MCCC1 (methylcrotonyl-CoA carboxylase subunit 1) - Rat Genome Database

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Gene: MCCC1 (methylcrotonyl-CoA carboxylase subunit 1) Homo sapiens
Analyze
Symbol: MCCC1
Name: methylcrotonyl-CoA carboxylase subunit 1
RGD ID: 1321620
HGNC Page HGNC:6936
Description: Contributes to methylcrotonoyl-CoA carboxylase activity. Predicted to be involved in L-leucine catabolic process. Located in mitochondrial matrix. Part of methylcrotonoyl-CoA carboxylase complex. Implicated in 3-methylcrotonyl-CoA carboxylase 1 deficiency.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 3-methylcrotonyl-CoA carboxylase 1; 3-methylcrotonyl-CoA carboxylase biotin-containing subunit; 3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha; DKFZp686B20267; FLJ25545; MCC-B; MCCA; MCCase subunit alpha; MCCCalpha; methylcrotonoyl-CoA carboxylase 1; methylcrotonoyl-CoA carboxylase 1 (alpha); methylcrotonoyl-CoA carboxylase alpha; methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial; methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383183,015,218 - 183,116,196 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3183,015,218 - 183,116,075 (-)EnsemblGRCh38hg38GRCh38
GRCh373182,733,006 - 182,817,375 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363184,215,700 - 184,300,059 (-)NCBINCBI36Build 36hg18NCBI36
Build 343184,215,709 - 184,300,062NCBI
Celera3181,167,501 - 181,251,735 (-)NCBICelera
Cytogenetic Map3q27.1NCBI
HuRef3180,137,627 - 180,222,143 (-)NCBIHuRef
CHM1_13182,695,925 - 182,780,289 (-)NCBICHM1_1
T2T-CHM13v2.03185,820,313 - 185,922,411 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (TAS)
methylcrotonoyl-CoA carboxylase complex  (IDA,IPI,NAS,TAS)
mitochondrial matrix  (IDA,IEA,NAS,TAS)
mitochondrion  (HTP,IBA,IDA,IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1517917   PMID:11170888   PMID:11181649   PMID:11401427   PMID:11406611   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16010683   PMID:16023992   PMID:16344560   PMID:17360195  
PMID:17968484   PMID:18029348   PMID:19339287   PMID:19706617   PMID:19759019   PMID:20379614   PMID:20877624   PMID:21071250   PMID:21145461   PMID:21292315   PMID:21532586   PMID:21642987  
PMID:21738487   PMID:21873635   PMID:22150417   PMID:22189597   PMID:22264772   PMID:22869039   PMID:22939629   PMID:23496138   PMID:24078573   PMID:24457600   PMID:24755837   PMID:24816252  
PMID:24981860   PMID:25064009   PMID:25147182   PMID:25315684   PMID:25382614   PMID:25921289   PMID:26186194   PMID:26264872   PMID:26344197   PMID:26362536   PMID:26725010   PMID:26871637  
PMID:26914237   PMID:27182664   PMID:27499296   PMID:27601257   PMID:27629939   PMID:28514442   PMID:28718761   PMID:28973437   PMID:29467282   PMID:29509794   PMID:29568061   PMID:30021884  
PMID:30349055   PMID:30397336   PMID:30463901   PMID:30575818   PMID:30669930   PMID:30737378   PMID:30804502   PMID:30833792   PMID:30979931   PMID:30997501   PMID:31091453   PMID:31152661  
PMID:31324722   PMID:31452512   PMID:31536960   PMID:31730530   PMID:31862882   PMID:31901042   PMID:31995728   PMID:32203420   PMID:32529326   PMID:32652860   PMID:32687490   PMID:33067418  
PMID:33111431   PMID:33417871   PMID:33559030   PMID:33729478   PMID:33916271   PMID:33961781   PMID:34011540   PMID:34349018   PMID:34597346   PMID:34638806   PMID:34709266   PMID:34795231  
PMID:34800366   PMID:35122331   PMID:35140242   PMID:35198878   PMID:35241646   PMID:35256949   PMID:35654790   PMID:35831314   PMID:35844135   PMID:35944360   PMID:36095012   PMID:36114006  
PMID:36215168   PMID:36232890   PMID:36252997   PMID:36282215   PMID:36373674   PMID:36398662   PMID:36424410   PMID:36688959   PMID:36762613   PMID:36931259   PMID:37059091   PMID:37689310  
PMID:37805164   PMID:37827155   PMID:38580884  


Genomics

Comparative Map Data
MCCC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383183,015,218 - 183,116,196 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3183,015,218 - 183,116,075 (-)EnsemblGRCh38hg38GRCh38
GRCh373182,733,006 - 182,817,375 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363184,215,700 - 184,300,059 (-)NCBINCBI36Build 36hg18NCBI36
Build 343184,215,709 - 184,300,062NCBI
Celera3181,167,501 - 181,251,735 (-)NCBICelera
Cytogenetic Map3q27.1NCBI
HuRef3180,137,627 - 180,222,143 (-)NCBIHuRef
CHM1_13182,695,925 - 182,780,289 (-)NCBICHM1_1
T2T-CHM13v2.03185,820,313 - 185,922,411 (-)NCBIT2T-CHM13v2.0
Mccc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39336,009,584 - 36,054,843 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl336,013,461 - 36,054,827 (-)EnsemblGRCm39 Ensembl
GRCm38335,956,292 - 36,000,694 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl335,959,312 - 36,000,678 (-)EnsemblGRCm38mm10GRCm38
MGSCv37335,858,218 - 35,899,600 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36336,151,385 - 36,192,188 (-)NCBIMGSCv36mm8
MGSCv36335,827,354 - 35,868,158 (-)NCBIMGSCv36mm8
Celera335,846,334 - 35,883,101 (-)NCBICelera
Cytogenetic Map3BNCBI
cM Map317.41NCBI
Mccc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82120,727,313 - 120,779,334 (-)NCBIGRCr8
mRatBN7.22118,799,147 - 118,851,181 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2118,799,150 - 118,851,222 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2125,352,210 - 125,404,078 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02123,464,896 - 123,516,764 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02118,093,657 - 118,145,531 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02122,550,777 - 122,690,540 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2122,550,775 - 122,690,617 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02142,300,575 - 142,317,803 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.02142,186,426 - 142,203,853 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42122,416,660 - 122,469,557 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12122,361,622 - 122,414,519 (-)NCBI
Celera2113,761,210 - 113,811,967 (-)NCBICelera
Cytogenetic Map2q25NCBI
Mccc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542011,781,104 - 11,820,338 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542011,781,662 - 11,828,060 (-)NCBIChiLan1.0ChiLan1.0
MCCC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22180,881,195 - 180,965,639 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13180,885,910 - 180,970,354 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03180,045,592 - 180,129,988 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13188,217,186 - 188,300,284 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3188,217,186 - 188,300,284 (-)Ensemblpanpan1.1panPan2
MCCC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13416,022,493 - 16,084,346 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3416,022,499 - 16,084,387 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3420,111,194 - 20,173,075 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03415,929,888 - 15,991,791 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3415,929,684 - 15,991,778 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13415,970,787 - 16,032,643 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03415,951,431 - 16,016,266 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03416,194,344 - 16,256,270 (-)NCBIUU_Cfam_GSD_1.0
Mccc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602112,751,848 - 112,811,180 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936566409,462 - 469,225 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936566409,558 - 468,898 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MCCC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13120,915,730 - 121,106,395 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113120,983,226 - 121,070,695 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213130,222,439 - 130,308,733 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MCCC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1156,318,788 - 6,400,539 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl156,318,791 - 6,401,849 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606315,121,745 - 15,202,856 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mccc1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473060,749,896 - 60,803,235 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473060,749,678 - 60,803,091 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MCCC1
724 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000524927]|Methylcrotonyl-CoA carboxylase deficiency [RCV001275508] Chr3:183041573 [GRCh38]
Chr3:182759361 [GRCh37]
Chr3:3q27.1
conflicting interpretations of pathogenicity|uncertain significance
NM_020166.5(MCCC1):c.130_131delinsTT (p.Ala44Phe) indel 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000530709]|Inborn genetic diseases [RCV002526734]|not provided [RCV002275089] Chr3:183094564..183094565 [GRCh38]
Chr3:182812352..182812353 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.987_988del (p.His329fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000527269] Chr3:183045508..183045509 [GRCh38]
Chr3:182763296..182763297 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1682-3A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002525116]|not provided [RCV000520630] Chr3:183025807 [GRCh38]
Chr3:182743595 [GRCh37]
Chr3:3q27.1
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_020166.5(MCCC1):c.1819_1832del (p.Ser607fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000543528] Chr3:183022454..183022467 [GRCh38]
Chr3:182740242..182740255 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.639+2T>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000532293]|Methylcrotonyl-CoA carboxylase deficiency [RCV001275517] Chr3:183071208 [GRCh38]
Chr3:182788996 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1614G>T (p.Ser538=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001412305] Chr3:183034058 [GRCh38]
Chr3:182751846 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1394C>T (p.Thr465Ile) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV004587179]|not provided [RCV001564641] Chr3:183037418 [GRCh38]
Chr3:182755206 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1339G>A (p.Ala447Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000546862] Chr3:183039064 [GRCh38]
Chr3:182756852 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000002006]|Methylcrotonyl-CoA carboxylase deficiency [RCV000614611]|not provided [RCV000081995] Chr3:183045522 [GRCh38]
Chr3:182763310 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000002007]|Inborn genetic diseases [RCV002512665]|Methylcrotonyl-CoA carboxylase deficiency [RCV001275509]|not provided [RCV000153465] Chr3:183041679 [GRCh38]
Chr3:182759467 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.1594G>C (p.Asp532His) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000002008] Chr3:183037218 [GRCh38]
Chr3:182755006 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1310T>C (p.Leu437Pro) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000002009] Chr3:183039093 [GRCh38]
Chr3:182756881 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.1604C>T (p.Ser535Phe) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000002010] Chr3:183034068 [GRCh38]
Chr3:182751856 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000002011]|MCCC1-related disorder [RCV003390633]|Methylcrotonyl-CoA carboxylase deficiency [RCV001273490]|not provided [RCV000729973] Chr3:183015537 [GRCh38]
Chr3:182733325 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.1380T>G (p.Ile460Met) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000002012] Chr3:183037432 [GRCh38]
Chr3:182755220 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.4(MCCC1):c.370-2511A>T single nucleotide variant Lung cancer [RCV000097497] Chr3:183074998 [GRCh38]
Chr3:182792786 [GRCh37]
Chr3:3q27.1
uncertain significance
GRCh38/hg38 3q26.33-28(chr3:182678453-188418928)x1 copy number loss See cases [RCV000051607] Chr3:182678453..188418928 [GRCh38]
Chr3:182396241..188136716 [GRCh37]
Chr3:183878935..189619410 [NCBI36]
Chr3:3q26.33-28
pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q26.32-29(chr3:178411707-198110319)x3 copy number gain See cases [RCV000051736] Chr3:178411707..198110319 [GRCh38]
Chr3:178129495..197837190 [GRCh37]
Chr3:179612189..199321587 [NCBI36]
Chr3:3q26.32-29
pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
NM_020166.4(MCCC1):c.1280C>T (p.Ser427Phe) single nucleotide variant Malignant melanoma [RCV000060775] Chr3:183039123 [GRCh38]
Chr3:182756911 [GRCh37]
Chr3:184239605 [NCBI36]
Chr3:3q27.1
not provided
NM_020166.5(MCCC1):c.1074del (p.Trp358fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000803322]|not provided [RCV000173882] Chr3:183045422 [GRCh38]
Chr3:182763210 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.1277T>C (p.Val426Ala) single nucleotide variant not provided [RCV000174390] Chr3:183039126 [GRCh38]
Chr3:182756914 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1315G>A (p.Val439Met) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000653496]|MCCC1-related disorder [RCV003398679]|not provided [RCV000259066] Chr3:183039088 [GRCh38]
Chr3:182756876 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000987368]|not provided [RCV001682786]|not specified [RCV000081992] Chr3:183037421 [GRCh38]
Chr3:182755209 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.156C>A (p.Val52=) single nucleotide variant not provided [RCV000081993] Chr3:183092526 [GRCh38]
Chr3:182810314 [GRCh37]
Chr3:3q27.1
conflicting interpretations of pathogenicity|uncertain significance
NM_020166.5(MCCC1):c.396C>T (p.Leu132=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000291937]|not provided [RCV001711197]|not specified [RCV000081994] Chr3:183072461 [GRCh38]
Chr3:182790249 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.1386A>G (p.Gly462=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001494540] Chr3:183037426 [GRCh38]
Chr3:182755214 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.726T>C (p.Asp242=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000872406]|Methylcrotonyl-CoA carboxylase deficiency [RCV001275514]|not provided [RCV003436947]|not specified [RCV000126698] Chr3:183071034 [GRCh38]
Chr3:182788822 [GRCh37]
Chr3:3q27.1
benign|likely benign
NM_020166.5(MCCC1):c.-25C>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001145992]|not provided [RCV004717045]|not specified [RCV000126699] Chr3:183099465 [GRCh38]
Chr3:182817253 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.2149G>A (p.Glu717Lys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000872405]|Methylcrotonyl-CoA carboxylase deficiency [RCV001273489]|not provided [RCV004715715]|not specified [RCV000126700] Chr3:183015467 [GRCh38]
Chr3:183015467..183015468 [GRCh38]
Chr3:182733255 [GRCh37]
Chr3:182733255..182733256 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.640-2A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000179961]|Methylcrotonyl-CoA carboxylase deficiency [RCV001275516]|not provided [RCV000723408] Chr3:183071122 [GRCh38]
Chr3:182788910 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_020166.5(MCCC1):c.205A>T (p.Lys69Ter) single nucleotide variant not provided [RCV000177314] Chr3:183092477 [GRCh38]
Chr3:182810265 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.762G>C (p.Arg254Ser) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001348099] Chr3:183057422 [GRCh38]
Chr3:182775210 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.492-92T>A single nucleotide variant not provided [RCV001565270] Chr3:183071449 [GRCh38]
Chr3:182789237 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000174145]|Methylcrotonyl-CoA carboxylase deficiency [RCV001275510]|not provided [RCV000723480] Chr3:183041720 [GRCh38]
Chr3:182759508 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1139A>C (p.His380Pro) single nucleotide variant not provided [RCV000174146] Chr3:183041695 [GRCh38]
Chr3:182759483 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1700C>T (p.Thr567Met) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001852133]|not provided [RCV000174941] Chr3:183025786 [GRCh38]
Chr3:182743574 [GRCh37]
Chr3:3q27.1
uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29
pathogenic
GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3 copy number gain See cases [RCV000138009] Chr3:176439911..198118383 [GRCh38]
Chr3:176157699..197845254 [GRCh37]
Chr3:177640393..199329651 [NCBI36]
Chr3:3q26.32-29
pathogenic|likely benign
GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3 copy number gain See cases [RCV000138662] Chr3:176168525..198118383 [GRCh38]
Chr3:175886313..197845254 [GRCh37]
Chr3:177369007..199329651 [NCBI36]
Chr3:3q26.32-29
pathogenic
GRCh38/hg38 3q26.33-27.1(chr3:182865842-183895718)x3 copy number gain See cases [RCV000138425] Chr3:182865842..183895718 [GRCh38]
Chr3:182583630..183613506 [GRCh37]
Chr3:184066324..185096200 [NCBI36]
Chr3:3q26.33-27.1
uncertain significance
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1 copy number loss See cases [RCV000142154] Chr3:182319764..186443121 [GRCh38]
Chr3:182037552..186160910 [GRCh37]
Chr3:183520246..187643604 [NCBI36]
Chr3:3q26.33-27.3
likely pathogenic
GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3 copy number gain See cases [RCV000142107] Chr3:167717962..188365272 [GRCh38]
Chr3:167435750..188083060 [GRCh37]
Chr3:168918444..189565754 [NCBI36]
Chr3:3q26.1-28
likely pathogenic
GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1 copy number loss See cases [RCV000142019] Chr3:181138664..192512023 [GRCh38]
Chr3:180856452..192229812 [GRCh37]
Chr3:182339146..193712506 [NCBI36]
Chr3:3q26.33-28
pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29
pathogenic
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000554672]|Methylcrotonyl-CoA carboxylase deficiency [RCV001273491]|not provided [RCV003436962]|not specified [RCV000153462] Chr3:183034058 [GRCh38]
Chr3:182751846 [GRCh37]
Chr3:3q27.1
benign|likely benign|uncertain significance
NM_020166.5(MCCC1):c.1905del (p.Lys635fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001231585]|Methylcrotonyl-CoA carboxylase deficiency [RCV002509256]|not provided [RCV000175221] Chr3:183020202 [GRCh38]
Chr3:182737990 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.1526del (p.Cys509fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000174585]|Methylcrotonyl-CoA carboxylase deficiency [RCV001273492]|not provided [RCV000790695] Chr3:183037286 [GRCh38]
Chr3:182755074 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1399A>T (p.Ile467Phe) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003133152]|not provided [RCV000153464] Chr3:183037413 [GRCh38]
Chr3:182755201 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.873G>A (p.Ala291=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000533988]|Inborn genetic diseases [RCV002514957]|Methylcrotonyl-CoA carboxylase deficiency [RCV001275511]|not provided [RCV000153466] Chr3:183057311 [GRCh38]
Chr3:182775099 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.694C>T (p.Arg232Trp) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001056550]|MCCC1-related disorder [RCV003390844]|not provided [RCV000153467] Chr3:183071066 [GRCh38]
Chr3:182788854 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.640-1G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001850096]|MCCC1-related disorder [RCV003416001]|not provided [RCV000179962] Chr3:183071121 [GRCh38]
Chr3:182788909 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.137-2A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001850097]|not provided [RCV000153469] Chr3:183092547 [GRCh38]
Chr3:182810335 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.4(MCCC1):c.380C>T (p.Pro127Leu) single nucleotide variant not provided [RCV000185988] Chr3:183072477 [GRCh38]
Chr3:182790265 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000281372]|MCCC1-related disorder [RCV003390913]|Methylcrotonyl-CoA carboxylase deficiency [RCV001275513]|not provided [RCV000725859] Chr3:183057343 [GRCh38]
Chr3:182775131 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000808142]|Methylcrotonyl-CoA carboxylase deficiency [RCV001275506]|not provided [RCV003480081] Chr3:183039072 [GRCh38]
Chr3:182756860 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic|uncertain significance
NM_020166.5(MCCC1):c.137G>A (p.Gly46Glu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000554762]|Inborn genetic diseases [RCV004639166]|not provided [RCV000185992]|not specified [RCV003398925] Chr3:183092545 [GRCh38]
Chr3:182810333 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic|uncertain significance
NM_020166.5(MCCC1):c.1193_1194del (p.Val398fs) microsatellite 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000687710]|not provided [RCV000185993] Chr3:183041640..183041641 [GRCh38]
Chr3:182759428..182759429 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1363del (p.Leu455fs) deletion not provided [RCV000185994] Chr3:183039040 [GRCh38]
Chr3:182756828 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.2085del (p.Val697fs) deletion not provided [RCV000185995] Chr3:183015531 [GRCh38]
Chr3:182733319 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.161T>C (p.Ile54Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001361105] Chr3:183092521 [GRCh38]
Chr3:182810309 [GRCh37]
Chr3:3q27.1
likely pathogenic|uncertain significance
NM_020166.5(MCCC1):c.425_427delinsAC (p.Cys142fs) indel 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001246334] Chr3:183072430..183072432 [GRCh38]
Chr3:182790218..182790220 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.980C>G (p.Ser327Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000705149]|not provided [RCV000255554] Chr3:183045516 [GRCh38]
Chr3:182763304 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1225C>T (p.Arg409Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000653486]|not provided [RCV000579365] Chr3:183041609 [GRCh38]
Chr3:182759397 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.131C>T (p.Ala44Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000286213]|Inborn genetic diseases [RCV002520113]|not provided [RCV004694728] Chr3:183094564 [GRCh38]
Chr3:182812352 [GRCh37]
Chr3:3q27.1
uncertain significance
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29
pathogenic
NM_020166.5(MCCC1):c.491+35G>A single nucleotide variant not specified [RCV000253489] Chr3:183072331 [GRCh38]
Chr3:182790119 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.231G>A (p.Ala77=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000653498]|not provided [RCV003437045]|not specified [RCV000253593] Chr3:183092451 [GRCh38]
Chr3:182810239 [GRCh37]
Chr3:3q27.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020166.5(MCCC1):c.1772G>A (p.Ser591Asn) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000653489]|not specified [RCV000249040] Chr3:183022514 [GRCh38]
Chr3:182740302 [GRCh37]
Chr3:3q27.1
benign|likely benign
NM_020166.5(MCCC1):c.1594+39T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001527497]|not provided [RCV004715802]|not specified [RCV000253943] Chr3:183037179 [GRCh38]
Chr3:182754967 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.-24A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001145991]|not provided [RCV001711725]|not specified [RCV000249369] Chr3:183099464 [GRCh38]
Chr3:182817252 [GRCh37]
Chr3:3q27.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_020166.5(MCCC1):c.491+36A>G single nucleotide variant not specified [RCV000245080] Chr3:183072330 [GRCh38]
Chr3:182790118 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.273+32C>T single nucleotide variant not specified [RCV000245612] Chr3:183092377 [GRCh38]
Chr3:182810165 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.768A>G (p.Val256=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000332695] Chr3:183057416 [GRCh38]
Chr3:182775204 [GRCh37]
Chr3:3q27.1
conflicting interpretations of pathogenicity|uncertain significance
NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000870840]|MCCC1-related disorder [RCV003932392]|Methylcrotonyl-CoA carboxylase deficiency [RCV001275505]|not provided [RCV004710941]|not specified [RCV000610205] Chr3:183037313 [GRCh38]
Chr3:183037313..183037314 [GRCh38]
Chr3:182755101 [GRCh37]
Chr3:182755101..182755102 [GRCh37]
Chr3:3q27.1
benign|likely benign|uncertain significance
NM_020166.5(MCCC1):c.2050-6_2050-5del microsatellite 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003600374]|Methylcrotonyl-CoA carboxylase deficiency [RCV000301936] Chr3:183015571..183015572 [GRCh38]
Chr3:182733359..182733360 [GRCh37]
Chr3:3q27.1
likely benign|uncertain significance
NM_020166.4(MCCC1):c.-102C>A single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV000356233] Chr3:183099542 [GRCh38]
Chr3:182817330 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1339G>T (p.Ala447Ser) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000319936] Chr3:183039064 [GRCh38]
Chr3:182756852 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000509185]|not provided [RCV001557679]|not specified [RCV001584053] Chr3:183020213 [GRCh38]
Chr3:182738001 [GRCh37]
Chr3:3q27.1
uncertain significance|not provided
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000403506]|not provided [RCV001570176] Chr3:183015445 [GRCh38]
Chr3:182733233 [GRCh37]
Chr3:3q27.1
conflicting interpretations of pathogenicity|uncertain significance
NM_020166.5(MCCC1):c.388G>A (p.Gly130Ser) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000685415]|MCCC1-related disorder [RCV003418068]|not specified [RCV003330650] Chr3:183072469 [GRCh38]
Chr3:182790257 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.4(MCCC1):c.-132C>T single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV000405482] Chr3:183099572 [GRCh38]
Chr3:182817360 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.623G>A (p.Arg208Gln) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002520112]|Inborn genetic diseases [RCV002520111]|Methylcrotonyl-CoA carboxylase deficiency [RCV000383858] Chr3:183071226 [GRCh38]
Chr3:182789014 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000952231] Chr3:183039122 [GRCh38]
Chr3:182756910 [GRCh37]
Chr3:3q27.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020166.5(MCCC1):c.*45A>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000307889] Chr3:183015393 [GRCh38]
Chr3:182733181 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.-23C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000343523] Chr3:183099463 [GRCh38]
Chr3:182817251 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.639+13A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000327075] Chr3:183071197 [GRCh38]
Chr3:182788985 [GRCh37]
Chr3:3q27.1
conflicting interpretations of pathogenicity|uncertain significance
NM_020166.5(MCCC1):c.*1A>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000346325]|not provided [RCV001718732] Chr3:183015437 [GRCh38]
Chr3:182733225 [GRCh37]
Chr3:3q27.1
likely benign|uncertain significance
NM_020166.4(MCCC1):c.-100G>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001527517]|Methylcrotonyl-CoA carboxylase deficiency [RCV000392572]|not provided [RCV004716051] Chr3:183099540 [GRCh38]
Chr3:182817328 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.994T>G (p.Cys332Gly) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV000275319] Chr3:183045502 [GRCh38]
Chr3:182763290 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1724G>A (p.Ser575Asn) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000266673] Chr3:183025762 [GRCh38]
Chr3:182743550 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1427A>T (p.His476Leu) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001280055] Chr3:183037385 [GRCh38]
Chr3:182755173 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1595-180A>G single nucleotide variant not provided [RCV002285879] Chr3:183034257 [GRCh38]
Chr3:182752045 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.362C>T (p.Ala121Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001578669]|Methylcrotonyl-CoA carboxylase deficiency [RCV001277564] Chr3:183086700 [GRCh38]
Chr3:182804488 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1259T>C (p.Val420Ala) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002537751]|Methylcrotonyl-CoA carboxylase deficiency [RCV001277557] Chr3:183041575 [GRCh38]
Chr3:182759363 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.387C>T (p.Cys129=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002069403]|Methylcrotonyl-CoA carboxylase deficiency [RCV001277562] Chr3:183072470 [GRCh38]
Chr3:182790258 [GRCh37]
Chr3:3q27.1
likely benign|uncertain significance
NM_020166.5(MCCC1):c.208A>G (p.Lys70Glu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001880230]|Methylcrotonyl-CoA carboxylase deficiency [RCV001277566] Chr3:183092474 [GRCh38]
Chr3:182810262 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1048A>G (p.Ile350Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001360811]|Methylcrotonyl-CoA carboxylase deficiency [RCV001277558] Chr3:183045448 [GRCh38]
Chr3:182763236 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.453C>T (p.Gly151=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001578672] Chr3:183072404 [GRCh38]
Chr3:182790192 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000549808]|Methylcrotonyl-CoA carboxylase deficiency [RCV001275512]|not specified [RCV002298662] Chr3:183057321 [GRCh38]
Chr3:182775109 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic|uncertain significance
NM_020166.5(MCCC1):c.729T>C (p.Ala243=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002520110]|Methylcrotonyl-CoA carboxylase deficiency [RCV000389538] Chr3:183071031 [GRCh38]
Chr3:182788819 [GRCh37]
Chr3:3q27.1
likely benign|uncertain significance
NM_020166.5(MCCC1):c.640_641delGG deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000288396]|Methylcrotonyl-CoA carboxylase deficiency [RCV001275515]|not provided [RCV000592355] Chr3:183071119..183071120 [GRCh38]
Chr3:182788907..182788908 [GRCh37]
Chr3:3q27.1
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_020166.4(MCCC1):c.-101C>T single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV000299144] Chr3:183099541 [GRCh38]
Chr3:182817329 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.136+7A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000942129]|not specified [RCV000600326] Chr3:183094552 [GRCh38]
Chr3:182812340 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.171_172del (p.Gly58fs) microsatellite 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000531058] Chr3:183092510..183092511 [GRCh38]
Chr3:182810298..182810299 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000653488]|not provided [RCV000599442] Chr3:183020177 [GRCh38]
Chr3:182737965 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1973_1977+28del deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000591068]|not provided [RCV000726783] Chr3:183020102..183020134 [GRCh38]
Chr3:182737890..182737922 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.794A>G (p.His265Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000625857] Chr3:183057390 [GRCh38]
Chr3:182775178 [GRCh37]
Chr3:3q27.1
uncertain significance
NC_000003.11:g.182759359C>CC single nucleotide variant not provided [RCV000730035] Chr3:182759359 [GRCh37]
Chr3:3q27.1
pathogenic
GRCh37/hg19 3q27.1(chr3:182746355-182804565)x1 copy number loss See cases [RCV000449241] Chr3:182746355..182804565 [GRCh37]
Chr3:3q27.1
uncertain significance
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29
pathogenic
GRCh37/hg19 3q26.33-27.1(chr3:182513778-182737878)x3 copy number gain See cases [RCV000446105] Chr3:182513778..182737878 [GRCh37]
Chr3:3q26.33-27.1
likely benign
GRCh37/hg19 3q26.33-29(chr3:181911498-197851986)x4 copy number gain See cases [RCV000446732] Chr3:181911498..197851986 [GRCh37]
Chr3:3q26.33-29
pathogenic
GRCh37/hg19 3q27.1(chr3:182737878-182814840)x3 copy number gain See cases [RCV000447165] Chr3:182737878..182814840 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1341A>G (p.Ala447=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002059014]|not specified [RCV000434940] Chr3:183039062 [GRCh38]
Chr3:182756850 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1941C>A (p.Gly647=) single nucleotide variant not specified [RCV000431906] Chr3:183020166 [GRCh38]
Chr3:182737954 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.438A>G (p.Gly146=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000893643]|not specified [RCV000438820] Chr3:183072419 [GRCh38]
Chr3:182790207 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.136+19G>T single nucleotide variant not specified [RCV000428543] Chr3:183094540 [GRCh38]
Chr3:182812328 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.-42C>T single nucleotide variant not specified [RCV000435590] Chr3:183099482 [GRCh38]
Chr3:182817270 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1732-9T>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002059736]|not specified [RCV000425410] Chr3:183022563 [GRCh38]
Chr3:182740351 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1860A>G (p.Leu620=) single nucleotide variant not specified [RCV000425446] Chr3:183022426 [GRCh38]
Chr3:182740214 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.267A>C (p.Val89=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000968567]|not specified [RCV000429850] Chr3:183092415 [GRCh38]
Chr3:182810203 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.945T>C (p.Tyr315=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000877301]|not specified [RCV000436986] Chr3:183052169 [GRCh38]
Chr3:182769957 [GRCh37]
Chr3:3q27.1
pathogenic|benign|likely benign
NM_020166.5(MCCC1):c.168C>G (p.Asn56Lys) single nucleotide variant not provided [RCV000441741]|not specified [RCV003330667] Chr3:183092514 [GRCh38]
Chr3:182810302 [GRCh37]
Chr3:3q27.1
pathogenic|uncertain significance
NC_000003.12:g.177772523_185716872dup duplication Currarino triad [RCV000417195] Chr3:177772523..185716872 [GRCh38]
Chr3:3q26.32-27.2
likely pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29
pathogenic
NM_020166.5(MCCC1):c.*15_*40del deletion not specified [RCV000479486] Chr3:183015398..183015423 [GRCh38]
Chr3:182733186..182733211 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000765716]|Inborn genetic diseases [RCV002525964]|not provided [RCV000482746] Chr3:183022494 [GRCh38]
Chr3:182740282 [GRCh37]
Chr3:3q27.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020166.5(MCCC1):c.1701G>A (p.Thr567=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000502051]|MCCC1-related disorder [RCV003925498] Chr3:183025785 [GRCh38]
Chr3:182743573 [GRCh37]
Chr3:3q27.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020166.5(MCCC1):c.359C>T (p.Ser120Phe) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000814269]|not provided [RCV000498532] Chr3:183086703 [GRCh38]
Chr3:182804491 [GRCh37]
Chr3:3q27.1
likely pathogenic|uncertain significance
NM_020166.5(MCCC1):c.1330C>T (p.Arg444Cys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001834597]|not provided [RCV000493467]|not specified [RCV002222532] Chr3:183039073 [GRCh38]
Chr3:182756861 [GRCh37]
Chr3:3q27.1
likely pathogenic|uncertain significance
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000763509]|not provided [RCV000578625] Chr3:183052169 [GRCh38]
Chr3:182769957 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs) duplication 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000541919]|not provided [RCV000730035] Chr3:183041570..183041571 [GRCh38]
Chr3:182759358..182759359 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.2030T>G (p.Met677Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000560770] Chr3:183017285 [GRCh38]
Chr3:182735073 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1083+15dup duplication 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002063031]|not specified [RCV000599638] Chr3:183045397..183045398 [GRCh38]
Chr3:182763185..182763186 [GRCh37]
Chr3:3q27.1
benign|likely benign
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_020166.5(MCCC1):c.1338G>A (p.Ala446=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000913446]|not specified [RCV000602187] Chr3:183039065 [GRCh38]
Chr3:182756853 [GRCh37]
Chr3:3q27.1
likely benign
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000537046]|Inborn genetic diseases [RCV002526735]|not specified [RCV004689793] Chr3:183071002 [GRCh38]
Chr3:182788790 [GRCh37]
Chr3:3q27.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_020166.5(MCCC1):c.1731+6C>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000818682]|MCCC1-related disorder [RCV003953023]|not specified [RCV000601556] Chr3:183025749 [GRCh38]
Chr3:182743537 [GRCh37]
Chr3:3q27.1
likely benign|uncertain significance
NM_020166.5(MCCC1):c.738C>T (p.Ile246=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003767619]|not specified [RCV000616125] Chr3:183071022 [GRCh38]
Chr3:182788810 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.2051A>G (p.His684Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000653491] Chr3:183015565 [GRCh38]
Chr3:182733353 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1679dup (p.Asn560fs) duplication 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000653492]|MCCC1-related disorder [RCV003424257] Chr3:183033992..183033993 [GRCh38]
Chr3:182751780..182751781 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.196C>T (p.Arg66Cys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000653493]|Methylcrotonyl-CoA carboxylase deficiency [RCV003226348] Chr3:183092486 [GRCh38]
Chr3:182810274 [GRCh37]
Chr3:3q27.1
likely pathogenic|uncertain significance
NM_020166.5(MCCC1):c.1632A>C (p.Arg544Ser) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000653494] Chr3:183034040 [GRCh38]
Chr3:182751828 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1A>G (p.Met1Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000653495]|MCCC1-related disorder [RCV003403504] Chr3:183099440 [GRCh38]
Chr3:182817228 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1153A>G (p.Arg385Gly) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000653497] Chr3:183041681 [GRCh38]
Chr3:182759469 [GRCh37]
Chr3:3q27.1
likely pathogenic|uncertain significance
NM_020166.5(MCCC1):c.1658T>A (p.Met553Lys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000653487] Chr3:183034014 [GRCh38]
Chr3:182751802 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.874-6dup duplication 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001514807]|not specified [RCV000610636] Chr3:183052245..183052246 [GRCh38]
Chr3:182770033..182770034 [GRCh37]
Chr3:3q27.1
benign|likely benign
NM_020166.5(MCCC1):c.-43_-40del deletion not specified [RCV000613804] Chr3:183099480..183099483 [GRCh38]
Chr3:182817268..182817271 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.872C>T (p.Ala291Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000557663]|Methylcrotonyl-CoA carboxylase deficiency [RCV002271527]|not provided [RCV000723424] Chr3:183057312 [GRCh38]
Chr3:182775100 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_020166.5(MCCC1):c.231G>T (p.Ala77=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000877013]|not specified [RCV000609231] Chr3:183092451 [GRCh38]
Chr3:182810239 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.239G>A (p.Ser80Asn) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000625892]|Inborn genetic diseases [RCV002529767] Chr3:183092443 [GRCh38]
Chr3:182810231 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.69G>C (p.Pro23=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001443573]|not specified [RCV000602346] Chr3:183099372 [GRCh38]
Chr3:182817160 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.676G>T (p.Glu226Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001386926]|not provided [RCV000627283] Chr3:183071084 [GRCh38]
Chr3:182788872 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3 copy number gain not provided [RCV000682336] Chr3:182539234..197851986 [GRCh37]
Chr3:3q26.33-29
pathogenic
GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1 copy number loss not provided [RCV000682337] Chr3:182650681..191275809 [GRCh37]
Chr3:3q26.33-28
pathogenic
NM_020166.5(MCCC1):c.1222C>T (p.Pro408Ser) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000698666] Chr3:183041612 [GRCh38]
Chr3:182759400 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.842G>A (p.Arg281Gln) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000686996] Chr3:183057342 [GRCh38]
Chr3:182775130 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.137-10T>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000704069] Chr3:183092555 [GRCh38]
Chr3:182810343 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.343C>T (p.Gln115Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000690996] Chr3:183086719 [GRCh38]
Chr3:182804507 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000685336]|Inborn genetic diseases [RCV003163095]|Methylcrotonyl-CoA carboxylase deficiency [RCV001273450]|not provided [RCV001557287] Chr3:183020165 [GRCh38]
Chr3:182737953 [GRCh37]
Chr3:3q27.1
conflicting interpretations of pathogenicity|uncertain significance
NM_020166.5(MCCC1):c.1422_1426delinsAA (p.Gly475_His476delinsAsn) indel 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000685364] Chr3:183037386..183037390 [GRCh38]
Chr3:182755174..182755178 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.295G>C (p.Gly99Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000685787] Chr3:183086767 [GRCh38]
Chr3:182804555 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.626G>A (p.Gly209Asp) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000689580]|MCCC1-related disorder [RCV003411603] Chr3:183071223 [GRCh38]
Chr3:182789011 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.739_742delinsATAGCATAGC (p.Glu247_Lys248delinsIleAlaTer) indel 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000704278] Chr3:183071018..183071021 [GRCh38]
Chr3:182788806..182788809 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.559T>C (p.Ser187Pro) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000702398]|not provided [RCV000727584]|not specified [RCV003117497] Chr3:183071290 [GRCh38]
Chr3:182789078 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1257_1263del (p.Val420fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000695486]|MCCC1-related disorder [RCV003403612] Chr3:183041571..183041577 [GRCh38]
Chr3:182759359..182759365 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.641G>A (p.Gly214Glu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000691200] Chr3:183071119 [GRCh38]
Chr3:182788907 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.491+188A>T single nucleotide variant not provided [RCV001539842] Chr3:183072178 [GRCh38]
Chr3:182789966 [GRCh37]
Chr3:3q27.1
benign
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q26.31-29(chr3:173281266-197838262)x3 copy number gain not provided [RCV000742968] Chr3:173281266..197838262 [GRCh37]
Chr3:3q26.31-29
pathogenic
NM_020166.5(MCCC1):c.761+265del deletion not provided [RCV001541798] Chr3:183070734 [GRCh38]
Chr3:182788522 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.1682-75G>T single nucleotide variant not provided [RCV001567782] Chr3:183025879 [GRCh38]
Chr3:182743667 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.503C>A (p.Ser168Tyr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001578670] Chr3:183071346 [GRCh38]
Chr3:182789134 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1594+127G>T single nucleotide variant not provided [RCV001569707] Chr3:183037091 [GRCh38]
Chr3:182754879 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.2049+237T>C single nucleotide variant not provided [RCV001551808] Chr3:183017029 [GRCh38]
Chr3:182734817 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1595-178G>A single nucleotide variant not provided [RCV001609204] Chr3:183034255 [GRCh38]
Chr3:182752043 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.1416C>T (p.Asn472=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001506624] Chr3:183037396 [GRCh38]
Chr3:182755184 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1833G>T (p.Leu611=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000983084] Chr3:183022453 [GRCh38]
Chr3:182740241 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1839C>A (p.Ile613=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000898868] Chr3:183022447 [GRCh38]
Chr3:182740235 [GRCh37]
Chr3:3q27.1
likely benign|conflicting interpretations of pathogenicity
NM_020166.5(MCCC1):c.1695T>C (p.Ala565=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000981381] Chr3:183025791 [GRCh38]
Chr3:182743579 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.678A>G (p.Glu226=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000981382] Chr3:183071082 [GRCh38]
Chr3:182788870 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.300C>G (p.Pro100=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001273453] Chr3:183086762 [GRCh38]
Chr3:182804550 [GRCh37]
Chr3:3q27.1
likely benign|uncertain significance
NM_020166.5(MCCC1):c.2085G>A (p.Lys695=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001407869] Chr3:183015531 [GRCh38]
Chr3:182733319 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1486T>C (p.Leu496=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001826930] Chr3:183037326 [GRCh38]
Chr3:182755114 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1356G>A (p.Arg452=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001392304] Chr3:183039047 [GRCh38]
Chr3:182756835 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1851T>C (p.Thr617=) single nucleotide variant not provided [RCV000922338] Chr3:183022435 [GRCh38]
Chr3:182740223 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.81G>A (p.Leu27=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000902189] Chr3:183099360 [GRCh38]
Chr3:182817148 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1270G>A (p.Asp424Asn) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001034851] Chr3:183039133 [GRCh38]
Chr3:182756921 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.916G>T (p.Ala306Ser) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001907564] Chr3:183052198 [GRCh38]
Chr3:182769986 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.829A>G (p.Ser277Gly) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001061963] Chr3:183057355 [GRCh38]
Chr3:182775143 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1140T>G (p.His380Gln) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001056746] Chr3:183041694 [GRCh38]
Chr3:182759482 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.558del (p.Gln186fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000810504]|Methylcrotonyl-CoA carboxylase deficiency [RCV001275518]|not provided [RCV001093262] Chr3:183071291 [GRCh38]
Chr3:182789079 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.54G>A (p.Arg18=) single nucleotide variant not provided [RCV000970828] Chr3:183099387 [GRCh38]
Chr3:182817175 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.2034C>T (p.Ile678=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000872946]|MCCC1-related disorder [RCV003895334]|Methylcrotonyl-CoA carboxylase deficiency [RCV001272465]|not provided [RCV004711341] Chr3:183017281 [GRCh38]
Chr3:182735069 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.294C>T (p.Ile98=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000871779]|not provided [RCV003438524] Chr3:183086768 [GRCh38]
Chr3:182804556 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000864404]|MCCC1-related disorder [RCV003948090]|Methylcrotonyl-CoA carboxylase deficiency [RCV001273452]|not provided [RCV004711318] Chr3:183039066 [GRCh38]
Chr3:182756854 [GRCh37]
Chr3:3q27.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000865064]|not provided [RCV003328637] Chr3:183092428 [GRCh38]
Chr3:182810216 [GRCh37]
Chr3:3q27.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020166.5(MCCC1):c.320A>G (p.Tyr107Cys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000818875] Chr3:183086742 [GRCh38]
Chr3:182804530 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.956-8C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001487594] Chr3:183045548 [GRCh38]
Chr3:182763336 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.2088dup (p.Val697fs) duplication 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000817601]|not provided [RCV001528975] Chr3:183015527..183015528 [GRCh38]
Chr3:182733315..182733316 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic|uncertain significance
NM_020166.5(MCCC1):c.704del (p.Ala235fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000796753] Chr3:183071056 [GRCh38]
Chr3:182788844 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1401T>C (p.Ile467=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000976745] Chr3:183037411 [GRCh38]
Chr3:182755199 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1595A>G (p.Asp532Gly) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000794225] Chr3:183034077 [GRCh38]
Chr3:182751865 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1703A>G (p.Tyr568Cys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000821781]|MCCC1-related disorder [RCV003413658]|not provided [RCV001575644] Chr3:183025783 [GRCh38]
Chr3:182743571 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000822030]|Methylcrotonyl-CoA carboxylase deficiency [RCV003987713]|not provided [RCV001575916] Chr3:183039101 [GRCh38]
Chr3:182756889 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic|uncertain significance
NM_020166.5(MCCC1):c.762-187G>A single nucleotide variant not provided [RCV000844399] Chr3:183057609 [GRCh38]
Chr3:182775397 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.956-252C>T single nucleotide variant not provided [RCV000844401] Chr3:183045792 [GRCh38]
Chr3:182763580 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.1210dup (p.His404fs) duplication 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000808799] Chr3:183041623..183041624 [GRCh38]
Chr3:182759411..182759412 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1083+185G>A single nucleotide variant not provided [RCV000844402] Chr3:183045228 [GRCh38]
Chr3:183045228..183045229 [GRCh38]
Chr3:182763016 [GRCh37]
Chr3:182763016..182763017 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.1084-217G>A single nucleotide variant not provided [RCV000844403] Chr3:183041967 [GRCh38]
Chr3:182759755 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.1268-255A>G single nucleotide variant not provided [RCV000844410] Chr3:183039390 [GRCh38]
Chr3:182757178 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.1731+276G>T single nucleotide variant not provided [RCV000844411] Chr3:183025479 [GRCh38]
Chr3:182743267 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.860A>G (p.Glu287Gly) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000820469] Chr3:183057324 [GRCh38]
Chr3:182775112 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.2123dup (p.His708fs) duplication 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000809952] Chr3:183015492..183015493 [GRCh38]
Chr3:182733280..182733281 [GRCh37]
Chr3:3q27.1
conflicting interpretations of pathogenicity|uncertain significance
NM_020166.5(MCCC1):c.1595-1G>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000807500] Chr3:183034078 [GRCh38]
Chr3:182751866 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.950G>C (p.Gly317Ala) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000799046] Chr3:183052164 [GRCh38]
Chr3:182769952 [GRCh37]
Chr3:3q27.1
uncertain significance
GRCh37/hg19 3q27.1(chr3:182787792-182922112)x1 copy number loss not provided [RCV000848733] Chr3:182787792..182922112 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.295G>A (p.Gly99Ser) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000812667]|not specified [RCV003323730] Chr3:183086767 [GRCh38]
Chr3:182804555 [GRCh37]
Chr3:3q27.1
likely pathogenic|uncertain significance
NM_020166.5(MCCC1):c.984A>T (p.Lys328Asn) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000813013]|Methylcrotonyl-CoA carboxylase deficiency [RCV001277559] Chr3:183045512 [GRCh38]
Chr3:182763300 [GRCh37]
Chr3:3q27.1
likely benign|uncertain significance
NC_000003.12:g.(?_183052139)_(183052260_?)del deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000823965] Chr3:183052139..183052260 [GRCh38]
Chr3:182769927..182770048 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000803982]|Inborn genetic diseases [RCV002534769]|Methylcrotonyl-CoA carboxylase deficiency [RCV001273451] Chr3:183037251 [GRCh38]
Chr3:182755039 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1730A>G (p.Gln577Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000807706]|MCCC1-related disorder [RCV003975327] Chr3:183025756 [GRCh38]
Chr3:182743544 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1304C>T (p.Ala435Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000794663] Chr3:183039099 [GRCh38]
Chr3:182756887 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.673C>T (p.Gln225Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000810043] Chr3:183071087 [GRCh38]
Chr3:182788875 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1282G>A (p.Val428Met) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001150243]|Methylcrotonyl-CoA carboxylase deficiency [RCV001280057] Chr3:183039121 [GRCh38]
Chr3:182756909 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1483C>T (p.Gln495Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001095700] Chr3:183037329 [GRCh38]
Chr3:182755117 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.1268-1G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000794932] Chr3:183039136 [GRCh38]
Chr3:182756924 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.1722T>C (p.Tyr574=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001148666] Chr3:183025764 [GRCh38]
Chr3:182743552 [GRCh37]
Chr3:3q27.1
conflicting interpretations of pathogenicity|uncertain significance
NM_020166.5(MCCC1):c.89+1G>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000804750]|MCCC1-related disorder [RCV003413611] Chr3:183099351 [GRCh38]
Chr3:182817139 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1565T>C (p.Met522Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001148667] Chr3:183037247 [GRCh38]
Chr3:182755035 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1773C>T (p.Ser591=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000798520] Chr3:183022513 [GRCh38]
Chr3:182740301 [GRCh37]
Chr3:3q27.1
likely benign|uncertain significance
NM_020166.5(MCCC1):c.635G>C (p.Gly212Ala) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000798694] Chr3:183071214 [GRCh38]
Chr3:182789002 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1994G>A (p.Gly665Glu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000812729] Chr3:183017321 [GRCh38]
Chr3:182735109 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.350C>A (p.Ala117Asp) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000810735] Chr3:183086712 [GRCh38]
Chr3:182804500 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1223C>T (p.Pro408Leu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000805970] Chr3:183041611 [GRCh38]
Chr3:182759399 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.492-222A>G single nucleotide variant not provided [RCV000844398] Chr3:183071579 [GRCh38]
Chr3:182789367 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.1870-262C>T single nucleotide variant not provided [RCV000844412] Chr3:183020499 [GRCh38]
Chr3:182738287 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.1978-287T>A single nucleotide variant not provided [RCV000844413] Chr3:183017624 [GRCh38]
Chr3:182735412 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.1978-186G>A single nucleotide variant not provided [RCV000844414] Chr3:183017523 [GRCh38]
Chr3:182735311 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.2050-193A>G single nucleotide variant not provided [RCV000844415] Chr3:183015759 [GRCh38]
Chr3:182733547 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.535G>A (p.Glu179Lys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000794626]|Inborn genetic diseases [RCV004027497]|not provided [RCV002282369] Chr3:183071314 [GRCh38]
Chr3:182789102 [GRCh37]
Chr3:3q27.1
likely benign|uncertain significance
NM_020166.5(MCCC1):c.874-239A>G single nucleotide variant not provided [RCV000831645] Chr3:183052479 [GRCh38]
Chr3:182770267 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.245C>G (p.Ala82Gly) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000797633] Chr3:183092437 [GRCh38]
Chr3:182810225 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.83C>T (p.Pro28Leu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000804071] Chr3:183099358 [GRCh38]
Chr3:182817146 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1303G>A (p.Ala435Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000804238]|Methylcrotonyl-CoA carboxylase deficiency [RCV001275507] Chr3:183039100 [GRCh38]
Chr3:182756888 [GRCh37]
Chr3:3q27.1
pathogenic|uncertain significance
NC_000003.12:g.(?_183070989)_(183072497_?)del deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001032222] Chr3:182788777..182790285 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.*6A>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001145880] Chr3:183015432 [GRCh38]
Chr3:182733220 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1941C>T (p.Gly647=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001145881] Chr3:183020166 [GRCh38]
Chr3:182737954 [GRCh37]
Chr3:3q27.1
conflicting interpretations of pathogenicity|uncertain significance
NM_020166.5(MCCC1):c.1522_1544del (p.Leu508fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001043256] Chr3:183037268..183037290 [GRCh38]
Chr3:182755056..182755078 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.428A>T (p.Lys143Met) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001043221]|Inborn genetic diseases [RCV002551529] Chr3:183072429 [GRCh38]
Chr3:182790217 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.2035G>A (p.Ala679Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001239179] Chr3:183017280 [GRCh38]
Chr3:182735068 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1808A>G (p.Asn603Ser) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001246014]|Inborn genetic diseases [RCV003166545] Chr3:183022478 [GRCh38]
Chr3:182740266 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.370-16T>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001198522] Chr3:183072503 [GRCh38]
Chr3:182790291 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.273+53A>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000987369]|not provided [RCV001644870] Chr3:183092356 [GRCh38]
Chr3:183092356..183092357 [GRCh38]
Chr3:182810144 [GRCh37]
Chr3:182810144..182810145 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.1768T>C (p.Tyr590His) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001247582]|Inborn genetic diseases [RCV004034898]|Methylcrotonyl-CoA carboxylase deficiency [RCV001280050] Chr3:183022518 [GRCh38]
Chr3:182740306 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.9G>A (p.Ala3=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001144094] Chr3:183099432 [GRCh38]
Chr3:182817220 [GRCh37]
Chr3:3q27.1
conflicting interpretations of pathogenicity|uncertain significance
NM_020166.5(MCCC1):c.1268-20A>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003106457] Chr3:183039155 [GRCh38]
Chr3:182756943 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1595-111A>G single nucleotide variant not provided [RCV001550185] Chr3:183034188 [GRCh38]
Chr3:182751976 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.273+69A>G single nucleotide variant not provided [RCV001569018] Chr3:183092340 [GRCh38]
Chr3:182810128 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1978-194C>A single nucleotide variant not provided [RCV001659628] Chr3:183017531 [GRCh38]
Chr3:182735319 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.956-324G>T single nucleotide variant not provided [RCV001679494] Chr3:183045864 [GRCh38]
Chr3:182763652 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.-53G>A single nucleotide variant not provided [RCV001561187] Chr3:183099493 [GRCh38]
Chr3:182817281 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.273+270C>T single nucleotide variant not provided [RCV001593627] Chr3:183092139 [GRCh38]
Chr3:182809927 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1267+258G>A single nucleotide variant not provided [RCV001619650] Chr3:183041309 [GRCh38]
Chr3:182759097 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.1790dup (p.Tyr597Ter) duplication not provided [RCV001587904] Chr3:183022495..183022496 [GRCh38]
Chr3:182740283..182740284 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1869+255A>G single nucleotide variant not provided [RCV001724565] Chr3:183022162 [GRCh38]
Chr3:182739950 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.695G>A (p.Arg232Gln) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001580732] Chr3:183071065 [GRCh38]
Chr3:182788853 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1315G>T (p.Val439Leu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001580733] Chr3:183039088 [GRCh38]
Chr3:182756876 [GRCh37]
Chr3:3q27.1
conflicting interpretations of pathogenicity|uncertain significance
NM_020166.5(MCCC1):c.1764T>C (p.Asn588=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001858582] Chr3:183022522 [GRCh38]
Chr3:182740310 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.192G>A (p.Val64=) single nucleotide variant not provided [RCV000924916] Chr3:183092490 [GRCh38]
Chr3:182810278 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.144C>T (p.Asn48=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000930254] Chr3:183092538 [GRCh38]
Chr3:182810326 [GRCh37]
Chr3:3q27.1
likely benign|conflicting interpretations of pathogenicity
NM_020166.5(MCCC1):c.189G>A (p.Arg63=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001491491] Chr3:183092493 [GRCh38]
Chr3:182810281 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.108A>G (p.Gln36=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001396293] Chr3:183094587 [GRCh38]
Chr3:182812375 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1492C>T (p.Leu498Phe) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000871800] Chr3:183037320 [GRCh38]
Chr3:182755108 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1146C>T (p.Phe382=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001408267] Chr3:183041688 [GRCh38]
Chr3:182759476 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1864del (p.Ser622fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001210556] Chr3:183022422 [GRCh38]
Chr3:182740210 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.1937del (p.Gln646fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001226502] Chr3:183020170 [GRCh38]
Chr3:182737958 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1067T>C (p.Val356Ala) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001219840] Chr3:183045429 [GRCh38]
Chr3:182763217 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.682_685del (p.Leu228fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001239953] Chr3:183071075..183071078 [GRCh38]
Chr3:182788863..182788866 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.872del (p.Ala291fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001245155] Chr3:183057312 [GRCh38]
Chr3:182775100 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.1722T>G (p.Tyr574Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001223878] Chr3:183025764 [GRCh38]
Chr3:182743552 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1366C>T (p.Arg456Cys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001223882] Chr3:183039037 [GRCh38]
Chr3:182756825 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1216T>C (p.Ser406Pro) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001209005] Chr3:183041618 [GRCh38]
Chr3:182759406 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.197G>A (p.Arg66His) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001144092] Chr3:183092485 [GRCh38]
Chr3:182810273 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.130G>T (p.Ala44Ser) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001144093]|Inborn genetic diseases [RCV002557071]|not provided [RCV004694888] Chr3:183094565 [GRCh38]
Chr3:182812353 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.686A>G (p.Glu229Gly) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000935769] Chr3:183071074 [GRCh38]
Chr3:182788862 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.1595-181T>C single nucleotide variant not provided [RCV001569727] Chr3:183034258 [GRCh38]
Chr3:182752046 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.619G>A (p.Val207Ile) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001578671] Chr3:183071230 [GRCh38]
Chr3:182789018 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.873+36G>A single nucleotide variant not provided [RCV001574890] Chr3:183057275 [GRCh38]
Chr3:182775063 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1595-102T>C single nucleotide variant not provided [RCV001598146] Chr3:183034179 [GRCh38]
Chr3:182751967 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.1595-100T>C single nucleotide variant not provided [RCV001620117] Chr3:183034177 [GRCh38]
Chr3:182751965 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.2049+31G>A single nucleotide variant not provided [RCV001594187] Chr3:183017235 [GRCh38]
Chr3:182735023 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1149A>C (p.Glu383Asp) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003106577] Chr3:183041685 [GRCh38]
Chr3:182759473 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.288T>A (p.Tyr96Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003600440]|Methylcrotonyl-CoA carboxylase deficiency [RCV002470112] Chr3:183086774 [GRCh38]
Chr3:182804562 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.730A>G (p.Met244Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001043819] Chr3:183071030 [GRCh38]
Chr3:182788818 [GRCh37]
Chr3:3q27.1
uncertain significance
GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3 copy number gain not provided [RCV001005487] Chr3:169617690..190593854 [GRCh37]
Chr3:3q26.2-28
pathogenic
NM_020166.5(MCCC1):c.1977+94T>G single nucleotide variant not provided [RCV001718521] Chr3:183020036 [GRCh38]
Chr3:182737824 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.370-255G>T single nucleotide variant not provided [RCV001716449] Chr3:183072742 [GRCh38]
Chr3:182790530 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.1682-246_1682-242del deletion not provided [RCV001595166] Chr3:183026046..183026050 [GRCh38]
Chr3:182743834..182743838 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.1268-161C>T single nucleotide variant not provided [RCV001659617] Chr3:183039296 [GRCh38]
Chr3:182757084 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.1083+320del deletion not provided [RCV001594138] Chr3:183045093 [GRCh38]
Chr3:182762881 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.89+42G>A single nucleotide variant not provided [RCV001675292] Chr3:183099310 [GRCh38]
Chr3:182817098 [GRCh37]
Chr3:3q27.1
benign
NC_000003.12:g.183099673dup duplication not provided [RCV001715565] Chr3:183099668..183099669 [GRCh38]
Chr3:182817456..182817457 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.492-126G>A single nucleotide variant not provided [RCV001695045] Chr3:183071483 [GRCh38]
Chr3:182789271 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.*90G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001143985] Chr3:183015348 [GRCh38]
Chr3:182733136 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1527C>A (p.Cys509Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV004570320]|not provided [RCV001093261] Chr3:183037285 [GRCh38]
Chr3:182755073 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1705A>T (p.Asn569Tyr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001047402]|Inborn genetic diseases [RCV002552620] Chr3:183025781 [GRCh38]
Chr3:182743569 [GRCh37]
Chr3:3q27.1
uncertain significance
NC_000003.12:g.(?_183092399)_(183094615_?)dup duplication 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001033022] Chr3:182810187..182812403 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.873+337G>A single nucleotide variant not provided [RCV001695614] Chr3:183056974 [GRCh38]
Chr3:182774762 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001070728]|Inborn genetic diseases [RCV002554607]|MCCC1-related disorder [RCV003963033] Chr3:183017306 [GRCh38]
Chr3:182735094 [GRCh37]
Chr3:3q27.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020166.5(MCCC1):c.455C>T (p.Pro152Leu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001034783] Chr3:183072402 [GRCh38]
Chr3:182790190 [GRCh37]
Chr3:3q27.1
likely pathogenic|uncertain significance
NM_020166.5(MCCC1):c.227_228del (p.Val76fs) microsatellite 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001214771] Chr3:183092454..183092455 [GRCh38]
Chr3:182810242..182810243 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.1115A>C (p.Gln372Pro) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001061122]|MCCC1-related disorder [RCV003906167]|not specified [RCV002282445] Chr3:183041719 [GRCh38]
Chr3:182759507 [GRCh37]
Chr3:3q27.1
likely pathogenic|uncertain significance
NM_020166.5(MCCC1):c.387C>A (p.Cys129Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001220421] Chr3:183072470 [GRCh38]
Chr3:182790258 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.280G>A (p.Glu94Lys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001054400] Chr3:183086782 [GRCh38]
Chr3:182804570 [GRCh37]
Chr3:3q27.1
uncertain significance
NC_000003.12:g.(?_183092389)_(183092565_?)del deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001033389] Chr3:182810177..182810353 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1732-1G>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001064711] Chr3:183022555 [GRCh38]
Chr3:182740343 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1268-7A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001201806]|not provided [RCV001751369] Chr3:183039142 [GRCh38]
Chr3:182756930 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.90-1G>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001063409] Chr3:183094606 [GRCh38]
Chr3:182812394 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1797A>G (p.Lys599=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002001870] Chr3:183022489 [GRCh38]
Chr3:182740277 [GRCh37]
Chr3:3q27.1
likely benign|uncertain significance
NM_020166.5(MCCC1):c.1083+304dup duplication not provided [RCV001641596] Chr3:183045092..183045093 [GRCh38]
Chr3:182762880..182762881 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.373A>G (p.Ile125Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002542872]|Methylcrotonyl-CoA carboxylase deficiency [RCV001277563] Chr3:183072484 [GRCh38]
Chr3:182790272 [GRCh37]
Chr3:3q27.1
uncertain significance
GRCh37/hg19 3q26.33-27.2(chr3:181171210-184706091)x1 copy number loss Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267847] Chr3:181171210..184706091 [GRCh37]
Chr3:3q26.33-27.2
pathogenic
GRCh37/hg19 3q26.33-27.1(chr3:180834336-183551661)x1 copy number loss Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267852] Chr3:180834336..183551661 [GRCh37]
Chr3:3q26.33-27.1
pathogenic
NM_020166.5(MCCC1):c.898A>G (p.Lys300Glu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001336480]|Inborn genetic diseases [RCV004639582] Chr3:183052216 [GRCh38]
Chr3:182770004 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.848AGA[1] (p.Lys284del) microsatellite 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001310013] Chr3:183057331..183057333 [GRCh38]
Chr3:182775119..182775121 [GRCh37]
Chr3:3q27.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_020166.5(MCCC1):c.2056A>G (p.Ile686Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001327311] Chr3:183015560 [GRCh38]
Chr3:182733348 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1040C>A (p.Thr347Asn) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001314729] Chr3:183045456 [GRCh38]
Chr3:182763244 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1444G>A (p.Gly482Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001337701] Chr3:183037368 [GRCh38]
Chr3:182755156 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.2024T>C (p.Met675Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001308038] Chr3:183017291 [GRCh38]
Chr3:182735079 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.310C>A (p.Gln104Lys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001331095] Chr3:183086752 [GRCh38]
Chr3:182804540 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1570G>A (p.Asp524Asn) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001337604] Chr3:183037242 [GRCh38]
Chr3:182755030 [GRCh37]
Chr3:3q27.1
likely benign|uncertain significance
NM_020166.5(MCCC1):c.762-2_762-1del deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001383341] Chr3:183057423..183057424 [GRCh38]
Chr3:182775211..182775212 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1108T>C (p.Leu370=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001433749] Chr3:183041726 [GRCh38]
Chr3:182759514 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.2089G>A (p.Val697Met) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002486067]|Methylcrotonyl-CoA carboxylase deficiency [RCV001280048] Chr3:183015527 [GRCh38]
Chr3:182733315 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1842G>A (p.Leu614=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001430892]|Methylcrotonyl-CoA carboxylase deficiency [RCV001280049] Chr3:183022444 [GRCh38]
Chr3:182740232 [GRCh37]
Chr3:3q27.1
likely benign|uncertain significance
NM_020166.5(MCCC1):c.711G>T (p.Lys237Asn) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001310014] Chr3:183071049 [GRCh38]
Chr3:182788837 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.530T>C (p.Val177Ala) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001320640] Chr3:183071319 [GRCh38]
Chr3:182789107 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.877G>A (p.Gly293Ser) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001325451]|Inborn genetic diseases [RCV004639568] Chr3:183052237 [GRCh38]
Chr3:182770025 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1268-90C>T single nucleotide variant not provided [RCV001581641] Chr3:183039225 [GRCh38]
Chr3:182757013 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.596G>T (p.Gly199Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001371536] Chr3:183071253 [GRCh38]
Chr3:182789041 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1554G>A (p.Lys518=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001346730] Chr3:183037258 [GRCh38]
Chr3:182755046 [GRCh37]
Chr3:3q27.1
likely benign|uncertain significance
NM_020166.5(MCCC1):c.314A>G (p.Gln105Arg) single nucleotide variant Inborn genetic diseases [RCV004035450]|Methylcrotonyl-CoA carboxylase deficiency [RCV001277565] Chr3:183086748 [GRCh38]
Chr3:182804536 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.918A>C (p.Ala306=) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001277560] Chr3:183052196 [GRCh38]
Chr3:182769984 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1709A>G (p.His570Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002541729]|Methylcrotonyl-CoA carboxylase deficiency [RCV001280052] Chr3:183025777 [GRCh38]
Chr3:182743565 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1644G>A (p.Ser548=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003600407]|Methylcrotonyl-CoA carboxylase deficiency [RCV001280053] Chr3:183034028 [GRCh38]
Chr3:182751816 [GRCh37]
Chr3:3q27.1
likely benign|uncertain significance
NM_020166.5(MCCC1):c.1475A>G (p.His492Arg) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001280054] Chr3:183037337 [GRCh38]
Chr3:182755125 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1715G>C (p.Gly572Ala) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002486068]|Methylcrotonyl-CoA carboxylase deficiency [RCV001280051] Chr3:183025771 [GRCh38]
Chr3:182743559 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.328A>G (p.Met110Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001324599] Chr3:183086734 [GRCh38]
Chr3:182804522 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.608T>C (p.Met203Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001360064] Chr3:183071241 [GRCh38]
Chr3:182789029 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.256T>C (p.Ser86Pro) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001366749] Chr3:183092426 [GRCh38]
Chr3:182810214 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.272T>C (p.Met91Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001306025] Chr3:183092410 [GRCh38]
Chr3:182810198 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.492-4A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002069402]|Methylcrotonyl-CoA carboxylase deficiency [RCV001277561] Chr3:183071361 [GRCh38]
Chr3:182789149 [GRCh37]
Chr3:3q27.1
likely benign|uncertain significance
NM_020166.5(MCCC1):c.1367G>A (p.Arg456His) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001871590]|Methylcrotonyl-CoA carboxylase deficiency [RCV001280056] Chr3:183039036 [GRCh38]
Chr3:182756824 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.247G>C (p.Asp83His) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001301558] Chr3:183092435 [GRCh38]
Chr3:182810223 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.71G>C (p.Ser24Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001325208]|Inborn genetic diseases [RCV004035151] Chr3:183099370 [GRCh38]
Chr3:182817158 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1147G>A (p.Glu383Lys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001325461]|not specified [RCV002509663] Chr3:183041687 [GRCh38]
Chr3:182759475 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.2136C>T (p.Val712=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001396302] Chr3:183015480 [GRCh38]
Chr3:182733268 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.219A>C (p.Val73=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001414139] Chr3:183092463 [GRCh38]
Chr3:182810251 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1681+77C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001527496]|not provided [RCV001685427] Chr3:183033914 [GRCh38]
Chr3:182751702 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.369+96C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001527516]|not provided [RCV001597295] Chr3:183086597 [GRCh38]
Chr3:182804385 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.1023A>G (p.Gln341=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001490137] Chr3:183045473 [GRCh38]
Chr3:182763261 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.660A>C (p.Ser220=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001502656] Chr3:183071100 [GRCh38]
Chr3:182788888 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.156C>T (p.Val52=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001417184] Chr3:183092526 [GRCh38]
Chr3:182810314 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.411A>G (p.Glu137=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001394311] Chr3:183072446 [GRCh38]
Chr3:182790234 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.603T>C (p.Pro201=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001470154] Chr3:183071246 [GRCh38]
Chr3:182789034 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1623T>C (p.Ser541=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001451581] Chr3:183034049 [GRCh38]
Chr3:182751837 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.78C>T (p.Leu26=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001465499] Chr3:183099363 [GRCh38]
Chr3:182817151 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.99G>A (p.Val33=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001451862] Chr3:183094596 [GRCh38]
Chr3:182812384 [GRCh37]
Chr3:3q27.1
likely benign
NC_000003.11:g.(?_182817140)_(182817228_?)del deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001380715] Chr3:182817140..182817228 [GRCh37]
Chr3:3q27.1
pathogenic
NC_000003.11:g.(?_182733206)_(182733374_?)del deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001380716] Chr3:182733206..182733374 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.759G>A (p.Pro253=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001425320] Chr3:183071001 [GRCh38]
Chr3:182788789 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.384A>C (p.Gly128=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001482514]|MCCC1-related disorder [RCV003980412] Chr3:183072473 [GRCh38]
Chr3:182790261 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1267+9A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001471406] Chr3:183041558 [GRCh38]
Chr3:182759346 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1431A>G (p.Pro477=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001459384] Chr3:183037381 [GRCh38]
Chr3:182755169 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.556del (p.Gln186fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001390502] Chr3:183071293 [GRCh38]
Chr3:182789081 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1203A>G (p.Pro401=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001492874] Chr3:183041631 [GRCh38]
Chr3:182759419 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.492-7T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001406098] Chr3:183071364 [GRCh38]
Chr3:182789152 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1749C>T (p.Phe583=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001393262] Chr3:183022537 [GRCh38]
Chr3:182740325 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1113C>T (p.Ser371=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001468522] Chr3:183041721 [GRCh38]
Chr3:182759509 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1410A>G (p.Leu470=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001493185] Chr3:183037402 [GRCh38]
Chr3:182755190 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1083+9A>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001453470] Chr3:183045404 [GRCh38]
Chr3:182763192 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1681+9T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001424053] Chr3:183033982 [GRCh38]
Chr3:182751770 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.2079A>T (p.Thr693=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001416445] Chr3:183015537 [GRCh38]
Chr3:182733325 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1977+7A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001403101] Chr3:183020123 [GRCh38]
Chr3:182737911 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.123C>A (p.Tyr41Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001382304] Chr3:183094572 [GRCh38]
Chr3:182812360 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.183C>T (p.Ala61=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001436383] Chr3:183092499 [GRCh38]
Chr3:182810287 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1272C>T (p.Asp424=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001402484] Chr3:183039131 [GRCh38]
Chr3:182756919 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1205T>G (p.Leu402Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001387388] Chr3:183041629 [GRCh38]
Chr3:182759417 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.2010G>A (p.Ala670=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001407441]|not provided [RCV004711595] Chr3:183017305 [GRCh38]
Chr3:182735093 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.639+5G>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001378210] Chr3:183071205 [GRCh38]
Chr3:182788993 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.640-10T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001393280] Chr3:183071130 [GRCh38]
Chr3:182788918 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1317G>A (p.Val439=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001445425] Chr3:183039086 [GRCh38]
Chr3:182756874 [GRCh37]
Chr3:3q27.1
likely benign
NC_000003.11:g.(?_182810187)_(182810343_?)del deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001380717] Chr3:182810187..182810343 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.313C>T (p.Gln105Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001380802] Chr3:183086749 [GRCh38]
Chr3:182804537 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.1827G>A (p.Ala609=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001447928] Chr3:183022459 [GRCh38]
Chr3:182740247 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1305G>A (p.Ala435=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001437004] Chr3:183039098 [GRCh38]
Chr3:182756886 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1449C>T (p.Asn483=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001424740] Chr3:183037363 [GRCh38]
Chr3:182755151 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1732-208T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001527495] Chr3:183022762 [GRCh38]
Chr3:182740550 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.874-95A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001527515]|not provided [RCV004711707] Chr3:183052335 [GRCh38]
Chr3:182770123 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.762-5T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001494451] Chr3:183057427 [GRCh38]
Chr3:182775215 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1978-57G>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001527493]|not provided [RCV001673113] Chr3:183017394 [GRCh38]
Chr3:182735182 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.1978-86A>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001527494]|not provided [RCV001655800] Chr3:183017423 [GRCh38]
Chr3:182735211 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.857T>C (p.Ile286Thr) single nucleotide variant not provided [RCV001583975] Chr3:183057327 [GRCh38]
Chr3:182775115 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1870-134T>C single nucleotide variant not provided [RCV001673925] Chr3:183020371 [GRCh38]
Chr3:182738159 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.2049+10T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001483100] Chr3:183017256 [GRCh38]
Chr3:182735044 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.90-7G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001452190] Chr3:183094612 [GRCh38]
Chr3:182812400 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.762-182A>T single nucleotide variant not provided [RCV001670395] Chr3:183057604 [GRCh38]
Chr3:182775392 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.66C>G (p.Leu22=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001500723] Chr3:183099375 [GRCh38]
Chr3:182817163 [GRCh37]
Chr3:3q27.1
likely benign
NC_000003.12:g.183099917C>A single nucleotide variant not provided [RCV001683816] Chr3:183099917 [GRCh38]
Chr3:182817705 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.1083+10T>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001464052] Chr3:183045403 [GRCh38]
Chr3:182763191 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1761T>C (p.Gly587=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001460989] Chr3:183022525 [GRCh38]
Chr3:182740313 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1268-89G>A single nucleotide variant not provided [RCV001583461] Chr3:183039224 [GRCh38]
Chr3:182757012 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1268-2A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001385129] Chr3:183039137 [GRCh38]
Chr3:182756925 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1978-8del deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001504460]|MCCC1-related disorder [RCV003956117] Chr3:183017345 [GRCh38]
Chr3:182735133 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.618C>T (p.Ala206=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001465463] Chr3:183071231 [GRCh38]
Chr3:182789019 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.2049+9A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001419409] Chr3:183017257 [GRCh38]
Chr3:182735045 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1458T>C (p.Thr486=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001485916] Chr3:183037354 [GRCh38]
Chr3:182755142 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1212C>T (p.His404=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001403493] Chr3:183041622 [GRCh38]
Chr3:182759410 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.2172G>A (p.Ser724=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001500228]|MCCC1-related disorder [RCV003948465] Chr3:183015444 [GRCh38]
Chr3:182733232 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.138A>C (p.Gly46=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001461129] Chr3:183092544 [GRCh38]
Chr3:182810332 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1233C>T (p.Asp411=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001429207] Chr3:183041601 [GRCh38]
Chr3:182759389 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.588G>A (p.Arg196=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001488760] Chr3:183071261 [GRCh38]
Chr3:182789049 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.2082A>G (p.Val694=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001419922] Chr3:183015534 [GRCh38]
Chr3:182733322 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.762-9T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001423918] Chr3:183057431 [GRCh38]
Chr3:182775219 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1417C>T (p.Leu473=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001398536] Chr3:183037395 [GRCh38]
Chr3:182755183 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.2T>C (p.Met1Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001377562] Chr3:183099439 [GRCh38]
Chr3:182817227 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.165A>G (p.Ala55=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001489349] Chr3:183092517 [GRCh38]
Chr3:182810305 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.5C>A (p.Ala2Glu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003109196] Chr3:183099436 [GRCh38]
Chr3:182817224 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1010A>G (p.Asn337Ser) single nucleotide variant not provided [RCV001756466] Chr3:183045486 [GRCh38]
Chr3:182763274 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1397A>G (p.Asn466Ser) single nucleotide variant not provided [RCV001754794] Chr3:183037415 [GRCh38]
Chr3:182755203 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1943_1944dup (p.Pro649fs) duplication 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001782420] Chr3:183020162..183020163 [GRCh38]
Chr3:182737950..182737951 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1595-96C>T single nucleotide variant not provided [RCV001786296] Chr3:183034173 [GRCh38]
Chr3:182751961 [GRCh37]
Chr3:3q27.1
likely benign
GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3 copy number gain not provided [RCV001795540] Chr3:175119199..187592480 [GRCh37]
Chr3:3q26.31-27.3
pathogenic
NM_020166.5(MCCC1):c.382G>T (p.Gly128Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001782419] Chr3:183072475 [GRCh38]
Chr3:182790263 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1254_1255del (p.Gly419fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001783634] Chr3:183041579..183041580 [GRCh38]
Chr3:182759367..182759368 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1681+92_1681+100dup duplication not provided [RCV001776644] Chr3:183033890..183033891 [GRCh38]
Chr3:182751678..182751679 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1226G>T (p.Arg409Leu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001968323] Chr3:183041608 [GRCh38]
Chr3:182759396 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1378-1G>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002045717] Chr3:183037435 [GRCh38]
Chr3:182755223 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.135A>T (p.Thr45=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002042688] Chr3:183094560 [GRCh38]
Chr3:182812348 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.310C>T (p.Gln104Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001949048] Chr3:183086752 [GRCh38]
Chr3:182804540 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.6G>A (p.Ala2=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002008951] Chr3:183099435 [GRCh38]
Chr3:182817223 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.700G>A (p.Glu234Lys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001890746] Chr3:183071060 [GRCh38]
Chr3:182788848 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1377+6T>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002042765] Chr3:183039020 [GRCh38]
Chr3:182756808 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1288T>G (p.Tyr430Asp) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002003750] Chr3:183039115 [GRCh38]
Chr3:182756903 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1928A>G (p.Gln643Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001947206] Chr3:183020179 [GRCh38]
Chr3:182737967 [GRCh37]
Chr3:3q27.1
uncertain significance
GRCh37/hg19 3q26.33-27.3(chr3:182189525-187212935) copy number loss not specified [RCV002053393] Chr3:182189525..187212935 [GRCh37]
Chr3:3q26.33-27.3
pathogenic
NM_020166.5(MCCC1):c.2015A>G (p.Asp672Gly) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002021470]|Inborn genetic diseases [RCV003355785] Chr3:183017300 [GRCh38]
Chr3:182735088 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.956G>A (p.Gly319Glu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001967490] Chr3:183045540 [GRCh38]
Chr3:182763328 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1802C>T (p.Ser601Phe) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002021170] Chr3:183022484 [GRCh38]
Chr3:182740272 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.188G>A (p.Arg63Lys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001892307] Chr3:183092494 [GRCh38]
Chr3:182810282 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.739G>A (p.Glu247Lys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001894538] Chr3:183071021 [GRCh38]
Chr3:182788809 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.221_224del (p.Gln74fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001967531] Chr3:183092458..183092461 [GRCh38]
Chr3:182810246..182810249 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1422_1423delinsAA (p.Gly475Ser) indel 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002023001] Chr3:183037389..183037390 [GRCh38]
Chr3:182755177..182755178 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.230C>T (p.Ala77Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001893441] Chr3:183092452 [GRCh38]
Chr3:182810240 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1264C>T (p.Gln422Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001949253] Chr3:183041570 [GRCh38]
Chr3:182759358 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1682A>G (p.Asn561Ser) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001945877] Chr3:183025804 [GRCh38]
Chr3:182743592 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.738C>A (p.Ile246=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002023971] Chr3:183071022 [GRCh38]
Chr3:182788810 [GRCh37]
Chr3:3q27.1
likely benign|uncertain significance
NM_020166.5(MCCC1):c.1417C>G (p.Leu473Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001968057]|not specified [RCV002271706] Chr3:183037395 [GRCh38]
Chr3:182755183 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.487A>C (p.Lys163Gln) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001948645] Chr3:183072370 [GRCh38]
Chr3:182790158 [GRCh37]
Chr3:3q27.1
uncertain significance
GRCh37/hg19 3q27.1(chr3:182746355-182804565) copy number loss not specified [RCV002053394] Chr3:182746355..182804565 [GRCh37]
Chr3:3q27.1
uncertain significance
NC_000003.11:g.(?_182733226)_(182817228_?)dup duplication 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001946212] Chr3:182733226..182817228 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.640-7C>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001889955] Chr3:183071127 [GRCh38]
Chr3:182788915 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1262G>A (p.Arg421Gln) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002005761] Chr3:183041572 [GRCh38]
Chr3:182759360 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.635del (p.Gly212fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002037961] Chr3:183071214 [GRCh38]
Chr3:182789002 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.1843G>C (p.Glu615Gln) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002019345] Chr3:183022443 [GRCh38]
Chr3:182740231 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1594+1G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001999544] Chr3:183037217 [GRCh38]
Chr3:182755005 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.873_873+3dup duplication 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001961163] Chr3:183057307..183057308 [GRCh38]
Chr3:182775095..182775096 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1594+6G>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001975716] Chr3:183037212 [GRCh38]
Chr3:182755000 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1160A>G (p.Tyr387Cys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002038238] Chr3:183041674 [GRCh38]
Chr3:182759462 [GRCh37]
Chr3:3q27.1
likely benign|uncertain significance
NM_020166.5(MCCC1):c.389G>T (p.Gly130Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001925065] Chr3:183072468 [GRCh38]
Chr3:182790256 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1853_1856del (p.Ile618fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001918239] Chr3:183022430..183022433 [GRCh38]
Chr3:182740218..182740221 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.401A>G (p.Glu134Gly) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002039088] Chr3:183072456 [GRCh38]
Chr3:182790244 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.263A>G (p.His88Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001918453] Chr3:183092419 [GRCh38]
Chr3:182810207 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.435del (p.Gly146fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001884741] Chr3:183072422 [GRCh38]
Chr3:182790210 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.283G>A (p.Ala95Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001942948] Chr3:183086779 [GRCh38]
Chr3:182804567 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.539G>T (p.Gly180Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001956382] Chr3:183071310 [GRCh38]
Chr3:182789098 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.134C>T (p.Thr45Ile) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001932461] Chr3:183094561 [GRCh38]
Chr3:182812349 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.763C>A (p.His255Asn) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002032081] Chr3:183057421 [GRCh38]
Chr3:182775209 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.950G>T (p.Gly317Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001878794] Chr3:183052164 [GRCh38]
Chr3:182769952 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.2050-2A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002029510] Chr3:183015568 [GRCh38]
Chr3:182733356 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.59A>G (p.His20Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001916693] Chr3:183099382 [GRCh38]
Chr3:182817170 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1127C>T (p.Thr376Ile) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002033517] Chr3:183041707 [GRCh38]
Chr3:182759495 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.262C>T (p.His88Tyr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001971840] Chr3:183092420 [GRCh38]
Chr3:182810208 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.350C>T (p.Ala117Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001934225] Chr3:183086712 [GRCh38]
Chr3:182804500 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1681+2T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001989030]|MCCC1-related disorder [RCV003402023] Chr3:183033989 [GRCh38]
Chr3:182751777 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.273+4T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002012267] Chr3:183092405 [GRCh38]
Chr3:182810193 [GRCh37]
Chr3:3q27.1
uncertain significance
NC_000003.11:g.(?_182790144)_(182817385_?)del deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002047579] Chr3:182790144..182817385 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.2115del (p.Asn706fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001866803] Chr3:183015501 [GRCh38]
Chr3:182733289 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.415G>A (p.Ala139Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002011179] Chr3:183072442 [GRCh38]
Chr3:182790230 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.925G>A (p.Ala309Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001932034] Chr3:183052189 [GRCh38]
Chr3:182769977 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1792del (p.Tyr597_Leu598insTer) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001972462] Chr3:183022494 [GRCh38]
Chr3:182740282 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.1651A>T (p.Arg551Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001972566] Chr3:183034021 [GRCh38]
Chr3:182751809 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1595-2A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002033638] Chr3:183034079 [GRCh38]
Chr3:182751867 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.872C>A (p.Ala291Glu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001921468] Chr3:183057312 [GRCh38]
Chr3:182775100 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.534_535delinsTT (p.Glu179Ter) indel 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001972774] Chr3:183071314..183071315 [GRCh38]
Chr3:182789102..182789103 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.454C>T (p.Pro152Ser) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001937172] Chr3:183072403 [GRCh38]
Chr3:182790191 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.89+1G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002027189] Chr3:183099351 [GRCh38]
Chr3:182817139 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1084-1G>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002010633] Chr3:183041751 [GRCh38]
Chr3:182759539 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.830G>A (p.Ser277Asn) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002029824] Chr3:183057354 [GRCh38]
Chr3:182775142 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1474C>T (p.His492Tyr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001867735] Chr3:183037338 [GRCh38]
Chr3:182755126 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.215G>C (p.Gly72Ala) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001922865] Chr3:183092467 [GRCh38]
Chr3:182810255 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.955+1G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001959352] Chr3:183052158 [GRCh38]
Chr3:182769946 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1385G>T (p.Gly462Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002035187] Chr3:183037427 [GRCh38]
Chr3:182755215 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.951_952del (p.Ala318fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001953706] Chr3:183052162..183052163 [GRCh38]
Chr3:182769950..182769951 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.762G>A (p.Arg254=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001996154] Chr3:183057422 [GRCh38]
Chr3:182775210 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1236T>G (p.Pro412=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001993392] Chr3:183041598 [GRCh38]
Chr3:182759386 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.302C>T (p.Ala101Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001996852] Chr3:183086760 [GRCh38]
Chr3:182804548 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1333C>T (p.Gln445Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001975056] Chr3:183039070 [GRCh38]
Chr3:182756858 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1123A>G (p.Ile375Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001976241] Chr3:183041711 [GRCh38]
Chr3:182759499 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.804del (p.Val269fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001934714] Chr3:183057380 [GRCh38]
Chr3:182775168 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.200C>T (p.Thr67Ile) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001961276] Chr3:183092482 [GRCh38]
Chr3:182810270 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1074G>A (p.Trp358Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001956381] Chr3:183045422 [GRCh38]
Chr3:182763210 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.806T>C (p.Val269Ala) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001971880] Chr3:183057378 [GRCh38]
Chr3:182775166 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1908C>G (p.Tyr636Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001877254] Chr3:183020199 [GRCh38]
Chr3:182737987 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.793C>T (p.His265Tyr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001870394] Chr3:183057391 [GRCh38]
Chr3:182775179 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1132C>T (p.Gln378Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001937351] Chr3:183041702 [GRCh38]
Chr3:182759490 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1134_1136dup (p.Gly379dup) duplication 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002009604] Chr3:183041697..183041698 [GRCh38]
Chr3:182759485..182759486 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.491G>A (p.Ser164Asn) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001958062] Chr3:183072366 [GRCh38]
Chr3:182790154 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1977+4dup duplication 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001866539] Chr3:183020125..183020126 [GRCh38]
Chr3:182737913..182737914 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.497C>T (p.Ser166Phe) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001992986] Chr3:183071352 [GRCh38]
Chr3:182789140 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1225C>G (p.Arg409Gly) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001931825] Chr3:183041609 [GRCh38]
Chr3:182759397 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1129_1130del (p.Leu377fs) microsatellite 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001918827] Chr3:183041704..183041705 [GRCh38]
Chr3:182759492..182759493 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.452G>A (p.Gly151Asp) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001978073] Chr3:183072405 [GRCh38]
Chr3:182790193 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1800T>C (p.Cys600=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002130096] Chr3:183022486 [GRCh38]
Chr3:182740274 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1068G>A (p.Val356=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002126641] Chr3:183045428 [GRCh38]
Chr3:182763216 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1221T>G (p.Thr407=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002210564] Chr3:183041613 [GRCh38]
Chr3:182759401 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1377+17C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002205027] Chr3:183039009 [GRCh38]
Chr3:182756797 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1833G>A (p.Leu611=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002126088] Chr3:183022453 [GRCh38]
Chr3:182740241 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.336A>G (p.Lys112=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002072591] Chr3:183086726 [GRCh38]
Chr3:182804514 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1569C>T (p.Thr523=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002188139] Chr3:183037243 [GRCh38]
Chr3:182755031 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.640-5C>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002128799] Chr3:183071125 [GRCh38]
Chr3:182788913 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.519T>C (p.Ala173=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002207104] Chr3:183071330 [GRCh38]
Chr3:182789118 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1377+18G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002129494] Chr3:183039008 [GRCh38]
Chr3:182756796 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.300C>T (p.Pro100=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002192210] Chr3:183086762 [GRCh38]
Chr3:182804550 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.492-5T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002148036] Chr3:183071362 [GRCh38]
Chr3:182789150 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.2172G>C (p.Ser724=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002190399] Chr3:183015444 [GRCh38]
Chr3:182733232 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1089A>G (p.Ala363=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002129320] Chr3:183041745 [GRCh38]
Chr3:182759533 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.462A>G (p.Pro154=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002213773] Chr3:183072395 [GRCh38]
Chr3:182790183 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1732-13del deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002096979] Chr3:183022567 [GRCh38]
Chr3:182740355 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.969T>C (p.Phe323=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002153754] Chr3:183045527 [GRCh38]
Chr3:182763315 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1858C>T (p.Leu620=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002153830] Chr3:183022428 [GRCh38]
Chr3:182740216 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1080T>C (p.Leu360=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002088820] Chr3:183045416 [GRCh38]
Chr3:182763204 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.89+13G>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002187842] Chr3:183099339 [GRCh38]
Chr3:182817127 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.956-10dup duplication 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002116159] Chr3:183045549..183045550 [GRCh38]
Chr3:182763337..182763338 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.492-6C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002106521] Chr3:183071363 [GRCh38]
Chr3:182789151 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.622C>A (p.Arg208=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002126213] Chr3:183071227 [GRCh38]
Chr3:182789015 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.639+11_639+12insTTCTTTTGGCAAAAACAAAAA insertion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002093265] Chr3:183071198..183071199 [GRCh38]
Chr3:182788986..182788987 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1512C>T (p.Ala504=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002191671] Chr3:183037300 [GRCh38]
Chr3:182755088 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1260A>G (p.Val420=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002186427] Chr3:183041574 [GRCh38]
Chr3:182759362 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.639+11G>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002194290] Chr3:183071199 [GRCh38]
Chr3:182788987 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1314C>T (p.Val438=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002215559] Chr3:183039089 [GRCh38]
Chr3:182756877 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1840C>T (p.Leu614=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002213489] Chr3:183022446 [GRCh38]
Chr3:182740234 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.51C>T (p.Asn17=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002113758] Chr3:183099390 [GRCh38]
Chr3:182817178 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.874-6del deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002132237]|not provided [RCV003438949] Chr3:183052246 [GRCh38]
Chr3:182770034 [GRCh37]
Chr3:3q27.1
benign|likely benign
NM_020166.5(MCCC1):c.648G>A (p.Arg216=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002159355] Chr3:183071112 [GRCh38]
Chr3:182788900 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.955+10G>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002083249] Chr3:183052149 [GRCh38]
Chr3:182769937 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1209G>C (p.Val403=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002141204] Chr3:183041625 [GRCh38]
Chr3:182759413 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.867C>A (p.Ala289=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002082609] Chr3:183057317 [GRCh38]
Chr3:182775105 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.69G>A (p.Pro23=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002182745] Chr3:183099372 [GRCh38]
Chr3:182817160 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.207A>G (p.Lys69=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002099909] Chr3:183092475 [GRCh38]
Chr3:182810263 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1539G>C (p.Leu513=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002198228] Chr3:183037273 [GRCh38]
Chr3:182755061 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1122A>G (p.Glu374=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002161998] Chr3:183041712 [GRCh38]
Chr3:182759500 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1185C>T (p.Phe395=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002143362] Chr3:183041649 [GRCh38]
Chr3:182759437 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.2050-17G>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002120271] Chr3:183015583 [GRCh38]
Chr3:182733371 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.87G>A (p.Pro29=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002160814] Chr3:183099354 [GRCh38]
Chr3:182817142 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1071G>A (p.Glu357=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002162766] Chr3:183045425 [GRCh38]
Chr3:182763213 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.761+14A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002220108] Chr3:183070985 [GRCh38]
Chr3:182788773 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1869+7T>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002218144] Chr3:183022410 [GRCh38]
Chr3:182740198 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.423T>G (p.Leu141=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002157421] Chr3:183072434 [GRCh38]
Chr3:182790222 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1977+9A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002135711] Chr3:183020121 [GRCh38]
Chr3:182737909 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.89+20C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002083745] Chr3:183099332 [GRCh38]
Chr3:182817120 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.342T>C (p.Ile114=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002141883] Chr3:183086720 [GRCh38]
Chr3:182804508 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.90-20C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002082471] Chr3:183094625 [GRCh38]
Chr3:182812413 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.66C>T (p.Leu22=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002103087] Chr3:183099375 [GRCh38]
Chr3:182817163 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.639+9G>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002182489] Chr3:183071201 [GRCh38]
Chr3:182788989 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1657A>G (p.Met553Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003110971] Chr3:183034015 [GRCh38]
Chr3:182751803 [GRCh37]
Chr3:3q27.1
uncertain significance
NC_000003.11:g.(?_182733226)_(184094097_?)del deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003116435]|ALG3-congenital disorder of glycosylation [RCV003116434] Chr3:182733226..184094097 [GRCh37]
Chr3:3q27.1
pathogenic|uncertain significance
NM_020166.5(MCCC1):c.1378-2A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003112801] Chr3:183037436 [GRCh38]
Chr3:182755224 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.984A>C (p.Lys328Asn) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003122006] Chr3:183045512 [GRCh38]
Chr3:182763300 [GRCh37]
Chr3:3q27.1
uncertain significance
NC_000003.11:g.(?_182769927)_(182817228_?)del deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003119961] Chr3:182769927..182817228 [GRCh37]
Chr3:3q27.1
pathogenic
NC_000003.11:g.(?_182756794)_(182763348_?)del deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003119962] Chr3:182756794..182763348 [GRCh37]
Chr3:3q27.1
pathogenic
NC_000003.11:g.(?_182810187)_(182812403_?)del deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003119963] Chr3:182810187..182812403 [GRCh37]
Chr3:3q27.1
pathogenic
NC_000003.11:g.(?_182754986)_(182775230_?)del deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003119964] Chr3:182754986..182775230 [GRCh37]
Chr3:3q27.1
pathogenic
NC_000003.11:g.(?_182754986)_(182770048_?)del deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003119965] Chr3:182754986..182770048 [GRCh37]
Chr3:3q27.1
pathogenic
GRCh37/hg19 3q26.33-27.2(chr3:181062175-185474509)x1 copy number loss not provided [RCV002291534] Chr3:181062175..185474509 [GRCh37]
Chr3:3q26.33-27.2
pathogenic
NM_020166.5(MCCC1):c.1083+208C>G single nucleotide variant not provided [RCV002286282] Chr3:183045205 [GRCh38]
Chr3:182762993 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.139A>G (p.Arg47Gly) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003096355]|Inborn genetic diseases [RCV004047568]|not provided [RCV002283285] Chr3:183092543 [GRCh38]
Chr3:182810331 [GRCh37]
Chr3:3q27.1
uncertain significance
GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3 copy number gain Isolated anorectal malformation [RCV002286610] Chr3:171558472..197871052 [GRCh37]
Chr3:3q26.31-29
likely pathogenic
NM_020166.5(MCCC1):c.684dup (p.Glu229fs) duplication 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002466916] Chr3:183071075..183071076 [GRCh38]
Chr3:182788863..182788864 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.223A>G (p.Thr75Ala) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002466781] Chr3:183092459 [GRCh38]
Chr3:182810247 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.956-7C>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002968161] Chr3:183045547 [GRCh38]
Chr3:182763335 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1139A>T (p.His380Leu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002301188] Chr3:183041695 [GRCh38]
Chr3:182759483 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.827_828del (p.Asp275_Cys276insTer) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002863059] Chr3:183057356..183057357 [GRCh38]
Chr3:182775144..182775145 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.2046G>C (p.Met682Ile) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002982536]|Inborn genetic diseases [RCV002967896] Chr3:183017269 [GRCh38]
Chr3:182735057 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1326A>C (p.Ala442=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002776380] Chr3:183039077 [GRCh38]
Chr3:182756865 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.639+18_639+19insAAGATTGTGCATGCTTCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA insertion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003033134] Chr3:183071191..183071192 [GRCh38]
Chr3:182788979..182788980 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1826C>T (p.Ala609Val) single nucleotide variant Inborn genetic diseases [RCV002905975] Chr3:183022460 [GRCh38]
Chr3:182740248 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1377+16C>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002756653] Chr3:183039010 [GRCh38]
Chr3:182756798 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.762-2A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002819597] Chr3:183057424 [GRCh38]
Chr3:182775212 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.955+6T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003014145] Chr3:183052153 [GRCh38]
Chr3:182769941 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.370-4C>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002756176] Chr3:183072491 [GRCh38]
Chr3:182790279 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1268-18del deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002756108] Chr3:183039153 [GRCh38]
Chr3:182756941 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1508C>A (p.Ala503Glu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003014804] Chr3:183037304 [GRCh38]
Chr3:182755092 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.491+14T>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002617218] Chr3:183072352 [GRCh38]
Chr3:182790140 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.2091G>A (p.Val697=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002994709] Chr3:183015525 [GRCh38]
Chr3:182733313 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.117G>A (p.Met39Ile) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002994713] Chr3:183094578 [GRCh38]
Chr3:182812366 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.137-7T>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002771593] Chr3:183092552 [GRCh38]
Chr3:182810340 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.622del (p.Arg208fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002750386] Chr3:183071227 [GRCh38]
Chr3:182789015 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.393del (p.Leu132fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002870730] Chr3:183072464 [GRCh38]
Chr3:182790252 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1721A>G (p.Tyr574Cys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002820523] Chr3:183025765 [GRCh38]
Chr3:182743553 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1594+12T>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003039231] Chr3:183037206 [GRCh38]
Chr3:182754994 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.2090T>C (p.Val697Ala) single nucleotide variant Inborn genetic diseases [RCV002849245] Chr3:183015526 [GRCh38]
Chr3:182733314 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1513A>G (p.Lys505Glu) single nucleotide variant Inborn genetic diseases [RCV002708198] Chr3:183037299 [GRCh38]
Chr3:182755087 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1630A>G (p.Arg544Gly) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003038561] Chr3:183034042 [GRCh38]
Chr3:182751830 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.649A>T (p.Ile217Phe) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003020626] Chr3:183071111 [GRCh38]
Chr3:182788899 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1731+6C>G single nucleotide variant Inborn genetic diseases [RCV002783783] Chr3:183025749 [GRCh38]
Chr3:182743537 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1731+1G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002846799] Chr3:183025754 [GRCh38]
Chr3:182743542 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1208T>G (p.Val403Gly) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002949737] Chr3:183041626 [GRCh38]
Chr3:182759414 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.136+9A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002621759] Chr3:183094550 [GRCh38]
Chr3:182812338 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1243A>C (p.Arg415=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002847149] Chr3:183041591 [GRCh38]
Chr3:182759379 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.495A>G (p.Thr165=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002591842] Chr3:183071354 [GRCh38]
Chr3:182789142 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.786T>G (p.Gly262=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002592231] Chr3:183057398 [GRCh38]
Chr3:182775186 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1098G>C (p.Glu366Asp) single nucleotide variant Inborn genetic diseases [RCV002844192] Chr3:183041736 [GRCh38]
Chr3:182759524 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.386G>A (p.Cys129Tyr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003111673]|Inborn genetic diseases [RCV002738304] Chr3:183072471 [GRCh38]
Chr3:182790259 [GRCh37]
Chr3:3q27.1
likely benign|uncertain significance
NM_020166.5(MCCC1):c.1989A>G (p.Lys663=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002979903] Chr3:183017326 [GRCh38]
Chr3:182735114 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.956-19A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002706012] Chr3:183045559 [GRCh38]
Chr3:182763347 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1450G>C (p.Val484Leu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002619370] Chr3:183037362 [GRCh38]
Chr3:182755150 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1580C>T (p.Thr527Ile) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002638263] Chr3:183037232 [GRCh38]
Chr3:182755020 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.437G>C (p.Gly146Ala) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002979314] Chr3:183072420 [GRCh38]
Chr3:182790208 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.272del (p.Met91fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003077725] Chr3:183092410 [GRCh38]
Chr3:182810198 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1363C>A (p.Leu455Ile) single nucleotide variant Inborn genetic diseases [RCV002846014] Chr3:183039040 [GRCh38]
Chr3:182756828 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.491+8T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002636325] Chr3:183072358 [GRCh38]
Chr3:182790146 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1645T>C (p.Tyr549His) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002572372] Chr3:183034027 [GRCh38]
Chr3:182751815 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.2003T>C (p.Val668Ala) single nucleotide variant Inborn genetic diseases [RCV002713706] Chr3:183017312 [GRCh38]
Chr3:182735100 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1725C>T (p.Ser575=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003085210] Chr3:183025761 [GRCh38]
Chr3:182743549 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1970T>C (p.Ile657Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002643556] Chr3:183020137 [GRCh38]
Chr3:182737925 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1226G>A (p.Arg409Gln) single nucleotide variant Inborn genetic diseases [RCV002915603] Chr3:183041608 [GRCh38]
Chr3:182759396 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.639+6A>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002766744] Chr3:183071204 [GRCh38]
Chr3:182788992 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.762-13del deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002745326] Chr3:183057435 [GRCh38]
Chr3:182775223 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.498C>T (p.Ser166=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002954295] Chr3:183071351 [GRCh38]
Chr3:182789139 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.301G>A (p.Ala101Thr) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003083305]|Inborn genetic diseases [RCV004071642] Chr3:183086761 [GRCh38]
Chr3:182804549 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1679del (p.Asn560fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003025197] Chr3:183033993 [GRCh38]
Chr3:182751781 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.955G>A (p.Gly319Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002800583] Chr3:183052159 [GRCh38]
Chr3:182769947 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.492-11C>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003023222] Chr3:183071368 [GRCh38]
Chr3:182789156 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.544C>A (p.His182Asn) single nucleotide variant Inborn genetic diseases [RCV002712384] Chr3:183071305 [GRCh38]
Chr3:182789093 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1418T>C (p.Leu473Pro) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002597274] Chr3:183037394 [GRCh38]
Chr3:182755182 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1186A>G (p.Met396Val) single nucleotide variant Inborn genetic diseases [RCV002763214] Chr3:183041648 [GRCh38]
Chr3:182759436 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1541dup (p.Leu515fs) duplication 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002624602] Chr3:183037270..183037271 [GRCh38]
Chr3:182755058..182755059 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.639+7T>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002982594] Chr3:183071203 [GRCh38]
Chr3:182788991 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1731+1del deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002642488] Chr3:183025754 [GRCh38]
Chr3:182743542 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.955+1G>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003057937] Chr3:183052158 [GRCh38]
Chr3:182769946 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.897A>G (p.Arg299=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002663843] Chr3:183052217 [GRCh38]
Chr3:182770005 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1324G>T (p.Ala442Ser) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002919248] Chr3:183039079 [GRCh38]
Chr3:182756867 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.804T>C (p.Ala268=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003085124] Chr3:183057380 [GRCh38]
Chr3:182775168 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.879T>G (p.Gly293=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003043115] Chr3:183052235 [GRCh38]
Chr3:182770023 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.956-15T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003007552] Chr3:183045555 [GRCh38]
Chr3:182763343 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1682-6A>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003023408] Chr3:183025810 [GRCh38]
Chr3:182743598 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.90-5T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002894825] Chr3:183094610 [GRCh38]
Chr3:182812398 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1681+2dup duplication 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003058593] Chr3:183033988..183033989 [GRCh38]
Chr3:182751776..182751777 [GRCh37]
Chr3:3q27.1
conflicting interpretations of pathogenicity|uncertain significance
NM_020166.5(MCCC1):c.17C>T (p.Ala6Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002596711] Chr3:183099424 [GRCh38]
Chr3:182817212 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1732-4dup duplication 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003025941] Chr3:183022557..183022558 [GRCh38]
Chr3:182740345..182740346 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.1701G>T (p.Thr567=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002829422] Chr3:183025785 [GRCh38]
Chr3:182743573 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.198C>T (p.Arg66=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002593766] Chr3:183092484 [GRCh38]
Chr3:182810272 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.365C>T (p.Ala122Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002664009] Chr3:183086697 [GRCh38]
Chr3:182804485 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.761+1G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002982252] Chr3:183070998 [GRCh38]
Chr3:182788786 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1682-17dup duplication 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002594253] Chr3:183025820..183025821 [GRCh38]
Chr3:182743608..182743609 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.369+2T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002574854] Chr3:183086691 [GRCh38]
Chr3:182804479 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.658_662del (p.Ser220fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002664326] Chr3:183071098..183071102 [GRCh38]
Chr3:182788886..182788890 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.826T>G (p.Cys276Gly) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002651350] Chr3:183057358 [GRCh38]
Chr3:182775146 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1909T>G (p.Leu637Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002941925] Chr3:183020198 [GRCh38]
Chr3:182737986 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.942T>A (p.Asn314Lys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003091073] Chr3:183052172 [GRCh38]
Chr3:182769960 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1782C>G (p.Asp594Glu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003065800]|MCCC1-related disorder [RCV003898748] Chr3:183022504 [GRCh38]
Chr3:182740292 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.43G>A (p.Glu15Lys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002675856] Chr3:183099398 [GRCh38]
Chr3:182817186 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.2024T>G (p.Met675Arg) single nucleotide variant Inborn genetic diseases [RCV002897245] Chr3:183017291 [GRCh38]
Chr3:182735079 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1619G>A (p.Ser540Asn) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002720254] Chr3:183034053 [GRCh38]
Chr3:182751841 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.2050-15C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002966623] Chr3:183015581 [GRCh38]
Chr3:182733369 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.627T>G (p.Gly209=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002857748] Chr3:183071222 [GRCh38]
Chr3:182789010 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1506T>C (p.Ala502=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002811301] Chr3:183037306 [GRCh38]
Chr3:182755094 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.2045T>G (p.Met682Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003009891] Chr3:183017270 [GRCh38]
Chr3:182735058 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1517A>C (p.Glu506Ala) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003060181] Chr3:183037295 [GRCh38]
Chr3:182755083 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.68C>T (p.Pro23Leu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002578378] Chr3:183099373 [GRCh38]
Chr3:182817161 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1464C>T (p.Phe488=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002898628] Chr3:183037348 [GRCh38]
Chr3:182755136 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.480G>A (p.Met160Ile) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002629474] Chr3:183072377 [GRCh38]
Chr3:182790165 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1273G>A (p.Glu425Lys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003060409] Chr3:183039130 [GRCh38]
Chr3:182756918 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.622C>T (p.Arg208Trp) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003063211] Chr3:183071227 [GRCh38]
Chr3:182789015 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.561A>G (p.Ser187=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002577723] Chr3:183071288 [GRCh38]
Chr3:182789076 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.801T>A (p.Asn267Lys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002630616] Chr3:183057383 [GRCh38]
Chr3:182775171 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1643C>T (p.Ser548Leu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002922769]|MCCC1-related disorder [RCV003418651] Chr3:183034029 [GRCh38]
Chr3:182751817 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1870-18T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003087093] Chr3:183020255 [GRCh38]
Chr3:182738043 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.2010G>T (p.Ala670=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002598415] Chr3:183017305 [GRCh38]
Chr3:182735093 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1594+3A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002651763] Chr3:183037215 [GRCh38]
Chr3:182755003 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.260T>G (p.Met87Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002810517] Chr3:183092422 [GRCh38]
Chr3:182810210 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.870A>G (p.Pro290=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002933869] Chr3:183057314 [GRCh38]
Chr3:182775102 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1589C>G (p.Ala530Gly) single nucleotide variant Inborn genetic diseases [RCV002934629] Chr3:183037223 [GRCh38]
Chr3:182755011 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1268-19C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002630002] Chr3:183039154 [GRCh38]
Chr3:182756942 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.220C>T (p.Gln74Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002576507] Chr3:183092462 [GRCh38]
Chr3:182810250 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.696G>A (p.Arg232=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002653906] Chr3:183071064 [GRCh38]
Chr3:182788852 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1404C>T (p.Asp468=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002635813] Chr3:183037408 [GRCh38]
Chr3:182755196 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1268-6T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003067613] Chr3:183039141 [GRCh38]
Chr3:182756929 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.766G>A (p.Val256Ile) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003052581] Chr3:183057418 [GRCh38]
Chr3:182775206 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.640-16A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003066588] Chr3:183071136 [GRCh38]
Chr3:182788924 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.395T>G (p.Leu132Arg) single nucleotide variant Inborn genetic diseases [RCV002723114] Chr3:183072462 [GRCh38]
Chr3:182790250 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.880A>G (p.Ile294Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003071351] Chr3:183052234 [GRCh38]
Chr3:182770022 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.24G>T (p.Ser8=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003066990] Chr3:183099417 [GRCh38]
Chr3:182817205 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.928G>C (p.Ala310Pro) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002654716] Chr3:183052186 [GRCh38]
Chr3:182769974 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.825C>A (p.Asp275Glu) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003071589] Chr3:183057359 [GRCh38]
Chr3:182775147 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.219A>G (p.Val73=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002608511] Chr3:183092463 [GRCh38]
Chr3:182810251 [GRCh37]
Chr3:3q27.1
likely benign
NC_000003.12:g.183057423del deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002605181] Chr3:183057422 [GRCh38]
Chr3:182775210 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1016G>T (p.Arg339Met) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002585108] Chr3:183045480 [GRCh38]
Chr3:182763268 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1870-2A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV002610439] Chr3:183020239 [GRCh38]
Chr3:182738027 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1582C>T (p.Leu528Phe) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003132609] Chr3:183037230 [GRCh38]
Chr3:182755018 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.151A>G (p.Lys51Glu) single nucleotide variant Inborn genetic diseases [RCV003204730] Chr3:183092531 [GRCh38]
Chr3:182810319 [GRCh37]
Chr3:3q27.1
uncertain significance
GRCh37/hg19 3q27.1(chr3:182759355-182759538)x1 copy number loss not provided [RCV003223158] Chr3:182759355..182759538 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1469C>T (p.Pro490Leu) single nucleotide variant Inborn genetic diseases [RCV003206217] Chr3:183037343 [GRCh38]
Chr3:182755131 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.776A>T (p.Gln259Leu) single nucleotide variant not provided [RCV003219032] Chr3:183057408 [GRCh38]
Chr3:182775196 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.570C>A (p.Cys190Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003229528] Chr3:183071279 [GRCh38]
Chr3:182789067 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.736A>G (p.Ile246Val) single nucleotide variant Inborn genetic diseases [RCV003285447] Chr3:183071024 [GRCh38]
Chr3:182788812 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.221_222delinsCC (p.Gln74Pro) indel not specified [RCV003324207] Chr3:183092460..183092461 [GRCh38]
Chr3:182810248..182810249 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1518del (p.Glu506fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003461829] Chr3:183037294 [GRCh38]
Chr3:182755082 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.826T>C (p.Cys276Arg) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003461837] Chr3:183057358 [GRCh38]
Chr3:182775146 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.341_344del (p.Ile114fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003461839] Chr3:183086718..183086721 [GRCh38]
Chr3:182804506..182804509 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1681+5G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003461840] Chr3:183033986 [GRCh38]
Chr3:182751774 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1114del (p.Gln372fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003470069] Chr3:183041720 [GRCh38]
Chr3:182759508 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1605_1606del (p.Pro536fs) microsatellite 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003470067] Chr3:183034066..183034067 [GRCh38]
Chr3:182751854..182751855 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1585C>T (p.Gln529Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003470056] Chr3:183037227 [GRCh38]
Chr3:182755015 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.2000_2001del (p.Lys667fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003470055] Chr3:183017314..183017315 [GRCh38]
Chr3:182735102..182735103 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1663_1664dup (p.Lys556fs) microsatellite 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003461832] Chr3:183034007..183034008 [GRCh38]
Chr3:182751795..182751796 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1750C>T (p.Gln584Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003461838] Chr3:183022536 [GRCh38]
Chr3:182740324 [GRCh37]
Chr3:3q27.1
pathogenic
Single allele duplication not provided [RCV003448704] Chr3:176412210..197847235 [GRCh37]
Chr3:3q26.32-29
pathogenic
NM_020166.5(MCCC1):c.191_192del (p.Val64fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003461833] Chr3:183092490..183092491 [GRCh38]
Chr3:182810278..182810279 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1869+1G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003470061] Chr3:183022416 [GRCh38]
Chr3:182740204 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.548del (p.Gly183fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003470058] Chr3:183071301 [GRCh38]
Chr3:182789089 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1699_1703del (p.Val566_Thr567insTer) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003470065] Chr3:183025783..183025787 [GRCh38]
Chr3:182743571..182743575 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1750_1756del (p.Gln584fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003470062] Chr3:183022530..183022536 [GRCh38]
Chr3:182740318..182740324 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.210_211insT (p.Leu71fs) insertion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003470063] Chr3:183092471..183092472 [GRCh38]
Chr3:182810259..182810260 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1729C>T (p.Gln577Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003470060] Chr3:183025757 [GRCh38]
Chr3:182743545 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1882G>T (p.Glu628Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003470068] Chr3:183020225 [GRCh38]
Chr3:182738013 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.716_720del (p.Ser238_Phe239insTer) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003470066] Chr3:183071040..183071044 [GRCh38]
Chr3:182788828..182788832 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1001T>A (p.Met334Lys) single nucleotide variant MCCC1-related disorder [RCV003399895] Chr3:183045495 [GRCh38]
Chr3:182763283 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1630del (p.Arg544fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003470059] Chr3:183034042 [GRCh38]
Chr3:182751830 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.700_701del (p.Glu234fs) microsatellite 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003470057] Chr3:183071059..183071060 [GRCh38]
Chr3:182788847..182788848 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1669delinsAA (p.Asp557fs) indel 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003461834] Chr3:183034003 [GRCh38]
Chr3:182751791 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.367C>T (p.Gln123Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003461835] Chr3:183086695 [GRCh38]
Chr3:182804483 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.89+2_89+4del deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003461836] Chr3:183099348..183099350 [GRCh38]
Chr3:182817136..182817138 [GRCh37]
Chr3:3q27.1
likely pathogenic
Single allele duplication not provided [RCV003448680] Chr3:140154329..197847235 [GRCh37]
Chr3:3q23-29
pathogenic
NM_020166.5(MCCC1):c.1682-1G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003461830] Chr3:183025805 [GRCh38]
Chr3:182743593 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.866C>T (p.Ala289Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003461831] Chr3:183057318 [GRCh38]
Chr3:182775106 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1306A>G (p.Lys436Glu) single nucleotide variant MCCC1-related disorder [RCV003394446] Chr3:183039097 [GRCh38]
Chr3:182756885 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1873G>T (p.Gly625Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003470064] Chr3:183020234 [GRCh38]
Chr3:182738022 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1722_1723del (p.Tyr574_Ser575delinsTer) microsatellite MCCC1-related disorder [RCV003400255] Chr3:183025763..183025764 [GRCh38]
Chr3:182743551..182743552 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1869+9T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003599964] Chr3:183022408 [GRCh38]
Chr3:182740196 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.264T>C (p.His88=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003601336] Chr3:183092418 [GRCh38]
Chr3:182810206 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.90-1G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003600227] Chr3:183094606 [GRCh38]
Chr3:182812394 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.258C>T (p.Ser86=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003600237] Chr3:183092424 [GRCh38]
Chr3:182810212 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1509A>C (p.Ala503=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003600595] Chr3:183037303 [GRCh38]
Chr3:182755091 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.948T>G (p.Val316=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003602355] Chr3:183052166 [GRCh38]
Chr3:182769954 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1681+7A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003602360] Chr3:183033984 [GRCh38]
Chr3:182751772 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.273+1G>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003601938] Chr3:183092408 [GRCh38]
Chr3:182810196 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1984G>T (p.Val662Phe) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003849047] Chr3:183017331 [GRCh38]
Chr3:182735119 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.491+10T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003601799] Chr3:183072356 [GRCh38]
Chr3:182790144 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.639+8T>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003602105] Chr3:183071202 [GRCh38]
Chr3:182788990 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1977+13C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003601880] Chr3:183020117 [GRCh38]
Chr3:182737905 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.285A>G (p.Ala95=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003600957] Chr3:183086777 [GRCh38]
Chr3:182804565 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1594+10G>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003602155] Chr3:183037208 [GRCh38]
Chr3:182754996 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1268-19C>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003601972] Chr3:183039154 [GRCh38]
Chr3:182756942 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1682-16C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003601123] Chr3:183025820 [GRCh38]
Chr3:182743608 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.12C>T (p.Ala4=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003601978] Chr3:183099429 [GRCh38]
Chr3:182817217 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1062C>T (p.Asp354=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003602465] Chr3:183045434 [GRCh38]
Chr3:182763222 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.603T>G (p.Pro201=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003602524] Chr3:183071246 [GRCh38]
Chr3:182789034 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.84G>A (p.Pro28=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003601237] Chr3:183099357 [GRCh38]
Chr3:182817145 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1587G>A (p.Gln529=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003601240] Chr3:183037225 [GRCh38]
Chr3:182755013 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1681+10G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003601261] Chr3:183033981 [GRCh38]
Chr3:182751769 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1848C>T (p.Asn616=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003600079] Chr3:183022438 [GRCh38]
Chr3:182740226 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1495A>G (p.Ser499Gly) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003600925] Chr3:183037317 [GRCh38]
Chr3:182755105 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1368T>G (p.Arg456=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003601383] Chr3:183039035 [GRCh38]
Chr3:182756823 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1133dup (p.His380fs) duplication 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003600050] Chr3:183041700..183041701 [GRCh38]
Chr3:182759488..182759489 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.813G>A (p.Leu271=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003876945] Chr3:183057371 [GRCh38]
Chr3:182775159 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1084-8A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003601025] Chr3:183041758 [GRCh38]
Chr3:182759546 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.274-18G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003601718] Chr3:183086806 [GRCh38]
Chr3:182804594 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.2160C>T (p.Asp720=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003599972] Chr3:183015456 [GRCh38]
Chr3:182733244 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1494C>T (p.Leu498=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003600618] Chr3:183037318 [GRCh38]
Chr3:182755106 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.874-15A>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003601094] Chr3:183052255 [GRCh38]
Chr3:182770043 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1020G>T (p.Leu340=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003601814] Chr3:183045476 [GRCh38]
Chr3:182763264 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.639+16C>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003601314] Chr3:183071194 [GRCh38]
Chr3:182788982 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.873+17G>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003601854] Chr3:183057294 [GRCh38]
Chr3:182775082 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1594+12T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003602028] Chr3:183037206 [GRCh38]
Chr3:182754994 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.699A>G (p.Arg233=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003826273] Chr3:183071061 [GRCh38]
Chr3:182788849 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1481A>T (p.Lys494Ile) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003601566] Chr3:183037331 [GRCh38]
Chr3:182755119 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.955+16C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003601594] Chr3:183052143 [GRCh38]
Chr3:182769931 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.79C>T (p.Leu27=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003600815] Chr3:183099362 [GRCh38]
Chr3:182817150 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1839C>T (p.Ile613=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003602231] Chr3:183022447 [GRCh38]
Chr3:182740235 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1126del (p.Thr376fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003879924] Chr3:183041708 [GRCh38]
Chr3:182759496 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1084-6T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003600270] Chr3:183041756 [GRCh38]
Chr3:182759544 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1731+7C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003600771] Chr3:183025748 [GRCh38]
Chr3:182743536 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1267+15A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003601304] Chr3:183041552 [GRCh38]
Chr3:182759340 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.874-4A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003601962] Chr3:183052244 [GRCh38]
Chr3:182770032 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1407C>T (p.Phe469=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003602251] Chr3:183037405 [GRCh38]
Chr3:182755193 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.369+12G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003600314] Chr3:183086681 [GRCh38]
Chr3:182804469 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.136+18T>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003601315] Chr3:183094541 [GRCh38]
Chr3:182812329 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1215C>T (p.Leu405=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003601610] Chr3:183041619 [GRCh38]
Chr3:182759407 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.139A>C (p.Arg47=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003600327] Chr3:183092543 [GRCh38]
Chr3:182810331 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.89+16A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003600857] Chr3:183099336 [GRCh38]
Chr3:182817124 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.639+16_639+17insCCACACACACAT insertion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003600861] Chr3:183071193..183071194 [GRCh38]
Chr3:182788981..182788982 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.89+12G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003602389] Chr3:183099340 [GRCh38]
Chr3:182817128 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.300C>A (p.Pro100=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003602394] Chr3:183086762 [GRCh38]
Chr3:182804550 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1777G>T (p.Gly593Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003599896] Chr3:183022509 [GRCh38]
Chr3:182740297 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1788T>C (p.Thr596=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003879555] Chr3:183022498 [GRCh38]
Chr3:182740286 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.89+17T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003599968] Chr3:183099335 [GRCh38]
Chr3:182817123 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1452G>T (p.Val484=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003600903] Chr3:183037360 [GRCh38]
Chr3:182755148 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1917T>C (p.Ser639=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003601024] Chr3:183020190 [GRCh38]
Chr3:182737978 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1215C>G (p.Leu405=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003602486] Chr3:183041619 [GRCh38]
Chr3:182759407 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.981A>C (p.Ser327=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003602491] Chr3:183045515 [GRCh38]
Chr3:182763303 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.960del (p.Val321fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003600049] Chr3:183045536 [GRCh38]
Chr3:182763324 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1254T>C (p.Thr418=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003600511] Chr3:183041580 [GRCh38]
Chr3:182759368 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.2163A>G (p.Lys721=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003601154] Chr3:183015453 [GRCh38]
Chr3:182733241 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.2050-19C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003600177] Chr3:183015585 [GRCh38]
Chr3:182733373 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.297C>T (p.Gly99=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003600686] Chr3:183086765 [GRCh38]
Chr3:182804553 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.137-18dup duplication 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003600191] Chr3:183092562..183092563 [GRCh38]
Chr3:182810350..182810351 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1378-17del deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003601211] Chr3:183037451 [GRCh38]
Chr3:182755239 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.138A>G (p.Gly46=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003877680] Chr3:183092544 [GRCh38]
Chr3:182810332 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1681+13T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003880737] Chr3:183033978 [GRCh38]
Chr3:182751766 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1143C>G (p.Ala381=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003498181] Chr3:183041691 [GRCh38]
Chr3:182759479 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.873+16A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003497462] Chr3:183057295 [GRCh38]
Chr3:182775083 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1682-12T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003498147] Chr3:183025816 [GRCh38]
Chr3:182743604 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1089A>T (p.Ala363=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003498457] Chr3:183041745 [GRCh38]
Chr3:182759533 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1003G>T (p.Glu335Ter) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003813716] Chr3:183045493 [GRCh38]
Chr3:182763281 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.491+13A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003498999] Chr3:183072353 [GRCh38]
Chr3:182790141 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.137-15T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003497800] Chr3:183092560 [GRCh38]
Chr3:182810348 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1734T>C (p.Ile578=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003498603] Chr3:183022552 [GRCh38]
Chr3:182740340 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1083+16C>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003498084] Chr3:183045397 [GRCh38]
Chr3:182763185 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.582C>T (p.His194=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003499807] Chr3:183071267 [GRCh38]
Chr3:182789055 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1482A>G (p.Lys494=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003499852] Chr3:183037330 [GRCh38]
Chr3:182755118 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1428C>T (p.His476=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003852462] Chr3:183037384 [GRCh38]
Chr3:182755172 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1875A>C (p.Gly625=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003497782] Chr3:183020232 [GRCh38]
Chr3:182738020 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.532del (p.Val178fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003498432] Chr3:183071317 [GRCh38]
Chr3:182789105 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.873+1G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003498846] Chr3:183057310 [GRCh38]
Chr3:182775098 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.89+8G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003499296] Chr3:183099344 [GRCh38]
Chr3:182817132 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.2014del (p.Asp672fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003499429] Chr3:183017301 [GRCh38]
Chr3:182735089 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1399A>G (p.Ile467Val) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003497384] Chr3:183037413 [GRCh38]
Chr3:182755201 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1378-17G>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003497544] Chr3:183037451 [GRCh38]
Chr3:182755239 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.864G>A (p.Glu288=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003838956] Chr3:183057320 [GRCh38]
Chr3:182775108 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1977+9A>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003498764] Chr3:183020121 [GRCh38]
Chr3:182737909 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1674dup (p.Lys559Ter) duplication 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003499095] Chr3:183033997..183033998 [GRCh38]
Chr3:182751785..182751786 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.611_612dup (p.Lys205fs) duplication 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003854993] Chr3:183071236..183071237 [GRCh38]
Chr3:182789024..182789025 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.33G>C (p.Leu11=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003498527] Chr3:183099408 [GRCh38]
Chr3:182817196 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.75G>A (p.Leu25=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003816053] Chr3:183099366 [GRCh38]
Chr3:182817154 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.170G>A (p.Arg57Lys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003839046] Chr3:183092512 [GRCh38]
Chr3:182810300 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1870-18_1870-16dup duplication 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003498182] Chr3:183020252..183020253 [GRCh38]
Chr3:182738040..182738041 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.176A>G (p.Glu59Gly) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003498208] Chr3:183092506 [GRCh38]
Chr3:182810294 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.136+18T>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003498248] Chr3:183094541 [GRCh38]
Chr3:182812329 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.369+14A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003499736] Chr3:183086679 [GRCh38]
Chr3:182804467 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1268-18C>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003815982] Chr3:183039153 [GRCh38]
Chr3:182756941 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.874-18T>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003498956] Chr3:183052258 [GRCh38]
Chr3:182770046 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.48del (p.Asn17fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003498877] Chr3:183099393 [GRCh38]
Chr3:182817181 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.90-12T>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003499496] Chr3:183094617 [GRCh38]
Chr3:182812405 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.448del (p.Phe149_Ile150insTer) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003499393] Chr3:183072409 [GRCh38]
Chr3:182790197 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.2049+15A>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003499678] Chr3:183017251 [GRCh38]
Chr3:182735039 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.2094C>T (p.Phe698=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003499565] Chr3:183015522 [GRCh38]
Chr3:182733310 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.90-19T>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003499658] Chr3:183094624 [GRCh38]
Chr3:182812412 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.873+17G>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003499665] Chr3:183057294 [GRCh38]
Chr3:182775082 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.274-20A>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003859245] Chr3:183086808 [GRCh38]
Chr3:182804596 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1779A>G (p.Gly593=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003846995] Chr3:183022507 [GRCh38]
Chr3:182740295 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.874-13A>T single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003866057] Chr3:183052253 [GRCh38]
Chr3:182770041 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.492-16C>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003864103] Chr3:183071373 [GRCh38]
Chr3:182789161 [GRCh37]
Chr3:3q27.1
likely benign
GRCh37/hg19 3q26.33-27.2(chr3:179391972-185539073)x1 copy number loss not specified [RCV003986441] Chr3:179391972..185539073 [GRCh37]
Chr3:3q26.33-27.2
pathogenic
NM_020166.5(MCCC1):c.1498C>A (p.Arg500=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003868593] Chr3:183037314 [GRCh38]
Chr3:182755102 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1594+9G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003871584] Chr3:183037209 [GRCh38]
Chr3:182754997 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.639+9G>A single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003871613] Chr3:183071201 [GRCh38]
Chr3:182788989 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.136+8C>G single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003867708] Chr3:183094551 [GRCh38]
Chr3:182812339 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1467C>T (p.Ile489=) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003861765] Chr3:183037345 [GRCh38]
Chr3:182755133 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.808T>C (p.Tyr270His) single nucleotide variant Inborn genetic diseases [RCV004419076] Chr3:183057376 [GRCh38]
Chr3:182775164 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1273G>C (p.Glu425Gln) single nucleotide variant Inborn genetic diseases [RCV004419073] Chr3:183039130 [GRCh38]
Chr3:182756918 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1712A>T (p.Asp571Val) single nucleotide variant Inborn genetic diseases [RCV004419074] Chr3:183025774 [GRCh38]
Chr3:182743562 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1662T>C (p.Thr554=) single nucleotide variant MCCC1-related disorder [RCV003894034] Chr3:183034010 [GRCh38]
Chr3:182751798 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1289A>G (p.Tyr430Cys) single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003989404] Chr3:183039114 [GRCh38]
Chr3:182756902 [GRCh37]
Chr3:3q27.1
likely pathogenic
GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3 copy number gain See cases [RCV004442807] Chr3:179313373..197851444 [GRCh37]
Chr3:3q26.33-29
pathogenic
NM_020166.5(MCCC1):c.986A>G (p.His329Arg) single nucleotide variant Inborn genetic diseases [RCV004419077] Chr3:183045510 [GRCh38]
Chr3:182763298 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.205A>G (p.Lys69Glu) single nucleotide variant not specified [RCV004586312] Chr3:183092477 [GRCh38]
Chr3:182810265 [GRCh37]
Chr3:3q27.1
uncertain significance
GRCh38/hg38 3q27.1-27.2(chr3:183020090-185760128)x1 copy number loss Fetal growth restriction [RCV004574943] Chr3:183020090..185760128 [GRCh38]
Chr3:3q27.1-27.2
pathogenic
NC_000003.11:g.(?_182743523)_(182743612_?)del deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV004582228] Chr3:182743523..182743612 [GRCh37]
Chr3:3q27.1
pathogenic
NC_000003.11:g.(?_182751759)_(182770048_?)del deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV004582229] Chr3:182751759..182770048 [GRCh37]
Chr3:3q27.1
pathogenic
NC_000003.11:g.(?_182763181)_(182810353_?)dup duplication 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV004582230] Chr3:182763181..182810353 [GRCh37]
Chr3:3q27.1
likely pathogenic
NC_000003.11:g.(?_182788836)_(182792878_?)del deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV004582231] Chr3:182788836..182792878 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1898del (p.Val633fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV004574824] Chr3:183020209 [GRCh38]
Chr3:182737997 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1784G>A (p.Cys595Tyr) single nucleotide variant Inborn genetic diseases [RCV004637811] Chr3:183022502 [GRCh38]
Chr3:182740290 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.823_824del (p.Asp275fs) microsatellite 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV004574826] Chr3:183057360..183057361 [GRCh38]
Chr3:182775148..182775149 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.2050-2A>C single nucleotide variant 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV004574827] Chr3:183015568 [GRCh38]
Chr3:182733356 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.300del (p.Ala101fs) deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV004574825] Chr3:183086762 [GRCh38]
Chr3:182804550 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.987T>G (p.His329Gln) single nucleotide variant Inborn genetic diseases [RCV004637809] Chr3:183045509 [GRCh38]
Chr3:182763297 [GRCh37]
Chr3:3q27.1
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3204
Count of miRNA genes:920
Interacting mature miRNAs:1094
Transcripts:ENST00000265594, ENST00000464601, ENST00000466650, ENST00000473955, ENST00000476176, ENST00000486226, ENST00000487634, ENST00000489909, ENST00000490284, ENST00000492597, ENST00000495767, ENST00000497830, ENST00000497959, ENST00000539926
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407146692GWAS795668_HParkinson disease QTL GWAS795668 (human)2e-21Parkinson disease3183044649183044650Human
407126476GWAS775452_HParkinson disease QTL GWAS775452 (human)8e-12Parkinson disease3183103487183103488Human
407220044GWAS869020_Hlymphocyte count QTL GWAS869020 (human)9e-14lymphocyte countblood lymphocyte count (CMO:0000031)3183079521183079522Human
406901706GWAS550682_Hbeta-hydroxyisovalerate measurement QTL GWAS550682 (human)4e-51beta-hydroxyisovalerate measurement3183083204183083205Human
407158920GWAS807896_HParkinson disease QTL GWAS807896 (human)1e-34Parkinson disease3183042285183042286Human
407148105GWAS797081_Hcarnitine measurement QTL GWAS797081 (human)1e-16blood carnitine amount (VT:0003977)3183037421183037422Human
407092812GWAS741788_Hbeta-hydroxyisovalerate measurement QTL GWAS741788 (human)1e-15beta-hydroxyisovalerate measurement3183101261183101262Human
407318664GWAS967640_Hbeta-hydroxyisovalerate measurement QTL GWAS967640 (human)5e-22beta-hydroxyisovalerate measurement3183072854183072855Human
407234775GWAS883751_HParkinson disease QTL GWAS883751 (human)3e-08Parkinson disease3183037421183037422Human
407250068GWAS899044_Hlymphocyte count QTL GWAS899044 (human)5e-11lymphocyte countblood lymphocyte count (CMO:0000031)3183021950183021951Human
407003473GWAS652449_HParkinson disease QTL GWAS652449 (human)6e-50Parkinson disease3183042285183042286Human
407027796GWAS676772_HParkinson disease QTL GWAS676772 (human)4e-17Parkinson disease3183042285183042286Human
407203411GWAS852387_Hvital capacity QTL GWAS852387 (human)0.000006vital capacity3183015467183015468Human
407051803GWAS700779_Hbody mass index QTL GWAS700779 (human)3e-11body mass indexbody mass index (BMI) (CMO:0000105)3183086597183086598Human
406925080GWAS574056_Hbeta-hydroxyisovalerate measurement QTL GWAS574056 (human)5e-24beta-hydroxyisovalerate measurement3183101261183101262Human
407085145GWAS734121_Hbeta-hydroxyisovaleroylcarnitine measurement QTL GWAS734121 (human)4e-57beta-hydroxyisovaleroylcarnitine measurement3183092356183092357Human
407009945GWAS658921_HParkinson disease QTL GWAS658921 (human)2e-11Parkinson disease3183034255183034256Human
407328664GWAS977640_Hbeta-hydroxyisovaleroylcarnitine measurement QTL GWAS977640 (human)2e-19beta-hydroxyisovaleroylcarnitine measurement3183045228183045229Human
407236901GWAS885877_Hamino acid measurement QTL GWAS885877 (human)0.000007amino acid measurement3183108528183108529Human
406925091GWAS574067_Hbeta-hydroxyisovalerate measurement QTL GWAS574067 (human)3e-23beta-hydroxyisovalerate measurement3183086597183086598Human
407139502GWAS788478_Hprostate cancer QTL GWAS788478 (human)0.00001prostate cancer3183037313183037314Human
407098024GWAS747000_Hbeta-hydroxyisovaleroylcarnitine measurement QTL GWAS747000 (human)1e-21beta-hydroxyisovaleroylcarnitine measurement3183092356183092357Human
407256936GWAS905912_Hmetabolite measurement QTL GWAS905912 (human)2e-20metabolite measurement3183049387183049388Human
407061490GWAS710466_Hbeta-hydroxyisovalerate measurement QTL GWAS710466 (human)9e-13beta-hydroxyisovalerate measurement3183086597183086598Human
407370676GWAS1019652_HParkinson disease QTL GWAS1019652 (human)8e-17Parkinson disease3183017423183017424Human
407061494GWAS710470_Hbeta-hydroxyisovaleroylcarnitine measurement QTL GWAS710470 (human)1e-16beta-hydroxyisovaleroylcarnitine measurement3183055337183055338Human
407128498GWAS777474_HParkinson disease QTL GWAS777474 (human)3e-10Parkinson disease3183042285183042286Human
407137202GWAS786178_HParkinson disease QTL GWAS786178 (human)2e-30Parkinson disease3183044649183044650Human
407270320GWAS919296_Hserum metabolite measurement QTL GWAS919296 (human)8e-18serum metabolite measurement3183092356183092357Human
407098750GWAS747726_Hbeta-hydroxyisovalerate measurement QTL GWAS747726 (human)2e-28beta-hydroxyisovalerate measurement3183021950183021951Human
407061501GWAS710477_Hbeta-hydroxyisovaleroylcarnitine measurement QTL GWAS710477 (human)2e-17beta-hydroxyisovaleroylcarnitine measurement3183092356183092357Human

Markers in Region
RH99319  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373182,733,229 - 182,733,349UniSTSGRCh37
Build 363184,215,923 - 184,216,043RGDNCBI36
Celera3181,167,724 - 181,167,844RGD
Cytogenetic Map3q27UniSTS
HuRef3180,137,850 - 180,137,970UniSTS
GeneMap99-GB4 RH Map3682.99UniSTS
RH120070  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373182,811,190 - 182,811,502UniSTSGRCh37
Build 363184,293,884 - 184,294,196RGDNCBI36
Celera3181,245,560 - 181,245,872RGD
Cytogenetic Map3q27UniSTS
HuRef3180,215,968 - 180,216,280UniSTS
TNG Radiation Hybrid Map3101176.0UniSTS
PMC199271P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373182,788,762 - 182,789,277UniSTSGRCh37
Build 363184,271,456 - 184,271,971RGDNCBI36
Celera3181,223,220 - 181,223,735RGD
Cytogenetic Map3q27UniSTS
HuRef3180,193,543 - 180,194,058UniSTS
SHGC-57632  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373182,747,632 - 182,747,721UniSTSGRCh37
Build 363184,230,326 - 184,230,415RGDNCBI36
Celera3181,181,963 - 181,182,052RGD
Cytogenetic Map3q27UniSTS
HuRef3180,152,452 - 180,152,541UniSTS
TNG Radiation Hybrid Map3101122.0UniSTS
RH36308  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373182,746,890 - 182,746,992UniSTSGRCh37
Build 363184,229,584 - 184,229,686RGDNCBI36
Celera3181,181,221 - 181,181,323RGD
Cytogenetic Map3q27UniSTS
HuRef3180,151,710 - 180,151,812UniSTS
GeneMap99-GB4 RH Map3684.81UniSTS
D10S275  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map6q24UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map20pter-q11.23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11p14.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map6q12-q13UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001293273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_120639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_120640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002959553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002959554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007095707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_241502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB029826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC108741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF297332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF310339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF310972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
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Ensembl Acc Id: ENST00000265594   ⟹   ENSP00000265594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3183,015,218 - 183,099,496 (-)Ensembl
Ensembl Acc Id: ENST00000464601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3183,015,289 - 183,022,717 (-)Ensembl
Ensembl Acc Id: ENST00000466650   ⟹   ENSP00000418979
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3183,071,048 - 183,099,530 (-)Ensembl
Ensembl Acc Id: ENST00000473955
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3183,092,373 - 183,094,607 (-)Ensembl
Ensembl Acc Id: ENST00000476176   ⟹   ENSP00000420433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3183,020,170 - 183,099,550 (-)Ensembl
Ensembl Acc Id: ENST00000486226   ⟹   ENSP00000420223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3183,072,427 - 183,099,495 (-)Ensembl
Ensembl Acc Id: ENST00000487634   ⟹   ENSP00000420591
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3183,071,046 - 183,099,518 (-)Ensembl
Ensembl Acc Id: ENST00000489909
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3183,022,469 - 183,037,355 (-)Ensembl
Ensembl Acc Id: ENST00000490284   ⟹   ENSP00000419328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3183,071,006 - 183,099,523 (-)Ensembl
Ensembl Acc Id: ENST00000492597   ⟹   ENSP00000419898
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3183,015,218 - 183,116,075 (-)Ensembl
Ensembl Acc Id: ENST00000495767   ⟹   ENSP00000419658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3183,015,551 - 183,099,518 (-)Ensembl
Ensembl Acc Id: ENST00000497830   ⟹   ENSP00000420088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3183,015,220 - 183,099,530 (-)Ensembl
Ensembl Acc Id: ENST00000497959   ⟹   ENSP00000420648
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3183,015,289 - 183,099,243 (-)Ensembl
Ensembl Acc Id: ENST00000610757   ⟹   ENSP00000480435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3183,015,220 - 183,099,577 (-)Ensembl
Ensembl Acc Id: ENST00000629669   ⟹   ENSP00000486824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3183,015,220 - 183,099,577 (-)Ensembl
RefSeq Acc Id: NM_001293273   ⟹   NP_001280202
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,015,218 - 183,099,496 (-)NCBI
CHM1_13182,695,925 - 182,780,299 (-)NCBI
T2T-CHM13v2.03185,820,313 - 185,905,689 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363880   ⟹   NP_001350809
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,015,218 - 183,099,587 (-)NCBI
T2T-CHM13v2.03185,820,313 - 185,905,780 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020166   ⟹   NP_064551
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,015,218 - 183,099,496 (-)NCBI
GRCh373182,733,006 - 182,817,373 (-)NCBI
Build 363184,215,700 - 184,300,059 (-)NCBI Archive
HuRef3180,137,627 - 180,222,143 (-)ENTREZGENE
CHM1_13182,695,925 - 182,780,299 (-)NCBI
T2T-CHM13v2.03185,820,313 - 185,905,689 (-)NCBI
Sequence:
RefSeq Acc Id: NR_120639
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,015,218 - 183,099,496 (-)NCBI
CHM1_13182,695,925 - 182,780,299 (-)NCBI
T2T-CHM13v2.03185,820,313 - 185,905,689 (-)NCBI
Sequence:
RefSeq Acc Id: NR_120640
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,015,218 - 183,099,243 (-)NCBI
CHM1_13182,695,925 - 182,779,955 (-)NCBI
T2T-CHM13v2.03185,820,313 - 185,905,436 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512992   ⟹   XP_011511294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,015,218 - 183,099,243 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047448586   ⟹   XP_047304542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,015,218 - 183,116,196 (-)NCBI
RefSeq Acc Id: XM_047448587   ⟹   XP_047304543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,022,417 - 183,099,587 (-)NCBI
RefSeq Acc Id: XM_047448588   ⟹   XP_047304544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,015,218 - 183,094,608 (-)NCBI
RefSeq Acc Id: XM_047448589   ⟹   XP_047304545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,015,218 - 183,090,957 (-)NCBI
RefSeq Acc Id: XM_047448590   ⟹   XP_047304546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,033,993 - 183,099,587 (-)NCBI
RefSeq Acc Id: XM_047448591   ⟹   XP_047304547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,033,993 - 183,116,196 (-)NCBI
RefSeq Acc Id: XM_054347268   ⟹   XP_054203243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03185,820,313 - 185,922,411 (-)NCBI
RefSeq Acc Id: XM_054347269   ⟹   XP_054203244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03185,820,313 - 185,905,436 (-)NCBI
RefSeq Acc Id: XM_054347270   ⟹   XP_054203245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03185,828,601 - 185,905,780 (-)NCBI
RefSeq Acc Id: XM_054347271   ⟹   XP_054203246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03185,820,313 - 185,900,801 (-)NCBI
RefSeq Acc Id: XM_054347272   ⟹   XP_054203247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03185,820,313 - 185,897,154 (-)NCBI
RefSeq Acc Id: XM_054347273   ⟹   XP_054203248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03185,840,183 - 185,905,780 (-)NCBI
RefSeq Acc Id: XM_054347274   ⟹   XP_054203249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03185,840,183 - 185,922,291 (-)NCBI
RefSeq Acc Id: XR_007095707
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,025,755 - 183,099,587 (-)NCBI
RefSeq Acc Id: XR_008486750
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03185,831,940 - 185,905,780 (-)NCBI