not provided [RCV003671260]	Chr12:57766970 [GRCh38] Chr12:58160753 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1414-14T>C	single nucleotide variant	not provided [RCV003667492]	Chr12:57763269 [GRCh38] Chr12:58157052 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.386+11T>G	single nucleotide variant	not provided [RCV003664051]	Chr12:57765996 [GRCh38] Chr12:58159779 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.467del (p.Gly156fs)	deletion	not provided [RCV003558201]	Chr12:57765419 [GRCh38] Chr12:58159202 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.381C>T (p.Leu127=)	single nucleotide variant	not provided [RCV003560662]	Chr12:57766012 [GRCh38] Chr12:58159795 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1059T>G (p.Pro353=)	single nucleotide variant	not provided [RCV003549361]	Chr12:57764455 [GRCh38] Chr12:58158238 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.717C>A (p.Pro239=)	single nucleotide variant	not provided [RCV003665810]	Chr12:57765084 [GRCh38] Chr12:58158867 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.196-4C>G	single nucleotide variant	Inborn genetic diseases [RCV004614544]\|not provided [RCV003836488]	Chr12:57766201 [GRCh38] Chr12:58159984 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.196-11C>T	single nucleotide variant	not provided [RCV003863771]	Chr12:57766208 [GRCh38] Chr12:58159991 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.637C>T (p.Gln213Ter)	single nucleotide variant	not provided [RCV003706252]	Chr12:57765164 [GRCh38] Chr12:58158947 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.1136+7G>A	single nucleotide variant	not provided [RCV003844314]	Chr12:57764371 [GRCh38] Chr12:58158154 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.648C>G (p.Pro216=)	single nucleotide variant	not provided [RCV003550285]	Chr12:57765153 [GRCh38] Chr12:58158936 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1382C>A (p.Ala461Glu)	single nucleotide variant	not provided [RCV003677251]	Chr12:57763642 [GRCh38] Chr12:58157425 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.843A>G (p.Gly281=)	single nucleotide variant	not provided [RCV003554292]	Chr12:57764874 [GRCh38] Chr12:58158657 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1197C>T (p.Asp399=)	single nucleotide variant	not provided [RCV003731303]	Chr12:57764116 [GRCh38] Chr12:58157899 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1215+12C>G	single nucleotide variant	not provided [RCV003848486]	Chr12:57764086 [GRCh38] Chr12:58157869 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.327C>T (p.Ser109=)	single nucleotide variant	not provided [RCV003818390]	Chr12:57766066 [GRCh38] Chr12:58159849 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.543C>T (p.Ala181=)	single nucleotide variant	not provided [RCV003858273]	Chr12:57765343 [GRCh38] Chr12:58159126 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.195+7A>C	single nucleotide variant	not provided [RCV003550707]	Chr12:57766840 [GRCh38] Chr12:58160623 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1053G>A (p.Leu351=)	single nucleotide variant	not provided [RCV003556724]	Chr12:57764461 [GRCh38] Chr12:58158244 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.75A>G (p.Leu25=)	single nucleotide variant	not provided [RCV003845400]	Chr12:57766967 [GRCh38] Chr12:58160750 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.864G>A (p.Glu288=)	single nucleotide variant	not provided [RCV003562853]	Chr12:57764853 [GRCh38] Chr12:58158636 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.516_528dup (p.Thr177fs)	duplication	not provided [RCV003729988]	Chr12:57765357..57765358 [GRCh38] Chr12:58159140..58159141 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.1119G>A (p.Val373=)	single nucleotide variant	not provided [RCV003729956]	Chr12:57764395 [GRCh38] Chr12:58158178 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.505del (p.Arg168_Leu169insTer)	deletion	not provided [RCV003704619]	Chr12:57765381 [GRCh38] Chr12:58159164 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.790+8A>C	single nucleotide variant	not provided [RCV003566542]	Chr12:57765003 [GRCh38] Chr12:58158786 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.791-2A>G	single nucleotide variant	not provided [RCV003729269]	Chr12:57764928 [GRCh38] Chr12:58158711 [GRCh37] Chr12:12q14.1	likely pathogenic
NM_000785.4(CYP27B1):c.279C>G (p.Leu93=)	single nucleotide variant	not provided [RCV003550644]	Chr12:57766114 [GRCh38] Chr12:58159897 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.817del (p.Ala273fs)	deletion	not provided [RCV003704868]	Chr12:57764900 [GRCh38] Chr12:58158683 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.315C>T (p.Pro105=)	single nucleotide variant	not provided [RCV003863464]	Chr12:57766078 [GRCh38] Chr12:58159861 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.42C>T (p.Arg14=)	single nucleotide variant	not provided [RCV003709919]	Chr12:57767000 [GRCh38] Chr12:58160783 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.555C>T (p.Asp185=)	single nucleotide variant	not provided [RCV003858695]	Chr12:57765331 [GRCh38] Chr12:58159114 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1215+15T>G	single nucleotide variant	not provided [RCV003844677]	Chr12:57764083 [GRCh38] Chr12:58157866 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1434G>A (p.Val478=)	single nucleotide variant	not provided [RCV003707540]	Chr12:57763235 [GRCh38] Chr12:58157018 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1035A>G (p.Ser345=)	single nucleotide variant	not provided [RCV003824010]	Chr12:57764479 [GRCh38] Chr12:58158262 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.963+7T>C	single nucleotide variant	not provided [RCV003820717]	Chr12:57764747 [GRCh38] Chr12:58158530 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1239T>C (p.Tyr413=)	single nucleotide variant	not provided [RCV003684075]	Chr12:57763785 [GRCh38] Chr12:58157568 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.386+18C>G	single nucleotide variant	not provided [RCV003861561]	Chr12:57765989 [GRCh38] Chr12:58159772 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.964-13A>C	single nucleotide variant	not provided [RCV003869179]	Chr12:57764563 [GRCh38] Chr12:58158346 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.711G>A (p.Ala237=)	single nucleotide variant	not provided [RCV003710184]	Chr12:57765090 [GRCh38] Chr12:58158873 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.386+19C>T	single nucleotide variant	not provided [RCV003677375]	Chr12:57765988 [GRCh38] Chr12:58159771 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.791-17G>A	single nucleotide variant	not provided [RCV003864037]	Chr12:57764943 [GRCh38] Chr12:58158726 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.24C>T (p.Ala8=)	single nucleotide variant	not provided [RCV003562597]	Chr12:57767018 [GRCh38] Chr12:58160801 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.196-10G>C	single nucleotide variant	not provided [RCV003858748]	Chr12:57766207 [GRCh38] Chr12:58159990 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1136+14A>G	single nucleotide variant	not provided [RCV003675118]	Chr12:57764364 [GRCh38] Chr12:58158147 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1191G>C (p.Val397=)	single nucleotide variant	not provided [RCV003734047]	Chr12:57764122 [GRCh38] Chr12:58157905 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.790+15G>A	single nucleotide variant	not provided [RCV003869964]	Chr12:57764996 [GRCh38] Chr12:58158779 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1215+11C>G	single nucleotide variant	not provided [RCV003823907]	Chr12:57764087 [GRCh38] Chr12:58157870 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.196-10G>T	single nucleotide variant	CYP27B1-related disorder [RCV003929361]\|not provided [RCV003823908]	Chr12:57766207 [GRCh38] Chr12:58159990 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.333G>A (p.Ser111=)	single nucleotide variant	not provided [RCV003683719]	Chr12:57766060 [GRCh38] Chr12:58159843 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1182C>T (p.Asp394=)	single nucleotide variant	not provided [RCV003718817]	Chr12:57764131 [GRCh38] Chr12:58157914 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.678C>A (p.Gly226=)	single nucleotide variant	not provided [RCV003823792]	Chr12:57765123 [GRCh38] Chr12:58158906 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.963+9C>G	single nucleotide variant	not provided [RCV003732419]	Chr12:57764745 [GRCh38] Chr12:58158528 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1136+17G>C	single nucleotide variant	not provided [RCV003557131]	Chr12:57764361 [GRCh38] Chr12:58158144 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.195+12C>T	single nucleotide variant	not provided [RCV003867966]	Chr12:57766835 [GRCh38] Chr12:58160618 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.963+17G>C	single nucleotide variant	not provided [RCV003684722]	Chr12:57764737 [GRCh38] Chr12:58158520 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.589+20T>C	single nucleotide variant	not provided [RCV003557183]	Chr12:57765277 [GRCh38] Chr12:58159060 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.99A>G (p.Ala33=)	single nucleotide variant	not provided [RCV003868476]	Chr12:57766943 [GRCh38] Chr12:58160726 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1431G>A (p.Glu477=)	single nucleotide variant	not provided [RCV003555459]	Chr12:57763238 [GRCh38] Chr12:58157021 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.696G>A (p.Thr232=)	single nucleotide variant	not provided [RCV003721465]	Chr12:57765105 [GRCh38] Chr12:58158888 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1002C>G (p.Ser334=)	single nucleotide variant	not provided [RCV003705017]	Chr12:57764512 [GRCh38] Chr12:58158295 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.914A>C (p.Gln305Pro)	single nucleotide variant	not provided [RCV003737465]	Chr12:57764803 [GRCh38] Chr12:58158586 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.372C>A (p.Cys124Ter)	single nucleotide variant	not provided [RCV003554035]	Chr12:57766021 [GRCh38] Chr12:58159804 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.873G>T (p.Ala291=)	single nucleotide variant	not provided [RCV003863767]	Chr12:57764844 [GRCh38] Chr12:58158627 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.791-20C>A	single nucleotide variant	not provided [RCV003723120]	Chr12:57764946 [GRCh38] Chr12:58158729 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1230G>A (p.Leu410=)	single nucleotide variant	not provided [RCV003684215]	Chr12:57763794 [GRCh38] Chr12:58157577 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.791-8C>T	single nucleotide variant	not provided [RCV003712211]	Chr12:57764934 [GRCh38] Chr12:58158717 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1491T>G (p.Pro497=)	single nucleotide variant	not provided [RCV003870431]	Chr12:57763178 [GRCh38] Chr12:58156961 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.129C>A (p.Pro43=)	single nucleotide variant	not provided [RCV003681214]	Chr12:57766913 [GRCh38] Chr12:58160696 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.534G>A (p.Gly178=)	single nucleotide variant	not provided [RCV003868885]	Chr12:57765352 [GRCh38] Chr12:58159135 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.342G>A (p.Thr114=)	single nucleotide variant	not provided [RCV003728986]	Chr12:57766051 [GRCh38] Chr12:58159834 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1108C>T (p.Leu370=)	single nucleotide variant	not provided [RCV003707254]	Chr12:57764406 [GRCh38] Chr12:58158189 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.540C>T (p.Pro180=)	single nucleotide variant	not provided [RCV003734714]	Chr12:57765346 [GRCh38] Chr12:58159129 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.90C>T (p.Tyr30=)	single nucleotide variant	not provided [RCV003682706]	Chr12:57766952 [GRCh38] Chr12:58160735 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.57C>G (p.Pro19=)	single nucleotide variant	not provided [RCV003679986]	Chr12:57766985 [GRCh38] Chr12:58160768 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1192G>A (p.Gly398Ser)	single nucleotide variant	not provided [RCV003679643]	Chr12:57764121 [GRCh38] Chr12:58157904 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1096del (p.Gln366fs)	deletion	not provided [RCV003563236]	Chr12:57764418 [GRCh38] Chr12:58158201 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.615G>T (p.Ser205=)	single nucleotide variant	not provided [RCV003552915]	Chr12:57765186 [GRCh38] Chr12:58158969 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1017C>T (p.Val339=)	single nucleotide variant	not provided [RCV003858239]	Chr12:57764497 [GRCh38] Chr12:58158280 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1077C>T (p.Pro359=)	single nucleotide variant	not provided [RCV003709138]	Chr12:57764437 [GRCh38] Chr12:58158220 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.255C>T (p.Thr85=)	single nucleotide variant	not provided [RCV003709218]	Chr12:57766138 [GRCh38] Chr12:58159921 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1377C>A (p.Arg459=)	single nucleotide variant	not provided [RCV003730784]	Chr12:57763647 [GRCh38] Chr12:58157430 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.196-16G>C	single nucleotide variant	not provided [RCV003567835]	Chr12:57766213 [GRCh38] Chr12:58159996 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.546G>C (p.Leu182=)	single nucleotide variant	not provided [RCV003563664]	Chr12:57765340 [GRCh38] Chr12:58159123 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.386+17C>T	single nucleotide variant	not provided [RCV003676069]	Chr12:57765990 [GRCh38] Chr12:58159773 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.531G>C (p.Thr177=)	single nucleotide variant	not provided [RCV003681530]	Chr12:57765355 [GRCh38] Chr12:58159138 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.678C>T (p.Gly226=)	single nucleotide variant	not provided [RCV003733063]	Chr12:57765123 [GRCh38] Chr12:58158906 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.791-19G>A	single nucleotide variant	not provided [RCV003705688]	Chr12:57764945 [GRCh38] Chr12:58158728 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.171G>A (p.Gly57=)	single nucleotide variant	not provided [RCV003861281]	Chr12:57766871 [GRCh38] Chr12:58160654 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.381C>G (p.Leu127=)	single nucleotide variant	not provided [RCV003858900]	Chr12:57766012 [GRCh38] Chr12:58159795 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.189G>A (p.Glu63=)	single nucleotide variant	not provided [RCV003845087]	Chr12:57766853 [GRCh38] Chr12:58160636 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.264G>T (p.Val88=)	single nucleotide variant	not provided [RCV003566620]	Chr12:57766129 [GRCh38] Chr12:58159912 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.669C>T (p.Arg223=)	single nucleotide variant	not provided [RCV003718633]	Chr12:57765132 [GRCh38] Chr12:58158915 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.396A>G (p.Glu132=)	single nucleotide variant	not provided [RCV003679533]	Chr12:57765490 [GRCh38] Chr12:58159273 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.216C>T (p.Phe72=)	single nucleotide variant	not provided [RCV003733150]	Chr12:57766177 [GRCh38] Chr12:58159960 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.590-6G>A	single nucleotide variant	not provided [RCV003845399]	Chr12:57765217 [GRCh38] Chr12:58159000 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.286G>A (p.Glu96Lys)	single nucleotide variant	Inborn genetic diseases [RCV004367838]	Chr12:57766107 [GRCh38] Chr12:58159890 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.467G>A (p.Gly156Glu)	single nucleotide variant	Inborn genetic diseases [RCV004367840]	Chr12:57765419 [GRCh38] Chr12:58159202 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1222G>T (p.Val408Phe)	single nucleotide variant	Inborn genetic diseases [RCV004367836]	Chr12:57763802 [GRCh38] Chr12:58157585 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.49T>A (p.Trp17Arg)	single nucleotide variant	Inborn genetic diseases [RCV004367841]	Chr12:57766993 [GRCh38] Chr12:58160776 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.571T>C (p.Tyr191His)	single nucleotide variant	Inborn genetic diseases [RCV004367843]	Chr12:57765315 [GRCh38] Chr12:58159098 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1337T>G (p.Leu446Arg)	single nucleotide variant	Inborn genetic diseases [RCV004367837]	Chr12:57763687 [GRCh38] Chr12:58157470 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.461A>T (p.Tyr154Phe)	single nucleotide variant	Inborn genetic diseases [RCV004367839]	Chr12:57765425 [GRCh38] Chr12:58159208 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1376G>T (p.Arg459Leu)	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV004586045]	Chr12:57763648 [GRCh38] Chr12:58157431 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.1166G>C (p.Arg389Pro)	single nucleotide variant	not specified [RCV004690532]	Chr12:57764147 [GRCh38] Chr12:58157930 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1474C>G (p.Arg492Gly)	single nucleotide variant	not specified [RCV004690605]	Chr12:57763195 [GRCh38] Chr12:58156978 [GRCh37] Chr12:12q14.1	uncertain significance
NC_000012.11:g.(?_58160610)_(58160824_?)del	deletion	not provided [RCV004578485]	Chr12:58160610..58160824 [GRCh37] Chr12:12q14.1	pathogenic
NM_000785.4(CYP27B1):c.374G>T (p.Gly125Val)	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV004703019]	Chr12:57766019 [GRCh38] Chr12:58159802 [GRCh37] Chr12:12q14.1	likely pathogenic
NM_000785.4(CYP27B1):c.490G>A (p.Asp164Asn)	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV004702898]	Chr12:57765396 [GRCh38] Chr12:58159179 [GRCh37] Chr12:12q14.1	likely pathogenic
NM_000785.4(CYP27B1):c.1376G>C (p.Arg459Pro)	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV004690911]	Chr12:57763648 [GRCh38] Chr12:58157431 [GRCh37] Chr12:12q14.1	likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	copy number gain	See cases [RCV000510482]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	copy number gain	See cases [RCV000511643]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
NM_000785.4(CYP27B1):c.1353C>G (p.Gly451=)	single nucleotide variant	not provided [RCV000919254]	Chr12:57763671 [GRCh38] Chr12:58157454 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.987T>C (p.Ala329=)	single nucleotide variant	not provided [RCV000926092]	Chr12:57764527 [GRCh38] Chr12:58158310 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.386+10C>T	single nucleotide variant	Vitamin D-dependent rickets, type 1 [RCV001111797]\|not provided [RCV000926093]	Chr12:57765997 [GRCh38] Chr12:58159780 [GRCh37] Chr12:12q14.1	likely benign\|uncertain significance
NM_000785.4(CYP27B1):c.54G>A (p.Ala18=)	single nucleotide variant	Vitamin D-dependent rickets, type 1A [RCV002495435]\|not provided [RCV000897462]	Chr12:57766988 [GRCh38] Chr12:58160771 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.1009C>T (p.Pro337Ser)	single nucleotide variant	Inborn genetic diseases [RCV004608448]	Chr12:57764505 [GRCh38] Chr12:58158288 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1165C>T (p.Arg389Cys)	single nucleotide variant	not provided [RCV001868859]	Chr12:57764148 [GRCh38] Chr12:58157931 [GRCh37] Chr12:12q14.1	pathogenic\|likely pathogenic
NM_000785.4(CYP27B1):c.386+16C>T	single nucleotide variant	not provided [RCV002151298]	Chr12:57765991 [GRCh38] Chr12:58159774 [GRCh37] Chr12:12q14.1	likely benign
NM_000785.4(CYP27B1):c.350G>A (p.Arg117His)	single nucleotide variant	not provided [RCV002991858]	Chr12:57766043 [GRCh38] Chr12:58159826 [GRCh37] Chr12:12q14.1	uncertain significance
NM_000785.4(CYP27B1):c.1116G>C (p.Ala372=)	single nucleotide variant	not provided [RCV003716267]	Chr12:57764398 [GRCh38] Chr12:58158181 [GRCh37] Chr12:12q14.1	likely benign
NC_000012.11:g.(?_56711393)_(58190366_?)dup	duplication	Cataract 15 multiple types [RCV004578366]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV004578368]\|Spastic paraplegia [RCV004578367]	Chr12:56711393..58190366 [GRCh37] Chr12:12q13.3-14.1	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1889
Count of miRNA genes:	825
Interacting mature miRNAs:	970
Transcripts:	ENST00000228606, ENST00000546496, ENST00000546567, ENST00000547344, ENST00000547451, ENST00000552186
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region

A007H24

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	58,162,434 - 58,162,686	UniSTS	GRCh37
Build 36	12	56,448,701 - 56,448,953	RGD	NCBI36
Celera	12	57,820,029 - 57,820,281	RGD
Cytogenetic Map	12	q13.1-q13.3	UniSTS
Cytogenetic Map	12	q13	UniSTS
HuRef	12	55,199,273 - 55,199,525	UniSTS
GeneMap99-GB4 RH Map	12	251.37	UniSTS

RH48116

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	58,156,285 - 58,156,405	UniSTS	GRCh37
Build 36	12	56,442,552 - 56,442,672	RGD	NCBI36
Celera	12	57,813,880 - 57,814,000	RGD
Cytogenetic Map	12	q13.1-q13.3	UniSTS
HuRef	12	55,193,124 - 55,193,244	UniSTS
GeneMap99-GB4 RH Map	12	277.56	UniSTS
NCBI RH Map	12	459.1	UniSTS

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_007076	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_000785	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB005038	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB005989	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB005990	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB006987	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB767277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC025165	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF020192	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF027152	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF072470	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF246895	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF256213	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF500480	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK314953	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW449645	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY288916	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC001776	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC020267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC136386	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BP296031	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471054	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ925362	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ925363	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ925364	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ925365	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ925366	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ925367	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ925368	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ925369	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ925370	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ925371	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000228606 ⟹ ENSP00000228606

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,762,334 - 57,767,078 (-)	Ensembl

Ensembl Acc Id:

ENST00000546496

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,765,470 - 57,766,456 (-)	Ensembl

Ensembl Acc Id:

ENST00000546567 ⟹ ENSP00000449472

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,764,137 - 57,765,685 (-)	Ensembl

Ensembl Acc Id:

ENST00000546609 ⟹ ENSP00000476959

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,765,011 - 57,768,986 (-)	Ensembl

Ensembl Acc Id:

ENST00000547344

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,762,334 - 57,767,095 (-)	Ensembl

Ensembl Acc Id:

ENST00000547451

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,764,544 - 57,765,685 (-)	Ensembl

Ensembl Acc Id:

ENST00000552186

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,765,457 - 57,766,511 (-)	Ensembl

Ensembl Acc Id:

ENST00000713544 ⟹ ENSP00000518840

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,762,334 - 57,767,078 (-)	Ensembl

Ensembl Acc Id:

ENST00000713545 ⟹ ENSP00000518841

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,762,334 - 57,767,078 (-)	Ensembl

RefSeq Acc Id:

NM_000785 ⟹ NP_000776

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	57,762,334 - 57,767,078 (-)	NCBI
GRCh37	12	58,156,117 - 58,160,976 (-)	ENTREZGENE
Build 36	12	56,442,384 - 56,447,243 (-)	NCBI Archive
HuRef	12	55,192,956 - 55,197,815 (-)	ENTREZGENE
CHM1_1	12	58,123,921 - 58,128,780 (-)	NCBI
T2T-CHM13v2.0	12	57,730,683 - 57,735,427 (-)	NCBI

Sequence:

show sequence

AGAAGCGCTTTCTTTCGCGAGCACCCTGAACCAGACCATGACCCAGACCCTCAAGTACGCCTCC
AGAGTGTTCCATCGCGTCCGCTGGGCGCCCGAGTTGGGCGCCTCCCTAGGCTACCGAGAGTACC
ACTCAGCACGCCGGAGCTTGGCAGACATCCCAGGCCCCTCTACGCCCAGCTTTCTGGCCGAACT
TTTCTGCAAGGGGGGGCTGTCGAGGCTACACGAGCTGCAGGTGCAGGGCGCCGCGCACTTCGGG
CCGGTGTGGCTAGCCAGCTTTGGGACAGTGCGCACCGTGTACGTGGCTGCCCCTGCACTCGTCG
AGGAGCTGCTGCGACAGGAGGGACCCCGGCCCGAGCGCTGCAGCTTCTCGCCCTGGACGGAGCA
CCGCCGCTGCCGCCAGCGGGCTTGCGGACTGCTCACTGCGGAAGGCGAAGAATGGCAAAGGCTC
CGCAGTCTCCTGGCCCCGCTCCTCCTCCGGCCTCAAGCGGCCGCCCGCTACGCCGGAACCCTGA
ACAACGTAGTCTGCGACCTTGTGCGGCGTCTGAGGCGCCAGCGGGGACGTGGCACGGGGCCGCC
CGCCCTGGTTCGGGACGTGGCGGGGGAATTTTACAAGTTCGGACTGGAAGGCATCGCCGCGGTT
CTGCTCGGCTCGCGCTTGGGCTGCCTGGAGGCTCAAGTGCCACCCGACACGGAGACCTTCATCC
GCGCTGTGGGCTCGGTGTTTGTGTCCACGCTGTTGACCATGGCGATGCCCCACTGGCTGCGCCA
CCTTGTGCCTGGGCCCTGGGGCCGCCTCTGCCGAGACTGGGACCAGATGTTTGCATTTGCTCAG
AGGCACGTGGAGCGGCGAGAGGCAGAGGCAGCCATGAGGAACGGAGGACAGCCCGAGAAGGACC
TGGAGTCTGGGGCGCACCTGACCCACTTCCTGTTCCGGGAAGAGTTGCCTGCCCAGTCCATCCT
GGGAAATGTGACAGAGTTGCTATTGGCGGGAGTGGACACGGTGTCCAACACGCTCTCTTGGGCT
CTGTATGAGCTCTCCCGGCACCCCGAAGTCCAGACAGCACTCCACTCAGAGATCACAGCTGCCC
TGAGCCCTGGCTCCAGTGCCTACCCCTCAGCCACTGTTCTGTCCCAGCTGCCCCTGCTGAAGGC
GGTGGTCAAGGAAGTGCTAAGACTGTACCCTGTGGTACCTGGAAATTCTCGTGTCCCAGACAAA
GACATTCATGTGGGTGACTATATTATCCCCAAAAATACGCTGGTCACTCTGTGTCACTATGCCA
CTTCAAGGGACCCTGCCCAGTTCCCAGAGCCAAATTCTTTTCGTCCAGCTCGCTGGCTGGGGGA
GGGTCCCACCCCCCACCCATTTGCATCTCTTCCCTTTGGCTTTGGCAAGCGCAGCTGTATGGGG
AGACGCCTGGCAGAGCTTGAATTGCAAATGGCTTTGGCCCAGATCCTAACACATTTTGAGGTGC
AGCCTGAGCCAGGTGCGGCCCCAGTTAGACCCAAGACCCGGACTGTCCTGGTACCTGAAAGGAG
CATCAACCTACAGTTTTTGGACAGATAGTCCCATGGAAAGAGACTGTCATCATCACCCTTTCAT
TCATCATAGGGATAAGATTTTTTGTAGGCACAAGACCAAGGTATACATCTTCCCCTAATGCCTA
TCTGACCAAACTGGATAGAACCACCATAGTGAAGTGTGAGGCGGCCCTGACCAATGTGTGAAGT
ATGCACTTGGCCTGACTCAGGAAGCCAGGTGAGAAAACCATGGTCTCTCTGCTTGCTTGGCCCT
TCTGATCATGTATGCATCCCCCAAGGATGAAATCAGATTTTAACTAATAATGCTGGATGGCCTG
AGGAAAGATTCAACTGCCTCTCTTTTTGGGCTTTCATAGTGTTCATTGATGCTGCTGGCTAAGC
ATTTATCAAAGCATAAGCTCAGTAACTGTGCATCTGGTCTGTACCTGGTTGGTCCTTCGTCTTT
GCATGTAAGCTCTTTGAGAGGAAGGGTGAAGCCTTATTTGTTTTTTATGTCCCCTGCCAGGGCC
TGTCTCTGACTAGGTGTCACCATACACATTCTTAGATTGAATCTGAACCATGTGGCAGAAGGGA
TAAGCAGCTTACTTAGTAGGCTCTGTCTACCCCCTTCCTTCTTTGTCTTGCCCCTAGGAAGGTG
AATCTGCCCTAGCCTGGTTTACGGTTTCTTATAACTCTCCTTTGCTCTCTGGCCACTATTAAGT
GGGTTTGCCCCATCACTTAGTTCTCAGGCAGAGACATCTTTGGGCCTGTCCCTGCCCAGGCCTC
TGGCTTTTTATATTGAAAATTTTTAAATATTCACAAATTTTAGAATAAATCAAATATTCCATTC
TTGA

hide sequence

Protein Sequences


Protein RefSeqs	NP_000776	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC51853	(Get FASTA)	NCBI Sequence Viewer
	AAC51854	(Get FASTA)	NCBI Sequence Viewer
	AAD38325	(Get FASTA)	NCBI Sequence Viewer
	AAF64299	(Get FASTA)	NCBI Sequence Viewer
	AAG00416	(Get FASTA)	NCBI Sequence Viewer
	AAI36387	(Get FASTA)	NCBI Sequence Viewer
	AAM21669	(Get FASTA)	NCBI Sequence Viewer
	AAP31972	(Get FASTA)	NCBI Sequence Viewer
	BAA22656	(Get FASTA)	NCBI Sequence Viewer
	BAA22657	(Get FASTA)	NCBI Sequence Viewer
	BAA23416	(Get FASTA)	NCBI Sequence Viewer
	BAA23418	(Get FASTA)	NCBI Sequence Viewer
	BAG37458	(Get FASTA)	NCBI Sequence Viewer
	BAM93575	(Get FASTA)	NCBI Sequence Viewer
	EAW97067	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000228606
	ENSP00000228606.4
	ENSP00000449472.2
	ENSP00000518840.1
	ENSP00000518841.1
GenBank Protein	O15528	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_000776 ⟸ NM_000785

- UniProtKB:

B2RC61 (UniProtKB/Swiss-Prot), Q548T3 (UniProtKB/Swiss-Prot), O15528 (UniProtKB/Swiss-Prot), A0AAA9YHN9 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MTQTLKYASRVFHRVRWAPELGASLGYREYHSARRSLADIPGPSTPSFLAELFCKGGLSRLHEL
QVQGAAHFGPVWLASFGTVRTVYVAAPALVEELLRQEGPRPERCSFSPWTEHRRCRQRACGLLT
AEGEEWQRLRSLLAPLLLRPQAAARYAGTLNNVVCDLVRRLRRQRGRGTGPPALVRDVAGEFYK
FGLEGIAAVLLGSRLGCLEAQVPPDTETFIRAVGSVFVSTLLTMAMPHWLRHLVPGPWGRLCRD
WDQMFAFAQRHVERREAEAAMRNGGQPEKDLESGAHLTHFLFREELPAQSILGNVTELLLAGVD
TVSNTLSWALYELSRHPEVQTALHSEITAALSPGSSAYPSATVLSQLPLLKAVVKEVLRLYPVV
PGNSRVPDKDIHVGDYIIPKNTLVTLCHYATSRDPAQFPEPNSFRPARWLGEGPTPHPFASLPF
GFGKRSCMGRRLAELELQMALAQILTHFEVQPEPGAAPVRPKTRTVLVPERSINLQFLDR

hide sequence

Ensembl Acc Id:

ENSP00000228606 ⟸ ENST00000228606

Ensembl Acc Id:

ENSP00000476959 ⟸ ENST00000546609

Ensembl Acc Id:

ENSP00000449472 ⟸ ENST00000546567

Ensembl Acc Id:

ENSP00000518841 ⟸ ENST00000713545

Ensembl Acc Id:

ENSP00000518840 ⟸ ENST00000713544

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O15528-F1-model_v2	AlphaFold	O15528	1-508	view protein structure

Promoters

RGD ID:

6789851

Promoter ID:

HG_KWN:16006

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

UC001SQB.1, UC001SQC.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	12	56,445,246 - 56,446,682 (-)	MPROMDB

RGD ID:

6789852

Promoter ID:

HG_KWN:16007

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

NM_000785, UC001SQA.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	12	56,446,786 - 56,447,286 (-)	MPROMDB

RGD ID:

7224601

Promoter ID:

EPDNEW_H18047

Type:

initiation region

Name:

CYP27B1_3

Description:

cytochrome P450 family 27 subfamily B member 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H18049 EPDNEW_H18050

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	57,765,603 - 57,765,663	EPDNEW

RGD ID:

7224605

Promoter ID:

EPDNEW_H18049

Type:

multiple initiation site

Name:

CYP27B1_1

Description:

cytochrome P450 family 27 subfamily B member 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H18047 EPDNEW_H18050

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	57,767,078 - 57,767,138	EPDNEW

RGD ID:

7224609

Promoter ID:

EPDNEW_H18050

Type:

initiation region

Name:

CYP27B1_2

Description:

cytochrome P450 family 27 subfamily B member 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H18047 EPDNEW_H18049

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	57,769,131 - 57,769,191	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:2606	AgrOrtholog
COSMIC	CYP27B1	COSMIC
Ensembl Genes	ENSG00000111012	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000228606	ENTREZGENE
	ENST00000228606.9	UniProtKB/Swiss-Prot
	ENST00000546567.5	UniProtKB/TrEMBL
	ENST00000713544.1	UniProtKB/TrEMBL
	ENST00000713545.1	UniProtKB/TrEMBL
Gene3D-CATH	1.10.630.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000111012	GTEx
HGNC ID	HGNC:2606	ENTREZGENE
Human Proteome Map	CYP27B1	Human Proteome Map
InterPro	CYP11_CYP27_families	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Cyt_P450	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Cyt_P450_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Cyt_P450_E_grp-I	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Cyt_P450_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:1594	UniProtKB/Swiss-Prot
NCBI Gene	1594	ENTREZGENE
OMIM	609506	OMIM
PANTHER	CYTOCHROME P450 FAMILY 27 SUBFAMILY A MEMBER 1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR24279	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	p450	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA27099	PharmGKB
PRINTS	EP450I	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	P450	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	CYTOCHROME_P450	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	Cytochrome P450	UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt	A0AAA9YHN9	ENTREZGENE, UniProtKB/TrEMBL
	A0AAA9YHZ6_HUMAN	UniProtKB/TrEMBL
	B2RC61	ENTREZGENE
	CP27B_HUMAN	UniProtKB/Swiss-Prot
	F8VWR7_HUMAN	UniProtKB/TrEMBL
	O15528	ENTREZGENE
	Q548T3	ENTREZGENE
	Q9UP42_HUMAN	UniProtKB/TrEMBL
UniProt Secondary	B2RC61	UniProtKB/Swiss-Prot
	Q548T3	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-12-15	CYP27B1	cytochrome P450 family 27 subfamily B member 1	CYP27B1	cytochrome P450, family 27, subfamily B, polypeptide 1	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Manual Human Phenotype Annotations - RGD

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Manual Human Phenotype Annotations - RGD

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar