MCCC2 (methylcrotonyl-CoA carboxylase subunit 2) - Rat Genome Database

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Pathways
Gene: MCCC2 (methylcrotonyl-CoA carboxylase subunit 2) Homo sapiens
Analyze
Symbol: MCCC2
Name: methylcrotonyl-CoA carboxylase subunit 2
RGD ID: 1352586
HGNC Page HGNC:6937
Description: Contributes to methylcrotonoyl-CoA carboxylase activity. Predicted to be involved in leucine catabolic process. Located in 3-methylcrotonyl-CoA carboxylase complex, mitochondrial and mitochondrial matrix. Part of methylcrotonoyl-CoA carboxylase complex. Implicated in 3-Methylcrotonyl-CoA carboxylase 2 deficiency and mitochondrial metabolism disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 3-methylcrotonyl-CoA carboxylase 2; 3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit; 3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta; biotin carboxylase; MCCase subunit beta; MCCB; MCCCbeta; methylcrotonoyl-CoA carboxylase 2; methylcrotonoyl-CoA carboxylase 2 (beta); methylcrotonoyl-CoA carboxylase beta chain, mitochondrial; methylcrotonoyl-Coenzyme A carboxylase 2 (beta); non-biotin containing subunit of 3-methylcrotonyl-CoA carboxylase; testicular secretory protein Li 29
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
GRCh38571,587,340 - 71,658,706 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl571,579,531 - 71,658,706 (+)EnsemblGRCh38hg38GRCh38
GRCh37570,883,167 - 70,954,533 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36570,918,910 - 70,988,981 (+)NCBINCBI36Build 36hg18NCBI36
Build 34570,918,909 - 70,988,981NCBI
Celera566,778,848 - 66,850,229 (+)NCBICelera
Cytogenetic Map5q13.2NCBI
HuRef566,088,903 - 66,160,527 (+)NCBIHuRef
CHM1_1570,315,816 - 70,387,189 (+)NCBICHM1_1
T2T-CHM13v2.0572,068,680 - 72,140,018 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-dexrazoxane  (ISO)
(+)-schisandrin B  (ISO)
(-)-demecolcine  (EXP)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrabromodibenzodioxine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
5-fluorouracil  (EXP)
acetamide  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
cadmium atom  (ISO)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
clopidogrel  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
cyclosporin A  (EXP,ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diuron  (ISO)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
genistein  (ISO)
glafenine  (ISO)
irinotecan  (EXP)
isoprenaline  (ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
lead(0)  (EXP)
lipopolysaccharide  (ISO)
methapyrilene  (ISO)
methyl methanesulfonate  (EXP)
methylparaben  (EXP)
methylseleninic acid  (EXP)
N-nitrosomorpholine  (ISO)
nimesulide  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
phlorizin  (ISO)
pirinixic acid  (EXP,ISO)
propiconazole  (ISO)
resveratrol  (EXP)
rotenone  (ISO)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
sunitinib  (EXP)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
trichloroethene  (ISO)
troglitazone  (ISO)
tungsten  (ISO)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
vincristine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. Gallardo ME, etal., Am J Hum Genet. 2001 Feb;68(2):334-46. Epub 2001 Jan 17.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:11181649   PMID:11401427   PMID:11406611   PMID:12477932   PMID:14702039   PMID:15146197   PMID:15489334   PMID:16010683   PMID:16023992   PMID:17360195   PMID:17876819   PMID:17968484  
PMID:18457437   PMID:19380743   PMID:19759019   PMID:19851296   PMID:20186120   PMID:20198315   PMID:20811636   PMID:20877624   PMID:21071250   PMID:21145461   PMID:21532586   PMID:21642987  
PMID:21873635   PMID:22150417   PMID:22264772   PMID:22869039   PMID:22939629   PMID:23752268   PMID:23798571   PMID:24244333   PMID:24344204   PMID:24755837   PMID:24981860   PMID:25071155  
PMID:25147182   PMID:25382614   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26465331   PMID:26687479   PMID:26725010   PMID:26752685   PMID:26871637   PMID:26972000   PMID:27025967  
PMID:27342126   PMID:27499296   PMID:27601257   PMID:27684187   PMID:28514442   PMID:28515276   PMID:28611215   PMID:28718761   PMID:29117863   PMID:29229926   PMID:29467282   PMID:29509190  
PMID:30349055   PMID:30463901   PMID:30575818   PMID:30619736   PMID:30669930   PMID:30804502   PMID:30895811   PMID:30948266   PMID:30997501   PMID:31091453   PMID:31152661   PMID:31452512  
PMID:31536960   PMID:31901042   PMID:32205097   PMID:32994395   PMID:33087562   PMID:33417871   PMID:33423264   PMID:33545068   PMID:33567341   PMID:33742100   PMID:33838681   PMID:33863777  
PMID:33957083   PMID:33961781   PMID:34011540   PMID:34079125   PMID:34709266   PMID:35122331   PMID:35140242   PMID:35156780   PMID:35241646   PMID:35256949   PMID:35509820   PMID:35563538  
PMID:35819319   PMID:35831314   PMID:35844135   PMID:35944360   PMID:36012204   PMID:36095012   PMID:36114006   PMID:36215168   PMID:36225252   PMID:36252997   PMID:36282215   PMID:36398662  
PMID:36736316  


Genomics

Comparative Map Data
MCCC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38571,587,340 - 71,658,706 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl571,579,531 - 71,658,706 (+)EnsemblGRCh38hg38GRCh38
GRCh37570,883,167 - 70,954,533 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36570,918,910 - 70,988,981 (+)NCBINCBI36Build 36hg18NCBI36
Build 34570,918,909 - 70,988,981NCBI
Celera566,778,848 - 66,850,229 (+)NCBICelera
Cytogenetic Map5q13.2NCBI
HuRef566,088,903 - 66,160,527 (+)NCBIHuRef
CHM1_1570,315,816 - 70,387,189 (+)NCBICHM1_1
T2T-CHM13v2.0572,068,680 - 72,140,018 (+)NCBIT2T-CHM13v2.0
Mccc2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3913100,085,040 - 100,152,147 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl13100,085,038 - 100,152,147 (-)EnsemblGRCm39 Ensembl
GRCm381399,948,532 - 100,015,639 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1399,948,530 - 100,015,639 (-)EnsemblGRCm38mm10GRCm38
MGSCv3713100,718,487 - 100,785,594 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3613101,048,783 - 101,115,886 (-)NCBIMGSCv36mm8
Celera13103,601,615 - 103,669,283 (-)NCBICelera
Cytogenetic Map13D1NCBI
cM Map1352.9NCBI
Mccc2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2231,304,927 - 31,375,978 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl231,304,932 - 31,375,972 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx238,383,154 - 38,454,061 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0236,477,507 - 36,548,413 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0231,270,308 - 31,341,430 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0230,175,017 - 30,246,028 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl230,175,018 - 30,246,010 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0249,333,901 - 49,404,647 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4230,961,607 - 31,032,883 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1230,881,976 - 30,953,252 (-)NCBI
Celera227,327,945 - 27,397,754 (-)NCBICelera
Cytogenetic Map2q12NCBI
Mccc2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955575445,619 - 505,040 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955575445,627 - 503,891 (+)NCBIChiLan1.0ChiLan1.0
MCCC2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1541,804,951 - 41,880,028 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0543,650,993 - 43,724,877 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1544,298,650 - 44,369,106 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl544,298,650 - 44,369,106 (-)Ensemblpanpan1.1panPan2
MCCC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1254,751,703 - 54,825,133 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl254,751,698 - 54,823,273 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha251,718,218 - 51,791,623 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0255,265,241 - 55,340,500 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl255,265,213 - 55,340,215 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1252,327,887 - 52,401,292 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0253,094,755 - 53,168,219 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0253,986,123 - 54,059,570 (+)NCBIUU_Cfam_GSD_1.0
Mccc2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213186,028,772 - 186,100,599 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365494,755,546 - 4,830,242 (-)EnsemblSpeTri2.0
SpeTri2.0NW_0049365494,760,073 - 4,830,190 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MCCC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1647,917,291 - 47,996,534 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11647,917,308 - 47,996,540 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21651,863,689 - 51,939,708 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MCCC2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1465,944,742 - 66,013,663 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl465,944,840 - 66,013,663 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604914,689,886 - 14,759,320 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mccc2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624905645,715 - 712,364 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624905645,782 - 709,611 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MCCC2
545 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_022132.5(MCCC2):c.987dup (p.Asp330Ter) duplication 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000550314] Chr5:71635231..71635232 [GRCh38]
Chr5:70931058..70931059 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.449_450del (p.Val150fs) microsatellite not provided [RCV000520915] Chr5:71602569..71602570 [GRCh38]
Chr5:70898396..70898397 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.4(MCCC2):c.1367_1368inv (p.Ala456Val) inversion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000694490]|not provided [RCV000521841] Chr5:71649247..71649248 [GRCh38]
Chr5:70945074..70945075 [GRCh37]
Chr5:5q13.2
pathogenic|uncertain significance
NM_022132.5(MCCC2):c.1619T>A (p.Val540Asp) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001829505]|not provided [RCV000523782] Chr5:71656787 [GRCh38]
Chr5:70952614 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1450A>C (p.Thr484Pro) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000532761] Chr5:71650145 [GRCh38]
Chr5:70945972 [GRCh37]
Chr5:5q13.2
likely pathogenic|uncertain significance
NM_022132.5(MCCC2):c.517dup (p.Ser173fs) duplication 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000001996]|not provided [RCV000598746] Chr5:71604359..71604360 [GRCh38]
Chr5:70900186..70900187 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000001997]|not provided [RCV000082095] Chr5:71599672 [GRCh38]
Chr5:70895499 [GRCh37]
Chr5:5q13.2
pathogenic|likely pathogenic
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000001998] Chr5:71602586 [GRCh38]
Chr5:70898413 [GRCh37]
Chr5:5q13.2
pathogenic|likely pathogenic
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000001999]|Autism spectrum disorder [RCV003313912] Chr5:71635176 [GRCh38]
Chr5:70931003 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000002000] Chr5:71602621 [GRCh38]
Chr5:70898448 [GRCh37]
Chr5:5q13.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022132.5(MCCC2):c.803G>C (p.Arg268Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000002001]|not provided [RCV000584948] Chr5:71632185 [GRCh38]
Chr5:70928012 [GRCh37]
Chr5:5q13.2
pathogenic|uncertain significance
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000002002]|not provided [RCV001723531] Chr5:71649189 [GRCh38]
Chr5:70945016 [GRCh37]
Chr5:5q13.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022132.5(MCCC2):c.569A>G (p.His190Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000002003] Chr5:71604413 [GRCh38]
Chr5:70900240 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000002004] Chr5:71634977 [GRCh38]
Chr5:70930804 [GRCh37]
Chr5:5q13.2
pathogenic|likely pathogenic
NM_022132.5(MCCC2):c.1574+1G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000002005] Chr5:71652755 [GRCh38]
Chr5:70948582 [GRCh37]
Chr5:5q13.2
pathogenic|likely pathogenic
NM_022132.5(MCCC2):c.1149+139TG[23] microsatellite not provided [RCV001571116] Chr5:71644033..71644034 [GRCh38]
Chr5:70939860..70939861 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1439A>G (p.Asn480Ser) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000878909]|not provided [RCV001697347] Chr5:71650134 [GRCh38]
Chr5:70945961 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.904-10A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001494445] Chr5:71635141 [GRCh38]
Chr5:70930968 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1559A>C (p.Tyr520Ser) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000542781]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271411] Chr5:71652739 [GRCh38]
Chr5:70948566 [GRCh37]
Chr5:5q13.2
pathogenic|uncertain significance
GRCh38/hg38 5q13.2(chr5:71620401-71725140)x1 copy number loss See cases [RCV000054136] Chr5:71620401..71725140 [GRCh38]
Chr5:70916228..71020967 [GRCh37]
Chr5:70951984..71056723 [NCBI36]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1019A>T (p.Asp340Val) single nucleotide variant not provided [RCV000082091] Chr5:71641022 [GRCh38]
Chr5:70936849 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.116C>T (p.Ser39Phe) single nucleotide variant not provided [RCV000259051] Chr5:71587541 [GRCh38]
Chr5:70883368 [GRCh37]
Chr5:5q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_022132.5(MCCC2):c.1368A>G (p.Ala456=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000333305]|not provided [RCV001636650]|not specified [RCV000082093] Chr5:71649248 [GRCh38]
Chr5:70945075 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000539137]|Inborn genetic diseases [RCV002513843]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271408]|not provided [RCV000723495]|not specified [RCV002509204] Chr5:71650128 [GRCh38]
Chr5:70945955 [GRCh37]
Chr5:5q13.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022132.5(MCCC2):c.380C>G (p.Ser127Ter) single nucleotide variant not provided [RCV000178333] Chr5:71599757 [GRCh38]
Chr5:70895584 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.904-12A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000259351]|not provided [RCV001682788]|not specified [RCV000082097] Chr5:71635139 [GRCh38]
Chr5:70930966 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1081C>T (p.Arg361Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001852125]|not provided [RCV000174397] Chr5:71643827 [GRCh38]
Chr5:70939654 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.557_560delinsTTGTCGAGGTAAGTGT (p.Pro186_Asp187delinsLeuValGluValSerVal) indel 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001246928]|not provided [RCV000179521]|not specified [RCV001582674] Chr5:71604401..71604404 [GRCh38]
Chr5:70900228..70900231 [GRCh37]
Chr5:5q13.2
pathogenic|likely pathogenic|uncertain significance
NM_022132.5(MCCC2):c.518C>G (p.Ser173Trp) single nucleotide variant not provided [RCV000179522]|not specified [RCV003235101] Chr5:71604362 [GRCh38]
Chr5:70900189 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000179523]|Methylcrotonyl-CoA carboxylase deficiency [RCV002298507]|not provided [RCV000185999] Chr5:71604412 [GRCh38]
Chr5:70900239 [GRCh37]
Chr5:5q13.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000554324]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271409]|not provided [RCV000174945] Chr5:71650136 [GRCh38]
Chr5:70945963 [GRCh37]
Chr5:5q13.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3
pathogenic
NM_022132.5(MCCC2):c.6G>C (p.Trp2Cys) single nucleotide variant not provided [RCV000153470] Chr5:71587431 [GRCh38]
Chr5:70883258 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.446C>T (p.Thr149Ile) single nucleotide variant not provided [RCV000153471] Chr5:71602568 [GRCh38]
Chr5:70898395 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.478G>A (p.Ala160Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000704177]|not provided [RCV000153472] Chr5:71602600 [GRCh38]
Chr5:70898427 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000509529]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271684]|not provided [RCV000153473]|not specified [RCV001844053] Chr5:71604443 [GRCh38]
Chr5:70900270 [GRCh37]
Chr5:5q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001384042]|not provided [RCV000173893] Chr5:71635241 [GRCh38]
Chr5:70931068 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.1367C>T (p.Ala456Val) single nucleotide variant not provided [RCV000153475] Chr5:71649247 [GRCh38]
Chr5:70945074 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1000-14_1000-12del microsatellite not specified [RCV000185997] Chr5:71640984..71640986 [GRCh38]
Chr5:70936811..70936813 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1181G>T (p.Arg394Ile) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001235788] Chr5:71646242 [GRCh38]
Chr5:70942069 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001378263] Chr5:71604362 [GRCh38]
Chr5:70900189 [GRCh37]
Chr5:5q13.2
pathogenic|likely pathogenic
NM_022132.5(MCCC2):c.577C>T (p.Arg193Cys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001248667]|Methylcrotonyl-CoA carboxylase deficiency [RCV002282018] Chr5:71604421 [GRCh38]
Chr5:70900248 [GRCh37]
Chr5:5q13.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000415228]|Inborn genetic diseases [RCV002513957]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271403]|See cases [RCV002252031]|not provided [RCV000186002] Chr5:71641018 [GRCh38]
Chr5:70936845 [GRCh37]
Chr5:5q13.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000525215]|Inborn genetic diseases [RCV002513958]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271404]|not provided [RCV000186003] Chr5:71641068 [GRCh38]
Chr5:70936895 [GRCh37]
Chr5:5q13.2
pathogenic|likely pathogenic|uncertain significance
NM_022132.5(MCCC2):c.190A>T (p.Lys64Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002685993] Chr5:71592986 [GRCh38]
Chr5:70888813 [GRCh37]
Chr5:5q13.2
pathogenic|likely pathogenic
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000477880]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271407]|not provided [RCV000186005]|not specified [RCV002282019] Chr5:71649202 [GRCh38]
Chr5:70945029 [GRCh37]
Chr5:5q13.2
likely pathogenic|uncertain significance
NM_022132.5(MCCC2):c.214C>T (p.Arg72Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001228980]|not provided [RCV000291859] Chr5:71596297 [GRCh38]
Chr5:70892124 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.1290C>G (p.Ala430=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002170239] Chr5:71649170 [GRCh38]
Chr5:70944997 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.*1573C>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000284224] Chr5:71658433 [GRCh38]
Chr5:70954260 [GRCh37]
Chr5:5q13.2
benign|likely benign
NM_022132.5(MCCC2):c.1373+27A>G single nucleotide variant not specified [RCV000244282] Chr5:71649280 [GRCh38]
Chr5:70945107 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1578A>G (p.Val526=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000872944]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271413]|not specified [RCV000244585] Chr5:71656746 [GRCh38]
Chr5:70952573 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.282-7G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000870656]|not specified [RCV000249547] Chr5:71599652 [GRCh38]
Chr5:70895479 [GRCh37]
Chr5:5q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_022132.5(MCCC2):c.738+36G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001530406]|not provided [RCV001675757]|not specified [RCV000254543] Chr5:71626789 [GRCh38]
Chr5:70922616 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001041177]|Inborn genetic diseases [RCV002523533] Chr5:71656825 [GRCh38]
Chr5:70952652 [GRCh37]
Chr5:5q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_022132.5(MCCC2):c.1488+10G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000875047]|not specified [RCV000247635] Chr5:71650193 [GRCh38]
Chr5:70946020 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1574+37C>G single nucleotide variant not provided [RCV001582876]|not specified [RCV000252585] Chr5:71652791 [GRCh38]
Chr5:70948618 [GRCh37]
Chr5:5q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_022132.5(MCCC2):c.*1198C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000268763] Chr5:71658058 [GRCh38]
Chr5:70953885 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.739-25C>T single nucleotide variant not provided [RCV001683107]|not specified [RCV000243194] Chr5:71632096 [GRCh38]
Chr5:70927923 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.999+39T>G single nucleotide variant not provided [RCV001668581]|not specified [RCV000253141] Chr5:71635285 [GRCh38]
Chr5:70931112 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.675C>A (p.Ala225=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000354128] Chr5:71626690 [GRCh38]
Chr5:70922517 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*1381A>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000378534] Chr5:71658241 [GRCh38]
Chr5:70954068 [GRCh37]
Chr5:5q13.2
benign|uncertain significance
NM_022132.5(MCCC2):c.*565C>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000286869] Chr5:71657425 [GRCh38]
Chr5:70953252 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*526C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000381334] Chr5:71657386 [GRCh38]
Chr5:70953213 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*593G>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000404190] Chr5:71657453 [GRCh38]
Chr5:70953280 [GRCh37]
Chr5:5q13.2
benign|likely benign
NM_022132.5(MCCC2):c.*1354C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000323938] Chr5:71658214 [GRCh38]
Chr5:70954041 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.-38G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000357588]|not specified [RCV000420533] Chr5:71587388 [GRCh38]
Chr5:70883215 [GRCh37]
Chr5:5q13.2
likely benign|uncertain significance
NM_022132.5(MCCC2):c.*368T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000345546] Chr5:71657228 [GRCh38]
Chr5:70953055 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*247C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000384930]|not provided [RCV001712154] Chr5:71657107 [GRCh38]
Chr5:70952934 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.*1080G>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000327233] Chr5:71657940 [GRCh38]
Chr5:70953767 [GRCh37]
Chr5:5q13.2
likely benign|uncertain significance
NM_022132.5(MCCC2):c.*725C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000297159] Chr5:71657585 [GRCh38]
Chr5:70953412 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*245T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000330448]|not provided [RCV001594987] Chr5:71657105 [GRCh38]
Chr5:70952932 [GRCh37]
Chr5:5q13.2
likely benign|uncertain significance
NM_022132.5(MCCC2):c.*819G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000370807] Chr5:71657679 [GRCh38]
Chr5:70953506 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.615T>G (p.Asn205Lys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000299322] Chr5:71604459 [GRCh38]
Chr5:70900286 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*577T>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000341967] Chr5:71657437 [GRCh38]
Chr5:70953264 [GRCh37]
Chr5:5q13.2
likely benign|uncertain significance
NM_022132.5(MCCC2):c.*940C>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000272217] Chr5:71657800 [GRCh38]
Chr5:70953627 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001833370]|not provided [RCV000376860] Chr5:71626667 [GRCh38]
Chr5:70922494 [GRCh37]
Chr5:5q13.2
pathogenic|likely pathogenic
NM_022132.5(MCCC2):c.384-20A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002527038]|not provided [RCV000489298] Chr5:71602486 [GRCh38]
Chr5:70898313 [GRCh37]
Chr5:5q13.2
likely pathogenic|uncertain significance
NM_022132.5(MCCC2):c.196+113del deletion not provided [RCV001546837] Chr5:71593090 [GRCh38]
Chr5:70888917 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.417C>T (p.Thr139=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001401854]|Methylcrotonyl-CoA carboxylase deficiency [RCV001279166] Chr5:71602539 [GRCh38]
Chr5:70898366 [GRCh37]
Chr5:5q13.2
likely benign|uncertain significance
NM_022132.5(MCCC2):c.775G>T (p.Asp259Tyr) single nucleotide variant Inborn genetic diseases [RCV003246826]|Methylcrotonyl-CoA carboxylase deficiency [RCV001279169] Chr5:71632157 [GRCh38]
Chr5:70927984 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1438A>G (p.Asn480Asp) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003120524]|Methylcrotonyl-CoA carboxylase deficiency [RCV001279174] Chr5:71650133 [GRCh38]
Chr5:70945960 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1474C>T (p.Arg492Trp) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001279175] Chr5:71650169 [GRCh38]
Chr5:70945996 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1674C>T (p.Phe558=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001443590]|Methylcrotonyl-CoA carboxylase deficiency [RCV001279181] Chr5:71656842 [GRCh38]
Chr5:70952669 [GRCh37]
Chr5:5q13.2
likely benign|uncertain significance
NM_022132.5(MCCC2):c.511+7dup duplication 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000531845]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271398]|not specified [RCV000605698] Chr5:71602639..71602640 [GRCh38]
Chr5:70898466..70898467 [GRCh37]
Chr5:5q13.2
benign
NC_000005.10:g.(?_71626620)_(71649273_?)del deletion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000526440] Chr5:71626620..71649273 [GRCh38]
Chr5:70922447..70945100 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.*1144A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000363375] Chr5:71658004 [GRCh38]
Chr5:70953831 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*839T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000399718] Chr5:71657699 [GRCh38]
Chr5:70953526 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*878T>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000367250] Chr5:71657738 [GRCh38]
Chr5:70953565 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1572A>T (p.Ala524=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000387843]|not provided [RCV000595205] Chr5:71652752 [GRCh38]
Chr5:70948579 [GRCh37]
Chr5:5q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_022132.5(MCCC2):c.*699T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000337096] Chr5:71657559 [GRCh38]
Chr5:70953386 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*719del deletion Methylcrotonyl-CoA carboxylase deficiency [RCV000395340] Chr5:71657579 [GRCh38]
Chr5:70953406 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*659C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000300834] Chr5:71657519 [GRCh38]
Chr5:70953346 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*856C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000312514] Chr5:71657716 [GRCh38]
Chr5:70953543 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1179A>G (p.Gln393=) single nucleotide variant not specified [RCV000600647] Chr5:71646240 [GRCh38]
Chr5:70942067 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.*260T>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000290492] Chr5:71657120 [GRCh38]
Chr5:70952947 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1412_1413del (p.Ser471fs) deletion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002535156]|not provided [RCV000730510] Chr5:71650107..71650108 [GRCh38]
Chr5:70945934..70945935 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001066211]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271399]|not provided [RCV000578777] Chr5:71604382 [GRCh38]
Chr5:70900209 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.738+9A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001082715]|not provided [RCV000730706] Chr5:71626762 [GRCh38]
Chr5:70922589 [GRCh37]
Chr5:5q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022132.5(MCCC2):c.142C>T (p.Gln48Ter) single nucleotide variant not provided [RCV000733133] Chr5:71592938 [GRCh38]
Chr5:70888765 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.1273A>G (p.Met425Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000540369] Chr5:71649153 [GRCh38]
Chr5:70944980 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000533421]|Inborn genetic diseases [RCV002526154]|Methylcrotonyl-CoA carboxylase deficiency [RCV003226322]|not provided [RCV002469192] Chr5:71650118 [GRCh38]
Chr5:70945945 [GRCh37]
Chr5:5q13.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022132.5(MCCC2):c.1374-19C>A single nucleotide variant not specified [RCV000417642] Chr5:71650050 [GRCh38]
Chr5:70945877 [GRCh37]
Chr5:5q13.2
likely benign
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_022132.5(MCCC2):c.330C>T (p.Asp110=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000973790]|not specified [RCV000424732] Chr5:71599707 [GRCh38]
Chr5:70895534 [GRCh37]
Chr5:5q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_022132.5(MCCC2):c.-20C>G single nucleotide variant not specified [RCV000428880] Chr5:71587406 [GRCh38]
Chr5:70883233 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.969T>C (p.Ala323=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000541299]|not specified [RCV000443240] Chr5:71635216 [GRCh38]
Chr5:70931043 [GRCh37]
Chr5:5q13.2
benign|likely benign
NM_022132.5(MCCC2):c.1215T>G (p.Thr405=) single nucleotide variant not specified [RCV000436254] Chr5:71646276 [GRCh38]
Chr5:70942103 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.302C>A (p.Ser101Tyr) single nucleotide variant not provided [RCV000434603] Chr5:71599679 [GRCh38]
Chr5:70895506 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.1509G>A (p.Ala503=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001449344]|not specified [RCV000440911] Chr5:71652689 [GRCh38]
Chr5:70948516 [GRCh37]
Chr5:5q13.2
likely benign
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_022132.5(MCCC2):c.1064T>A (p.Leu355Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001231606] Chr5:71641067 [GRCh38]
Chr5:70936894 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.798T>C (p.His266=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000535149] Chr5:71632180 [GRCh38]
Chr5:70928007 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1217-7C>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000870657]|not specified [RCV000605933] Chr5:71649090 [GRCh38]
Chr5:70944917 [GRCh37]
Chr5:5q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_022132.5(MCCC2):c.436T>G (p.Tyr146Asp) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000644020] Chr5:71602558 [GRCh38]
Chr5:70898385 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter) duplication 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000644019]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271414] Chr5:71656799..71656800 [GRCh38]
Chr5:70952626..70952627 [GRCh37]
Chr5:5q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_022132.5(MCCC2):c.665A>G (p.Tyr222Cys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000644024] Chr5:71626680 [GRCh38]
Chr5:70922507 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1216+2T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000644023]|Methylcrotonyl-CoA carboxylase deficiency [RCV002222578] Chr5:71646279 [GRCh38]
Chr5:70942106 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.995G>A (p.Arg332Gln) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000534214]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271401]|not provided [RCV001559390] Chr5:71635242 [GRCh38]
Chr5:70931069 [GRCh37]
Chr5:5q13.2
pathogenic|uncertain significance
NM_022132.5(MCCC2):c.455A>C (p.Lys152Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000644022]|not specified [RCV003230563] Chr5:71602577 [GRCh38]
Chr5:70898404 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.864G>A (p.Arg288=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001155000]|not specified [RCV000605370] Chr5:71635003 [GRCh38]
Chr5:70930830 [GRCh37]
Chr5:5q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022132.5(MCCC2):c.625-17G>A single nucleotide variant not provided [RCV000614934] Chr5:71626623 [GRCh38]
Chr5:70922450 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.279A>T (p.Pro93=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003117391]|not specified [RCV000615926] Chr5:71596362 [GRCh38]
Chr5:70892189 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.72C>G (p.His24Gln) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000625574] Chr5:71587497 [GRCh38]
Chr5:70883324 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1521G>A (p.Glu507=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002065436]|not specified [RCV000613136] Chr5:71652701 [GRCh38]
Chr5:70948528 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.709G>C (p.Gly237Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000556717] Chr5:71626724 [GRCh38]
Chr5:70922551 [GRCh37]
Chr5:5q13.2
likely pathogenic|uncertain significance
NM_022132.5(MCCC2):c.1574+6G>C single nucleotide variant not specified [RCV000616777] Chr5:71652760 [GRCh38]
Chr5:70948587 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1150-17_1150-16del deletion not specified [RCV000610974] Chr5:71646193..71646194 [GRCh38]
Chr5:70942020..70942021 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.815T>G (p.Val272Gly) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001060906]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271400]|not provided [RCV000595406] Chr5:71634954 [GRCh38]
Chr5:70930781 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.295G>A (p.Glu99Lys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000557643] Chr5:71599672 [GRCh38]
Chr5:70895499 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1368A>T (p.Ala456=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002064275]|not specified [RCV000614666] Chr5:71649248 [GRCh38]
Chr5:70945075 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1373+18C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002528700]|not specified [RCV000605409] Chr5:71649271 [GRCh38]
Chr5:70945098 [GRCh37]
Chr5:5q13.2
benign|likely benign
NM_022132.5(MCCC2):c.1640C>T (p.Ala547Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000644021] Chr5:71656808 [GRCh38]
Chr5:70952635 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.54C>G (p.Ala18=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001407373]|not specified [RCV000607642] Chr5:71587479 [GRCh38]
Chr5:70883306 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.688A>G (p.Asn230Asp) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000700140]|Methylcrotonyl-CoA carboxylase deficiency [RCV001824869] Chr5:71626703 [GRCh38]
Chr5:70922530 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.746C>T (p.Ala249Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001248483] Chr5:71632128 [GRCh38]
Chr5:70927955 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.999G>T (p.Glu333Asp) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000699138] Chr5:71635246 [GRCh38]
Chr5:70931073 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.653C>T (p.Ala218Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000697287]|not provided [RCV001574319]|not specified [RCV001779062] Chr5:71626668 [GRCh38]
Chr5:70922495 [GRCh37]
Chr5:5q13.2
likely pathogenic|uncertain significance
NM_022132.5(MCCC2):c.539G>A (p.Arg180Gln) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000687564] Chr5:71604383 [GRCh38]
Chr5:70900210 [GRCh37]
Chr5:5q13.2
likely benign|uncertain significance
NM_022132.5(MCCC2):c.735dup (p.Val247fs) duplication 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000707096] Chr5:71626744..71626745 [GRCh38]
Chr5:70922571..70922572 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.1282G>A (p.Ala428Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000690509]|Inborn genetic diseases [RCV002544880]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271406] Chr5:71649162 [GRCh38]
Chr5:70944989 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1235A>C (p.Glu412Ala) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000705638] Chr5:71649115 [GRCh38]
Chr5:70944942 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000691743]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271415]|not specified [RCV003323691] Chr5:71656858 [GRCh38]
Chr5:70952685 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000686151]|not provided [RCV001567596] Chr5:71602585 [GRCh38]
Chr5:70898412 [GRCh37]
Chr5:5q13.2
pathogenic|likely pathogenic
NM_022132.5(MCCC2):c.1504G>C (p.Glu502Gln) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000687191]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271410] Chr5:71652684 [GRCh38]
Chr5:70948511 [GRCh37]
Chr5:5q13.2
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_022132.5(MCCC2):c.1488+113G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001530427]|not provided [RCV001615239] Chr5:71650296 [GRCh38]
Chr5:70946123 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1149+139TG[24] microsatellite not provided [RCV001725713] Chr5:71644033..71644034 [GRCh38]
Chr5:70939860..70939861 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1216+163A>G single nucleotide variant not provided [RCV001571211] Chr5:71646440 [GRCh38]
Chr5:70942267 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1149+138_1149+139del deletion not provided [RCV001645052] Chr5:71644033..71644034 [GRCh38]
Chr5:70939860..70939861 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1196T>A (p.Leu399Gln) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001580735] Chr5:71646257 [GRCh38]
Chr5:70942084 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1567A>G (p.Ser523Gly) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001580737] Chr5:71652747 [GRCh38]
Chr5:70948574 [GRCh37]
Chr5:5q13.2
likely pathogenic|conflicting interpretations of pathogenicity
NM_022132.5(MCCC2):c.1072+57A>G single nucleotide variant not provided [RCV001551429] Chr5:71641132 [GRCh38]
Chr5:70936959 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1150-105G>T single nucleotide variant not provided [RCV001577770] Chr5:71646106 [GRCh38]
Chr5:70941933 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1149+176GC[2] microsatellite not provided [RCV001679108] Chr5:71644071..71644072 [GRCh38]
Chr5:70939898..70939899 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1406G>A (p.Arg469His) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001580558]|not provided [RCV000998394] Chr5:71650101 [GRCh38]
Chr5:70945928 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.630A>G (p.Ala210=) single nucleotide variant not provided [RCV000976079] Chr5:71626645 [GRCh38]
Chr5:70922472 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.162T>C (p.Asn54=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000924314]|Methylcrotonyl-CoA carboxylase deficiency [RCV001278391] Chr5:71592958 [GRCh38]
Chr5:70888785 [GRCh37]
Chr5:5q13.2
likely benign|uncertain significance
NM_022132.5(MCCC2):c.1095C>T (p.Tyr365=) single nucleotide variant not provided [RCV000937842] Chr5:71643841 [GRCh38]
Chr5:70939668 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.739-7G>A single nucleotide variant not provided [RCV000924615] Chr5:71632114 [GRCh38]
Chr5:70927941 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1010G>C (p.Arg337Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001036916] Chr5:71641013 [GRCh38]
Chr5:70936840 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1565C>T (p.Ser522Phe) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001051241] Chr5:71652745 [GRCh38]
Chr5:70948572 [GRCh37]
Chr5:5q13.2
uncertain significance
NC_000005.10:g.(?_71599649)_(71599770_?)del deletion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001033441] Chr5:70895476..70895597 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.1407dup (p.Ile470fs) duplication 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000779478] Chr5:71650101..71650102 [GRCh38]
Chr5:70945928..70945929 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.114C>G (p.Gly38=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000920750] Chr5:71587539 [GRCh38]
Chr5:70883366 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1281C>T (p.Ala427=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000940148] Chr5:71649161 [GRCh38]
Chr5:70944988 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1449C>T (p.Ala483=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001401545] Chr5:71650144 [GRCh38]
Chr5:70945971 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.450G>C (p.Val150=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000875952] Chr5:71602572 [GRCh38]
Chr5:70898399 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1494C>T (p.Ser498=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000941632] Chr5:71652674 [GRCh38]
Chr5:70948501 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.581del (p.Thr194fs) deletion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000804187] Chr5:71604425 [GRCh38]
Chr5:70900252 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.430G>T (p.Ala144Ser) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000820197] Chr5:71602552 [GRCh38]
Chr5:70898379 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.739-262C>T single nucleotide variant not provided [RCV000844423] Chr5:71631859 [GRCh38]
Chr5:70927686 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.804-261T>C single nucleotide variant not provided [RCV000844424] Chr5:71634682 [GRCh38]
Chr5:70930509 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1000-187C>G single nucleotide variant not provided [RCV000844425] Chr5:71640816 [GRCh38]
Chr5:70936643 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1073-209G>A single nucleotide variant not provided [RCV000844426] Chr5:71643610 [GRCh38]
Chr5:70939437 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1149+179C>T single nucleotide variant not provided [RCV000844427] Chr5:71644074 [GRCh38]
Chr5:70939901 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1488+312C>T single nucleotide variant not provided [RCV000844429] Chr5:71650495 [GRCh38]
Chr5:70946322 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1489-233C>T single nucleotide variant not provided [RCV000844433] Chr5:71652436 [GRCh38]
Chr5:70948263 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.129G>A (p.Gln43=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000818681] Chr5:71587554 [GRCh38]
Chr5:70883381 [GRCh37]
Chr5:5q13.2
uncertain significance
GRCh37/hg19 5q13.2(chr5:70613848-70928704)x3 copy number gain not provided [RCV000849328] Chr5:70613848..70928704 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1043A>G (p.Lys348Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000808719] Chr5:71641046 [GRCh38]
Chr5:70936873 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.281+1G>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000794997] Chr5:71596365 [GRCh38]
Chr5:70892192 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.1149+177C>T single nucleotide variant not provided [RCV000826251] Chr5:71644072 [GRCh38]
Chr5:70939899 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.*16T>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001151203] Chr5:71656876 [GRCh38]
Chr5:70952703 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.125A>G (p.Tyr42Cys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000794344] Chr5:71587550 [GRCh38]
Chr5:70883377 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*970G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001151326] Chr5:71657830 [GRCh38]
Chr5:70953657 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.*1297G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001151329] Chr5:71658157 [GRCh38]
Chr5:70953984 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000805067]|not provided [RCV001546546] Chr5:71626656 [GRCh38]
Chr5:70922483 [GRCh37]
Chr5:5q13.2
likely pathogenic|uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_022132.5(MCCC2):c.891_892del (p.Lys298fs) deletion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000794342] Chr5:71635029..71635030 [GRCh38]
Chr5:70930856..70930857 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.506A>G (p.Tyr169Cys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000808115] Chr5:71602628 [GRCh38]
Chr5:70898455 [GRCh37]
Chr5:5q13.2
pathogenic|uncertain significance
NM_022132.4(MCCC2):c.-336A>T single nucleotide variant not provided [RCV000844416] Chr5:71587090 [GRCh38]
Chr5:70882917 [GRCh37]
Chr5:5q13.2
benign
NM_022132.4(MCCC2):c.-303C>G single nucleotide variant not provided [RCV000844418] Chr5:71587123 [GRCh38]
Chr5:70882950 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1488+3C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001274210]|not provided [RCV000826296] Chr5:71650186 [GRCh38]
Chr5:70946013 [GRCh37]
Chr5:5q13.2
likely benign|uncertain significance
NM_022132.5(MCCC2):c.440C>T (p.Pro147Leu) single nucleotide variant not provided [RCV001169852] Chr5:71602562 [GRCh38]
Chr5:70898389 [GRCh37]
Chr5:5q13.2
likely pathogenic
GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1 copy number loss Intellectual disability [RCV000984869] Chr5:58785203..73519962 [GRCh38]
Chr5:5q11.2-13.2
likely pathogenic
NM_022132.5(MCCC2):c.32C>T (p.Pro11Leu) single nucleotide variant not provided [RCV000998393] Chr5:71587457 [GRCh38]
Chr5:70883284 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1313C>A (p.Thr438Asn) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001043040] Chr5:71649193 [GRCh38]
Chr5:70945020 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1639G>A (p.Ala547Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001224162] Chr5:71656807 [GRCh38]
Chr5:70952634 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.701G>A (p.Arg234His) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001239047]|Inborn genetic diseases [RCV002563933] Chr5:71626716 [GRCh38]
Chr5:70922543 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.326A>G (p.Tyr109Cys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001237411] Chr5:71599703 [GRCh38]
Chr5:70895530 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.4(MCCC2):c.739del deletion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001203492] Chr5:71632120 [GRCh38]
Chr5:70927947 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.250A>G (p.Arg84Gly) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001237424] Chr5:71596333 [GRCh38]
Chr5:70892160 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.181G>T (p.Glu61Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001237425] Chr5:71592977 [GRCh38]
Chr5:70888804 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.185A>G (p.His62Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001209006] Chr5:71592981 [GRCh38]
Chr5:70888808 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1103del (p.Gly368fs) deletion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001210072] Chr5:71643848 [GRCh38]
Chr5:70939675 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.578G>A (p.Arg193His) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001221718] Chr5:71604422 [GRCh38]
Chr5:70900249 [GRCh37]
Chr5:5q13.2
likely pathogenic|uncertain significance
NM_022132.5(MCCC2):c.1574+5G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001156664] Chr5:71652759 [GRCh38]
Chr5:70948586 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*843A>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001156775] Chr5:71657703 [GRCh38]
Chr5:70953530 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*941A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001156776] Chr5:71657801 [GRCh38]
Chr5:70953628 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.58C>T (p.Pro20Ser) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001154159]|Inborn genetic diseases [RCV003163340] Chr5:71587483 [GRCh38]
Chr5:70883310 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*552C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001154277] Chr5:71657412 [GRCh38]
Chr5:70953239 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*700G>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001155111] Chr5:71657560 [GRCh38]
Chr5:70953387 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*1272A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001151328] Chr5:71658132 [GRCh38]
Chr5:70953959 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.999+105A>G single nucleotide variant not provided [RCV001582037] Chr5:71635351 [GRCh38]
Chr5:70931178 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1000-299G>A single nucleotide variant not provided [RCV001551710] Chr5:71640704 [GRCh38]
Chr5:70936531 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.196+113dup duplication not provided [RCV001553010] Chr5:71593089..71593090 [GRCh38]
Chr5:70888916..70888917 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.197-75_197-69del deletion not provided [RCV001725652] Chr5:71596201..71596207 [GRCh38]
Chr5:70892028..70892034 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.282-334G>A single nucleotide variant not provided [RCV001713961] Chr5:71599325 [GRCh38]
Chr5:70895152 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.625-245C>T single nucleotide variant not provided [RCV001645796] Chr5:71626395 [GRCh38]
Chr5:70922222 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.624+57G>T single nucleotide variant not provided [RCV001595338] Chr5:71604525 [GRCh38]
Chr5:70900352 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1149+138A>G single nucleotide variant not provided [RCV001676136] Chr5:71644033 [GRCh38]
Chr5:70939860 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.196+98_196+99insA insertion not provided [RCV001674417] Chr5:71593090..71593091 [GRCh38]
Chr5:70888917..70888918 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1149+137_1149+138insGTGT insertion not provided [RCV001616905] Chr5:71644032..71644033 [GRCh38]
Chr5:70939859..70939860 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1000-151T>C single nucleotide variant not provided [RCV001552107] Chr5:71640852 [GRCh38]
Chr5:70936679 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.130-79T>C single nucleotide variant not provided [RCV001558647] Chr5:71592847 [GRCh38]
Chr5:70888674 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.512-114G>A single nucleotide variant not provided [RCV001620785] Chr5:71604242 [GRCh38]
Chr5:70900069 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.625-339C>T single nucleotide variant not provided [RCV001621752] Chr5:71626301 [GRCh38]
Chr5:70922128 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1374-10C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000925012]|Methylcrotonyl-CoA carboxylase deficiency [RCV001274209] Chr5:71650059 [GRCh38]
Chr5:70945886 [GRCh37]
Chr5:5q13.2
likely benign|uncertain significance
NM_022132.5(MCCC2):c.1014C>T (p.Ile338=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000908433]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271402] Chr5:71641017 [GRCh38]
Chr5:70936844 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1569C>T (p.Ser523=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000904098]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271412] Chr5:71652749 [GRCh38]
Chr5:70948576 [GRCh37]
Chr5:5q13.2
benign|likely benign
NM_022132.5(MCCC2):c.1017G>A (p.Val339=) single nucleotide variant not provided [RCV000909474] Chr5:71641020 [GRCh38]
Chr5:70936847 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.90G>T (p.Ser30=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV000873231] Chr5:71587515 [GRCh38]
Chr5:70883342 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.*1466T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001153831] Chr5:71658326 [GRCh38]
Chr5:70954153 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.*378T>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001154275] Chr5:71657238 [GRCh38]
Chr5:70953065 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1108G>A (p.Val370Ile) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001203648] Chr5:71643854 [GRCh38]
Chr5:70939681 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1275G>A (p.Met425Ile) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001203651] Chr5:71649155 [GRCh38]
Chr5:70944982 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.914A>G (p.Glu305Gly) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001155001]|Methylcrotonyl-CoA carboxylase deficiency [RCV001279170] Chr5:71635161 [GRCh38]
Chr5:70930988 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.226A>T (p.Ile76Leu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001069844] Chr5:71596309 [GRCh38]
Chr5:70892136 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.557del (p.Pro186fs) deletion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001211692] Chr5:71604400 [GRCh38]
Chr5:70900227 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.803+71C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001530425]|not provided [RCV001658248] Chr5:71632256 [GRCh38]
Chr5:70928083 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1488+103G>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001530426]|not provided [RCV001676026] Chr5:71650286 [GRCh38]
Chr5:70946113 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.511+204A>G single nucleotide variant not provided [RCV001563194] Chr5:71602837 [GRCh38]
Chr5:70898664 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.624+128dup duplication not provided [RCV001677775] Chr5:71604582..71604583 [GRCh38]
Chr5:70900409..70900410 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1000-237T>G single nucleotide variant not provided [RCV001559032] Chr5:71640766 [GRCh38]
Chr5:70936593 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.739-201C>T single nucleotide variant not provided [RCV001559927] Chr5:71631920 [GRCh38]
Chr5:70927747 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.384-80T>C single nucleotide variant not provided [RCV001547209] Chr5:71602426 [GRCh38]
Chr5:70898253 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.562C>T (p.Arg188Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001044034] Chr5:71604406 [GRCh38]
Chr5:70900233 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.739-92G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001530424]|not provided [RCV001655809] Chr5:71632029 [GRCh38]
Chr5:70927856 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.129+146A>G single nucleotide variant not provided [RCV001564907] Chr5:71587700 [GRCh38]
Chr5:70883527 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.456dup (p.Gln153fs) duplication not provided [RCV001008931] Chr5:71602572..71602573 [GRCh38]
Chr5:70898399..70898400 [GRCh37]
Chr5:5q13.2
pathogenic
Single allele single nucleotide variant not provided [RCV001591458] Chr5:71587242 [GRCh38]
Chr5:70883069 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1488+111G>T single nucleotide variant not provided [RCV001686296] Chr5:71650294 [GRCh38]
Chr5:70946121 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1574+237G>A single nucleotide variant not provided [RCV001620965] Chr5:71652991 [GRCh38]
Chr5:70948818 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1149+169_1149+180del deletion not provided [RCV001649544] Chr5:71644063..71644074 [GRCh38]
Chr5:70939890..70939901 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1216+232G>A single nucleotide variant not provided [RCV001638285] Chr5:71646509 [GRCh38]
Chr5:70942336 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.197-192dup duplication not provided [RCV001715505] Chr5:71596079..71596080 [GRCh38]
Chr5:70891906..70891907 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.738+132C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001530423]|not provided [RCV001540504] Chr5:71626885 [GRCh38]
Chr5:70922712 [GRCh37]
Chr5:5q13.2
benign|likely benign
NM_022132.5(MCCC2):c.*1243G>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001151327] Chr5:71658103 [GRCh38]
Chr5:70953930 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.383+4A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001154160] Chr5:71599764 [GRCh38]
Chr5:70895591 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*719A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001155113] Chr5:71657579 [GRCh38]
Chr5:70953406 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*548C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001154276] Chr5:71657408 [GRCh38]
Chr5:70953235 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*1351G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001154368] Chr5:71658211 [GRCh38]
Chr5:70954038 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.*1649C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001154371] Chr5:71658509 [GRCh38]
Chr5:70954336 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*1650G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001154372] Chr5:71658510 [GRCh38]
Chr5:70954337 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.433T>C (p.Tyr145His) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001154161] Chr5:71602555 [GRCh38]
Chr5:70898382 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*714G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001155112] Chr5:71657574 [GRCh38]
Chr5:70953401 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.940G>A (p.Ala314Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001580734] Chr5:71635187 [GRCh38]
Chr5:70931014 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1554C>A (p.Asn518Lys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001580736] Chr5:71652734 [GRCh38]
Chr5:70948561 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1149+167_1149+180del deletion not provided [RCV001590259] Chr5:71644061..71644074 [GRCh38]
Chr5:70939888..70939901 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.739-91G>C single nucleotide variant not provided [RCV001541568] Chr5:71632030 [GRCh38]
Chr5:70927857 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1150-135dup duplication not provided [RCV001669381] Chr5:71646064..71646065 [GRCh38]
Chr5:70941891..70941892 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1149+179_1149+182del microsatellite not provided [RCV001714225] Chr5:71644071..71644074 [GRCh38]
Chr5:70939898..70939901 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1149+139TG[22] microsatellite not provided [RCV001672349] Chr5:71644033..71644034 [GRCh38]
Chr5:70939860..70939861 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.196+100T>A single nucleotide variant not provided [RCV001546688] Chr5:71593092 [GRCh38]
Chr5:70888919 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1149+139TG[20] microsatellite not provided [RCV001725710] Chr5:71644033..71644034 [GRCh38]
Chr5:70939860..70939861 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1149+139TG[21] microsatellite not provided [RCV001670878] Chr5:71644033..71644034 [GRCh38]
Chr5:70939860..70939861 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1574+73G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001530429]|not provided [RCV001712961] Chr5:71652827 [GRCh38]
Chr5:70948654 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.637A>G (p.Met213Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001218674] Chr5:71626652 [GRCh38]
Chr5:70922479 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.175C>T (p.Arg59Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001220292] Chr5:71592971 [GRCh38]
Chr5:70888798 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.794T>C (p.Leu265Pro) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001237199] Chr5:71632176 [GRCh38]
Chr5:70928003 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1225G>A (p.Val409Ile) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001155002] Chr5:71649105 [GRCh38]
Chr5:70944932 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*246A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001151205] Chr5:71657106 [GRCh38]
Chr5:70952933 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.512-1G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001207251] Chr5:71604355 [GRCh38]
Chr5:70900182 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.1545G>C (p.Glu515Asp) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001230900]|Methylcrotonyl-CoA carboxylase deficiency [RCV001279177] Chr5:71652725 [GRCh38]
Chr5:70948552 [GRCh37]
Chr5:5q13.2
likely benign|uncertain significance
NM_022132.5(MCCC2):c.*1591A>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001154370] Chr5:71658451 [GRCh38]
Chr5:70954278 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.355A>G (p.Ile119Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001064645] Chr5:71599732 [GRCh38]
Chr5:70895559 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.137A>G (p.Tyr46Cys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001201660] Chr5:71592933 [GRCh38]
Chr5:70888760 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1583A>G (p.Asp528Gly) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001151202] Chr5:71656751 [GRCh38]
Chr5:70952578 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*191A>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001151204] Chr5:71657051 [GRCh38]
Chr5:70952878 [GRCh37]
Chr5:5q13.2
uncertain significance
NC_000005.10:g.(?_71587406)_(71656880_?)del deletion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001033338] Chr5:70883233..70952707 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.1235A>G (p.Glu412Gly) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001156663] Chr5:71649115 [GRCh38]
Chr5:70944942 [GRCh37]
Chr5:5q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_022132.5(MCCC2):c.*773C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001156774] Chr5:71657633 [GRCh38]
Chr5:70953460 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*1539G>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001154369] Chr5:71658399 [GRCh38]
Chr5:70954226 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1124T>C (p.Val375Ala) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001053663]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271405] Chr5:71643870 [GRCh38]
Chr5:70939697 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.913G>T (p.Glu305Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001253022] Chr5:71635160 [GRCh38]
Chr5:70930987 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.1216+2T>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001262588] Chr5:71646279 [GRCh38]
Chr5:70942106 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.438C>T (p.Tyr146=) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001279167] Chr5:71602560 [GRCh38]
Chr5:70898387 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.650C>T (p.Thr217Ile) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002537833]|Methylcrotonyl-CoA carboxylase deficiency [RCV001279168] Chr5:71626665 [GRCh38]
Chr5:70922492 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1665G>T (p.Lys555Asn) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001279180] Chr5:71656833 [GRCh38]
Chr5:70952660 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1553A>G (p.Asn518Ser) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001350209] Chr5:71652733 [GRCh38]
Chr5:70948560 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.884A>G (p.Asn295Ser) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001294936] Chr5:71635023 [GRCh38]
Chr5:70930850 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.129+3A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001312292] Chr5:71587557 [GRCh38]
Chr5:70883384 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1300G>C (p.Val434Leu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001339747]|Methylcrotonyl-CoA carboxylase deficiency [RCV002509666]|not provided [RCV002292631] Chr5:71649180 [GRCh38]
Chr5:70945007 [GRCh37]
Chr5:5q13.2
likely pathogenic|uncertain significance
NM_022132.5(MCCC2):c.1171T>C (p.Cys391Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001300505] Chr5:71646232 [GRCh38]
Chr5:70942059 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.617T>C (p.Ile206Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001307546] Chr5:71604461 [GRCh38]
Chr5:70900288 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1501G>A (p.Asp501Asn) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001334141] Chr5:71652681 [GRCh38]
Chr5:70948508 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1574+7G>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001392512] Chr5:71652761 [GRCh38]
Chr5:70948588 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.196+3A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003120523]|Methylcrotonyl-CoA carboxylase deficiency [RCV001279163] Chr5:71592995 [GRCh38]
Chr5:70888822 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.286C>G (p.Pro96Ala) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001303114] Chr5:71599663 [GRCh38]
Chr5:70895490 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.506A>T (p.Tyr169Phe) single nucleotide variant not provided [RCV001357908] Chr5:71602628 [GRCh38]
Chr5:70898455 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.851T>C (p.Leu284Pro) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001371087] Chr5:71634990 [GRCh38]
Chr5:70930817 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.955G>A (p.Gly319Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001334142] Chr5:71635202 [GRCh38]
Chr5:70931029 [GRCh37]
Chr5:5q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_022132.5(MCCC2):c.385G>A (p.Val129Ile) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001279165] Chr5:71602507 [GRCh38]
Chr5:70898334 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1488+10del deletion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001423314]|Methylcrotonyl-CoA carboxylase deficiency [RCV001279176] Chr5:71650193 [GRCh38]
Chr5:70946020 [GRCh37]
Chr5:5q13.2
likely benign|uncertain significance
NM_022132.5(MCCC2):c.1653A>G (p.Ala551=) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001279179] Chr5:71656821 [GRCh38]
Chr5:70952648 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.258A>G (p.Arg86=) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001279164] Chr5:71596341 [GRCh38]
Chr5:70892168 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1344A>G (p.Gly448=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001434481]|Methylcrotonyl-CoA carboxylase deficiency [RCV001279173] Chr5:71649224 [GRCh38]
Chr5:70945051 [GRCh37]
Chr5:5q13.2
likely benign|uncertain significance
NM_022132.5(MCCC2):c.*6A>G single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001279182] Chr5:71656866 [GRCh38]
Chr5:70952693 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1674del (p.Phe558fs) deletion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001339925] Chr5:71656842 [GRCh38]
Chr5:70952669 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1663A>G (p.Lys555Glu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001309509]|not specified [RCV001844282] Chr5:71656831 [GRCh38]
Chr5:70952658 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.248C>G (p.Pro83Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001320382] Chr5:71596331 [GRCh38]
Chr5:70892158 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1488G>C (p.Gln496His) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001364598] Chr5:71650183 [GRCh38]
Chr5:70946010 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1206A>G (p.Gln402=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002486052]|Methylcrotonyl-CoA carboxylase deficiency [RCV001279172] Chr5:71646267 [GRCh38]
Chr5:70942094 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1120G>A (p.Gly374Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001871562]|Methylcrotonyl-CoA carboxylase deficiency [RCV001279171] Chr5:71643866 [GRCh38]
Chr5:70939693 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1574+5G>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002537834]|Methylcrotonyl-CoA carboxylase deficiency [RCV001279178] Chr5:71652759 [GRCh38]
Chr5:70948586 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.244T>C (p.Leu82=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001394921] Chr5:71596327 [GRCh38]
Chr5:70892154 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1668T>C (p.Thr556=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001469423] Chr5:71656836 [GRCh38]
Chr5:70952663 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1107C>T (p.Ile369=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001499039] Chr5:71643853 [GRCh38]
Chr5:70939680 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1476G>T (p.Arg492=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001440926] Chr5:71650171 [GRCh38]
Chr5:70945998 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.90G>C (p.Ser30=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001492276] Chr5:71587515 [GRCh38]
Chr5:70883342 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.321G>A (p.Gln107=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001499454] Chr5:71599698 [GRCh38]
Chr5:70895525 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.736T>C (p.Leu246=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001490637] Chr5:71626751 [GRCh38]
Chr5:70922578 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1470A>G (p.Arg490=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001475250] Chr5:71650165 [GRCh38]
Chr5:70945992 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.114C>T (p.Gly38=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001417376] Chr5:71587539 [GRCh38]
Chr5:70883366 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.528A>T (p.Ala176=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001462435] Chr5:71604372 [GRCh38]
Chr5:70900199 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1488+9C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001471227] Chr5:71650192 [GRCh38]
Chr5:70946019 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.324A>G (p.Leu108=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001459271] Chr5:71599701 [GRCh38]
Chr5:70895528 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.970_985del (p.Asn324fs) deletion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001388010] Chr5:71635214..71635229 [GRCh38]
Chr5:70931041..70931056 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.803+7C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001503057] Chr5:71632192 [GRCh38]
Chr5:70928019 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1216+8A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001500714] Chr5:71646285 [GRCh38]
Chr5:70942112 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.489C>T (p.Asn163=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001497426] Chr5:71602611 [GRCh38]
Chr5:70898438 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1548A>G (p.Glu516=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001439712] Chr5:71652728 [GRCh38]
Chr5:70948555 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1290C>T (p.Ala430=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001418810] Chr5:71649170 [GRCh38]
Chr5:70944997 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.78C>T (p.Asp26=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001470812] Chr5:71587503 [GRCh38]
Chr5:70883330 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1128C>T (p.Leu376=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001437875] Chr5:71643874 [GRCh38]
Chr5:70939701 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1575-5G>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001400586] Chr5:71656738 [GRCh38]
Chr5:70952565 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1647C>T (p.Leu549=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001438673] Chr5:71656815 [GRCh38]
Chr5:70952642 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.861T>C (p.Thr287=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001440994] Chr5:71635000 [GRCh38]
Chr5:70930827 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.252A>G (p.Arg84=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001403117] Chr5:71596335 [GRCh38]
Chr5:70892162 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.657A>C (p.Gly219=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001411920] Chr5:71626672 [GRCh38]
Chr5:70922499 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1489-111T>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001530428]|not provided [RCV001655810] Chr5:71652558 [GRCh38]
Chr5:70948385 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1575-64A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001530430]|not provided [RCV001673126] Chr5:71656679 [GRCh38]
Chr5:70952506 [GRCh37]
Chr5:5q13.2
benign
NC_000005.9:g.(?_70895466)_(70895607_?)del deletion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001379257] Chr5:70895466..70895607 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.1524C>T (p.Pro508=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001444084] Chr5:71652704 [GRCh38]
Chr5:70948531 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1560C>T (p.Tyr520=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001435800] Chr5:71652740 [GRCh38]
Chr5:70948567 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.592C>T (p.Gln198Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001420154] Chr5:71604436 [GRCh38]
Chr5:70900263 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.1341C>T (p.Ala447=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001410051] Chr5:71649221 [GRCh38]
Chr5:70945048 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1290C>A (p.Ala430=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001399563] Chr5:71649170 [GRCh38]
Chr5:70944997 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.803+9_803+10del deletion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001410187] Chr5:71632193..71632194 [GRCh38]
Chr5:70928020..70928021 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.549T>C (p.Asp183=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001444508] Chr5:71604393 [GRCh38]
Chr5:70900220 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.714C>T (p.Thr238=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001407795] Chr5:71626729 [GRCh38]
Chr5:70922556 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1149+1G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001379035] Chr5:71643896 [GRCh38]
Chr5:70939723 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.823del (p.His275fs) deletion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001385246] Chr5:71634961 [GRCh38]
Chr5:70930788 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.336G>A (p.Glu112=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001445091] Chr5:71599713 [GRCh38]
Chr5:70895540 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.384-8C>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001434835] Chr5:71602498 [GRCh38]
Chr5:70898325 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.318C>A (p.Tyr106Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001386774] Chr5:71599695 [GRCh38]
Chr5:70895522 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.1488+9C>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001429490] Chr5:71650192 [GRCh38]
Chr5:70946019 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.76_77del (p.Asp26fs) deletion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001390486] Chr5:71587501..71587502 [GRCh38]
Chr5:70883328..70883329 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.987T>C (p.Phe329=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001447761] Chr5:71635234 [GRCh38]
Chr5:70931061 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1284T>C (p.Ala428=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001442849] Chr5:71649164 [GRCh38]
Chr5:70944991 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1073-230A>G single nucleotide variant not provided [RCV001535284] Chr5:71643589 [GRCh38]
Chr5:70939416 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.282-9_285del deletion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001378821] Chr5:71599647..71599659 [GRCh38]
Chr5:70895474..70895486 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.1489-16G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001404281] Chr5:71652653 [GRCh38]
Chr5:70948480 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.627C>T (p.Ile209=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001448435] Chr5:71626642 [GRCh38]
Chr5:70922469 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.739-7G>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001427557] Chr5:71632114 [GRCh38]
Chr5:70927941 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1602A>G (p.Pro534=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001461148] Chr5:71656770 [GRCh38]
Chr5:70952597 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.898T>C (p.Leu300=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001494191] Chr5:71635037 [GRCh38]
Chr5:70930864 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.999+190G>A single nucleotide variant not provided [RCV001693284] Chr5:71635436 [GRCh38]
Chr5:70931263 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.738+8C>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001479726] Chr5:71626761 [GRCh38]
Chr5:70922588 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1572A>G (p.Ala524=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001476601] Chr5:71652752 [GRCh38]
Chr5:70948579 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.739-7G>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001452202] Chr5:71632114 [GRCh38]
Chr5:70927941 [GRCh37]
Chr5:5q13.2
likely benign
GRCh37/hg19 5q13.2(chr5:70925030-70953012)x0 copy number loss not provided [RCV001535550] Chr5:70925030..70953012 [GRCh37]
Chr5:5q13.2
not provided
NM_022132.5(MCCC2):c.803+239T>C single nucleotide variant not provided [RCV001691557] Chr5:71632424 [GRCh38]
Chr5:70928251 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.210A>G (p.Lys70=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001487343] Chr5:71596293 [GRCh38]
Chr5:70892120 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1489-4T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001459598] Chr5:71652665 [GRCh38]
Chr5:70948492 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.237A>G (p.Gly79=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001452785] Chr5:71596320 [GRCh38]
Chr5:70892147 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1149+173_1149+178del deletion not provided [RCV001583126] Chr5:71644067..71644072 [GRCh38]
Chr5:70939894..70939899 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.672T>C (p.Pro224=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001489055] Chr5:71626687 [GRCh38]
Chr5:70922514 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.-117A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001530405]|not provided [RCV001655808] Chr5:71587309 [GRCh38]
Chr5:70883136 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.456A>G (p.Lys152=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001474323] Chr5:71602578 [GRCh38]
Chr5:70898405 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.618T>C (p.Ile206=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001438236] Chr5:71604462 [GRCh38]
Chr5:70900289 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1119C>T (p.Asn373=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001500637] Chr5:71643865 [GRCh38]
Chr5:70939692 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.13C>T (p.Leu5=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001402050] Chr5:71587438 [GRCh38]
Chr5:70883265 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.904-4G>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001500817] Chr5:71635147 [GRCh38]
Chr5:70930974 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1452G>A (p.Thr484=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001425621] Chr5:71650147 [GRCh38]
Chr5:70945974 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.822C>T (p.Asp274=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001459300] Chr5:71634961 [GRCh38]
Chr5:70930788 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1549G>A (p.Gly517Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001376966] Chr5:71652729 [GRCh38]
Chr5:70948556 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.1072+9G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001463615] Chr5:71641084 [GRCh38]
Chr5:70936911 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1242A>G (p.Glu414=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001418638] Chr5:71649122 [GRCh38]
Chr5:70944949 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1574+1G>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001379033] Chr5:71652755 [GRCh38]
Chr5:70948582 [GRCh37]
Chr5:5q13.2
likely pathogenic
NC_000005.9:g.(?_70936810)_(70936922_?)del deletion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001386264] Chr5:70936810..70936922 [GRCh37]
Chr5:5q13.2
pathogenic
NC_000005.9:g.(?_70892097)_(70892201_?)del deletion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001386265] Chr5:70892097..70892201 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.1217-19T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003108570] Chr5:71649078 [GRCh38]
Chr5:70944905 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1381T>G (p.Phe461Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002543946]|not provided [RCV001762954] Chr5:71650076 [GRCh38]
Chr5:70945903 [GRCh37]
Chr5:5q13.2
uncertain significance
GRCh37/hg19 5q13.2(chr5:70907495-71054732)x1 copy number loss not provided [RCV001834193] Chr5:70907495..71054732 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.127C>T (p.Gln43Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001783635] Chr5:71587552 [GRCh38]
Chr5:70883379 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.302C>T (p.Ser101Phe) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001782421] Chr5:71599679 [GRCh38]
Chr5:70895506 [GRCh37]
Chr5:5q13.2
likely pathogenic|uncertain significance
NM_022132.5(MCCC2):c.130-72del deletion not provided [RCV001785984] Chr5:71592839 [GRCh38]
Chr5:70888666 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.384-43A>G single nucleotide variant not provided [RCV001799860] Chr5:71602463 [GRCh38]
Chr5:70898290 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1149+137_1149+138insGT insertion not provided [RCV001786271] Chr5:71644032..71644033 [GRCh38]
Chr5:70939859..70939860 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1150-76T>G single nucleotide variant not provided [RCV001779817] Chr5:71646135 [GRCh38]
Chr5:70941962 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.351_353del (p.Gly118del) deletion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001782422] Chr5:71599726..71599728 [GRCh38]
Chr5:70895553..70895555 [GRCh37]
Chr5:5q13.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022132.5(MCCC2):c.1417A>G (p.Met473Val) single nucleotide variant not provided [RCV001758715] Chr5:71650112 [GRCh38]
Chr5:70945939 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1189C>G (p.Pro397Ala) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001971695] Chr5:71646250 [GRCh38]
Chr5:70942077 [GRCh37]
Chr5:5q13.2
likely pathogenic|uncertain significance
NC_000005.9:g.(?_70922447)_(70952687_?)del deletion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001983033] Chr5:70922447..70952687 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.1342G>A (p.Gly448Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001966890] Chr5:71649222 [GRCh38]
Chr5:70945049 [GRCh37]
Chr5:5q13.2
likely pathogenic|conflicting interpretations of pathogenicity
NM_022132.5(MCCC2):c.281+5G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002006480]|not provided [RCV003227057] Chr5:71596369 [GRCh38]
Chr5:70892196 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.738+2dup duplication 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002042826] Chr5:71626754..71626755 [GRCh38]
Chr5:70922581..70922582 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.903+1G>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001986574] Chr5:71635043 [GRCh38]
Chr5:70930870 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.511+1G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002044282] Chr5:71602634 [GRCh38]
Chr5:70898461 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.433T>G (p.Tyr145Asp) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002044291] Chr5:71602555 [GRCh38]
Chr5:70898382 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.383+2del deletion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002007634] Chr5:71599762 [GRCh38]
Chr5:70895589 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.728G>C (p.Gly243Ala) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001889432] Chr5:71626743 [GRCh38]
Chr5:70922570 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1334A>G (p.Tyr445Cys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002023817]|not provided [RCV002284508] Chr5:71649214 [GRCh38]
Chr5:70945041 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.484C>A (p.Gln162Lys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001871317] Chr5:71602606 [GRCh38]
Chr5:70898433 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.129+1G>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002003115] Chr5:71587555 [GRCh38]
Chr5:70883382 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.1154C>G (p.Thr385Ser) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001927701] Chr5:71646215 [GRCh38]
Chr5:70942042 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1000-2A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002006612] Chr5:71641001 [GRCh38]
Chr5:70936828 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.533T>G (p.Leu178Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001946682] Chr5:71604377 [GRCh38]
Chr5:70900204 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.197-9C>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001985829] Chr5:71596271 [GRCh38]
Chr5:70892098 [GRCh37]
Chr5:5q13.2
uncertain significance
NC_000005.9:g.(?_70927938)_(70931083_?)del deletion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001946965] Chr5:70927938..70931083 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.624+128del deletion not provided [RCV001840840] Chr5:71604583 [GRCh38]
Chr5:70900410 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1688T>C (p.Met563Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001967398] Chr5:71656856 [GRCh38]
Chr5:70952683 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.311C>T (p.Ala104Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002003807] Chr5:71599688 [GRCh38]
Chr5:70895515 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1208A>G (p.Asn403Ser) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002003162]|not provided [RCV003227056] Chr5:71646269 [GRCh38]
Chr5:70942096 [GRCh37]
Chr5:5q13.2
pathogenic|likely pathogenic
GRCh37/hg19 5q13.2(chr5:70613836-71265263)x3 copy number gain not provided [RCV001836547] Chr5:70613836..71265263 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1623G>T (p.Leu541Phe) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001881730] Chr5:71656791 [GRCh38]
Chr5:70952618 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.986T>C (p.Phe329Ser) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001942662] Chr5:71635233 [GRCh38]
Chr5:70931060 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.230C>G (p.Ser77Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001954556] Chr5:71596313 [GRCh38]
Chr5:70892140 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.691A>T (p.Ile231Phe) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002031053] Chr5:71626706 [GRCh38]
Chr5:70922533 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.1144_1147inv (p.Lys382_Lys383delinsPheTer) inversion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001896978] Chr5:71643890..71643893 [GRCh38]
Chr5:70939717..70939720 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.802A>G (p.Arg268Gly) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001934248] Chr5:71632184 [GRCh38]
Chr5:70928011 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.98C>T (p.Thr33Ile) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001904852] Chr5:71587523 [GRCh38]
Chr5:70883350 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.689del (p.Asn230fs) deletion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001941553] Chr5:71626701 [GRCh38]
Chr5:70922528 [GRCh37]
Chr5:5q13.2
pathogenic|likely pathogenic
NM_022132.5(MCCC2):c.418G>A (p.Val140Ile) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001990561] Chr5:71602540 [GRCh38]
Chr5:70898367 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.342del (p.Pro115fs) deletion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001882224] Chr5:71599719 [GRCh38]
Chr5:70895546 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.973C>T (p.Leu325Phe) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001878872] Chr5:71635220 [GRCh38]
Chr5:70931047 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1149+1G>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002031069] Chr5:71643896 [GRCh38]
Chr5:70939723 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.384-2A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002031040] Chr5:71602504 [GRCh38]
Chr5:70898331 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.586T>C (p.Tyr196His) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002050980] Chr5:71604430 [GRCh38]
Chr5:70900257 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.904-5T>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001876865] Chr5:71635146 [GRCh38]
Chr5:70930973 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1308_1318del (p.Lys436fs) deletion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001898703] Chr5:71649187..71649197 [GRCh38]
Chr5:70945014..70945024 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.1488+1G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002011249] Chr5:71650184 [GRCh38]
Chr5:70946011 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.739-2A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002028002] Chr5:71632119 [GRCh38]
Chr5:70927946 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.1672T>C (p.Phe558Leu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001878537] Chr5:71656840 [GRCh38]
Chr5:70952667 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1667C>T (p.Thr556Ile) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001998721] Chr5:71656835 [GRCh38]
Chr5:70952662 [GRCh37]
Chr5:5q13.2
likely pathogenic
NC_000005.9:g.(?_70898323)_(70928022_?)del deletion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001975178] Chr5:70898323..70928022 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.1388A>G (p.Tyr463Cys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001977668] Chr5:71650083 [GRCh38]
Chr5:70945910 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.328G>A (p.Asp110Asn) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002018835] Chr5:71599705 [GRCh38]
Chr5:70895532 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.282-8C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001993866] Chr5:71599651 [GRCh38]
Chr5:70895478 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1430A>G (p.Gln477Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002031082] Chr5:71650125 [GRCh38]
Chr5:70945952 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.437A>G (p.Tyr146Cys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001898310] Chr5:71602559 [GRCh38]
Chr5:70898386 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1373+2T>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001990333] Chr5:71649255 [GRCh38]
Chr5:70945082 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.567C>A (p.Asp189Glu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001933136] Chr5:71604411 [GRCh38]
Chr5:70900238 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1054G>A (p.Gly352Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002027785] Chr5:71641057 [GRCh38]
Chr5:70936884 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.700C>T (p.Arg234Cys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002029528]|Inborn genetic diseases [RCV003269100] Chr5:71626715 [GRCh38]
Chr5:70922542 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1546_1547insGGCCGGGCGCGGGGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCGGGAGATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGTTTGAAGAGG (p.Glu515_Glu516insGlyProGlyAlaGlyAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleThrArgSerGlyAspXaaXaaXaaXaaLysLysLysLysLysLysLysLysPheGluGlu) microsatellite 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001952719] Chr5:71652710..71652711 [GRCh38]
Chr5:70948537..70948538 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.1590_1591delinsTT (p.Ile531Phe) indel 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002033990] Chr5:71656758..71656759 [GRCh38]
Chr5:70952585..70952586 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.479C>G (p.Ala160Gly) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002019428] Chr5:71602601 [GRCh38]
Chr5:70898428 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.624+13G>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001997911] Chr5:71604481 [GRCh38]
Chr5:70900308 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1082G>A (p.Arg361Gln) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001960389] Chr5:71643828 [GRCh38]
Chr5:70939655 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1570G>C (p.Ala524Pro) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001940016] Chr5:71652750 [GRCh38]
Chr5:70948577 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.693C>G (p.Ile231Met) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001991917] Chr5:71626708 [GRCh38]
Chr5:70922535 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.619G>T (p.Ala207Ser) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001900879] Chr5:71604463 [GRCh38]
Chr5:70900290 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.811G>A (p.Gly271Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002031833] Chr5:71634950 [GRCh38]
Chr5:70930777 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.147G>C (p.Met49Ile) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001900127] Chr5:71592943 [GRCh38]
Chr5:70888770 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1178A>C (p.Gln393Pro) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001937758] Chr5:71646239 [GRCh38]
Chr5:70942066 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.598A>G (p.Ile200Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001918931] Chr5:71604442 [GRCh38]
Chr5:70900269 [GRCh37]
Chr5:5q13.2
uncertain significance
NC_000005.9:g.(?_70922457)_(70922590_?)del deletion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV001958746] Chr5:70922457..70922590 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.1285G>C (p.Val429Leu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002017112] Chr5:71649165 [GRCh38]
Chr5:70944992 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.765A>G (p.Val255=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002108582] Chr5:71632147 [GRCh38]
Chr5:70927974 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.903+8C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002105997] Chr5:71635050 [GRCh38]
Chr5:70930877 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.540A>G (p.Arg180=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002147805] Chr5:71604384 [GRCh38]
Chr5:70900211 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.105G>A (p.Pro35=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002071496] Chr5:71587530 [GRCh38]
Chr5:70883357 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.651C>T (p.Thr217=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002205335] Chr5:71626666 [GRCh38]
Chr5:70922493 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1216+10T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002091773] Chr5:71646287 [GRCh38]
Chr5:70942114 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.219A>C (p.Ala73=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002111739] Chr5:71596302 [GRCh38]
Chr5:70892129 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.512-14T>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002185776] Chr5:71604342 [GRCh38]
Chr5:70900169 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.90G>A (p.Ser30=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002109045] Chr5:71587515 [GRCh38]
Chr5:70883342 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.663C>T (p.Ala221=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002188275] Chr5:71626678 [GRCh38]
Chr5:70922505 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1173C>T (p.Cys391=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002187427] Chr5:71646234 [GRCh38]
Chr5:70942061 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1217-10T>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002165711] Chr5:71649087 [GRCh38]
Chr5:70944914 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.903+9G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002167623] Chr5:71635051 [GRCh38]
Chr5:70930878 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.196+20C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002126668] Chr5:71593012 [GRCh38]
Chr5:70888839 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1195C>T (p.Leu399=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002080061] Chr5:71646256 [GRCh38]
Chr5:70942083 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.708G>A (p.Gln236=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002134932] Chr5:71626723 [GRCh38]
Chr5:70922550 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.960A>C (p.Ile320=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002212675] Chr5:71635207 [GRCh38]
Chr5:70931034 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.246G>A (p.Leu82=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002091262] Chr5:71596329 [GRCh38]
Chr5:70892156 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.25C>T (p.Leu9=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002133993] Chr5:71587450 [GRCh38]
Chr5:70883277 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.729A>C (p.Gly243=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002172394] Chr5:71626744 [GRCh38]
Chr5:70922571 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.72C>T (p.His24=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002115581] Chr5:71587497 [GRCh38]
Chr5:70883324 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.383+17T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002192269] Chr5:71599777 [GRCh38]
Chr5:70895604 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.699A>G (p.Val233=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002130915] Chr5:71626714 [GRCh38]
Chr5:70922541 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.999+8A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002096454] Chr5:71635254 [GRCh38]
Chr5:70931081 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.624+10C>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002212639] Chr5:71604478 [GRCh38]
Chr5:70900305 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.753T>C (p.Thr251=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002173848] Chr5:71632135 [GRCh38]
Chr5:70927962 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1014C>A (p.Ile338=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002187985] Chr5:71641017 [GRCh38]
Chr5:70936844 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.726A>G (p.Ala242=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002212998] Chr5:71626741 [GRCh38]
Chr5:70922568 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.537T>A (p.Pro179=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002199473] Chr5:71604381 [GRCh38]
Chr5:70900208 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1545G>A (p.Glu515=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002157682] Chr5:71652725 [GRCh38]
Chr5:70948552 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.51C>G (p.Pro17=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002216586] Chr5:71587476 [GRCh38]
Chr5:70883303 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1629C>T (p.Leu543=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002179816] Chr5:71656797 [GRCh38]
Chr5:70952624 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.786T>G (p.Gly262=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002217278] Chr5:71632168 [GRCh38]
Chr5:70927995 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.804-10T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002183911] Chr5:71634933 [GRCh38]
Chr5:70930760 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1269C>T (p.Ala423=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002155295] Chr5:71649149 [GRCh38]
Chr5:70944976 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.282-9T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002220515] Chr5:71599650 [GRCh38]
Chr5:70895477 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.879T>C (p.Asn293=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002102460] Chr5:71635018 [GRCh38]
Chr5:70930845 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.384-9G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002154721] Chr5:71602497 [GRCh38]
Chr5:70898324 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1056A>C (p.Gly352=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002138601] Chr5:71641059 [GRCh38]
Chr5:70936886 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1500T>C (p.Ala500=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002175307] Chr5:71652680 [GRCh38]
Chr5:70948507 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.738+16C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002183098] Chr5:71626769 [GRCh38]
Chr5:70922596 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.999+16A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002183697] Chr5:71635262 [GRCh38]
Chr5:70931089 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1650C>T (p.Asn550=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002158451] Chr5:71656818 [GRCh38]
Chr5:70952645 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1575-10C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002120882] Chr5:71656733 [GRCh38]
Chr5:70952560 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.384-10T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003112841] Chr5:71602496 [GRCh38]
Chr5:70898323 [GRCh37]
Chr5:5q13.2
likely benign
NC_000005.9:g.(?_70898323)_(70900305_?)del deletion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003111468] Chr5:70898323..70900305 [GRCh37]
Chr5:5q13.2
pathogenic
NC_000005.9:g.(?_70808992)_(70952687_?)dup duplication 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003111469] Chr5:70808992..70952687 [GRCh37]
Chr5:5q13.2
uncertain significance
NC_000005.9:g.(?_70930773)_(70930871_?)del deletion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003111470] Chr5:70930773..70930871 [GRCh37]
Chr5:5q13.2
pathogenic
NC_000005.9:g.(?_70892087)_(70892211_?)del deletion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003111471] Chr5:70892087..70892211 [GRCh37]
Chr5:5q13.2
pathogenic
NC_000005.9:g.(?_70895476)_(70900305_?)dup duplication 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003111472] Chr5:70895476..70900305 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.1122A>G (p.Gly374=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003121405] Chr5:71643868 [GRCh38]
Chr5:70939695 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.760G>T (p.Glu254Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003121443] Chr5:71632142 [GRCh38]
Chr5:70927969 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.270C>G (p.Leu90=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003121707] Chr5:71596353 [GRCh38]
Chr5:70892180 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1642G>A (p.Ala548Thr) single nucleotide variant not provided [RCV003156445] Chr5:71656810 [GRCh38]
Chr5:70952637 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.284C>T (p.Ser95Phe) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003131559] Chr5:71599661 [GRCh38]
Chr5:70895488 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.848C>T (p.Ala283Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003131560] Chr5:71634987 [GRCh38]
Chr5:70930814 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1493C>T (p.Ser498Phe) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003097750]|Inborn genetic diseases [RCV003101659]|not provided [RCV002288082] Chr5:71652673 [GRCh38]
Chr5:70948500 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.804-1G>C single nucleotide variant not provided [RCV002271354] Chr5:71634942 [GRCh38]
Chr5:70930769 [GRCh37]
Chr5:5q13.2
not provided
NM_022132.5(MCCC2):c.314del (p.Gly105fs) deletion Methylcrotonyl-CoA carboxylase deficiency [RCV002283366] Chr5:71599690 [GRCh38]
Chr5:70895517 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.176G>A (p.Arg59Gln) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002286462] Chr5:71592972 [GRCh38]
Chr5:70888799 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1570G>A (p.Ala524Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003096363]|not specified [RCV002283420] Chr5:71652750 [GRCh38]
Chr5:70948577 [GRCh37]
Chr5:5q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_022132.5(MCCC2):c.1440T>G (p.Asn480Lys) single nucleotide variant Inborn genetic diseases [RCV003257205] Chr5:71650135 [GRCh38]
Chr5:70945962 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1073-27T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002466895] Chr5:71643792 [GRCh38]
Chr5:70939619 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.803+6A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002727034] Chr5:71632191 [GRCh38]
Chr5:70928018 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.103C>A (p.Pro35Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002304505] Chr5:71587528 [GRCh38]
Chr5:70883355 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1670A>C (p.Asp557Ala) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002295414] Chr5:71656838 [GRCh38]
Chr5:70952665 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1575-15T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002726475] Chr5:71656728 [GRCh38]
Chr5:70952555 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.152C>T (p.Ala51Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002681752] Chr5:71592948 [GRCh38]
Chr5:70888775 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.530A>G (p.Tyr177Cys) single nucleotide variant Inborn genetic diseases [RCV002751958] Chr5:71604374 [GRCh38]
Chr5:70900201 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.335AGG[1] (p.Glu113del) microsatellite 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003073541] Chr5:71599711..71599713 [GRCh38]
Chr5:70895538..70895540 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1441G>T (p.Val481Leu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002880554] Chr5:71650136 [GRCh38]
Chr5:70945963 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.448G>A (p.Val150Met) single nucleotide variant Inborn genetic diseases [RCV002836807] Chr5:71602570 [GRCh38]
Chr5:70898397 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.197-7A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002858419] Chr5:71596273 [GRCh38]
Chr5:70892100 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.123C>T (p.Leu41=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003075797] Chr5:71587548 [GRCh38]
Chr5:70883375 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1601C>G (p.Pro534Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002861564] Chr5:71656769 [GRCh38]
Chr5:70952596 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1100T>C (p.Val367Ala) single nucleotide variant Inborn genetic diseases [RCV002685202] Chr5:71643846 [GRCh38]
Chr5:70939673 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.504C>A (p.Ile168=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002794773] Chr5:71602626 [GRCh38]
Chr5:70898453 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.457C>A (p.Gln153Lys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002842743] Chr5:71602579 [GRCh38]
Chr5:70898406 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.904-19A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002615717] Chr5:71635132 [GRCh38]
Chr5:70930959 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.435C>T (p.Tyr145=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002615141] Chr5:71602557 [GRCh38]
Chr5:70898384 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1458A>G (p.Thr486=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002730904] Chr5:71650153 [GRCh38]
Chr5:70945980 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.861T>A (p.Thr287=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002971220] Chr5:71635000 [GRCh38]
Chr5:70930827 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.60G>C (p.Pro20=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002843495] Chr5:71587485 [GRCh38]
Chr5:70883312 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.45C>T (p.Ala15=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002816560] Chr5:71587470 [GRCh38]
Chr5:70883297 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.354C>G (p.Gly118=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002617637] Chr5:71599731 [GRCh38]
Chr5:70895558 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.281+10T>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002785282] Chr5:71596374 [GRCh38]
Chr5:70892201 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1304C>G (p.Pro435Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002690899] Chr5:71649184 [GRCh38]
Chr5:70945011 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.882A>G (p.Leu294=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002638451] Chr5:71635021 [GRCh38]
Chr5:70930848 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1574+3G>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003055799] Chr5:71652757 [GRCh38]
Chr5:70948584 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.793C>G (p.Leu265Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003081611] Chr5:71632175 [GRCh38]
Chr5:70928002 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1471G>A (p.Ala491Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002696213] Chr5:71650166 [GRCh38]
Chr5:70945993 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.663C>A (p.Ala221=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002867053] Chr5:71626678 [GRCh38]
Chr5:70922505 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1488+11T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002867217] Chr5:71650194 [GRCh38]
Chr5:70946021 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1651G>A (p.Ala551Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002619486] Chr5:71656819 [GRCh38]
Chr5:70952646 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.332A>G (p.Asn111Ser) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003078479] Chr5:71599709 [GRCh38]
Chr5:70895536 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1073-9T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003078462] Chr5:71643810 [GRCh38]
Chr5:70939637 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1150-1G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003079060] Chr5:71646210 [GRCh38]
Chr5:70942037 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.1657dup (p.Ile553fs) duplication 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002662587] Chr5:71656823..71656824 [GRCh38]
Chr5:70952650..70952651 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.96C>T (p.Gly32=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003080939] Chr5:71587521 [GRCh38]
Chr5:70883348 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.54C>T (p.Ala18=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003018761] Chr5:71587479 [GRCh38]
Chr5:70883306 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1638T>C (p.Ser546=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002866357] Chr5:71656806 [GRCh38]
Chr5:70952633 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.803+4A>G single nucleotide variant Inborn genetic diseases [RCV002783034] Chr5:71632189 [GRCh38]
Chr5:70928016 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1574+7dup duplication 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003080238] Chr5:71652756..71652757 [GRCh38]
Chr5:70948583..70948584 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1489-5T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002870909] Chr5:71652664 [GRCh38]
Chr5:70948491 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.652G>T (p.Ala218Ser) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003018458] Chr5:71626667 [GRCh38]
Chr5:70922494 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.1127T>C (p.Leu376Pro) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003078049] Chr5:71643873 [GRCh38]
Chr5:70939700 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.1489-3T>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003043076] Chr5:71652666 [GRCh38]
Chr5:70948493 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.748G>A (p.Ala250Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003058074] Chr5:71632130 [GRCh38]
Chr5:70927957 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.170A>G (p.His57Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002766903] Chr5:71592966 [GRCh38]
Chr5:70888793 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.560A>G (p.Asp187Gly) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002932517] Chr5:71604404 [GRCh38]
Chr5:70900231 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1366G>C (p.Ala456Pro) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003059079] Chr5:71649246 [GRCh38]
Chr5:70945073 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.264C>T (p.Asp88=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003082956] Chr5:71596347 [GRCh38]
Chr5:70892174 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.739-9T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003040956] Chr5:71632112 [GRCh38]
Chr5:70927939 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.340G>A (p.Val114Met) single nucleotide variant Inborn genetic diseases [RCV002954968] Chr5:71599717 [GRCh38]
Chr5:70895544 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.416C>T (p.Thr139Ile) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002640731] Chr5:71602538 [GRCh38]
Chr5:70898365 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.38C>G (p.Ala13Gly) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003057475] Chr5:71587463 [GRCh38]
Chr5:70883290 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.738+6A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002852799] Chr5:71626759 [GRCh38]
Chr5:70922586 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.468C>T (p.Ala156=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002766894] Chr5:71602590 [GRCh38]
Chr5:70898417 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1208A>C (p.Asn403Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002624342] Chr5:71646269 [GRCh38]
Chr5:70942096 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.1676G>A (p.Gly559Asp) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002640732] Chr5:71656844 [GRCh38]
Chr5:70952671 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.659G>A (p.Gly220Glu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002664367] Chr5:71626674 [GRCh38]
Chr5:70922501 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.1371T>A (p.Tyr457Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002765693] Chr5:71649251 [GRCh38]
Chr5:70945078 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.68A>C (p.Tyr23Ser) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003067403]|Inborn genetic diseases [RCV003083339] Chr5:71587493 [GRCh38]
Chr5:70883320 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.984C>A (p.Ser328Arg) single nucleotide variant Inborn genetic diseases [RCV002931105] Chr5:71635231 [GRCh38]
Chr5:70931058 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1338A>T (p.Gly446=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003065223] Chr5:71649218 [GRCh38]
Chr5:70945045 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.583T>C (p.Phe195Leu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003046240] Chr5:71604427 [GRCh38]
Chr5:70900254 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.544G>A (p.Ala182Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003030676] Chr5:71604388 [GRCh38]
Chr5:70900215 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1137A>G (p.Glu379=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002770625] Chr5:71643883 [GRCh38]
Chr5:70939710 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1150-4A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002807288] Chr5:71646207 [GRCh38]
Chr5:70942034 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.552G>A (p.Val184=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002632249] Chr5:71604396 [GRCh38]
Chr5:70900223 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.281+4C>T single nucleotide variant Inborn genetic diseases [RCV002713852] Chr5:71596368 [GRCh38]
Chr5:70892195 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.396G>A (p.Met132Ile) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002651439] Chr5:71602518 [GRCh38]
Chr5:70898345 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.738+2T>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002962073] Chr5:71626755 [GRCh38]
Chr5:70922582 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.566A>G (p.Asp189Gly) single nucleotide variant Inborn genetic diseases [RCV002898443] Chr5:71604410 [GRCh38]
Chr5:70900237 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.57G>C (p.Gly19=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003028358] Chr5:71587482 [GRCh38]
Chr5:70883309 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1197G>C (p.Leu399=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002937388] Chr5:71646258 [GRCh38]
Chr5:70942085 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.703A>G (p.Lys235Glu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003060718] Chr5:71626718 [GRCh38]
Chr5:70922545 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1489-10T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003028840] Chr5:71652659 [GRCh38]
Chr5:70948486 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1192C>G (p.Leu398Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003047466] Chr5:71646253 [GRCh38]
Chr5:70942080 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1350T>A (p.Tyr450Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003060779] Chr5:71649230 [GRCh38]
Chr5:70945057 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.1072+17T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002598636] Chr5:71641092 [GRCh38]
Chr5:70936919 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.519G>A (p.Ser173=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003060794] Chr5:71604363 [GRCh38]
Chr5:70900190 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.467C>T (p.Ala156Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002715609] Chr5:71602589 [GRCh38]
Chr5:70898416 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.632T>G (p.Val211Gly) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003059950]|not provided [RCV003059951] Chr5:71626647 [GRCh38]
Chr5:70922474 [GRCh37]
Chr5:5q13.2
likely pathogenic|uncertain significance
NM_022132.5(MCCC2):c.365G>A (p.Gly122Asp) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002966863] Chr5:71599742 [GRCh38]
Chr5:70895569 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1234del (p.Glu412fs) deletion 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002649877] Chr5:71649114 [GRCh38]
Chr5:70944941 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.1268C>A (p.Ala423Asp) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003093746] Chr5:71649148 [GRCh38]
Chr5:70944975 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.422A>G (p.Lys141Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003067170]|Inborn genetic diseases [RCV003294438] Chr5:71602544 [GRCh38]
Chr5:70898371 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.738+17G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003071419] Chr5:71626770 [GRCh38]
Chr5:70922597 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.104C>T (p.Pro35Leu) single nucleotide variant Inborn genetic diseases [RCV002679882] Chr5:71587529 [GRCh38]
Chr5:70883356 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1626T>C (p.Gly542=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002654760] Chr5:71656794 [GRCh38]
Chr5:70952621 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1200C>T (p.Phe400=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV003073482] Chr5:71646261 [GRCh38]
Chr5:70942088 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.888T>C (p.Tyr296=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002609314] Chr5:71635027 [GRCh38]
Chr5:70930854 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1153A>G (p.Thr385Ala) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 2 deficiency [RCV002606637] Chr5:71646214 [GRCh38]
Chr5:70942041 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1072+1G>A single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV003155781] Chr5:71641076 [GRCh38]
Chr5:70936903 [GRCh37]
Chr5:5q13.2
likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2095
Count of miRNA genes:1002
Interacting mature miRNAs:1209
Transcripts:ENST00000323375, ENST00000340941, ENST00000505435, ENST00000505787, ENST00000507169, ENST00000509358, ENST00000509539, ENST00000510895, ENST00000512218
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH93252  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37570,952,697 - 70,952,783UniSTSGRCh37
Build 36570,988,453 - 70,988,539RGDNCBI36
Celera566,848,395 - 66,848,481RGD
Cytogenetic Map5q12-q13UniSTS
HuRef566,158,693 - 66,158,779UniSTS
GeneMap99-GB4 RH Map5350.64UniSTS
SHGC-58479  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37570,938,440 - 70,938,615UniSTSGRCh37
Build 36570,974,196 - 70,974,371RGDNCBI36
Celera566,834,134 - 66,834,309RGD
Cytogenetic Map5q12-q13UniSTS
HuRef566,144,286 - 66,144,461UniSTS
RH119130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37570,947,975 - 70,948,257UniSTSGRCh37
Build 36570,983,731 - 70,984,013RGDNCBI36
Celera566,843,674 - 66,843,956RGD
Cytogenetic Map5q12-q13UniSTS
HuRef566,153,826 - 66,154,108UniSTS
D5S2198E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37570,912,529 - 70,912,635UniSTSGRCh37
Build 36570,948,285 - 70,948,391RGDNCBI36
Celera566,808,275 - 66,808,381RGD
Cytogenetic Map5q12-q13UniSTS
HuRef566,118,402 - 66,118,508UniSTS
G09869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37570,925,490 - 70,925,647UniSTSGRCh37
Build 36570,961,246 - 70,961,403RGDNCBI36
Celera566,821,204 - 66,821,355RGD
Cytogenetic Map5q12-q13UniSTS
HuRef566,131,331 - 66,131,488UniSTS
SHGC-34463  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37570,953,094 - 70,953,225UniSTSGRCh37
Build 36570,988,850 - 70,988,981RGDNCBI36
Celera566,848,792 - 66,848,923RGD
Cytogenetic Map5q12-q13UniSTS
HuRef566,159,090 - 66,159,221UniSTS
Stanford-G3 RH Map52534.0UniSTS
GeneMap99-GB4 RH Map5352.98UniSTS
Whitehead-RH Map5249.6UniSTS
GeneMap99-G3 RH Map52529.0UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS
MCCC2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37570,930,827 - 70,931,042UniSTSGRCh37
Celera566,826,522 - 66,826,737UniSTS
HuRef566,136,674 - 66,136,889UniSTS


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 2166 1925 1705 620 1172 462 4198 1859 2336 404 1376 1528 172 1155 2637 3 1
Low 273 1051 21 4 764 3 159 338 1398 15 84 85 3 1 49 151 3 1
Below cutoff 15 15

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001742172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB050049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB050050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC138832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC143336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF261884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF301000 (Get FASTA)