MVK (mevalonate kinase) - Rat Genome Database

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Gene: MVK (mevalonate kinase) Homo sapiens
Analyze
Symbol: MVK
Name: mevalonate kinase
RGD ID: 732031
HGNC Page HGNC:7530
Description: Enables identical protein binding activity and mevalonate kinase activity. Involved in cholesterol biosynthetic process; isoprenoid biosynthetic process; and negative regulation of inflammatory response. Located in cytosol and intracellular membrane-bounded organelle. Implicated in hyperimmunoglobulinemia D periodic fever syndrome; lipid metabolism disorder; mevalonic aciduria; and porokeratosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ96772; LH receptor mRNA-binding protein; LRBP; mevalonate kinase 1; MK; MVLK; POROK3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812109,573,272 - 109,598,125 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12109,573,255 - 109,598,125 (+)EnsemblGRCh38hg38GRCh38
GRCh3712110,011,599 - 110,035,930 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612108,496,000 - 108,519,450 (+)NCBINCBI36Build 36hg18NCBI36
Build 3412108,474,336 - 108,497,787NCBI
Celera12109,635,867 - 109,659,439 (+)NCBICelera
Cytogenetic Map12q24.11NCBI
HuRef12107,029,480 - 107,053,054 (+)NCBIHuRef
CHM1_112109,979,352 - 110,002,922 (+)NCBICHM1_1
T2T-CHM13v2.012109,548,171 - 109,573,017 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-trans,6-trans,10-trans-geranylgeranyl diphosphate  (EXP)
2-trans,6-trans-farnesyl diphosphate  (EXP)
22-Hydroxycholesterol  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
Archazolid B  (EXP)
Aroclor 1254  (ISO)
ATP  (EXP)
Azaspiracid  (EXP)
benzo[a]pyrene  (EXP)
beta-lapachone  (EXP)
beta-naphthoflavone  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
Bisphenol B  (EXP)
bromobenzene  (ISO)
cadmium dichloride  (EXP)
caffeine  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
cholesterol  (EXP)
chromium(6+)  (ISO)
cisplatin  (EXP)
clavulanic acid  (EXP)
copper(II) sulfate  (EXP)
crocidolite asbestos  (ISO)
curcumin  (ISO)
cyclosporin A  (EXP)
cyproconazole  (ISO)
dexamethasone  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
dichloromethane  (ISO)
dimethylarsinic acid  (ISO)
disodium selenite  (EXP)
dolichyl phosphate  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
farnesol  (EXP)
farnesyl diphosphate  (EXP)
flavonoids  (ISO)
fluoranthene  (ISO)
fluoxetine  (EXP)
flusilazole  (ISO)
formaldehyde  (EXP)
Ganoderic acid A  (EXP)
gentamycin  (ISO)
geraniol  (EXP)
geranyl diphosphate  (EXP)
geranylgeraniol  (EXP)
glafenine  (ISO)
isopentenyl diphosphate  (EXP)
isotretinoin  (EXP)
lipopolysaccharide  (EXP)
loperamide  (ISO)
methamphetamine  (EXP)
methylarsonic acid  (ISO)
mevalonic acid  (EXP)
monosodium L-glutamate  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
O-methyleugenol  (EXP)
obeticholic acid  (EXP)
p-menthan-3-ol  (EXP)
paracetamol  (EXP,ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP,ISO)
phenylpropanolamine  (EXP)
picrotoxin  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (EXP)
prenyl diphosphate  (EXP)
progesterone  (EXP)
rotenone  (ISO)
selenium atom  (EXP)
simvastatin  (EXP,ISO)
sinapic acid  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
tipifarnib  (EXP)
titanium dioxide  (ISO)
tolcapone  (ISO)
triadimefon  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
troglitazone  (EXP)
tungsten  (ISO)
undecane  (ISO)
valdecoxib  (ISO)
valproic acid  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Acrocyanosis  (IAGP)
Agenesis of cerebellar vermis  (IAGP)
Anemia  (IAGP)
Aplasia/Hypoplasia of the skin  (IAGP)
Arthralgia  (IAGP)
Arthritis  (IAGP)
Ataxia  (IAGP)
Attenuation of retinal blood vessels  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Blue sclerae  (IAGP)
Cataract  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Chills  (IAGP)
Chronic diarrhea  (IAGP)
Chronic oral candidiasis  (IAGP)
Cutaneous photosensitivity  (IAGP)
Delayed skeletal maturation  (IAGP)
Diarrhea  (IAGP)
Dolichocephaly  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dysarthria  (IAGP)
Edema  (IAGP)
Elevated circulating C-reactive protein concentration  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Elevated erythrocyte sedimentation rate  (IAGP)
Elevated urinary D-glyceric acid level  (IAGP)
Elevated urine mevalonic acid level  (IAGP)
Erythema  (IAGP)
Failure to thrive  (IAGP)
Failure to thrive in infancy  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Fluctuating hepatomegaly  (IAGP)
Fluctuating splenomegaly  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Headache  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
Hyperkeratosis  (IAGP)
Hypotonia  (IAGP)
Increased circulating IgA concentration  (IAGP)
Increased circulating IgD concentration  (IAGP)
Increased circulating lactate dehydrogenase concentration  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intestinal obstruction  (IAGP)
Juvenile onset  (IAGP)
Kyphoscoliosis  (IAGP)
Large fontanelles  (IAGP)
Leukocytosis  (IAGP)
Limitation of joint mobility  (IAGP)
Low-set ears  (IAGP)
Lymphadenitis  (IAGP)
Lymphadenopathy  (IAGP)
Methylmalonic acidemia  (IAGP)
Microcephaly  (IAGP)
Migraine  (IAGP)
Molluscum contagiosum  (IAGP)
Morbilliform rash  (IAGP)
Myalgia  (IAGP)
Nail dystrophy  (IAGP)
Neutrophilia  (IAGP)
Normocytic hypoplastic anemia  (IAGP)
Nuclear cataract  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Optic disc pallor  (IAGP)
Oral ulcer  (IAGP)
Papule  (IAGP)
Parakeratosis  (IAGP)
Peritonitis  (IAGP)
Porokeratosis  (IAGP)
Posteriorly rotated ears  (IAGP)
Progressive cerebellar ataxia  (IAGP)
Pruritus  (IAGP)
Purpura  (IAGP)
Recurrent aphthous stomatitis  (IAGP)
Recurrent fever  (IAGP)
Recurrent infections  (IAGP)
Renal angiomyolipoma  (IAGP)
Retinal dystrophy  (IAGP)
Rod-cone dystrophy  (IAGP)
Seizure  (IAGP)
Serositis  (IAGP)
Short stature  (IAGP)
Skin rash  (IAGP)
Splenomegaly  (IAGP)
Squamous cell carcinoma  (IAGP)
Thrombocytopenia  (IAGP)
Triangular face  (IAGP)
Underdeveloped nasal alae  (IAGP)
Urticaria  (IAGP)
Vasculitis  (IAGP)
Vertigo  (IAGP)
Vomiting  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9. Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria. Schafer BL, etal., J Biol Chem. 1992 Jul 5;267(19):13229-38.
10. Defects of cholesterol biosynthesis. Waterham HR FEBS Lett. 2006 Oct 9;580(23):5442-9. Epub 2006 Jul 20.
Additional References at PubMed
PMID:1356376   PMID:6255462   PMID:8302606   PMID:8889549   PMID:9146921   PMID:9325256   PMID:9392419   PMID:9464248   PMID:10369261   PMID:10369262   PMID:10401001   PMID:10417275  
PMID:11111075   PMID:11313768   PMID:11313769   PMID:12444096   PMID:12477733   PMID:12477932   PMID:12634869   PMID:14680974   PMID:14702039   PMID:14730012   PMID:14749336   PMID:15037710  
PMID:15188372   PMID:15489334   PMID:15536479   PMID:16189514   PMID:16234278   PMID:16732551   PMID:16806233   PMID:17213252   PMID:17978300   PMID:18029348   PMID:18193043   PMID:18302342  
PMID:18494797   PMID:18512793   PMID:18660489   PMID:18941711   PMID:19060906   PMID:19148283   PMID:19487539   PMID:19605566   PMID:20159775   PMID:20160193   PMID:20194276   PMID:20301590  
PMID:20430392   PMID:20677014   PMID:20686565   PMID:20714348   PMID:20814828   PMID:20864672   PMID:20972250   PMID:21044950   PMID:21124859   PMID:21147848   PMID:21430599   PMID:21548022  
PMID:21873635   PMID:22038276   PMID:22159817   PMID:22271696   PMID:22658674   PMID:22863883   PMID:22939629   PMID:22983302   PMID:23333304   PMID:23376485   PMID:23834120   PMID:24008101  
PMID:24064360   PMID:24084495   PMID:24097068   PMID:24411001   PMID:24551296   PMID:24708999   PMID:24781643   PMID:25053464   PMID:25059119   PMID:25416956   PMID:25502805   PMID:25982894  
PMID:26186194   PMID:26344197   PMID:26420133   PMID:26794421   PMID:26871637   PMID:27213830   PMID:27716295   PMID:28095071   PMID:28514442   PMID:28986522   PMID:29148404   PMID:29290516  
PMID:30101835   PMID:30418111   PMID:30597534   PMID:31135083   PMID:31207227   PMID:31474985   PMID:31515488   PMID:32296183   PMID:32513696   PMID:32687490   PMID:32822427   PMID:33961781  
PMID:34145613   PMID:34189442   PMID:34373451   PMID:34591612   PMID:34751146   PMID:35016035   PMID:35271311   PMID:35831314   PMID:35944360   PMID:36215168   PMID:36371681   PMID:37827155  
PMID:38550596  


Genomics

Comparative Map Data
MVK
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812109,573,272 - 109,598,125 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12109,573,255 - 109,598,125 (+)EnsemblGRCh38hg38GRCh38
GRCh3712110,011,599 - 110,035,930 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612108,496,000 - 108,519,450 (+)NCBINCBI36Build 36hg18NCBI36
Build 3412108,474,336 - 108,497,787NCBI
Celera12109,635,867 - 109,659,439 (+)NCBICelera
Cytogenetic Map12q24.11NCBI
HuRef12107,029,480 - 107,053,054 (+)NCBIHuRef
CHM1_112109,979,352 - 110,002,922 (+)NCBICHM1_1
T2T-CHM13v2.012109,548,171 - 109,573,017 (+)NCBIT2T-CHM13v2.0
Mvk
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395114,582,324 - 114,598,652 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5114,582,330 - 114,598,652 (+)EnsemblGRCm39 Ensembl
GRCm385114,444,264 - 114,460,591 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5114,444,269 - 114,460,591 (+)EnsemblGRCm38mm10GRCm38
MGSCv375114,894,315 - 114,910,600 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365114,705,305 - 114,721,590 (+)NCBIMGSCv36mm8
MGSCv365112,393,780 - 112,426,739 (+)NCBIMGSCv36mm8
Celera5111,543,727 - 111,559,933 (+)NCBICelera
Cytogenetic Map5FNCBI
cM Map555.99NCBI
Mvk
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81247,802,002 - 47,819,503 (-)NCBIGRCr8
mRatBN7.21242,141,391 - 42,158,893 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1242,141,384 - 42,158,882 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1243,308,698 - 43,326,126 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01243,922,277 - 43,939,707 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01242,982,791 - 43,000,222 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01247,904,266 - 47,920,457 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1247,904,719 - 47,919,400 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01249,695,252 - 49,711,443 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1243,753,220 - 43,770,539 (-)NCBICelera
Cytogenetic Map12q16NCBI
Mvk
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554558,930,125 - 8,953,894 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554558,933,250 - 8,953,883 (-)NCBIChiLan1.0ChiLan1.0
MVK
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v210117,640,740 - 117,664,230 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan112117,637,164 - 117,660,637 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v012107,150,477 - 107,173,978 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.112110,544,991 - 110,568,524 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl12110,544,991 - 110,568,524 (+)Ensemblpanpan1.1panPan2
MVK
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12617,497,516 - 17,519,015 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2617,497,513 - 17,519,385 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2618,284,429 - 18,305,927 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02617,839,721 - 17,861,223 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2617,839,043 - 17,861,141 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12618,493,628 - 18,515,091 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02617,830,226 - 17,851,709 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02617,848,229 - 17,869,727 (-)NCBIUU_Cfam_GSD_1.0
Mvk
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118144,180,507 - 144,201,367 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367691,274,540 - 1,298,178 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367691,274,595 - 1,295,186 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MVK
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1441,281,673 - 41,357,368 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11441,320,790 - 41,357,437 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21443,838,243 - 43,874,068 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MVK
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111104,812,882 - 104,837,089 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl11104,813,846 - 104,835,517 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037140,282,725 - 140,306,924 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mvk
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474710,834,306 - 10,857,595 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474710,837,743 - 10,858,758 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MVK
671 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000431.4(MVK):c.614A>G (p.Asn205Ser) single nucleotide variant Mevalonic aciduria [RCV002535041]|not provided [RCV000723117] Chr12:109586108 [GRCh38]
Chr12:110023913 [GRCh37]
Chr12:12q24.11		 likely pathogenic|uncertain significance
NM_000431.4(MVK):c.16_34del (p.Leu6fs) deletion Hyperimmunoglobulin D with periodic fever [RCV000083827]|Mevalonic aciduria [RCV000012713] Chr12:109574838..109574856 [GRCh38]
Chr12:110012643..110012661 [GRCh37]
Chr12:12q24.11		 pathogenic|not provided
NM_000431.4(MVK):c.902A>C (p.Asn301Thr) single nucleotide variant Mevalonic aciduria [RCV000012704] Chr12:109595044 [GRCh38]
Chr12:110032849 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) single nucleotide variant Autoinflammatory syndrome [RCV002262563]|Hyperimmunoglobulin D with periodic fever [RCV000012705]|Inborn genetic diseases [RCV002512987]|MVK-related disorder [RCV000791161]|Mevalonic aciduria [RCV000191108]|Mevalonic aciduria [RCV000627780]|Porokeratosis 3, disseminated superficial actinic type [RCV001270083]|not provided [RCV000221789]|not specified [RCV000999977] Chr12:109596515 [GRCh38]
Chr12:110034320 [GRCh37]
Chr12:12q24.11		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000431.4(MVK):c.1000G>A (p.Ala334Thr) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000074422]|Mevalonic aciduria [RCV000012706]|Mevalonic aciduria [RCV000688831]|not provided [RCV003114187] Chr12:109595142 [GRCh38]
Chr12:110032947 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.59A>C (p.His20Pro) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000012707]|Mevalonic aciduria [RCV000012708]|Mevalonic aciduria [RCV001240497]|not provided [RCV001093432] Chr12:109574881 [GRCh38]
Chr12:110012686 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) single nucleotide variant Autoinflammatory syndrome [RCV002262564]|Hyperimmunoglobulin D with periodic fever [RCV000012709]|Inborn genetic diseases [RCV002512988]|MVK-related disorder [RCV002255091]|Mevalonic aciduria [RCV000012710]|Mevalonic aciduria [RCV000191109]|Mevalonic aciduria [RCV000698175]|not provided [RCV000218157]|not specified [RCV000505909] Chr12:109591275 [GRCh38]
Chr12:110029080 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.494C>T (p.Pro165Leu) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000012711]|Mevalonic aciduria [RCV001219913] Chr12:109581517 [GRCh38]
Chr12:110019322 [GRCh37]
Chr12:12q24.11		 pathogenic|likely pathogenic
NM_000431.4(MVK):c.928G>A (p.Val310Met) single nucleotide variant Autoinflammatory syndrome [RCV002262565]|Hyperimmunoglobulin D with periodic fever [RCV000083890]|Mevalonic aciduria [RCV000012712]|Mevalonic aciduria [RCV000697433]|not provided [RCV000414603] Chr12:109595070 [GRCh38]
Chr12:110032875 [GRCh37]
Chr12:12q24.11		 pathogenic|not provided
NM_000431.4(MVK):c.764T>C (p.Leu255Pro) single nucleotide variant Porokeratosis 3, disseminated superficial actinic type [RCV000032936] Chr12:109590857 [GRCh38]
Chr12:110028662 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.500C>T (p.Pro167Leu) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000032937]|Mevalonic aciduria [RCV003764651]|not provided [RCV000445120] Chr12:109581523 [GRCh38]
Chr12:110019328 [GRCh37]
Chr12:12q24.11		 pathogenic|likely pathogenic
NM_000431.4(MVK):c.604G>A (p.Gly202Arg) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000032938]|Mevalonic aciduria [RCV000032939]|Mevalonic aciduria [RCV002496494]|Porokeratosis 3, disseminated superficial actinic type [RCV000032940]|not provided [RCV001090935] Chr12:109586098 [GRCh38]
Chr12:110023903 [GRCh37]
Chr12:12q24.11		 pathogenic|likely pathogenic
NM_000431.4(MVK):c.417dup (p.Gly140fs) duplication Hyperimmunoglobulin D with periodic fever [RCV000083840]|Mevalonic aciduria [RCV000032941]|Porokeratosis 3, disseminated superficial actinic type [RCV000074423]|not provided [RCV000657168] Chr12:109581434..109581435 [GRCh38]
Chr12:110019239..110019240 [GRCh37]
Chr12:12q24.11		 pathogenic|not provided
NM_000431.4(MVK):c.122T>C (p.Leu41Pro) single nucleotide variant Porokeratosis 3, disseminated superficial actinic type [RCV000032943] Chr12:109576041 [GRCh38]
Chr12:110013846 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.1039+2T>C single nucleotide variant Porokeratosis 3, disseminated superficial actinic type [RCV000032944] Chr12:109595183 [GRCh38]
Chr12:110032988 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.1094T>C (p.Phe365Ser) single nucleotide variant Porokeratosis 3, disseminated superficial actinic type [RCV000032945] Chr12:109596480 [GRCh38]
Chr12:110034285 [GRCh37]
Chr12:12q24.11		 pathogenic
GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1 copy number loss See cases [RCV000050807] Chr12:105234677..112194686 [GRCh38]
Chr12:105628455..112632490 [GRCh37]
Chr12:104152585..111116873 [NCBI36]
Chr12:12q23.3-24.13		 pathogenic
NM_000431.4(MVK):c.1189T>C (p.Ter397Arg) single nucleotide variant Mevalonic aciduria [RCV001297383]|not provided [RCV000657855] Chr12:109596575 [GRCh38]
Chr12:110034380 [GRCh37]
Chr12:12q24.11		 likely pathogenic|uncertain significance
NM_000431.4(MVK):c.607dup (p.Val203fs) duplication Hyperimmunoglobulin D with periodic fever [RCV000083852] Chr12:109586100..109586101 [GRCh38]
Chr12:110023905..110023906 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.72dup (p.Gly25fs) duplication Hyperimmunoglobulin D with periodic fever [RCV000083866]|Mevalonic aciduria [RCV000074424]|Mevalonic aciduria [RCV000823039] Chr12:109574893..109574894 [GRCh38]
Chr12:110012698..110012699 [GRCh37]
Chr12:12q24.11		 pathogenic|not provided
NM_000431.4(MVK):c.421dup (p.Ala141fs) duplication Hyperimmunoglobulin D with periodic fever [RCV000083842] Chr12:109581440..109581441 [GRCh38]
Chr12:110019245..110019246 [GRCh37]
Chr12:12q24.11		 pathogenic|not provided
NM_000431.4(MVK):c.*11C>T single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083810] Chr12:109596588 [GRCh38]
Chr12:110034393 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.-13_78+1del deletion Hyperimmunoglobulin D with periodic fever [RCV000083811] Chr12:109574807..109574898 [GRCh38]
Chr12:110012612..110012703 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.1005C>T (p.Gly335=) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083812]|Mevalonic aciduria [RCV000685302]|not specified [RCV000606015] Chr12:109595147 [GRCh38]
Chr12:110032952 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance|not provided
NM_000431.4(MVK):c.1006G>A (p.Gly336Ser) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083813]|Mevalonic aciduria [RCV004689451] Chr12:109595148 [GRCh38]
Chr12:110032953 [GRCh37]
Chr12:12q24.11		 pathogenic|likely pathogenic|not provided
NM_000431.4(MVK):c.1039+1G>T single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083814] Chr12:109595182 [GRCh38]
Chr12:110032987 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.104T>C (p.Leu35Ser) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083815]|not provided [RCV002260975] Chr12:109576023 [GRCh38]
Chr12:110013828 [GRCh37]
Chr12:12q24.11		 uncertain significance|not provided
NM_000431.4(MVK):c.1067C>T (p.Thr356Met) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083816]|Inborn genetic diseases [RCV002514463]|Mevalonic aciduria [RCV000688571]|not provided [RCV001588913] Chr12:109596453 [GRCh38]
Chr12:110034258 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance|not provided
NM_000431.4(MVK):c.1097_1100del (p.Asp366fs) deletion Hyperimmunoglobulin D with periodic fever [RCV000083817] Chr12:109596481..109596484 [GRCh38]
Chr12:110034286..110034289 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.1100G>C (p.Cys367Ser) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083818] Chr12:109596486 [GRCh38]
Chr12:110034291 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.1127G>T (p.Gly376Val) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083819] Chr12:109596513 [GRCh38]
Chr12:110034318 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.1132T>C (p.Ser378Pro) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083820] Chr12:109596518 [GRCh38]
Chr12:110034323 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.1139A>G (p.His380Arg) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083821]|MVK-related disorder [RCV004528781]|Mevalonic aciduria [RCV000690628]|Mevalonic aciduria [RCV004593988]|not provided [RCV000757501] Chr12:109596525 [GRCh38]
Chr12:110034330 [GRCh37]
Chr12:12q24.11		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000431.4(MVK):c.1151C>T (p.Ser384Phe) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083822] Chr12:109596537 [GRCh38]
Chr12:110034342 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn) single nucleotide variant Autoinflammatory syndrome [RCV002262659]|Hyperimmunoglobulin D with periodic fever [RCV000083823]|Mevalonic aciduria [RCV000887171]|not provided [RCV001701591] Chr12:109596542 [GRCh38]
Chr12:110034347 [GRCh37]
Chr12:12q24.11		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000431.4(MVK):c.1162C>T (p.Arg388Ter) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083824]|MVK-related disorder [RCV004529877]|Mevalonic aciduria [RCV001038569]|not provided [RCV000214882] Chr12:109596548 [GRCh38]
Chr12:110034353 [GRCh37]
Chr12:12q24.11		 pathogenic|not provided
NM_000431.4(MVK):c.116T>C (p.Leu39Pro) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083825] Chr12:109576035 [GRCh38]
Chr12:110013840 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.129_130del (p.His44fs) deletion Hyperimmunoglobulin D with periodic fever [RCV000083826]|Mevalonic aciduria [RCV001216056] Chr12:109576046..109576047 [GRCh38]
Chr12:110013851..110013852 [GRCh37]
Chr12:12q24.11		 pathogenic|not provided
NM_000431.3(MVK):c.16_34del19 (p.Leu6Glyfs) deletion Hyperimmunoglobulin D with periodic fever [RCV000083827] Chr12:109574838..109574856 [GRCh38]
Chr12:110012643..110012661 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.185G>A (p.Trp62Ter) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083828]|Mevalonic aciduria [RCV003764774]|not provided [RCV001701662] Chr12:109576104 [GRCh38]
Chr12:110013909 [GRCh37]
Chr12:12q24.11		 pathogenic|not provided
NM_000431.4(MVK):c.22G>C (p.Val8Leu) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083829] Chr12:109574844 [GRCh38]
Chr12:110012649 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.238G>A (p.Val80Ile) single nucleotide variant Autoinflammatory syndrome [RCV002262660]|Hyperimmunoglobulin D with periodic fever [RCV000083830]|MVK-related disorder [RCV004529878]|Mevalonic aciduria [RCV001087442]|Mevalonic aciduria [RCV001114047]|not provided [RCV000726403] Chr12:109579813 [GRCh38]
Chr12:110017618 [GRCh37]
Chr12:12q24.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000431.4(MVK):c.277_283del (p.Glu93fs) deletion Hyperimmunoglobulin D with periodic fever [RCV000083831]|MVK-related disorder [RCV000779090]|Mevalonic aciduria [RCV002514464]|not provided [RCV003137624] Chr12:109579851..109579857 [GRCh38]
Chr12:110017656..110017662 [GRCh37]
Chr12:12q24.11		 pathogenic|uncertain significance|not provided
NM_000431.4(MVK):c.340_344del (p.Tyr114fs) deletion Hyperimmunoglobulin D with periodic fever [RCV000083832] Chr12:109579912..109579916 [GRCh38]
Chr12:110017717..110017721 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.346T>C (p.Tyr116His) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083833]|Mevalonic aciduria [RCV000645101]|See cases [RCV002251975]|not provided [RCV000220019] Chr12:109579921 [GRCh38]
Chr12:110017726 [GRCh37]
Chr12:12q24.11		 pathogenic|likely pathogenic|not provided
NM_000431.4(MVK):c.357C>G (p.Ile119Met) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083834] Chr12:109579932 [GRCh38]
Chr12:110017737 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.372-3C>T single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083835]|Mevalonic aciduria [RCV003764775] Chr12:109581392 [GRCh38]
Chr12:110019197 [GRCh37]
Chr12:12q24.11		 uncertain significance|not provided
NM_000431.4(MVK):c.372_527del (p.Ala125_Arg176del) deletion Hyperimmunoglobulin D with periodic fever [RCV000083836]   not provided
NM_000431.4(MVK):c.37A>T (p.Lys13Ter) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083837] Chr12:109574859 [GRCh38]
Chr12:110012664 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.394G>A (p.Val132Ile) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083838]|Mevalonic aciduria [RCV001046559] Chr12:109581417 [GRCh38]
Chr12:110019222 [GRCh37]
Chr12:12q24.11		 uncertain significance|not provided
NM_000431.4(MVK):c.404C>T (p.Ser135Leu) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083839]|not provided [RCV001531167] Chr12:109581427 [GRCh38]
Chr12:110019232 [GRCh37]
Chr12:12q24.11		 pathogenic|not provided
NM_000431.4(MVK):c.421del (p.Ala141fs) deletion Hyperimmunoglobulin D with periodic fever [RCV000083841]|Mevalonic aciduria [RCV004767065] Chr12:109581441 [GRCh38]
Chr12:110019246 [GRCh37]
Chr12:12q24.11		 pathogenic|not provided
NM_000431.4(MVK):c.439G>A (p.Ala147Thr) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083843]|Mevalonic aciduria [RCV002514465] Chr12:109581462 [GRCh38]
Chr12:110019267 [GRCh37]
Chr12:12q24.11		 likely pathogenic|not provided
NM_000431.4(MVK):c.442G>A (p.Ala148Thr) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083844]|Mevalonic aciduria [RCV001854464]|not provided [RCV000214102] Chr12:109581465 [GRCh38]
Chr12:110019270 [GRCh37]
Chr12:12q24.11		 pathogenic|not provided
NM_000431.4(MVK):c.447C>G (p.Tyr149Ter) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083845] Chr12:109581470 [GRCh38]
Chr12:110019275 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.503_512delinsAC (p.Leu168fs) indel Hyperimmunoglobulin D with periodic fever [RCV000083846] Chr12:109581526..109581535 [GRCh38]
Chr12:110019331..110019340 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.511G>A (p.Gly171Arg) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083847]|Mevalonic aciduria [RCV001065483] Chr12:109581534 [GRCh38]
Chr12:110019339 [GRCh37]
Chr12:12q24.11		 uncertain significance|not provided
NM_000431.4(MVK):c.516T>C (p.Asp172=) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083848] Chr12:109581539 [GRCh38]
Chr12:110019344 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.564G>A (p.Trp188Ter) single nucleotide variant Autoinflammatory syndrome [RCV002262661]|Hyperimmunoglobulin D with periodic fever [RCV000083849]|Mevalonic aciduria [RCV001381668]|not provided [RCV000725893] Chr12:109586058 [GRCh38]
Chr12:110023863 [GRCh37]
Chr12:12q24.11		 pathogenic|not provided
NM_000431.4(MVK):c.571del (p.Gln191fs) deletion Hyperimmunoglobulin D with periodic fever [RCV000083850] Chr12:109586064 [GRCh38]
Chr12:110023869 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.591C>T (p.His197=) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083851]|Mevalonic aciduria [RCV000396517]|Mevalonic aciduria [RCV000645100]|not provided [RCV000828083] Chr12:109586085 [GRCh38]
Chr12:110023890 [GRCh37]
Chr12:12q24.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000431.4(MVK):c.608T>C (p.Val203Ala) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083853]|Mevalonic aciduria [RCV000799676]|not provided [RCV000217732] Chr12:109586102 [GRCh38]
Chr12:110023907 [GRCh37]
Chr12:12q24.11		 pathogenic|likely pathogenic|not provided
NM_000431.4(MVK):c.60T>A (p.His20Gln) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083854]|Mevalonic aciduria [RCV003764776]|not provided [RCV001509433] Chr12:109574882 [GRCh38]
Chr12:110012687 [GRCh37]
Chr12:12q24.11		 pathogenic|likely pathogenic|not provided
NM_000431.4(MVK):c.613A>G (p.Asn205Asp) single nucleotide variant Autoinflammatory syndrome [RCV002262662]|Hyperimmunoglobulin D with periodic fever [RCV000083855]|Mevalonic aciduria [RCV001857407]|Mevalonic aciduria [RCV004767066]|not provided [RCV001594835] Chr12:109586107 [GRCh38]
Chr12:110023912 [GRCh37]
Chr12:12q24.11		 pathogenic|likely pathogenic|not provided
NM_000431.4(MVK):c.625A>G (p.Thr209Ala) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083856] Chr12:109586119 [GRCh38]
Chr12:110023924 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.632-71A>G single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083857] Chr12:109586683 [GRCh38]
Chr12:110024488 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.632G>A (p.Gly211Glu) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083858] Chr12:109586754 [GRCh38]
Chr12:110024559 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.632G>C (p.Gly211Ala) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083859] Chr12:109586754 [GRCh38]
Chr12:110024559 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.644G>A (p.Arg215Gln) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083860]|Mevalonic aciduria [RCV001383593] Chr12:109586766 [GRCh38]
Chr12:110024571 [GRCh37]
Chr12:12q24.11		 pathogenic|not provided
NM_000431.4(MVK):c.678-1G>C single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083861] Chr12:109590770 [GRCh38]
Chr12:110028575 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.684A>G (p.Pro228=) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083862] Chr12:109590777 [GRCh38]
Chr12:110028582 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.701T>C (p.Leu234Pro) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083863] Chr12:109590794 [GRCh38]
Chr12:110028599 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.709A>T (p.Thr237Ser) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083864]|Mevalonic aciduria [RCV001381669]|Mevalonic aciduria [RCV004593989]|not provided [RCV000480950] Chr12:109590802 [GRCh38]
Chr12:110028607 [GRCh37]
Chr12:12q24.11		 pathogenic|likely pathogenic|not provided
NM_000431.4(MVK):c.728C>T (p.Thr243Ile) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083865] Chr12:109590821 [GRCh38]
Chr12:110028626 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.737T>C (p.Leu246Pro) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083867] Chr12:109590830 [GRCh38]
Chr12:110028635 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.748G>A (p.Val250Ile) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083868]|Mevalonic aciduria [RCV002513866] Chr12:109590841 [GRCh38]
Chr12:110028646 [GRCh37]
Chr12:12q24.11		 likely pathogenic|not provided
NM_000431.4(MVK):c.75C>T (p.Gly25=) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083869] Chr12:109574897 [GRCh38]
Chr12:110012702 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.768+23G>C single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083870] Chr12:109590884 [GRCh38]
Chr12:110028689 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.769-103C>T single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083871] Chr12:109591138 [GRCh38]
Chr12:110028943 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.769-7T>G single nucleotide variant Autoinflammatory syndrome [RCV002262663]|Hyperimmunoglobulin D with periodic fever [RCV000083872]|Mevalonic aciduria [RCV001086945]|Mevalonic aciduria [RCV001114134]|Nemaline myopathy 5 [RCV001258306]|not provided [RCV000224758]|not specified [RCV001699120] Chr12:109591234 [GRCh38]
Chr12:110029039 [GRCh37]
Chr12:12q24.11		 benign|likely benign|not provided
NM_000431.4(MVK):c.769-7dup duplication Hyperimmunoglobulin D with periodic fever [RCV000083873] Chr12:109591227..109591228 [GRCh38]
Chr12:110029032..110029033 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.78+177G>A single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083874]|not provided [RCV001610385] Chr12:109575077 [GRCh38]
Chr12:110012882 [GRCh37]
Chr12:12q24.11		 benign|not provided
NM_000431.4(MVK):c.78+2del deletion Hyperimmunoglobulin D with periodic fever [RCV000083875] Chr12:109574902 [GRCh38]
Chr12:110012707 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.79-62G>A single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083876] Chr12:109575936 [GRCh38]
Chr12:110013741 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.790C>T (p.Leu264Phe) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083877]|Mevalonic aciduria [RCV001381670]|Mevalonic aciduria [RCV004700401] Chr12:109591262 [GRCh38]
Chr12:110029067 [GRCh37]
Chr12:12q24.11		 pathogenic|not provided
NM_000431.4(MVK):c.794T>C (p.Leu265Pro) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083878] Chr12:109591266 [GRCh38]
Chr12:110029071 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.794T>G (p.Leu265Arg) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083879]|Retinal dystrophy [RCV001073278] Chr12:109591266 [GRCh38]
Chr12:110029071 [GRCh37]
Chr12:12q24.11		 likely pathogenic|not provided
NM_000431.4(MVK):c.79_226del (p.Val27Serfs) deletion Hyperimmunoglobulin D with periodic fever [RCV000083880]   not provided
NM_000431.4(MVK):c.815C>T (p.Ser272Phe) single nucleotide variant Autoinflammatory syndrome [RCV002262664]|Hyperimmunoglobulin D with periodic fever [RCV000083881]|not provided [RCV004566976] Chr12:109591287 [GRCh38]
Chr12:110029092 [GRCh37]
Chr12:12q24.11		 uncertain significance|not provided
NM_000431.4(MVK):c.829C>T (p.Arg277Cys) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083882]|Mevalonic aciduria [RCV002514466]|not provided [RCV003480055] Chr12:109591301 [GRCh38]
Chr12:110029106 [GRCh37]
Chr12:12q24.11		 pathogenic|likely pathogenic|not provided
NM_000431.4(MVK):c.830G>A (p.Arg277His) single nucleotide variant Autoinflammatory syndrome [RCV002262665]|Hyperimmunoglobulin D with periodic fever [RCV000083883]|Mevalonic aciduria [RCV000693669] Chr12:109591302 [GRCh38]
Chr12:110029107 [GRCh37]
Chr12:12q24.11		 pathogenic|likely pathogenic|not provided
NM_000431.4(MVK):c.831C>T (p.Arg277=) single nucleotide variant Autoinflammatory syndrome [RCV002262666]|Hyperimmunoglobulin D with periodic fever [RCV000083884]|Mevalonic aciduria [RCV000400344]|Mevalonic aciduria [RCV000559530]|Retinal dystrophy [RCV003888452]|not provided [RCV001618260]|not specified [RCV000242677] Chr12:109591303 [GRCh38]
Chr12:110029108 [GRCh37]
Chr12:12q24.11		 benign|likely benign|not provided
NM_000431.4(MVK):c.857C>T (p.Pro286Leu) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083885]|Mevalonic aciduria [RCV000267148]|Mevalonic aciduria [RCV002483166] Chr12:109591329 [GRCh38]
Chr12:110029134 [GRCh37]
Chr12:12q24.11		 uncertain significance|not provided
NM_000431.4(MVK):c.863C>T (p.Pro288Leu) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083886]|Mevalonic aciduria [RCV000688958]|Mevalonic aciduria [RCV003448262]|not provided [RCV001664395] Chr12:109591335 [GRCh38]
Chr12:110029140 [GRCh37]
Chr12:12q24.11		 uncertain significance|not provided
NM_000431.4(MVK):c.86del (p.Leu29fs) deletion Hyperimmunoglobulin D with periodic fever [RCV000083887] Chr12:109576005 [GRCh38]
Chr12:110013810 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.877G>A (p.Val293Met) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083888]|Inborn genetic diseases [RCV002514467]|Mevalonic aciduria [RCV001339250]|not provided [RCV001701501]|not specified [RCV003987360] Chr12:109591349 [GRCh38]
Chr12:110029154 [GRCh37]
Chr12:12q24.11		 uncertain significance|not provided
NM_000431.4(MVK):c.925G>A (p.Gly309Ser) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083889]|not provided [RCV001701744] Chr12:109595067 [GRCh38]
Chr12:110032872 [GRCh37]
Chr12:12q24.11		 pathogenic|likely pathogenic|not provided
NM_000431.4(MVK):c.965C>G (p.Thr322Ser) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083891] Chr12:109595107 [GRCh38]
Chr12:110032912 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.976G>A (p.Gly326Arg) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083892]|Mevalonic aciduria [RCV002513867] Chr12:109595118 [GRCh38]
Chr12:110032923 [GRCh37]
Chr12:12q24.11		 pathogenic|not provided
NM_000431.4(MVK):c.986G>A (p.Ser329Asn) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083893]|Mevalonic aciduria [RCV003764777] Chr12:109595128 [GRCh38]
Chr12:110032933 [GRCh37]
Chr12:12q24.11		 uncertain significance|not provided
NM_000431.4(MVK):c.987C>A (p.Ser329Arg) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000083894] Chr12:109595129 [GRCh38]
Chr12:110032934 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.1(MVK):c.-325A>T single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000084151] Chr12:109573563 [GRCh38]
Chr12:110011368 [GRCh37]
Chr12:12q24.11		 not provided
NM_000431.4(MVK):c.155G>A (p.Ser52Asn) single nucleotide variant Autoinflammatory syndrome [RCV002262709]|Hyperimmunoglobulin D with periodic fever [RCV000343154]|Methylmalonic acidemia [RCV000345327]|Mevalonic aciduria [RCV000286141]|Mevalonic aciduria [RCV001514415]|not provided [RCV001725124]|not specified [RCV000117650] Chr12:109576074 [GRCh38]
Chr12:110013879 [GRCh37]
Chr12:12q24.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000431.4(MVK):c.405G>A (p.Ser135=) single nucleotide variant Autoinflammatory syndrome [RCV002262710]|Hyperimmunoglobulin D with periodic fever [RCV000259296]|Mevalonic aciduria [RCV000316822]|Mevalonic aciduria [RCV000545657]|not provided [RCV001538099]|not specified [RCV000117651] Chr12:109581428 [GRCh38]
Chr12:110019233 [GRCh37]
Chr12:12q24.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000431.4(MVK):c.510C>T (p.Asp170=) single nucleotide variant Autoinflammatory syndrome [RCV002262711]|Hyperimmunoglobulin D with periodic fever [RCV000286775]|Mevalonic aciduria [RCV000378359]|Mevalonic aciduria [RCV001516697]|Retinal dystrophy [RCV003888515]|not provided [RCV001705847]|not specified [RCV000117652] Chr12:109581533 [GRCh38]
Chr12:110019338 [GRCh37]
Chr12:12q24.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000431.4(MVK):c.632-18A>G single nucleotide variant Mevalonic aciduria [RCV001516698]|not provided [RCV001812075]|not specified [RCV000250092] Chr12:109586736 [GRCh38]
Chr12:109586736..109586737 [GRCh38]
Chr12:110024541 [GRCh37]
Chr12:110024541..110024542 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.381G>A (p.Pro127=) single nucleotide variant Autoinflammatory syndrome [RCV002262731]|Hyperimmunoglobulin D with periodic fever [RCV000356809]|Mevalonic aciduria [RCV000318327]|Mevalonic aciduria [RCV001080404]|not provided [RCV000756367]|not specified [RCV000126896] Chr12:109581404 [GRCh38]
Chr12:110019209 [GRCh37]
Chr12:12q24.11		 benign|likely benign|uncertain significance
NM_000431.4(MVK):c.441C>T (p.Ala147=) single nucleotide variant Autoinflammatory syndrome [RCV002262732]|Hyperimmunoglobulin D with periodic fever [RCV001112785]|Mevalonic aciduria [RCV001089231]|Mevalonic aciduria [RCV001110797]|not provided [RCV000726083]|not specified [RCV000126897] Chr12:109581464 [GRCh38]
Chr12:110019269 [GRCh37]
Chr12:12q24.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000431.4(MVK):c.413C>T (p.Pro138Leu) single nucleotide variant not provided [RCV001812418] Chr12:109581436 [GRCh38]
Chr12:110019241 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.747C>A (p.Gly249=) single nucleotide variant Mevalonic aciduria [RCV001494471] Chr12:109590840 [GRCh38]
Chr12:110028645 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.79-176G>A single nucleotide variant not provided [RCV001572385] Chr12:109575822 [GRCh38]
Chr12:110013627 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.924C>T (p.Leu308=) single nucleotide variant Autoinflammatory syndrome [RCV002262765]|Hyperimmunoglobulin D with periodic fever [RCV001110868]|Mevalonic aciduria [RCV001085707]|Mevalonic aciduria [RCV001110867]|not provided [RCV000724566]|not specified [RCV000194317] Chr12:109595066 [GRCh38]
Chr12:110032871 [GRCh37]
Chr12:12q24.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 12q24.11(chr12:109398462-109637311)x3 copy number gain See cases [RCV000136780] Chr12:109398462..109637311 [GRCh38]
Chr12:109836267..110075116 [GRCh37]
Chr12:108320650..108559499 [NCBI36]
Chr12:12q24.11		 benign
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
NM_000431.4(MVK):c.1039+1G>A single nucleotide variant Porokeratosis 3, disseminated superficial actinic type [RCV000201792] Chr12:109595182 [GRCh38]
Chr12:110032987 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.2(MVK):c.-1880_527+533del deletion Porokeratosis 3, disseminated superficial actinic type [RCV000201788] Chr12:109572008..109582083 [GRCh38]
Chr12:110009813..110019888 [GRCh37]
Chr12:12q24.11		 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_000431.4(MVK):c.151C>T (p.Leu51Phe) single nucleotide variant not provided [RCV000756368] Chr12:109576070 [GRCh38]
Chr12:110013875 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.802A>G (p.Ile268Val) single nucleotide variant Mevalonic aciduria [RCV001340239]|not provided [RCV000213141] Chr12:109591274 [GRCh38]
Chr12:110029079 [GRCh37]
Chr12:12q24.11		 likely pathogenic|uncertain significance
NM_052845.4(MMAB):c.2T>C (p.Met1Thr) single nucleotide variant Methylmalonic aciduria, cblB type [RCV000210846] Chr12:109573479 [GRCh38]
Chr12:110011284 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.32C>T (p.Pro11Leu) single nucleotide variant Mevalonic aciduria [RCV002516190]|not provided [RCV000214007] Chr12:109574854 [GRCh38]
Chr12:110012659 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.227-18T>C single nucleotide variant not provided [RCV000220735] Chr12:109579784 [GRCh38]
Chr12:110017589 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.14T>C (p.Val5Ala) single nucleotide variant Autoinflammatory syndrome [RCV002262823]|Hyperimmunoglobulin D with periodic fever [RCV001110713]|Mevalonic aciduria [RCV001052087]|Mevalonic aciduria [RCV001112691]|not provided [RCV000220987] Chr12:109574836 [GRCh38]
Chr12:110012641 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.226+4A>G single nucleotide variant Autoinflammatory syndrome [RCV002262824]|Hyperimmunoglobulin D with periodic fever [RCV001114045]|MVK-related disorder [RCV004532813]|Mevalonic aciduria [RCV000533329]|Mevalonic aciduria [RCV001114046]|not provided [RCV001722201] Chr12:109576149 [GRCh38]
Chr12:110013954 [GRCh37]
Chr12:12q24.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000431.4(MVK):c.819G>A (p.Leu273=) single nucleotide variant Mevalonic aciduria [RCV003765447]|not provided [RCV000218737] Chr12:109591291 [GRCh38]
Chr12:110029096 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_000431.4(MVK):c.643C>T (p.Arg215Ter) single nucleotide variant Mevalonic aciduria [RCV001215092]|not provided [RCV000221444] Chr12:109586765 [GRCh38]
Chr12:110024570 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.624C>T (p.Ser208=) single nucleotide variant Mevalonic aciduria [RCV003765478]|not specified [RCV000237078] Chr12:109586118 [GRCh38]
Chr12:110023923 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.78+7_78+10del deletion MVK-related disorder [RCV004532983]|Mevalonic aciduria [RCV000885892]|not provided [RCV003221881]|not specified [RCV000235967] Chr12:109574907..109574910 [GRCh38]
Chr12:110012712..110012715 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.789C>G (p.Pro263=) single nucleotide variant Mevalonic aciduria [RCV000945468]|not specified [RCV000236622] Chr12:109591261 [GRCh38]
Chr12:110029066 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_000431.4(MVK):c.876C>T (p.Leu292=) single nucleotide variant Autoinflammatory syndrome [RCV002262858]|Hyperimmunoglobulin D with periodic fever [RCV001110866]|Mevalonic aciduria [RCV000933984]|Mevalonic aciduria [RCV001110101]|not provided [RCV001528660]|not specified [RCV000237041] Chr12:109591348 [GRCh38]
Chr12:110029153 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_052845.4(MMAB):c.57C>A (p.Arg19=) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000386273]|Methylmalonic acidemia [RCV000399708]|Methylmalonic aciduria, cblB type [RCV000616305]|Mevalonic aciduria [RCV000294302]|not provided [RCV001610742]|not specified [RCV000252654] Chr12:109573424 [GRCh38]
Chr12:110011229 [GRCh37]
Chr12:12q24.11		 benign
NM_052845.4(MMAB):c.56G>A (p.Arg19His) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000389849]|Methylmalonic acidemia [RCV000298750]|Methylmalonic aciduria, cblB type [RCV000605966]|Mevalonic aciduria [RCV000351606]|not provided [RCV001668597]|not specified [RCV000247935] Chr12:109573425 [GRCh38]
Chr12:110011230 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.371+8C>T single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000314746]|Mevalonic aciduria [RCV000391679]|Mevalonic aciduria [RCV001521832]|not provided [RCV001651126]|not specified [RCV000250476] Chr12:109579954 [GRCh38]
Chr12:110017759 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_000431.4(MVK):c.1040-5C>T single nucleotide variant Mevalonic aciduria [RCV001455107]|not specified [RCV000253114] Chr12:109596421 [GRCh38]
Chr12:110034226 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.-15+11G>A single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000374760]|Mevalonic aciduria [RCV000282519]|not provided [RCV004705235]|not specified [RCV000425122] Chr12:109573884 [GRCh38]
Chr12:110011689 [GRCh37]
Chr12:12q24.11		 benign|likely benign|uncertain significance
NM_000431.4(MVK):c.*468C>T single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000302244]|Mevalonic aciduria [RCV000398477] Chr12:109597045 [GRCh38]
Chr12:110034850 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.317G>A (p.Arg106His) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000346491]|Mevalonic aciduria [RCV000400709]|Mevalonic aciduria [RCV002480115] Chr12:109579892 [GRCh38]
Chr12:110017697 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.*660G>A single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000332777]|Mevalonic aciduria [RCV000270594] Chr12:109597237 [GRCh38]
Chr12:110035042 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_000431.4(MVK):c.*58dup duplication Hyperimmunoglobulin D with periodic fever [RCV000385099]|Mevalonic aciduria [RCV000268790]|Mevalonic aciduria [RCV001516699]|not provided [RCV001597063]|not specified [RCV003488519] Chr12:109596630..109596631 [GRCh38]
Chr12:110034435..110034436 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_052845.3(MMAB):c.-49G>A single nucleotide variant Methylmalonic acidemia [RCV000304786] Chr12:109573529 [GRCh38]
Chr12:110011334 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.331G>A (p.Ala111Thr) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000307076]|Mevalonic aciduria [RCV000363977]|Mevalonic aciduria [RCV001223629]|not provided [RCV001812793] Chr12:109579906 [GRCh38]
Chr12:110017711 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.527+13C>A single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000290313]|Mevalonic aciduria [RCV000347435]|Mevalonic aciduria [RCV002520784] Chr12:109581563 [GRCh38]
Chr12:110019368 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_000431.4(MVK):c.*601G>A single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000310374]|Mevalonic aciduria [RCV000362916] Chr12:109597178 [GRCh38]
Chr12:110034983 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.-15G>A single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000274491]|Mevalonic aciduria [RCV000331789]|Mevalonic aciduria [RCV002480114] Chr12:109573873 [GRCh38]
Chr12:110011678 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.371+13T>C single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000274865]|Mevalonic aciduria [RCV000367061]|Mevalonic aciduria [RCV002056261]|not provided [RCV001612973] Chr12:109579959 [GRCh38]
Chr12:110017764 [GRCh37]
Chr12:12q24.11		 benign|likely benign|uncertain significance
NM_000431.4(MVK):c.78+8G>A single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000316506]|Mevalonic aciduria [RCV000373574]|Mevalonic aciduria [RCV002056260] Chr12:109574908 [GRCh38]
Chr12:110012713 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_000431.4(MVK):c.*431C>T single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000298926]|Mevalonic aciduria [RCV000342205] Chr12:109597008 [GRCh38]
Chr12:110034813 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.*332C>T single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000281555]|Mevalonic aciduria [RCV000387605] Chr12:109596909 [GRCh38]
Chr12:110034714 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.527+8T>C single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000377665]|Mevalonic aciduria [RCV000320816]|Mevalonic aciduria [RCV001483816] Chr12:109581558 [GRCh38]
Chr12:110019363 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_000431.4(MVK):c.*550G>A single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000359303]|Mevalonic aciduria [RCV000271608] Chr12:109597127 [GRCh38]
Chr12:110034932 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.*75T>G single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000326137]|Mevalonic aciduria [RCV000387651] Chr12:109596652 [GRCh38]
Chr12:110034457 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_052845.4(MMAB):c.-9G>T single nucleotide variant Methylmalonic acidemia [RCV000402027]|Methylmalonic aciduria, cblB type [RCV001833453]|not specified [RCV000600720] Chr12:109573489 [GRCh38]
Chr12:110011294 [GRCh37]
Chr12:12q24.11		 benign|likely benign|uncertain significance
NM_000431.4(MVK):c.1163G>A (p.Arg388Gln) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000328212]|MVK-related disorder [RCV004529550]|Mevalonic aciduria [RCV000266093]|Mevalonic aciduria [RCV000821340] Chr12:109596549 [GRCh38]
Chr12:110034354 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.780C>A (p.Ile260=) single nucleotide variant Autoinflammatory syndrome [RCV002262959]|Hyperimmunoglobulin D with periodic fever [RCV000312723]|Mevalonic aciduria [RCV000337228]|Mevalonic aciduria [RCV000547256]|not provided [RCV001711911] Chr12:109591252 [GRCh38]
Chr12:110029057 [GRCh37]
Chr12:12q24.11		 benign|likely benign|uncertain significance
NM_052845.4(MMAB):c.-4G>C single nucleotide variant Methylmalonic aciduria, cblB type [RCV000335052]|not provided [RCV001612972] Chr12:109573484 [GRCh38]
Chr12:110011289 [GRCh37]
Chr12:12q24.11		 benign|uncertain significance
NM_000431.4(MVK):c.*412C>T single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000402297]|Mevalonic aciduria [RCV000338887] Chr12:109596989 [GRCh38]
Chr12:110034794 [GRCh37]
Chr12:12q24.11		 benign|uncertain significance
NM_000431.4(MVK):c.-55G>C single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000268711]|Mevalonic aciduria [RCV000365449] Chr12:109573833 [GRCh38]
Chr12:110011638 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.904C>T (p.Gln302Ter) single nucleotide variant MVK-related disorder [RCV000305900]|Mevalonic aciduria [RCV001384473]|not provided [RCV000489947] Chr12:109595046 [GRCh38]
Chr12:110032851 [GRCh37]
Chr12:12q24.11		 pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_000431.4(MVK):c.302G>A (p.Cys101Tyr) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000284532]|Mevalonic aciduria [RCV000395752] Chr12:109579877 [GRCh38]
Chr12:110017682 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.*308G>A single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000295719]|Mevalonic aciduria [RCV000349344] Chr12:109596885 [GRCh38]
Chr12:110034690 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.598C>T (p.Pro200Ser) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000399509]|Mevalonic aciduria [RCV000350980] Chr12:109586092 [GRCh38]
Chr12:110023897 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.-33G>A single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000326071]|Mevalonic aciduria [RCV000371377] Chr12:109573855 [GRCh38]
Chr12:110011660 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_052845.4(MMAB):c.288T>C (p.Ile96=) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV000262496]|Methylmalonic acidemia [RCV000338611]|Methylmalonic aciduria, cblB type [RCV000555922]|Mevalonic aciduria [RCV000319952]|not provided [RCV004704846]|not specified [RCV000082326] Chr12:109568772 [GRCh38]
Chr12:110006577 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_000431.3(MVK):c.-178A>G single nucleotide variant Autoinflammatory syndrome [RCV002262958]|Hyperimmunoglobulin D with periodic fever [RCV000392326]|Methylmalonic acidemia [RCV000288056]|Mevalonic aciduria [RCV000310767]|not provided [RCV001546405] Chr12:109573710 [GRCh38]
Chr12:110011515 [GRCh37]
Chr12:12q24.11		 benign|likely benign|uncertain significance
NM_052845.3(MMAB):c.-69G>A single nucleotide variant Methylmalonic acidemia [RCV000359636]|Methylmalonic aciduria, cblB type [RCV000672426] Chr12:109573549 [GRCh38]
Chr12:110011354 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.768+4A>G single nucleotide variant Mevalonic aciduria [RCV000578362] Chr12:109590865 [GRCh38]
Chr12:110028670 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_000431.4(MVK):c.936C>T (p.His312=) single nucleotide variant Mevalonic aciduria [RCV003767319]|not provided [RCV000584990] Chr12:109595078 [GRCh38]
Chr12:110032883 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_000431.4(MVK):c.719C>G (p.Pro240Arg) single nucleotide variant Mevalonic aciduria [RCV002491159]|not provided [RCV000585469] Chr12:109590812 [GRCh38]
Chr12:110028617 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.1039+8G>C single nucleotide variant Mevalonic aciduria [RCV000552637] Chr12:109595189 [GRCh38]
Chr12:110032994 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.785C>T (p.Ala262Val) single nucleotide variant Inborn genetic diseases [RCV004023574]|Mevalonic aciduria [RCV000798356]|not provided [RCV000523963] Chr12:109591257 [GRCh38]
Chr12:110029062 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.287G>T (p.Gly96Val) single nucleotide variant not provided [RCV000732569] Chr12:109579862 [GRCh38]
Chr12:110017667 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.-29C>T single nucleotide variant not specified [RCV000438942] Chr12:109573859 [GRCh38]
Chr12:110011664 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.700C>T (p.Leu234=) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV002446720]|MVK-related disorder [RCV004732879]|Mevalonic aciduria [RCV001391915]|not provided [RCV001704454] Chr12:109590793 [GRCh38]
Chr12:110028598 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.942T>A (p.Ser314=) single nucleotide variant Mevalonic aciduria [RCV001402488]|not provided [RCV001712197] Chr12:109595084 [GRCh38]
Chr12:110032889 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.-15+16C>T single nucleotide variant Mevalonic aciduria [RCV002481330]|not specified [RCV000423267] Chr12:109573889 [GRCh38]
Chr12:110011694 [GRCh37]
Chr12:12q24.11		 likely benign
GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)x1 copy number loss See cases [RCV000445832] Chr12:103044333..111639805 [GRCh37]
Chr12:12q23.2-24.11		 likely pathogenic
NM_000431.4(MVK):c.832G>A (p.Val278Met) single nucleotide variant Mevalonic aciduria [RCV002475929]|not provided [RCV000483487] Chr12:109591304 [GRCh38]
Chr12:110029109 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.498C>A (p.Asn166Lys) single nucleotide variant not provided [RCV000497525] Chr12:109581521 [GRCh38]
Chr12:110019326 [GRCh37]
Chr12:12q24.11		 uncertain significance
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_000431.4(MVK):c.371+9G>A single nucleotide variant Mevalonic aciduria [RCV001434061]|not specified [RCV000506149] Chr12:109579955 [GRCh38]
Chr12:110017760 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.769-38C>T single nucleotide variant Autoinflammatory syndrome [RCV002263715]|Mevalonic aciduria [RCV001513222]|not provided [RCV001712470]|not specified [RCV003488641] Chr12:109591203 [GRCh38]
Chr12:110029008 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.677+12del deletion Mevalonic aciduria [RCV002527361]|not specified [RCV000506759] Chr12:109586807 [GRCh38]
Chr12:110024612 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.79-164T>G single nucleotide variant not provided [RCV001675912]|not specified [RCV000507457] Chr12:109575834 [GRCh38]
Chr12:109575834..109575835 [GRCh38]
Chr12:110013639 [GRCh37]
Chr12:110013639..110013640 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.78+61A>G single nucleotide variant not provided [RCV001637057]|not specified [RCV000507585] Chr12:109574961 [GRCh38]
Chr12:110012766 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.885+24G>A single nucleotide variant not provided [RCV001683543]|not specified [RCV000507822] Chr12:109591381 [GRCh38]
Chr12:109591381..109591382 [GRCh38]
Chr12:110029186 [GRCh37]
Chr12:110029186..110029187 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.975C>T (p.Arg325=) single nucleotide variant Autoinflammatory syndrome [RCV002263886]|Mevalonic aciduria [RCV000645105]|not provided [RCV000994975] Chr12:109595117 [GRCh38]
Chr12:110032922 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_000431.4(MVK):c.864G>A (p.Pro288=) single nucleotide variant Mevalonic aciduria [RCV000645102] Chr12:109591336 [GRCh38]
Chr12:110029141 [GRCh37]
Chr12:12q24.11		 likely benign
NC_000012.12:g.109573660G>A single nucleotide variant Methylmalonic aciduria, cblB type [RCV000642155]|not provided [RCV002060747]|not specified [RCV000734386] Chr12:109573660 [GRCh38]
Chr12:110011465 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.-14-8C>T single nucleotide variant not specified [RCV000609467] Chr12:109574801 [GRCh38]
Chr12:110012606 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.618T>A (p.Ala206=) single nucleotide variant Mevalonic aciduria [RCV001434934]|not specified [RCV000610415] Chr12:109586112 [GRCh38]
Chr12:110023917 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.3(MMAB):c.-30G>T single nucleotide variant not specified [RCV000608165] Chr12:109573510 [GRCh38]
Chr12:110011315 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.-7C>G single nucleotide variant MMAB-related disorder [RCV003905627]|not specified [RCV000614826] Chr12:109573487 [GRCh38]
Chr12:110011292 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.634G>A (p.Gly212Arg) single nucleotide variant not provided [RCV000512937] Chr12:109586756 [GRCh38]
Chr12:110024561 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_000431.4(MVK):c.520G>T (p.Val174Phe) single nucleotide variant Mevalonic aciduria [RCV003790907] Chr12:109581543 [GRCh38]
Chr12:110019348 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.518G>A (p.Cys173Tyr) single nucleotide variant MVK-related disorder [RCV004533440]|Mevalonic aciduria [RCV001855379]|not provided [RCV000658667] Chr12:109581541 [GRCh38]
Chr12:110019346 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.349C>T (p.Leu117=) single nucleotide variant Mevalonic aciduria [RCV001086700]|not provided [RCV000658666] Chr12:109579924 [GRCh38]
Chr12:110017729 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.12C>A (p.Cys4Ter) single nucleotide variant Methylmalonic aciduria, cblB type [RCV000665638]|not provided [RCV001576371] Chr12:109573469 [GRCh38]
Chr12:110011274 [GRCh37]
Chr12:12q24.11		 pathogenic|likely pathogenic
NM_000431.4(MVK):c.119G>A (p.Arg40Gln) single nucleotide variant Mevalonic aciduria [RCV000702475]|not provided [RCV000757502] Chr12:109576038 [GRCh38]
Chr12:110013843 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.1096G>C (p.Asp366His) single nucleotide variant Mevalonic aciduria [RCV000692712] Chr12:109596482 [GRCh38]
Chr12:110034287 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.1051C>T (p.Pro351Ser) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV002466569]|Mevalonic aciduria [RCV000701139]|not specified [RCV001002446] Chr12:109596437 [GRCh38]
Chr12:110034242 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.545T>A (p.Leu182Ter) single nucleotide variant MVK-related disorder [RCV004544947]|Mevalonic aciduria [RCV000695407] Chr12:109586039 [GRCh38]
Chr12:110023844 [GRCh37]
Chr12:12q24.11		 pathogenic|likely pathogenic
NM_000431.4(MVK):c.595A>T (p.Asn199Tyr) single nucleotide variant Mevalonic aciduria [RCV000702878] Chr12:109586089 [GRCh38]
Chr12:110023894 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.886-293G>T single nucleotide variant not provided [RCV001548100] Chr12:109594735 [GRCh38]
Chr12:110032540 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.519C>T (p.Cys173=) single nucleotide variant Mevalonic aciduria [RCV003769379]|not specified [RCV001000686] Chr12:109581542 [GRCh38]
Chr12:110019347 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.945G>A (p.Leu315=) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV003493769]|Mevalonic aciduria [RCV001370355]|not specified [RCV001000904] Chr12:109595087 [GRCh38]
Chr12:110032892 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_000431.4(MVK):c.1039G>A (p.Gly347Arg) single nucleotide variant not provided [RCV001531168] Chr12:109595181 [GRCh38]
Chr12:110032986 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.362G>A (p.Arg121Gln) single nucleotide variant Mevalonic aciduria [RCV002501948]|not provided [RCV001582084] Chr12:109579937 [GRCh38]
Chr12:110017742 [GRCh37]
Chr12:12q24.11		 uncertain significance
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
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
NM_000431.4(MVK):c.226+106G>A single nucleotide variant not provided [RCV001609474] Chr12:109576251 [GRCh38]
Chr12:110014056 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.885+148C>T single nucleotide variant not provided [RCV001666029] Chr12:109591505 [GRCh38]
Chr12:110029310 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.678-243A>G single nucleotide variant not provided [RCV001678967] Chr12:109590528 [GRCh38]
Chr12:110028333 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.*76G>T single nucleotide variant not provided [RCV001611489] Chr12:109596653 [GRCh38]
Chr12:110034458 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.227-40C>G single nucleotide variant not provided [RCV001645085] Chr12:109579762 [GRCh38]
Chr12:110017567 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.768+117C>A single nucleotide variant not provided [RCV001681679] Chr12:109590978 [GRCh38]
Chr12:110028783 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.837G>A (p.Leu279=) single nucleotide variant not provided [RCV000939711] Chr12:109591309 [GRCh38]
Chr12:110029114 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.380C>T (p.Pro127Leu) single nucleotide variant Mevalonic aciduria [RCV001002699]|Retinal dystrophy [RCV003890156]|not provided [RCV003442138] Chr12:109581403 [GRCh38]
Chr12:110019208 [GRCh37]
Chr12:12q24.11		 pathogenic|likely pathogenic|uncertain significance
NM_000431.4(MVK):c.630G>A (p.Trp210Ter) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV001002702] Chr12:109586124 [GRCh38]
Chr12:110023929 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.1074G>A (p.Gln358=) single nucleotide variant not provided [RCV000761837] Chr12:109596460 [GRCh38]
Chr12:110034265 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.718C>T (p.Pro240Ser) single nucleotide variant Inborn genetic diseases [RCV003298933]|Mevalonic aciduria [RCV002488390]|not provided [RCV001570533] Chr12:109590811 [GRCh38]
Chr12:110028616 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.178C>T (p.Arg60Trp) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV001114043]|Mevalonic aciduria [RCV001114044]|Mevalonic aciduria [RCV001856503]|not provided [RCV001811663] Chr12:109576097 [GRCh38]
Chr12:110013902 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.528-18G>A single nucleotide variant Mevalonic aciduria [RCV003771836]|not provided [RCV001681637] Chr12:109586004 [GRCh38]
Chr12:110023809 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_000431.4(MVK):c.*358G>A single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV001114211]|Mevalonic aciduria [RCV001114212] Chr12:109596935 [GRCh38]
Chr12:110034740 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.769-181G>A single nucleotide variant not provided [RCV001669173] Chr12:109591060 [GRCh38]
Chr12:110028865 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.327G>A (p.Val109=) single nucleotide variant not provided [RCV000923484] Chr12:109579902 [GRCh38]
Chr12:110017707 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.724A>G (p.Asn242Asp) single nucleotide variant Mevalonic aciduria [RCV001057332] Chr12:109590817 [GRCh38]
Chr12:110028622 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.1073A>C (p.Gln358Pro) single nucleotide variant Mevalonic aciduria [RCV001059499] Chr12:109596459 [GRCh38]
Chr12:110034264 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.874C>T (p.Leu292Phe) single nucleotide variant Inborn genetic diseases [RCV002535777]|Mevalonic aciduria [RCV001037197]|not provided [RCV000788518] Chr12:109591346 [GRCh38]
Chr12:110029151 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.-14-17T>C single nucleotide variant Mevalonic aciduria [RCV002495198]|not provided [RCV000828082] Chr12:109574792 [GRCh38]
Chr12:110012597 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.294T>C (p.Pro98=) single nucleotide variant Mevalonic aciduria [RCV000983547] Chr12:109579869 [GRCh38]
Chr12:110017674 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.16C>T (p.Leu6=) single nucleotide variant Methylmalonic aciduria, cblB type [RCV000981568] Chr12:109573465 [GRCh38]
Chr12:110011270 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.937G>A (p.Ala313Thr) single nucleotide variant Mevalonic aciduria [RCV000799449] Chr12:109595079 [GRCh38]
Chr12:110032884 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.961G>A (p.Val321Met) single nucleotide variant Mevalonic aciduria [RCV000810842] Chr12:109595103 [GRCh38]
Chr12:110032908 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.689_690del (p.Leu230fs) microsatellite Hyperimmunoglobulin D with periodic fever [RCV000988902] Chr12:109590779..109590780 [GRCh38]
Chr12:110028584..110028585 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_000431.4(MVK):c.663T>G (p.Ile221Met) single nucleotide variant Inborn genetic diseases [RCV002535874]|Mevalonic aciduria [RCV000792517] Chr12:109586785 [GRCh38]
Chr12:110024590 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.227A>G (p.Glu76Gly) single nucleotide variant Mevalonic aciduria [RCV000795489] Chr12:109579802 [GRCh38]
Chr12:110017607 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.58C>A (p.His20Asn) single nucleotide variant Mevalonic aciduria [RCV000804120] Chr12:109574880 [GRCh38]
Chr12:110012685 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.372-302C>T single nucleotide variant not provided [RCV000840444] Chr12:109581093 [GRCh38]
Chr12:110018898 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.1039+284G>C single nucleotide variant not provided [RCV000840445] Chr12:109595465 [GRCh38]
Chr12:110033270 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.943_944del (p.Leu315fs) microsatellite Mevalonic aciduria [RCV001797820]|Mevalonic aciduria [RCV002489730]|not provided [RCV001090937] Chr12:109595081..109595082 [GRCh38]
Chr12:110032886..110032887 [GRCh37]
Chr12:12q24.11		 pathogenic|likely pathogenic
NM_052845.4(MMAB):c.1A>C (p.Met1Leu) single nucleotide variant Methylmalonic aciduria, cblB type [RCV001067639] Chr12:109573480 [GRCh38]
Chr12:110011285 [GRCh37]
Chr12:12q24.11		 pathogenic|likely pathogenic|uncertain significance
NM_052845.4(MMAB):c.7G>A (p.Val3Met) single nucleotide variant Methylmalonic aciduria, cblB type [RCV001113946] Chr12:109573474 [GRCh38]
Chr12:110011279 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.484G>A (p.Glu162Lys) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV001112787]|Mevalonic aciduria [RCV000824486]|Mevalonic aciduria [RCV001112786] Chr12:109581507 [GRCh38]
Chr12:110019312 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.371+313_371+314insCC insertion not provided [RCV000840457] Chr12:109580259..109580260 [GRCh38]
Chr12:110018064..110018065 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.349_350del (p.Leu117fs) deletion Hyperimmunoglobulin D with periodic fever [RCV003989122]|not provided [RCV000788596] Chr12:109579924..109579925 [GRCh38]
Chr12:110017729..110017730 [GRCh37]
Chr12:12q24.11		 pathogenic|likely pathogenic
NM_000431.4(MVK):c.371+1GT[4] microsatellite Mevalonic aciduria [RCV000795315] Chr12:109579946..109579947 [GRCh38]
Chr12:110017751..110017752 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.166A>G (p.Ile56Val) single nucleotide variant Mevalonic aciduria [RCV000823152] Chr12:109576085 [GRCh38]
Chr12:110013890 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_052845.4(MMAB):c.-11C>G single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV001109915]|Methylmalonic aciduria, cblB type [RCV001113947]|Mevalonic aciduria [RCV001109914] Chr12:109573491 [GRCh38]
Chr12:110011296 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.258G>A (p.Glu86=) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV001110009]|Mevalonic aciduria [RCV001114048]|Mevalonic aciduria [RCV001520566]|Retinal dystrophy [RCV003890253] Chr12:109579833 [GRCh38]
Chr12:110017638 [GRCh37]
Chr12:12q24.11		 benign|likely benign|uncertain significance
NM_000431.4(MVK):c.79-2A>G single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV003142150]|Mevalonic aciduria [RCV001213473] Chr12:109575996 [GRCh38]
Chr12:110013801 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_000431.4(MVK):c.*90G>A single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV001112857]|Mevalonic aciduria [RCV001110869] Chr12:109596667 [GRCh38]
Chr12:110034472 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.*333G>A single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV001112860]|Mevalonic aciduria [RCV001114210] Chr12:109596910 [GRCh38]
Chr12:110034715 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.678-3C>A single nucleotide variant Mevalonic aciduria [RCV001239363] Chr12:109590768 [GRCh38]
Chr12:110028573 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.1175C>T (p.Ala392Val) single nucleotide variant Mevalonic aciduria [RCV001206135] Chr12:109596561 [GRCh38]
Chr12:110034366 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.349C>G (p.Leu117Val) single nucleotide variant Mevalonic aciduria [RCV001240888] Chr12:109579924 [GRCh38]
Chr12:110017729 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.449C>T (p.Ser150Leu) single nucleotide variant Mevalonic aciduria [RCV001209009] Chr12:109581472 [GRCh38]
Chr12:110019277 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.722G>A (p.Arg241His) single nucleotide variant Mevalonic aciduria [RCV001210896] Chr12:109590815 [GRCh38]
Chr12:110028620 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.768+182T>A single nucleotide variant not provided [RCV001713341] Chr12:109591043 [GRCh38]
Chr12:110028848 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.768+12T>G single nucleotide variant not provided [RCV001670995] Chr12:109590873 [GRCh38]
Chr12:110028678 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.885+92G>A single nucleotide variant not provided [RCV001639446] Chr12:109591449 [GRCh38]
Chr12:110029254 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.528-155G>A single nucleotide variant not provided [RCV001656239] Chr12:109585867 [GRCh38]
Chr12:110023672 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.18A>G (p.Leu6=) single nucleotide variant Mevalonic aciduria [RCV003771644]|not provided [RCV001531166] Chr12:109574840 [GRCh38]
Chr12:110012645 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.10T>C (p.Cys4Arg) single nucleotide variant MMAB-related disorder [RCV003910420]|Methylmalonic aciduria, cblB type [RCV000883287] Chr12:109573471 [GRCh38]
Chr12:110011276 [GRCh37]
Chr12:12q24.11		 likely benign|conflicting interpretations of pathogenicity
NM_000431.4(MVK):c.1039+7C>T single nucleotide variant Autoinflammatory syndrome [RCV002264109]|Mevalonic aciduria [RCV000941045] Chr12:109595188 [GRCh38]
Chr12:110032993 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_000431.4(MVK):c.504G>A (p.Leu168=) single nucleotide variant Mevalonic aciduria [RCV003768905] Chr12:109581527 [GRCh38]
Chr12:110019332 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.527+9G>A single nucleotide variant Mevalonic aciduria [RCV001481459] Chr12:109581559 [GRCh38]
Chr12:110019364 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.527+10G>A single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV001114133]|Mevalonic aciduria [RCV000974783]|Mevalonic aciduria [RCV001112788]|not provided [RCV003736946] Chr12:109581560 [GRCh38]
Chr12:110019365 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_000431.4(MVK):c.678-8C>A single nucleotide variant Mevalonic aciduria [RCV002540962] Chr12:109590763 [GRCh38]
Chr12:110028568 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.361C>T (p.Arg121Trp) single nucleotide variant Autoinflammatory syndrome [RCV002264149]|Mevalonic aciduria [RCV001038599]|not provided [RCV001836933] Chr12:109579936 [GRCh38]
Chr12:110017741 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.520G>A (p.Val174Ile) single nucleotide variant Mevalonic aciduria [RCV001060711] Chr12:109581543 [GRCh38]
Chr12:110019348 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.33G>A (p.Pro11=) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV001112692]|Mevalonic aciduria [RCV001112693]|Mevalonic aciduria [RCV003769133]|Retinal dystrophy [RCV003890254] Chr12:109574855 [GRCh38]
Chr12:110012660 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_000431.4(MVK):c.1126G>A (p.Gly376Ser) single nucleotide variant Mevalonic aciduria [RCV001227276] Chr12:109596512 [GRCh38]
Chr12:110034317 [GRCh37]
Chr12:12q24.11		 pathogenic|uncertain significance
NM_000431.4(MVK):c.80T>G (p.Val27Gly) single nucleotide variant Inborn genetic diseases [RCV002561815]|Mevalonic aciduria [RCV001213476] Chr12:109575999 [GRCh38]
Chr12:110013804 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.297C>T (p.Asp99=) single nucleotide variant Mevalonic aciduria [RCV001428727]|not provided [RCV000912022] Chr12:109579872 [GRCh38]
Chr12:110017677 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.886-172T>C single nucleotide variant not provided [RCV001561938] Chr12:109594856 [GRCh38]
Chr12:110032661 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.78G>A (p.Lys26=) single nucleotide variant not provided [RCV001547901] Chr12:109574900 [GRCh38]
Chr12:110012705 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.528-100A>G single nucleotide variant not provided [RCV001570013] Chr12:109585922 [GRCh38]
Chr12:110023727 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.768+86G>C single nucleotide variant not provided [RCV001593908] Chr12:109590947 [GRCh38]
Chr12:110028752 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1039+196C>T single nucleotide variant not provided [RCV001655473] Chr12:109595377 [GRCh38]
Chr12:110033182 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.677+103T>C single nucleotide variant not provided [RCV001687222] Chr12:109586902 [GRCh38]
Chr12:110024707 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.226+105C>T single nucleotide variant not provided [RCV001675112]|not specified [RCV003401593] Chr12:109576250 [GRCh38]
Chr12:110014055 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.226+180A>G single nucleotide variant not provided [RCV001592549] Chr12:109576325 [GRCh38]
Chr12:110014130 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.678-7C>A single nucleotide variant not provided [RCV001597686] Chr12:109590764 [GRCh38]
Chr12:110028569 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.768+24C>T single nucleotide variant not provided [RCV001659477] Chr12:109590885 [GRCh38]
Chr12:110028690 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.226+8C>T single nucleotide variant not provided [RCV001656108] Chr12:109576153 [GRCh38]
Chr12:110013958 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.1040-91G>A single nucleotide variant not provided [RCV001654874] Chr12:109596335 [GRCh38]
Chr12:110034140 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.-14-104C>G single nucleotide variant not provided [RCV001717154] Chr12:109574705 [GRCh38]
Chr12:110012510 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.528-138G>A single nucleotide variant not provided [RCV001620562] Chr12:109585884 [GRCh38]
Chr12:110023689 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.*168C>T single nucleotide variant not provided [RCV001715071] Chr12:109596745 [GRCh38]
Chr12:110034550 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.216A>G (p.Thr72=) single nucleotide variant Mevalonic aciduria [RCV002538636]|not provided [RCV001699862] Chr12:109576135 [GRCh38]
Chr12:110013940 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.678-38T>C single nucleotide variant not provided [RCV001638265] Chr12:109590733 [GRCh38]
Chr12:110028538 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.*566G>C single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV001110177]|Mevalonic aciduria [RCV001110176] Chr12:109597143 [GRCh38]
Chr12:110034948 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.*125G>T single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV001112859]|Mevalonic aciduria [RCV001112858] Chr12:109596702 [GRCh38]
Chr12:110034507 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.298G>A (p.Asp100Asn) single nucleotide variant Autoinflammatory syndrome [RCV002264178]|Mevalonic aciduria [RCV001070922]|not provided [RCV001090934] Chr12:109579873 [GRCh38]
Chr12:110017678 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.*486C>T single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV001110174]|Mevalonic aciduria [RCV001110175] Chr12:109597063 [GRCh38]
Chr12:110034868 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.*571G>A single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV001110937]|Mevalonic aciduria [RCV001110178] Chr12:109597148 [GRCh38]
Chr12:110034953 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.974G>A (p.Arg325His) single nucleotide variant Autoinflammatory syndrome [RCV002264139]|Mevalonic aciduria [RCV001225844]|not specified [RCV001001117] Chr12:109595116 [GRCh38]
Chr12:110032921 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.78+105A>G single nucleotide variant not provided [RCV001615428] Chr12:109575005 [GRCh38]
Chr12:110012810 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.987C>G (p.Ser329Arg) single nucleotide variant Mevalonic aciduria [RCV001052205]|not provided [RCV004702606] Chr12:109595129 [GRCh38]
Chr12:110032934 [GRCh37]
Chr12:12q24.11		 pathogenic|likely pathogenic|uncertain significance
NM_000431.4(MVK):c.-14-147G>T single nucleotide variant not provided [RCV001710701] Chr12:109574662 [GRCh38]
Chr12:110012467 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.870G>T (p.Gln290His) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV001110100]|Mevalonic aciduria [RCV001058748]|Mevalonic aciduria [RCV001110099] Chr12:109591342 [GRCh38]
Chr12:110029147 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.885+117C>A single nucleotide variant not provided [RCV001534042] Chr12:109591474 [GRCh38]
Chr12:110029279 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.885+51A>C single nucleotide variant not provided [RCV001666055] Chr12:109591408 [GRCh38]
Chr12:110029213 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.78+265A>G single nucleotide variant not provided [RCV001586405] Chr12:109575165 [GRCh38]
Chr12:110012970 [GRCh37]
Chr12:12q24.11		 likely benign
NC_000012.12:g.109573681T>A single nucleotide variant not provided [RCV001587641] Chr12:109573681 [GRCh38]
Chr12:110011486 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.527+53C>T single nucleotide variant not provided [RCV001668706] Chr12:109581603 [GRCh38]
Chr12:110019408 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.768+101T>G single nucleotide variant not provided [RCV001649864] Chr12:109590962 [GRCh38]
Chr12:110028767 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.681G>A (p.Ser227=) single nucleotide variant Mevalonic aciduria [RCV001247038] Chr12:109590774 [GRCh38]
Chr12:110028579 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
GRCh37/hg19 12q24.11(chr12:109199902-110267493)x3 copy number gain not provided [RCV001006530] Chr12:109199902..110267493 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.927C>T (p.Gly309=) single nucleotide variant Mevalonic aciduria [RCV001862684]|not provided [RCV001090936] Chr12:109595069 [GRCh38]
Chr12:110032874 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_000431.4(MVK):c.775G>A (p.Glu259Lys) single nucleotide variant Mevalonic aciduria [RCV001059755] Chr12:109591247 [GRCh38]
Chr12:110029052 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.37A>C (p.Lys13Gln) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV001112694]|Mevalonic aciduria [RCV001112695]|Mevalonic aciduria [RCV001862885] Chr12:109574859 [GRCh38]
Chr12:110012664 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.78+1G>A single nucleotide variant Mevalonic aciduria [RCV001233803] Chr12:109574901 [GRCh38]
Chr12:110012706 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_000431.4(MVK):c.36G>T (p.Gly12=) single nucleotide variant Mevalonic aciduria [RCV001204309] Chr12:109574858 [GRCh38]
Chr12:110012663 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.371+4T>C single nucleotide variant Mevalonic aciduria [RCV001215241] Chr12:109579950 [GRCh38]
Chr12:110017755 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.187G>A (p.Asp63Asn) single nucleotide variant Mevalonic aciduria [RCV001068432] Chr12:109576106 [GRCh38]
Chr12:110013911 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.755A>G (p.Asn252Ser) single nucleotide variant Mevalonic aciduria [RCV001069372] Chr12:109590848 [GRCh38]
Chr12:110028653 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.787C>T (p.Pro263Ser) single nucleotide variant not provided [RCV001200091] Chr12:109591259 [GRCh38]
Chr12:110029064 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.29C>T (p.Ala10Val) single nucleotide variant not provided [RCV001093431] Chr12:109574851 [GRCh38]
Chr12:110012656 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.155G>T (p.Ser52Ile) single nucleotide variant not provided [RCV001093433] Chr12:109576074 [GRCh38]
Chr12:110013879 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.632-3del deletion Mevalonic aciduria [RCV001203870] Chr12:109586749 [GRCh38]
Chr12:110024554 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_052845.4(MMAB):c.185C>T (p.Thr62Met) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV001112610]|MMAB-related disorder [RCV003927724]|Methylmalonic aciduria, cblB type [RCV000539204]|Mevalonic aciduria [RCV001112609]|not provided [RCV001704966]|not specified [RCV001804921] Chr12:109571660 [GRCh38]
Chr12:110009465 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_000431.4(MVK):c.503_508del (p.Leu168_Asp170delinsHis) deletion Hyperimmunoglobulin D with periodic fever [RCV001267774] Chr12:109581526..109581531 [GRCh38]
Chr12:110019331..110019336 [GRCh37]
Chr12:12q24.11		 uncertain significance
GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1 copy number loss not provided [RCV001259630] Chr12:106498814..112252906 [GRCh37]
Chr12:12q23.3-24.12		 pathogenic
NM_000431.4(MVK):c.850del (p.Glu284fs) deletion not provided [RCV001268727] Chr12:109591318 [GRCh38]
Chr12:110029123 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_000431.4(MVK):c.752G>A (p.Arg251Lys) single nucleotide variant Mevalonic aciduria [RCV001321634] Chr12:109590845 [GRCh38]
Chr12:110028650 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_052845.4(MMAB):c.14G>A (p.Gly5Asp) single nucleotide variant Inborn genetic diseases [RCV004035446]|Methylmalonic aciduria, cblB type [RCV001277396] Chr12:109573467 [GRCh38]
Chr12:110011272 [GRCh37]
Chr12:12q24.11		 uncertain significance
NC_000012.12:g.109573541T>C single nucleotide variant not provided [RCV001786805] Chr12:109573541 [GRCh38]
Chr12:110011346 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.450G>C (p.Ser150=) single nucleotide variant Mevalonic aciduria [RCV001413985]|not provided [RCV003738065] Chr12:109581473 [GRCh38]
Chr12:110019278 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.393C>T (p.Ile131=) single nucleotide variant Mevalonic aciduria [RCV001396425] Chr12:109581416 [GRCh38]
Chr12:110019221 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.60T>C (p.His20=) single nucleotide variant Mevalonic aciduria [RCV001414880] Chr12:109574882 [GRCh38]
Chr12:110012687 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.677+7del deletion Mevalonic aciduria [RCV001422702] Chr12:109586806 [GRCh38]
Chr12:110024611 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1174G>A (p.Ala392Thr) single nucleotide variant Mevalonic aciduria [RCV001343420] Chr12:109596560 [GRCh38]
Chr12:110034365 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.631+3A>G single nucleotide variant Mevalonic aciduria [RCV001346634] Chr12:109586128 [GRCh38]
Chr12:110023933 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.512G>A (p.Gly171Glu) single nucleotide variant Inborn genetic diseases [RCV002543831]|Mevalonic aciduria [RCV001321804]|not provided [RCV003738041] Chr12:109581535 [GRCh38]
Chr12:110019340 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_000431.4(MVK):c.254C>T (p.Ser85Leu) single nucleotide variant Mevalonic aciduria [RCV001324011] Chr12:109579829 [GRCh38]
Chr12:110017634 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.592G>A (p.Gly198Arg) single nucleotide variant Mevalonic aciduria [RCV001307794] Chr12:109586086 [GRCh38]
Chr12:110023891 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.1055A>C (p.Glu352Ala) single nucleotide variant Mevalonic aciduria [RCV001347854] Chr12:109596441 [GRCh38]
Chr12:110034246 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.889C>A (p.Leu297Ile) single nucleotide variant Mevalonic aciduria [RCV001305146] Chr12:109595031 [GRCh38]
Chr12:110032836 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.1128C>T (p.Gly376=) single nucleotide variant Mevalonic aciduria [RCV001418126]|Retinal dystrophy [RCV003887989]|not provided [RCV001655711] Chr12:109596514 [GRCh38]
Chr12:110034319 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_000431.4(MVK):c.653A>C (p.Gln218Pro) single nucleotide variant Mevalonic aciduria [RCV001368948] Chr12:109586775 [GRCh38]
Chr12:110024580 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.244A>G (p.Thr82Ala) single nucleotide variant Mevalonic aciduria [RCV001371542] Chr12:109579819 [GRCh38]
Chr12:110017624 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.524A>G (p.Asn175Ser) single nucleotide variant Mevalonic aciduria [RCV001371827] Chr12:109581547 [GRCh38]
Chr12:110019352 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.799T>C (p.Ser267Pro) single nucleotide variant Mevalonic aciduria [RCV001348249] Chr12:109591271 [GRCh38]
Chr12:110029076 [GRCh37]
Chr12:12q24.11		 likely pathogenic|uncertain significance
NM_000431.4(MVK):c.144A>G (p.Lys48=) single nucleotide variant Mevalonic aciduria [RCV001413640] Chr12:109576063 [GRCh38]
Chr12:110013868 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.565G>T (p.Ala189Ser) single nucleotide variant Autoinflammatory syndrome [RCV002264264]|Mevalonic aciduria [RCV001315807]|not provided [RCV004770038] Chr12:109586059 [GRCh38]
Chr12:110023864 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.368A>T (p.Gln123Leu) single nucleotide variant Mevalonic aciduria [RCV001349561] Chr12:109579943 [GRCh38]
Chr12:110017748 [GRCh37]
Chr12:12q24.11		 uncertain significance
NC_000012.11:g.(?_110032813)_(110034402_?)del deletion Mevalonic aciduria [RCV001389236] Chr12:110032813..110034402 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.789C>A (p.Pro263=) single nucleotide variant Mevalonic aciduria [RCV001481339]|not provided [RCV001692387] Chr12:109591261 [GRCh38]
Chr12:110029066 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_000431.4(MVK):c.780C>T (p.Ile260=) single nucleotide variant Mevalonic aciduria [RCV001457000] Chr12:109591252 [GRCh38]
Chr12:110029057 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1040-4G>A single nucleotide variant Mevalonic aciduria [RCV001503377] Chr12:109596422 [GRCh38]
Chr12:110034227 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.921C>T (p.Ala307=) single nucleotide variant Mevalonic aciduria [RCV001485214] Chr12:109595063 [GRCh38]
Chr12:110032868 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.19C>T (p.Leu7=) single nucleotide variant Mevalonic aciduria [RCV001492967] Chr12:109574841 [GRCh38]
Chr12:110012646 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.855C>T (p.Ala285=) single nucleotide variant MVK-related disorder [RCV004533816]|Mevalonic aciduria [RCV001470246]|not provided [RCV003738076] Chr12:109591327 [GRCh38]
Chr12:110029132 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.2T>G (p.Met1Arg) single nucleotide variant Methylmalonic aciduria, cblB type [RCV001377746] Chr12:109573479 [GRCh38]
Chr12:110011284 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_000431.4(MVK):c.372-9G>A single nucleotide variant Mevalonic aciduria [RCV001444482] Chr12:109581386 [GRCh38]
Chr12:110019191 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.729C>G (p.Thr243=) single nucleotide variant Mevalonic aciduria [RCV001444664] Chr12:109590822 [GRCh38]
Chr12:110028627 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.420G>A (p.Gly140=) single nucleotide variant Mevalonic aciduria [RCV001445050] Chr12:109581443 [GRCh38]
Chr12:110019248 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.528-226C>T single nucleotide variant not provided [RCV001588710] Chr12:109585796 [GRCh38]
Chr12:110023601 [GRCh37]
Chr12:12q24.11		 likely benign
NC_000012.12:g.109573563A>G single nucleotide variant not provided [RCV001588504] Chr12:109573563 [GRCh38]
Chr12:110011368 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.78+141G>A single nucleotide variant not provided [RCV001611194] Chr12:109575041 [GRCh38]
Chr12:110012846 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.1116C>T (p.Ile372=) single nucleotide variant MVK-related disorder [RCV004733340]|Mevalonic aciduria [RCV001476430] Chr12:109596502 [GRCh38]
Chr12:110034307 [GRCh37]
Chr12:12q24.11		 likely benign|conflicting interpretations of pathogenicity
NM_000431.4(MVK):c.1059G>A (p.Val353=) single nucleotide variant Mevalonic aciduria [RCV001479864] Chr12:109596445 [GRCh38]
Chr12:110034250 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1040-10C>T single nucleotide variant Mevalonic aciduria [RCV001483493] Chr12:109596416 [GRCh38]
Chr12:110034221 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.*183C>T single nucleotide variant not provided [RCV001654661] Chr12:109596760 [GRCh38]
Chr12:110034565 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.528-254dup duplication not provided [RCV001616154] Chr12:109585759..109585760 [GRCh38]
Chr12:110023564..110023565 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.-15+61G>A single nucleotide variant not provided [RCV001688184] Chr12:109573934 [GRCh38]
Chr12:110011739 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.747C>T (p.Gly249=) single nucleotide variant Autoinflammatory syndrome [RCV002264332]|Mevalonic aciduria [RCV001455288] Chr12:109590840 [GRCh38]
Chr12:110028645 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_000431.4(MVK):c.534C>G (p.Thr178=) single nucleotide variant MVK-related disorder [RCV004540289]|Mevalonic aciduria [RCV001418045] Chr12:109586028 [GRCh38]
Chr12:110023833 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.605dup (p.Val203fs) duplication Mevalonic aciduria [RCV001383960] Chr12:109586097..109586098 [GRCh38]
Chr12:110023902..110023903 [GRCh37]
Chr12:12q24.11		 pathogenic
NC_000012.11:g.(?_110012646)_110013970del deletion Mevalonic aciduria [RCV001378769]   likely pathogenic
NM_000431.4(MVK):c.62C>T (p.Ala21Val) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV002243551] Chr12:109574884 [GRCh38]
Chr12:110012689 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_000431.4(MVK):c.733G>T (p.Ala245Ser) single nucleotide variant Autoinflammatory syndrome [RCV002264385]|not specified [RCV001733797] Chr12:109590826 [GRCh38]
Chr12:110028631 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.1067C>A (p.Thr356Lys) single nucleotide variant Mevalonic aciduria [RCV001892402] Chr12:109596453 [GRCh38]
Chr12:110034258 [GRCh37]
Chr12:12q24.11		 uncertain significance
G326R variation Hyperimmunoglobulin D with periodic fever [RCV001824547]   pathogenic
NM_000431.4(MVK):c.119G>T (p.Arg40Leu) single nucleotide variant Mevalonic aciduria [RCV002023868] Chr12:109576038 [GRCh38]
Chr12:110013843 [GRCh37]
Chr12:12q24.11		 uncertain significance
GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1 copy number loss not provided [RCV001834231] Chr12:104230462..111984801 [GRCh37]
Chr12:12q23.3-24.12		 pathogenic
NM_000431.4(MVK):c.886-2dup duplication Mevalonic aciduria [RCV001986807] Chr12:109595025..109595026 [GRCh38]
Chr12:110032830..110032831 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.313G>A (p.Glu105Lys) single nucleotide variant Mevalonic aciduria [RCV001948637] Chr12:109579888 [GRCh38]
Chr12:110017693 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.64G>C (p.Val22Leu) single nucleotide variant Mevalonic aciduria [RCV001969068] Chr12:109574886 [GRCh38]
Chr12:110012691 [GRCh37]
Chr12:12q24.11		 uncertain significance
GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805) copy number loss not specified [RCV002053016] Chr12:103044333..111639805 [GRCh37]
Chr12:12q23.2-24.11		 likely pathogenic
NM_000431.4(MVK):c.483C>T (p.Cys161=) single nucleotide variant Mevalonic aciduria [RCV001968152] Chr12:109581506 [GRCh38]
Chr12:110019311 [GRCh37]
Chr12:12q24.11		 conflicting interpretations of pathogenicity|uncertain significance
MVK, TYR116HIS variation Hyperimmunoglobulin D with periodic fever [RCV001824546]   pathogenic
NM_000431.4(MVK):c.721C>T (p.Arg241Cys) single nucleotide variant Mevalonic aciduria [RCV001969264] Chr12:109590814 [GRCh38]
Chr12:110028619 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_000431.4(MVK):c.89C>T (p.Ala30Val) single nucleotide variant Mevalonic aciduria [RCV001893491] Chr12:109576008 [GRCh38]
Chr12:110013813 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.67G>A (p.Val23Ile) single nucleotide variant Mevalonic aciduria [RCV002039328] Chr12:109574889 [GRCh38]
Chr12:110012694 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.632-3T>A single nucleotide variant Mevalonic aciduria [RCV002038476] Chr12:109586751 [GRCh38]
Chr12:110024556 [GRCh37]
Chr12:12q24.11		 uncertain significance
NC_000012.11:g.(?_110013783)_(110013970_?)del deletion Mevalonic aciduria [RCV001963312] Chr12:110013783..110013970 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.886-15A>T single nucleotide variant Mevalonic aciduria [RCV001963735] Chr12:109595013 [GRCh38]
Chr12:110032818 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_000431.4(MVK):c.809C>A (p.Ala270Asp) single nucleotide variant Mevalonic aciduria [RCV002036425] Chr12:109591281 [GRCh38]
Chr12:110029086 [GRCh37]
Chr12:12q24.11		 uncertain significance
NC_000012.11:g.(?_110011228)_(110017709_?)del deletion Methylmalonic aciduria, cblB type [RCV001941877] Chr12:110011228..110017709 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.680C>T (p.Ser227Leu) single nucleotide variant Mevalonic aciduria [RCV001906746] Chr12:109590773 [GRCh38]
Chr12:110028578 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.784G>T (p.Ala262Ser) single nucleotide variant Mevalonic aciduria [RCV001933541] Chr12:109591256 [GRCh38]
Chr12:110029061 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.371+8C>A single nucleotide variant Mevalonic aciduria [RCV001951726] Chr12:109579954 [GRCh38]
Chr12:110017759 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_000431.4(MVK):c.865G>C (p.Glu289Gln) single nucleotide variant Mevalonic aciduria [RCV002026108] Chr12:109591337 [GRCh38]
Chr12:110029142 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.450G>A (p.Ser150=) single nucleotide variant Mevalonic aciduria [RCV002049855] Chr12:109581473 [GRCh38]
Chr12:110019278 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_000431.4(MVK):c.418G>A (p.Gly140Arg) single nucleotide variant Mevalonic aciduria [RCV002009944] Chr12:109581441 [GRCh38]
Chr12:110019246 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.592G>C (p.Gly198Arg) single nucleotide variant Mevalonic aciduria [RCV002048224] Chr12:109586086 [GRCh38]
Chr12:110023891 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.1078C>G (p.Leu360Val) single nucleotide variant Mevalonic aciduria [RCV001904164] Chr12:109596464 [GRCh38]
Chr12:110034269 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.197G>A (p.Arg66Lys) single nucleotide variant Mevalonic aciduria [RCV001952402]|not provided [RCV003156362] Chr12:109576116 [GRCh38]
Chr12:110013921 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.423G>A (p.Ala141=) single nucleotide variant Mevalonic aciduria [RCV001923843] Chr12:109581446 [GRCh38]
Chr12:110019251 [GRCh37]
Chr12:12q24.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_000431.4(MVK):c.188A>T (p.Asp63Val) single nucleotide variant Mevalonic aciduria [RCV001961385] Chr12:109576107 [GRCh38]
Chr12:110013912 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.451G>T (p.Val151Leu) single nucleotide variant Mevalonic aciduria [RCV002033236] Chr12:109581474 [GRCh38]
Chr12:110019279 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.288C>T (p.Gly96=) single nucleotide variant Mevalonic aciduria [RCV001931850] Chr12:109579863 [GRCh38]
Chr12:110017668 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.1134C>T (p.Ser378=) single nucleotide variant Mevalonic aciduria [RCV002185675] Chr12:109596520 [GRCh38]
Chr12:110034325 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.41G>A (p.Ser14Asn) single nucleotide variant Methylmalonic aciduria, cblB type [RCV001314546] Chr12:109573440 [GRCh38]
Chr12:110011245 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_052845.4(MMAB):c.30T>C (p.Leu10=) single nucleotide variant Methylmalonic aciduria, cblB type [RCV001392093] Chr12:109573451 [GRCh38]
Chr12:110011256 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1110C>T (p.Thr370=) single nucleotide variant Mevalonic aciduria [RCV002145577] Chr12:109596496 [GRCh38]
Chr12:110034301 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.52C>T (p.Leu18=) single nucleotide variant Methylmalonic aciduria, cblB type [RCV001447016] Chr12:109573429 [GRCh38]
Chr12:110011234 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.61dup (p.Cys21fs) duplication Methylmalonic aciduria, cblB type [RCV001984532] Chr12:109573419..109573420 [GRCh38]
Chr12:110011224..110011225 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_052845.4(MMAB):c.35T>C (p.Leu12Pro) single nucleotide variant Methylmalonic aciduria, cblB type [RCV001578623] Chr12:109573446 [GRCh38]
Chr12:110011251 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_052845.4(MMAB):c.57C>T (p.Arg19=) single nucleotide variant Methylmalonic aciduria, cblB type [RCV001274954] Chr12:109573424 [GRCh38]
Chr12:110011229 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_000431.4(MVK):c.279G>A (p.Glu93=) single nucleotide variant Mevalonic aciduria [RCV002209996] Chr12:109579854 [GRCh38]
Chr12:110017659 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.371+12G>A single nucleotide variant Mevalonic aciduria [RCV002109239] Chr12:109579958 [GRCh38]
Chr12:110017763 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.66C>T (p.Phe22=) single nucleotide variant Methylmalonic aciduria, cblB type [RCV002084939] Chr12:109573415 [GRCh38]
Chr12:110011220 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.19GGGAGCCGTCTTGGCCTG[1] (p.7GSRLGL[1]) microsatellite Methylmalonic aciduria, cblB type [RCV000190395] Chr12:109573427..109573444 [GRCh38]
Chr12:110011232..110011249 [GRCh37]
Chr12:12q24.11		 uncertain significance|not provided
NM_052845.4(MMAB):c.60G>A (p.Gly20=) single nucleotide variant Methylmalonic aciduria, cblB type [RCV002106434] Chr12:109573421 [GRCh38]
Chr12:110011226 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.57C>G (p.Arg19=) single nucleotide variant Methylmalonic aciduria, cblB type [RCV002111087] Chr12:109573424 [GRCh38]
Chr12:110011229 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.23del (p.Ser8fs) deletion Methylmalonic aciduria, cblB type [RCV001527443] Chr12:109573458 [GRCh38]
Chr12:110011263 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.677+18C>T single nucleotide variant Mevalonic aciduria [RCV002074913] Chr12:109586817 [GRCh38]
Chr12:110024622 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.107del (p.Gly36fs) deletion Methylmalonic aciduria, cblB type [RCV000673427] Chr12:109573374 [GRCh38]
Chr12:110011179 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_000431.4(MVK):c.888G>A (p.Glu296=) single nucleotide variant Mevalonic aciduria [RCV002092830] Chr12:109595030 [GRCh38]
Chr12:110032835 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.371+14C>G single nucleotide variant Mevalonic aciduria [RCV002208610] Chr12:109579960 [GRCh38]
Chr12:110017765 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.677+12G>T single nucleotide variant Mevalonic aciduria [RCV002205761]|not specified [RCV004690241] Chr12:109586811 [GRCh38]
Chr12:110024616 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.44G>A (p.Arg15His) single nucleotide variant Methylmalonic aciduria, cblB type [RCV001065308] Chr12:109573437 [GRCh38]
Chr12:110011242 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_052845.4(MMAB):c.27T>C (p.Arg9=) single nucleotide variant Methylmalonic aciduria, cblB type [RCV002541018] Chr12:109573454 [GRCh38]
Chr12:110011259 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.68G>A (p.Gly23Asp) single nucleotide variant Inborn genetic diseases [RCV002556226]|Methylmalonic aciduria, cblB type [RCV001113945]|not provided [RCV003480960] Chr12:109573413 [GRCh38]
Chr12:110011218 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_052845.4(MMAB):c.91C>T (p.Arg31Cys) single nucleotide variant Methylmalonic aciduria, cblB type [RCV001456833] Chr12:109573390 [GRCh38]
Chr12:110011195 [GRCh37]
Chr12:12q24.11		 likely benign|conflicting interpretations of pathogenicity
NM_052845.4(MMAB):c.105C>T (p.Arg35=) single nucleotide variant Methylmalonic aciduria, cblB type [RCV001483570] Chr12:109573376 [GRCh38]
Chr12:110011181 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.677+12G>A single nucleotide variant Mevalonic aciduria [RCV002167778] Chr12:109586811 [GRCh38]
Chr12:110024616 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.79C>T (p.Leu27Phe) single nucleotide variant Inborn genetic diseases [RCV002518922]|Methylmalonic aciduria, cblB type [RCV002519149]|not provided [RCV000387095] Chr12:109573402 [GRCh38]
Chr12:110011207 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_052845.4(MMAB):c.61T>A (p.Cys21Ser) single nucleotide variant Methylmalonic aciduria, cblB type [RCV002024925] Chr12:109573420 [GRCh38]
Chr12:110011225 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.861C>A (p.Ala287=) single nucleotide variant Mevalonic aciduria [RCV002170885] Chr12:109591333 [GRCh38]
Chr12:110029138 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.84G>A (p.Leu28=) single nucleotide variant Methylmalonic aciduria, cblB type [RCV001433899] Chr12:109573397 [GRCh38]
Chr12:110011202 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.78+11G>A single nucleotide variant Mevalonic aciduria [RCV002086723] Chr12:109574911 [GRCh38]
Chr12:110012716 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.126C>T (p.Asp42=) single nucleotide variant Methylmalonic aciduria, cblB type [RCV002126087] Chr12:109573355 [GRCh38]
Chr12:110011160 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.603C>T (p.Ser201=) single nucleotide variant Mevalonic aciduria [RCV002094599] Chr12:109586097 [GRCh38]
Chr12:110023902 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.60G>T (p.Gly20=) single nucleotide variant Methylmalonic aciduria, cblB type [RCV001444106] Chr12:109573421 [GRCh38]
Chr12:110011226 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.162C>T (p.Pro54=) single nucleotide variant Mevalonic aciduria [RCV002133242] Chr12:109576081 [GRCh38]
Chr12:110013886 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.99G>A (p.Gln33=) single nucleotide variant MMAB-related disorder [RCV003895724]|Methylmalonic aciduria, cblB type [RCV001274953]|not provided [RCV003332273] Chr12:109573382 [GRCh38]
Chr12:110011187 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_000431.4(MVK):c.226+7G>A single nucleotide variant Mevalonic aciduria [RCV002205733] Chr12:109576152 [GRCh38]
Chr12:110013957 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.108C>T (p.Gly36=) single nucleotide variant Methylmalonic aciduria, cblB type [RCV002214900] Chr12:109573373 [GRCh38]
Chr12:110011178 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.87T>A (p.Tyr29Ter) single nucleotide variant Methylmalonic aciduria, cblB type [RCV001527444] Chr12:109573394 [GRCh38]
Chr12:110011199 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_052845.4(MMAB):c.116G>A (p.Gly39Asp) single nucleotide variant Methylmalonic aciduria, cblB type [RCV001277395] Chr12:109573365 [GRCh38]
Chr12:110011170 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.615T>C (p.Asn205=) single nucleotide variant Mevalonic aciduria [RCV002093255] Chr12:109586109 [GRCh38]
Chr12:110023914 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.43C>T (p.Arg15Cys) single nucleotide variant Methylmalonic aciduria, cblB type [RCV001869021]|not provided [RCV000756342] Chr12:109573438 [GRCh38]
Chr12:110011243 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.417C>G (p.Pro139=) single nucleotide variant Mevalonic aciduria [RCV002116836] Chr12:109581440 [GRCh38]
Chr12:110019245 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln) indel Methylmalonic aciduria, cblB type [RCV000408901]|not provided [RCV000589479] Chr12:109573424..109573425 [GRCh38]
Chr12:110011229..110011230 [GRCh37]
Chr12:12q24.11		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_000431.4(MVK):c.632-12T>G single nucleotide variant Mevalonic aciduria [RCV002163360] Chr12:109586742 [GRCh38]
Chr12:110024547 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1188C>T (p.Leu396=) single nucleotide variant Mevalonic aciduria [RCV002200160] Chr12:109596574 [GRCh38]
Chr12:110034379 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.528-15C>T single nucleotide variant Mevalonic aciduria [RCV002102364] Chr12:109586007 [GRCh38]
Chr12:110023812 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.132C>T (p.His44=) single nucleotide variant Mevalonic aciduria [RCV002120052] Chr12:109576051 [GRCh38]
Chr12:110013856 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.678-16C>G single nucleotide variant Mevalonic aciduria [RCV002181778] Chr12:109590755 [GRCh38]
Chr12:110028560 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.441C>A (p.Ala147=) single nucleotide variant Mevalonic aciduria [RCV002160804] Chr12:109581464 [GRCh38]
Chr12:110019269 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.132C>T (p.Asp44=) single nucleotide variant Methylmalonic aciduria, cblB type [RCV002164195] Chr12:109573349 [GRCh38]
Chr12:110011154 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.886-19A>T single nucleotide variant Mevalonic aciduria [RCV002119104] Chr12:109595009 [GRCh38]
Chr12:110032814 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.438C>T (p.Ser146=) single nucleotide variant Mevalonic aciduria [RCV002140452] Chr12:109581461 [GRCh38]
Chr12:110019266 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1125C>T (p.Pro375=) single nucleotide variant Mevalonic aciduria [RCV002180737] Chr12:109596511 [GRCh38]
Chr12:110034316 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.528-17A>G single nucleotide variant Mevalonic aciduria [RCV002102116] Chr12:109586005 [GRCh38]
Chr12:110023810 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.54G>A (p.Leu18=) single nucleotide variant Methylmalonic aciduria, cblB type [RCV002139651] Chr12:109573427 [GRCh38]
Chr12:110011232 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.345A>G (p.Leu115=) single nucleotide variant Mevalonic aciduria [RCV002202306] Chr12:109579920 [GRCh38]
Chr12:110017725 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.371+20A>G single nucleotide variant Mevalonic aciduria [RCV002083708] Chr12:109579966 [GRCh38]
Chr12:110017771 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.52C>A (p.Leu18Met) single nucleotide variant Methylmalonic aciduria, cblB type [RCV002122178] Chr12:109573429 [GRCh38]
Chr12:110011234 [GRCh37]
Chr12:12q24.11		 likely benign
NC_000012.11:g.(?_110032813)_(110034382_?)del deletion Mevalonic aciduria [RCV003111221] Chr12:110032813..110034382 [GRCh37]
Chr12:12q24.11		 pathogenic
NC_000012.11:g.(?_109921357)_(110034382_?)dup duplication Mevalonic aciduria [RCV003111220] Chr12:109921357..110034382 [GRCh37]
Chr12:12q24.11		 uncertain significance
NC_000012.11:g.(?_110009444)_(110012715_?)del deletion Methylmalonic aciduria, cblB type [RCV003122977] Chr12:110009444..110012715 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.943C>G (p.Leu315Val) single nucleotide variant not provided [RCV003312099]|not specified [RCV003230910] Chr12:109595085 [GRCh38]
Chr12:110032890 [GRCh37]
Chr12:12q24.11		 likely pathogenic|uncertain significance
NM_000431.4(MVK):c.118C>T (p.Arg40Trp) single nucleotide variant Autoinflammatory syndrome [RCV002262071]|Mevalonic aciduria [RCV003774819] Chr12:109576037 [GRCh38]
Chr12:110013842 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.186G>C (p.Trp62Cys) single nucleotide variant Autoinflammatory syndrome [RCV002262072] Chr12:109576105 [GRCh38]
Chr12:110013910 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.843G>T (p.Glu281Asp) single nucleotide variant Autoinflammatory syndrome [RCV002262075] Chr12:109591315 [GRCh38]
Chr12:110029120 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.210G>T (p.Leu70=) single nucleotide variant Autoinflammatory syndrome [RCV002262073]|Mevalonic aciduria [RCV003774820] Chr12:109576129 [GRCh38]
Chr12:110013934 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_000431.4(MVK):c.664T>A (p.Ser222Thr) single nucleotide variant not provided [RCV002261949] Chr12:109586786 [GRCh38]
Chr12:110024591 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.647A>T (p.Tyr216Phe) single nucleotide variant Autoinflammatory syndrome [RCV002262074] Chr12:109586769 [GRCh38]
Chr12:110024574 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.873C>A (p.Tyr291Ter) single nucleotide variant Autoinflammatory syndrome [RCV002262076] Chr12:109591345 [GRCh38]
Chr12:110029150 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_000431.4(MVK):c.999C>T (p.Gly333=) single nucleotide variant Autoinflammatory syndrome [RCV002262077]|Mevalonic aciduria [RCV003095940] Chr12:109595141 [GRCh38]
Chr12:110032946 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_000431.4(MVK):c.1096G>T (p.Asp366Tyr) single nucleotide variant Mevalonic aciduria [RCV002296071] Chr12:109596482 [GRCh38]
Chr12:110034287 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.641T>A (p.Leu214His) single nucleotide variant Mevalonic aciduria [RCV002301773] Chr12:109586763 [GRCh38]
Chr12:110024568 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.86T>C (p.Leu29Pro) single nucleotide variant Mevalonic aciduria [RCV002298121] Chr12:109576005 [GRCh38]
Chr12:110013810 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.528-3C>T single nucleotide variant Mevalonic aciduria [RCV003013861] Chr12:109586019 [GRCh38]
Chr12:110023824 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.938C>T (p.Ala313Val) single nucleotide variant Mevalonic aciduria [RCV002861468] Chr12:109595080 [GRCh38]
Chr12:110032885 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.27T>C (p.Ser9=) single nucleotide variant Mevalonic aciduria [RCV002993818] Chr12:109574849 [GRCh38]
Chr12:110012654 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.79-11T>G single nucleotide variant Mevalonic aciduria [RCV002837542] Chr12:109575987 [GRCh38]
Chr12:110013792 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.632-13T>C single nucleotide variant Mevalonic aciduria [RCV002994059] Chr12:109586741 [GRCh38]
Chr12:110024546 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.102C>T (p.Ser34=) single nucleotide variant Methylmalonic aciduria, cblB type [RCV002775284] Chr12:109573379 [GRCh38]
Chr12:110011184 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.528-10_528-7del deletion Mevalonic aciduria [RCV002903458] Chr12:109586011..109586014 [GRCh38]
Chr12:110023816..110023819 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.289T>C (p.Leu97=) single nucleotide variant Mevalonic aciduria [RCV002686185] Chr12:109579864 [GRCh38]
Chr12:110017669 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.249del (p.Thr84fs) deletion not provided [RCV002462796] Chr12:109579822 [GRCh38]
Chr12:110017627 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_000431.4(MVK):c.860C>G (p.Ala287Gly) single nucleotide variant Inborn genetic diseases [RCV002883322] Chr12:109591332 [GRCh38]
Chr12:110029137 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_052845.4(MMAB):c.27T>G (p.Arg9=) single nucleotide variant Methylmalonic aciduria, cblB type [RCV002774775] Chr12:109573454 [GRCh38]
Chr12:110011259 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.79-4A>G single nucleotide variant Mevalonic aciduria [RCV002730284] Chr12:109575994 [GRCh38]
Chr12:110013799 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1140C>T (p.His380=) single nucleotide variant Mevalonic aciduria [RCV002617300] Chr12:109596526 [GRCh38]
Chr12:110034331 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.6T>A (p.Ala2=) single nucleotide variant Methylmalonic aciduria, cblB type [RCV002819755] Chr12:109573475 [GRCh38]
Chr12:110011280 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.105G>C (p.Leu35Phe) single nucleotide variant Inborn genetic diseases [RCV002778805] Chr12:109576024 [GRCh38]
Chr12:110013829 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.1142C>T (p.Ser381Leu) single nucleotide variant Mevalonic aciduria [RCV003033642] Chr12:109596528 [GRCh38]
Chr12:110034333 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.632-11T>C single nucleotide variant Mevalonic aciduria [RCV002755745] Chr12:109586743 [GRCh38]
Chr12:110024548 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.678-16C>T single nucleotide variant Mevalonic aciduria [RCV002913048] Chr12:109590755 [GRCh38]
Chr12:110028560 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.458T>C (p.Leu153Pro) single nucleotide variant Mevalonic aciduria [RCV003038295] Chr12:109581481 [GRCh38]
Chr12:110019286 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.671T>G (p.Leu224Ter) single nucleotide variant Mevalonic aciduria [RCV003020765] Chr12:109586793 [GRCh38]
Chr12:110024598 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.1090_1091del (p.Gly364fs) deletion Mevalonic aciduria [RCV002847968] Chr12:109596476..109596477 [GRCh38]
Chr12:110034281..110034282 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.998G>A (p.Gly333Asp) single nucleotide variant Mevalonic aciduria [RCV003020358] Chr12:109595140 [GRCh38]
Chr12:110032945 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.677G>A (p.Arg226Lys) single nucleotide variant Mevalonic aciduria [RCV002889767] Chr12:109586799 [GRCh38]
Chr12:110024604 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.1092C>T (p.Gly364=) single nucleotide variant Mevalonic aciduria [RCV002847969] Chr12:109596478 [GRCh38]
Chr12:110034283 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.768+14C>G single nucleotide variant Mevalonic aciduria [RCV003003209] Chr12:109590875 [GRCh38]
Chr12:110028680 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.973C>T (p.Arg325Cys) single nucleotide variant Mevalonic aciduria [RCV002800008] Chr12:109595115 [GRCh38]
Chr12:110032920 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.621C>T (p.Val207=) single nucleotide variant Mevalonic aciduria [RCV002623085] Chr12:109586115 [GRCh38]
Chr12:110023920 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1039+7dup duplication Mevalonic aciduria [RCV003021716] Chr12:109595185..109595186 [GRCh38]
Chr12:110032990..110032991 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.768+71C>A single nucleotide variant Mevalonic aciduria [RCV002509768] Chr12:109590932 [GRCh38]
Chr12:110028737 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_000431.4(MVK):c.194C>G (p.Ala65Gly) single nucleotide variant Inborn genetic diseases [RCV002782116]|Mevalonic aciduria [RCV003777739] Chr12:109576113 [GRCh38]
Chr12:110013918 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.528-10G>T single nucleotide variant Mevalonic aciduria [RCV003038203] Chr12:109586012 [GRCh38]
Chr12:110023817 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.192G>A (p.Val64=) single nucleotide variant Mevalonic aciduria [RCV002736393] Chr12:109576111 [GRCh38]
Chr12:110013916 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.534C>A (p.Thr178=) single nucleotide variant Mevalonic aciduria [RCV003100333] Chr12:109586028 [GRCh38]
Chr12:110023833 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.677+1G>T single nucleotide variant Mevalonic aciduria [RCV002846993] Chr12:109586800 [GRCh38]
Chr12:110024605 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_000431.4(MVK):c.769-14_769-12del microsatellite Mevalonic aciduria [RCV002979570] Chr12:109591224..109591226 [GRCh38]
Chr12:110029029..110029031 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.632-19_632-18inv inversion Mevalonic aciduria [RCV002913020] Chr12:109586735..109586736 [GRCh38]
Chr12:110024540..110024541 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.341A>G (p.Tyr114Cys) single nucleotide variant Mevalonic aciduria [RCV002976223] Chr12:109579916 [GRCh38]
Chr12:110017721 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.417C>T (p.Pro139=) single nucleotide variant Mevalonic aciduria [RCV002790380] Chr12:109581440 [GRCh38]
Chr12:110019245 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.134+2T>A single nucleotide variant Methylmalonic aciduria, cblB type [RCV002876177] Chr12:109573345 [GRCh38]
Chr12:110011150 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_000431.4(MVK):c.1042C>T (p.Leu348=) single nucleotide variant Mevalonic aciduria [RCV002894631] Chr12:109596428 [GRCh38]
Chr12:110034233 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.677+5C>A single nucleotide variant Mevalonic aciduria [RCV002853171] Chr12:109586804 [GRCh38]
Chr12:110024609 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_052845.4(MMAB):c.134+10T>G single nucleotide variant Methylmalonic aciduria, cblB type [RCV002851134] Chr12:109573337 [GRCh38]
Chr12:110011142 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.18G>A (p.Leu6=) single nucleotide variant Methylmalonic aciduria, cblB type [RCV002745520] Chr12:109573463 [GRCh38]
Chr12:110011268 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.491T>A (p.Ile164Asn) single nucleotide variant Mevalonic aciduria [RCV002700578] Chr12:109581514 [GRCh38]
Chr12:110019319 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_052845.4(MMAB):c.78G>A (p.Arg26=) single nucleotide variant Methylmalonic aciduria, cblB type [RCV002957705] Chr12:109573403 [GRCh38]
Chr12:110011208 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.423G>C (p.Ala141=) single nucleotide variant Mevalonic aciduria [RCV003041523] Chr12:109581446 [GRCh38]
Chr12:110019251 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.632-2A>C single nucleotide variant Mevalonic aciduria [RCV002872701] Chr12:109586752 [GRCh38]
Chr12:110024557 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_000431.4(MVK):c.307G>A (p.Val103Ile) single nucleotide variant Inborn genetic diseases [RCV002892922] Chr12:109579882 [GRCh38]
Chr12:110017687 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.853G>A (p.Ala285Thr) single nucleotide variant Inborn genetic diseases [RCV002873573] Chr12:109591325 [GRCh38]
Chr12:110029130 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_052845.4(MMAB):c.111T>G (p.Pro37=) single nucleotide variant Methylmalonic aciduria, cblB type [RCV003005811] Chr12:109573370 [GRCh38]
Chr12:110011175 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1046A>C (p.Glu349Ala) single nucleotide variant Mevalonic aciduria [RCV002765962] Chr12:109596432 [GRCh38]
Chr12:110034237 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.78+18C>T single nucleotide variant Mevalonic aciduria [RCV002741406] Chr12:109574918 [GRCh38]
Chr12:110012723 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1045G>C (p.Glu349Gln) single nucleotide variant Mevalonic aciduria [RCV002745549] Chr12:109596431 [GRCh38]
Chr12:110034236 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.680C>G (p.Ser227Trp) single nucleotide variant Mevalonic aciduria [RCV002958840] Chr12:109590773 [GRCh38]
Chr12:110028578 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.528-14A>G single nucleotide variant Mevalonic aciduria [RCV003022807] Chr12:109586008 [GRCh38]
Chr12:110023813 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.42C>T (p.Ser14=) single nucleotide variant Methylmalonic aciduria, cblB type [RCV003022953] Chr12:109573439 [GRCh38]
Chr12:110011244 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.581G>T (p.Arg194Ile) single nucleotide variant Mevalonic aciduria [RCV003059454] Chr12:109586075 [GRCh38]
Chr12:110023880 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.1019G>C (p.Gly340Ala) single nucleotide variant Mevalonic aciduria [RCV002701518] Chr12:109595161 [GRCh38]
Chr12:110032966 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.549G>A (p.Glu183=) single nucleotide variant Mevalonic aciduria [RCV003022514] Chr12:109586043 [GRCh38]
Chr12:110023848 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.481_482del (p.Cys161fs) microsatellite Mevalonic aciduria [RCV003041169] Chr12:109581500..109581501 [GRCh38]
Chr12:110019305..110019306 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.350T>C (p.Leu117Pro) single nucleotide variant Mevalonic aciduria [RCV003058396] Chr12:109579925 [GRCh38]
Chr12:110017730 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_052845.4(MMAB):c.108C>A (p.Gly36=) single nucleotide variant Methylmalonic aciduria, cblB type [RCV002828557] Chr12:109573373 [GRCh38]
Chr12:110011178 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.203A>G (p.Gln68Arg) single nucleotide variant Mevalonic aciduria [RCV002807162] Chr12:109576122 [GRCh38]
Chr12:110013927 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.893T>C (p.Ile298Thr) single nucleotide variant Mevalonic aciduria [RCV003062543] Chr12:109595035 [GRCh38]
Chr12:110032840 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_000431.4(MVK):c.336T>C (p.Phe112=) single nucleotide variant Mevalonic aciduria [RCV003030357] Chr12:109579911 [GRCh38]
Chr12:110017716 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.172A>G (p.Ile58Val) single nucleotide variant Mevalonic aciduria [RCV002598515]|Retinal dystrophy [RCV003889239] Chr12:109576091 [GRCh38]
Chr12:110013896 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.194C>T (p.Ala65Val) single nucleotide variant Mevalonic aciduria [RCV002962388] Chr12:109576113 [GRCh38]
Chr12:110013918 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.709A>G (p.Thr237Ala) single nucleotide variant Mevalonic aciduria [RCV002899078] Chr12:109590802 [GRCh38]
Chr12:110028607 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.781G>A (p.Val261Met) single nucleotide variant Mevalonic aciduria [RCV002921873] Chr12:109591253 [GRCh38]
Chr12:110029058 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.227-17G>A single nucleotide variant Mevalonic aciduria [RCV003026674] Chr12:109579785 [GRCh38]
Chr12:110017590 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1076C>A (p.Ala359Asp) single nucleotide variant Mevalonic aciduria [RCV003045009] Chr12:109596462 [GRCh38]
Chr12:110034267 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.479T>A (p.Val160Glu) single nucleotide variant Mevalonic aciduria [RCV003063800] Chr12:109581502 [GRCh38]
Chr12:110019307 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.17T>A (p.Leu6Gln) single nucleotide variant Inborn genetic diseases [RCV002717678] Chr12:109574839 [GRCh38]
Chr12:110012644 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.938C>A (p.Ala313Asp) single nucleotide variant Mevalonic aciduria [RCV003044611] Chr12:109595080 [GRCh38]
Chr12:110032885 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.500C>A (p.Pro167Gln) single nucleotide variant Mevalonic aciduria [RCV003008474] Chr12:109581523 [GRCh38]
Chr12:110019328 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_052845.4(MMAB):c.66C>G (p.Phe22Leu) single nucleotide variant Methylmalonic aciduria, cblB type [RCV003068281] Chr12:109573415 [GRCh38]
Chr12:110011220 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.501G>A (p.Pro167=) single nucleotide variant Mevalonic aciduria [RCV002944195] Chr12:109581524 [GRCh38]
Chr12:110019329 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.631+3A>T single nucleotide variant Mevalonic aciduria [RCV002605355] Chr12:109586128 [GRCh38]
Chr12:110023933 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.790dup (p.Leu264fs) duplication Mevalonic aciduria [RCV002633630] Chr12:109591256..109591257 [GRCh38]
Chr12:110029061..110029062 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.527+17C>G single nucleotide variant Mevalonic aciduria [RCV003052283] Chr12:109581567 [GRCh38]
Chr12:110019372 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.321G>C (p.Leu107=) single nucleotide variant Mevalonic aciduria [RCV003067176] Chr12:109579896 [GRCh38]
Chr12:110017701 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.345dup (p.Tyr116fs) duplication Mevalonic aciduria [RCV003051166] Chr12:109579919..109579920 [GRCh38]
Chr12:110017724..110017725 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.683C>T (p.Pro228Leu) single nucleotide variant not specified [RCV004699835] Chr12:109590776 [GRCh38]
Chr12:110028581 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.1039+1G>C single nucleotide variant not provided [RCV003143447] Chr12:109595182 [GRCh38]
Chr12:110032987 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_000431.4(MVK):c.843G>C (p.Glu281Asp) single nucleotide variant Inborn genetic diseases [RCV003214473] Chr12:109591315 [GRCh38]
Chr12:110029120 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.533C>T (p.Thr178Ile) single nucleotide variant Hyperimmunoglobulin D with periodic fever [RCV003225851] Chr12:109586027 [GRCh38]
Chr12:110023832 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.605G>A (p.Gly202Glu) single nucleotide variant not specified [RCV003324362] Chr12:109586099 [GRCh38]
Chr12:110023904 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_052845.4(MMAB):c.88C>T (p.Pro30Ser) single nucleotide variant Methylmalonic aciduria, cblB type [RCV003338191] Chr12:109573393 [GRCh38]
Chr12:110011198 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.215C>T (p.Thr72Ile) single nucleotide variant Inborn genetic diseases [RCV003370426] Chr12:109576134 [GRCh38]
Chr12:110013939 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_052845.4(MMAB):c.32del (p.Gly11fs) deletion Methylmalonic aciduria, cblB type [RCV003461863] Chr12:109573449 [GRCh38]
Chr12:110011254 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_052845.4(MMAB):c.112C>T (p.Gln38Ter) single nucleotide variant Methylmalonic aciduria, cblB type [RCV003461862] Chr12:109573369 [GRCh38]
Chr12:110011174 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_052845.4(MMAB):c.63C>A (p.Cys21Ter) single nucleotide variant Methylmalonic aciduria, cblB type [RCV003470143] Chr12:109573418 [GRCh38]
Chr12:110011223 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_000431.4(MVK):c.875T>C (p.Leu292Pro) single nucleotide variant not provided [RCV003482083] Chr12:109591347 [GRCh38]
Chr12:110029152 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.560_561del (p.Lys187fs) deletion MVK-related disorder [RCV004534287] Chr12:109586054..109586055 [GRCh38]
Chr12:110023859..110023860 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.227-660T>A single nucleotide variant not specified [RCV003391220] Chr12:109579142 [GRCh38]
Chr12:110016947 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.227-482T>C single nucleotide variant not specified [RCV003391207] Chr12:109579320 [GRCh38]
Chr12:110017125 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.312C>T (p.Thr104=) single nucleotide variant Mevalonic aciduria [RCV003778388]|not provided [RCV003391990] Chr12:109579887 [GRCh38]
Chr12:110017692 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_000431.4(MVK):c.774A>C (p.Pro258=) single nucleotide variant not provided [RCV003391991] Chr12:109591246 [GRCh38]
Chr12:110029051 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.227-655T>A single nucleotide variant not specified [RCV003397048] Chr12:109579147 [GRCh38]
Chr12:110016952 [GRCh37]
Chr12:12q24.11		 benign
NM_000431.4(MVK):c.52G>A (p.Gly18Arg) single nucleotide variant not provided [RCV003391989] Chr12:109574874 [GRCh38]
Chr12:110012679 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_000431.4(MVK):c.1049A>C (p.Gln350Pro) single nucleotide variant MVK-related disorder [RCV004534357] Chr12:109596435 [GRCh38]
Chr12:110034240 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.573A>G (p.Gln191=) single nucleotide variant Mevalonic aciduria [RCV003793596] Chr12:109586067 [GRCh38]
Chr12:110023872 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.230A>G (p.Gln77Arg) single nucleotide variant Mevalonic aciduria [RCV003792332] Chr12:109579805 [GRCh38]
Chr12:110017610 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.976G>T (p.Gly326Ter) single nucleotide variant Mevalonic aciduria [RCV003804127] Chr12:109595118 [GRCh38]
Chr12:110032923 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.1143A>C (p.Ser381=) single nucleotide variant Mevalonic aciduria [RCV003797609] Chr12:109596529 [GRCh38]
Chr12:110034334 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.226+7G>T single nucleotide variant Mevalonic aciduria [RCV003797847] Chr12:109576152 [GRCh38]
Chr12:110013957 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.669C>T (p.Ser223=) single nucleotide variant Mevalonic aciduria [RCV003794924] Chr12:109586791 [GRCh38]
Chr12:110024596 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.78+11G>T single nucleotide variant Mevalonic aciduria [RCV003783672] Chr12:109574911 [GRCh38]
Chr12:110012716 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.330G>A (p.Leu110=) single nucleotide variant Mevalonic aciduria [RCV003807615] Chr12:109579905 [GRCh38]
Chr12:110017710 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.63C>T (p.Ala21=) single nucleotide variant Mevalonic aciduria [RCV003784756] Chr12:109574885 [GRCh38]
Chr12:110012690 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1040-19C>T single nucleotide variant Mevalonic aciduria [RCV003797454] Chr12:109596407 [GRCh38]
Chr12:110034212 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.84A>G (p.Ala28=) single nucleotide variant Mevalonic aciduria [RCV003782540] Chr12:109576003 [GRCh38]
Chr12:110013808 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.723C>T (p.Arg241=) single nucleotide variant Mevalonic aciduria [RCV003807721] Chr12:109590816 [GRCh38]
Chr12:110028621 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.134+7G>A single nucleotide variant Methylmalonic aciduria, cblB type [RCV003607763] Chr12:109573340 [GRCh38]
Chr12:110011145 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.678-4G>A single nucleotide variant Mevalonic aciduria [RCV003795441] Chr12:109590767 [GRCh38]
Chr12:110028572 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.699G>A (p.Leu233=) single nucleotide variant Mevalonic aciduria [RCV003782751] Chr12:109590792 [GRCh38]
Chr12:110028597 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.789C>T (p.Pro263=) single nucleotide variant Mevalonic aciduria [RCV003787546] Chr12:109591261 [GRCh38]
Chr12:110029066 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.824G>A (p.Cys275Tyr) single nucleotide variant Mevalonic aciduria [RCV003796743] Chr12:109591296 [GRCh38]
Chr12:110029101 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.387G>A (p.Leu129=) single nucleotide variant Mevalonic aciduria [RCV003806099] Chr12:109581410 [GRCh38]
Chr12:110019215 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.486G>A (p.Glu162=) single nucleotide variant Mevalonic aciduria [RCV003807594] Chr12:109581509 [GRCh38]
Chr12:110019314 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.134+16del deletion Methylmalonic aciduria, cblB type [RCV003608516] Chr12:109573331 [GRCh38]
Chr12:110011136 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.419G>T (p.Gly140Val) single nucleotide variant Mevalonic aciduria [RCV003808026] Chr12:109581442 [GRCh38]
Chr12:110019247 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.126A>G (p.Gln42=) single nucleotide variant Mevalonic aciduria [RCV003795981]|Retinal dystrophy [RCV003889337] Chr12:109576045 [GRCh38]
Chr12:110013850 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_000431.4(MVK):c.705C>T (p.Thr235=) single nucleotide variant Mevalonic aciduria [RCV003807534] Chr12:109590798 [GRCh38]
Chr12:110028603 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.507G>A (p.Lys169=) single nucleotide variant Mevalonic aciduria [RCV003783938] Chr12:109581530 [GRCh38]
Chr12:110019335 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.738T>A (p.Leu246=) single nucleotide variant Mevalonic aciduria [RCV003782660] Chr12:109590831 [GRCh38]
Chr12:110028636 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.319C>T (p.Leu107=) single nucleotide variant Mevalonic aciduria [RCV003806569] Chr12:109579894 [GRCh38]
Chr12:110017699 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1071G>A (p.Lys357=) single nucleotide variant Mevalonic aciduria [RCV003792228] Chr12:109596457 [GRCh38]
Chr12:110034262 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.153C>T (p.Leu51=) single nucleotide variant Mevalonic aciduria [RCV003804911] Chr12:109576072 [GRCh38]
Chr12:110013877 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.78+10C>T single nucleotide variant Mevalonic aciduria [RCV003787585] Chr12:109574910 [GRCh38]
Chr12:110012715 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.426C>A (p.Gly142=) single nucleotide variant Mevalonic aciduria [RCV003785458] Chr12:109581449 [GRCh38]
Chr12:110019254 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1008T>C (p.Gly336=) single nucleotide variant Mevalonic aciduria [RCV003795201] Chr12:109595150 [GRCh38]
Chr12:110032955 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.207A>G (p.Ser69=) single nucleotide variant Mevalonic aciduria [RCV003805431] Chr12:109576126 [GRCh38]
Chr12:110013931 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.769-5T>C single nucleotide variant Mevalonic aciduria [RCV003791457] Chr12:109591236 [GRCh38]
Chr12:110029041 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.39G>T (p.Gly13=) single nucleotide variant Methylmalonic aciduria, cblB type [RCV003608482] Chr12:109573442 [GRCh38]
Chr12:110011247 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.384C>T (p.Ser128=) single nucleotide variant Mevalonic aciduria [RCV003788499]|Retinal dystrophy [RCV003889334] Chr12:109581407 [GRCh38]
Chr12:110019212 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1040-6_1040-5inv inversion Mevalonic aciduria [RCV003789922] Chr12:109596420..109596421 [GRCh38]
Chr12:110034225..110034226 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.168T>C (p.Ile56=) single nucleotide variant Mevalonic aciduria [RCV003806082] Chr12:109576087 [GRCh38]
Chr12:110013892 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.33C>T (p.Gly11=) single nucleotide variant Methylmalonic aciduria, cblB type [RCV003607995] Chr12:109573448 [GRCh38]
Chr12:110011253 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.769-18C>T single nucleotide variant Mevalonic aciduria [RCV003791634] Chr12:109591223 [GRCh38]
Chr12:110029028 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.677+9G>A single nucleotide variant Mevalonic aciduria [RCV003782307] Chr12:109586808 [GRCh38]
Chr12:110024613 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.372-12G>C single nucleotide variant Mevalonic aciduria [RCV003792637] Chr12:109581383 [GRCh38]
Chr12:110019188 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.372-15C>T single nucleotide variant Mevalonic aciduria [RCV003788678] Chr12:109581380 [GRCh38]
Chr12:110019185 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.677+13T>G single nucleotide variant Mevalonic aciduria [RCV003794122] Chr12:109586812 [GRCh38]
Chr12:110024617 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.558C>T (p.Asn186=) single nucleotide variant Mevalonic aciduria [RCV003794763] Chr12:109586052 [GRCh38]
Chr12:110023857 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.769-10T>C single nucleotide variant Mevalonic aciduria [RCV003796593] Chr12:109591231 [GRCh38]
Chr12:110029036 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.769-7T>C single nucleotide variant Mevalonic aciduria [RCV003789465] Chr12:109591234 [GRCh38]
Chr12:110029039 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.670T>C (p.Leu224=) single nucleotide variant Mevalonic aciduria [RCV003780740]|not provided [RCV004546812] Chr12:109586792 [GRCh38]
Chr12:110024597 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.769-6dup duplication Mevalonic aciduria [RCV003792737] Chr12:109591234..109591235 [GRCh38]
Chr12:110029039..110029040 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.129C>A (p.Pro43=) single nucleotide variant Mevalonic aciduria [RCV003794806] Chr12:109576048 [GRCh38]
Chr12:110013853 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.227-20C>A single nucleotide variant Mevalonic aciduria [RCV003791944] Chr12:109579782 [GRCh38]
Chr12:110017587 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.371+20_371+22del deletion Mevalonic aciduria [RCV003782538] Chr12:109579965..109579967 [GRCh38]
Chr12:110017770..110017772 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1A>C (p.Met1Leu) single nucleotide variant Mevalonic aciduria [RCV003783599] Chr12:109574823 [GRCh38]
Chr12:110012628 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.371+19G>C single nucleotide variant Mevalonic aciduria [RCV003780638] Chr12:109579965 [GRCh38]
Chr12:110017770 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.717C>T (p.Val239=) single nucleotide variant Mevalonic aciduria [RCV003784702] Chr12:109590810 [GRCh38]
Chr12:110028615 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.78+10C>A single nucleotide variant Mevalonic aciduria [RCV003780035] Chr12:109574910 [GRCh38]
Chr12:110012715 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.778A>T (p.Ile260Phe) single nucleotide variant Mevalonic aciduria [RCV003805740] Chr12:109591250 [GRCh38]
Chr12:110029055 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.1098C>T (p.Asp366=) single nucleotide variant Mevalonic aciduria [RCV003805758] Chr12:109596484 [GRCh38]
Chr12:110034289 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.78+19C>G single nucleotide variant Mevalonic aciduria [RCV003790908] Chr12:109574919 [GRCh38]
Chr12:110012724 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1101C>T (p.Cys367=) single nucleotide variant Mevalonic aciduria [RCV003782685] Chr12:109596487 [GRCh38]
Chr12:110034292 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1040-15C>T single nucleotide variant Mevalonic aciduria [RCV003790708] Chr12:109596411 [GRCh38]
Chr12:110034216 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1029C>T (p.Leu343=) single nucleotide variant Mevalonic aciduria [RCV003793025] Chr12:109595171 [GRCh38]
Chr12:110032976 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1066A>G (p.Thr356Ala) single nucleotide variant Mevalonic aciduria [RCV003794685] Chr12:109596452 [GRCh38]
Chr12:110034257 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.316C>T (p.Arg106Cys) single nucleotide variant Mevalonic aciduria [RCV003788838] Chr12:109579891 [GRCh38]
Chr12:110017696 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.9A>G (p.Ser3=) single nucleotide variant Mevalonic aciduria [RCV003786521] Chr12:109574831 [GRCh38]
Chr12:110012636 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.924C>A (p.Leu308=) single nucleotide variant Mevalonic aciduria [RCV003785419] Chr12:109595066 [GRCh38]
Chr12:110032871 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.885+15G>A single nucleotide variant Mevalonic aciduria [RCV003806378] Chr12:109591372 [GRCh38]
Chr12:110029177 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.886-19A>G single nucleotide variant Mevalonic aciduria [RCV003793403] Chr12:109595009 [GRCh38]
Chr12:110032814 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.762G>A (p.Leu254=) single nucleotide variant Mevalonic aciduria [RCV003784016] Chr12:109590855 [GRCh38]
Chr12:110028660 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.134+20G>A single nucleotide variant Methylmalonic aciduria, cblB type [RCV003607694] Chr12:109573327 [GRCh38]
Chr12:110011132 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1078C>T (p.Leu360=) single nucleotide variant Mevalonic aciduria [RCV003806787] Chr12:109596464 [GRCh38]
Chr12:110034269 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.71A>C (p.His24Pro) single nucleotide variant Mevalonic aciduria [RCV003781787] Chr12:109574893 [GRCh38]
Chr12:110012698 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.372-16C>A single nucleotide variant Mevalonic aciduria [RCV003805131] Chr12:109581379 [GRCh38]
Chr12:110019184 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.207_208del (p.Leu70fs) deletion Mevalonic aciduria [RCV003796932] Chr12:109576125..109576126 [GRCh38]
Chr12:110013930..110013931 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_052845.4(MMAB):c.55_57delinsTAA (p.Arg19Ter) indel Methylmalonic aciduria, cblB type [RCV003608641] Chr12:109573424..109573426 [GRCh38]
Chr12:110011229..110011231 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_052845.4(MMAB):c.134+14G>A single nucleotide variant Methylmalonic aciduria, cblB type [RCV003607166] Chr12:109573333 [GRCh38]
Chr12:110011138 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.395del (p.Val132fs) deletion Mevalonic aciduria [RCV003783601] Chr12:109581418 [GRCh38]
Chr12:110019223 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.651T>C (p.His217=) single nucleotide variant Mevalonic aciduria [RCV003779477] Chr12:109586773 [GRCh38]
Chr12:110024578 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.527+20G>A single nucleotide variant Mevalonic aciduria [RCV003794228] Chr12:109581570 [GRCh38]
Chr12:110019375 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.621_630del (p.Ser208fs) deletion Mevalonic aciduria [RCV003782884] Chr12:109586115..109586124 [GRCh38]
Chr12:110023920..110023929 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.632-6C>T single nucleotide variant Mevalonic aciduria [RCV003787217] Chr12:109586748 [GRCh38]
Chr12:110024553 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.417del (p.Ala141fs) deletion Mevalonic aciduria [RCV003782450] Chr12:109581435 [GRCh38]
Chr12:110019240 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.135C>T (p.Ser45=) single nucleotide variant Mevalonic aciduria [RCV003790853] Chr12:109576054 [GRCh38]
Chr12:110013859 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1113C>T (p.Ser371=) single nucleotide variant Mevalonic aciduria [RCV003791036] Chr12:109596499 [GRCh38]
Chr12:110034304 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.677+11G>A single nucleotide variant Mevalonic aciduria [RCV003793822] Chr12:109586810 [GRCh38]
Chr12:110024615 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.372-14C>T single nucleotide variant Mevalonic aciduria [RCV003780886] Chr12:109581381 [GRCh38]
Chr12:110019186 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.450G>T (p.Ser150=) single nucleotide variant Mevalonic aciduria [RCV003792360] Chr12:109581473 [GRCh38]
Chr12:110019278 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.527+17C>T single nucleotide variant Mevalonic aciduria [RCV003790063] Chr12:109581567 [GRCh38]
Chr12:110019372 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1135A>G (p.Ile379Val) single nucleotide variant Mevalonic aciduria [RCV003792962] Chr12:109596521 [GRCh38]
Chr12:110034326 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.147G>A (p.Val49=) single nucleotide variant Mevalonic aciduria [RCV003787848] Chr12:109576066 [GRCh38]
Chr12:110013871 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.527+7A>G single nucleotide variant Mevalonic aciduria [RCV003790669] Chr12:109581557 [GRCh38]
Chr12:110019362 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.300C>T (p.Asp100=) single nucleotide variant MVK-related disorder [RCV004539128]|Mevalonic aciduria [RCV003781478] Chr12:109579875 [GRCh38]
Chr12:110017680 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.226+17G>C single nucleotide variant Mevalonic aciduria [RCV003790295] Chr12:109576162 [GRCh38]
Chr12:110013967 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1143A>T (p.Ser381=) single nucleotide variant Mevalonic aciduria [RCV003790327] Chr12:109596529 [GRCh38]
Chr12:110034334 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1137C>T (p.Ile379=) single nucleotide variant Mevalonic aciduria [RCV003790571] Chr12:109596523 [GRCh38]
Chr12:110034328 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1102T>C (p.Leu368=) single nucleotide variant Mevalonic aciduria [RCV003782305] Chr12:109596488 [GRCh38]
Chr12:110034293 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.79-16G>A single nucleotide variant Mevalonic aciduria [RCV003782329] Chr12:109575982 [GRCh38]
Chr12:110013787 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.252C>A (p.Thr84=) single nucleotide variant Mevalonic aciduria [RCV003782805] Chr12:109579827 [GRCh38]
Chr12:110017632 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.372-18C>T single nucleotide variant Mevalonic aciduria [RCV003790379] Chr12:109581377 [GRCh38]
Chr12:110019182 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.886-12C>T single nucleotide variant Mevalonic aciduria [RCV003790749] Chr12:109595016 [GRCh38]
Chr12:110032821 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.457C>T (p.Leu153=) single nucleotide variant Mevalonic aciduria [RCV003808941] Chr12:109581480 [GRCh38]
Chr12:110019285 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1176C>A (p.Ala392=) single nucleotide variant Mevalonic aciduria [RCV003810056] Chr12:109596562 [GRCh38]
Chr12:110034367 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.435C>T (p.Ser145=) single nucleotide variant Mevalonic aciduria [RCV003799973] Chr12:109581458 [GRCh38]
Chr12:110019263 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.577G>A (p.Glu193Lys) single nucleotide variant Mevalonic aciduria [RCV003801070] Chr12:109586071 [GRCh38]
Chr12:110023876 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.513G>A (p.Gly171=) single nucleotide variant Mevalonic aciduria [RCV003800187] Chr12:109581536 [GRCh38]
Chr12:110019341 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.378G>A (p.Leu126=) single nucleotide variant Mevalonic aciduria [RCV003800215] Chr12:109581401 [GRCh38]
Chr12:110019206 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.769-5T>A single nucleotide variant Mevalonic aciduria [RCV003800260] Chr12:109591236 [GRCh38]
Chr12:110029041 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.807T>C (p.Asp269=) single nucleotide variant Mevalonic aciduria [RCV003800319] Chr12:109591279 [GRCh38]
Chr12:110029084 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.632-9T>C single nucleotide variant Mevalonic aciduria [RCV003800393] Chr12:109586745 [GRCh38]
Chr12:110024550 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1039+8G>A single nucleotide variant Mevalonic aciduria [RCV003810610] Chr12:109595189 [GRCh38]
Chr12:110032994 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1063del (p.Ala355fs) deletion Mevalonic aciduria [RCV003810626] Chr12:109596448 [GRCh38]
Chr12:110034253 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.805G>A (p.Asp269Asn) single nucleotide variant Mevalonic aciduria [RCV003798287] Chr12:109591277 [GRCh38]
Chr12:110029082 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.1062G>A (p.Glu354=) single nucleotide variant Mevalonic aciduria [RCV003812919] Chr12:109596448 [GRCh38]
Chr12:110034253 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.453G>T (p.Val151=) single nucleotide variant Mevalonic aciduria [RCV003800664] Chr12:109581476 [GRCh38]
Chr12:110019281 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.672A>G (p.Leu224=) single nucleotide variant Mevalonic aciduria [RCV003798581] Chr12:109586794 [GRCh38]
Chr12:110024599 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.659A>C (p.Lys220Thr) single nucleotide variant Mevalonic aciduria [RCV003813211] Chr12:109586781 [GRCh38]
Chr12:110024586 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.661_668dup (p.Leu224fs) duplication Mevalonic aciduria [RCV003808628] Chr12:109586782..109586783 [GRCh38]
Chr12:110024587..110024588 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.886-7C>T single nucleotide variant Mevalonic aciduria [RCV003799954] Chr12:109595021 [GRCh38]
Chr12:110032826 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.666A>G (p.Ser222=) single nucleotide variant Mevalonic aciduria [RCV003801132] Chr12:109586788 [GRCh38]
Chr12:110024593 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.629G>A (p.Trp210Ter) single nucleotide variant Mevalonic aciduria [RCV003815273] Chr12:109586123 [GRCh38]
Chr12:110023928 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.386_422del (p.Leu129fs) deletion Mevalonic aciduria [RCV003818135] Chr12:109581408..109581444 [GRCh38]
Chr12:110019213..110019249 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.1072C>T (p.Gln358Ter) single nucleotide variant Mevalonic aciduria [RCV003815725] Chr12:109596458 [GRCh38]
Chr12:110034263 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.42C>T (p.Val14=) single nucleotide variant Mevalonic aciduria [RCV003800637] Chr12:109574864 [GRCh38]
Chr12:110012669 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1149C>T (p.Thr383=) single nucleotide variant Mevalonic aciduria [RCV003818027] Chr12:109596535 [GRCh38]
Chr12:110034340 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.677+15G>A single nucleotide variant Mevalonic aciduria [RCV003797982] Chr12:109586814 [GRCh38]
Chr12:110024619 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.783G>A (p.Val261=) single nucleotide variant Mevalonic aciduria [RCV003801910] Chr12:109591255 [GRCh38]
Chr12:110029060 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.690C>G (p.Leu230=) single nucleotide variant Mevalonic aciduria [RCV003798665]|Retinal dystrophy [RCV003889338] Chr12:109590783 [GRCh38]
Chr12:110028588 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_000431.4(MVK):c.372-16C>G single nucleotide variant Mevalonic aciduria [RCV003812602] Chr12:109581379 [GRCh38]
Chr12:110019184 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.631+16G>A single nucleotide variant Mevalonic aciduria [RCV003818075] Chr12:109586141 [GRCh38]
Chr12:110023946 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.24C>T (p.Ser8=) single nucleotide variant Methylmalonic aciduria, cblB type [RCV003501008] Chr12:109573457 [GRCh38]
Chr12:110011262 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.318C>G (p.Arg106=) single nucleotide variant Mevalonic aciduria [RCV003799296] Chr12:109579893 [GRCh38]
Chr12:110017698 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.342C>T (p.Tyr114=) single nucleotide variant Mevalonic aciduria [RCV003798757] Chr12:109579917 [GRCh38]
Chr12:110017722 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.712A>T (p.Lys238Ter) single nucleotide variant Mevalonic aciduria [RCV003801959] Chr12:109590805 [GRCh38]
Chr12:110028610 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.15C>T (p.Val5=) single nucleotide variant Mevalonic aciduria [RCV003813343] Chr12:109574837 [GRCh38]
Chr12:110012642 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.459G>A (p.Leu153=) single nucleotide variant Mevalonic aciduria [RCV003801557] Chr12:109581482 [GRCh38]
Chr12:110019287 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.125A>C (p.Gln42Pro) single nucleotide variant Mevalonic aciduria [RCV003801680] Chr12:109576044 [GRCh38]
Chr12:110013849 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.46_49del (p.Leu16fs) deletion Mevalonic aciduria [RCV003800346] Chr12:109574866..109574869 [GRCh38]
Chr12:110012671..110012674 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.677+8G>T single nucleotide variant Mevalonic aciduria [RCV003809528] Chr12:109586807 [GRCh38]
Chr12:110024612 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.226+9A>G single nucleotide variant Mevalonic aciduria [RCV003800533] Chr12:109576154 [GRCh38]
Chr12:110013959 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.678-15_678-13del microsatellite Mevalonic aciduria [RCV003798353] Chr12:109590752..109590754 [GRCh38]
Chr12:110028557..110028559 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.768+18C>T single nucleotide variant Mevalonic aciduria [RCV003809622] Chr12:109590879 [GRCh38]
Chr12:110028684 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.24G>A (p.Val8=) single nucleotide variant Mevalonic aciduria [RCV003815206] Chr12:109574846 [GRCh38]
Chr12:110012651 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1122C>T (p.Ala374=) single nucleotide variant Mevalonic aciduria [RCV003815702] Chr12:109596508 [GRCh38]
Chr12:110034313 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1167C>T (p.Val389=) single nucleotide variant Mevalonic aciduria [RCV003815710] Chr12:109596553 [GRCh38]
Chr12:110034358 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.179G>A (p.Arg60Gln) single nucleotide variant Mevalonic aciduria [RCV003809920] Chr12:109576098 [GRCh38]
Chr12:110013903 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.227-15T>C single nucleotide variant Mevalonic aciduria [RCV003815756] Chr12:109579787 [GRCh38]
Chr12:110017592 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.78+20T>G single nucleotide variant Mevalonic aciduria [RCV003817759] Chr12:109574920 [GRCh38]
Chr12:110012725 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.477T>A (p.Thr159=) single nucleotide variant Mevalonic aciduria [RCV003813649] Chr12:109581500 [GRCh38]
Chr12:110019305 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.264G>C (p.Val88=) single nucleotide variant Mevalonic aciduria [RCV003801136] Chr12:109579839 [GRCh38]
Chr12:110017644 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.2T>A (p.Met1Lys) single nucleotide variant Methylmalonic aciduria, cblB type [RCV003500093] Chr12:109573479 [GRCh38]
Chr12:110011284 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_052845.4(MMAB):c.134+1G>T single nucleotide variant Methylmalonic aciduria, cblB type [RCV003501379] Chr12:109573346 [GRCh38]
Chr12:110011151 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_000431.4(MVK):c.664del (p.Ser222fs) deletion Mevalonic aciduria [RCV003809196] Chr12:109586784 [GRCh38]
Chr12:110024589 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.1068G>A (p.Thr356=) single nucleotide variant Mevalonic aciduria [RCV003798510] Chr12:109596454 [GRCh38]
Chr12:110034259 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.677+9G>T single nucleotide variant Mevalonic aciduria [RCV003815675] Chr12:109586808 [GRCh38]
Chr12:110024613 [GRCh37]
Chr12:12q24.11		 likely benign
NM_052845.4(MMAB):c.116del (p.Gly39fs) deletion Methylmalonic aciduria, cblB type [RCV003501935] Chr12:109573365 [GRCh38]
Chr12:110011170 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.677+19A>C single nucleotide variant Mevalonic aciduria [RCV003809102] Chr12:109586818 [GRCh38]
Chr12:110024623 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.886-22_886-20del deletion Mevalonic aciduria [RCV003813520] Chr12:109595006..109595008 [GRCh38]
Chr12:110032811..110032813 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.96C>T (p.Ser32=) single nucleotide variant Mevalonic aciduria [RCV003813582] Chr12:109576015 [GRCh38]
Chr12:110013820 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1027C>T (p.Leu343Phe) single nucleotide variant Mevalonic aciduria [RCV003802310] Chr12:109595169 [GRCh38]
Chr12:110032974 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.366G>A (p.Lys122=) single nucleotide variant Mevalonic aciduria [RCV003803508] Chr12:109579941 [GRCh38]
Chr12:110017746 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.78+20T>C single nucleotide variant Mevalonic aciduria [RCV003803667] Chr12:109574920 [GRCh38]
Chr12:110012725 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.951G>A (p.Gln317=) single nucleotide variant Mevalonic aciduria [RCV003802473] Chr12:109595093 [GRCh38]
Chr12:110032898 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1161C>T (p.Ser387=) single nucleotide variant Mevalonic aciduria [RCV003803761] Chr12:109596547 [GRCh38]
Chr12:110034352 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.632-8C>T single nucleotide variant Mevalonic aciduria [RCV003803303] Chr12:109586746 [GRCh38]
Chr12:110024551 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1014C>G (p.Gly338=) single nucleotide variant Mevalonic aciduria [RCV003803045] Chr12:109595156 [GRCh38]
Chr12:110032961 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.632-18A>T single nucleotide variant Mevalonic aciduria [RCV003802145] Chr12:109586736 [GRCh38]
Chr12:110024541 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.790C>G (p.Leu264Val) single nucleotide variant Mevalonic aciduria [RCV003803441] Chr12:109591262 [GRCh38]
Chr12:110029067 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.371+20A>T single nucleotide variant Mevalonic aciduria [RCV003803901] Chr12:109579966 [GRCh38]
Chr12:110017771 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.885+8C>T single nucleotide variant Mevalonic aciduria [RCV003803191] Chr12:109591365 [GRCh38]
Chr12:110029170 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.1124C>T (p.Pro375Leu) single nucleotide variant Mevalonic aciduria [RCV003802168] Chr12:109596510 [GRCh38]
Chr12:110034315 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.562T>C (p.Trp188Arg) single nucleotide variant Inborn genetic diseases [RCV004438505] Chr12:109586056 [GRCh38]
Chr12:110023861 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.1170G>A (p.Gln390=) single nucleotide variant MVK-related disorder [RCV004544102] Chr12:109596556 [GRCh38]
Chr12:110034361 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.734C>T (p.Ala245Val) single nucleotide variant Retinal dystrophy [RCV003889644] Chr12:109590827 [GRCh38]
Chr12:110028632 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.769-19T>G single nucleotide variant MVK-related disorder [RCV004534649] Chr12:109591222 [GRCh38]
Chr12:110029027 [GRCh37]
Chr12:12q24.11		 likely benign
NM_000431.4(MVK):c.535A>G (p.Lys179Glu) single nucleotide variant Retinal dystrophy [RCV003889643] Chr12:109586029 [GRCh38]
Chr12:110023834 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.235G>T (p.Asp79Tyr) single nucleotide variant Retinal dystrophy [RCV003889642] Chr12:109579810 [GRCh38]
Chr12:110017615 [GRCh37]
Chr12:12q24.11		 uncertain significance
NC_000012.11:g.(?_110028556)_(110029182_?)del deletion Mevalonic aciduria [RCV004578447] Chr12:110028556..110029182 [GRCh37]
Chr12:12q24.11		 pathogenic
NM_000431.4(MVK):c.368A>G (p.Gln123Arg) single nucleotide variant Inborn genetic diseases [RCV004645626] Chr12:109579943 [GRCh38]
Chr12:110017748 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.431G>T (p.Gly144Val) single nucleotide variant not specified [RCV004766716] Chr12:109581454 [GRCh38]
Chr12:110019259 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.845T>C (p.Met282Thr) single nucleotide variant not specified [RCV004699777] Chr12:109591317 [GRCh38]
Chr12:110029122 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_000431.4(MVK):c.71A>G (p.His24Arg) single nucleotide variant Mevalonic aciduria [RCV003338915] Chr12:109574893 [GRCh38]
Chr12:110012698 [GRCh37]
Chr12:12q24.11		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4985
Count of miRNA genes:1001
Interacting mature miRNAs:1252
Transcripts:ENST00000228510, ENST00000392727, ENST00000447878, ENST00000535044, ENST00000537237, ENST00000539335, ENST00000539575, ENST00000539696, ENST00000540353, ENST00000541384, ENST00000545516, ENST00000545774, ENST00000546277
Prediction methods:Microtar, Miranda, Rnahybrid
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298449UAE2_HUrinary albumin excretion QTL 2 (human)20.005Urinary albumin excretionurine albumin:creatinine ratio (ACR)12102836889128836889Human
1559125SPSL2_HSerum P-selectin level QTL 2 (human)2.59Serum P-selectin level1289897665115897665Human
406918088GWAS567064_Hdiet measurement QTL GWAS567064 (human)6e-11diet measurementfood intake measurement (CMO:0000772)12109577953109577954Human
407310222GWAS959198_Hchylomicron measurement, very low density lipoprotein cholesterol measurement, lipid measurement QTL GWAS959198 (human)9e-09chylomicron measurement, very low density lipoprotein cholesterol measurement, lipid measurementblood lipid measurement (CMO:0000050)12109589990109589991Human
407330638GWAS979614_Hinsomnia QTL GWAS979614 (human)8e-09insomnia12109579147109579148Human
407003209GWAS652185_Hhigh density lipoprotein cholesterol measurement QTL GWAS652185 (human)8e-24high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)12109578088109578089Human
407036809GWAS685785_Hmean platelet volume QTL GWAS685785 (human)1e-10mean platelet volumemean platelet volume (CMO:0001348)12109582315109582316Human
406902605GWAS551581_Hhigh density lipoprotein cholesterol measurement QTL GWAS551581 (human)6e-10high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)12109575834109575835Human
407256082GWAS905058_Homega-6 polyunsaturated fatty acid measurement QTL GWAS905058 (human)3e-09omega-6 polyunsaturated fatty acid measurement12109583089109583090Human
407054356GWAS703332_Hmean platelet volume QTL GWAS703332 (human)5e-13mean platelet volumemean platelet volume (CMO:0001348)12109574705109574706Human
407131347GWAS780323_Hcholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS780323 (human)2e-11cholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)12109588219109588220Human
1643264BW195_HBody weight QTL 195 (human)0.0151Body weightBMI1289897665115897665Human
407327899GWAS976875_Hfatty acid measurement QTL GWAS976875 (human)1e-10fatty acid measurement12109583089109583090Human
407378004GWAS1026980_Hobsolete_red blood cell distribution width QTL GWAS1026980 (human)3e-08obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)12109579320109579321Human
1357387BW58_HBody weight QTL 58 (human)2.30.0001Body weightfat free mass after exercise training1289438856115438856Human
407085340GWAS734316_Hirritability measurement QTL GWAS734316 (human)1e-08irritability measurement12109589990109589991Human
406947296GWAS596272_Hprotein measurement QTL GWAS596272 (human)3e-116protein measurement12109579146109579147Human
1643258BW205_HBody weight QTL 205 (human)4.080.00001Body fat amountpercent body fat1296630114122630114Human
407328867GWAS977843_Hlipid measurement, lipoprotein measurement QTL GWAS977843 (human)4e-08lipid measurement, lipoprotein measurementblood lipoprotein measurement (CMO:0002690)12109583089109583090Human
1357361BW37_HBody weight QTL 37 (human)4.080.00001Body fat amount12102836889116423339Human
1643452BW104_HBody weight QTL 104 (human)1.890.005Body fat amountabdominal visceral12102395874128395874Human
407091622GWAS740598_Hneuroticism measurement QTL GWAS740598 (human)2e-13neuroticism measurement12109589990109589991Human
406920999GWAS569975_Hlow density lipoprotein cholesterol measurement QTL GWAS569975 (human)3e-08low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)12109583089109583090Human
407318637GWAS967613_Hfatty acid measurement QTL GWAS967613 (human)2e-11fatty acid measurement12109583089109583090Human
407114735GWAS763711_Hprotein measurement QTL GWAS763711 (human)5e-15protein measurement12109589990109589991Human
407308716GWAS957692_Hchylomicron measurement, triglyceride measurement, very low density lipoprotein cholesterol measurement QTL GWAS957692 (human)5e-09chylomicron measurement, triglyceride measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)12109589990109589991Human
407106414GWAS755390_Hprotein measurement QTL GWAS755390 (human)8e-16protein measurement12109586736109586737Human
407082868GWAS731844_Hworry measurement QTL GWAS731844 (human)4e-10worry measurement12109589990109589991Human
407149183GWAS798159_Htotal cholesterol measurement QTL GWAS798159 (human)9e-14total cholesterol measurementblood total cholesterol level (CMO:0000051)12109575834109575835Human
407257659GWAS906635_Htotal cholesterol measurement QTL GWAS906635 (human)4e-12total cholesterol measurementblood total cholesterol level (CMO:0000051)12109591381109591382Human
407066173GWAS715149_Hhigh density lipoprotein particle size measurement QTL GWAS715149 (human)3e-14high density lipoprotein particle size measurementblood high density lipoprotein particle diameter (CMO:0002692)12109578088109578089Human
1358827MULTSCL22_HMultiple sclerosis susceptibility QTL 22 (human)Multiple sclerosis susceptibility1289897665115897665Human
407222714GWAS871690_Hinsomnia QTL GWAS871690 (human)3e-08insomnia12109579147109579148Human

Markers in Region
STS-N30046  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712110,034,833 - 110,035,038UniSTSGRCh37
Build 3612108,519,216 - 108,519,421RGDNCBI36
Celera12109,659,201 - 109,659,406RGD
Cytogenetic Map12q24UniSTS
HuRef12107,052,816 - 107,053,021UniSTS
GeneMap99-GB4 RH Map12430.3UniSTS
RH35869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712110,034,235 - 110,034,314UniSTSGRCh37
Build 3612108,518,618 - 108,518,697RGDNCBI36
Celera12109,658,603 - 109,658,682RGD
Cytogenetic Map12q24UniSTS
HuRef12107,052,218 - 107,052,297UniSTS
RH92084  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712110,024,639 - 110,024,806UniSTSGRCh37
Build 3612108,509,022 - 108,509,189RGDNCBI36
Celera12109,649,006 - 109,649,173RGD
Cytogenetic Map12q24UniSTS
HuRef12107,042,622 - 107,042,789UniSTS
GeneMap99-GB4 RH Map12427.21UniSTS
MVK_377  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712110,034,421 - 110,035,076UniSTSGRCh37
Build 3612108,518,804 - 108,519,459RGDNCBI36
Celera12109,658,789 - 109,659,444RGD
HuRef12107,052,404 - 107,053,059UniSTS
A001U02  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712110,034,907 - 110,035,012UniSTSGRCh37
Build 3612108,519,290 - 108,519,395RGDNCBI36
Celera12109,659,275 - 109,659,380RGD
Cytogenetic Map12q24UniSTS
HuRef12107,052,890 - 107,052,995UniSTS
GeneMap99-GB4 RH Map12427.06UniSTS
NCBI RH Map12711.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1949 465 2270 7304 6470 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001114185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001301182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001414511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001414512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001414513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001414514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001414515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_182758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_182759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_182760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_182762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF033345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF217536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016140 (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
  DC421549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ515860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M88468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R51202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000228510   ⟹   ENSP00000228510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12109,573,794 - 109,598,125 (+)Ensembl
Ensembl Acc Id: ENST00000392727   ⟹   ENSP00000376487
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12109,573,837 - 109,597,261 (+)Ensembl
Ensembl Acc Id: ENST00000447878   ⟹   ENSP00000415555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12109,573,793 - 109,597,236 (+)Ensembl
Ensembl Acc Id: ENST00000535044
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12109,573,341 - 109,586,098 (+)Ensembl
Ensembl Acc Id: ENST00000537237   ⟹   ENSP00000445382
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12109,573,814 - 109,596,581 (+)Ensembl
Ensembl Acc Id: ENST00000539335   ⟹   ENSP00000440379
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12109,573,255 - 109,581,535 (+)Ensembl
Ensembl Acc Id: ENST00000539575   ⟹   ENSP00000443551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12109,574,807 - 109,598,117 (+)Ensembl
Ensembl Acc Id: ENST00000539696   ⟹   ENSP00000439134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12109,573,805 - 109,597,262 (+)Ensembl
Ensembl Acc Id: ENST00000540353
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12109,587,861 - 109,597,262 (+)Ensembl
Ensembl Acc Id: ENST00000545516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12109,581,479 - 109,587,099 (+)Ensembl
Ensembl Acc Id: ENST00000545774   ⟹   ENSP00000443978
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12109,573,832 - 109,587,069 (+)Ensembl
Ensembl Acc Id: ENST00000546277   ⟹   ENSP00000438153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12109,573,280 - 109,597,235 (+)Ensembl
Ensembl Acc Id: ENST00000625889   ⟹   ENSP00000486846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12109,574,807 - 109,598,117 (+)Ensembl
Ensembl Acc Id: ENST00000629016   ⟹   ENSP00000486804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12109,574,807 - 109,597,262 (+)Ensembl
Ensembl Acc Id: ENST00000636529   ⟹   ENSP00000490904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12109,574,823 - 109,597,270 (+)Ensembl
Ensembl Acc Id: ENST00000636996   ⟹   ENSP00000490869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12109,574,830 - 109,597,263 (+)Ensembl
Ensembl Acc Id: ENST00000639206   ⟹   ENSP00000492778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12109,574,807 - 109,579,289 (+)Ensembl
Ensembl Acc Id: ENST00000697195   ⟹   ENSP00000513181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12109,573,918 - 109,597,202 (+)Ensembl
Ensembl Acc Id: ENST00000697196   ⟹   ENSP00000513182
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12109,574,813 - 109,597,202 (+)Ensembl
Ensembl Acc Id: ENST00000697197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12109,588,444 - 109,597,202 (+)Ensembl
Ensembl Acc Id: ENST00000697198
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12109,593,759 - 109,597,212 (+)Ensembl
RefSeq Acc Id: NM_000431   ⟹   NP_000422
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,573,794 - 109,598,125 (+)NCBI
GRCh3712110,011,500 - 110,035,071 (+)ENTREZGENE
Build 3612108,496,000 - 108,519,450 (+)NCBI Archive
HuRef12107,029,480 - 107,053,054 (+)ENTREZGENE
CHM1_112109,979,352 - 110,002,926 (+)NCBI
T2T-CHM13v2.012109,548,693 - 109,573,017 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001114185   ⟹   NP_001107657
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,573,794 - 109,598,125 (+)NCBI
GRCh3712110,011,500 - 110,035,071 (+)ENTREZGENE
HuRef12107,029,480 - 107,053,054 (+)ENTREZGENE
CHM1_112109,979,352 - 110,002,926 (+)NCBI
T2T-CHM13v2.012109,548,693 - 109,573,017 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001301182   ⟹   NP_001288111
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,573,794 - 109,598,125 (+)NCBI
CHM1_112109,979,352 - 110,002,926 (+)NCBI
T2T-CHM13v2.012109,548,693 - 109,573,017 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001414511   ⟹   NP_001401440
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,573,794 - 109,598,125 (+)NCBI
T2T-CHM13v2.012109,548,693 - 109,573,017 (+)NCBI
RefSeq Acc Id: NM_001414512   ⟹   NP_001401441
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,573,794 - 109,598,125 (+)NCBI
T2T-CHM13v2.012109,548,693 - 109,573,017 (+)NCBI
RefSeq Acc Id: NM_001414513   ⟹   NP_001401442
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,573,794 - 109,598,125 (+)NCBI
T2T-CHM13v2.012109,548,693 - 109,573,017 (+)NCBI
RefSeq Acc Id: NM_001414514   ⟹   NP_001401443
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,573,794 - 109,598,125 (+)NCBI
T2T-CHM13v2.012109,548,693 - 109,573,017 (+)NCBI
RefSeq Acc Id: NM_001414515   ⟹   NP_001401444
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,573,794 - 109,598,125 (+)NCBI
T2T-CHM13v2.012109,548,693 - 109,573,017 (+)NCBI
RefSeq Acc Id: NR_182758
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,573,794 - 109,598,125 (+)NCBI
T2T-CHM13v2.012109,548,693 - 109,573,017 (+)NCBI
RefSeq Acc Id: NR_182759
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,573,794 - 109,598,125 (+)NCBI
T2T-CHM13v2.012109,548,693 - 109,573,017 (+)NCBI
RefSeq Acc Id: NR_182760
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,573,794 - 109,598,125 (+)NCBI
T2T-CHM13v2.012109,548,693 - 109,573,017 (+)NCBI
RefSeq Acc Id: NR_182762
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,573,794 - 109,598,125 (+)NCBI
T2T-CHM13v2.012109,548,693 - 109,573,017 (+)NCBI
RefSeq Acc Id: XM_017019313   ⟹   XP_016874802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,573,291 - 109,598,125 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019314   ⟹   XP_016874803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,573,794 - 109,598,125 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047428873   ⟹   XP_047284829
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,573,272 - 109,598,125 (+)NCBI
RefSeq Acc Id: XM_054372089   ⟹   XP_054228064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012109,548,171 - 109,573,017 (+)NCBI
RefSeq Acc Id: XM_054372090   ⟹   XP_054228065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012109,548,190 - 109,573,017 (+)NCBI
Protein Sequences
Protein RefSeqs NP_000422 (Get FASTA)   NCBI Sequence Viewer  
  NP_001107657 (Get FASTA)   NCBI Sequence Viewer  
  NP_001288111 (Get FASTA)   NCBI Sequence Viewer  
  NP_001401440 (Get FASTA)   NCBI Sequence Viewer  
  NP_001401441 (Get FASTA)   NCBI Sequence Viewer  
  NP_001401442 (Get FASTA)   NCBI Sequence Viewer  
  NP_001401443 (Get FASTA)   NCBI Sequence Viewer  
  NP_001401444 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874802 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874803 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284829 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228064 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228065 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB59362 (Get FASTA)   NCBI Sequence Viewer  
  AAF82406 (Get FASTA)   NCBI Sequence Viewer  
  AAF82407 (Get FASTA)   NCBI Sequence Viewer  
  AAH16140 (Get FASTA)   NCBI Sequence Viewer  
  ACS13750 (Get FASTA)   NCBI Sequence Viewer  
  ACS13751 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33663 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33664 (Get FASTA)   NCBI Sequence Viewer  
  BAD92959 (Get FASTA)   NCBI Sequence Viewer  
  BAG38043 (Get FASTA)   NCBI Sequence Viewer  
  BAH11458 (Get FASTA)   NCBI Sequence Viewer  
  BAH12037 (Get FASTA)   NCBI Sequence Viewer  
  EAW97870 (Get FASTA)   NCBI Sequence Viewer  
  EAW97871 (Get FASTA)   NCBI Sequence Viewer  
  EAW97872 (Get FASTA)   NCBI Sequence Viewer  
  EAW97873 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000228510
  ENSP00000228510.3
  ENSP00000376487
  ENSP00000376487.3
  ENSP00000415555.2
  ENSP00000438153.1
  ENSP00000438153.2
  ENSP00000439134.1
  ENSP00000440379.1
  ENSP00000443978.1
  ENSP00000445382.1
  ENSP00000490869
  ENSP00000490869.1
  ENSP00000513181.1
  ENSP00000513182.1
GenBank Protein Q03426 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000422   ⟸   NM_000431
- Peptide Label: isoform a
- UniProtKB: Q03426 (UniProtKB/Swiss-Prot),   B2RDU6 (UniProtKB/TrEMBL),   Q59ET9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001107657   ⟸   NM_001114185
- Peptide Label: isoform a
- UniProtKB: Q03426 (UniProtKB/Swiss-Prot),   B2RDU6 (UniProtKB/TrEMBL),   Q59ET9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001288111   ⟸   NM_001301182
- Peptide Label: isoform b
- UniProtKB: B7Z301 (UniProtKB/TrEMBL),   F5H8H2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016874802   ⟸   XM_017019313
- Peptide Label: isoform X2
- UniProtKB: F5H8H2 (UniProtKB/TrEMBL),   B7Z301 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016874803   ⟸   XM_017019314
- Peptide Label: isoform X3
- UniProtKB: Q03426 (UniProtKB/Swiss-Prot),   B2RDU6 (UniProtKB/TrEMBL),   Q59ET9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000228510   ⟸   ENST00000228510
Ensembl Acc Id: ENSP00000490904   ⟸   ENST00000636529
Ensembl Acc Id: ENSP00000490869   ⟸   ENST00000636996
Ensembl Acc Id: ENSP00000443978   ⟸   ENST00000545774
Ensembl Acc Id: ENSP00000438153   ⟸   ENST00000546277
Ensembl Acc Id: ENSP00000486846   ⟸   ENST00000625889
Ensembl Acc Id: ENSP00000492778   ⟸   ENST00000639206
Ensembl Acc Id: ENSP00000486804   ⟸   ENST00000629016
Ensembl Acc Id: ENSP00000445382   ⟸   ENST00000537237
Ensembl Acc Id: ENSP00000376487   ⟸   ENST00000392727
Ensembl Acc Id: ENSP00000443551   ⟸   ENST00000539575
Ensembl Acc Id: ENSP00000440379   ⟸   ENST00000539335
Ensembl Acc Id: ENSP00000439134   ⟸   ENST00000539696
Ensembl Acc Id: ENSP00000415555   ⟸   ENST00000447878
RefSeq Acc Id: XP_047284829   ⟸   XM_047428873
- Peptide Label: isoform X1
Ensembl Acc Id: ENSP00000513181   ⟸   ENST00000697195
Ensembl Acc Id: ENSP00000513182   ⟸   ENST00000697196
RefSeq Acc Id: NP_001401440   ⟸   NM_001414511
- Peptide Label: isoform a
- UniProtKB: Q03426 (UniProtKB/Swiss-Prot),   B2RDU6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001401441   ⟸   NM_001414512
- Peptide Label: isoform c
RefSeq Acc Id: NP_001401442   ⟸   NM_001414513
- Peptide Label: isoform d
RefSeq Acc Id: NP_001401443   ⟸   NM_001414514
- Peptide Label: isoform e
RefSeq Acc Id: NP_001401444   ⟸   NM_001414515
- Peptide Label: isoform f
- UniProtKB: B7Z1C2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054228064   ⟸   XM_054372089
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054228065   ⟸   XM_054372090
- Peptide Label: isoform X2
- UniProtKB: F5H8H2 (UniProtKB/TrEMBL)
Protein Domains
GHMP kinase C-terminal   GHMP kinase N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q03426-F1-model_v2 AlphaFold Q03426 1-396 view protein structure

Promoters
RGD ID:6790265
Promoter ID:HG_KWN:16613
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_000431,   NM_001114185,   NM_052845,   UC001TOV.1,   UC001TOW.1,   UC001TOX.1,   UC001TOZ.2
Position:
Human AssemblyChrPosition (strand)Source
Build 3612108,495,446 - 108,495,987 (-)MPROMDB
RGD ID:6790285
Promoter ID:HG_KWN:16614
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:ENST00000228510,   UC001TPB.2,   UC001TPC.2
Position:
Human AssemblyChrPosition (strand)Source
Build 3612108,496,086 - 108,496,827 (+)MPROMDB
RGD ID:7225355
Promoter ID:EPDNEW_H18422
Type:initiation region
Name:MVK_1
Description:mevalonate kinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18424  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,573,794 - 109,573,854EPDNEW
RGD ID:7225357
Promoter ID:EPDNEW_H18424
Type:single initiation site
Name:MVK_2
Description:mevalonate kinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18422  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,573,997 - 109,574,057EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7530 AgrOrtholog
COSMIC MVK COSMIC
Ensembl Genes ENSG00000110921 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000228510 ENTREZGENE
  ENST00000228510.8 UniProtKB/Swiss-Prot
  ENST00000392727 ENTREZGENE
  ENST00000392727.7 UniProtKB/TrEMBL
  ENST00000447878.6 UniProtKB/TrEMBL
  ENST00000537237.5 UniProtKB/TrEMBL
  ENST00000539335.5 UniProtKB/TrEMBL
  ENST00000539696.6 UniProtKB/TrEMBL
  ENST00000545774.5 UniProtKB/TrEMBL
  ENST00000546277.5 UniProtKB/TrEMBL
  ENST00000546277.6 UniProtKB/Swiss-Prot
  ENST00000636996 ENTREZGENE
  ENST00000636996.1 UniProtKB/TrEMBL
  ENST00000697195.1 UniProtKB/TrEMBL
  ENST00000697196.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.230.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.70.890 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000110921 GTEx
HGNC ID HGNC:7530 ENTREZGENE
Human Proteome Map MVK Human Proteome Map
InterPro GHMP_kinase_C_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GHMP_kinase_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GHMP_kinase_N_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GHMP_knse_ATP-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mev_gal_kin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_S5_D2-typ_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_S5_D2-typ_fold_subgr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4598 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4598 ENTREZGENE
OMIM 251170 OMIM
PANTHER MEVALONATE KINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR43290 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam GHMP_kinases_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GHMP_kinases_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31331 PharmGKB
PRINTS MEVGALKINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE GHMP_KINASES_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54211 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55060 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0B4J236_HUMAN UniProtKB/TrEMBL
  A0A1B0GWC2_HUMAN UniProtKB/TrEMBL
  A0A8V8TMD0_HUMAN UniProtKB/TrEMBL
  B2RDU6 ENTREZGENE, UniProtKB/TrEMBL
  B7Z1C2 ENTREZGENE, UniProtKB/TrEMBL
  B7Z301 ENTREZGENE, UniProtKB/TrEMBL
  F5GXC0_HUMAN UniProtKB/TrEMBL
  F5H092_HUMAN UniProtKB/TrEMBL
  F5H163_HUMAN UniProtKB/TrEMBL
  F5H368_HUMAN UniProtKB/TrEMBL
  F5H8H2 ENTREZGENE, UniProtKB/TrEMBL
  KIME_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q59ET9 ENTREZGENE, UniProtKB/TrEMBL