MMUT (methylmalonyl-CoA mutase) - Rat Genome Database

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Gene: MMUT (methylmalonyl-CoA mutase) Homo sapiens
Analyze
Symbol: MMUT
Name: methylmalonyl-CoA mutase
RGD ID: 1344450
HGNC Page HGNC
Description: Exhibits several functions, including cobalamin binding activity; methylmalonyl-CoA mutase activity; and protein homodimerization activity. Involved in homocysteine metabolic process and positive regulation of GTPase activity. Localizes to mitochondrial matrix. Implicated in methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: MCM; methylmalonyl CoA mutase; methylmalonyl Coenzyme A mutase; methylmalonyl-CoA isomerase; methylmalonyl-CoA mutase c.*192delA; methylmalonyl-CoA mutase c.*51C>G; methylmalonyl-CoA mutase variant c.1495G>A; methylmalonyl-CoA mutase variant c.2011A>G; methylmalonyl-CoA mutase variant c.2150G>T; methylmalonyl-CoA mutase variant c.322C>T; methylmalonyl-CoA mutase variant c.613_615delGAA; methylmalonyl-CoA mutase variant c.636G>A; methylmalonyl-CoA mutase variant c.643G>A; methylmalonyl-CoA mutase, mitochondrial; MUT; mutant methylmalonyl CoA mutase; truncated methylmalonyl CoA mutase; truncated methylmalonyl-CoA mutase variant c.1420C>T; truncated methylmalonyl-CoA mutase variant c.2179C>T; truncated methylmalonyl-CoA mutase variant c.91C>T
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl649,430,360 - 49,463,253 (-)EnsemblGRCh38hg38GRCh38
GRCh38649,430,360 - 49,463,298 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37649,398,073 - 49,430,966 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36649,506,950 - 49,538,990 (-)NCBINCBI36hg18NCBI36
Build 34649,506,956 - 49,538,811NCBI
Celera650,954,278 - 50,987,247 (-)NCBI
Cytogenetic Map6p12.3NCBI
HuRef649,126,994 - 49,159,962 (-)NCBIHuRef
CHM1_1649,401,109 - 49,434,080 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA)
mitochondrial matrix  (IDA,TAS)
mitochondrion  (IBA,IDA)

Molecular Function

References

Additional References at PubMed
PMID:24458   PMID:1346616   PMID:1351030   PMID:1670635   PMID:1977311   PMID:1978672   PMID:1980486   PMID:2453061   PMID:2567699   PMID:2881300   PMID:2907507   PMID:6102092  
PMID:6124211   PMID:7909321   PMID:7912889   PMID:8990001   PMID:9242908   PMID:9285782   PMID:9503014   PMID:9554742   PMID:10923046   PMID:11350191   PMID:11528502   PMID:12402345  
PMID:12477932   PMID:14574404   PMID:14654360   PMID:14718574   PMID:15489334   PMID:15643616   PMID:15781192   PMID:16281286   PMID:16344560   PMID:16641088   PMID:17113806   PMID:17401587  
PMID:17410422   PMID:17445044   PMID:17597648   PMID:17728257   PMID:17957493   PMID:17966092   PMID:18940555   PMID:19088183   PMID:19744961   PMID:19806564   PMID:20031578   PMID:20186120  
PMID:20301334   PMID:20301409   PMID:20800603   PMID:20852008   PMID:20876572   PMID:20877624   PMID:21138732   PMID:21604717   PMID:21873635   PMID:23045948   PMID:23311430   PMID:23824729  
PMID:23873214   PMID:24330302   PMID:24406457   PMID:25125334   PMID:25921289   PMID:25982642   PMID:26186194   PMID:26370686   PMID:26449400   PMID:26454439   PMID:26496610   PMID:26830710  
PMID:26871637   PMID:27060300   PMID:27233228   PMID:28101778   PMID:28380382   PMID:28497574   PMID:28514442   PMID:28943303   PMID:29265583   PMID:29568061   PMID:30098236   PMID:30585266  
PMID:30913280   PMID:31303505   PMID:31586073   PMID:31741433   PMID:32013889   PMID:32679819   PMID:32814053   PMID:32877691  


Genomics

Comparative Map Data
MMUT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl649,430,360 - 49,463,253 (-)EnsemblGRCh38hg38GRCh38
GRCh38649,430,360 - 49,463,298 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37649,398,073 - 49,430,966 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36649,506,950 - 49,538,990 (-)NCBINCBI36hg18NCBI36
Build 34649,506,956 - 49,538,811NCBI
Celera650,954,278 - 50,987,247 (-)NCBI
Cytogenetic Map6p12.3NCBI
HuRef649,126,994 - 49,159,962 (-)NCBIHuRef
CHM1_1649,401,109 - 49,434,080 (-)NCBICHM1_1
Mmut
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391741,245,576 - 41,272,880 (+)NCBIGRCm39mm39
GRCm39 Ensembl1741,245,576 - 41,272,879 (+)Ensembl
GRCm381740,934,685 - 40,961,990 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1740,934,685 - 40,961,988 (+)EnsemblGRCm38mm10GRCm38
MGSCv371741,071,634 - 41,098,938 (+)NCBIGRCm37mm9NCBIm37
MGSCv361740,398,258 - 40,425,133 (+)NCBImm8
Celera1744,347,903 - 44,375,209 (+)NCBICelera
Cytogenetic Map17B2NCBI
cM Map1719.55NCBI
Mmut
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2919,928,720 - 19,956,985 (-)NCBI
Rnor_6.0 Ensembl923,323,936 - 23,352,668 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0923,323,934 - 23,352,144 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0922,182,975 - 22,211,162 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4916,065,495 - 16,093,956 (-)NCBIRGSC3.4rn4RGSC3.4
Celera917,606,384 - 17,634,555 (-)NCBICelera
Cytogenetic Map9q13NCBI
Mmut
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554118,363,142 - 8,399,216 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554118,363,142 - 8,397,839 (+)NCBIChiLan1.0ChiLan1.0
MMUT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1650,269,644 - 50,302,593 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl650,269,644 - 50,302,593 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0649,007,500 - 49,040,470 (-)NCBIMhudiblu_PPA_v0panPan3
MMUT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11217,306,074 - 17,339,921 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1217,307,522 - 17,339,897 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1217,207,742 - 17,239,948 (-)NCBI
ROS_Cfam_1.01217,803,522 - 17,836,150 (-)NCBI
UMICH_Zoey_3.11217,323,580 - 17,355,905 (-)NCBI
UNSW_CanFamBas_1.01217,428,613 - 17,461,241 (-)NCBI
UU_Cfam_GSD_1.01217,558,439 - 17,590,821 (-)NCBI
Mmut
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494652,718,554 - 52,751,973 (-)NCBI
SpeTri2.0NW_00493647611,208,251 - 11,241,648 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MMUT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl743,597,292 - 43,624,609 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1743,597,313 - 43,624,603 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2750,107,559 - 50,128,711 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MMUT
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11722,922,262 - 22,957,742 (+)NCBI
ChlSab1.1 Ensembl1722,922,307 - 22,957,879 (+)Ensembl
Mmut
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462479914,404,873 - 14,433,803 (-)NCBI

Position Markers
RH75687  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37649,398,484 - 49,398,711UniSTSGRCh37
Build 36649,506,443 - 49,506,670RGDNCBI36
Celera650,954,689 - 50,954,916RGD
Cytogenetic Map6p12.3UniSTS
HuRef649,127,405 - 49,127,632UniSTS
RH103307  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37649,398,551 - 49,398,644UniSTSGRCh37
Build 36649,506,510 - 49,506,603RGDNCBI36
Celera650,954,756 - 50,954,849RGD
Cytogenetic Map6p12.3UniSTS
HuRef649,127,472 - 49,127,565UniSTS
GeneMap99-GB4 RH Map6183.12UniSTS
GDB:391899  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37649,403,123 - 49,403,352UniSTSGRCh37
Build 36649,511,082 - 49,511,311RGDNCBI36
Celera650,959,328 - 50,959,557RGD
Cytogenetic Map6p12.3UniSTS
HuRef649,132,044 - 49,132,273UniSTS
WI-20050  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37649,398,095 - 49,398,367UniSTSGRCh37
Build 36649,506,054 - 49,506,326RGDNCBI36
Celera650,954,300 - 50,954,572RGD
Cytogenetic Map6p12.3UniSTS
HuRef649,127,016 - 49,127,288UniSTS
GeneMap99-GB4 RH Map6188.99UniSTS
Whitehead-RH Map6278.7UniSTS
NCBI RH Map6693.7UniSTS
MUT_8484  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37649,398,857 - 49,399,569UniSTSGRCh37
Build 36649,506,816 - 49,507,528RGDNCBI36
Celera650,955,062 - 50,955,774RGD
HuRef649,127,778 - 49,128,490UniSTS
G19840  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37649,398,194 - 49,398,359UniSTSGRCh37
Build 36649,506,153 - 49,506,318RGDNCBI36
Celera650,954,399 - 50,954,564RGD
Cytogenetic Map6p12.3UniSTS
HuRef649,127,115 - 49,127,280UniSTS
A002A07  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37649,398,194 - 49,398,359UniSTSGRCh37
Build 36649,506,153 - 49,506,318RGDNCBI36
Celera650,954,399 - 50,954,564RGD
Cytogenetic Map6p12.3UniSTS
HuRef649,127,115 - 49,127,280UniSTS
GeneMap99-GB4 RH Map6182.92UniSTS
NCBI RH Map6693.7UniSTS
SHGC-35796  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37649,399,071 - 49,399,296UniSTSGRCh37
Build 36649,507,030 - 49,507,255RGDNCBI36
Celera650,955,276 - 50,955,501RGD
Cytogenetic Map6p12.3UniSTS
HuRef649,127,992 - 49,128,217UniSTS
Stanford-G3 RH Map62653.0UniSTS
NCBI RH Map6694.8UniSTS
GeneMap99-G3 RH Map62785.0UniSTS
RH17726  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37649,399,048 - 49,399,297UniSTSGRCh37
Build 36649,507,007 - 49,507,256RGDNCBI36
Celera650,955,253 - 50,955,502RGD
Cytogenetic Map6p12.3UniSTS
HuRef649,127,969 - 49,128,218UniSTS
GeneMap99-GB4 RH Map6185.24UniSTS
NCBI RH Map6693.7UniSTS
RH70345  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37649,399,272 - 49,399,354UniSTSGRCh37
Build 36649,507,231 - 49,507,313RGDNCBI36
Celera650,955,477 - 50,955,559RGD
Cytogenetic Map6p12.3UniSTS
HuRef649,128,193 - 49,128,275UniSTS
GeneMap99-GB4 RH Map6185.24UniSTS
NCBI RH Map6693.7UniSTS
GDB:375109  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6p12.3UniSTS
GDB:607719  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6p12.3UniSTS
GDB:375093  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6p12.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:452
Count of miRNA genes:338
Interacting mature miRNAs:354
Transcripts:ENST00000274813
Prediction methods:Miranda, Targetscan
Result types:miRGate_prediction

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

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


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2377 1954 1706 620 1133 461 4300 1935 3236 386 1429 1547 173 1196 2737 4 1
Low 62 1023 20 4 805 4 57 261 498 33 31 66 2 1 8 51 2 1
Below cutoff 14 13 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005249143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA444307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA777441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB290266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC594079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC594080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC594081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC594082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC594083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC594084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC594085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC594086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC594087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC594088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC594089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC594090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC594091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC594092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC594093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC594094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC594095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC594096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC594097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC594098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF030882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP289323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP289324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP750178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR026956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR026957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M65131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF170176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF170177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF170178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF170179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF170180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF170181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF170182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF170183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF170184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF170185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF170186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF170187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000274813   ⟹   ENSP00000274813
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl649,430,360 - 49,463,253 (-)Ensembl
RefSeq Acc Id: NM_000255   ⟹   NP_000246
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38649,430,360 - 49,463,253 (-)NCBI
GRCh37649,398,073 - 49,431,041 (-)ENTREZGENE
GRCh37649,398,073 - 49,431,041 (-)NCBI
Build 36649,506,950 - 49,538,990 (-)NCBI Archive
HuRef649,126,994 - 49,159,962 (-)ENTREZGENE
CHM1_1649,401,109 - 49,434,080 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005249143   ⟹   XP_005249200
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38649,431,278 - 49,463,298 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000246 (Get FASTA)   NCBI Sequence Viewer  
  XP_005249200 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA59569 (Get FASTA)   NCBI Sequence Viewer  
  AAH16282 (Get FASTA)   NCBI Sequence Viewer  
  AAP36102 (Get FASTA)   NCBI Sequence Viewer  
  AGL09917 (Get FASTA)   NCBI Sequence Viewer  
  AGL09918 (Get FASTA)   NCBI Sequence Viewer  
  AGL09919 (Get FASTA)   NCBI Sequence Viewer  
  AGL09920 (Get FASTA)   NCBI Sequence Viewer  
  AGL09921 (Get FASTA)   NCBI Sequence Viewer  
  AGL09922 (Get FASTA)   NCBI Sequence Viewer  
  AGL09923 (Get FASTA)   NCBI Sequence Viewer  
  AGL09924 (Get FASTA)   NCBI Sequence Viewer  
  AGL09925 (Get FASTA)   NCBI Sequence Viewer  
  AGL09926 (Get FASTA)   NCBI Sequence Viewer  
  AGL09927 (Get FASTA)   NCBI Sequence Viewer  
  AGL09928 (Get FASTA)   NCBI Sequence Viewer  
  AGL09929 (Get FASTA)   NCBI Sequence Viewer  
  AGL09930 (Get FASTA)   NCBI Sequence Viewer  
  AGL09931 (Get FASTA)   NCBI Sequence Viewer  
  AGL09932 (Get FASTA)   NCBI Sequence Viewer  
  AGL09933 (Get FASTA)   NCBI Sequence Viewer  
  AGL09934 (Get FASTA)   NCBI Sequence Viewer  
  AGL09935 (Get FASTA)   NCBI Sequence Viewer  
  AGU16980 (Get FASTA)   NCBI Sequence Viewer  
  AJC52540 (Get FASTA)   NCBI Sequence Viewer  
  AJC52541 (Get FASTA)   NCBI Sequence Viewer  
  AKK23339 (Get FASTA)   NCBI Sequence Viewer  
  AKK23340 (Get FASTA)   NCBI Sequence Viewer  
  AKQ98241 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33659 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33660 (Get FASTA)   NCBI Sequence Viewer  
  AWH55635 (Get FASTA)   NCBI Sequence Viewer  
  AWH55636 (Get FASTA)   NCBI Sequence Viewer  
  AWH55637 (Get FASTA)   NCBI Sequence Viewer  
  AWH55638 (Get FASTA)   NCBI Sequence Viewer  
  AWH55639 (Get FASTA)   NCBI Sequence Viewer  
  AWH55640 (Get FASTA)   NCBI Sequence Viewer  
  AWH55641 (Get FASTA)   NCBI Sequence Viewer  
  AWH55642 (Get FASTA)   NCBI Sequence Viewer  
  AWH55643 (Get FASTA)   NCBI Sequence Viewer  
  AWH55644 (Get FASTA)   NCBI Sequence Viewer  
  AWH55645 (Get FASTA)   NCBI Sequence Viewer  
  AWH55646 (Get FASTA)   NCBI Sequence Viewer  
  BAD92082 (Get FASTA)   NCBI Sequence Viewer  
  BAF85257 (Get FASTA)   NCBI Sequence Viewer  
  BAG35498 (Get FASTA)   NCBI Sequence Viewer  
  EAX04329 (Get FASTA)   NCBI Sequence Viewer  
  EAX04330 (Get FASTA)   NCBI Sequence Viewer  
  EAX04331 (Get FASTA)   NCBI Sequence Viewer  
  P22033 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000246   ⟸   NM_000255
- Peptide Label: precursor
- UniProtKB: P22033 (UniProtKB/Swiss-Prot),   A0A024RD82 (UniProtKB/TrEMBL),   B2R6K1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005249200   ⟸   XM_005249143
- Peptide Label: isoform X1
- UniProtKB: P22033 (UniProtKB/Swiss-Prot),   A0A024RD82 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000274813   ⟸   ENST00000274813
Protein Domains
B12-binding

Promoters
RGD ID:7208289
Promoter ID:EPDNEW_H9891
Type:initiation region
Name:MUT_1
Description:methylmalonyl-CoA mutase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38649,463,253 - 49,463,313EPDNEW
RGD ID:6804487
Promoter ID:HG_KWN:53790
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000371200,   NM_018132,   OTTHUMT00000040854
Position:
Human AssemblyChrPosition (strand)Source
Build 36649,537,926 - 49,539,062 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000255.4(MMUT):c.571G>A (p.Ala191Thr) single nucleotide variant not provided [RCV000520146] Chr6:49457873 [GRCh38]
Chr6:49425586 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.647C>A (p.Thr216Asn) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000554441]|not provided [RCV001320345] Chr6:49457797 [GRCh38]
Chr6:49425510 [GRCh37]
Chr6:6p12.3
uncertain significance
MUT, 2-BP DEL, 769CA deletion METHYLMALONIC ACIDURIA, mut(-) TYPE [RCV000001960] Chr6:6p21 pathogenic
MUT, IVS11, C-A, -891 single nucleotide variant METHYLMALONIC ACIDURIA, mut(0) TYPE [RCV000001966] Chr6:6p21 pathogenic
MUT, 1808G-A single nucleotide variant METHYLMALONIC ACIDURIA, mut(0) TYPE [RCV000001967] Chr6:6p21 pathogenic
NM_000255.4(MMUT):c.1837C>A (p.Arg613Ser) single nucleotide variant not provided [RCV000723270] Chr6:49440325 [GRCh38]
Chr6:49408038 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1936del (p.Asp646fs) deletion not provided [RCV000722688] Chr6:49440226 [GRCh38]
Chr6:49407939 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.317C>T (p.Thr106Ile) single nucleotide variant not provided [RCV000722411] Chr6:49459150 [GRCh38]
Chr6:49426863 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1898T>G (p.Val633Gly) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001211575]|not provided [RCV000519959] Chr6:49440264 [GRCh38]
Chr6:49407977 [GRCh37]
Chr6:6p12.3
pathogenic|likely pathogenic
NM_000255.4(MMUT):c.2020C>G (p.Leu674Val) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000528595] Chr6:49435560 [GRCh38]
Chr6:49403273 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.295A>G (p.Met99Val) single nucleotide variant not provided [RCV000521248] Chr6:49459172 [GRCh38]
Chr6:49426885 [GRCh37]
Chr6:6p12.3
likely pathogenic|conflicting interpretations of pathogenicity
NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs) deletion Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000578275] Chr6:49451671..49451672 [GRCh38]
Chr6:49419384..49419385 [GRCh37]
Chr6:6p12.3
pathogenic|likely pathogenic
NM_000255.4(MMUT):c.160A>T (p.Lys54Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000551650] Chr6:49459307 [GRCh38]
Chr6:49427020 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter) single nucleotide variant METHYLMALONIC ACIDURIA, mut(0) TYPE [RCV000001954]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000203362] Chr6:49459415 [GRCh38]
Chr6:49427128 [GRCh37]
Chr6:6p12.3
pathogenic|likely pathogenic
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg) single nucleotide variant METHYLMALONIC ACIDURIA, mut(0) TYPE [RCV000001955]|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001271724]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000203407]|not provided [RCV000374459] Chr6:49459154 [GRCh38]
Chr6:49426867 [GRCh37]
Chr6:6p12.3
pathogenic|likely pathogenic
NM_000255.4(MMUT):c.1130C>A (p.Ala377Glu) single nucleotide variant METHYLMALONIC ACIDURIA, mut(0) TYPE [RCV000001956] Chr6:49451668 [GRCh38]
Chr6:49419381 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.278G>A (p.Arg93His) single nucleotide variant METHYLMALONIC ACIDURIA, mut(0) TYPE [RCV000001957]|Methylmalonic acidemia [RCV000780493]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000175568]|not provided [RCV000724019] Chr6:49459189 [GRCh38]
Chr6:49426902 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val) single nucleotide variant METHYLMALONIC ACIDURIA, mut(-) TYPE [RCV000001958]|Methylmalonic acidemia [RCV000781613]|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001276629]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000174456]|not provided [RCV000078445] Chr6:49431831 [GRCh38]
Chr6:49399544 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.349G>T (p.Glu117Ter) single nucleotide variant METHYLMALONIC ACIDURIA, mut(-) TYPE [RCV000001959]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000670836] Chr6:49459118 [GRCh38]
Chr6:49426831 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg) single nucleotide variant METHYLMALONIC ACIDURIA, mut(0) TYPE [RCV000001961]|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001276633]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000203390]|not provided [RCV000427444] Chr6:49440295 [GRCh38]
Chr6:49408008 [GRCh37]
Chr6:6p12.3
pathogenic|likely pathogenic
NM_000255.4(MMUT):c.2107G>C (p.Gly703Arg) single nucleotide variant METHYLMALONIC ACIDURIA, mut(0) TYPE [RCV000001962] Chr6:49435473 [GRCh38]
Chr6:49403186 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr) single nucleotide variant METHYLMALONIC ACIDURIA, mut(0) TYPE [RCV000001963]|Methylmalonic acidemia [RCV000587363]|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001271716]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000203309]|not provided [RCV000186055] Chr6:49457789 [GRCh38]
Chr6:49425502 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.3(MMUT):c.322C>T single nucleotide variant METHYLMALONIC ACIDURIA, mut(0) TYPE [RCV000001964]|Methylmalonic acidemia [RCV001192656]|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001271723]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000203340] Chr6:49459145 [GRCh38]
Chr6:49426858 [GRCh37]
Chr6:6p12.3
pathogenic|likely pathogenic
NM_000255.4(MMUT):c.643G>A (p.Gly215Ser) single nucleotide variant METHYLMALONIC ACIDURIA, mut(0) TYPE [RCV000001965]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000203381] Chr6:49457801 [GRCh38]
Chr6:49425514 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1445-2A>G single nucleotide variant not provided [RCV000180117] Chr6:49447787 [GRCh38]
Chr6:49415500 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) single nucleotide variant Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001271701]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000203384]|none provided [RCV001283665]|not specified [RCV000078439] Chr6:49447735 [GRCh38]
Chr6:49415448 [GRCh37]
Chr6:6p12.3
pathogenic|likely pathogenic|benign|likely benign
NM_000255.4(MMUT):c.1595G>A (p.Arg532His) single nucleotide variant Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001276636]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000605097]|none provided [RCV001282875]|not provided [RCV000590408]|not specified [RCV000078440] Chr6:49444720 [GRCh38]
Chr6:49412433 [GRCh37]
Chr6:6p12.3
benign|likely benign
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) single nucleotide variant Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001276635]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000527658]|none provided [RCV001282515]|not provided [RCV000859344]|not specified [RCV000078441] Chr6:49444686 [GRCh38]
Chr6:49412399 [GRCh37]
Chr6:6p12.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000255.4(MMUT):c.1849_1851CTT[1] (p.Leu618del) microsatellite Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000210829]|not provided [RCV000078442] Chr6:49440308..49440310 [GRCh38]
Chr6:49408021..49408023 [GRCh37]
Chr6:6p12.3
pathogenic|uncertain significance
NM_000255.4(MMUT):c.1992G>A (p.Ala664=) single nucleotide variant Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001276631]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000203396]|not specified [RCV000078443] Chr6:49435588 [GRCh38]
Chr6:49403301 [GRCh37]
Chr6:6p12.3
benign|likely benign
NM_000255.4(MMUT):c.2011A>G (p.Ile671Val) single nucleotide variant Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001276630]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000612635]|none provided [RCV001281960]|not specified [RCV000078444] Chr6:49435569 [GRCh38]
Chr6:49403282 [GRCh37]
Chr6:6p12.3
benign
NM_000255.4(MMUT):c.385+14G>A single nucleotide variant not provided [RCV000078446] Chr6:49459068 [GRCh38]
Chr6:49426781 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.636G>A (p.Lys212=) single nucleotide variant Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001271718]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000612201]|not specified [RCV000078447] Chr6:49457808 [GRCh38]
Chr6:49425521 [GRCh37]
Chr6:6p12.3
benign
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter) single nucleotide variant Methylmalonic acidemia [RCV000781612]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000175566]|not provided [RCV000078448] Chr6:49459376 [GRCh38]
Chr6:49427089 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1276G>A (p.Gly426Arg) single nucleotide variant none provided [RCV001286063] Chr6:49451522 [GRCh38]
Chr6:49419235 [GRCh37]
Chr6:6p12.3
likely pathogenic
GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1 copy number loss See cases [RCV000138349] Chr6:45681671..54212044 [GRCh38]
Chr6:45649408..54076842 [GRCh37]
Chr6:45757386..54184801 [NCBI36]
Chr6:6p21.1-12.1
pathogenic|uncertain significance
GRCh38/hg38 6p12.3(chr6:49345635-49462709)x0 copy number loss See cases [RCV000138545] Chr6:49345635..49462709 [GRCh38]
Chr6:49313295..49430422 [GRCh37]
Chr6:49421254..49538381 [NCBI36]
Chr6:6p12.3
pathogenic
GRCh38/hg38 6p12.3(chr6:47191779-51427306)x1 copy number loss See cases [RCV000141689] Chr6:47191779..51427306 [GRCh38]
Chr6:47159515..51292104 [GRCh37]
Chr6:47267474..51400063 [NCBI36]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter) single nucleotide variant Methylmalonic acidemia [RCV001193927]|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001271707]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000179277]|not provided [RCV000790701] Chr6:49451591 [GRCh38]
Chr6:49419304 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.753G>C (p.Lys251Asn) single nucleotide variant not provided [RCV000153521] Chr6:49457691 [GRCh38]
Chr6:49425404 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.280G>A (p.Gly94Arg) single nucleotide variant not provided [RCV000175567] Chr6:49459187 [GRCh38]
Chr6:49426900 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.-39-13T>G single nucleotide variant not provided [RCV000162215] Chr6:49459518 [GRCh38]
Chr6:49427231 [GRCh37]
Chr6:6p12.3
not provided
NM_000255.4(MMUT):c.-39-5del deletion not provided [RCV000162216] Chr6:49459510 [GRCh38]
Chr6:49427223 [GRCh37]
Chr6:6p12.3
not provided
NM_000255.4(MMUT):c.-39-3T>A single nucleotide variant not provided [RCV000162217] Chr6:49459508 [GRCh38]
Chr6:49427221 [GRCh37]
Chr6:6p12.3
not provided
NM_000255.4(MMUT):c.-39-3del deletion not provided [RCV000162218] Chr6:49459508 [GRCh38]
Chr6:49427221 [GRCh37]
Chr6:6p12.3
not provided
NM_000255.4(MMUT):c.-39-1_-39insA insertion not provided [RCV000162219] Chr6:49459505..49459506 [GRCh38]
Chr6:49427218..49427219 [GRCh37]
Chr6:6p12.3
not provided
NM_000255.4(MMUT):c.-37C>A single nucleotide variant not provided [RCV000162220] Chr6:49459503 [GRCh38]
Chr6:49427216 [GRCh37]
Chr6:6p12.3
not provided
NM_000255.4(MMUT):c.-35G>T single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000668506]|not provided [RCV000162221] Chr6:49459501 [GRCh38]
Chr6:49427214 [GRCh37]
Chr6:6p12.3
uncertain significance|not provided
NM_000255.4(MMUT):c.-34T>A single nucleotide variant not provided [RCV000162222] Chr6:49459500 [GRCh38]
Chr6:49427213 [GRCh37]
Chr6:6p12.3
not provided
NM_000255.4(MMUT):c.-34_-33insA insertion not provided [RCV000162223] Chr6:49459499..49459500 [GRCh38]
Chr6:49427212..49427213 [GRCh37]
Chr6:6p12.3
not provided
NM_000255.4(MMUT):c.-17T>A single nucleotide variant not provided [RCV000162224] Chr6:49459483 [GRCh38]
Chr6:49427196 [GRCh37]
Chr6:6p12.3
not provided
NM_000255.4(MMUT):c.-13T>A single nucleotide variant not provided [RCV000162225] Chr6:49459479 [GRCh38]
Chr6:49427192 [GRCh37]
Chr6:6p12.3
not provided
NM_000255.4(MMUT):c.-11C>A single nucleotide variant not provided [RCV000162226] Chr6:49459477 [GRCh38]
Chr6:49427190 [GRCh37]
Chr6:6p12.3
not provided
NM_000255.4(MMUT):c.-6T>A single nucleotide variant not provided [RCV000162227] Chr6:49459472 [GRCh38]
Chr6:49427185 [GRCh37]
Chr6:6p12.3
not provided
NM_000255.4(MMUT):c.7del (p.Arg3fs) deletion not provided [RCV000162228] Chr6:49459460 [GRCh38]
Chr6:49427173 [GRCh37]
Chr6:6p12.3
not provided
NM_000255.4(MMUT):c.15G>A (p.Lys5=) single nucleotide variant not provided [RCV000162229] Chr6:49459452 [GRCh38]
Chr6:49427165 [GRCh37]
Chr6:6p12.3
not provided
NM_000255.4(MMUT):c.165C>A (p.Asn55Lys) single nucleotide variant not provided [RCV000162230] Chr6:49459302 [GRCh38]
Chr6:49427015 [GRCh37]
Chr6:6p12.3
not provided
NM_000255.4(MMUT):c.323G>A (p.Arg108His) single nucleotide variant METHYLMALONIC ACIDURIA, mut(0) TYPE [RCV000502227]|Methylmalonic acidemia [RCV000781608]|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001271722]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000664555]|not provided [RCV000162231] Chr6:49459144 [GRCh38]
Chr6:49426857 [GRCh37]
Chr6:6p12.3
pathogenic|not provided
NM_000255.4(MMUT):c.385+9T>C single nucleotide variant not provided [RCV000162232] Chr6:49459073 [GRCh38]
Chr6:49426786 [GRCh37]
Chr6:6p12.3
not provided
NM_000255.4(MMUT):c.385+18_385+19insT insertion not provided [RCV000162233] Chr6:49459063..49459064 [GRCh38]
Chr6:49426776..49426777 [GRCh37]
Chr6:6p12.3
not provided
NM_000255.4(MMUT):c.385+29del deletion not provided [RCV000162234] Chr6:49459053 [GRCh38]
Chr6:49426766 [GRCh37]
Chr6:6p12.3
not provided
NM_000255.4(MMUT):c.385+30A>C single nucleotide variant not provided [RCV000162235] Chr6:49459052 [GRCh38]
Chr6:49426765 [GRCh37]
Chr6:6p12.3
not provided
NM_000255.4(MMUT):c.385+31del deletion not provided [RCV000162236] Chr6:49459051 [GRCh38]
Chr6:49426764 [GRCh37]
Chr6:6p12.3
not provided
NM_000255.4(MMUT):c.385+33A>C single nucleotide variant not provided [RCV000162237] Chr6:49459049 [GRCh38]
Chr6:49426762 [GRCh37]
Chr6:6p12.3
not provided
NM_000255.4(MMUT):c.385+34_385+35insC insertion not provided [RCV000162238] Chr6:49459047..49459048 [GRCh38]
Chr6:49426760..49426761 [GRCh37]
Chr6:6p12.3
not provided
NM_000255.4(MMUT):c.385+43del deletion not provided [RCV000162239] Chr6:49459039 [GRCh38]
Chr6:49426752 [GRCh37]
Chr6:6p12.3
not provided
NM_000255.4(MMUT):c.385+46del deletion not provided [RCV000162240] Chr6:49459036 [GRCh38]
Chr6:49426749 [GRCh37]
Chr6:6p12.3
not provided
NM_000255.4(MMUT):c.711A>G (p.Pro237=) single nucleotide variant Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001271713]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000370879]|not specified [RCV000186043] Chr6:49457733 [GRCh38]
Chr6:49425446 [GRCh37]
Chr6:6p12.3
benign|uncertain significance
NM_000255.4(MMUT):c.890C>T (p.Thr297Ile) single nucleotide variant Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001271801]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000210836] Chr6:49456101 [GRCh38]
Chr6:49423814 [GRCh37]
Chr6:6p12.3
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000255.4(MMUT):c.754C>T (p.His252Tyr) single nucleotide variant not provided [RCV000186063] Chr6:49456237 [GRCh38]
Chr6:49423950 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1360G>A (p.Gly454Arg) single nucleotide variant not provided [RCV000179739] Chr6:49448900 [GRCh38]
Chr6:49416613 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.393G>A (p.Gln131=) single nucleotide variant Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001271804]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001085783]|not provided [RCV000723514]|not specified [RCV000177022] Chr6:49458051 [GRCh38]
Chr6:49425764 [GRCh37]
Chr6:6p12.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000255.4(MMUT):c.982C>T (p.Leu328Phe) single nucleotide variant Methylmalonic acidemia [RCV000589433]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000666436] Chr6:49453686 [GRCh38]
Chr6:49421399 [GRCh37]
Chr6:6p12.3
pathogenic|likely pathogenic
NM_000255.4(MMUT):c.1084-10A>G single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000642162]|not provided [RCV000732448]|not specified [RCV000186045] Chr6:49451724 [GRCh38]
Chr6:49419437 [GRCh37]
Chr6:6p12.3
pathogenic|likely pathogenic|uncertain significance
NM_000255.4(MMUT):c.1106G>A (p.Arg369His) single nucleotide variant Methylmalonic acidemia [RCV001192655]|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001271709]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000203318]|not provided [RCV000186046] Chr6:49451692 [GRCh38]
Chr6:49419405 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1108A>C (p.Thr370Pro) single nucleotide variant not provided [RCV000186047] Chr6:49451690 [GRCh38]
Chr6:49419403 [GRCh37]
Chr6:6p12.3
pathogenic|likely pathogenic
NM_000255.4(MMUT):c.1324G>C (p.Ala442Pro) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000699494]|not provided [RCV001304174] Chr6:49451474 [GRCh38]
Chr6:49419187 [GRCh37]
Chr6:6p12.3
likely pathogenic|uncertain significance
NM_000255.4(MMUT):c.1560+1G>T single nucleotide variant Methylmalonic acidemia [RCV001193326]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000669261] Chr6:49447669 [GRCh38]
Chr6:49415382 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000210837]|not provided [RCV000186050] Chr6:49444652 [GRCh38]
Chr6:49412365 [GRCh37]
Chr6:6p12.3
pathogenic|likely pathogenic
NM_000255.4(MMUT):c.1885A>G (p.Arg629Gly) single nucleotide variant not provided [RCV000186051] Chr6:49440277 [GRCh38]
Chr6:49407990 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.3(MUT):c.2162T>A (p.Val721Glu) single nucleotide variant not provided [RCV000186052] Chr6:49431819 [GRCh38]
Chr6:49399532 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.329A>G (p.Tyr110Cys) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001027998]|not provided [RCV000186053] Chr6:49459138 [GRCh38]
Chr6:49426851 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu) single nucleotide variant Methylmalonic acidemia [RCV000585983]|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001271719]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000203406]|not provided [RCV000186054] Chr6:49457872 [GRCh38]
Chr6:49425585 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.682C>T (p.Arg228Ter) single nucleotide variant Methylmalonic acidemia [RCV001192657]|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001271714]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000666877]|not provided [RCV000186056] Chr6:49457762 [GRCh38]
Chr6:49425475 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.753+2T>A single nucleotide variant Methylmalonic acidemia [RCV000781610]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000672182] Chr6:49457689 [GRCh38]
Chr6:49425402 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.3(MUT):c.826G>T (p.Glu276Ter) single nucleotide variant not provided [RCV000186058] Chr6:49456165 [GRCh38]
Chr6:49423878 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.842T>C (p.Leu281Ser) single nucleotide variant not provided [RCV000186059] Chr6:49456149 [GRCh38]
Chr6:49423862 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1630_1631delinsTA (p.Gly544Ter) indel Methylmalonic acidemia [RCV001290650]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001055323]|not provided [RCV000186061] Chr6:49444684..49444685 [GRCh38]
Chr6:49412397..49412398 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.372_374dup (p.Asp125_Asn126insGlu) duplication not provided [RCV000186062] Chr6:49459092..49459093 [GRCh38]
Chr6:49426805..49426806 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile) single nucleotide variant Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001276751]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001082195]|not provided [RCV000271456] Chr6:49451673 [GRCh38]
Chr6:49419386 [GRCh37]
Chr6:6p12.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 6p12.3(chr6:48682849-49834213)x3 copy number gain See cases [RCV000240085] Chr6:48682849..49834213 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000378555]|not provided [RCV000725410] Chr6:49441930 [GRCh38]
Chr6:49409643 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.19C>T (p.Gln7Ter) single nucleotide variant Methylmalonic acidemia [RCV001293610]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000203322] Chr6:49459448 [GRCh38]
Chr6:49427161 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1595= (p.Arg532=) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000203323] Chr6:49444720 [GRCh38]
Chr6:49412433 [GRCh37]
Chr6:6p12.3
benign
NM_000255.4(MMUT):c.2099T>A (p.Met700Lys) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000203324] Chr6:49435481 [GRCh38]
Chr6:49403194 [GRCh37]
Chr6:6p12.3
pathogenic|likely pathogenic
NM_000255.4(MMUT):c.1553T>C (p.Leu518Pro) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000203325] Chr6:49447677 [GRCh38]
Chr6:49415390 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.299A>G (p.Tyr100Cys) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000203328] Chr6:49459168 [GRCh38]
Chr6:49426881 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.607G>A (p.Gly203Arg) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000203339]|not provided [RCV001091103] Chr6:49457837 [GRCh38]
Chr6:49425550 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp) single nucleotide variant Methylmalonic acidemia [RCV000588430]|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001271706]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000203344]|not provided [RCV000723412] Chr6:49451518 [GRCh38]
Chr6:49419231 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.935G>T (p.Gly312Val) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000203346] Chr6:49453733 [GRCh38]
Chr6:49421446 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.2011= (p.Ile671=) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000203350] Chr6:49435569 [GRCh38]
Chr6:49403282 [GRCh37]
Chr6:6p12.3
benign
NM_000255.4(MMUT):c.636= (p.Lys212=) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000203353] Chr6:49457808 [GRCh38]
Chr6:49425521 [GRCh37]
Chr6:6p12.3
benign
NM_000255.4(MMUT):c.691T>A (p.Tyr231Asn) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000203354] Chr6:49457753 [GRCh38]
Chr6:49425466 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.284C>G (p.Pro95Arg) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000203360] Chr6:49459183 [GRCh38]
Chr6:49426896 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.2054T>G (p.Leu685Arg) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000203365] Chr6:49435526 [GRCh38]
Chr6:49403239 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.521T>C (p.Phe174Ser) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000203368] Chr6:49457923 [GRCh38]
Chr6:49425636 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys) single nucleotide variant Methylmalonic acidemia [RCV001193325]|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001271710]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000203377]|none provided [RCV001286064]|not provided [RCV000414057] Chr6:49451693 [GRCh38]
Chr6:49419406 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1097A>G (p.Asn366Ser) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000203385] Chr6:49451701 [GRCh38]
Chr6:49419414 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp) single nucleotide variant Methylmalonic acidemia [RCV000589534]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000203399] Chr6:49435500 [GRCh38]
Chr6:49403213 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter) single nucleotide variant Methylmalonic acidemia [RCV001193329]|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001276628]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000203410]|not provided [RCV000725155] Chr6:49431802 [GRCh38]
Chr6:49399515 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1032_1034TCT[2] (p.Leu347del) microsatellite Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000210826] Chr6:49453628..49453630 [GRCh38]
Chr6:49421341..49421343 [GRCh37]
Chr6:6p12.3
pathogenic|likely pathogenic
NM_000255.4(MMUT):c.653A>G (p.Gln218Arg) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000210845] Chr6:49457791 [GRCh38]
Chr6:49425504 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1420C>T (p.Arg474Ter) single nucleotide variant Methylmalonic acidemia [RCV001193332]|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001271703]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000670581] Chr6:49448840 [GRCh38]
Chr6:49416553 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.467A>T (p.Asp156Val) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000235227] Chr6:49457977 [GRCh38]
Chr6:49425690 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1677_1747dup (p.Val583Aspfs) duplication Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000235291] Chr6:6p12.3 pathogenic
NM_000255.4(MMUT):c.1333-20_1333-9del deletion Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000235426] Chr6:49448936..49448947 [GRCh38]
Chr6:49416649..49416660 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.610_612GAA[1] (p.Glu205del) microsatellite Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000235437] Chr6:49457829..49457831 [GRCh38]
Chr6:49425542..49425544 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1975C>T (p.Gln659Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000235505] Chr6:49435605 [GRCh38]
Chr6:49403318 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.850G>A (p.Gly284Arg) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000235506] Chr6:49456141 [GRCh38]
Chr6:49423854 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.692dup (p.Tyr231Ter) duplication Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000235526] Chr6:49457751..49457752 [GRCh38]
Chr6:49425464..49425465 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs) indel Methylmalonic acidemia [RCV000780492]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000235587] Chr6:49431784..49431787 [GRCh38]
Chr6:49399497..49399500 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.974G>A (p.Gly325Asp) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000235605] Chr6:49453694 [GRCh38]
Chr6:49421407 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1084-2A>G single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000235702] Chr6:49451716 [GRCh38]
Chr6:49419429 [GRCh37]
Chr6:6p12.3
pathogenic|likely pathogenic
NM_000255.4(MMUT):c.397G>A (p.Gly133Arg) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000235708] Chr6:49458047 [GRCh38]
Chr6:49425760 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.129G>A (p.Trp43Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000235849] Chr6:49459338 [GRCh38]
Chr6:49427051 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.-39-1G>A single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000235867]|not provided [RCV000522555] Chr6:49459506 [GRCh38]
Chr6:49427219 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1271C>T (p.Pro424Leu) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000235906] Chr6:49451527 [GRCh38]
Chr6:49419240 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1489G>T (p.Glu497Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000236003] Chr6:49447741 [GRCh38]
Chr6:49415454 [GRCh37]
Chr6:6p12.3
pathogenic|likely pathogenic
NM_000255.4(MMUT):c.630del (p.Glu211fs) deletion Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000236010] Chr6:49457814 [GRCh38]
Chr6:49425527 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.2078del (p.Gly693fs) deletion Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000236075] Chr6:49435502 [GRCh38]
Chr6:49403215 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1853T>C (p.Leu618Pro) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000236096] Chr6:49440309 [GRCh38]
Chr6:49408022 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.693C>G (p.Tyr231Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000236100] Chr6:49457751 [GRCh38]
Chr6:49425464 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.560C>G (p.Thr187Ser) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000236147] Chr6:49457884 [GRCh38]
Chr6:49425597 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000236154]|not provided [RCV000284154] Chr6:49431781 [GRCh38]
Chr6:49399494 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.977G>A (p.Arg326Lys) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000236170] Chr6:49453691 [GRCh38]
Chr6:49421404 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.55dup (p.Val19fs) duplication Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000236199]|not provided [RCV000790670] Chr6:49459411..49459412 [GRCh38]
Chr6:49427124..49427125 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.851G>A (p.Gly284Glu) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000236310] Chr6:49456140 [GRCh38]
Chr6:49423853 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.2T>C (p.Met1Thr) single nucleotide variant METHYLMALONIC ACIDURIA, mut(0) TYPE [RCV000714689]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000236350] Chr6:49459465 [GRCh38]
Chr6:49427178 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.330T>G (p.Tyr110Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000236434] Chr6:49459137 [GRCh38]
Chr6:49426850 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1277G>A (p.Gly426Glu) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000236497] Chr6:49451521 [GRCh38]
Chr6:49419234 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.566A>T (p.Asn189Ile) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000236505] Chr6:49457878 [GRCh38]
Chr6:49425591 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1164T>A (p.Asn388Lys) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000236522] Chr6:49451634 [GRCh38]
Chr6:49419347 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.415G>A (p.Asp139Asn) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000236526] Chr6:49458029 [GRCh38]
Chr6:49425742 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1655C>T (p.Ala552Val) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000236596] Chr6:49444660 [GRCh38]
Chr6:49412373 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.2193_2196dup (p.Val733fs) duplication Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000236665] Chr6:49431784..49431785 [GRCh38]
Chr6:49399497..49399498 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.828G>C (p.Glu276Asp) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000236687] Chr6:49456163 [GRCh38]
Chr6:49423876 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1874A>G (p.Asp625Gly) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000236801] Chr6:49440288 [GRCh38]
Chr6:49408001 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.689C>G (p.Thr230Arg) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000236822] Chr6:49457755 [GRCh38]
Chr6:49425468 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.927G>A (p.Trp309Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000236897] Chr6:49453741 [GRCh38]
Chr6:49421454 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.88C>T (p.Gln30Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000236911] Chr6:49459379 [GRCh38]
Chr6:49427092 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.30dup (p.Leu11fs) duplication Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000236938] Chr6:49459436..49459437 [GRCh38]
Chr6:49427149..49427150 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1181dup (p.Leu394fs) duplication Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000236977] Chr6:49451616..49451617 [GRCh38]
Chr6:49419329..49419330 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1084-1G>A single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000236997] Chr6:49451715 [GRCh38]
Chr6:49419428 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.378C>A (p.Asn126Lys) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000237003] Chr6:49459089 [GRCh38]
Chr6:49426802 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.781A>G (p.Ile261Val) single nucleotide variant not provided [RCV000224191] Chr6:49456210 [GRCh38]
Chr6:49423923 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.205A>G (p.Ile69Val) single nucleotide variant Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001271806]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001085527]|not provided [RCV000223962] Chr6:49459262 [GRCh38]
Chr6:49426975 [GRCh37]
Chr6:6p12.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000255.4(MMUT):c.1357G>A (p.Gly453Ser) single nucleotide variant not provided [RCV000757495] Chr6:49448903 [GRCh38]
Chr6:49416616 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.567T>G (p.Asn189Lys) single nucleotide variant not specified [RCV000757496] Chr6:49457877 [GRCh38]
Chr6:49425590 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.1889G>C (p.Gly630Ala) single nucleotide variant not specified [RCV000757497] Chr6:49440273 [GRCh38]
Chr6:49407986 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.1115T>C (p.Ile372Thr) single nucleotide variant Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001276752]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000706536]|not provided [RCV000726418] Chr6:49451683 [GRCh38]
Chr6:49419396 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter) single nucleotide variant Methylmalonic acidemia [RCV001193331]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000670351]|not provided [RCV001200471] Chr6:49441907 [GRCh38]
Chr6:49409620 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1022dup (p.Asn341fs) duplication Methylmalonic acidemia [RCV000780494]|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001271711]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000669504] Chr6:49453645..49453646 [GRCh38]
Chr6:49421358..49421359 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1219A>T (p.Asn407Tyr) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000670037] Chr6:49451579 [GRCh38]
Chr6:49419292 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.363G>A (p.Lys121=) single nucleotide variant not specified [RCV000253303] Chr6:49459104 [GRCh38]
Chr6:49426817 [GRCh37]
Chr6:6p12.3
likely benign
NM_000255.4(MMUT):c.*257A>C single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000266966] Chr6:49431471 [GRCh38]
Chr6:49399184 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.-135G>T single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000376385] Chr6:49463198 [GRCh38]
Chr6:49430911 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1614C>T (p.Thr538=) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000670087] Chr6:49444701 [GRCh38]
Chr6:49412414 [GRCh37]
Chr6:6p12.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000255.4(MMUT):c.*580A>G single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000356186] Chr6:49431148 [GRCh38]
Chr6:49398861 [GRCh37]
Chr6:6p12.3
benign|likely benign
NM_000255.4(MMUT):c.*1252T>C single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000349277] Chr6:49430476 [GRCh38]
Chr6:49398189 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1808+15T>C single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000337814]|not specified [RCV000434622] Chr6:49441825 [GRCh38]
Chr6:49409538 [GRCh37]
Chr6:6p12.3
likely benign|uncertain significance
NM_000255.3(MMUT):c.-198A>T single nucleotide variant Methylmalonic acidemia [RCV000341461] Chr6:49463261 [GRCh38]
Chr6:49430974 [GRCh37]
Chr6:6p12.3
benign
NM_000255.4(MMUT):c.1333-8C>T single nucleotide variant Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001276750]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001083197]|not provided [RCV000838307] Chr6:49448935 [GRCh38]
Chr6:49416648 [GRCh37]
Chr6:6p12.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000255.4(MMUT):c.1332+3A>C single nucleotide variant Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001271705]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000765884]|not provided [RCV000488977] Chr6:49451463 [GRCh38]
Chr6:49419176 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.*1326G>A single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000293438] Chr6:49430402 [GRCh38]
Chr6:49398115 [GRCh37]
Chr6:6p12.3
benign
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val) single nucleotide variant Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001276745]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000608254] Chr6:49435589 [GRCh38]
Chr6:49403302 [GRCh37]
Chr6:6p12.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000255.4(MMUT):c.*201del deletion Methylmalonic acidemia [RCV000326766] Chr6:49431527 [GRCh38]
Chr6:49399240 [GRCh37]
Chr6:6p12.3
likely benign
NM_000255.4(MMUT):c.1762C>T (p.Arg588Cys) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000878763] Chr6:49441886 [GRCh38]
Chr6:49409599 [GRCh37]
Chr6:6p12.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000255.4(MMUT):c.*101G>A single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000295864] Chr6:49431627 [GRCh38]
Chr6:49399340 [GRCh37]
Chr6:6p12.3
likely benign|uncertain significance
NM_000255.4(MMUT):c.*278A>G single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000361535] Chr6:49431450 [GRCh38]
Chr6:49399163 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.*126A>G single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000328175] Chr6:49431602 [GRCh38]
Chr6:49399315 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1515T>C (p.Ile505=) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000977438]|not specified [RCV000601351] Chr6:49447715 [GRCh38]
Chr6:49415428 [GRCh37]
Chr6:6p12.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000255.4(MMUT):c.*558A>G single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000266241] Chr6:49431170 [GRCh38]
Chr6:49398883 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.*43G>T single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000350819] Chr6:49431685 [GRCh38]
Chr6:49399398 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.-78C>A single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000319450] Chr6:49463141 [GRCh38]
Chr6:49430854 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.41A>T (p.His14Leu) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000670305] Chr6:49459426 [GRCh38]
Chr6:49427139 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.*162A>C single nucleotide variant Methylmalonic acidemia [RCV000273140] Chr6:49431566 [GRCh38]
Chr6:49399279 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.*1107dup duplication Methylmalonic acidemia [RCV000314181] Chr6:49430620..49430621 [GRCh38]
Chr6:49398333..49398334 [GRCh37]
Chr6:6p12.3
likely benign
NM_000255.4(MMUT):c.461G>A (p.Arg154His) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000525261]|not specified [RCV000279919] Chr6:49457983 [GRCh38]
Chr6:49425696 [GRCh37]
Chr6:6p12.3
benign|likely benign
NM_000255.4(MMUT):c.1599T>A (p.Cys533Ter) single nucleotide variant not provided [RCV000366768] Chr6:49444716 [GRCh38]
Chr6:49412429 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1065_1068dup (p.Ser357fs) duplication not provided [RCV000368702] Chr6:49453599..49453600 [GRCh38]
Chr6:49421312..49421313 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.976A>G (p.Arg326Gly) single nucleotide variant not provided [RCV000489116] Chr6:49453692 [GRCh38]
Chr6:49421405 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.410C>G (p.Ala137Gly) single nucleotide variant not provided [RCV000489243] Chr6:49458034 [GRCh38]
Chr6:49425747 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.917C>A (p.Ser306Tyr) single nucleotide variant not provided [RCV000489403] Chr6:49453751 [GRCh38]
Chr6:49421464 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000666698]|not provided [RCV000489642] Chr6:49440273 [GRCh38]
Chr6:49407986 [GRCh37]
Chr6:6p12.3
pathogenic|likely pathogenic
NM_000255.4(MMUT):c.1079A>G (p.Glu360Gly) single nucleotide variant not provided [RCV000722343] Chr6:49453589 [GRCh38]
Chr6:49421302 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.454C>T (p.Arg152Ter) single nucleotide variant Methylmalonic acidemia [RCV001192658]|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001271720]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000667884]|not provided [RCV000489927] Chr6:49457990 [GRCh38]
Chr6:49425703 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1025C>A (p.Ser342Ter) single nucleotide variant Methylmalonic acidemia [RCV000587657]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000665393] Chr6:49453643 [GRCh38]
Chr6:49421356 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.*200A>T single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000381403] Chr6:49431528 [GRCh38]
Chr6:49399241 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1669C>T (p.Arg557Trp) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000671332] Chr6:49444646 [GRCh38]
Chr6:49412359 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.-155del deletion Methylmalonic acidemia [RCV000284229] Chr6:49463218 [GRCh38]
Chr6:49430931 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.*103A>G single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000387302] Chr6:49431625 [GRCh38]
Chr6:49399338 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.*986G>A single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000336330] Chr6:49430742 [GRCh38]
Chr6:49398455 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.87G>A (p.Gln29=) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000372101] Chr6:49459380 [GRCh38]
Chr6:49427093 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.*1214C>A single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000394579] Chr6:49430514 [GRCh38]
Chr6:49398227 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.*775A>G single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000394649] Chr6:49430953 [GRCh38]
Chr6:49398666 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.*691T>C single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000301525] Chr6:49431037 [GRCh38]
Chr6:49398750 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.*465C>T single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000302164] Chr6:49431263 [GRCh38]
Chr6:49398976 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.431G>A (p.Arg144His) single nucleotide variant not provided [RCV000592345] Chr6:49458013 [GRCh38]
Chr6:49425726 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1084-50A>G single nucleotide variant not specified [RCV000593823] Chr6:49451764 [GRCh38]
Chr6:49419477 [GRCh37]
Chr6:6p12.3
benign
NM_000255.4(MMUT):c.1207C>G (p.Arg403Gly) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000625839] Chr6:49451591 [GRCh38]
Chr6:49419304 [GRCh37]
Chr6:6p12.3
pathogenic|likely pathogenic
NM_000255.4(MMUT):c.566A>G (p.Asn189Ser) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000642163] Chr6:49457878 [GRCh38]
Chr6:49425591 [GRCh37]
Chr6:6p12.3
likely benign|conflicting interpretations of pathogenicity
NM_000255.4(MMUT):c.191C>T (p.Pro64Leu) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000626275] Chr6:49459276 [GRCh38]
Chr6:49426989 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1676+77A>C single nucleotide variant Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001276747]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000642161]|none provided [RCV001283664]|not specified [RCV000591561] Chr6:49444562 [GRCh38]
Chr6:49412275 [GRCh37]
Chr6:6p12.3
benign
NM_000255.4(MMUT):c.833C>T (p.Ala278Val) single nucleotide variant not provided [RCV000722262] Chr6:49456158 [GRCh38]
Chr6:49423871 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.284C>T (p.Pro95Leu) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000415260] Chr6:49459183 [GRCh38]
Chr6:49426896 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.38C>T (p.Pro13Leu) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000414778] Chr6:49459429 [GRCh38]
Chr6:49427142 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.912-1G>A single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001057877]|not provided [RCV000722476] Chr6:49453757 [GRCh38]
Chr6:49421470 [GRCh37]
Chr6:6p12.3
likely pathogenic|uncertain significance
GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)x1 copy number loss See cases [RCV000446897] Chr6:43636308..50947320 [GRCh37]
Chr6:6p21.1-12.3
pathogenic
GRCh37/hg19 6p12.3(chr6:49430382-49479720)x3 copy number gain See cases [RCV000447425] Chr6:49430382..49479720 [GRCh37]
Chr6:6p12.3
conflicting data from submitters
NM_000255.4(MMUT):c.1956+16G>T single nucleotide variant not specified [RCV000438001] Chr6:49440190 [GRCh38]
Chr6:49407903 [GRCh37]
Chr6:6p12.3
likely benign
NM_000255.4(MMUT):c.1944C>A (p.Gly648=) single nucleotide variant not provided [RCV000955177]|not specified [RCV000434655] Chr6:49440218 [GRCh38]
Chr6:49407931 [GRCh37]
Chr6:6p12.3
likely benign
NM_000255.4(MMUT):c.-16G>A single nucleotide variant not specified [RCV000427966] Chr6:49459482 [GRCh38]
Chr6:49427195 [GRCh37]
Chr6:6p12.3
likely benign
NM_000255.4(MMUT):c.1410A>G (p.Glu470=) single nucleotide variant not provided [RCV000940978]|not specified [RCV000435718] Chr6:49448850 [GRCh38]
Chr6:49416563 [GRCh37]
Chr6:6p12.3
likely benign
NM_000255.4(MMUT):c.1083+20T>C single nucleotide variant not specified [RCV000436381] Chr6:49453565 [GRCh38]
Chr6:49421278 [GRCh37]
Chr6:6p12.3
likely benign
NM_000255.4(MMUT):c.2022C>T (p.Leu674=) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001160809]|not specified [RCV000422645] Chr6:49435558 [GRCh38]
Chr6:49403271 [GRCh37]
Chr6:6p12.3
likely benign|uncertain significance
NM_000255.4(MMUT):c.189C>A (p.Thr63=) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000907930]|not specified [RCV000427080] Chr6:49459278 [GRCh38]
Chr6:49426991 [GRCh37]
Chr6:6p12.3
likely benign|conflicting interpretations of pathogenicity
NM_000255.4(MMUT):c.1333-18T>G single nucleotide variant not specified [RCV000434023] Chr6:49448945 [GRCh38]
Chr6:49416658 [GRCh37]
Chr6:6p12.3
likely benign
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_000255.4(MMUT):c.1007del (p.Met336fs) deletion Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000671026]|not provided [RCV000484739] Chr6:49453661 [GRCh38]
Chr6:49421374 [GRCh37]
Chr6:6p12.3
pathogenic|likely pathogenic
NM_000255.4(MMUT):c.312del (p.Trp105fs) deletion Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000668157]|not provided [RCV000478569] Chr6:49459155 [GRCh38]
Chr6:49426868 [GRCh37]
Chr6:6p12.3
pathogenic|likely pathogenic
NM_000255.4(MMUT):c.743A>G (p.Tyr248Cys) single nucleotide variant not provided [RCV000486513] Chr6:49457701 [GRCh38]
Chr6:49425414 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000667041]|not provided [RCV000478937] Chr6:49457801 [GRCh38]
Chr6:49425514 [GRCh37]
Chr6:6p12.3
pathogenic|likely pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_000255.4(MMUT):c.1142G>T (p.Gly381Val) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000578434] Chr6:49451656 [GRCh38]
Chr6:49419369 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.850G>T (p.Gly284Ter) single nucleotide variant Methylmalonic acidemia [RCV000781609]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000669279] Chr6:49456141 [GRCh38]
Chr6:49423854 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1885dup (p.Arg629fs) duplication Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000689404] Chr6:49440276..49440277 [GRCh38]
Chr6:49407989..49407990 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.917C>T (p.Ser306Phe) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000669525] Chr6:49453751 [GRCh38]
Chr6:49421464 [GRCh37]
Chr6:6p12.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000255.4(MMUT):c.394C>T (p.Gln132Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000642160] Chr6:49458050 [GRCh38]
Chr6:49425763 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1084-1G>C single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000642158] Chr6:49451715 [GRCh38]
Chr6:49419428 [GRCh37]
Chr6:6p12.3
likely pathogenic
NC_000006.11:g.(?_49407899)_(49427199_?)dup duplication Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000642164] Chr6:49440186..49459486 [GRCh38]
Chr6:49407899..49427199 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.878A>G (p.Gln293Arg) single nucleotide variant Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001271802]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001159541]|not provided [RCV000514977] Chr6:49456113 [GRCh38]
Chr6:49423826 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.754-7del deletion Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000625155] Chr6:49456244 [GRCh38]
Chr6:49423957 [GRCh37]
Chr6:6p12.3
likely benign
NM_000255.4(MMUT):c.423G>A (p.Ala141=) single nucleotide variant Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001271721]|not specified [RCV000612888] Chr6:49458021 [GRCh38]
Chr6:49425734 [GRCh37]
Chr6:6p12.3
likely benign
NM_000255.4(MMUT):c.1676+10T>C single nucleotide variant not specified [RCV000613027] Chr6:49444629 [GRCh38]
Chr6:49412342 [GRCh37]
Chr6:6p12.3
likely benign
NM_000255.4(MMUT):c.1206T>G (p.Ala402=) single nucleotide variant not specified [RCV000616216] Chr6:49451592 [GRCh38]
Chr6:49419305 [GRCh37]
Chr6:6p12.3
likely benign
NM_000255.4(MMUT):c.1041A>G (p.Leu347=) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000942732]|not specified [RCV000599712] Chr6:49453627 [GRCh38]
Chr6:49421340 [GRCh37]
Chr6:6p12.3
likely benign
NM_000255.4(MMUT):c.836A>G (p.Tyr279Cys) single nucleotide variant Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001271803]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000642159] Chr6:49456155 [GRCh38]
Chr6:49423868 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1679G>A (p.Cys560Tyr) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000670086] Chr6:49441969 [GRCh38]
Chr6:49409682 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.806C>T (p.Ala269Val) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000625791] Chr6:49456185 [GRCh38]
Chr6:49423898 [GRCh37]
Chr6:6p12.3
pathogenic|likely pathogenic
NM_000255.4(MMUT):c.1083+2T>A single nucleotide variant Methylmalonic acidemia [RCV000586630] Chr6:49453583 [GRCh38]
Chr6:49421296 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter) single nucleotide variant Methylmalonic acidemia [RCV000587544]|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001271704]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000664980] Chr6:49448861 [GRCh38]
Chr6:49416574 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000765883]|not provided [RCV000513136] Chr6:49448843 [GRCh38]
Chr6:49416556 [GRCh37]
Chr6:6p12.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000255.4(MMUT):c.1850T>G (p.Leu617Arg) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000673388] Chr6:49440312 [GRCh38]
Chr6:49408025 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1956+2T>C single nucleotide variant Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001276632]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000664805] Chr6:49440204 [GRCh38]
Chr6:49407917 [GRCh37]
Chr6:6p12.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter) single nucleotide variant Methylmalonic acidemia [RCV000781614]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000672079]|not provided [RCV001198994] Chr6:49447699 [GRCh38]
Chr6:49415412 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1677-1G>C single nucleotide variant Methylmalonic acidemia [RCV001269118]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000673042] Chr6:49441972 [GRCh38]
Chr6:49409685 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.385+2T>C single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000673129] Chr6:49459080 [GRCh38]
Chr6:49426793 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.1867G>C (p.Gly623Arg) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000673187] Chr6:49440295 [GRCh38]
Chr6:49408008 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.1844C>G (p.Pro615Arg) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000664979] Chr6:49440318 [GRCh38]
Chr6:49408031 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.671_678dup (p.Val227fs) duplication Methylmalonic acidemia [RCV001293582]|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001271715]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000670315] Chr6:49457765..49457766 [GRCh38]
Chr6:49425478..49425479 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.257C>T (p.Pro86Leu) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000669290] Chr6:49459210 [GRCh38]
Chr6:49426923 [GRCh37]
Chr6:6p12.3
pathogenic|likely pathogenic
NM_000255.4(MMUT):c.1287C>G (p.Tyr429Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000669883] Chr6:49451511 [GRCh38]
Chr6:49419224 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1332+1del deletion Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000670332] Chr6:49451465 [GRCh38]
Chr6:49419178 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1208G>A (p.Arg403Gln) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000665213] Chr6:49451590 [GRCh38]
Chr6:49419303 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.983T>C (p.Leu328Pro) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000668074] Chr6:49453685 [GRCh38]
Chr6:49421398 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.2106del (p.Gly703_Val704insTer) deletion Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000671362] Chr6:49435474 [GRCh38]
Chr6:49403187 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.29dup (p.Leu10fs) duplication Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000668699] Chr6:49459437..49459438 [GRCh38]
Chr6:49427150..49427151 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1148dup (p.Ser384fs) duplication Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000721981] Chr6:49451649..49451650 [GRCh38]
Chr6:49419362..49419363 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.915_920del (p.Leu305_Ser306del) deletion Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000722004] Chr6:49453748..49453753 [GRCh38]
Chr6:49421461..49421466 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1924G>C (p.Gly642Arg) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000666070] Chr6:49440238 [GRCh38]
Chr6:49407951 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.1790T>G (p.Ile597Arg) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000666904] Chr6:49441858 [GRCh38]
Chr6:49409571 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.654A>C (p.Gln218His) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000666245]|not provided [RCV001091102] Chr6:49457790 [GRCh38]
Chr6:49425503 [GRCh37]
Chr6:6p12.3
pathogenic|likely pathogenic
NM_000255.4(MMUT):c.1351G>T (p.Glu451Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000673208] Chr6:49448909 [GRCh38]
Chr6:49416622 [GRCh37]
Chr6:6p12.3
pathogenic|likely pathogenic
NM_000255.4(MMUT):c.277C>T (p.Arg93Cys) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000669202] Chr6:49459190 [GRCh38]
Chr6:49426903 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.2131G>T (p.Glu711Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000669595] Chr6:49431850 [GRCh38]
Chr6:49399563 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs) insertion Methylmalonic acidemia [RCV000780491]|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001271712]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000667278] Chr6:49457714..49457715 [GRCh38]
Chr6:49425427..49425428 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000670934] Chr6:49431775 [GRCh38]
Chr6:49399488 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.556A>G (p.Met186Val) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000666525] Chr6:49457888 [GRCh38]
Chr6:49425601 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1957-2A>G single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000671673] Chr6:49435625 [GRCh38]
Chr6:49403338 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1083+1G>A single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000674323] Chr6:49453584 [GRCh38]
Chr6:49421297 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.260G>A (p.Gly87Glu) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000674559] Chr6:49459207 [GRCh38]
Chr6:49426920 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.754-2A>G single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000667997] Chr6:49456239 [GRCh38]
Chr6:49423952 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.670G>T (p.Glu224Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000668034]|not provided [RCV000760390] Chr6:49457774 [GRCh38]
Chr6:49425487 [GRCh37]
Chr6:6p12.3
pathogenic|likely pathogenic
NM_000255.4(MMUT):c.1677-1G>A single nucleotide variant Methylmalonic acidemia [RCV001193330]|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001276634]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000664627] Chr6:49441972 [GRCh38]
Chr6:49409685 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.669_674dup (p.Phe225_Met226insLeuGlu) duplication Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000672297] Chr6:49457769..49457770 [GRCh38]
Chr6:49425482..49425483 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.421G>A (p.Ala141Thr) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000673850] Chr6:49458023 [GRCh38]
Chr6:49425736 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.360dup (p.Lys121Ter) duplication Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000674054] Chr6:49459106..49459107 [GRCh38]
Chr6:49426819..49426820 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.970G>A (p.Ala324Thr) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000665776] Chr6:49453698 [GRCh38]
Chr6:49421411 [GRCh37]
Chr6:6p12.3
pathogenic|likely pathogenic
NM_000255.4(MMUT):c.2020C>T (p.Leu674Phe) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000707565] Chr6:49435560 [GRCh38]
Chr6:49403273 [GRCh37]
Chr6:6p12.3
likely pathogenic|uncertain significance
NM_000255.4(MMUT):c.1865T>C (p.Met622Thr) single nucleotide variant Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001276746]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000685776] Chr6:49440297 [GRCh38]
Chr6:49408010 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1194_1195TG[1] (p.Val399fs) microsatellite Methylmalonic acidemia [RCV001174604]|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001271708]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000701062] Chr6:49451601..49451602 [GRCh38]
Chr6:49419314..49419315 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1990del (p.Ala664fs) deletion Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000672535] Chr6:49435590 [GRCh38]
Chr6:49403303 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.1092_1114del (p.Asn365fs) deletion Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000672555] Chr6:49451684..49451706 [GRCh38]
Chr6:49419397..49419419 [GRCh37]
Chr6:6p12.3
pathogenic|likely pathogenic
NM_000255.4(MMUT):c.1156C>A (p.His386Asn) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000674976] Chr6:49451642 [GRCh38]
Chr6:49419355 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1777G>T (p.Glu593Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000674579] Chr6:49441871 [GRCh38]
Chr6:49409584 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.1946del (p.Pro649fs) deletion Methylmalonic acidemia [RCV001199896]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000672834] Chr6:49440216 [GRCh38]
Chr6:49407929 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.914T>C (p.Leu305Ser) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000672926] Chr6:49453754 [GRCh38]
Chr6:49421467 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.385+5G>A single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000675042] Chr6:49459077 [GRCh38]
Chr6:49426790 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000666577] Chr6:49440316 [GRCh38]
Chr6:49408029 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter) single nucleotide variant Methylmalonic acidemia [RCV001193327]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000666288] Chr6:49447749 [GRCh38]
Chr6:49415462 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1880A>G (p.His627Arg) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000666980] Chr6:49440282 [GRCh38]
Chr6:49407995 [GRCh37]
Chr6:6p12.3
pathogenic|likely pathogenic
NM_000255.4(MMUT):c.1962_1963del (p.Pro654_Arg655insTer) deletion Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000667361] Chr6:49435617..49435618 [GRCh38]
Chr6:49403330..49403331 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.2197G>A (p.Val733Ile) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000667833] Chr6:49431784 [GRCh38]
Chr6:49399497 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.656A>G (p.Asn219Ser) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000688008] Chr6:49457788 [GRCh38]
Chr6:49425501 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000696572] Chr6:49435554 [GRCh38]
Chr6:49403267 [GRCh37]
Chr6:6p12.3
pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p12.3(chr6:49420560-49446434)x3 copy number gain not provided [RCV000745701] Chr6:49420560..49446434 [GRCh37]
Chr6:6p12.3
benign
GRCh37/hg19 6p12.3(chr6:49420560-49446509)x3 copy number gain not provided [RCV000745702] Chr6:49420560..49446509 [GRCh37]
Chr6:6p12.3
benign
GRCh37/hg19 6p12.3(chr6:49423876-49445866)x3 copy number gain not provided [RCV000745703] Chr6:49423876..49445866 [GRCh37]
Chr6:6p12.3
benign
GRCh37/hg19 6p12.3(chr6:49423876-49446509)x3 copy number gain not provided [RCV000745704] Chr6:49423876..49446509 [GRCh37]
Chr6:6p12.3
benign
GRCh37/hg19 6p12.3(chr6:49425521-49446434)x3 copy number gain not provided [RCV000745705] Chr6:49425521..49446434 [GRCh37]
Chr6:6p12.3
benign
GRCh37/hg19 6p12.3(chr6:49430319-49446509)x3 copy number gain not provided [RCV000745706] Chr6:49430319..49446509 [GRCh37]
Chr6:6p12.3
benign
GRCh37/hg19 6p12.3(chr6:49430319-49485266)x3 copy number gain not provided [RCV000745707] Chr6:49430319..49485266 [GRCh37]
Chr6:6p12.3
benign
GRCh37/hg19 6p12.3(chr6:49430974-49446509)x3 copy number gain not provided [RCV000745708] Chr6:49430974..49446509 [GRCh37]
Chr6:6p12.3
benign
NM_000255.4(MMUT):c.1494C>T (p.Asp498=) single nucleotide variant Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001276748]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000940737] Chr6:49447736 [GRCh38]
Chr6:49415449 [GRCh37]
Chr6:6p12.3
likely benign|uncertain significance
NM_000255.4(MMUT):c.651C>A (p.Ile217=) single nucleotide variant Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001271717]|not provided [RCV000980344] Chr6:49457793 [GRCh38]
Chr6:49425506 [GRCh37]
Chr6:6p12.3
likely benign
NM_000255.4(MMUT):c.507T>C (p.Asp169=) single nucleotide variant not provided [RCV000943738] Chr6:49457937 [GRCh38]
Chr6:49425650 [GRCh37]
Chr6:6p12.3
likely benign
NM_000255.4(MMUT):c.1650T>C (p.Ala550=) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000906761] Chr6:49444665 [GRCh38]
Chr6:49412378 [GRCh37]
Chr6:6p12.3
likely benign
NM_000255.4(MMUT):c.446A>T (p.Asp149Val) single nucleotide variant not provided [RCV000756366] Chr6:49457998 [GRCh38]
Chr6:49425711 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1992G>C (p.Ala664=) single nucleotide variant not provided [RCV000982596] Chr6:49435588 [GRCh38]
Chr6:49403301 [GRCh37]
Chr6:6p12.3
likely benign
NM_000255.4(MMUT):c.2196C>T (p.Ala732=) single nucleotide variant Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001276743]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000893490] Chr6:49431785 [GRCh38]
Chr6:49399498 [GRCh37]
Chr6:6p12.3
benign|uncertain significance
NM_000255.4(MMUT):c.754-4G>T single nucleotide variant not provided [RCV000945707] Chr6:49456241 [GRCh38]
Chr6:49423954 [GRCh37]
Chr6:6p12.3
likely benign
NM_000255.4(MMUT):c.1476C>T (p.Tyr492=) single nucleotide variant Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001276749]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000949299] Chr6:49447754 [GRCh38]
Chr6:49415467 [GRCh37]
Chr6:6p12.3
likely benign|uncertain significance
NM_000255.4(MMUT):c.1040T>G (p.Leu347Arg) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000995811] Chr6:49453628 [GRCh38]
Chr6:49421341 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1441del (p.Ser481fs) deletion Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001070115] Chr6:49448819 [GRCh38]
Chr6:49416532 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.2125-2A>G single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000779511] Chr6:49431858 [GRCh38]
Chr6:49399571 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.753+1G>A single nucleotide variant Methylmalonic acidemia [RCV000781611] Chr6:49457690 [GRCh38]
Chr6:49425403 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.744T>C (p.Tyr248=) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000944848] Chr6:49457700 [GRCh38]
Chr6:49425413 [GRCh37]
Chr6:6p12.3
likely benign
NM_000255.4(MMUT):c.1539G>A (p.Arg513=) single nucleotide variant not provided [RCV000931579] Chr6:49447691 [GRCh38]
Chr6:49415404 [GRCh37]
Chr6:6p12.3
likely benign
NM_000255.4(MMUT):c.2250A>T (p.Val750=) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000940385] Chr6:49431731 [GRCh38]
Chr6:49399444 [GRCh37]
Chr6:6p12.3
likely benign
NM_000255.4(MMUT):c.277C>A (p.Arg93Ser) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001029829] Chr6:49459190 [GRCh38]
Chr6:49426903 [GRCh37]
Chr6:6p12.3
likely pathogenic
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1
pathogenic
NM_000255.4(MMUT):c.1429G>A (p.Ala477Thr) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000809765] Chr6:49448831 [GRCh38]
Chr6:49416544 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1421G>A (p.Arg474Gln) single nucleotide variant Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001271702]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000801015] Chr6:49448839 [GRCh38]
Chr6:49416552 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1777G>C (p.Glu593Gln) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000806421] Chr6:49441871 [GRCh38]
Chr6:49409584 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.281G>T (p.Gly94Val) single nucleotide variant Methylmalonic acidemia [RCV001264490]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000814597]|not provided [RCV001091104] Chr6:49459186 [GRCh38]
Chr6:49426899 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1011T>A (p.Phe337Leu) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000987711] Chr6:49453657 [GRCh38]
Chr6:49421370 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1333-185A>G single nucleotide variant not provided [RCV000833353] Chr6:49449112 [GRCh38]
Chr6:49416825 [GRCh37]
Chr6:6p12.3
benign
NM_000255.4(MMUT):c.2082G>A (p.Arg694=) single nucleotide variant Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001276744]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000937862] Chr6:49435498 [GRCh38]
Chr6:49403211 [GRCh37]
Chr6:6p12.3
likely benign|uncertain significance
NM_000255.4(MMUT):c.622del (p.Val208fs) deletion Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000793811] Chr6:49457822 [GRCh38]
Chr6:49425535 [GRCh37]
Chr6:6p12.3
pathogenic
NC_000006.12:g.(?_49456070)_(49456247_?)del deletion Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000794829] Chr6:49456070..49456247 [GRCh38]
Chr6:49423783..49423960 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1677-164A>T single nucleotide variant not provided [RCV000833354] Chr6:49442135 [GRCh38]
Chr6:49409848 [GRCh37]
Chr6:6p12.3
benign
NM_000255.4(MMUT):c.-39-191A>G single nucleotide variant not provided [RCV000830728] Chr6:49459696 [GRCh38]
Chr6:49427409 [GRCh37]
Chr6:6p12.3
benign
NM_000255.4(MMUT):c.947A>G (p.Tyr316Cys) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000793518] Chr6:49453721 [GRCh38]
Chr6:49421434 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1355T>A (p.Met452Lys) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000803802] Chr6:49448905 [GRCh38]
Chr6:49416618 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.694_700delinsCTTTTTT (p.Ile232_Pro234delinsLeuPheSer) indel Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000822895] Chr6:49457744..49457750 [GRCh38]
Chr6:49425457..49425463 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.292A>C (p.Thr98Pro) single nucleotide variant not provided [RCV000817397] Chr6:49459175 [GRCh38]
Chr6:49426888 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.395A>T (p.Gln132Leu) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000791648]|not provided [RCV001297506] Chr6:49458049 [GRCh38]
Chr6:49425762 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1315T>G (p.Tyr439Asp) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000987710] Chr6:49451483 [GRCh38]
Chr6:49419196 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.*445A>G single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001164363] Chr6:49431283 [GRCh38]
Chr6:49398996 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.386-247C>T single nucleotide variant not provided [RCV000830729] Chr6:49458305 [GRCh38]
Chr6:49426018 [GRCh37]
Chr6:6p12.3
benign
NM_000255.4(MMUT):c.*636T>A single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001164360] Chr6:49431092 [GRCh38]
Chr6:49398805 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.*627C>T single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001164361] Chr6:49431101 [GRCh38]
Chr6:49398814 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.*281G>A single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001164364] Chr6:49431447 [GRCh38]
Chr6:49399160 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.911+246C>G single nucleotide variant not provided [RCV000830731] Chr6:49455834 [GRCh38]
Chr6:49423547 [GRCh37]
Chr6:6p12.3
benign
NC_000006.12:g.49448935G>A single nucleotide variant not provided [RCV000838307] Chr6:49416648 [GRCh37]
Chr6:6p12.3
likely benign
NM_000255.4(MMUT):c.2125-3C>G single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000813589] Chr6:49431859 [GRCh38]
Chr6:49399572 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1993G>A (p.Asp665Asn) single nucleotide variant not provided [RCV001067314] Chr6:49435587 [GRCh38]
Chr6:49403300 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.406G>A (p.Val136Ile) single nucleotide variant not provided [RCV001045395] Chr6:49458038 [GRCh38]
Chr6:49425751 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1877_1889del (p.Gly626fs) deletion Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001043253] Chr6:49440273..49440285 [GRCh38]
Chr6:49407986..49407998 [GRCh37]
Chr6:6p12.3
pathogenic
GRCh37/hg19 6p12.3(chr6:48617762-49836065)x3 copy number gain not provided [RCV000849078] Chr6:48617762..49836065 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1519A>G (p.Asn507Asp) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001162427] Chr6:49447711 [GRCh38]
Chr6:49415424 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.421del (p.Ala141fs) deletion Methylmalonic acidemia [RCV001193328] Chr6:49458023 [GRCh38]
Chr6:49425736 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1328dup (p.Leu443fs) duplication Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001202847] Chr6:49451469..49451470 [GRCh38]
Chr6:49419182..49419183 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.811del (p.Ala271fs) deletion Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001240258] Chr6:49456180 [GRCh38]
Chr6:49423893 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.854dup (p.Leu285fs) duplication Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001225829] Chr6:49456136..49456137 [GRCh38]
Chr6:49423849..49423850 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1809-2A>T single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001214279] Chr6:49440355 [GRCh38]
Chr6:49408068 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.1760A>C (p.Tyr587Ser) single nucleotide variant not provided [RCV001217907] Chr6:49441888 [GRCh38]
Chr6:49409601 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1943G>A (p.Gly648Asp) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001225408] Chr6:49440219 [GRCh38]
Chr6:49407932 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.755dup (p.His252fs) duplication Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001218711] Chr6:49456235..49456236 [GRCh38]
Chr6:49423948..49423949 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.2114T>G (p.Ile705Arg) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000853349] Chr6:49435466 [GRCh38]
Chr6:49403179 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.1218del (p.Asn407fs) deletion Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001250096] Chr6:49451580 [GRCh38]
Chr6:49419293 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.109C>T (p.Gln37Ter) single nucleotide variant not provided [RCV001091105] Chr6:49459358 [GRCh38]
Chr6:49427071 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1091A>C (p.Tyr364Ser) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001159540] Chr6:49451707 [GRCh38]
Chr6:49419420 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.876C>G (p.Leu292=) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001159542] Chr6:49456115 [GRCh38]
Chr6:49423828 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1501G>C (p.Glu501Gln) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001247785] Chr6:49447729 [GRCh38]
Chr6:49415442 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1957-9A>T single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000908986] Chr6:49435632 [GRCh38]
Chr6:49403345 [GRCh37]
Chr6:6p12.3
likely benign
NM_000255.4(MMUT):c.1002G>A (p.Glu334=) single nucleotide variant not provided [RCV000908530] Chr6:49453666 [GRCh38]
Chr6:49421379 [GRCh37]
Chr6:6p12.3
likely benign
NM_000255.4(MMUT):c.330T>C (p.Tyr110=) single nucleotide variant not provided [RCV000929856] Chr6:49459137 [GRCh38]
Chr6:49426850 [GRCh37]
Chr6:6p12.3
likely benign
NM_000255.4(MMUT):c.1512A>G (p.Ala504=) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000941965] Chr6:49447718 [GRCh38]
Chr6:49415431 [GRCh37]
Chr6:6p12.3
likely benign
NM_000255.4(MMUT):c.285A>G (p.Pro95=) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000929164] Chr6:49459182 [GRCh38]
Chr6:49426895 [GRCh37]
Chr6:6p12.3
likely benign
NM_000255.4(MMUT):c.61G>T (p.Glu21Ter) single nucleotide variant not provided [RCV001198995] Chr6:49459406 [GRCh38]
Chr6:49427119 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.241T>A (p.Leu81Ile) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001242705] Chr6:49459226 [GRCh38]
Chr6:49426939 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.*1044T>A single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001162331] Chr6:49430684 [GRCh38]
Chr6:49398397 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.846A>G (p.Ala282=) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001159543] Chr6:49456145 [GRCh38]
Chr6:49423858 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.53A>G (p.Gln18Arg) single nucleotide variant not provided [RCV001243259] Chr6:49459414 [GRCh38]
Chr6:49427127 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1400G>A (p.Arg467Gln) single nucleotide variant not provided [RCV001239758] Chr6:49448860 [GRCh38]
Chr6:49416573 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1532G>A (p.Arg511Gln) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001245115] Chr6:49447698 [GRCh38]
Chr6:49415411 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1659G>A (p.Val553=) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001243608] Chr6:49444656 [GRCh38]
Chr6:49412369 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1809G>T (p.Arg603Ser) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001160811] Chr6:49440353 [GRCh38]
Chr6:49408066 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.598A>G (p.Ile200Val) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001160920]|not provided [RCV001325844] Chr6:49457846 [GRCh38]
Chr6:49425559 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.572C>T (p.Ala191Val) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001160921] Chr6:49457872 [GRCh38]
Chr6:49425585 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.499G>A (p.Val167Met) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001160922] Chr6:49457945 [GRCh38]
Chr6:49425658 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.168A>G (p.Pro56=) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001160923] Chr6:49459299 [GRCh38]
Chr6:49427012 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1444+1del deletion not provided [RCV001090596] Chr6:49448815 [GRCh38]
Chr6:49416528 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1261G>A (p.Val421Met) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001243990] Chr6:49451537 [GRCh38]
Chr6:49419250 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.959C>T (p.Ala320Val) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000987712] Chr6:49453709 [GRCh38]
Chr6:49421422 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.321C>T (p.Ile107=) single nucleotide variant Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001271805]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000890896] Chr6:49459146 [GRCh38]
Chr6:49426859 [GRCh37]
Chr6:6p12.3
likely benign
NM_000255.4(MMUT):c.1630G>A (p.Gly544Arg) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001162426] Chr6:49444685 [GRCh38]
Chr6:49412398 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.*1182T>C single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001162330] Chr6:49430546 [GRCh38]
Chr6:49398259 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.-47G>A single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001162530] Chr6:49463110 [GRCh38]
Chr6:49430823 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1963C>T (p.Arg655Cys) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001160810]|Peroxisome biogenesis disorder 8A [RCV001250072] Chr6:49435617 [GRCh38]
Chr6:49403330 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.*34A>G single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001159435] Chr6:49431694 [GRCh38]
Chr6:49399407 [GRCh37]
Chr6:6p12.3
likely benign
NC_000006.12:g.(?_49447660)_(49459506_?)del deletion Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001033616] Chr6:49415373..49427219 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.-79G>A single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001162531] Chr6:49463142 [GRCh38]
Chr6:49430855 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1874A>C (p.Asp625Ala) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001169874] Chr6:49440288 [GRCh38]
Chr6:49408001 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.911G>A (p.Arg304Lys) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001061158] Chr6:49456080 [GRCh38]
Chr6:49423793 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.*1184T>C single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001162329] Chr6:49430544 [GRCh38]
Chr6:49398257 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.296T>C (p.Met99Thr) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001203221] Chr6:49459171 [GRCh38]
Chr6:49426884 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.455G>T (p.Arg152Leu) single nucleotide variant not provided [RCV001236045] Chr6:49457989 [GRCh38]
Chr6:49425702 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.*466G>A single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001164362] Chr6:49431262 [GRCh38]
Chr6:49398975 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1763G>T (p.Arg588Leu) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001206094] Chr6:49441885 [GRCh38]
Chr6:49409598 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.322del (p.Arg108fs) deletion Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001037680] Chr6:49459145 [GRCh38]
Chr6:49426858 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.422C>T (p.Ala141Val) single nucleotide variant not provided [RCV001211091] Chr6:49458022 [GRCh38]
Chr6:49425735 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1765C>T (p.Gln589Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001048462] Chr6:49441883 [GRCh38]
Chr6:49409596 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.2196_2197insCGGCA (p.Val733fs) insertion Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001231781] Chr6:49431784..49431785 [GRCh38]
Chr6:49399497..49399498 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.188C>T (p.Thr63Ile) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001250103] Chr6:49459279 [GRCh38]
Chr6:49426992 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1465G>A (p.Val489Ile) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001164468] Chr6:49447765 [GRCh38]
Chr6:49415478 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1957-899A>G single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001055847] Chr6:49436522 [GRCh38]
Chr6:49404235 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.*1319C>T single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001160709] Chr6:49430409 [GRCh38]
Chr6:49398122 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.514del (p.Ile172fs) deletion Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001070729] Chr6:49457930 [GRCh38]
Chr6:49425643 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.652C>G (p.Gln218Glu) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001257409] Chr6:49457792 [GRCh38]
Chr6:49425505 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.1102del (p.Val368fs) deletion Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001257411] Chr6:49451696 [GRCh38]
Chr6:49419409 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.1330A>T (p.Lys444Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001257414] Chr6:49451468 [GRCh38]
Chr6:49419181 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.1870C>T (p.Gln624Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001263781] Chr6:49440292 [GRCh38]
Chr6:49408005 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.1761T>A (p.Tyr587Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001263782] Chr6:49441887 [GRCh38]
Chr6:49409600 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.1564A>T (p.Lys522Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001264152] Chr6:49444751 [GRCh38]
Chr6:49412464 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.1198A>T (p.Lys400Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001264156] Chr6:49451600 [GRCh38]
Chr6:49419313 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.995T>G (p.Leu332Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001264157] Chr6:49453673 [GRCh38]
Chr6:49421386 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.706G>T (p.Glu236Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001264281] Chr6:49457738 [GRCh38]
Chr6:49425451 [GRCh37]
Chr6:6p12.3
likely pathogenic
GRCh37/hg19 6p12.3(chr6:48566675-50063411)x1 copy number loss not provided [RCV001258724] Chr6:48566675..50063411 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.2087A>C (p.Asp696Ala) single nucleotide variant not provided [RCV001295239] Chr6:49435493 [GRCh38]
Chr6:49403206 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1673C>T (p.Ala558Val) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001257418] Chr6:49444642 [GRCh38]
Chr6:49412355 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.1787del (p.Glu596fs) deletion Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001257420] Chr6:49441861 [GRCh38]
Chr6:49409574 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.-39-2A>G single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001257405] Chr6:49459507 [GRCh38]
Chr6:49427220 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.422C>A (p.Ala141Glu) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001257407] Chr6:49458022 [GRCh38]
Chr6:49425735 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.446dup (p.Asp149fs) duplication Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001257408] Chr6:49457997..49457998 [GRCh38]
Chr6:49425710..49425711 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.1560+2T>C single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001257415] Chr6:49447668 [GRCh38]
Chr6:49415381 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.1581dup (p.Ala528fs) duplication Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001257416] Chr6:49444733..49444734 [GRCh38]
Chr6:49412446..49412447 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.1645del (p.Leu549fs) deletion Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001257417] Chr6:49444670 [GRCh38]
Chr6:49412383 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.893T>A (p.Ile298Asn) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001257410] Chr6:49456098 [GRCh38]
Chr6:49423811 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.1107dup (p.Thr370fs) duplication Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001257412] Chr6:49451690..49451691 [GRCh38]
Chr6:49419403..49419404 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.1369A>T (p.Lys457Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001264153] Chr6:49448891 [GRCh38]
Chr6:49416604 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.1287C>A (p.Tyr429Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001264155] Chr6:49451511 [GRCh38]
Chr6:49419224 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.934G>T (p.Gly312Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001264159] Chr6:49453734 [GRCh38]
Chr6:49421447 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.810_811delinsA (p.Ala271fs) indel Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001261627] Chr6:49456180..49456181 [GRCh38]
Chr6:49423893..49423894 [GRCh37]
Chr6:6p12.3
pathogenic
GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1 copy number loss See cases [RCV001263045] Chr6:48626041..55575545 [GRCh37]
Chr6:6p12.3-12.1
likely pathogenic
NM_000255.4(MMUT):c.1499T>C (p.Val500Ala) single nucleotide variant Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency [RCV001280382] Chr6:49447731 [GRCh38]
Chr6:49415444 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.987G>A (p.Trp329Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001264158] Chr6:49453681 [GRCh38]
Chr6:49421394 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.842T>A (p.Leu281Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001264279] Chr6:49456149 [GRCh38]
Chr6:49423862 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.787G>T (p.Gly263Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001264280] Chr6:49456204 [GRCh38]
Chr6:49423917 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.401T>A (p.Leu134Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001264282] Chr6:49458043 [GRCh38]
Chr6:49425756 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.397G>T (p.Gly133Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001264283] Chr6:49458047 [GRCh38]
Chr6:49425760 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.1348G>T (p.Glu450Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001264154] Chr6:49448912 [GRCh38]
Chr6:49416625 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.7A>T (p.Arg3Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001257406] Chr6:49459460 [GRCh38]
Chr6:49427173 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.1230CAT[1] (p.Ile412del) microsatellite Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001257413] Chr6:49451563..49451565 [GRCh38]
Chr6:49419276..49419278 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.1678T>C (p.Cys560Arg) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001257419] Chr6:49441970 [GRCh38]
Chr6:49409683 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.1445-1G>C single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001261626] Chr6:49447786 [GRCh38]
Chr6:49415499 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.570A>C (p.Gly190=) single nucleotide variant not provided [RCV001311718] Chr6:49457874 [GRCh38]
Chr6:49425587 [GRCh37]
Chr6:6p12.3
likely benign
NM_000255.4(MMUT):c.1243G>T (p.Glu415Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001280916] Chr6:49451555 [GRCh38]
Chr6:49419268 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.2084C>T (p.Pro695Leu) single nucleotide variant not provided [RCV001342081] Chr6:49435496 [GRCh38]
Chr6:49403209 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.700C>T (p.Pro234Ser) single nucleotide variant not provided [RCV001318496] Chr6:49457744 [GRCh38]
Chr6:49425457 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.854T>C (p.Leu285Ser) single nucleotide variant not provided [RCV001340690] Chr6:49456137 [GRCh38]
Chr6:49423850 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.438T>A (p.Tyr146Ter) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001327988] Chr6:49458006 [GRCh38]
Chr6:49425719 [GRCh37]
Chr6:6p12.3
pathogenic
NM_000255.4(MMUT):c.1008G>A (p.Met336Ile) single nucleotide variant not provided [RCV001315306] Chr6:49453660 [GRCh38]
Chr6:49421373 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.235A>G (p.Met79Val) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001329131] Chr6:49459232 [GRCh38]
Chr6:49426945 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.227G>A (p.Arg76Lys) single nucleotide variant not provided [RCV001315666] Chr6:49459240 [GRCh38]
Chr6:49426953 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.161A>G (p.Lys54Arg) single nucleotide variant not provided [RCV001298109] Chr6:49459306 [GRCh38]
Chr6:49427019 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.785G>T (p.Ser262Ile) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001283794] Chr6:49456206 [GRCh38]
Chr6:49423919 [GRCh37]
Chr6:6p12.3
likely pathogenic
NM_000255.4(MMUT):c.1415C>G (p.Ala472Gly) single nucleotide variant not provided [RCV001298292] Chr6:49448845 [GRCh38]
Chr6:49416558 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1031C>G (p.Ser344Cys) single nucleotide variant not provided [RCV001299502] Chr6:49453637 [GRCh38]
Chr6:49421350 [GRCh37]
Chr6:6p12.3
uncertain significance
NM_000255.4(MMUT):c.1435A>G (p.Ile479Val) single nucleotide variant Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV001329130] Chr6:49448825 [GRCh38]
Chr6:49416538 [GRCh37]
Chr6:6p12.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7526 AgrOrtholog
COSMIC MMUT COSMIC
Ensembl Genes ENSG00000146085 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000274813 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000274813 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000146085 GTEx
HGNC ID HGNC:7526 ENTREZGENE
Human Proteome Map MMUT Human Proteome Map
InterPro Acid_CoA_mut_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cbl-dep_enz_cat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cobalamin-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cobalamin-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MeMalonylCoA_mutase_a/b_cat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MMCoA_mutase_a_cat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4594 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4594 ENTREZGENE
OMIM 251000 OMIM
  609058 OMIM
Pfam B12-binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MM_CoA_mutase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31327 PharmGKB
PROSITE B12_BINDING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  METMALONYL_COA_MUTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51703 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52242 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs acid_CoA_mut_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  acid_CoA_mut_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RD82 ENTREZGENE, UniProtKB/TrEMBL
  B2R6K1 ENTREZGENE, UniProtKB/TrEMBL
  MUTA_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8K953 UniProtKB/Swiss-Prot
  Q5SYZ3 UniProtKB/Swiss-Prot
  Q96B11 UniProtKB/Swiss-Prot
  Q9UD64 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-10-23 MMUT  methylmalonyl-CoA mutase  MUT    Symbol and/or name change 5135510 APPROVED
2015-11-17 MUT  methylmalonyl-CoA mutase    methylmalonyl CoA mutase  Symbol and/or name change 5135510 APPROVED
2011-08-16 MUT  methylmalonyl CoA mutase  MUT  methylmalonyl CoA mutase  Symbol and/or name change 5135510 APPROVED
2011-07-27 MUT  methylmalonyl CoA mutase  MUT  methylmalonyl Coenzyme A mutase  Symbol and/or name change 5135510 APPROVED