MCCC2 (methylcrotonyl-CoA carboxylase subunit 2)

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Gene: MCCC2 (methylcrotonyl-CoA carboxylase subunit 2) Homo sapiens

Analyze

Symbol:

MCCC2

Name:

methylcrotonyl-CoA carboxylase subunit 2

RGD ID:

1352586

HGNC Page

HGNC:6937

Description:

Contributes to methylcrotonoyl-CoA carboxylase activity. Predicted to be involved in leucine catabolic process. Located in 3-methylcrotonyl-CoA carboxylase complex, mitochondrial and mitochondrial matrix. Part of methylcrotonoyl-CoA carboxylase complex. Implicated in 3-Methylcrotonyl-CoA carboxylase 2 deficiency and mitochondrial metabolism disease.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

3-methylcrotonyl-CoA carboxylase 2; 3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit; 3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta; biotin carboxylase; MCCase subunit beta; MCCB; MCCCbeta; methylcrotonoyl-CoA carboxylase 2; methylcrotonoyl-CoA carboxylase 2 (beta); methylcrotonoyl-CoA carboxylase beta chain, mitochondrial; methylcrotonoyl-Coenzyme A carboxylase 2 (beta); non-biotin containing subunit of 3-methylcrotonyl-CoA carboxylase; testicular secretory protein Li 29

RGD Orthologs

Alliance Genes

More Info

more info ...

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	5	71,587,340 - 71,658,706 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	71,579,531 - 71,658,706 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	70,883,167 - 70,954,533 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	70,918,910 - 70,988,981 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	70,918,909 - 70,988,981	NCBI
Celera	5	66,778,848 - 66,850,229 (+)	NCBI		Celera
Cytogenetic Map	5	q13.2	NCBI
HuRef	5	66,088,903 - 66,160,527 (+)	NCBI		HuRef
CHM1_1	5	70,315,816 - 70,387,189 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	5	72,068,680 - 72,140,018 (+)	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 2 deficiency (EXP,IAGP)

3-methylcrotonyl-CoA carboxylase deficiency (IAGP)

autism spectrum disorder (IAGP)

genetic disease (IAGP)

mitochondrial metabolism disease (IAGP)

Neurodevelopmental Disorders (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-dexrazoxane (ISO)

(+)-schisandrin B (ISO)

(-)-demecolcine (EXP)

1,1-dichloroethene (ISO)

1,2-dimethylhydrazine (ISO)

1-chloro-2,4-dinitrobenzene (EXP)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP)

17beta-hydroxy-5alpha-androstan-3-one (EXP)

2,3,7,8-tetrabromodibenzodioxine (ISO)

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

2,4-dinitrotoluene (ISO)

2,6-dinitrotoluene (ISO)

4,4'-sulfonyldiphenol (EXP,ISO)

5-fluorouracil (EXP)

acetamide (ISO)

aflatoxin B1 (ISO)

all-trans-retinoic acid (EXP)

benzo[a]pyrene (EXP)

bisphenol A (EXP,ISO)

Bisphenol B (EXP)

bisphenol F (EXP,ISO)

cadmium atom (ISO)

carbon nanotube (ISO)

chlorpyrifos (ISO)

choline (ISO)

chromium(6+) (ISO)

clopidogrel (ISO)

copper atom (EXP)

copper(0) (EXP)

cyclosporin A (EXP,ISO)

dibutyl phthalate (ISO)

dicrotophos (EXP)

diuron (ISO)

doxorubicin (EXP,ISO)

endosulfan (ISO)

enzyme inhibitor (EXP)

folic acid (ISO)

formaldehyde (EXP)

genistein (ISO)

glafenine (ISO)

irinotecan (EXP)

isoprenaline (ISO)

isotretinoin (EXP)

ivermectin (EXP)

L-methionine (ISO)

lead(0) (EXP)

lipopolysaccharide (ISO)

methapyrilene (ISO)

methyl methanesulfonate (EXP)

methylparaben (EXP)

methylseleninic acid (EXP)

N-nitrosomorpholine (ISO)

nimesulide (ISO)

paracetamol (EXP,ISO)

paraquat (ISO)

phlorizin (ISO)

pirinixic acid (EXP,ISO)

propiconazole (ISO)

resveratrol (EXP)

rotenone (ISO)

sodium arsenite (ISO)

sodium dichromate (ISO)

sunitinib (EXP)

testosterone (EXP,ISO)

tetrachloromethane (ISO)

thapsigargin (EXP)

thioacetamide (ISO)

trichloroethene (ISO)

troglitazone (ISO)

tungsten (ISO)

tunicamycin (EXP)

urethane (EXP)

valproic acid (EXP,ISO)

vancomycin (ISO)

vinclozolin (ISO)

vincristine (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

branched-chain amino acid catabolic process (NAS)

coenzyme A metabolic process (IEA,ISO)

leucine catabolic process (IBA,IEA,TAS)

Cellular Component

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

cytosol (TAS)

methylcrotonoyl-CoA carboxylase complex (IBA,IDA)

mitochondrial matrix (IDA,IEA,TAS)

mitochondrion (IBA,IDA,IEA,NAS)

Molecular Function

ATP binding (IEA)

ligase activity (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

Abnormal cerebral vascular morphology (IAGP)

Abnormal circulating leucine concentration (IAGP)

Abnormality of movement (IAGP)

Acute hyperammonemia (IAGP)

Alopecia (IAGP)

Autistic behavior (IAGP)

Autosomal recessive inheritance (IAGP)

Cerebral palsy (IAGP)

Coma (IAGP)

Failure to thrive (IAGP)

Failure to thrive in infancy (IAGP)

Feeding difficulties (IAGP)

Generalized hypotonia (IAGP)

Global developmental delay (IAGP)

Hyperammonemia (IAGP)

Hyperglycinuria (IAGP)

Hyperleucinemia (IAGP)

Hyperreflexia (IAGP)

Hypoglycemia (IAGP)

Hypotonia (IAGP)

Infantile onset (IAGP)

Intellectual disability (IAGP)

Juvenile onset (IAGP)

Ketoacidosis (IAGP)

Ketonuria (IAGP)

Lethargy (IAGP)

Metabolic acidosis (IAGP)

Opisthotonus (IAGP)

Organic aciduria (IAGP)

Propionyl-CoA carboxylase deficiency (IAGP)

Respiratory insufficiency (IAGP)

Seborrheic dermatitis (IAGP)

Seizure (IAGP)

Skeletal muscle atrophy (IAGP)

Spasticity (IAGP)

Vomiting (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.	Gallardo ME, etal., Am J Hum Genet. 2001 Feb;68(2):334-46. Epub 2001 Jan 17.
2.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
3.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
4.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
5.	SMPDB Annotation Import Pipeline	Pipeline to import SMPDB annotations from SMPDB into RGD
6.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
8.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

Additional References at PubMed

PMID:11181649	PMID:11401427	PMID:11406611	PMID:12477932	PMID:14702039	PMID:15146197	PMID:15489334	PMID:16010683	PMID:16023992	PMID:17360195	PMID:17876819	PMID:17968484
PMID:18457437	PMID:19380743	PMID:19759019	PMID:19851296	PMID:20186120	PMID:20198315	PMID:20811636	PMID:20877624	PMID:21071250	PMID:21145461	PMID:21532586	PMID:21642987
PMID:21873635	PMID:22150417	PMID:22264772	PMID:22869039	PMID:22939629	PMID:23752268	PMID:23798571	PMID:24244333	PMID:24344204	PMID:24755837	PMID:24981860	PMID:25071155
PMID:25147182	PMID:25382614	PMID:25921289	PMID:26186194	PMID:26344197	PMID:26465331	PMID:26687479	PMID:26725010	PMID:26752685	PMID:26871637	PMID:26972000	PMID:27025967
PMID:27342126	PMID:27499296	PMID:27601257	PMID:27684187	PMID:28514442	PMID:28515276	PMID:28611215	PMID:28718761	PMID:29117863	PMID:29229926	PMID:29467282	PMID:29509190
PMID:30349055	PMID:30463901	PMID:30575818	PMID:30619736	PMID:30669930	PMID:30804502	PMID:30895811	PMID:30948266	PMID:30997501	PMID:31091453	PMID:31152661	PMID:31452512
PMID:31536960	PMID:31901042	PMID:32205097	PMID:32994395	PMID:33087562	PMID:33417871	PMID:33423264	PMID:33545068	PMID:33567341	PMID:33742100	PMID:33838681	PMID:33863777
PMID:33957083	PMID:33961781	PMID:34011540	PMID:34079125	PMID:34709266	PMID:35122331	PMID:35140242	PMID:35156780	PMID:35241646	PMID:35256949	PMID:35509820	PMID:35563538
PMID:35819319	PMID:35831314	PMID:35844135	PMID:35944360	PMID:36012204	PMID:36095012	PMID:36114006	PMID:36215168	PMID:36225252	PMID:36252997	PMID:36282215	PMID:36398662
PMID:36736316

Genomics

Comparative Map Data

MCCC2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	71,587,340 - 71,658,706 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	71,579,531 - 71,658,706 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	70,883,167 - 70,954,533 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	70,918,910 - 70,988,981 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	70,918,909 - 70,988,981	NCBI
Celera	5	66,778,848 - 66,850,229 (+)	NCBI		Celera
Cytogenetic Map	5	q13.2	NCBI
HuRef	5	66,088,903 - 66,160,527 (+)	NCBI		HuRef
CHM1_1	5	70,315,816 - 70,387,189 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	5	72,068,680 - 72,140,018 (+)	NCBI		T2T-CHM13v2.0

Mccc2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	13	100,085,040 - 100,152,147 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	13	100,085,038 - 100,152,147 (-)	Ensembl		GRCm39 Ensembl
GRCm38	13	99,948,532 - 100,015,639 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	13	99,948,530 - 100,015,639 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	13	100,718,487 - 100,785,594 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	13	101,048,783 - 101,115,886 (-)	NCBI		MGSCv36	mm8
Celera	13	103,601,615 - 103,669,283 (-)	NCBI		Celera
Cytogenetic Map	13	D1	NCBI
cM Map	13	52.9	NCBI

Mccc2
(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	31,304,927 - 31,375,978 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	2	31,304,932 - 31,375,972 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	2	38,383,154 - 38,454,061 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	2	36,477,507 - 36,548,413 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	2	31,270,308 - 31,341,430 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	2	30,175,017 - 30,246,028 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	2	30,175,018 - 30,246,010 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	2	49,333,901 - 49,404,647 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	2	30,961,607 - 31,032,883 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	2	30,881,976 - 30,953,252 (-)	NCBI
Celera	2	27,327,945 - 27,397,754 (-)	NCBI		Celera
Cytogenetic Map	2	q12	NCBI

Mccc2
(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_004955575	445,619 - 505,040 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955575	445,627 - 503,891 (+)	NCBI	ChiLan1.0	ChiLan1.0

MCCC2
(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	5	41,804,951 - 41,880,028 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	5	43,650,993 - 43,724,877 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	5	44,298,650 - 44,369,106 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	5	44,298,650 - 44,369,106 (-)	Ensembl	panpan1.1		panPan2

MCCC2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	2	54,751,703 - 54,825,133 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	2	54,751,698 - 54,823,273 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	2	51,718,218 - 51,791,623 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	2	55,265,241 - 55,340,500 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	2	55,265,213 - 55,340,215 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	2	52,327,887 - 52,401,292 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	2	53,094,755 - 53,168,219 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	2	53,986,123 - 54,059,570 (+)	NCBI		UU_Cfam_GSD_1.0

Mccc2
(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_024407213	186,028,772 - 186,100,599 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936549	4,755,546 - 4,830,242 (-)	Ensembl	SpeTri2.0
SpeTri2.0	NW_004936549	4,760,073 - 4,830,190 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MCCC2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	16	47,917,291 - 47,996,534 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	16	47,917,308 - 47,996,540 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	16	51,863,689 - 51,939,708 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

MCCC2
(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	4	65,944,742 - 66,013,663 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	4	65,944,840 - 66,013,663 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666049	14,689,886 - 14,759,320 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Mccc2
(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_004624905	645,715 - 712,364 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624905	645,782 - 709,611 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in MCCC2
545 total Variants

Clinical Variants

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

miRNA Target Status

Predicted Target Of

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

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

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

Markers in Region

RH93252

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	70,952,697 - 70,952,783	UniSTS	GRCh37
Build 36	5	70,988,453 - 70,988,539	RGD	NCBI36
Celera	5	66,848,395 - 66,848,481	RGD
Cytogenetic Map	5	q12-q13	UniSTS
HuRef	5	66,158,693 - 66,158,779	UniSTS
GeneMap99-GB4 RH Map	5	350.64	UniSTS

SHGC-58479

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	70,938,440 - 70,938,615	UniSTS	GRCh37
Build 36	5	70,974,196 - 70,974,371	RGD	NCBI36
Celera	5	66,834,134 - 66,834,309	RGD
Cytogenetic Map	5	q12-q13	UniSTS
HuRef	5	66,144,286 - 66,144,461	UniSTS

RH119130

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	70,947,975 - 70,948,257	UniSTS	GRCh37
Build 36	5	70,983,731 - 70,984,013	RGD	NCBI36
Celera	5	66,843,674 - 66,843,956	RGD
Cytogenetic Map	5	q12-q13	UniSTS
HuRef	5	66,153,826 - 66,154,108	UniSTS

D5S2198E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	70,912,529 - 70,912,635	UniSTS	GRCh37
Build 36	5	70,948,285 - 70,948,391	RGD	NCBI36
Celera	5	66,808,275 - 66,808,381	RGD
Cytogenetic Map	5	q12-q13	UniSTS
HuRef	5	66,118,402 - 66,118,508	UniSTS

G09869

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	70,925,490 - 70,925,647	UniSTS	GRCh37
Build 36	5	70,961,246 - 70,961,403	RGD	NCBI36
Celera	5	66,821,204 - 66,821,355	RGD
Cytogenetic Map	5	q12-q13	UniSTS
HuRef	5	66,131,331 - 66,131,488	UniSTS

SHGC-34463

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	70,953,094 - 70,953,225	UniSTS	GRCh37
Build 36	5	70,988,850 - 70,988,981	RGD	NCBI36
Celera	5	66,848,792 - 66,848,923	RGD
Cytogenetic Map	5	q12-q13	UniSTS
HuRef	5	66,159,090 - 66,159,221	UniSTS
Stanford-G3 RH Map	5	2534.0	UniSTS
GeneMap99-GB4 RH Map	5	352.98	UniSTS
Whitehead-RH Map	5	249.6	UniSTS
GeneMap99-G3 RH Map	5	2529.0	UniSTS

D11S2921

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	16	q22.1	UniSTS
Cytogenetic Map	1	p36.1	UniSTS
Cytogenetic Map	3	p24.2	UniSTS
Cytogenetic Map	1	q23.3	UniSTS
Cytogenetic Map	9	q34.3	UniSTS
Cytogenetic Map	1	p36.31	UniSTS
Cytogenetic Map	3	p25.3	UniSTS
Cytogenetic Map	11	p15.4	UniSTS
Cytogenetic Map	7	p14.1	UniSTS
Cytogenetic Map	2	q22.3	UniSTS
Cytogenetic Map	9	q22.33	UniSTS
Cytogenetic Map	15	q13.2	UniSTS
Cytogenetic Map	16	q24.3	UniSTS
Cytogenetic Map	5	q31	UniSTS
Cytogenetic Map	19	q13.11	UniSTS
Cytogenetic Map	17	p11.2	UniSTS
Cytogenetic Map	19	q13.3	UniSTS
Cytogenetic Map	22	q13.33	UniSTS
Cytogenetic Map	14	q13.2	UniSTS
Cytogenetic Map	2	p25.1	UniSTS
Cytogenetic Map	10	q24.33	UniSTS
Cytogenetic Map	5	q23.3-q31.1	UniSTS
Cytogenetic Map	8	p21.3	UniSTS
Cytogenetic Map	22	q13.1	UniSTS
Cytogenetic Map	1	p32.3	UniSTS
Cytogenetic Map	17	q11	UniSTS
Cytogenetic Map	1	q24	UniSTS
Cytogenetic Map	11	q14	UniSTS
Cytogenetic Map	17	q25	UniSTS
Cytogenetic Map	X	q13.1	UniSTS
Cytogenetic Map	2	q11.2	UniSTS
Cytogenetic Map	9	p13.3	UniSTS
Cytogenetic Map	19	p13.2	UniSTS
Cytogenetic Map	2	q32.3	UniSTS
Cytogenetic Map	17	q21.31	UniSTS
Cytogenetic Map	19	q13.12	UniSTS
Cytogenetic Map	4	q32.1	UniSTS
Cytogenetic Map	7	q34	UniSTS
Cytogenetic Map	13	q12	UniSTS
Cytogenetic Map	12	p13.31	UniSTS
Cytogenetic Map	3	p21.1	UniSTS
Cytogenetic Map	3	q12.3	UniSTS
Cytogenetic Map	14	q24.3	UniSTS
Cytogenetic Map	6	q22	UniSTS
Cytogenetic Map	22	q13.2	UniSTS
Cytogenetic Map	19	q13.42	UniSTS
Cytogenetic Map	17	q12	UniSTS
Cytogenetic Map	20	q11	UniSTS
Cytogenetic Map	8	q22.1	UniSTS
Cytogenetic Map	5	q23.3	UniSTS
Cytogenetic Map	20	q11.22	UniSTS
Cytogenetic Map	1	p36.11	UniSTS
Cytogenetic Map	19	q13.43	UniSTS
Cytogenetic Map	17	q21	UniSTS
Cytogenetic Map	11	q25	UniSTS
Cytogenetic Map	3	p21.3	UniSTS
Cytogenetic Map	1	q32.3	UniSTS
Cytogenetic Map	2	q37.3	UniSTS
Cytogenetic Map	12	q21.33	UniSTS
Cytogenetic Map	7	p22.3	UniSTS
Cytogenetic Map	4	p16.3	UniSTS
Cytogenetic Map	17	p13.3	UniSTS
Cytogenetic Map	1	p35.1	UniSTS
Cytogenetic Map	X	p11.4-p11.3	UniSTS
Cytogenetic Map	17	q11.2	UniSTS
Cytogenetic Map	1	p36.33	UniSTS
Cytogenetic Map	19	p13.3	UniSTS
Cytogenetic Map	1	q24.1	UniSTS
Cytogenetic Map	14	q11.2	UniSTS
Cytogenetic Map	16	p11.2	UniSTS
Cytogenetic Map	11	q24.2	UniSTS
Cytogenetic Map	10	p15.1	UniSTS
Cytogenetic Map	18	p11.31	UniSTS
Cytogenetic Map	12	p13.32	UniSTS
Cytogenetic Map	19	p13.11	UniSTS
Cytogenetic Map	11	q13.5	UniSTS
Cytogenetic Map	1	p22	UniSTS
Cytogenetic Map	2	q14	UniSTS
Cytogenetic Map	16	q24	UniSTS
Cytogenetic Map	16	p13.3	UniSTS
Cytogenetic Map	7	p22	UniSTS
Cytogenetic Map	14	q32.33	UniSTS
Cytogenetic Map	8	p11.21	UniSTS
Cytogenetic Map	8	q24.11	UniSTS
Cytogenetic Map	4	q12	UniSTS
Cytogenetic Map	9	q22.31	UniSTS
Cytogenetic Map	17	p13.2	UniSTS
Cytogenetic Map	11	p15.5	UniSTS
Cytogenetic Map	2	p11.2	UniSTS
Cytogenetic Map	7	q11.23	UniSTS
Cytogenetic Map	5	q31.1	UniSTS
Cytogenetic Map	2	q33-q34	UniSTS
Cytogenetic Map	17	q22.2	UniSTS
Cytogenetic Map	8	q24.13	UniSTS
Cytogenetic Map	22	q11.2	UniSTS
Cytogenetic Map	6	p22.1	UniSTS
Cytogenetic Map	Y	p11.2	UniSTS
Cytogenetic Map	19	q13.2	UniSTS
Cytogenetic Map	18	p11.21	UniSTS
Cytogenetic Map	10	q22	UniSTS
Cytogenetic Map	5	q35.3	UniSTS
Cytogenetic Map	10	q23.1	UniSTS
Cytogenetic Map	2	q37	UniSTS
Cytogenetic Map	18	pter-p11.3	UniSTS
Cytogenetic Map	8	q22.3	UniSTS
Cytogenetic Map	6	p21.33	UniSTS
Cytogenetic Map	7	q22.1	UniSTS
Cytogenetic Map	2	q21.3	UniSTS
Cytogenetic Map	2	q21.1	UniSTS
Cytogenetic Map	8	p21.2	UniSTS
Cytogenetic Map	X	q22.1	UniSTS
Cytogenetic Map	10	q22.2	UniSTS
Cytogenetic Map	1	p34.2	UniSTS
Cytogenetic Map	19	q13.41	UniSTS
Cytogenetic Map	14	q32.12	UniSTS
Cytogenetic Map	3	q21.3	UniSTS
Cytogenetic Map	4	q34.1	UniSTS
Cytogenetic Map	10	p13	UniSTS
Cytogenetic Map	17	q25.3	UniSTS
Cytogenetic Map	3	q13.31	UniSTS
Cytogenetic Map	7	q21.12	UniSTS
Cytogenetic Map	15	q22.2	UniSTS
Cytogenetic Map	8	p23.1	UniSTS
Cytogenetic Map	5	q32	UniSTS
Cytogenetic Map	20	q13.12	UniSTS
Cytogenetic Map	12	q23.2	UniSTS
Cytogenetic Map	6	p22	UniSTS
Cytogenetic Map	11	q12.3	UniSTS
Cytogenetic Map	11	p13	UniSTS
Cytogenetic Map	1	q21.3	UniSTS
Cytogenetic Map	16	p13.13	UniSTS
Cytogenetic Map	1	p34	UniSTS
Cytogenetic Map	1	p36.21	UniSTS
Cytogenetic Map	12	q13	UniSTS
Cytogenetic Map	19	q13.31	UniSTS
Cytogenetic Map	19	q13.4	UniSTS
Cytogenetic Map	4	p14	UniSTS
Cytogenetic Map	1	q44	UniSTS
Cytogenetic Map	19	p13.1-p12	UniSTS
Cytogenetic Map	7	q22	UniSTS
Cytogenetic Map	8	q24	UniSTS
Cytogenetic Map	18	p11.31-p11.21	UniSTS
Cytogenetic Map	21	q22.3	UniSTS
Cytogenetic Map	7	p21.2	UniSTS
Cytogenetic Map	12	q23-q24.1	UniSTS
Cytogenetic Map	15	q15.1	UniSTS
Cytogenetic Map	10	q11.23	UniSTS
Cytogenetic Map	5	q14.1	UniSTS
Cytogenetic Map	5	p15.33	UniSTS
Cytogenetic Map	1	q21	UniSTS
Cytogenetic Map	22	q11.21	UniSTS
Cytogenetic Map	8	q24.3	UniSTS
Cytogenetic Map	1	q42.1	UniSTS
Cytogenetic Map	12	p13	UniSTS
Cytogenetic Map	15	q21	UniSTS
Cytogenetic Map	6	p21.3	UniSTS
Cytogenetic Map	8	p11.22	UniSTS
Cytogenetic Map	2	q12.3	UniSTS
Cytogenetic Map	19	q13.3-q13.4	UniSTS
Cytogenetic Map	15	q11.2	UniSTS
Cytogenetic Map	5	q35	UniSTS
Cytogenetic Map	8	p23-p22	UniSTS
Cytogenetic Map	12	p11	UniSTS
Cytogenetic Map	17	q21-q22	UniSTS
Cytogenetic Map	12	q13.12	UniSTS
Cytogenetic Map	2	q36.1	UniSTS
Cytogenetic Map	11	p13-p12	UniSTS
Cytogenetic Map	X	p22.33	UniSTS
Cytogenetic Map	Y	p11.3	UniSTS
Cytogenetic Map	2	q12.1	UniSTS
Cytogenetic Map	3	p21.31	UniSTS
Cytogenetic Map	3	q26.32	UniSTS
Cytogenetic Map	7	q11.21	UniSTS
Cytogenetic Map	10	q11.22	UniSTS
Cytogenetic Map	17	p12	UniSTS
Cytogenetic Map	3	p25.1	UniSTS
Cytogenetic Map	14	q32	UniSTS
Cytogenetic Map	5	q12-q13	UniSTS
Cytogenetic Map	6	p23	UniSTS
Cytogenetic Map	20	p12.3-p11.21	UniSTS
Cytogenetic Map	17	q11.2-q12	UniSTS
Cytogenetic Map	11	q23.3	UniSTS
Cytogenetic Map	12	q13.3	UniSTS
Cytogenetic Map	10	q23-q24	UniSTS
Cytogenetic Map	14	q21.3	UniSTS
Cytogenetic Map	11	q13	UniSTS
Cytogenetic Map	12	q13-q14	UniSTS
Cytogenetic Map	6	q14.1	UniSTS
Cytogenetic Map	3	q26.33	UniSTS
Cytogenetic Map	X	p22.2	UniSTS
Cytogenetic Map	1	p31	UniSTS
Cytogenetic Map	15	q15-q21.1	UniSTS
Cytogenetic Map	9	q32	UniSTS
Cytogenetic Map	17	p13	UniSTS
Cytogenetic Map	7	q21-q22	UniSTS
Cytogenetic Map	16	q24.1	UniSTS
Cytogenetic Map	2	q33.3	UniSTS
Cytogenetic Map	11	q22.1	UniSTS
Cytogenetic Map	1	p13.3	UniSTS
Cytogenetic Map	20	p13	UniSTS
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	7	q36.3	UniSTS
Cytogenetic Map	5	q12.3	UniSTS
Cytogenetic Map	2	q33.2	UniSTS
Cytogenetic Map	12	q22	UniSTS
Cytogenetic Map	21	p11.1	UniSTS
Cytogenetic Map	14	q23.2	UniSTS
Cytogenetic Map	6	p22.3-p22.1	UniSTS
Cytogenetic Map	7	p11.2	UniSTS
Cytogenetic Map	6	q15	UniSTS
Cytogenetic Map	X	q25-q26.3	UniSTS
Cytogenetic Map	10	q22.3	UniSTS
Cytogenetic Map	12	q24.31-q24.32	UniSTS
Cytogenetic Map	16	p12.3	UniSTS
Cytogenetic Map	9	q33.2	UniSTS
Cytogenetic Map	15	q23	UniSTS
Cytogenetic Map	12	p12.2-p11.2	UniSTS
Cytogenetic Map	2	q14.3	UniSTS
Cytogenetic Map	X	p11	UniSTS
Cytogenetic Map	19	q13	UniSTS
Cytogenetic Map	17	q22	UniSTS
Cytogenetic Map	3	q21	UniSTS
Cytogenetic Map	20	q13.2	UniSTS
Cytogenetic Map	10	q26	UniSTS
Cytogenetic Map	6	q22.31	UniSTS
Cytogenetic Map	3	q27.1	UniSTS
Cytogenetic Map	7	p13	UniSTS
Cytogenetic Map	22	q13	UniSTS
Cytogenetic Map	11	q13.1	UniSTS
Cytogenetic Map	18	p11.32	UniSTS
Cytogenetic Map	12	q15	UniSTS
Cytogenetic Map	X	q22.3	UniSTS
Cytogenetic Map	2	p25.3	UniSTS
Cytogenetic Map	16	q21	UniSTS
Cytogenetic Map	11	q23.1	UniSTS
Cytogenetic Map	3	q13.13	UniSTS
Cytogenetic Map	12	q24.31	UniSTS
Cytogenetic Map	3	q27.3	UniSTS
Cytogenetic Map	4	p13	UniSTS
Cytogenetic Map	16	p12.1	UniSTS
Cytogenetic Map	14	q32.11	UniSTS
Cytogenetic Map	7	p14.3	UniSTS
Cytogenetic Map	16	q12.1	UniSTS
Cytogenetic Map	15	q25.2	UniSTS
Cytogenetic Map	9	q21.13	UniSTS
Cytogenetic Map	2	p23.3	UniSTS
Cytogenetic Map	3	q29	UniSTS
Cytogenetic Map	15	q22.31	UniSTS
Cytogenetic Map	16	q22.2	UniSTS
Cytogenetic Map	19	p13.12	UniSTS
Cytogenetic Map	20	q13.1	UniSTS
Cytogenetic Map	3	p14.3	UniSTS
Cytogenetic Map	10	q23.33	UniSTS
Cytogenetic Map	12	p12	UniSTS
Cytogenetic Map	9	p24.1-p23	UniSTS
Cytogenetic Map	15	q22	UniSTS
Cytogenetic Map	6	p25	UniSTS
Cytogenetic Map	X	q12-q13	UniSTS
Cytogenetic Map	2	p16.1	UniSTS
Cytogenetic Map	14	q23	UniSTS
Cytogenetic Map	2	q31.1	UniSTS
Cytogenetic Map	17	q23.3	UniSTS
Cytogenetic Map	1	q42.1-q43	UniSTS
Cytogenetic Map	7	q31.1-q31.3	UniSTS
Cytogenetic Map	20	q11.21	UniSTS
Cytogenetic Map	20	q12-q13.12	UniSTS
Cytogenetic Map	1	q24-q25.3	UniSTS
Cytogenetic Map	20	p12.1	UniSTS
Cytogenetic Map	14	q32.31	UniSTS
Cytogenetic Map	1	p13.2	UniSTS
Cytogenetic Map	2	p13.3	UniSTS
Cytogenetic Map	6	q25.1-q26	UniSTS
Cytogenetic Map	12	q13.11-q14.3	UniSTS
Cytogenetic Map	7	p11	UniSTS
Cytogenetic Map	12	p11.22	UniSTS
Cytogenetic Map	17	q23.1	UniSTS
Cytogenetic Map	1	p36.13	UniSTS
Cytogenetic Map	9	q34.11	UniSTS
Cytogenetic Map	2	p15	UniSTS
Cytogenetic Map	9	p11	UniSTS
Cytogenetic Map	6	p24.3	UniSTS
Cytogenetic Map	9	p24.1	UniSTS
Cytogenetic Map	12	p13.2	UniSTS
Cytogenetic Map	6	p22.2	UniSTS
Cytogenetic Map	12	q24.2-q24.31	UniSTS
Cytogenetic Map	22	q12.2	UniSTS
Cytogenetic Map	11	p11.11	UniSTS
Cytogenetic Map	11	q22-q23	UniSTS
Cytogenetic Map	11	q14.1	UniSTS
Cytogenetic Map	1	q32.1	UniSTS
Cytogenetic Map	15	q22-q23	UniSTS
Cytogenetic Map	9	p21	UniSTS
Cytogenetic Map	15	q13.1	UniSTS
Cytogenetic Map	15	q22-qter	UniSTS
Cytogenetic Map	10	q25	UniSTS
Cytogenetic Map	6	p22.3	UniSTS
Cytogenetic Map	6	p25.2	UniSTS
Cytogenetic Map	5	p15.1	UniSTS
Cytogenetic Map	2	p21	UniSTS
Cytogenetic Map	22	q13.31	UniSTS
Cytogenetic Map	21	q22.2	UniSTS
Cytogenetic Map	19	q13.33	UniSTS
Cytogenetic Map	14	q24.1	UniSTS
Cytogenetic Map	13	q34	UniSTS
Cytogenetic Map	18	q11.2	UniSTS
Cytogenetic Map	6	q25.1	UniSTS
Cytogenetic Map	20	q11.23	UniSTS
Cytogenetic Map	1	q21.1	UniSTS
Cytogenetic Map	17	q24.3	UniSTS
Cytogenetic Map	16	q11.2	UniSTS
Cytogenetic Map	16	p12.2	UniSTS
Cytogenetic Map	11	q24	UniSTS
Cytogenetic Map	2	q23.3	UniSTS
Cytogenetic Map	1	p31.1	UniSTS
Cytogenetic Map	18	q23	UniSTS
Cytogenetic Map	11	q13.4	UniSTS
Cytogenetic Map	7	p21.1	UniSTS
Cytogenetic Map	2	q37.1	UniSTS
Cytogenetic Map	8	p11.2	UniSTS
Cytogenetic Map	9	q33.3	UniSTS
Cytogenetic Map	4	q22.1	UniSTS
Cytogenetic Map	2	q21.2	UniSTS
Cytogenetic Map	15	q13.3	UniSTS
Cytogenetic Map	7	p15.3	UniSTS
Cytogenetic Map	3	p22.2	UniSTS
Cytogenetic Map	11	q13.2	UniSTS
Cytogenetic Map	19	p13.2-cen	UniSTS
Cytogenetic Map	19	p13.3-p13.2	UniSTS
Cytogenetic Map	13	q32.3	UniSTS
Cytogenetic Map	9	q33	UniSTS
Cytogenetic Map	1	p36-p35	UniSTS
Cytogenetic Map	19	q13.1	UniSTS
Cytogenetic Map	X	q25	UniSTS
Cytogenetic Map	12	q23	UniSTS
Cytogenetic Map	21	q22.13	UniSTS
Cytogenetic Map	2	q24.2	UniSTS
Cytogenetic Map	7	q31.1-q31.2	UniSTS
Cytogenetic Map	22	q11.23	UniSTS
Cytogenetic Map	X	q24	UniSTS
Cytogenetic Map	4	q25-q27	UniSTS
Cytogenetic Map	3	q25.33	UniSTS
Cytogenetic Map	X	q26.2	UniSTS
Cytogenetic Map	8	q13.2	UniSTS
Cytogenetic Map	8	q13.1	UniSTS
Cytogenetic Map	8	q22.2	UniSTS
Cytogenetic Map	6	q21	UniSTS
Cytogenetic Map	5	q23.1	UniSTS
Cytogenetic Map	4	q13.3	UniSTS
Cytogenetic Map	3	p26.1	UniSTS
Cytogenetic Map	1	q21.2	UniSTS
Cytogenetic Map	17	p13.1	UniSTS
Cytogenetic Map	3	p22-p21.3	UniSTS
Cytogenetic Map	12	q	UniSTS
Cytogenetic Map	X	q21.3	UniSTS
Cytogenetic Map	12	q12	UniSTS
Cytogenetic Map	20	p11	UniSTS
Cytogenetic Map	6	p12.3	UniSTS
Cytogenetic Map	5	p13.1-p12	UniSTS
Cytogenetic Map	1	p36.22	UniSTS
Cytogenetic Map	9	q34	UniSTS
Cytogenetic Map	7	q21.13	UniSTS
Cytogenetic Map	20	q13.33	UniSTS
Cytogenetic Map	3	p21.1-p14.3	UniSTS
Cytogenetic Map	2	q33.1	UniSTS
Cytogenetic Map	7	q36.1	UniSTS
Cytogenetic Map	10	q24.31	UniSTS
Cytogenetic Map	2	p25.1-p24.1	UniSTS
Cytogenetic Map	3	q23	UniSTS
Cytogenetic Map	13	q12.11	UniSTS
Cytogenetic Map	12	q14.3	UniSTS
Cytogenetic Map	13	q14.13	UniSTS
Cytogenetic Map	11	p15	UniSTS
Cytogenetic Map	6	q14.3-q16.1	UniSTS
Cytogenetic Map	16	p13.2	UniSTS
Cytogenetic Map	16	q22.3	UniSTS
Cytogenetic Map	1	p32-p31	UniSTS
Cytogenetic Map	12	q13.13	UniSTS
Cytogenetic Map	8	p11	UniSTS
Cytogenetic Map	6	q25	UniSTS
Cytogenetic Map	8	p11.23	UniSTS
Cytogenetic Map	9	p24.3	UniSTS
Cytogenetic Map	7	q35	UniSTS
Cytogenetic Map	11	q22.3	UniSTS
Cytogenetic Map	16	p12	UniSTS
Cytogenetic Map	6	q14.3	UniSTS
Cytogenetic Map	7	q36	UniSTS
Cytogenetic Map	1	q22	UniSTS
Cytogenetic Map	10	p15.3	UniSTS
Cytogenetic Map	8	p12	UniSTS
Cytogenetic Map	13	q12.2	UniSTS
Cytogenetic Map	7	p22.1	UniSTS
Cytogenetic Map	6	p21.2	UniSTS
Cytogenetic Map	18	q21.1	UniSTS
Cytogenetic Map	10	p11.21	UniSTS
Cytogenetic Map	10	p14	UniSTS
Cytogenetic Map	3	p26	UniSTS
Cytogenetic Map	9	q22.3	UniSTS
Cytogenetic Map	17	q21.1-q21.3	UniSTS
Cytogenetic Map	6	q11.1	UniSTS
Cytogenetic Map	5	q13.2	UniSTS
Cytogenetic Map	3	q21.1	UniSTS
Cytogenetic Map	1	q32	UniSTS
Cytogenetic Map	22	q13.1-q13.2	UniSTS
Cytogenetic Map	19	p12	UniSTS
Cytogenetic Map	9	q32-q33.3	UniSTS
Cytogenetic Map	8	q21.2	UniSTS
Cytogenetic Map	18	q12.1	UniSTS
Cytogenetic Map	12	p13.2-p12.3	UniSTS
Cytogenetic Map	1	p36.3-p36.2	UniSTS
Cytogenetic Map	5	q11.2	UniSTS
Cytogenetic Map	1	q25.2	UniSTS
Cytogenetic Map	3	q13.2	UniSTS
Cytogenetic Map	8	p22	UniSTS
Cytogenetic Map	1	q25.1	UniSTS
Cytogenetic Map	18	q21.32	UniSTS
Cytogenetic Map	17	q21.2	UniSTS
Cytogenetic Map	15	q26.2	UniSTS
Cytogenetic Map	14	q22.1	UniSTS
Cytogenetic Map	5	p15.2	UniSTS
Cytogenetic Map	12	q23.1	UniSTS
Cytogenetic Map	10	q24.2	UniSTS
Cytogenetic Map	15	q15.3	UniSTS
Cytogenetic Map	1	p22.2	UniSTS
Cytogenetic Map	7	q32	UniSTS
Cytogenetic Map	5	p13	UniSTS
Cytogenetic Map	16	q23.2	UniSTS
Cytogenetic Map	10	q24-q25	UniSTS
Cytogenetic Map	7	p11.1	UniSTS
Cytogenetic Map	14	q11.2-q21	UniSTS
Cytogenetic Map	14	q12	UniSTS
Cytogenetic Map	12	q24.13	UniSTS
Cytogenetic Map	10	q21-q22	UniSTS
Cytogenetic Map	4	q22	UniSTS
Cytogenetic Map	9	q22.2	UniSTS
Cytogenetic Map	10	q23.31	UniSTS
Cytogenetic Map	2	p13.1	UniSTS
Cytogenetic Map	2	p24.1	UniSTS
Cytogenetic Map	19	p13	UniSTS
Cytogenetic Map	7	p13-p11.1	UniSTS
Cytogenetic Map	7	q21.1-q22	UniSTS
Cytogenetic Map	1	p36.3	UniSTS
Cytogenetic Map	15	q26.1	UniSTS
Cytogenetic Map	2	q32.1	UniSTS
Cytogenetic Map	5	p14.3	UniSTS
Cytogenetic Map	X	p22.13	UniSTS
Cytogenetic Map	13	q14.2	UniSTS
Cytogenetic Map	15	q	UniSTS
Cytogenetic Map	7	q	UniSTS
Cytogenetic Map	17	q25.1	UniSTS
Cytogenetic Map	10	q23	UniSTS
Cytogenetic Map	5	p12	UniSTS
Cytogenetic Map	11	p11.2	UniSTS
Cytogenetic Map	10	q11.21	UniSTS
Cytogenetic Map	20	q13.13	UniSTS
Cytogenetic Map	13	q22.1	UniSTS
Cytogenetic Map	15	q21.2	UniSTS
Cytogenetic Map	X	q28	UniSTS
Cytogenetic Map	9	p13.1	UniSTS
Cytogenetic Map	9	q34.13	UniSTS

MCCC2

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	70,930,827 - 70,931,042	UniSTS	GRCh37
Celera	5	66,826,522 - 66,826,737	UniSTS
HuRef	5	66,136,674 - 66,136,889	UniSTS

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

2166

1925

1705

620

1172

462

4198

1859

2336

404

1376

1528

172

1155

2637

Low

273

1051

764

159

338

1398

151

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


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

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

Imported Human Phenotype Annotations - ClinVar

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