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.71A>G (p.His24Arg) single nucleotide variant Mevalonic aciduria [RCV003338915] Chr12:109574893 [GRCh38]
Chr12:110012698 [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] Chr12:1095