MCCC1 (methylcrotonyl-CoA carboxylase subunit 1)

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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 leucine catabolic process. Located in 3-methylcrotonyl-CoA carboxylase complex, mitochondrial and mitochondrial matrix. Part of methylcrotonoyl-CoA carboxylase complex. Implicated in 3-Methylcrotonyl-CoA carboxylase 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

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Mccc1 (methylcrotonoyl-Coenzyme A carboxylase 1 (alpha))	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Mccc1 (methylcrotonyl-CoA carboxylase subunit 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Mccc1 (methylcrotonyl-CoA carboxylase subunit 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	MCCC1 (methylcrotonyl-CoA carboxylase subunit 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	MCCC1 (methylcrotonyl-CoA carboxylase subunit 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Mccc1 (methylcrotonyl-CoA carboxylase subunit 1)	NCBI	Ortholog
Sus scrofa (pig):	MCCC1 (methylcrotonyl-CoA carboxylase subunit 1)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	MCCC1 (methylcrotonyl-CoA carboxylase subunit 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Mccc1 (methylcrotonyl-CoA carboxylase subunit 1)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Mccc1 (methylcrotonyl-CoA carboxylase subunit 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Mccc1 (methylcrotonoyl-Coenzyme A carboxylase 1 (alpha))	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	mccc1 (methylcrotonoyl-CoA carboxylase 1 (alpha))	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	DUR1,2	Alliance	DIOPT (OrthoInspector\|PANTHER)
Drosophila melanogaster (fruit fly):	Mccc1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	mccc-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	mccc1	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	mccc1.S	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	3	183,015,218 - 183,116,196 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	3	183,015,218 - 183,116,075 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	3	182,733,006 - 182,817,375 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	184,215,700 - 184,300,059 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	3	184,215,709 - 184,300,062	NCBI
Celera	3	181,167,501 - 181,251,735 (-)	NCBI		Celera
Cytogenetic Map	3	q27.1	NCBI
HuRef	3	180,137,627 - 180,222,143 (-)	NCBI		HuRef
CHM1_1	3	182,695,925 - 182,780,289 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	3	185,820,313 - 185,922,411 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

3-Methylcrotonyl-CoA carboxylase 1 deficiency (EXP,IAGP)

3-methylcrotonyl-CoA carboxylase deficiency (IAGP)

Chemical and Drug Induced Liver Injury (EXP)

congenital disorder of glycosylation Id (IAGP)

Currarino syndrome (IAGP)

genetic disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

(1->4)-beta-D-glucan (ISO)

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP)

2,3,7,8-tetrachlorodibenzodioxine (EXP,ISO)

2,4-dinitrotoluene (ISO)

2,6-dinitrotoluene (ISO)

2-hydroxypropanoic acid (EXP)

3,3',4,4',5-pentachlorobiphenyl (EXP)

4,4'-sulfonyldiphenol (EXP)

4-hydroxyphenyl retinamide (ISO)

acetamide (ISO)

aflatoxin B1 (EXP)

atrazine (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (EXP,ISO)

Bisphenol B (EXP)

bisphenol F (EXP)

cadmium atom (ISO)

caffeine (EXP)

carbon nanotube (ISO)

chlorpyrifos (ISO)

copper atom (ISO)

copper(0) (ISO)

copper(II) sulfate (EXP)

cyclosporin A (EXP)

dibutyl phthalate (ISO)

doxorubicin (EXP)

elemental selenium (EXP)

endosulfan (ISO)

ethanol (ISO)

folic acid (ISO)

glycidyl methacrylate (EXP)

indometacin (ISO)

isotretinoin (EXP)

menadione (EXP)

methapyrilene (ISO)

paracetamol (EXP,ISO)

perfluorooctane-1-sulfonic acid (ISO)

perfluorooctanoic acid (EXP)

phenobarbital (EXP)

PhIP (ISO)

rac-lactic acid (EXP)

resveratrol (EXP,ISO)

selenium atom (EXP)

sodium fluoride (ISO)

sulforaphane (EXP)

tetrachloromethane (ISO)

thioacetamide (ISO)

troglitazone (ISO)

urethane (EXP)

vancomycin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

biotin metabolic process (NAS)

branched-chain amino acid catabolic process (NAS)

leucine catabolic process (IEA,ISS,NAS)

Cellular Component

3-methylcrotonyl-CoA carboxylase complex, mitochondrial (IPI,NAS,TAS)

cytosol (TAS)

methylcrotonoyl-CoA carboxylase complex (IDA)

mitochondrial matrix (IDA,IEA,NAS,TAS)

mitochondrion (IBA,IDA,IEA)

Molecular Function

ATP binding (IEA)

biotin binding (NAS)

biotin carboxylase activity (NAS)

ligase activity (IEA)

metal ion binding (IEA)

methylcrotonoyl-CoA carboxylase activity (IBA,IDA,IEA,NAS)

nucleotide binding (IEA)

protein binding (IPI)

Molecular Pathway Annotations Click to see Annotation Detail View

3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway (EXP)

3-hydroxyisobutyric aciduria pathway (EXP)

3-methylcrotonyl CoA carboxylase 1 deficiency pathway (EXP)

3-methylglutaconic aciduria type 1 pathway (EXP)

3-methylglutaconic aciduria type 3 pathway (EXP)

isobutyryl-CoA dehydrogenase deficiency pathway (EXP)

isovaleric acidemia pathway (EXP)

maple syrup urine disease pathway (EXP)

methylmalonate semialdehyde dehydrogenase deficiency pathway (EXP)

methylmalonic acidemia pathway (EXP)

propionic acidemia pathway (EXP)

valine, leucine and isoleucine degradation pathway (EXP,IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

3-hydroxyisovaleric aciduria (IAGP)

Abnormal cerebral vascular morphology (IAGP)

Abnormal circulating leucine concentration (IAGP)

Abnormality of movement (IAGP)

Acute hepatic steatosis (IAGP)

Acute hyperammonemia (IAGP)

Adult onset (IAGP)

Apnea (IAGP)

Autosomal recessive inheritance (IAGP)

Coma (IAGP)

Elevated urinary 3-methylcrotonylglycine level (IAGP)

Episodic metabolic acidosis (IAGP)

Failure to thrive (IAGP)

Failure to thrive in infancy (IAGP)

Feeding difficulties in infancy (IAGP)

Generalized hypotonia (IAGP)

Global developmental delay (IAGP)

Hyperammonemia (IAGP)

Hyperreflexia (IAGP)

Hypoglycemia (IAGP)

Hypotonia (IAGP)

Infantile onset (IAGP)

Intellectual disability (IAGP)

Juvenile onset (IAGP)

Ketonuria (IAGP)

Lethargy (IAGP)

Opisthotonus (IAGP)

Organic aciduria (IAGP)

Respiratory insufficiency (IAGP)

Seizure (IAGP)

Spasticity (IAGP)

Vomiting (IAGP)

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:31452512	PMID:31536960	PMID:31730530	PMID:31862882	PMID:31901042	PMID:31995728	PMID:32203420	PMID:32529326	PMID:32652860	PMID:32687490	PMID:33111431	PMID:33417871
PMID:33559030	PMID:33729478	PMID:33916271	PMID:33961781	PMID:34011540	PMID:34638806	PMID:34709266	PMID:34795231	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:36398662
PMID:36762613	PMID:36931259

Genomics

Comparative Map Data

MCCC1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	3	183,015,218 - 183,116,196 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	3	183,015,218 - 183,116,075 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	3	182,733,006 - 182,817,375 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	184,215,700 - 184,300,059 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	3	184,215,709 - 184,300,062	NCBI
Celera	3	181,167,501 - 181,251,735 (-)	NCBI		Celera
Cytogenetic Map	3	q27.1	NCBI
HuRef	3	180,137,627 - 180,222,143 (-)	NCBI		HuRef
CHM1_1	3	182,695,925 - 182,780,289 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	3	185,820,313 - 185,922,411 (-)	NCBI		T2T-CHM13v2.0

Mccc1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	3	36,009,584 - 36,054,843 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	3	36,013,461 - 36,054,827 (-)	Ensembl		GRCm39 Ensembl
GRCm38	3	35,956,292 - 36,000,694 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	3	35,959,312 - 36,000,678 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	3	35,858,218 - 35,899,600 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	3	36,151,385 - 36,192,188 (-)	NCBI		MGSCv36	mm8
MGSCv36	3	35,827,354 - 35,868,158 (-)	NCBI		MGSCv36	mm8
Celera	3	35,846,334 - 35,883,101 (-)	NCBI		Celera
Cytogenetic Map	3	B	NCBI
cM Map	3	17.41	NCBI

Mccc1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	2	118,799,147 - 118,851,181 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	2	118,799,150 - 118,851,222 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	2	125,352,210 - 125,404,078 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	2	123,464,896 - 123,516,764 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	2	118,093,657 - 118,145,531 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	2	122,550,777 - 122,690,540 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	2	122,550,775 - 122,690,617 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	2	142,300,575 - 142,317,803 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Rnor_5.0	2	142,186,426 - 142,203,853 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	2	122,416,660 - 122,469,557 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	2	122,361,622 - 122,414,519 (-)	NCBI
Celera	2	113,761,210 - 113,811,967 (-)	NCBI		Celera
Cytogenetic Map	2	q25	NCBI

Mccc1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955420	11,781,104 - 11,820,338 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955420	11,781,662 - 11,828,060 (-)	NCBI	ChiLan1.0	ChiLan1.0

MCCC1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1	3	180,885,910 - 180,970,354 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	3	180,045,592 - 180,129,988 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	3	188,217,186 - 188,300,284 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	3	188,217,186 - 188,300,284 (-)	Ensembl	panpan1.1		panPan2

MCCC1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	34	16,022,493 - 16,084,346 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	34	16,022,499 - 16,084,387 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	34	20,111,194 - 20,173,075 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	34	15,929,888 - 15,991,791 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	34	15,929,684 - 15,991,778 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	34	15,970,787 - 16,032,643 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	34	15,951,431 - 16,016,266 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	34	16,194,344 - 16,256,270 (-)	NCBI		UU_Cfam_GSD_1.0

Mccc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405602	112,751,848 - 112,811,180 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936566	409,462 - 469,225 (+)	Ensembl	SpeTri2.0
SpeTri2.0	NW_004936566	409,558 - 468,898 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MCCC1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	13	120,915,730 - 121,106,395 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	13	120,983,226 - 121,070,695 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	13	130,222,439 - 130,308,733 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

MCCC1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	15	6,318,788 - 6,400,539 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	15	6,318,791 - 6,401,849 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666063	15,121,745 - 15,202,856 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Mccc1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624730	60,749,896 - 60,803,235 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624730	60,749,678 - 60,803,091 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in MCCC1
597 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\|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	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
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]\|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
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]\|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 specified [RCV000126698]	Chr3:183071034 [GRCh38] Chr3:182788822 [GRCh37] Chr3:3q27.1	benign
NM_020166.5(MCCC1):c.-25C>A	single nucleotide variant	3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001145992]\|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 specified [RCV000126700]	Chr3:183015467 [GRCh38] Chr3:182733255 [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 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]\|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]\|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]\|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]	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]\|not provided [RCV000185992]	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]	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 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 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]\|Methylcrotonyl-CoA carboxylase deficiency [RCV001275505]\|not specified [RCV000610205]	Chr3:183037313 [GRCh38] Chr3:182755101 [GRCh37] Chr3:3q27.1	benign\|likely benign\|uncertain significance
NM_020166.5(MCCC1):c.2050-6_2050-5del	microsatellite	Methylcrotonyl-CoA carboxylase deficiency [RCV000301936]	Chr3:183015571..183015572 [GRCh38] Chr3:182733359..182733360 [GRCh37] Chr3:3q27.1	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]	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]	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	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
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]	Chr3:183092514 [GRCh38] Chr3:182810302 [GRCh37] Chr3:3q27.1	pathogenic
Single allele	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]	Chr3:183025785 [GRCh38] Chr3:182743573 [GRCh37] Chr3:3q27.1	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]	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]\|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	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]	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]	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	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]	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]	Chr3:183041571..183041577 [GRCh38] Chr3:182759359..182759365 [GRCh37] Chr3:3q27.1	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]\|Methylcrotonyl-CoA carboxylase deficiency [RCV001272465]	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]	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]\|Methylcrotonyl-CoA carboxylase deficiency [RCV001273452]	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]	Chr3:183092428 [GRCh38] Chr3:182810216 [GRCh37] Chr3:3q27.1	likely benign\|conflicting interpretations of pathogenicity
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]\|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]\|not provided [RCV001575916]	Chr3:183039101 [GRCh38] Chr3:182756889 [GRCh37] Chr3:3q27.1	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] Chr3:182763016 [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	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]	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	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	uncertain significance
NM_020166.5(MCCC1):c.89+1G>C	single nucleotide variant	3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV000804750]	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]\|not provided [RCV002282369]	Chr3:183071314 [GRCh38] Chr3:182789102 [GRCh37] Chr3:3q27.1	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
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] Chr3:182810144 [GRCh37] Chr3:3q27.1	benign
NM_020166.5(MCCC1):c.1768T>C (p.Tyr590His)	single nucleotide variant	3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001247582]\|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	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]	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	Methylcrotonyl-CoA carboxylase deficiency [RCV002470112]	Chr3:183086774 [GRCh38] Chr3:182804562 [GRCh37] Chr3:3q27.1	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
Single allele	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	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]	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	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
NM_020166.5(MCCC1):c.1115A>C (p.Gln372Pro)	single nucleotide variant	3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV001061122]\|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]	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	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]	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	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	Methylcrotonyl-CoA carboxylase deficiency [RCV001280053]	Chr3:183034028 [GRCh38] Chr3:182751816 [GRCh37] Chr3:3q27.1	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]	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]	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]	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
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]	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
Single allele	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]	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]	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
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]	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
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
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
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]	Chr3:183033989 [GRCh38] Chr3:182751777 [GRCh37] Chr3:3q27.1	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
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
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
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
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]	Chr3:183052246 [GRCh38] Chr3:182770034 [GRCh37] Chr3:3q27.1	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	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]\|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	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
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]	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]	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]	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_000003.11:g.182775210del	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

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.

Markers in Region

RH99319

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	182,733,229 - 182,733,349	UniSTS	GRCh37
Build 36	3	184,215,923 - 184,216,043	RGD	NCBI36
Celera	3	181,167,724 - 181,167,844	RGD
Cytogenetic Map	3	q27	UniSTS
HuRef	3	180,137,850 - 180,137,970	UniSTS
GeneMap99-GB4 RH Map	3	682.99	UniSTS

RH120070

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	182,811,190 - 182,811,502	UniSTS	GRCh37
Build 36	3	184,293,884 - 184,294,196	RGD	NCBI36
Celera	3	181,245,560 - 181,245,872	RGD
Cytogenetic Map	3	q27	UniSTS
HuRef	3	180,215,968 - 180,216,280	UniSTS
TNG Radiation Hybrid Map	3	101176.0	UniSTS

PMC199271P1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	182,788,762 - 182,789,277	UniSTS	GRCh37
Build 36	3	184,271,456 - 184,271,971	RGD	NCBI36
Celera	3	181,223,220 - 181,223,735	RGD
Cytogenetic Map	3	q27	UniSTS
HuRef	3	180,193,543 - 180,194,058	UniSTS

SHGC-57632

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	182,747,632 - 182,747,721	UniSTS	GRCh37
Build 36	3	184,230,326 - 184,230,415	RGD	NCBI36
Celera	3	181,181,963 - 181,182,052	RGD
Cytogenetic Map	3	q27	UniSTS
HuRef	3	180,152,452 - 180,152,541	UniSTS
TNG Radiation Hybrid Map	3	101122.0	UniSTS

RH36308

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	182,746,890 - 182,746,992	UniSTS	GRCh37
Build 36	3	184,229,584 - 184,229,686	RGD	NCBI36
Celera	3	181,181,221 - 181,181,323	RGD
Cytogenetic Map	3	q27	UniSTS
HuRef	3	180,151,710 - 180,151,812	UniSTS
GeneMap99-GB4 RH Map	3	684.81	UniSTS

D10S275

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	21	q21.3	UniSTS
Cytogenetic Map	17	q24.2	UniSTS
Cytogenetic Map	1	q32.1	UniSTS
Cytogenetic Map	13	q12.13	UniSTS
Cytogenetic Map	5	q31.2	UniSTS
Cytogenetic Map	10	q11.22	UniSTS
Cytogenetic Map	22	q13.33	UniSTS
Cytogenetic Map	2	p25.1	UniSTS
Cytogenetic Map	4	q12	UniSTS
Cytogenetic Map	19	p13.12	UniSTS
Cytogenetic Map	7	p13	UniSTS
Cytogenetic Map	2	q11.2	UniSTS
Cytogenetic Map	17	q25.1	UniSTS
Cytogenetic Map	8	q24.13	UniSTS
Cytogenetic Map	19	q13.12	UniSTS
Cytogenetic Map	16	q22.2	UniSTS
Cytogenetic Map	16	q11.2	UniSTS
Cytogenetic Map	14	q24.3	UniSTS
Cytogenetic Map	6	q22	UniSTS
Cytogenetic Map	2	q33.1	UniSTS
Cytogenetic Map	20	q11	UniSTS
Cytogene

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO