Advanced Search (OLGA)

Gene: SLC25A12 (solute carrier family 25 member 12) Homo sapiens

Analyze

Symbol:

SLC25A12

Name:

solute carrier family 25 member 12

RGD ID:

1313056

HGNC Page

HGNC:10982

Description:

Enables amino acid:monoatomic cation antiporter activity; calcium ion binding activity; and identical protein binding activity. Involved in dicarboxylic acid transport; malate-aspartate shuttle; and response to calcium ion. Located in mitochondrial inner membrane. Implicated in Asperger syndrome; autistic disorder; and developmental and epileptic encephalopathy 39. Biomarker of autism spectrum disorder.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

AGC1; araceli hiperlarga; ARALAR; aspartate/glutamate carrier 1; calcium binding mitochondrial carrier superfamily member Aralar1; calcium-binding mitochondrial carrier protein Aralar1; DEE39; EIEE39; electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial; mitochondrial aspartate glutamate carrier 1; solute carrier family 25 (aspartate/glutamate carrier), member 12; solute carrier family 25 (mitochondrial carrier, Aralar), member 12

RGD Orthologs

Alliance Orthologs

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	2	171,783,405 - 171,894,244 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	171,783,405 - 171,999,859 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	172,639,915 - 172,750,754 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	172,349,126 - 172,458,979 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	2	172,466,387 - 172,576,240	NCBI
Celera	2	166,256,502 - 166,367,904 (-)	NCBI		Celera
Cytogenetic Map	2	q31.1	NCBI
HuRef	2	164,525,268 - 164,635,693 (-)	NCBI		HuRef
CHM1_1	2	172,646,763 - 172,757,956 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	2	172,260,855 - 172,372,092 (-)	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

Asperger syndrome (IAGP)

autism spectrum disorder (IAGP,IEP)

autistic disorder (EXP,IAGP)

developmental and epileptic encephalopathy 1 (IAGP)

developmental and epileptic encephalopathy 39 (EXP,IAGP,ISS)

fetal alcohol spectrum disorder (ISO)

genetic disease (IAGP)

rheumatoid arthritis (EXP)

split hand-foot malformation 5 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

(-)-epigallocatechin 3-gallate (EXP)

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

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (ISO)

2,2',4,4'-Tetrabromodiphenyl ether (ISO)

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

4,4'-sulfonyldiphenol (ISO)

4-hydroxyphenyl retinamide (ISO)

acrylamide (ISO)

aldehydo-D-glucose (ISO)

aristolochic acid A (EXP)

atrazine (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[a]pyrene diol epoxide I (EXP)

benzo[e]pyrene (EXP)

bis(2-ethylhexyl) phthalate (EXP,ISO)

bisphenol A (EXP,ISO)

bisphenol AF (EXP)

Brodifacoum (ISO)

carbamazepine (EXP)

carbon nanotube (ISO)

cisplatin (EXP)

cobalt dichloride (EXP)

copper(II) sulfate (EXP)

cyclosporin A (EXP,ISO)

D-glucose (ISO)

Dibutyl phosphate (EXP)

dicrotophos (EXP)

dorsomorphin (EXP)

doxorubicin (EXP)

elemental selenium (EXP)

endosulfan (ISO)

entinostat (EXP)

epoxiconazole (ISO)

ethanol (ISO)

folic acid (ISO)

gentamycin (ISO)

glucose (ISO)

hypochlorous acid (ISO)

inulin (ISO)

ivermectin (EXP)

lamivudine (ISO)

methapyrilene (EXP)

monosodium L-glutamate (ISO)

obeticholic acid (EXP)

okadaic acid (EXP)

panobinostat (EXP)

paracetamol (EXP,ISO)

perfluorooctane-1-sulfonic acid (ISO)

phenylmercury acetate (EXP)

pirinixic acid (EXP)

piroxicam (EXP)

poly(I:C) (ISO)

potassium chromate (EXP)

quercetin (EXP)

SB 431542 (EXP)

selenium atom (EXP)

sodium arsenite (EXP,ISO)

temozolomide (EXP)

tetrachloromethane (ISO)

thioacetamide (ISO)

thiram (EXP)

titanium dioxide (ISO)

trichostatin A (EXP)

triclosan (EXP)

triphenyl phosphate (EXP)

triptonide (ISO)

urethane (EXP)

valdecoxib (ISO)

valproic acid (EXP,ISO)

vitamin E (EXP)

vorinostat (EXP)

zidovudine (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

aspartate transmembrane transport (IBA,IDA)

glutamate biosynthetic process (ISO)

L-aspartate transmembrane transport (IEA)

L-glutamate transmembrane transport (IBA,IDA)

malate-aspartate shuttle (IBA,IDA,IEA,IGI,ISO)

mitochondrial calcium ion transmembrane transport (IEA)

negative regulation of glucose catabolic process to lactate via pyruvate (ISO)

neutral amino acid transport (IEA)

organic anion transport (IEA)

positive regulation of ATP biosynthetic process (ISO)

positive regulation of glucose metabolic process (ISO)

positive regulation of myelination (ISO)

proton transmembrane transport (IEA)

response to calcium ion (IDA)

transmembrane transport (IEA)

Cellular Component

membrane (IEA,NAS)

mitochondrial inner membrane (IDA,IEA,TAS)

mitochondrion (HDA,HTP,IDA,IEA)

Molecular Function

3-sulfino-L-alanine: proton, glutamate antiporter activity (IDA)

acidic amino acid transmembrane transporter activity (IEA)

antiporter activity (IEA)

aspartate:glutamate, proton antiporter activity (IDA,IEA)

calcium ion binding (IDA,IEA)

identical protein binding (IDA)

L-aspartate transmembrane transporter activity (IBA)

L-glutamate transmembrane transporter activity (IBA)

metal ion binding (IEA)

organic anion transmembrane transporter activity (IEA)

protein binding (IPI)

Molecular Pathway Annotations Click to see Annotation Detail View

argininosuccinic aciduria pathway (EXP)

carbamoyl phosphate synthetase I deficiency pathway (EXP)

citrullinemia pathway (EXP)

hyperargininemia pathway (EXP)

nicotinamide adenine dinucleotide metabolic pathway (EXP,TAS)

ornithine carbamoyltransferase deficiency pathway (EXP)

urea cycle pathway (EXP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Absent speech (IAGP)

Apnea (IAGP)

Autistic behavior (IAGP)

Autosomal recessive inheritance (IAGP)

Axial hypotonia (IAGP)

Cerebral hypomyelination (IAGP)

Chronic otitis media (IAGP)

Congenital onset (IAGP)

Darwin tubercle of helix (IAGP)

Delayed ability to roll over (IAGP)

Delayed ability to walk (IAGP)

Drooling (IAGP)

Epileptic encephalopathy (IAGP)

Febrile seizure (within the age range of 3 months to 6 years) (IAGP)

Febrile status epilepticus (IAGP)

Flat occiput (IAGP)

Frontal hirsutism (IAGP)

Generalized hirsutism (IAGP)

Generalized hyperreflexia (IAGP)

Generalized-onset seizure (IAGP)

Global developmental delay (IAGP)

High, narrow palate (IAGP)

Hypertelorism (IAGP)

Hypotonia (IAGP)

Increased circulating lactate concentration (IAGP)

Increased variability in muscle fiber diameter (IAGP)

Infantile onset (IAGP)

Jejunal atresia (IAGP)

Myoclonus (IAGP)

Narrow palate (IAGP)

Oval face (IAGP)

Persistent head lag (IAGP)

Polyhydramnios (IAGP)

Poor head control (IAGP)

Primary microcephaly (IAGP)

Reduced brain N-acetyl aspartate level by MRS (IAGP)

Reduced eye contact (IAGP)

Right ventricular hypertrophy (IAGP)

Secondary microcephaly (IAGP)

Seizure (IAGP)

Severe muscular hypotonia (IAGP)

Single transverse palmar crease (IAGP)

Spasticity (IAGP)

Status epilepticus (IAGP)

Tapered finger (IAGP)

Tonic seizure (IAGP)

Type 1 muscle fiber predominance (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: no association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene.	Correia C, etal., J Autism Dev Disord. 2006 Nov;36(8):1137-40. doi: 10.1007/s10803-006-0138-6.
2.	Single nucleotide polymorphism rs6716901 in SLC25A12 gene is associated with Asperger syndrome.	Durdiaková J, etal., Mol Autism. 2014 Mar 31;5(1):25. doi: 10.1186/2040-2392-5-25.
3.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
4.	SLC25A12 expression is associated with neurite outgrowth and is upregulated in the prefrontal cortex of autistic subjects.	Lepagnol-Bestel AM, etal., Mol Psychiatry. 2008 Apr;13(4):385-97. doi: 10.1038/sj.mp.4002120. Epub 2008 Jan 8.
5.	Neuronal and astrocytic shuttle mechanisms for cytosolic-mitochondrial transfer of reducing equivalents: current evidence and pharmacological tools.	McKenna MC, etal., Biochem Pharmacol. 2006 Feb 14;71(4):399-407. Epub 2005 Dec 20.
6.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
7.	SMPDB Annotation Import Pipeline	Pipeline to import SMPDB annotations from SMPDB into RGD
8.	Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism.	Ramoz N, etal., Am J Psychiatry 2004 Apr;161(4):662-9.
9.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
11.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
12.	Low-dose thyroxine attenuates autism-associated adverse effects of fetal alcohol in male offspring's social behavior and hippocampal gene expression.	Tunc-Ozcan E, etal., Alcohol Clin Exp Res. 2013 Nov;37(11):1986-95. doi: 10.1111/acer.12183. Epub 2013 Jun 13.
13.	NAD+/NADH and NADP+/NADPH in cellular functions and cell death: regulation and biological consequences.	Ying W Antioxid Redox Signal. 2008 Feb;10(2):179-206.

Additional References at PubMed

PMID:9722566	PMID:10369257	PMID:10702666	PMID:10965105	PMID:11566871	PMID:12477932	PMID:14702039	PMID:15494407	PMID:16122696	PMID:16205742	PMID:16263864	PMID:16648338
PMID:17237342	PMID:17314511	PMID:17353931	PMID:17497669	PMID:17500595	PMID:17693006	PMID:17894412	PMID:18348195	PMID:18607376	PMID:18729074	PMID:18996845	PMID:19041431
PMID:19360665	PMID:19401682	PMID:19598235	PMID:19641205	PMID:19913066	PMID:20015484	PMID:20186120	PMID:20195357	PMID:20833797	PMID:20877624	PMID:21609426	PMID:21691713
PMID:21873635	PMID:22268729	PMID:22304920	PMID:22810586	PMID:22939629	PMID:23085658	PMID:23266187	PMID:23874603	PMID:24515575	PMID:24529757	PMID:25315684	PMID:25410934
PMID:25663199	PMID:25852190	PMID:25921325	PMID:26344197	PMID:26496610	PMID:26549023	PMID:26618866	PMID:26638075	PMID:26972000	PMID:27132995	PMID:27342126	PMID:27499296
PMID:28514442	PMID:28536923	PMID:28902428	PMID:29229926	PMID:29467282	PMID:29509190	PMID:29509794	PMID:29564676	PMID:29568061	PMID:29764989	PMID:29955894	PMID:29987050
PMID:29991511	PMID:30021884	PMID:30196744	PMID:30274258	PMID:30397336	PMID:30463901	PMID:30619736	PMID:30669930	PMID:30940648	PMID:31073040	PMID:31091453	PMID:31409639
PMID:31536960	PMID:31586073	PMID:31617661	PMID:31620119	PMID:31753913	PMID:31767682	PMID:31839598	PMID:31980649	PMID:32203420	PMID:32319366	PMID:32628020	PMID:32683582
PMID:32807901	PMID:32877691	PMID:33001583	PMID:33226137	PMID:33567341	PMID:33853758	PMID:33961781	PMID:34079125	PMID:34299191	PMID:34349018	PMID:34591612	PMID:34732716
PMID:34800366	PMID:35253629	PMID:35391932	PMID:35509820	PMID:35575683	PMID:35687106	PMID:35777956	PMID:36114006	PMID:36168628	PMID:36215168	PMID:36517590	PMID:36538041
PMID:36597993	PMID:36708875	PMID:36774506	PMID:36898370	PMID:37223481	PMID:37317656	PMID:37647199	PMID:37788672	PMID:37827155	PMID:38697112	PMID:39096789

Genomics

Comparative Map Data

SLC25A12
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	2	171,783,405 - 171,894,244 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	171,783,405 - 171,999,859 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	172,639,915 - 172,750,754 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	172,349,126 - 172,458,979 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	2	172,466,387 - 172,576,240	NCBI
Celera	2	166,256,502 - 166,367,904 (-)	NCBI		Celera
Cytogenetic Map	2	q31.1	NCBI
HuRef	2	164,525,268 - 164,635,693 (-)	NCBI		HuRef
CHM1_1	2	172,646,763 - 172,757,956 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	2	172,260,855 - 172,372,092 (-)	NCBI		T2T-CHM13v2.0

Slc25a12
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	71,104,614 - 71,198,125 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	71,101,407 - 71,198,093 (-)	Ensembl		GRCm39 Ensembl
GRCm38	2	71,274,270 - 71,367,781 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	71,271,063 - 71,367,749 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	71,112,352 - 71,205,611 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	71,075,134 - 71,168,393 (-)	NCBI		MGSCv36	mm8
Celera	2	72,934,243 - 73,030,549 (-)	NCBI		Celera
Cytogenetic Map	2	C2	NCBI
cM Map	2	42.38	NCBI

Slc25a12
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	76,504,868 - 76,599,536 (-)	NCBI		GRCr8
mRatBN7.2	3	56,097,166 - 56,191,841 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	56,097,269 - 56,192,100 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	3	59,494,953 - 59,589,864 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	3	68,078,560 - 68,173,464 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	3	65,840,596 - 65,935,265 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	3	57,881,951 - 57,998,214 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	57,882,370 - 57,957,346 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	64,377,674 - 64,416,725 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Rnor_5.0	3	64,425,236 - 64,487,369 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	53,620,160 - 53,680,498	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	3	55,645,527 - 55,739,772 (-)	NCBI		Celera
Cytogenetic Map	3	q22	NCBI

Slc25a12
(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_004955449	3,093,603 - 3,186,737 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955449	3,093,603 - 3,182,513 (+)	NCBI	ChiLan1.0	ChiLan1.0

SLC25A12
(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-v2	13	74,460,821 - 74,684,204 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	2B	74,475,794 - 74,699,177 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	2B	59,071,123 - 59,297,327 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	2B	176,532,940 - 176,755,193 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	2B	176,532,940 - 176,641,894 (-)	Ensembl	panpan1.1		panPan2

SLC25A12
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	36	16,185,011 - 16,391,080 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	36	16,185,649 - 16,483,016 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	36	16,195,022 - 16,399,770 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	36	16,305,983 - 16,511,922 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	36	16,305,986 - 16,511,932 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	36	16,393,768 - 16,599,876 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	36	16,393,468 - 16,600,256 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	36	16,496,286 - 16,703,375 (-)	NCBI		UU_Cfam_GSD_1.0

Slc25a12
(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_024405303	133,440,179 - 133,608,738 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936509	1,990,116 - 2,077,938 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936509	1,994,082 - 2,077,731 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SLC25A12
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	15	77,895,938 - 78,098,383 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	15	77,895,935 - 78,021,930 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	15	87,284,119 - 87,308,544 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SLC25A12
(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	10	57,268,948 - 57,387,958 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	10	57,265,550 - 57,387,910 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666040	142,052,296 - 142,277,404 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Slc25a12
(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_004624787	9,184,514 - 9,320,060 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624787	9,187,450 - 9,319,684 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in SLC25A12
496 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_003705.5(SLC25A12):c.201C>G (p.Thr67=)	single nucleotide variant	not provided [RCV002127155]	Chr2:171868689 [GRCh38] Chr2:172725199 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.2020G>C (p.Val674Leu)	single nucleotide variant	not provided [RCV000521847]	Chr2:171785291 [GRCh38] Chr2:172641801 [GRCh37] Chr2:2q31.1	uncertain significance
GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	copy number loss	See cases [RCV000051201]	Chr2:164850117..175559190 [GRCh38] Chr2:165706627..176423918 [GRCh37] Chr2:165414873..176132164 [NCBI36] Chr2:2q24.3-31.1	pathogenic
GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	copy number loss	See cases [RCV000054122]	Chr2:163965382..182195062 [GRCh38] Chr2:164821892..183059789 [GRCh37] Chr2:164530138..182768034 [NCBI36] Chr2:2q24.3-32.1	pathogenic
GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	copy number loss	See cases [RCV000054123]	Chr2:164066038..172097886 [GRCh38] Chr2:164922548..172962614 [GRCh37] Chr2:164630794..172670860 [NCBI36] Chr2:2q24.3-31.1	pathogenic
NM_003705.5(SLC25A12):c.1417C>T (p.Arg473Trp)	single nucleotide variant	not provided [RCV000087208]	Chr2:171793656 [GRCh38] Chr2:172650166 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1769A>G (p.Gln590Arg)	single nucleotide variant	Developmental and epileptic encephalopathy, 39 [RCV000006523]	Chr2:171787637 [GRCh38] Chr2:172644147 [GRCh37] Chr2:2q31.1	pathogenic
GRCh38/hg38 2q31.1(chr2:170444219-172050237)x1	copy number loss	See cases [RCV000052553]	Chr2:170444219..172050237 [GRCh38] Chr2:171300729..172914965 [GRCh37] Chr2:171008975..172623211 [NCBI36] Chr2:2q31.1	pathogenic
GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	copy number loss	See cases [RCV000054127]	Chr2:170407688..186189894 [GRCh38] Chr2:171264198..187054621 [GRCh37] Chr2:170972444..186762866 [NCBI36] Chr2:2q31.1-32.1	pathogenic
NM_003705.4(SLC25A12):c.1387G>A (p.Gly463Arg)	single nucleotide variant	Malignant melanoma [RCV000065204]	Chr2:171793686 [GRCh38] Chr2:172650196 [GRCh37] Chr2:172358442 [NCBI36] Chr2:2q31.1	not provided
GRCh37/hg19 2q31.1(chr2:172644081-172644457)	copy number loss	Developmental and epileptic encephalopathy, 39 [RCV001004098]	Chr2:172644081..172644457 [GRCh37] Chr2:2q31.1	pathogenic
GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	copy number loss	See cases [RCV000136850]	Chr2:171429233..189179568 [GRCh38] Chr2:172285743..190044294 [GRCh37] Chr2:171993989..189752539 [NCBI36] Chr2:2q31.1-32.2	pathogenic
GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1	copy number loss	See cases [RCV000139646]	Chr2:171513047..177854080 [GRCh38] Chr2:172369557..178718807 [GRCh37] Chr2:172077803..178427053 [NCBI36] Chr2:2q31.1-31.2	pathogenic
GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	copy number gain	See cases [RCV000142286]	Chr2:154294042..175989372 [GRCh38] Chr2:155150555..176854100 [GRCh37] Chr2:154858801..176562346 [NCBI36] Chr2:2q24.1-31.1	pathogenic
NM_003705.5(SLC25A12):c.67-6T>A	single nucleotide variant	Developmental and epileptic encephalopathy, 39 [RCV000768317]	Chr2:171868829 [GRCh38] Chr2:172725339 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.*988C>T	single nucleotide variant	Hypomyelination, global cerebral [RCV000265015]	Chr2:171784286 [GRCh38] Chr2:172640796 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1468C>T (p.Arg490Ter)	single nucleotide variant	not provided [RCV001941986]	Chr2:171791568 [GRCh38] Chr2:172648078 [GRCh37] Chr2:2q31.1	pathogenic\|likely pathogenic\|uncertain significance
NM_003705.5(SLC25A12):c.*739G>C	single nucleotide variant	Hypomyelination, global cerebral [RCV000261530]	Chr2:171784535 [GRCh38] Chr2:172641045 [GRCh37] Chr2:2q31.1	likely benign
Single allele	duplication	Autism spectrum disorder [RCV000225556]	Chr2:172194538..172381699 [NCBI36] Chr2:2q31.1	uncertain significance
GRCh37/hg19 2q31.1(chr2:172379152-172803266)x3	copy number gain	Breast ductal adenocarcinoma [RCV000207099]	Chr2:172379152..172803266 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1172-10del	deletion	not provided [RCV000676745]	Chr2:171810286 [GRCh38] Chr2:172666796 [GRCh37] Chr2:2q31.1	benign\|likely benign
NM_003705.5(SLC25A12):c.728G>A (p.Arg243Lys)	single nucleotide variant	not provided [RCV000676746]	Chr2:171834750 [GRCh38] Chr2:172691260 [GRCh37] Chr2:2q31.1	benign\|likely benign\|uncertain significance
NM_003705.5(SLC25A12):c.*694G>C	single nucleotide variant	Hypomyelination, global cerebral [RCV000316733]	Chr2:171784580 [GRCh38] Chr2:172641090 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.466-3C>T	single nucleotide variant	not provided [RCV000676749]	Chr2:171837270 [GRCh38] Chr2:172693780 [GRCh37] Chr2:2q31.1	benign\|likely benign
NM_003705.5(SLC25A12):c.1058G>A (p.Arg353Gln)	single nucleotide variant	Developmental and epileptic encephalopathy, 39 [RCV000239515]\|not provided [RCV001222846]	Chr2:171813452 [GRCh38] Chr2:172669962 [GRCh37] Chr2:2q31.1	pathogenic\|uncertain significance
NM_003705.5(SLC25A12):c.1458G>A (p.Ala486=)	single nucleotide variant	SLC25A12-related disorder [RCV003922431]\|not provided [RCV000474855]	Chr2:171791578 [GRCh38] Chr2:172648088 [GRCh37] Chr2:2q31.1	benign\|likely benign\|uncertain significance
NM_003705.5(SLC25A12):c.99T>C (p.Tyr33=)	single nucleotide variant	Developmental and epileptic encephalopathy, 39 [RCV001807240]\|not provided [RCV000676750]	Chr2:171868791 [GRCh38] Chr2:172725301 [GRCh37] Chr2:2q31.1	benign
GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	copy number gain	See cases [RCV000239848]	Chr2:156489430..182921298 [GRCh37] Chr2:2q24.1-31.3	pathogenic
NM_003705.5(SLC25A12):c.957C>A (p.Ile319=)	single nucleotide variant	not provided [RCV000867271]	Chr2:171815176 [GRCh38] Chr2:172671686 [GRCh37] Chr2:2q31.1	benign\|uncertain significance
NM_003705.5(SLC25A12):c.*124G>A	single nucleotide variant	Hypomyelination, global cerebral [RCV000276754]	Chr2:171785150 [GRCh38] Chr2:172641660 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.*965A>G	single nucleotide variant	Hypomyelination, global cerebral [RCV000301485]	Chr2:171784309 [GRCh38] Chr2:172640819 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.737T>C (p.Val246Ala)	single nucleotide variant	Hypomyelination, global cerebral [RCV000337996]	Chr2:171834741 [GRCh38] Chr2:172691251 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.189A>G (p.Val63=)	single nucleotide variant	not provided [RCV003740023]	Chr2:171868701 [GRCh38] Chr2:172725211 [GRCh37] Chr2:2q31.1	likely benign\|uncertain significance
NM_003705.5(SLC25A12):c.*994C>T	single nucleotide variant	Developmental and epileptic encephalopathy, 39 [RCV000359697]	Chr2:171784280 [GRCh38] Chr2:172640790 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1338A>C (p.Pro446=)	single nucleotide variant	SLC25A12-related disorder [RCV003912398]\|not provided [RCV000676743]	Chr2:171793735 [GRCh38] Chr2:172650245 [GRCh37] Chr2:2q31.1	benign\|likely benign\|uncertain significance
NM_003705.5(SLC25A12):c.1909G>A (p.Gly637Ser)	single nucleotide variant	Inborn genetic diseases [RCV004678680]\|not provided [RCV001240487]	Chr2:171785402 [GRCh38] Chr2:172641912 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1665G>A (p.Thr555=)	single nucleotide variant	not provided [RCV000863389]	Chr2:171787868 [GRCh38] Chr2:172644378 [GRCh37] Chr2:2q31.1	likely benign\|uncertain significance
NM_003705.5(SLC25A12):c.*165C>T	single nucleotide variant	Hypomyelination, global cerebral [RCV000389865]	Chr2:171785109 [GRCh38] Chr2:172641619 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.*1281G>A	single nucleotide variant	Hypomyelination, global cerebral [RCV000393132]	Chr2:171783993 [GRCh38] Chr2:172640503 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.*72T>A	single nucleotide variant	Hypomyelination, global cerebral [RCV000331711]	Chr2:171785202 [GRCh38] Chr2:172641712 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.4G>A (p.Ala2Thr)	single nucleotide variant	Inborn genetic diseases [RCV004456401]	Chr2:171894211 [GRCh38] Chr2:172750721 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.*1553T>C	single nucleotide variant	Hypomyelination, global cerebral [RCV000347258]	Chr2:171783721 [GRCh38] Chr2:172640231 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.*995G>A	single nucleotide variant	Hypomyelination, global cerebral [RCV000304862]	Chr2:171784279 [GRCh38] Chr2:172640789 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.*1251A>G	single nucleotide variant	Hypomyelination, global cerebral [RCV000308380]	Chr2:171784023 [GRCh38] Chr2:172640533 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.659A>G (p.Asn220Ser)	single nucleotide variant	Hypomyelination, global cerebral [RCV000298194]	Chr2:171834819 [GRCh38] Chr2:172691329 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.*754C>A	single nucleotide variant	Hypomyelination, global cerebral [RCV000356349]	Chr2:171784520 [GRCh38] Chr2:172641030 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1385C>T (p.Thr462Met)	single nucleotide variant	not provided [RCV000523990]	Chr2:171793688 [GRCh38] Chr2:172650198 [GRCh37] Chr2:2q31.1	uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3	copy number gain	See cases [RCV000448271]	Chr2:169829974..215521436 [GRCh37] Chr2:2q31.1-35	pathogenic
NM_003705.5(SLC25A12):c.1273C>G (p.Pro425Ala)	single nucleotide variant	not provided [RCV000465927]	Chr2:171809638 [GRCh38] Chr2:172666148 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.67-18ATTT[2]	microsatellite	not provided [RCV001369989]	Chr2:171868830..171868833 [GRCh38] Chr2:172725340..172725343 [GRCh37] Chr2:2q31.1	likely benign\|uncertain significance
NM_003705.5(SLC25A12):c.1692C>A (p.Phe564Leu)	single nucleotide variant	not provided [RCV000456601]	Chr2:171787841 [GRCh38] Chr2:172644351 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1618G>A (p.Asp540Asn)	single nucleotide variant	Developmental and epileptic encephalopathy, 39 [RCV000578394]	Chr2:171787915 [GRCh38] Chr2:172644425 [GRCh37] Chr2:2q31.1	likely pathogenic
NM_003705.5(SLC25A12):c.697C>T (p.Arg233Cys)	single nucleotide variant	not provided [RCV000676747]	Chr2:171834781 [GRCh38] Chr2:172691291 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.2033A>T (p.Gln678Leu)	single nucleotide variant	not provided [RCV000676740]	Chr2:171785278 [GRCh38] Chr2:172641788 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1386G>A (p.Thr462=)	single nucleotide variant	not provided [RCV000676742]	Chr2:171793687 [GRCh38] Chr2:172650197 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1324A>G (p.Ile442Val)	single nucleotide variant	Inborn genetic diseases [RCV003163072]\|not provided [RCV000676744]	Chr2:171793749 [GRCh38] Chr2:172650259 [GRCh37] Chr2:2q31.1	uncertain significance
GRCh37/hg19 2q31.1(chr2:172344870-173038935)x4	copy number gain	Isolated Pierre-Robin syndrome [RCV000677198]	Chr2:172344870..173038935 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.125G>A (p.Arg42His)	single nucleotide variant	Developmental and epileptic encephalopathy, 39 [RCV000709808]\|not provided [RCV002532894]	Chr2:171868765 [GRCh38] Chr2:172725275 [GRCh37] Chr2:2q31.1	uncertain significance\|not provided
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3	copy number gain	not provided [RCV000752804]	Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2q23.3-31.2(chr2:152409978-179325736)x3	copy number gain	not provided [RCV000740654]	Chr2:152409978..179325736 [GRCh37] Chr2:2q23.3-31.2	pathogenic
NM_003705.5(SLC25A12):c.779A>G (p.Tyr260Cys)	single nucleotide variant	Inborn genetic diseases [RCV004678924]\|not provided [RCV001054630]	Chr2:171834029 [GRCh38] Chr2:172690539 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1323C>A (p.Val441=)	single nucleotide variant	not provided [RCV000866406]	Chr2:171793750 [GRCh38] Chr2:172650260 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.813A>G (p.Leu271=)	single nucleotide variant	SLC25A12-related disorder [RCV003948097]\|not provided [RCV000865004]	Chr2:171833995 [GRCh38] Chr2:172690505 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.13-8G>T	single nucleotide variant	not provided [RCV000950955]	Chr2:171893266 [GRCh38] Chr2:172749776 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.422G>A (p.Arg141Gln)	single nucleotide variant	not provided [RCV001071134]	Chr2:171844412 [GRCh38] Chr2:172700922 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1948G>A (p.Glu650Lys)	single nucleotide variant	not provided [RCV001043834]	Chr2:171785363 [GRCh38] Chr2:172641873 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1963C>T (p.Leu655Phe)	single nucleotide variant	not provided [RCV001050397]	Chr2:171785348 [GRCh38] Chr2:172641858 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.25A>G (p.Lys9Glu)	single nucleotide variant	not provided [RCV001034738]	Chr2:171893246 [GRCh38] Chr2:172749756 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1811G>T (p.Trp604Leu)	single nucleotide variant	not provided [RCV001047947]	Chr2:171787595 [GRCh38] Chr2:172644105 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.95G>A (p.Arg32His)	single nucleotide variant	Inborn genetic diseases [RCV002552515]\|not provided [RCV001042991]	Chr2:171868795 [GRCh38] Chr2:172725305 [GRCh37] Chr2:2q31.1	likely benign\|uncertain significance
NM_003705.5(SLC25A12):c.930+3dup	duplication	Developmental and epileptic encephalopathy, 39 [RCV001291821]\|not provided [RCV000797848]	Chr2:171826794..171826795 [GRCh38] Chr2:172683304..172683305 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.613-9A>C	single nucleotide variant	not provided [RCV000964669]	Chr2:171834874 [GRCh38] Chr2:172691384 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.469C>T (p.Leu157=)	single nucleotide variant	SLC25A12-related disorder [RCV003955601]\|not provided [RCV000863333]	Chr2:171837264 [GRCh38] Chr2:172693774 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.972C>T (p.Ala324=)	single nucleotide variant	not provided [RCV000927163]	Chr2:171815161 [GRCh38] Chr2:172671671 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1683C>T (p.Ile561=)	single nucleotide variant	not provided [RCV000896647]	Chr2:171787850 [GRCh38] Chr2:172644360 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1548G>A (p.Val516=)	single nucleotide variant	Developmental and epileptic encephalopathy, 39 [RCV001334168]\|not provided [RCV000976651]	Chr2:171791488 [GRCh38] Chr2:172647998 [GRCh37] Chr2:2q31.1	likely benign\|uncertain significance
NM_003705.5(SLC25A12):c.931-6C>T	single nucleotide variant	not provided [RCV000937857]	Chr2:171815208 [GRCh38] Chr2:172671718 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1552G>A (p.Gly518Ser)	single nucleotide variant	Inborn genetic diseases [RCV002538194]\|not provided [RCV000824034]	Chr2:171791484 [GRCh38] Chr2:172647994 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.308A>G (p.Asn103Ser)	single nucleotide variant	not provided [RCV000824526]	Chr2:171855851 [GRCh38] Chr2:172712361 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1190T>C (p.Ile397Thr)	single nucleotide variant	Inborn genetic diseases [RCV004678826]\|not provided [RCV000794352]	Chr2:171810258 [GRCh38] Chr2:172666768 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.436_438del (p.Asn146del)	deletion	not provided [RCV000807585]	Chr2:171844396..171844398 [GRCh38] Chr2:172700906..172700908 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1981A>C (p.Lys661Gln)	single nucleotide variant	Inborn genetic diseases [RCV004962825]\|not provided [RCV000805644]	Chr2:171785330 [GRCh38] Chr2:172641840 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.16C>T (p.Gln6Ter)	single nucleotide variant	not provided [RCV000817056]	Chr2:171893255 [GRCh38] Chr2:172749765 [GRCh37] Chr2:2q31.1	pathogenic\|uncertain significance
NM_003705.5(SLC25A12):c.104C>T (p.Thr35Ile)	single nucleotide variant	Inborn genetic diseases [RCV004027997]\|not provided [RCV000799481]	Chr2:171868786 [GRCh38] Chr2:172725296 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1843G>A (p.Ala615Thr)	single nucleotide variant	not provided [RCV000800489]	Chr2:171785468 [GRCh38] Chr2:172641978 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1947C>G (p.Ile649Met)	single nucleotide variant	not provided [RCV000807895]	Chr2:171785364 [GRCh38] Chr2:172641874 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.35A>C (p.Asp12Ala)	single nucleotide variant	not provided [RCV000808151]	Chr2:171893236 [GRCh38] Chr2:172749746 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1706G>A (p.Arg569Gln)	single nucleotide variant	not provided [RCV000824402]	Chr2:171787827 [GRCh38] Chr2:172644337 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.910C>G (p.Leu304Val)	single nucleotide variant	not provided [RCV000814984]	Chr2:171826818 [GRCh38] Chr2:172683328 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.905A>G (p.Tyr302Cys)	single nucleotide variant	Inborn genetic diseases [RCV002553854]\|not provided [RCV001058948]	Chr2:171826823 [GRCh38] Chr2:172683333 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.967A>T (p.Ile323Phe)	single nucleotide variant	Inborn genetic diseases [RCV002536937]\|not provided [RCV000792215]	Chr2:171815166 [GRCh38] Chr2:172671676 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.551A>G (p.Asp184Gly)	single nucleotide variant	Inborn genetic diseases [RCV004027514]\|not provided [RCV000795026]	Chr2:171837182 [GRCh38] Chr2:172693692 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1785G>A (p.Leu595=)	single nucleotide variant	not provided [RCV000797239]	Chr2:171787621 [GRCh38] Chr2:172644131 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1568C>T (p.Ala523Val)	single nucleotide variant	not provided [RCV000821147]	Chr2:171791468 [GRCh38] Chr2:172647978 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.737T>G (p.Val246Gly)	single nucleotide variant	not provided [RCV001052655]	Chr2:171834741 [GRCh38] Chr2:172691251 [GRCh37] Chr2:2q31.1	uncertain significance
GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	copy number loss	not provided [RCV000848216]	Chr2:167329586..192756373 [GRCh37] Chr2:2q24.3-32.3	pathogenic
NM_003705.5(SLC25A12):c.1224+1_1224+2del	deletion	not provided [RCV001062341]	Chr2:171810222..171810223 [GRCh38] Chr2:172666732..172666733 [GRCh37] Chr2:2q31.1	likely pathogenic\|uncertain significance
NM_003705.5(SLC25A12):c.94C>T (p.Arg32Cys)	single nucleotide variant	Inborn genetic diseases [RCV004031960]\|not provided [RCV001061489]	Chr2:171868796 [GRCh38] Chr2:172725306 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.895G>A (p.Ala299Thr)	single nucleotide variant	not provided [RCV001202478]	Chr2:171826833 [GRCh38] Chr2:172683343 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.2001G>A (p.Val667=)	single nucleotide variant	not provided [RCV001230935]	Chr2:171785310 [GRCh38] Chr2:172641820 [GRCh37] Chr2:2q31.1	likely benign\|uncertain significance
NM_003705.5(SLC25A12):c.1268C>G (p.Ser423Cys)	single nucleotide variant	not provided [RCV001248375]	Chr2:171809643 [GRCh38] Chr2:172666153 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.7G>A (p.Val3Ile)	single nucleotide variant	not provided [RCV001203082]	Chr2:171894208 [GRCh38] Chr2:172750718 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.335A>G (p.Lys112Arg)	single nucleotide variant	not provided [RCV001237511]	Chr2:171844499 [GRCh38] Chr2:172701009 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1533T>G (p.Asp511Glu)	single nucleotide variant	Inborn genetic diseases [RCV003259167]\|not provided [RCV001220909]	Chr2:171791503 [GRCh38] Chr2:172648013 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.2009C>T (p.Pro670Leu)	single nucleotide variant	Inborn genetic diseases [RCV002563646]\|not provided [RCV001223291]	Chr2:171785302 [GRCh38] Chr2:172641812 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.355A>G (p.Ile119Val)	single nucleotide variant	not provided [RCV001052310]	Chr2:171844479 [GRCh38] Chr2:172700989 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.182C>T (p.Ala61Val)	single nucleotide variant	not provided [RCV001213031]	Chr2:171868708 [GRCh38] Chr2:172725218 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1171+17C>G	single nucleotide variant	Developmental and epileptic encephalopathy, 39 [RCV001196517]\|not provided [RCV002069280]	Chr2:171813322 [GRCh38] Chr2:172669832 [GRCh37] Chr2:2q31.1	benign
GRCh37/hg19 2q31.1(chr2:172610949-172900426)x3	copy number gain	not provided [RCV000846456]	Chr2:172610949..172900426 [GRCh37] Chr2:2q31.1	uncertain significance
NC_000002.11:g.(?_171675102)_(174232392_?)dup	duplication	not provided [RCV003107721]	Chr2:171675102..174232392 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.13-7C>T	single nucleotide variant	not provided [RCV000888220]	Chr2:171893265 [GRCh38] Chr2:172749775 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1401C>T (p.Ser467=)	single nucleotide variant	not provided [RCV000867007]	Chr2:171793672 [GRCh38] Chr2:172650182 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.657C>T (p.Phe219=)	single nucleotide variant	not provided [RCV000908078]	Chr2:171834821 [GRCh38] Chr2:172691331 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1585+10A>C	single nucleotide variant	not provided [RCV000978015]	Chr2:171791441 [GRCh38] Chr2:172647951 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1869A>G (p.Ser623=)	single nucleotide variant	not provided [RCV000931316]	Chr2:171785442 [GRCh38] Chr2:172641952 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1685A>T (p.Asp562Val)	single nucleotide variant	not provided [RCV001053955]	Chr2:171787848 [GRCh38] Chr2:172644358 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1538A>G (p.Asn513Ser)	single nucleotide variant	not provided [RCV001058622]	Chr2:171791498 [GRCh38] Chr2:172648008 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1446+5G>A	single nucleotide variant	not provided [RCV001058906]	Chr2:171793622 [GRCh38] Chr2:172650132 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.452C>T (p.Thr151Met)	single nucleotide variant	not provided [RCV001244152]	Chr2:171844382 [GRCh38] Chr2:172700892 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.326-2A>C	single nucleotide variant	Developmental and epileptic encephalopathy, 39 [RCV000991369]	Chr2:171844510 [GRCh38] Chr2:172701020 [GRCh37] Chr2:2q31.1	likely pathogenic
NM_003705.5(SLC25A12):c.1036C>T (p.Pro346Ser)	single nucleotide variant	not provided [RCV001047389]	Chr2:171813474 [GRCh38] Chr2:172669984 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1855C>G (p.Pro619Ala)	single nucleotide variant	not provided [RCV001043098]	Chr2:171785456 [GRCh38] Chr2:172641966 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.567T>C (p.Ile189=)	single nucleotide variant	not provided [RCV001219033]	Chr2:171837166 [GRCh38] Chr2:172693676 [GRCh37] Chr2:2q31.1	likely benign\|uncertain significance
NM_003705.5(SLC25A12):c.559G>T (p.Val187Phe)	single nucleotide variant	not provided [RCV001043968]	Chr2:171837174 [GRCh38] Chr2:172693684 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1819A>T (p.Ile607Phe)	single nucleotide variant	not provided [RCV001231922]	Chr2:171787587 [GRCh38] Chr2:172644097 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.66+3A>G	single nucleotide variant	not provided [RCV001235237]	Chr2:171893202 [GRCh38] Chr2:172749712 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.525C>T (p.Gly175=)	single nucleotide variant	not provided [RCV001044943]	Chr2:171837208 [GRCh38] Chr2:172693718 [GRCh37] Chr2:2q31.1	likely benign\|uncertain significance
NM_003705.5(SLC25A12):c.451A>G (p.Thr151Ala)	single nucleotide variant	not provided [RCV001215389]	Chr2:171844383 [GRCh38] Chr2:172700893 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.845+4_845+7del	deletion	not provided [RCV001230811]	Chr2:171833956..171833959 [GRCh38] Chr2:172690466..172690469 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.331G>T (p.Val111Phe)	single nucleotide variant	not provided [RCV001232940]	Chr2:171844503 [GRCh38] Chr2:172701013 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.973G>A (p.Glu325Lys)	single nucleotide variant	not provided [RCV001039030]	Chr2:171815160 [GRCh38] Chr2:172671670 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.698G>A (p.Arg233His)	single nucleotide variant	not provided [RCV001040462]	Chr2:171834780 [GRCh38] Chr2:172691290 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.932A>G (p.Gln311Arg)	single nucleotide variant	not provided [RCV001042220]	Chr2:171815201 [GRCh38] Chr2:172671711 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1474A>G (p.Ile492Val)	single nucleotide variant	not provided [RCV001203772]	Chr2:171791562 [GRCh38] Chr2:172648072 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.602_607del (p.Asn201_Val203delinsIle)	deletion	not provided [RCV001229447]	Chr2:171837126..171837131 [GRCh38] Chr2:172693636..172693641 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.846G>A (p.Gly282=)	single nucleotide variant	not provided [RCV001311228]	Chr2:171826882 [GRCh38] Chr2:172683392 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1331C>T (p.Thr444Ile)	single nucleotide variant	Inborn genetic diseases [RCV001266757]	Chr2:171793742 [GRCh38] Chr2:172650252 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.550G>T (p.Asp184Tyr)	single nucleotide variant	not provided [RCV001337871]	Chr2:171837183 [GRCh38] Chr2:172693693 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1829G>A (p.Gly610Glu)	single nucleotide variant	not provided [RCV001326848]	Chr2:171787577 [GRCh38] Chr2:172644087 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1738A>G (p.Thr580Ala)	single nucleotide variant	not provided [RCV001338592]	Chr2:171787795 [GRCh38] Chr2:172644305 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.502C>G (p.Leu168Val)	single nucleotide variant	not provided [RCV001298845]	Chr2:171837231 [GRCh38] Chr2:172693741 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1157T>C (p.Phe386Ser)	single nucleotide variant	not provided [RCV001339952]	Chr2:171813353 [GRCh38] Chr2:172669863 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1681A>G (p.Ile561Val)	single nucleotide variant	not provided [RCV001299465]	Chr2:171787852 [GRCh38] Chr2:172644362 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.41A>G (p.His14Arg)	single nucleotide variant	not provided [RCV001297653]	Chr2:171893230 [GRCh38] Chr2:172749740 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.473A>G (p.Gln158Arg)	single nucleotide variant	not provided [RCV001368700]	Chr2:171837260 [GRCh38] Chr2:172693770 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1973C>T (p.Pro658Leu)	single nucleotide variant	not provided [RCV001359773]	Chr2:171785338 [GRCh38] Chr2:172641848 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1791T>C (p.Thr597=)	single nucleotide variant	not provided [RCV001396128]	Chr2:171787615 [GRCh38] Chr2:172644125 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1305+7A>G	single nucleotide variant	not provided [RCV001422677]	Chr2:171809599 [GRCh38] Chr2:172666109 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1142G>A (p.Arg381His)	single nucleotide variant	Inborn genetic diseases [RCV004968085]\|not provided [RCV001344739]	Chr2:171813368 [GRCh38] Chr2:172669878 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.847C>T (p.Arg283Cys)	single nucleotide variant	not provided [RCV001345790]	Chr2:171826881 [GRCh38] Chr2:172683391 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.147T>A (p.Asp49Glu)	single nucleotide variant	not provided [RCV001369592]	Chr2:171868743 [GRCh38] Chr2:172725253 [GRCh37] Chr2:2q31.1	uncertain significance
NC_000002.11:g.(?_172291068)_(172750744_?)dup	duplication	not provided [RCV001308685]	Chr2:172291068..172750744 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.597G>A (p.Glu199=)	single nucleotide variant	not provided [RCV001321818]	Chr2:171837136 [GRCh38] Chr2:172693646 [GRCh37] Chr2:2q31.1	likely benign\|uncertain significance
NM_003705.5(SLC25A12):c.1790C>T (p.Thr597Ile)	single nucleotide variant	not provided [RCV001324161]	Chr2:171787616 [GRCh38] Chr2:172644126 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1606G>A (p.Val536Met)	single nucleotide variant	not provided [RCV001320548]	Chr2:171787927 [GRCh38] Chr2:172644437 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.22A>G (p.Thr8Ala)	single nucleotide variant	not provided [RCV001374239]	Chr2:171893249 [GRCh38] Chr2:172749759 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1702C>T (p.Leu568Phe)	single nucleotide variant	not provided [RCV001306033]	Chr2:171787831 [GRCh38] Chr2:172644341 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.124C>A (p.Arg42Ser)	single nucleotide variant	not provided [RCV001314255]	Chr2:171868766 [GRCh38] Chr2:172725276 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.886G>C (p.Ala296Pro)	single nucleotide variant	not provided [RCV001306175]	Chr2:171826842 [GRCh38] Chr2:172683352 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1039A>G (p.Ile347Val)	single nucleotide variant	Inborn genetic diseases [RCV004034168]\|not provided [RCV001308376]	Chr2:171813471 [GRCh38] Chr2:172669981 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1241G>A (p.Arg414Gln)	single nucleotide variant	not provided [RCV001296467]	Chr2:171809670 [GRCh38] Chr2:172666180 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.707A>G (p.Tyr236Cys)	single nucleotide variant	not provided [RCV001338229]	Chr2:171834771 [GRCh38] Chr2:172691281 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1947C>T (p.Ile649=)	single nucleotide variant	not provided [RCV001395705]	Chr2:171785364 [GRCh38] Chr2:172641874 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.421C>T (p.Arg141Trp)	single nucleotide variant	Inborn genetic diseases [RCV002546064]\|not provided [RCV001319167]	Chr2:171844413 [GRCh38] Chr2:172700923 [GRCh37] Chr2:2q31.1	uncertain significance
GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361)	copy number loss	3-4 finger osseus syndactyly [RCV001352646]	Chr2:171999572..182774361 [GRCh37] Chr2:2q31.1-31.3	pathogenic
NM_003705.5(SLC25A12):c.309T>C (p.Asn103=)	single nucleotide variant	not provided [RCV001490318]	Chr2:171855850 [GRCh38] Chr2:172712360 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1446+9G>A	single nucleotide variant	not provided [RCV001475673]	Chr2:171793618 [GRCh38] Chr2:172650128 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.453G>T (p.Thr151=)	single nucleotide variant	not provided [RCV001503466]	Chr2:171844381 [GRCh38] Chr2:172700891 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1638G>C (p.Leu546=)	single nucleotide variant	not provided [RCV001463427]	Chr2:171787895 [GRCh38] Chr2:172644405 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1225-8C>G	single nucleotide variant	not provided [RCV001477432]	Chr2:171809694 [GRCh38] Chr2:172666204 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.910C>T (p.Leu304=)	single nucleotide variant	not provided [RCV001488891]	Chr2:171826818 [GRCh38] Chr2:172683328 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.90A>G (p.Gly30=)	single nucleotide variant	not provided [RCV001411874]	Chr2:171868800 [GRCh38] Chr2:172725310 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1835+10C>A	single nucleotide variant	not provided [RCV001411947]	Chr2:171787561 [GRCh38] Chr2:172644071 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1745-9_1745-8del	microsatellite	not provided [RCV001402116]	Chr2:171787669..171787670 [GRCh38] Chr2:172644179..172644180 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.453G>C (p.Thr151=)	single nucleotide variant	not provided [RCV001397732]	Chr2:171844381 [GRCh38] Chr2:172700891 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1045C>T (p.Leu349=)	single nucleotide variant	not provided [RCV001436533]	Chr2:171813465 [GRCh38] Chr2:172669975 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.483T>C (p.His161=)	single nucleotide variant	not provided [RCV001409800]	Chr2:171837250 [GRCh38] Chr2:172693760 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.474A>G (p.Gln158=)	single nucleotide variant	not provided [RCV001449168]	Chr2:171837259 [GRCh38] Chr2:172693769 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1974G>A (p.Pro658=)	single nucleotide variant	not provided [RCV001402371]	Chr2:171785337 [GRCh38] Chr2:172641847 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1044T>C (p.Asp348=)	single nucleotide variant	not provided [RCV001392889]	Chr2:171813466 [GRCh38] Chr2:172669976 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.466-5C>T	single nucleotide variant	not provided [RCV001393477]	Chr2:171837272 [GRCh38] Chr2:172693782 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1953C>T (p.Asn651=)	single nucleotide variant	not provided [RCV001436398]	Chr2:171785358 [GRCh38] Chr2:172641868 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.66+9G>T	single nucleotide variant	not provided [RCV001418077]	Chr2:171893196 [GRCh38] Chr2:172749706 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1402G>A (p.Ala468Thr)	single nucleotide variant	not provided [RCV001408989]	Chr2:171793671 [GRCh38] Chr2:172650181 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1893C>T (p.Ala631=)	single nucleotide variant	not provided [RCV001470032]	Chr2:171785418 [GRCh38] Chr2:172641928 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1719C>T (p.Pro573=)	single nucleotide variant	not provided [RCV001501112]	Chr2:171787814 [GRCh38] Chr2:172644324 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1653C>T (p.Arg551=)	single nucleotide variant	not provided [RCV001442537]	Chr2:171787880 [GRCh38] Chr2:172644390 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.168C>T (p.Ile56=)	single nucleotide variant	not provided [RCV001458570]	Chr2:171868722 [GRCh38] Chr2:172725232 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1611C>T (p.Thr537=)	single nucleotide variant	not provided [RCV001498187]	Chr2:171787922 [GRCh38] Chr2:172644432 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1314C>A (p.Gly438=)	single nucleotide variant	not provided [RCV001423264]	Chr2:171793759 [GRCh38] Chr2:172650269 [GRCh37] Chr2:2q31.1	likely benign
GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1	copy number loss	2q24 microdeletion syndrome [RCV002271993]	Chr2:160347642..174075851 [GRCh37] Chr2:2q24.2-31.1	pathogenic
NM_003705.5(SLC25A12):c.336A>T (p.Lys112Asn)	single nucleotide variant	not provided [RCV001949728]	Chr2:171844498 [GRCh38] Chr2:172701008 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1584A>G (p.Ala528=)	single nucleotide variant	not provided [RCV002008719]	Chr2:171791452 [GRCh38] Chr2:172647962 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.2029A>T (p.Thr677Ser)	single nucleotide variant	not provided [RCV001896912]	Chr2:171785282 [GRCh38] Chr2:172641792 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.410T>C (p.Phe137Ser)	single nucleotide variant	Developmental and epileptic encephalopathy, 39 [RCV001837056]	Chr2:171844424 [GRCh38] Chr2:172700934 [GRCh37] Chr2:2q31.1	likely pathogenic
NM_003705.5(SLC25A12):c.1624A>G (p.Ile542Val)	single nucleotide variant	not provided [RCV001945366]	Chr2:171787909 [GRCh38] Chr2:172644419 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.832T>C (p.Tyr278His)	single nucleotide variant	not provided [RCV001913023]	Chr2:171833976 [GRCh38] Chr2:172690486 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1679T>A (p.Val560Asp)	single nucleotide variant	not provided [RCV002023749]	Chr2:171787854 [GRCh38] Chr2:172644364 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1429A>G (p.Ile477Val)	single nucleotide variant	not provided [RCV001983183]	Chr2:171793644 [GRCh38] Chr2:172650154 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.628A>G (p.Ile210Val)	single nucleotide variant	not provided [RCV002043219]	Chr2:171834850 [GRCh38] Chr2:172691360 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1267T>C (p.Ser423Pro)	single nucleotide variant	not provided [RCV002022570]	Chr2:171809644 [GRCh38] Chr2:172666154 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1619A>G (p.Asp540Gly)	single nucleotide variant	not provided [RCV001928424]	Chr2:171787914 [GRCh38] Chr2:172644424 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1305+19C>T	single nucleotide variant	not provided [RCV001895261]	Chr2:171809587 [GRCh38] Chr2:172666097 [GRCh37] Chr2:2q31.1	likely benign\|uncertain significance
NM_003705.5(SLC25A12):c.125G>T (p.Arg42Leu)	single nucleotide variant	not provided [RCV002004769]	Chr2:171868765 [GRCh38] Chr2:172725275 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1304_1305+2del	deletion	not provided [RCV002006221]	Chr2:171809604..171809607 [GRCh38] Chr2:172666114..172666117 [GRCh37] Chr2:2q31.1	likely pathogenic
NM_003705.5(SLC25A12):c.1207A>G (p.Lys403Glu)	single nucleotide variant	not provided [RCV001892096]	Chr2:171810241 [GRCh38] Chr2:172666751 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1013-10C>G	single nucleotide variant	not provided [RCV001964308]	Chr2:171813507 [GRCh38] Chr2:172670017 [GRCh37] Chr2:2q31.1	likely benign\|uncertain significance
NM_003705.5(SLC25A12):c.1081G>A (p.Gly361Ser)	single nucleotide variant	not provided [RCV001967416]	Chr2:171813429 [GRCh38] Chr2:172669939 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1924G>A (p.Ala642Thr)	single nucleotide variant	not provided [RCV001965645]	Chr2:171785387 [GRCh38] Chr2:172641897 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.968T>C (p.Ile323Thr)	single nucleotide variant	not provided [RCV002037001]	Chr2:171815165 [GRCh38] Chr2:172671675 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.777C>G (p.Arg259=)	single nucleotide variant	not provided [RCV001941210]	Chr2:171834031 [GRCh38] Chr2:172690541 [GRCh37] Chr2:2q31.1	likely benign\|uncertain significance
NM_003705.5(SLC25A12):c.13G>C (p.Val5Leu)	single nucleotide variant	Inborn genetic diseases [RCV003348650]\|not provided [RCV001960018]	Chr2:171893258 [GRCh38] Chr2:172749768 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1291C>G (p.Leu431Val)	single nucleotide variant	not provided [RCV002016352]	Chr2:171809620 [GRCh38] Chr2:172666130 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1631C>G (p.Thr544Arg)	single nucleotide variant	not provided [RCV001886766]	Chr2:171787902 [GRCh38] Chr2:172644412 [GRCh37] Chr2:2q31.1	uncertain significance
NC_000002.11:g.(?_172647941)_(172750724_?)dup	duplication	not provided [RCV002033755]	Chr2:172647941..172750724 [GRCh37] Chr2:2q31.1	uncertain significance
NC_000002.11:g.(?_172669829)_(172671732_?)del	deletion	not provided [RCV001959112]	Chr2:172669829..172671732 [GRCh37] Chr2:2q31.1	pathogenic
NM_003705.5(SLC25A12):c.1705C>T (p.Arg569Trp)	single nucleotide variant	not provided [RCV001962256]	Chr2:171787828 [GRCh38] Chr2:172644338 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.650C>G (p.Ser217Cys)	single nucleotide variant	not provided [RCV001887085]	Chr2:171834828 [GRCh38] Chr2:172691338 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.947G>C (p.Gly316Ala)	single nucleotide variant	not provided [RCV001884000]	Chr2:171815186 [GRCh38] Chr2:172671696 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1445A>G (p.Lys482Arg)	single nucleotide variant	not provided [RCV001901505]	Chr2:171793628 [GRCh38] Chr2:172650138 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1415T>C (p.Leu472Pro)	single nucleotide variant	not provided [RCV001903756]	Chr2:171793658 [GRCh38] Chr2:172650168 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1716G>T (p.Gly572=)	single nucleotide variant	not provided [RCV002031091]	Chr2:171787817 [GRCh38] Chr2:172644327 [GRCh37] Chr2:2q31.1	likely benign\|uncertain significance
NM_003705.5(SLC25A12):c.420C>A (p.Asn140Lys)	single nucleotide variant	not provided [RCV001951976]	Chr2:171844414 [GRCh38] Chr2:172700924 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.50_52del (p.Arg17del)	deletion	not provided [RCV002015144]	Chr2:171893219..171893221 [GRCh38] Chr2:172749729..172749731 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.549T>G (p.Ser183Arg)	single nucleotide variant	not provided [RCV001877992]	Chr2:171837184 [GRCh38] Chr2:172693694 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.845+1del	deletion	not provided [RCV001936052]	Chr2:171833962 [GRCh38] Chr2:172690472 [GRCh37] Chr2:2q31.1	pathogenic
NM_003705.5(SLC25A12):c.188T>C (p.Val63Ala)	single nucleotide variant	not provided [RCV001990614]	Chr2:171868702 [GRCh38] Chr2:172725212 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.870G>C (p.Glu290Asp)	single nucleotide variant	Developmental and epileptic encephalopathy, 39 [RCV002471252]\|not provided [RCV002031879]	Chr2:171826858 [GRCh38] Chr2:172683368 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1754T>C (p.Phe585Ser)	single nucleotide variant	not provided [RCV001977799]	Chr2:171787652 [GRCh38] Chr2:172644162 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.401G>A (p.Arg134Gln)	single nucleotide variant	not provided [RCV001897677]	Chr2:171844433 [GRCh38] Chr2:172700943 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1178T>C (p.Ile393Thr)	single nucleotide variant	not provided [RCV001991222]	Chr2:171810270 [GRCh38] Chr2:172666780 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1172-11C>G	single nucleotide variant	not provided [RCV001878963]	Chr2:171810287 [GRCh38] Chr2:172666797 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.*1050G>A	single nucleotide variant	Hypomyelination, global cerebral [RCV000403484]	Chr2:171784224 [GRCh38] Chr2:172640734 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1418G>A (p.Arg473Gln)	single nucleotide variant	not provided [RCV000676741]	Chr2:171793655 [GRCh38] Chr2:172650165 [GRCh37] Chr2:2q31.1	benign\|uncertain significance
NM_003705.5(SLC25A12):c.1934C>T (p.Thr645Met)	single nucleotide variant	not provided [RCV001906530]	Chr2:171785377 [GRCh38] Chr2:172641887 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.4(SLC25A12):c.-67_-66GC[7]	microsatellite	Developmental and epileptic encephalopathy, 39 [RCV000364945]	Chr2:171894269..171894270 [GRCh38] Chr2:172750779..172750780 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.*1161T>C	single nucleotide variant	Hypomyelination, global cerebral [RCV000344563]	Chr2:171784113 [GRCh38] Chr2:172640623 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.13G>A (p.Val5Met)	single nucleotide variant	Developmental and epileptic encephalopathy, 39 [RCV000368279]	Chr2:171893258 [GRCh38] Chr2:172749768 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.4(SLC25A12):c.-55C>T	single nucleotide variant	Hypomyelination, global cerebral [RCV000328883]	Chr2:171894269 [GRCh38] Chr2:172750779 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1546G>A (p.Val516Met)	single nucleotide variant	not provided [RCV000730236]	Chr2:171791490 [GRCh38] Chr2:172648000 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.2015del (p.Ala672fs)	deletion	Developmental and epileptic encephalopathy, 39 [RCV004799209]\|Inborn genetic diseases [RCV004022602]\|not provided [RCV000462144]	Chr2:171785296 [GRCh38] Chr2:172641806 [GRCh37] Chr2:2q31.1	pathogenic\|likely benign\|uncertain significance
NM_003705.5(SLC25A12):c.1794T>C (p.Tyr598=)	single nucleotide variant	SLC25A12-related disorder [RCV003932733]\|not provided [RCV000466377]	Chr2:171787612 [GRCh38] Chr2:172644122 [GRCh37] Chr2:2q31.1	benign
NM_003705.5(SLC25A12):c.1777G>A (p.Val593Ile)	single nucleotide variant	not provided [RCV001363415]	Chr2:171787629 [GRCh38] Chr2:172644139 [GRCh37] Chr2:2q31.1	uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	copy number gain	See cases [RCV000512056]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	copy number gain	See cases [RCV000511212]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_003705.5(SLC25A12):c.1654G>A (p.Ala552Thr)	single nucleotide variant	Developmental and epileptic encephalopathy, 39 [RCV000765536]\|SLC25A12-related disorder [RCV003892509]\|not provided [RCV000658888]	Chr2:171787879 [GRCh38] Chr2:172644389 [GRCh37] Chr2:2q31.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_003705.5(SLC25A12):c.526A>G (p.Met176Val)	single nucleotide variant	not provided [RCV000676748]	Chr2:171837207 [GRCh38] Chr2:172693717 [GRCh37] Chr2:2q31.1	uncertain significance
GRCh37/hg19 2q31.1(chr2:171667051-176832848)x3	copy number gain	not provided [RCV000682159]	Chr2:171667051..176832848 [GRCh37] Chr2:2q31.1	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3	copy number gain	not provided [RCV000752802]	Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2q31.1(chr2:172626552-172704291)x3	copy number gain	not provided [RCV000740700]	Chr2:172626552..172704291 [GRCh37] Chr2:2q31.1	benign
NM_003705.5(SLC25A12):c.1749A>C (p.Arg583=)	single nucleotide variant	not provided [RCV000979790]	Chr2:171787657 [GRCh38] Chr2:172644167 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1013-4G>A	single nucleotide variant	not provided [RCV000870391]	Chr2:171813501 [GRCh38] Chr2:172670011 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.12+7C>G	single nucleotide variant	SLC25A12-related disorder [RCV003965666]\|not provided [RCV000863228]	Chr2:171894196 [GRCh38] Chr2:172750706 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1756C>A (p.Arg586=)	single nucleotide variant	SLC25A12-related disorder [RCV003965671]\|not provided [RCV000863718]	Chr2:171787650 [GRCh38] Chr2:172644160 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1035T>C (p.Tyr345=)	single nucleotide variant	SLC25A12-related disorder [RCV003975408]\|not provided [RCV000866345]	Chr2:171813475 [GRCh38] Chr2:172669985 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1306-3C>T	single nucleotide variant	not provided [RCV001039586]	Chr2:171793770 [GRCh38] Chr2:172650280 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.269T>C (p.Met90Thr)	single nucleotide variant	not provided [RCV000801910]	Chr2:171855890 [GRCh38] Chr2:172712400 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.995T>G (p.Leu332Arg)	single nucleotide variant	not provided [RCV000997307]	Chr2:171815138 [GRCh38] Chr2:172671648 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1368A>T (p.Val456=)	single nucleotide variant	not provided [RCV000975957]	Chr2:171793705 [GRCh38] Chr2:172650215 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.169G>A (p.Val57Met)	single nucleotide variant	not provided [RCV001055746]	Chr2:171868721 [GRCh38] Chr2:172725231 [GRCh37] Chr2:2q31.1	uncertain significance
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	copy number gain	not provided [RCV001005349]	Chr2:163233162..211927188 [GRCh37] Chr2:2q24.2-34	pathogenic
NM_003705.5(SLC25A12):c.1492T>C (p.Tyr498His)	single nucleotide variant	not provided [RCV001213934]	Chr2:171791544 [GRCh38] Chr2:172648054 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.288GTT[1] (p.Leu97del)	microsatellite	not provided [RCV000997308]	Chr2:171855866..171855868 [GRCh38] Chr2:172712376..172712378 [GRCh37] Chr2:2q31.1	uncertain significance
GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	copy number loss	2q24 microdeletion syndrome [RCV001263223]	Chr2:163078055..182119617 [GRCh37] Chr2:2q24.2-31.3	pathogenic
NM_003705.5(SLC25A12):c.848G>A (p.Arg283His)	single nucleotide variant	not provided [RCV001062671]	Chr2:171826880 [GRCh38] Chr2:172683390 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.325G>A (p.Glu109Lys)	single nucleotide variant	Developmental and epileptic encephalopathy, 39 [RCV001174539]	Chr2:171855834 [GRCh38] Chr2:172712344 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.893G>A (p.Gly298Glu)	single nucleotide variant	not provided [RCV001065209]	Chr2:171826835 [GRCh38] Chr2:172683345 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.706T>C (p.Tyr236His)	single nucleotide variant	not provided [RCV001038107]	Chr2:171834772 [GRCh38] Chr2:172691282 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.540G>A (p.Leu180=)	single nucleotide variant	not provided [RCV001066417]	Chr2:171837193 [GRCh38] Chr2:172693703 [GRCh37] Chr2:2q31.1	likely benign\|uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	copy number gain	Mosaic trisomy 2 [RCV002280628]	Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_003705.5(SLC25A12):c.225del (p.Glu76fs)	deletion	Developmental and epileptic encephalopathy, 39 [RCV001262596]	Chr2:171855934 [GRCh38] Chr2:172712444 [GRCh37] Chr2:2q31.1	likely pathogenic
NM_003705.5(SLC25A12):c.1717C>T (p.Pro573Ser)	single nucleotide variant	not provided [RCV001316445]	Chr2:171787816 [GRCh38] Chr2:172644326 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1700T>C (p.Ile567Thr)	single nucleotide variant	not provided [RCV001349694]	Chr2:171787833 [GRCh38] Chr2:172644343 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1557A>T (p.Leu519Phe)	single nucleotide variant	not provided [RCV001370067]	Chr2:171791479 [GRCh38] Chr2:172647989 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1745-4T>C	single nucleotide variant	Inborn genetic diseases [RCV002552669]\|not provided [RCV001394822]	Chr2:171787665 [GRCh38] Chr2:172644175 [GRCh37] Chr2:2q31.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_003705.5(SLC25A12):c.775C>T (p.Arg259Cys)	single nucleotide variant	Inborn genetic diseases [RCV002543659]\|not provided [RCV001315019]	Chr2:171834033 [GRCh38] Chr2:172690543 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.144T>C (p.Asn48=)	single nucleotide variant	not provided [RCV001405419]	Chr2:171868746 [GRCh38] Chr2:172725256 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.67-10A>T	single nucleotide variant	not provided [RCV001469179]	Chr2:171868833 [GRCh38] Chr2:172725343 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.732A>G (p.Lys244=)	single nucleotide variant	not provided [RCV001505257]	Chr2:171834746 [GRCh38] Chr2:172691256 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1188T>C (p.Leu396=)	single nucleotide variant	not provided [RCV001443241]	Chr2:171810260 [GRCh38] Chr2:172666770 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1737G>A (p.Gly579=)	single nucleotide variant	not provided [RCV001499115]	Chr2:171787796 [GRCh38] Chr2:172644306 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1176G>A (p.Leu392=)	single nucleotide variant	not provided [RCV001417403]	Chr2:171810272 [GRCh38] Chr2:172666782 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.792A>G (p.Thr264=)	single nucleotide variant	not provided [RCV001505093]	Chr2:171834016 [GRCh38] Chr2:172690526 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1692C>T (p.Phe564=)	single nucleotide variant	not provided [RCV001425338]	Chr2:171787841 [GRCh38] Chr2:172644351 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.492A>G (p.Gln164=)	single nucleotide variant	not provided [RCV001503994]	Chr2:171837241 [GRCh38] Chr2:172693751 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.210-21A>G	single nucleotide variant	Developmental and epileptic encephalopathy, 39 [RCV001807620]\|not provided [RCV002541455]	Chr2:171855970 [GRCh38] Chr2:172712480 [GRCh37] Chr2:2q31.1	benign
NM_003705.5(SLC25A12):c.1616C>T (p.Ala539Val)	single nucleotide variant	not provided [RCV001892837]	Chr2:171787917 [GRCh38] Chr2:172644427 [GRCh37] Chr2:2q31.1	uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	copy number gain	not specified [RCV002053265]	Chr2:169829974..215521436 [GRCh37] Chr2:2q31.1-35	pathogenic
NM_003705.5(SLC25A12):c.1808G>A (p.Arg603Gln)	single nucleotide variant	not provided [RCV001967178]	Chr2:171787598 [GRCh38] Chr2:172644108 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1283C>G (p.Ala428Gly)	single nucleotide variant	not provided [RCV002000772]	Chr2:171809628 [GRCh38] Chr2:172666138 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1935_2030del (p.Phe646_Thr677del)	deletion	not provided [RCV002038082]	Chr2:171785281..171785376 [GRCh38] Chr2:172641791..172641886 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.548G>C (p.Ser183Thr)	single nucleotide variant	not provided [RCV001887245]	Chr2:171837185 [GRCh38] Chr2:172693695 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.57_58del (p.Phe20fs)	microsatellite	not provided [RCV001962947]	Chr2:171893213..171893214 [GRCh38] Chr2:172749723..172749724 [GRCh37] Chr2:2q31.1	pathogenic\|likely pathogenic
NM_003705.5(SLC25A12):c.139T>C (p.Tyr47His)	single nucleotide variant	not provided [RCV001884823]	Chr2:171868751 [GRCh38] Chr2:172725261 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1089T>A (p.Val363=)	single nucleotide variant	not provided [RCV001998624]	Chr2:171813421 [GRCh38] Chr2:172669931 [GRCh37] Chr2:2q31.1	likely benign\|uncertain significance
NM_003705.5(SLC25A12):c.209+3A>G	single nucleotide variant	not provided [RCV001920741]	Chr2:171868678 [GRCh38] Chr2:172725188 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.671C>T (p.Ser224Leu)	single nucleotide variant	not provided [RCV001980179]	Chr2:171834807 [GRCh38] Chr2:172691317 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.845+13A>G	single nucleotide variant	not provided [RCV001952593]	Chr2:171833950 [GRCh38] Chr2:172690460 [GRCh37] Chr2:2q31.1	likely benign\|uncertain significance
NM_003705.5(SLC25A12):c.1979T>A (p.Phe660Tyr)	single nucleotide variant	not provided [RCV002019265]	Chr2:171785332 [GRCh38] Chr2:172641842 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1469G>A (p.Arg490Gln)	single nucleotide variant	Developmental and epileptic encephalopathy, 39 [RCV002259409]\|not provided [RCV002017527]	Chr2:171791567 [GRCh38] Chr2:172648077 [GRCh37] Chr2:2q31.1	uncertain significance
NC_000002.11:g.(?_172641784)_(172644477_?)dup	duplication	not provided [RCV001940181]	Chr2:172641784..172644477 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.335A>C (p.Lys112Thr)	single nucleotide variant	not provided [RCV001988985]	Chr2:171844499 [GRCh38] Chr2:172701009 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.272T>C (p.Phe91Ser)	single nucleotide variant	not provided [RCV001897107]	Chr2:171855887 [GRCh38] Chr2:172712397 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.466-13A>G	single nucleotide variant	not provided [RCV001919555]	Chr2:171837280 [GRCh38] Chr2:172693790 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1566T>A (p.Leu522=)	single nucleotide variant	not provided [RCV001880473]	Chr2:171791470 [GRCh38] Chr2:172647980 [GRCh37] Chr2:2q31.1	likely benign\|uncertain significance
NM_003705.5(SLC25A12):c.124C>T (p.Arg42Cys)	single nucleotide variant	not provided [RCV001916162]	Chr2:171868766 [GRCh38] Chr2:172725276 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.958T>A (p.Trp320Arg)	single nucleotide variant	not provided [RCV002012735]	Chr2:171815175 [GRCh38] Chr2:172671685 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1171+3_1171+6del	deletion	not provided [RCV001996484]	Chr2:171813333..171813336 [GRCh38] Chr2:172669843..172669846 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.12+7C>T	single nucleotide variant	not provided [RCV002110404]	Chr2:171894196 [GRCh38] Chr2:172750706 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1923C>T (p.Leu641=)	single nucleotide variant	SLC25A12-related disorder [RCV003923720]\|not provided [RCV002109951]	Chr2:171785388 [GRCh38] Chr2:172641898 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1013-13G>T	single nucleotide variant	not provided [RCV002091417]	Chr2:171813510 [GRCh38] Chr2:172670020 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1305+11C>T	single nucleotide variant	not provided [RCV002165645]	Chr2:171809595 [GRCh38] Chr2:172666105 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.751+17T>C	single nucleotide variant	not provided [RCV002125853]	Chr2:171834710 [GRCh38] Chr2:172691220 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.751+20A>G	single nucleotide variant	not provided [RCV002129748]	Chr2:171834707 [GRCh38] Chr2:172691217 [GRCh37] Chr2:2q31.1	benign
NM_003705.5(SLC25A12):c.465+15C>T	single nucleotide variant	not provided [RCV002192074]	Chr2:171844354 [GRCh38] Chr2:172700864 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.465+20C>G	single nucleotide variant	not provided [RCV002206122]	Chr2:171844349 [GRCh38] Chr2:172700859 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.672G>A (p.Ser224=)	single nucleotide variant	not provided [RCV002086143]	Chr2:171834806 [GRCh38] Chr2:172691316 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.931-20A>C	single nucleotide variant	not provided [RCV002168534]	Chr2:171815222 [GRCh38] Chr2:172671732 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.210-20C>T	single nucleotide variant	not provided [RCV002109490]	Chr2:171855969 [GRCh38] Chr2:172712479 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.894G>A (p.Gly298=)	single nucleotide variant	not provided [RCV002187763]	Chr2:171826834 [GRCh38] Chr2:172683344 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.33G>C (p.Gly11=)	single nucleotide variant	not provided [RCV002088286]	Chr2:171893238 [GRCh38] Chr2:172749748 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.159C>T (p.Asn53=)	single nucleotide variant	not provided [RCV002079588]	Chr2:171868731 [GRCh38] Chr2:172725241 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.66+8G>A	single nucleotide variant	not provided [RCV002172499]	Chr2:171893197 [GRCh38] Chr2:172749707 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.942G>T (p.Gly314=)	single nucleotide variant	not provided [RCV002116533]	Chr2:171815191 [GRCh38] Chr2:172671701 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.465+18_465+19del	deletion	not provided [RCV002211833]	Chr2:171844350..171844351 [GRCh38] Chr2:172700860..172700861 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1998T>C (p.Ala666=)	single nucleotide variant	not provided [RCV002144779]	Chr2:171785313 [GRCh38] Chr2:172641823 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1446+19T>C	single nucleotide variant	not provided [RCV002212504]	Chr2:171793608 [GRCh38] Chr2:172650118 [GRCh37] Chr2:2q31.1	benign
NM_003705.5(SLC25A12):c.846-15A>G	single nucleotide variant	not provided [RCV002113389]	Chr2:171826897 [GRCh38] Chr2:172683407 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.466-20T>C	single nucleotide variant	not provided [RCV002210889]	Chr2:171837287 [GRCh38] Chr2:172693797 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.752-17T>C	single nucleotide variant	not provided [RCV002116979]	Chr2:171834073 [GRCh38] Chr2:172690583 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.12+10A>G	single nucleotide variant	not provided [RCV002215094]	Chr2:171894193 [GRCh38] Chr2:172750703 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.931-17C>T	single nucleotide variant	not provided [RCV002213354]	Chr2:171815219 [GRCh38] Chr2:172671729 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.845+8T>G	single nucleotide variant	not provided [RCV002212765]	Chr2:171833955 [GRCh38] Chr2:172690465 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.752-12del	deletion	not provided [RCV002093149]	Chr2:171834068 [GRCh38] Chr2:172690578 [GRCh37] Chr2:2q31.1	benign
NM_003705.5(SLC25A12):c.12+11C>T	single nucleotide variant	not provided [RCV002087733]	Chr2:171894192 [GRCh38] Chr2:172750702 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1172-10C>T	single nucleotide variant	not provided [RCV002178662]	Chr2:171810286 [GRCh38] Chr2:172666796 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1305+20G>A	single nucleotide variant	not provided [RCV002083415]	Chr2:171809586 [GRCh38] Chr2:172666096 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.405G>A (p.Leu135=)	single nucleotide variant	not provided [RCV002181172]	Chr2:171844429 [GRCh38] Chr2:172700939 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.751+18A>G	single nucleotide variant	not provided [RCV002120155]	Chr2:171834709 [GRCh38] Chr2:172691219 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1172-39_1172-20del	deletion	not provided [RCV002220097]	Chr2:171810296..171810315 [GRCh38] Chr2:172666806..172666825 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1225-17G>A	single nucleotide variant	not provided [RCV002141519]	Chr2:171809703 [GRCh38] Chr2:172666213 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1446+20A>G	single nucleotide variant	not provided [RCV002120319]	Chr2:171793607 [GRCh38] Chr2:172650117 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.613-17G>A	single nucleotide variant	not provided [RCV002164243]	Chr2:171834882 [GRCh38] Chr2:172691392 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.13-16del	deletion	not provided [RCV002142444]	Chr2:171893274 [GRCh38] Chr2:172749784 [GRCh37] Chr2:2q31.1	benign
NM_003705.5(SLC25A12):c.613-10C>A	single nucleotide variant	not provided [RCV002102069]	Chr2:171834875 [GRCh38] Chr2:172691385 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.204G>A (p.Lys68=)	single nucleotide variant	not provided [RCV002135830]	Chr2:171868686 [GRCh38] Chr2:172725196 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.171G>A (p.Val57=)	single nucleotide variant	not provided [RCV002143024]	Chr2:171868719 [GRCh38] Chr2:172725229 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.325+11A>T	single nucleotide variant	not provided [RCV002120620]	Chr2:171855823 [GRCh38] Chr2:172712333 [GRCh37] Chr2:2q31.1	benign
NM_003705.5(SLC25A12):c.612+11A>G	single nucleotide variant	not provided [RCV002162288]	Chr2:171837110 [GRCh38] Chr2:172693620 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.513A>G (p.Lys171=)	single nucleotide variant	not provided [RCV002123117]	Chr2:171837220 [GRCh38] Chr2:172693730 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1585+20del	deletion	not provided [RCV002100283]	Chr2:171791431 [GRCh38] Chr2:172647941 [GRCh37] Chr2:2q31.1	benign
NM_003705.5(SLC25A12):c.1172-12C>T	single nucleotide variant	not provided [RCV002156754]	Chr2:171810288 [GRCh38] Chr2:172666798 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.752-14T>C	single nucleotide variant	not provided [RCV002178134]	Chr2:171834070 [GRCh38] Chr2:172690580 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1446+13A>C	single nucleotide variant	not provided [RCV002141705]	Chr2:171793614 [GRCh38] Chr2:172650124 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.735T>C (p.Asp245=)	single nucleotide variant	not provided [RCV002120866]	Chr2:171834743 [GRCh38] Chr2:172691253 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1225-16T>G	single nucleotide variant	not provided [RCV003110471]	Chr2:171809702 [GRCh38] Chr2:172666212 [GRCh37] Chr2:2q31.1	likely benign
NC_000002.11:g.(?_172725171)_(172725353_?)del	deletion	not provided [RCV003113316]	Chr2:172725171..172725353 [GRCh37] Chr2:2q31.1	pathogenic
NC_000002.11:g.(?_172669829)_(172750724_?)dup	duplication	not provided [RCV003113317]	Chr2:172669829..172750724 [GRCh37] Chr2:2q31.1	uncertain significance
NC_000002.11:g.(?_172749695)_(172750724_?)dup	duplication	not provided [RCV003113318]	Chr2:172749695..172750724 [GRCh37] Chr2:2q31.1	uncertain significance
NC_000002.11:g.(?_172641784)_(172712479_?)dup	duplication	not provided [RCV003113319]	Chr2:172641784..172712479 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1490T>A (p.Ile497Asn)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV002274449]	Chr2:171791546 [GRCh38] Chr2:172648056 [GRCh37] Chr2:2q31.1	likely pathogenic
NM_003705.5(SLC25A12):c.950G>A (p.Arg317Lys)	single nucleotide variant	not provided [RCV002304281]	Chr2:171815183 [GRCh38] Chr2:172671693 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1295C>T (p.Ala432Val)	single nucleotide variant	Developmental and epileptic encephalopathy, 39 [RCV002300681]	Chr2:171809616 [GRCh38] Chr2:172666126 [GRCh37] Chr2:2q31.1	pathogenic
NM_003705.5(SLC25A12):c.1763C>G (p.Ser588Cys)	single nucleotide variant	not provided [RCV002301309]	Chr2:171787643 [GRCh38] Chr2:172644153 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1367T>C (p.Val456Ala)	single nucleotide variant	not provided [RCV002303305]	Chr2:171793706 [GRCh38] Chr2:172650216 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1447-2_1447-1del	deletion	Developmental and epileptic encephalopathy, 39 [RCV002300682]	Chr2:171791590..171791591 [GRCh38] Chr2:172648100..172648101 [GRCh37] Chr2:2q31.1	pathogenic
NM_003705.5(SLC25A12):c.1915T>C (p.Tyr639His)	single nucleotide variant	not provided [RCV002686245]	Chr2:171785396 [GRCh38] Chr2:172641906 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1054A>G (p.Thr352Ala)	single nucleotide variant	not provided [RCV002991459]	Chr2:171813456 [GRCh38] Chr2:172669966 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1820T>C (p.Ile607Thr)	single nucleotide variant	not provided [RCV002615390]	Chr2:171787586 [GRCh38] Chr2:172644096 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.114C>T (p.Asp38=)	single nucleotide variant	not provided [RCV002615468]	Chr2:171868776 [GRCh38] Chr2:172725286 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.145G>A (p.Asp49Asn)	single nucleotide variant	not provided [RCV002842084]	Chr2:171868745 [GRCh38] Chr2:172725255 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1611C>G (p.Thr537=)	single nucleotide variant	not provided [RCV002842244]	Chr2:171787922 [GRCh38] Chr2:172644432 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.249_255del (p.Cys85fs)	deletion	Inborn genetic diseases [RCV002840476]	Chr2:171855904..171855910 [GRCh38] Chr2:172712414..172712420 [GRCh37] Chr2:2q31.1	pathogenic
NM_003705.5(SLC25A12):c.1511A>G (p.His504Arg)	single nucleotide variant	not provided [RCV002816179]	Chr2:171791525 [GRCh38] Chr2:172648035 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1457C>T (p.Ala486Val)	single nucleotide variant	not provided [RCV002730797]	Chr2:171791579 [GRCh38] Chr2:172648089 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1225-12C>A	single nucleotide variant	not provided [RCV002881433]	Chr2:171809698 [GRCh38] Chr2:172666208 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.66+9G>C	single nucleotide variant	not provided [RCV002819602]	Chr2:171893196 [GRCh38] Chr2:172749706 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1422C>T (p.Asp474=)	single nucleotide variant	not provided [RCV002690299]	Chr2:171793651 [GRCh38] Chr2:172650161 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1368A>G (p.Val456=)	single nucleotide variant	not provided [RCV002908087]	Chr2:171793705 [GRCh38] Chr2:172650215 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1749A>G (p.Arg583=)	single nucleotide variant	not provided [RCV003017076]	Chr2:171787657 [GRCh38] Chr2:172644167 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.325+5G>T	single nucleotide variant	not provided [RCV002816278]	Chr2:171855829 [GRCh38] Chr2:172712339 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1530T>G (p.Ala510=)	single nucleotide variant	not provided [RCV002858447]	Chr2:171791506 [GRCh38] Chr2:172648016 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.12+8dup	duplication	not provided [RCV002618039]	Chr2:171894194..171894195 [GRCh38] Chr2:172750704..172750705 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.941G>T (p.Gly314Val)	single nucleotide variant	not provided [RCV002593155]	Chr2:171815192 [GRCh38] Chr2:172671702 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1171+17C>T	single nucleotide variant	not provided [RCV002952610]	Chr2:171813322 [GRCh38] Chr2:172669832 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.12+10A>T	single nucleotide variant	not provided [RCV003021189]	Chr2:171894193 [GRCh38] Chr2:172750703 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.821T>C (p.Leu274Pro)	single nucleotide variant	not provided [RCV002825179]	Chr2:171833987 [GRCh38] Chr2:172690497 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1444A>G (p.Lys482Glu)	single nucleotide variant	not provided [RCV003036173]	Chr2:171793629 [GRCh38] Chr2:172650139 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.254G>A (p.Cys85Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002887760]	Chr2:171855905 [GRCh38] Chr2:172712415 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.320C>T (p.Thr107Ile)	single nucleotide variant	not provided [RCV002885493]	Chr2:171855839 [GRCh38] Chr2:172712349 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1580T>C (p.Met527Thr)	single nucleotide variant	Inborn genetic diseases [RCV002924964]	Chr2:171791456 [GRCh38] Chr2:172647966 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1306-17T>C	single nucleotide variant	not provided [RCV002926616]	Chr2:171793784 [GRCh38] Chr2:172650294 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1585+15T>A	single nucleotide variant	not provided [RCV002912460]	Chr2:171791436 [GRCh38] Chr2:172647946 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1130A>C (p.Lys377Thr)	single nucleotide variant	not provided [RCV002735584]	Chr2:171813380 [GRCh38] Chr2:172669890 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1485T>C (p.Ser495=)	single nucleotide variant	not provided [RCV003080251]	Chr2:171791551 [GRCh38] Chr2:172648061 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1744+11G>T	single nucleotide variant	not provided [RCV003055127]	Chr2:171787778 [GRCh38] Chr2:172644288 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1943G>A (p.Gly648Asp)	single nucleotide variant	not provided [RCV003038484]	Chr2:171785368 [GRCh38] Chr2:172641878 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.911T>C (p.Leu304Pro)	single nucleotide variant	not provided [RCV002824635]	Chr2:171826817 [GRCh38] Chr2:172683327 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1225-15T>C	single nucleotide variant	not provided [RCV002796021]	Chr2:171809701 [GRCh38] Chr2:172666211 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1225-5A>G	single nucleotide variant	not provided [RCV002886221]	Chr2:171809691 [GRCh38] Chr2:172666201 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1489A>G (p.Ile497Val)	single nucleotide variant	not provided [RCV003077717]	Chr2:171791547 [GRCh38] Chr2:172648057 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1585+11dup	duplication	not provided [RCV002662623]	Chr2:171791439..171791440 [GRCh38] Chr2:172647949..172647950 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.760G>T (p.Ala254Ser)	single nucleotide variant	not provided [RCV002735533]	Chr2:171834048 [GRCh38] Chr2:172690558 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1821T>G (p.Ile607Met)	single nucleotide variant	not provided [RCV002949678]	Chr2:171787585 [GRCh38] Chr2:172644095 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1365A>G (p.Gln455=)	single nucleotide variant	not provided [RCV002829507]	Chr2:171793708 [GRCh38] Chr2:172650218 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.221A>G (p.Tyr74Cys)	single nucleotide variant	not provided [RCV002801934]	Chr2:171855938 [GRCh38] Chr2:172712448 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.416A>G (p.His139Arg)	single nucleotide variant	not provided [RCV002623771]	Chr2:171844418 [GRCh38] Chr2:172700928 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.744C>T (p.Val248=)	single nucleotide variant	not provided [RCV003082792]	Chr2:171834734 [GRCh38] Chr2:172691244 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.845+16A>G	single nucleotide variant	not provided [RCV002894221]	Chr2:171833947 [GRCh38] Chr2:172690457 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.881dup (p.Leu295fs)	duplication	not provided [RCV003043541]	Chr2:171826846..171826847 [GRCh38] Chr2:172683356..172683357 [GRCh37] Chr2:2q31.1	pathogenic
NM_003705.5(SLC25A12):c.12+8C>T	single nucleotide variant	not provided [RCV002711209]	Chr2:171894195 [GRCh38] Chr2:172750705 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1224+18T>C	single nucleotide variant	not provided [RCV002626967]	Chr2:171810206 [GRCh38] Chr2:172666716 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1472A>G (p.Asp491Gly)	single nucleotide variant	not provided [RCV003042429]	Chr2:171791564 [GRCh38] Chr2:172648074 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1446+6T>G	single nucleotide variant	not provided [RCV002852953]	Chr2:171793621 [GRCh38] Chr2:172650131 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1481T>A (p.Phe494Tyr)	single nucleotide variant	not provided [RCV003028301]	Chr2:171791555 [GRCh38] Chr2:172648065 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.899T>C (p.Leu300Ser)	single nucleotide variant	Inborn genetic diseases [RCV002920558]	Chr2:171826829 [GRCh38] Chr2:172683339 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.210-19G>A	single nucleotide variant	not provided [RCV003029519]	Chr2:171855968 [GRCh38] Chr2:172712478 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.337G>C (p.Glu113Gln)	single nucleotide variant	not provided [RCV002577283]	Chr2:171844497 [GRCh38] Chr2:172701007 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.845+19C>A	single nucleotide variant	not provided [RCV002600121]	Chr2:171833944 [GRCh38] Chr2:172690454 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.325+6G>A	single nucleotide variant	not provided [RCV003061166]	Chr2:171855828 [GRCh38] Chr2:172712338 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1502T>C (p.Val501Ala)	single nucleotide variant	not provided [RCV002580921]	Chr2:171791534 [GRCh38] Chr2:172648044 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1247A>G (p.Lys416Arg)	single nucleotide variant	not provided [RCV003044434]	Chr2:171809664 [GRCh38] Chr2:172666174 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1545C>G (p.His515Gln)	single nucleotide variant	not provided [RCV003064642]	Chr2:171791491 [GRCh38] Chr2:172648001 [GRCh37] Chr2:2q31.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_003705.5(SLC25A12):c.1745-14C>T	single nucleotide variant	not provided [RCV002716672]	Chr2:171787675 [GRCh38] Chr2:172644185 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1651C>T (p.Arg551Cys)	single nucleotide variant	not provided [RCV002629970]	Chr2:171787882 [GRCh38] Chr2:172644392 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1744+5G>A	single nucleotide variant	not provided [RCV002937465]	Chr2:171787784 [GRCh38] Chr2:172644294 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1836-18C>T	single nucleotide variant	not provided [RCV002770595]	Chr2:171785493 [GRCh38] Chr2:172642003 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.585T>G (p.Thr195=)	single nucleotide variant	not provided [RCV002856601]	Chr2:171837148 [GRCh38] Chr2:172693658 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1871G>A (p.Arg624His)	single nucleotide variant	not provided [RCV002633184]	Chr2:171785440 [GRCh38] Chr2:172641950 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.326-19T>G	single nucleotide variant	not provided [RCV002633683]	Chr2:171844527 [GRCh38] Chr2:172701037 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1057C>T (p.Arg353Ter)	single nucleotide variant	not provided [RCV003067786]	Chr2:171813453 [GRCh38] Chr2:172669963 [GRCh37] Chr2:2q31.1	pathogenic
NM_003705.5(SLC25A12):c.1045C>G (p.Leu349Val)	single nucleotide variant	not provided [RCV002605308]	Chr2:171813465 [GRCh38] Chr2:172669975 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.471G>A (p.Leu157=)	single nucleotide variant	not provided [RCV002583310]	Chr2:171837262 [GRCh38] Chr2:172693772 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1193G>T (p.Gly398Val)	single nucleotide variant	not provided [RCV002654902]	Chr2:171810255 [GRCh38] Chr2:172666765 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.210-21_210-20inv	inversion	not provided [RCV003068608]	Chr2:171855969..171855970 [GRCh38] Chr2:172712479..172712480 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.271T>G (p.Phe91Val)	single nucleotide variant	not provided [RCV003067190]	Chr2:171855888 [GRCh38] Chr2:172712398 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.268A>G (p.Met90Val)	single nucleotide variant	not provided [RCV002725653]	Chr2:171855891 [GRCh38] Chr2:172712401 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1334A>G (p.Asn445Ser)	single nucleotide variant	not provided [RCV002610491]	Chr2:171793739 [GRCh38] Chr2:172650249 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1684G>A (p.Asp562Asn)	single nucleotide variant	not provided [RCV003092294]	Chr2:171787849 [GRCh38] Chr2:172644359 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1320G>A (p.Gln440=)	single nucleotide variant	not provided [RCV003223055]	Chr2:171793753 [GRCh38] Chr2:172650263 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1224+8T>C	single nucleotide variant	not provided [RCV003874336]	Chr2:171810216 [GRCh38] Chr2:172666726 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1370C>G (p.Ala457Gly)	single nucleotide variant	not provided [RCV003429375]	Chr2:171793703 [GRCh38] Chr2:172650213 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.321A>G (p.Thr107=)	single nucleotide variant	not provided [RCV003693303]	Chr2:171855838 [GRCh38] Chr2:172712348 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.984C>T (p.Tyr328=)	single nucleotide variant	not provided [RCV003545768]	Chr2:171815149 [GRCh38] Chr2:172671659 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1586-11del	deletion	not provided [RCV003547425]	Chr2:171787958 [GRCh38] Chr2:172644468 [GRCh37] Chr2:2q31.1	benign
NM_003705.5(SLC25A12):c.130C>T (p.Leu44Phe)	single nucleotide variant	not provided [RCV003573838]	Chr2:171868760 [GRCh38] Chr2:172725270 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.13-1_13del	deletion	not provided [RCV003572797]	Chr2:171893258..171893259 [GRCh38] Chr2:172749768..172749769 [GRCh37] Chr2:2q31.1	likely pathogenic
NM_003705.5(SLC25A12):c.1645G>A (p.Ala549Thr)	single nucleotide variant	not provided [RCV003714133]	Chr2:171787888 [GRCh38] Chr2:172644398 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1586-15G>C	single nucleotide variant	not provided [RCV003546183]	Chr2:171787962 [GRCh38] Chr2:172644472 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.12+12T>A	single nucleotide variant	not provided [RCV003690118]	Chr2:171894191 [GRCh38] Chr2:172750701 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.883T>C (p.Leu295=)	single nucleotide variant	not provided [RCV003545538]	Chr2:171826845 [GRCh38] Chr2:172683355 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.13-9del	deletion	not provided [RCV003575225]	Chr2:171893267 [GRCh38] Chr2:172749777 [GRCh37] Chr2:2q31.1	benign
NM_003705.5(SLC25A12):c.66+13G>C	single nucleotide variant	not provided [RCV003577314]	Chr2:171893192 [GRCh38] Chr2:172749702 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1306-16T>A	single nucleotide variant	not provided [RCV003715410]	Chr2:171793783 [GRCh38] Chr2:172650293 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1744+14G>A	single nucleotide variant	not provided [RCV003667860]	Chr2:171787775 [GRCh38] Chr2:172644285 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.67-11T>A	single nucleotide variant	not provided [RCV003549608]	Chr2:171868834 [GRCh38] Chr2:172725344 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.931-19C>T	single nucleotide variant	not provided [RCV003856059]	Chr2:171815221 [GRCh38] Chr2:172671731 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1306-19T>C	single nucleotide variant	not provided [RCV003839488]	Chr2:171793786 [GRCh38] Chr2:172650296 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1860A>G (p.Thr620=)	single nucleotide variant	not provided [RCV003674171]	Chr2:171785451 [GRCh38] Chr2:172641961 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.252A>G (p.Leu84=)	single nucleotide variant	not provided [RCV003560284]	Chr2:171855907 [GRCh38] Chr2:172712417 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1047G>A (p.Leu349=)	single nucleotide variant	not provided [RCV003697274]	Chr2:171813463 [GRCh38] Chr2:172669973 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.67-17T>C	single nucleotide variant	not provided [RCV003559170]	Chr2:171868840 [GRCh38] Chr2:172725350 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1122C>T (p.Asp374=)	single nucleotide variant	not provided [RCV003733622]	Chr2:171813388 [GRCh38] Chr2:172669898 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.209+13A>G	single nucleotide variant	not provided [RCV003712209]	Chr2:171868668 [GRCh38] Chr2:172725178 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.325+17A>G	single nucleotide variant	not provided [RCV003567754]	Chr2:171855817 [GRCh38] Chr2:172712327 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1586-11dup	duplication	not provided [RCV003552822]	Chr2:171787957..171787958 [GRCh38] Chr2:172644467..172644468 [GRCh37] Chr2:2q31.1	benign
NM_003705.5(SLC25A12):c.78T>G (p.Thr26=)	single nucleotide variant	not provided [RCV003681539]	Chr2:171868812 [GRCh38] Chr2:172725322 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1306-12C>G	single nucleotide variant	not provided [RCV003670566]	Chr2:171793779 [GRCh38] Chr2:172650289 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.693T>C (p.Leu231=)	single nucleotide variant	not provided [RCV003555428]	Chr2:171834785 [GRCh38] Chr2:172691295 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.465+19A>G	single nucleotide variant	not provided [RCV003685158]	Chr2:171844350 [GRCh38] Chr2:172700860 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.67-10del	deletion	not provided [RCV003670624]	Chr2:171868833 [GRCh38] Chr2:172725343 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.13-16T>C	single nucleotide variant	not provided [RCV003733697]	Chr2:171893274 [GRCh38] Chr2:172749784 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.13-16dup	duplication	not provided [RCV003556969]	Chr2:171893273..171893274 [GRCh38] Chr2:172749783..172749784 [GRCh37] Chr2:2q31.1	benign
NM_003705.5(SLC25A12):c.325+12A>T	single nucleotide variant	not provided [RCV003568667]	Chr2:171855822 [GRCh38] Chr2:172712332 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.612+7A>G	single nucleotide variant	not provided [RCV003862514]	Chr2:171837114 [GRCh38] Chr2:172693624 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.504C>T (p.Leu168=)	single nucleotide variant	not provided [RCV003731006]	Chr2:171837229 [GRCh38] Chr2:172693739 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1447-5G>C	single nucleotide variant	not provided [RCV003566069]	Chr2:171791594 [GRCh38] Chr2:172648104 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.273C>T (p.Phe91=)	single nucleotide variant	not provided [RCV003678435]	Chr2:171855886 [GRCh38] Chr2:172712396 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1290T>G (p.Val430=)	single nucleotide variant	not provided [RCV003727606]	Chr2:171809621 [GRCh38] Chr2:172666131 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.*5A>G	single nucleotide variant	SLC25A12-related disorder [RCV003961563]	Chr2:171785269 [GRCh38] Chr2:172641779 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1903C>T (p.His635Tyr)	single nucleotide variant	Inborn genetic diseases [RCV004456400]	Chr2:171785408 [GRCh38] Chr2:172641918 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1896C>A (p.Asn632Lys)	single nucleotide variant	not provided [RCV002028720]	Chr2:171785415 [GRCh38] Chr2:172641925 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.998G>C (p.Gly333Ala)	single nucleotide variant	not provided [RCV001940596]	Chr2:171815135 [GRCh38] Chr2:172671645 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.882A>G (p.Pro294=)	single nucleotide variant	not provided [RCV002087205]	Chr2:171826846 [GRCh38] Chr2:172683356 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1693A>C (p.Arg565=)	single nucleotide variant	not provided [RCV002150297]	Chr2:171787840 [GRCh38] Chr2:172644350 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.930+10A>G	single nucleotide variant	not provided [RCV002164850]	Chr2:171826788 [GRCh38] Chr2:172683298 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.12+9A>G	single nucleotide variant	not provided [RCV002093394]	Chr2:171894194 [GRCh38] Chr2:172750704 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1338A>G (p.Pro446=)	single nucleotide variant	not provided [RCV002201626]	Chr2:171793735 [GRCh38] Chr2:172650245 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.453G>A (p.Thr151=)	single nucleotide variant	not provided [RCV002083412]	Chr2:171844381 [GRCh38] Chr2:172700891 [GRCh37] Chr2:2q31.1	benign
Single allele	deletion	Split hand-foot malformation 5 [RCV002264898]	Chr2:171524396..178694337 [GRCh37] Chr2:2q31.1-31.2	pathogenic
NM_003705.5(SLC25A12):c.1585+12T>C	single nucleotide variant	not provided [RCV002815375]	Chr2:171791439 [GRCh38] Chr2:172647949 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.752-14T>A	single nucleotide variant	not provided [RCV002842495]	Chr2:171834070 [GRCh38] Chr2:172690580 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1479C>T (p.Pro493=)	single nucleotide variant	not provided [RCV002952573]	Chr2:171791557 [GRCh38] Chr2:172648067 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1586-13T>C	single nucleotide variant	not provided [RCV002889878]	Chr2:171787960 [GRCh38] Chr2:172644470 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.66+12T>G	single nucleotide variant	not provided [RCV002846275]	Chr2:171893193 [GRCh38] Chr2:172749703 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1374A>G (p.Gly458=)	single nucleotide variant	not provided [RCV003035507]	Chr2:171793699 [GRCh38] Chr2:172650209 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.228G>A (p.Glu76=)	single nucleotide variant	not provided [RCV003023986]	Chr2:171855931 [GRCh38] Chr2:172712441 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.985A>C (p.Arg329=)	single nucleotide variant	not provided [RCV003023542]	Chr2:171815148 [GRCh38] Chr2:172671658 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1545C>T (p.His515=)	single nucleotide variant	not provided [RCV002917794]	Chr2:171791491 [GRCh38] Chr2:172648001 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.845+18T>A	single nucleotide variant	not provided [RCV003041223]	Chr2:171833945 [GRCh38] Chr2:172690455 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1714G>A (p.Gly572Arg)	single nucleotide variant	not provided [RCV002890326]	Chr2:171787819 [GRCh38] Chr2:172644329 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.6G>A (p.Ala2=)	single nucleotide variant	not provided [RCV003025885]	Chr2:171894209 [GRCh38] Chr2:172750719 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1908C>T (p.Ile636=)	single nucleotide variant	not provided [RCV003061171]	Chr2:171785403 [GRCh38] Chr2:172641913 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.846-11T>C	single nucleotide variant	not provided [RCV003060731]	Chr2:171826893 [GRCh38] Chr2:172683403 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.13-15dup	duplication	not provided [RCV003060093]	Chr2:171893272..171893273 [GRCh38] Chr2:172749782..172749783 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.254G>T (p.Cys85Phe)	single nucleotide variant	not provided [RCV002576606]	Chr2:171855905 [GRCh38] Chr2:172712415 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1350G>T (p.Val450=)	single nucleotide variant	not provided [RCV003044845]	Chr2:171793723 [GRCh38] Chr2:172650233 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1585+5C>T	single nucleotide variant	not provided [RCV002810237]	Chr2:171791446 [GRCh38] Chr2:172647956 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1585+11A>T	single nucleotide variant	not provided [RCV003065112]	Chr2:171791440 [GRCh38] Chr2:172647950 [GRCh37] Chr2:2q31.1	likely benign
GRCh38/hg38 2q31.1(chr2:171833866-171844606)x0	copy number loss	Developmental and epileptic encephalopathy, 39 [RCV003327635]	Chr2:171833866..171844606 [GRCh38] Chr2:2q31.1	pathogenic
NM_003705.5(SLC25A12):c.101T>A (p.Met34Lys)	single nucleotide variant	Developmental and epileptic encephalopathy, 39 [RCV003337908]	Chr2:171868789 [GRCh38] Chr2:172725299 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1859C>T (p.Thr620Ile)	single nucleotide variant	Inborn genetic diseases [RCV003346127]	Chr2:171785452 [GRCh38] Chr2:172641962 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1969C>T (p.Leu657Phe)	single nucleotide variant	not provided [RCV003543410]	Chr2:171785342 [GRCh38] Chr2:172641852 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1029dup (p.Val344fs)	duplication	not provided [RCV003686769]	Chr2:171813480..171813481 [GRCh38] Chr2:172669990..172669991 [GRCh37] Chr2:2q31.1	pathogenic
NM_003705.5(SLC25A12):c.67-14A>G	single nucleotide variant	not provided [RCV003739656]	Chr2:171868837 [GRCh38] Chr2:172725347 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1848_1849insG (p.Ser617fs)	insertion	not provided [RCV003663147]	Chr2:171785462..171785463 [GRCh38] Chr2:172641972..172641973 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.12+19T>C	single nucleotide variant	not provided [RCV003740048]	Chr2:171894184 [GRCh38] Chr2:172750694 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1447-20A>G	single nucleotide variant	not provided [RCV003738979]	Chr2:171791609 [GRCh38] Chr2:172648119 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1935G>A (p.Thr645=)	single nucleotide variant	not provided [RCV003546188]	Chr2:171785376 [GRCh38] Chr2:172641886 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.28C>T (p.Arg10Ter)	single nucleotide variant	not provided [RCV003716678]	Chr2:171893243 [GRCh38] Chr2:172749753 [GRCh37] Chr2:2q31.1	pathogenic
NM_003705.5(SLC25A12):c.1848T>G (p.Gly616=)	single nucleotide variant	not provided [RCV003663148]	Chr2:171785463 [GRCh38] Chr2:172641973 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1468C>A (p.Arg490=)	single nucleotide variant	not provided [RCV003561830]	Chr2:171791568 [GRCh38] Chr2:172648078 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1842C>T (p.Pro614=)	single nucleotide variant	not provided [RCV003726604]	Chr2:171785469 [GRCh38] Chr2:172641979 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1586-20A>G	single nucleotide variant	not provided [RCV003664457]	Chr2:171787967 [GRCh38] Chr2:172644477 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1512T>C (p.His504=)	single nucleotide variant	not provided [RCV003559659]	Chr2:171791524 [GRCh38] Chr2:172648034 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.931-16G>A	single nucleotide variant	not provided [RCV003555402]	Chr2:171815218 [GRCh38] Chr2:172671728 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1306-18_1306-17del	microsatellite	not provided [RCV003568407]	Chr2:171793784..171793785 [GRCh38] Chr2:172650294..172650295 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.931-16_931-15insC	insertion	not provided [RCV003684430]	Chr2:171815217..171815218 [GRCh38] Chr2:172671727..172671728 [GRCh37] Chr2:2q31.1	likely benign
GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	copy number loss	not specified [RCV003986346]	Chr2:162692199..174452488 [GRCh37] Chr2:2q24.2-31.1	pathogenic
NM_003705.5(SLC25A12):c.1977A>G (p.Lys659=)	single nucleotide variant	not provided [RCV003682020]	Chr2:171785334 [GRCh38] Chr2:172641844 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.613-19T>G	single nucleotide variant	not provided [RCV003842028]	Chr2:171834884 [GRCh38] Chr2:172691394 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1214T>C (p.Ile405Thr)	single nucleotide variant	Inborn genetic diseases [RCV004456399]	Chr2:171810234 [GRCh38] Chr2:172666744 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.776G>A (p.Arg259His)	single nucleotide variant	Inborn genetic diseases [RCV004456403]	Chr2:171834032 [GRCh38] Chr2:172690542 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.274_276del (p.Ile92del)	deletion	Developmental and epileptic encephalopathy, 39 [RCV004818988]	Chr2:171855883..171855885 [GRCh38] Chr2:172712393..172712395 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.693del (p.Val232fs)	deletion	Developmental and epileptic encephalopathy, 39 [RCV004702733]	Chr2:171834785 [GRCh38] Chr2:172691295 [GRCh37] Chr2:2q31.1	pathogenic
NM_003705.5(SLC25A12):c.632C>T (p.Ser211Leu)	single nucleotide variant	Inborn genetic diseases [RCV004971246]	Chr2:171834846 [GRCh38] Chr2:172691356 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.74G>A (p.Ser25Asn)	single nucleotide variant	Inborn genetic diseases [RCV004971247]	Chr2:171868816 [GRCh38] Chr2:172725326 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.2022G>T (p.Val674=)	single nucleotide variant	not provided [RCV005066407]	Chr2:171785289 [GRCh38] Chr2:172641799 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1586-23_1586-19del	microsatellite	not provided [RCV005147455]	Chr2:171787966..171787970 [GRCh38] Chr2:172644476..172644480 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.660T>C (p.Asn220=)	single nucleotide variant	not provided [RCV005171904]	Chr2:171834818 [GRCh38] Chr2:172691328 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1744+15G>A	single nucleotide variant	not provided [RCV005085171]	Chr2:171787774 [GRCh38] Chr2:172644284 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1194G>T (p.Gly398=)	single nucleotide variant	not provided [RCV005132498]	Chr2:171810254 [GRCh38] Chr2:172666764 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.177C>T (p.Leu59=)	single nucleotide variant	not provided [RCV005156404]	Chr2:171868713 [GRCh38] Chr2:172725223 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1230T>C (p.Asn410=)	single nucleotide variant	not provided [RCV005114316]	Chr2:171809681 [GRCh38] Chr2:172666191 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1835+17A>T	single nucleotide variant	not provided [RCV005202070]	Chr2:171787554 [GRCh38] Chr2:172644064 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.751+8T>G	single nucleotide variant	not provided [RCV005197740]	Chr2:171834719 [GRCh38] Chr2:172691229 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.325+15_325+17del	microsatellite	not provided [RCV005084043]	Chr2:171855817..171855819 [GRCh38] Chr2:172712327..172712329 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.414G>T (p.Gly138=)	single nucleotide variant	not provided [RCV005153745]	Chr2:171844420 [GRCh38] Chr2:172700930 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1269T>C (p.Ser423=)	single nucleotide variant	not provided [RCV005156503]	Chr2:171809642 [GRCh38] Chr2:172666152 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.13-18T>C	single nucleotide variant	not provided [RCV005160164]	Chr2:171893276 [GRCh38] Chr2:172749786 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.615A>T (p.Ala205=)	single nucleotide variant	not provided [RCV005193702]	Chr2:171834863 [GRCh38] Chr2:172691373 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1740T>A (p.Thr580=)	single nucleotide variant	not provided [RCV005132549]	Chr2:171787793 [GRCh38] Chr2:172644303 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.135A>C (p.Gly45=)	single nucleotide variant	not provided [RCV005078981]	Chr2:171868755 [GRCh38] Chr2:172725265 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.13-5T>A	single nucleotide variant	not provided [RCV005119702]	Chr2:171893263 [GRCh38] Chr2:172749773 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1053G>A (p.Lys351=)	single nucleotide variant	not provided [RCV005081170]	Chr2:171813457 [GRCh38] Chr2:172669967 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.846-9T>G	single nucleotide variant	not provided [RCV005083553]	Chr2:171826891 [GRCh38] Chr2:172683401 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.66+15A>G	single nucleotide variant	not provided [RCV005079501]	Chr2:171893190 [GRCh38] Chr2:172749700 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.210-14A>T	single nucleotide variant	not provided [RCV005079531]	Chr2:171855963 [GRCh38] Chr2:172712473 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.630C>T (p.Ile210=)	single nucleotide variant	not provided [RCV005191576]	Chr2:171834848 [GRCh38] Chr2:172691358 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.568A>C (p.Arg190=)	single nucleotide variant	not provided [RCV005183260]	Chr2:171837165 [GRCh38] Chr2:172693675 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.1225-7T>A	single nucleotide variant	not provided [RCV005130644]	Chr2:171809693 [GRCh38] Chr2:172666203 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.751+12A>C	single nucleotide variant	not provided [RCV005181403]	Chr2:171834715 [GRCh38] Chr2:172691225 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.210-12A>G	single nucleotide variant	not provided [RCV005203375]	Chr2:171855961 [GRCh38] Chr2:172712471 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.266C>T (p.Ser89Phe)	single nucleotide variant	not provided [RCV005114913]	Chr2:171855893 [GRCh38] Chr2:172712403 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1413G>C (p.Val471=)	single nucleotide variant	not provided [RCV005130346]	Chr2:171793660 [GRCh38] Chr2:172650170 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.846-6C>T	single nucleotide variant	not provided [RCV005156114]	Chr2:171826888 [GRCh38] Chr2:172683398 [GRCh37] Chr2:2q31.1	likely benign
NM_003705.5(SLC25A12):c.940G>T (p.Gly314Trp)	single nucleotide variant	Inborn genetic diseases [RCV004456404]	Chr2:171815193 [GRCh38] Chr2:172671703 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.4G>T (p.Ala2Ser)	single nucleotide variant	Inborn genetic diseases [RCV004456402]	Chr2:171894211 [GRCh38] Chr2:172750721 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.288G>T (p.Gln96His)	single nucleotide variant	Inborn genetic diseases [RCV004672295]	Chr2:171855871 [GRCh38] Chr2:172712381 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1342G>A (p.Glu448Lys)	single nucleotide variant	not provided [RCV004775800]	Chr2:171793731 [GRCh38] Chr2:172650241 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.147T>G (p.Asp49Glu)	single nucleotide variant	Inborn genetic diseases [RCV004957904]	Chr2:171868743 [GRCh38] Chr2:172725253 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1844C>T (p.Ala615Val)	single nucleotide variant	Inborn genetic diseases [RCV004957905]	Chr2:171785467 [GRCh38] Chr2:172641977 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.622G>A (p.Gly208Arg)	single nucleotide variant	Developmental and epileptic encephalopathy, 39 [RCV005208286]	Chr2:171834856 [GRCh38] Chr2:172691366 [GRCh37] Chr2:2q31.1	uncertain significance
NM_003705.5(SLC25A12):c.1636C>T (p.Leu546=)	single nucleotide variant	not provided [RCV005243001]	Chr2:171787897 [GRCh38] Chr2:172644407 [GRCh37] Chr2:2q31.1	likely benign

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	2629
Count of miRNA genes:	935
Interacting mature miRNAs:	1098
Transcripts:	ENST00000263812, ENST00000392592, ENST00000422440, ENST00000426896, ENST00000464063, ENST00000472070, ENST00000472748, ENST00000475360, ENST00000484227, ENST00000485880, ENST00000494892
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597309195	GWAS1405269_H	urinary uromodulin measurement QTL GWAS1405269 (human)		0.000002	urinary uromodulin measurement		2	171822834	171822835	Human
596989830	GWAS1109349_H	body mass index QTL GWAS1109349 (human)		2e-12	body mass index		2	171814584	171814585	Human
596973411	GWAS1092930_H	major depressive disorder QTL GWAS1092930 (human)		3e-08	major depressive disorder		2	171833670	171833671	Human
597061696	GWAS1157770_H	reaction time measurement QTL GWAS1157770 (human)		0.0000002	cognitive behavior trait (VT:0010450)		2	171875473	171875474	Human
597144733	GWAS1240807_H	self reported educational attainment QTL GWAS1240807 (human)		4e-08	self reported educational attainment		2	171875473	171875474	Human
597297318	GWAS1393392_H	body mass index QTL GWAS1393392 (human)		2e-12	body mass index	body mass index (BMI) (CMO:0000105)	2	171814584	171814585	Human
407038286	GWAS687262_H	unipolar depression QTL GWAS687262 (human)		3e-08	unipolar depression		2	171833670	171833671	Human
406971775	GWAS620751_H	sporadic amyotrophic lateral sclerosis QTL GWAS620751 (human)		0.000001	sporadic amyotrophic lateral sclerosis		2	171824168	171824169	Human
597185479	GWAS1281553_H	major depressive disorder QTL GWAS1281553 (human)		3e-08	major depressive disorder		2	171833670	171833671	Human
597614369	GWAS1671229_H	sodium measurement QTL GWAS1671229 (human)		4e-13	sodium measurement	blood sodium level (CMO:0000499)	2	171833755	171833756	Human

Markers in Region

D2S2381

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	172,658,390 - 172,658,618	UniSTS	GRCh37
Build 36	2	172,366,636 - 172,366,864	RGD	NCBI36
Celera	2	166,274,978 - 166,275,198	RGD
Cytogenetic Map	2	q24	UniSTS
HuRef	2	164,543,744 - 164,543,968	UniSTS
Marshfield Genetic Map	2	175.91	RGD
Marshfield Genetic Map	2	175.91	UniSTS
Genethon Genetic Map	2	182.5	UniSTS
TNG Radiation Hybrid Map	2	94675.0	UniSTS
Stanford-G3 RH Map	2	7078.0	UniSTS
GeneMap99-G3 RH Map	2	7933.0	UniSTS

G54269

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	172,641,205 - 172,641,430	UniSTS	GRCh37
Build 36	2	172,349,451 - 172,349,676	RGD	NCBI36
Celera	2	166,257,792 - 166,258,017	RGD
Cytogenetic Map	2	q24	UniSTS
HuRef	2	164,526,558 - 164,526,783	UniSTS

SHGC-145217

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	172,680,562 - 172,680,832	UniSTS	GRCh37
Build 36	2	172,388,808 - 172,389,078	RGD	NCBI36
Celera	2	166,297,057 - 166,297,327	RGD
Cytogenetic Map	2	q24	UniSTS
HuRef	2	164,565,813 - 164,566,083	UniSTS
TNG Radiation Hybrid Map	2	94683.0	UniSTS

SLC25A12_3281

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	172,641,103 - 172,641,970	UniSTS	GRCh37
Build 36	2	172,349,349 - 172,350,216	RGD	NCBI36
Celera	2	166,257,690 - 166,258,557	RGD
HuRef	2	164,526,456 - 164,527,323	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2435	2788	2249	4972	1725	2349	5	622	1949	464	2268	7295	6463	52	3734	851	1741	1616	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_011781	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_003705	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_047549	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011512070	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047446142	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054332874	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054344307	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC068039	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC277837	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ496568	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK022828	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK054941	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK091071	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK294638	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC016932	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471058	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068276	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DN993435	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF456736	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF456741	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Y14494	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000263812 ⟹ ENSP00000263812

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	171,784,775 - 171,894,223 (-)	Ensembl

Ensembl Acc Id:

ENST00000422440 ⟹ ENSP00000388658

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	171,783,405 - 171,894,244 (-)	Ensembl

Ensembl Acc Id:

ENST00000426896 ⟹ ENSP00000413968

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	171,834,031 - 171,894,244 (-)	Ensembl

Ensembl Acc Id:

ENST00000464063

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	171,855,927 - 171,999,859 (-)	Ensembl

Ensembl Acc Id:

ENST00000472070

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	171,784,832 - 171,788,942 (-)	Ensembl

Ensembl Acc Id:

ENST00000472748

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	171,844,369 - 171,999,855 (-)	Ensembl

Ensembl Acc Id:

ENST00000475360 ⟹ ENSP00000437845

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	171,837,149 - 171,893,258 (-)	Ensembl

Ensembl Acc Id:

ENST00000484227

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	171,855,801 - 171,999,792 (-)	Ensembl

Ensembl Acc Id:

ENST00000485880

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	171,815,109 - 171,834,335 (-)	Ensembl

Ensembl Acc Id:

ENST00000494892

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	171,809,425 - 171,810,280 (-)	Ensembl

RefSeq Acc Id:

NM_003705 ⟹ NP_003696

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	171,783,405 - 171,894,244 (-)	NCBI
GRCh37	2	172,639,915 - 172,750,816 (-)	NCBI
Build 36	2	172,349,126 - 172,458,979 (-)	NCBI Archive
HuRef	2	164,525,268 - 164,635,693 (-)	NCBI
CHM1_1	2	172,646,763 - 172,757,956 (-)	NCBI
T2T-CHM13v2.0	2	172,260,855 - 172,372,092 (-)	NCBI

Sequence:

show sequence

ACTCGCTCGTCCCCGGCTTCCGAGCACAGCATGGCGGTCAAGGTGCAGACAACTAAGCGAGGGG
ATCCTCATGAGTTAAGAAACATATTTCTACAGTATGCCAGTACTGAGGTTGATGGAGAGCGTTA
TATGACCCCAGAAGACTTTGTTCAGCGCTATCTTGGACTGTATAATGATCCAAATAGTAACCCA
AAGATCGTGCAGCTCTTGGCAGGAGTAGCTGATCAAACCAAGGATGGGTTGATCTCCTATCAAG
AGTTTTTGGCATTTGAATCTGTTTTATGTGCTCCAGATTCCATGTTCATAGTGGCTTTCCAGTT
GTTTGACAAGAGTGGAAATGGAGAGGTGACATTTGAAAATGTCAAAGAAATTTTTGGACAGACT
ATTATTCATCATCATATCCCTTTTAACTGGGATTGTGAATTTATCCGACTGCATTTTGGGCATA
ACCGGAAGAAGCATCTTAACTACACAGAATTCACGCAGTTTCTCCAGGAGCTGCAATTGGAACA
TGCAAGACAAGCCTTTGCACTCAAAGACAAAAGCAAAAGTGGCATGATTTCTGGTCTGGATTTC
AGTGACATCATGGTTACCATTAGATCTCACATGCTTACTCCTTTTGTGGAGGAGAACTTAGTTT
CAGCAGCTGGAGGAAGTATCTCACACCAGGTTAGCTTCTCCTACTTCAATGCATTTAACTCGTT
ACTGAATAACATGGAGCTTGTTCGTAAGATATATAGCACTCTAGCTGGCACAAGGAAAGATGTT
GAAGTCACAAAGGAGGAATTTGCCCAGAGTGCCATACGCTATGGACAAGTCACACCACTAGAAA
TTGATATTCTATATCAGCTTGCAGACTTATATAATGCTTCAGGGCGCTTGACTTTGGCAGATAT
TGAGAGAATAGCCCCATTGGCTGAGGGGGCCTTACCTTACAACCTGGCAGAACTTCAGAGACAG
CAGTCTCCTGGGTTAGGCAGGCCTATCTGGCTCCAGATTGCCGAGTCTGCTTACAGATTCACTC
TGGGCTCAGTTGCTGGAGCTGTGGGAGCCACTGCAGTGTATCCTATAGATCTGGTGAAGACCCG
AATGCAAAACCAGCGTGGCTCTGGCTCTGTTGTTGGGGAGCTAATGTACAAAAACAGCTTTGAC
TGTTTTAAGAAAGTCTTGCGTTATGAGGGCTTCTTTGGACTCTACAGGGGTCTGATACCACAAC
TTATAGGGGTTGCTCCAGAAAAGGCCATTAAACTGACTGTTAATGATTTTGTTCGGGACAAATT
TACCAGAAGAGATGGCTCTGTTCCACTTCCAGCAGAAGTTCTTGCTGGAGGCTGTGCTGGAGGC
TCTCAGGTCATTTTTACCAACCCATTGGAGATAGTGAAGATTCGTCTGCAAGTAGCTGGAGAGA
TCACCACGGGACCCAGAGTCAGCGCCCTGAATGTGCTCCGGGACTTGGGAATTTTTGGTCTGTA
TAAGGGTGCCAAAGCGTGTTTCCTCCGAGACATTCCCTTCTCTGCAATCTATTTTCCTGTTTAT
GCTCATTGCAAACTACTTCTGGCTGATGAAAATGGACACGTGGGAGGTTTAAATCTTCTTGCAG
CTGGAGCCATGGCAGGTGTCCCAGCTGCATCTCTGGTGACCCCTGCTGATGTCATCAAGACAAG
ACTGCAGGTGGCTGCCCGCGCTGGCCAGACGACATACAGTGGTGTCATCGACTGTTTCAGGAAG
ATTCTCCGGGAAGAAGGGCCCTCAGCATTTTGGAAAGGGACTGCAGCTCGAGTGTTTCGATCCT
CTCCCCAGTTTGGTGTTACCTTGGTCACTTATGAACTTCTCCAGCGGTGGTTTTACATTGATTT
TGGAGGCCTCAAACCCGCTGGTTCAGAACCAACACCTAAGTCACGCATTGCAGACCTTCCTCCT
GCCAACCCTGATCACATCGGTGGATACAGACTCGCCACAGCCACGTTTGCAGGCATCGAAAACA
AATTTGGCCTTTATCTCCCGAAATTTAAGTCTCCTAGTGTTGCTGTGGTTCAGCCAAAGGCAGC
AGTGGCAGCCACTCAGTGATGAGACAACTGTTGAGTGTGGCAAAATGGCGCCTTGAAGAAAGAG
GCCTAGGAGAGCAGCCCTGTAATGTATCCAGTCAGCTGCATGGTACTGACTGAGCTGAGGAGTC
AAACTCTTCTTTCTGTATGACATATACATATACTTGTTTATAAAATAATCATTTGCCCAGGGAA
AAAACCACAACGCTGTTTCAAGCTTTAGTCTTATGTGTTGAAATGTTTTTGTAAGCCTTGGCAT
GAATTAGTGTTCTAGACTCTGCTTTGCACAGCTTGCACTTACAGTGATTGTACATATTGTACAT
CTTTGTACAGAGACATCTTGGCACCTCATCCCAACAAATCACATTTGTAGAAATGTAATGCGGT
TCTGAGTGGCTTGAAATGTACAGAATGTTTTGAAAGTGTTTTATTAAGAATCACACAAAAATAA
ATGTATTAAAATTAAATTCATTCTCTTATTGGTGACTTATGGAAATAAAGCATCAATATTGGAT
GTATTTAATTCCTAGTTTGTTTTCCATTCTGGAATAAAAAGGTATTTGCTGATAAAAGGCATAA
CGAGACATAGTGCTGCTACCACTGAATAAGTGATACTTTGGAAAGATGCATGCCAGTGGATGCC
AGAGGACCAGGCTAATGACTTGTGTGTGCTGATGTGTTTCCATTTGTATTTAATGTGTGTAGAC
CCTCCTCTGTTCATCAATCAAAAAGCATTTCCTAGGCAGCTCCTCGCCTGTCAGTGTGCATATG
GAAACAGGGACATCTCCATCATTACTGGCTTAGTTTTGCTTTCCTTTGACACAGTAAGGCAAAG
GCCAAGCTTTCAAAAGAGTAAAGGATACTTTCACAATTTCCCTTCATATGGATATGATTCCAGT
CAAAAATAAAATGCACACCAAAATGTATACATGTAGTTGGATTTTTCTTTGTAAATATACTGAT
AATACTTTTTGTTCTGATTGACTACTGATTGCAAATAACTCATGATCGGGTTCGCCCTTTCTTC
CACCTTTATAGAAAACAGAAAAATTAGTTTTAGAAAGGGCTAGCGCAGAGTGAAGGGAGGGAAG
AAGAAAGAGAAGAAAAGCTCTATATGGTGATTTAGTGGGGTCTAGGTTCTTACTTTGGAATCCA
AATGCAAACTGTTCTAAAAGTCACTCATCAAGGGCGTGATTACTAATTTGGATCTAAACATAGA
TCTTGACAGCCACATCTACACTTTGATATGGATGTGATTTGATGTGCAGTATCAGAATTTATTT
ACCTTACCAAAGTGCTCTGGGAAGACATTATTGCTACTGCCAGTAAGCTGGGATATGAGAATGT
ATGCAAATATTTTCAAGAGGCGAGCCTGGAGACAGACCAAGTTACTTAGTATCCTGCACAGTGC
TCCTCGATTGATGGCTGACAGCCCTGTGACTGCAACTGTAGGCTCCCTGGAGGCCCTCCAGGAA
CAAAAGAATTAGCTTTGAAAGCAAGTTATTTTCAAATGTATTAGATTGGTCTCATGGGAGTGGA
ACAAATAATAATACAGTTGTTTTGCTACTACCACTTGTTAGAAATATATAAGTAGTCCATGGAT
ATGTGATTACAAAAGAATCCTATGTATGTATCTAGAGTGAGATGGGAAAGTGTCCCGCTTACCC
TCCTTCTACCTCCACCACTTCCTGGCCCAGAGGTAATCACTGCTAACAGGTTACAGCATGAATA
TGTAGTCTGTTTTTCATAACTCTATAGAAATATATGTACATATTTATATTTTAGAAACAGGATT
ATGTTATGTGTGTGTTATTCTGTGTCTTGCTTTTGTTCACTTAATGTGTTTTGGATATCTTTCC
ATGTCAGTTTATAAAGTTTTATTTTTAATGGC

hide sequence

RefSeq Acc Id:

NR_047549

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	171,783,405 - 171,894,244 (-)	NCBI
GRCh37	2	172,639,915 - 172,750,816 (-)	NCBI
HuRef	2	164,525,268 - 164,635,693 (-)	NCBI
CHM1_1	2	172,646,763 - 172,757,956 (-)	NCBI
T2T-CHM13v2.0	2	172,260,855 - 172,372,092 (-)	NCBI

Sequence:

show sequence

ACTCGCTCGTCCCCGGCTTCCGAGCACAGCATGGCGGTCAAGGTGCAGACAACTAAGCGAGGGG
ATCCTCATGAGTTAAGAAACATATTTCTACAGTATGCCAGTACTGAGGTTGATGGAGAGCGTTA
TATGACCCCAGAAGACTTTGTTCAGCGCTATCTTGGACTGTATAATGATCCAAATAGTAACCCA
AAGATCGTGCAGCTCTTGGCAGGAGTAGCTGATCAAACCAAGGATGGAAAATGTCAAAGAAATT
TTTGGACAGACTATTATTCATCATCATATCCCTTTTAACTGGGATTGTGAATTTATCCGACTGC
ATTTTGGGCATAACCGGAAGAAGCATCTTAACTACACAGAATTCACGCAGTTTCTCCAGGAGCT
GCAATTGGAACATGCAAGACAAGCCTTTGCACTCAAAGACAAAAGCAAAAGTGGCATGATTTCT
GGTCTGGATTTCAGTGACATCATGGTTACCATTAGATCTCACATGCTTACTCCTTTTGTGGAGG
AGAACTTAGTTTCAGCAGCTGGAGGAAGTATCTCACACCAGGTTAGCTTCTCCTACTTCAATGC
ATTTAACTCGTTACTGAATAACATGGAGCTTGTTCGTAAGATATATAGCACTCTAGCTGGCACA
AGGAAAGATGTTGAAGTCACAAAGGAGGAATTTGCCCAGAGTGCCATACGCTATGGACAAGTCA
CACCACTAGAAATTGATATTCTATATCAGCTTGCAGACTTATATAATGCTTCAGGGCGCTTGAC
TTTGGCAGATATTGAGAGAATAGCCCCATTGGCTGAGGGGGCCTTACCTTACAACCTGGCAGAA
CTTCAGAGACAGCAGTCTCCTGGGTTAGGCAGGCCTATCTGGCTCCAGATTGCCGAGTCTGCTT
ACAGATTCACTCTGGGCTCAGTTGCTGGAGCTGTGGGAGCCACTGCAGTGTATCCTATAGATCT
GGTGAAGACCCGAATGCAAAACCAGCGTGGCTCTGGCTCTGTTGTTGGGGAGCTAATGTACAAA
AACAGCTTTGACTGTTTTAAGAAAGTCTTGCGTTATGAGGGCTTCTTTGGACTCTACAGGGGTC
TGATACCACAACTTATAGGGGTTGCTCCAGAAAAGGCCATTAAACTGACTGTTAATGATTTTGT
TCGGGACAAATTTACCAGAAGAGATGGCTCTGTTCCACTTCCAGCAGAAGTTCTTGCTGGAGGC
TGTGCTGGAGGCTCTCAGGTCATTTTTACCAACCCATTGGAGATAGTGAAGATTCGTCTGCAAG
TAGCTGGAGAGATCACCACGGGACCCAGAGTCAGCGCCCTGAATGTGCTCCGGGACTTGGGAAT
TTTTGGTCTGTATAAGGGTGCCAAAGCGTGTTTCCTCCGAGACATTCCCTTCTCTGCAATCTAT
TTTCCTGTTTATGCTCATTGCAAACTACTTCTGGCTGATGAAAATGGACACGTGGGAGGTTTAA
ATCTTCTTGCAGCTGGAGCCATGGCAGGTGTCCCAGCTGCATCTCTGGTGACCCCTGCTGATGT
CATCAAGACAAGACTGCAGGTGGCTGCCCGCGCTGGCCAGACGACATACAGTGGTGTCATCGAC
TGTTTCAGGAAGATTCTCCGGGAAGAAGGGCCCTCAGCATTTTGGAAAGGGACTGCAGCTCGAG
TGTTTCGATCCTCTCCCCAGTTTGGTGTTACCTTGGTCACTTATGAACTTCTCCAGCGGTGGTT
TTACATTGATTTTGGAGGCCTCAAACCCGCTGGTTCAGAACCAACACCTAAGTCACGCATTGCA
GACCTTCCTCCTGCCAACCCTGATCACATCGGTGGATACAGACTCGCCACAGCCACGTTTGCAG
GCATCGAAAACAAATTTGGCCTTTATCTCCCGAAATTTAAGTCTCCTAGTGTTGCTGTGGTTCA
GCCAAAGGCAGCAGTGGCAGCCACTCAGTGATGAGACAACTGTTGAGTGTGGCAAAATGGCGCC
TTGAAGAAAGAGGCCTAGGAGAGCAGCCCTGTAATGTATCCAGTCAGCTGCATGGTACTGACTG
AGCTGAGGAGTCAAACTCTTCTTTCTGTATGACATATACATATACTTGTTTATAAAATAATCAT
TTGCCCAGGGAAAAAACCACAACGCTGTTTCAAGCTTTAGTCTTATGTGTTGAAATGTTTTTGT
AAGCCTTGGCATGAATTAGTGTTCTAGACTCTGCTTTGCACAGCTTGCACTTACAGTGATTGTA
CATATTGTACATCTTTGTACAGAGACATCTTGGCACCTCATCCCAACAAATCACATTTGTAGAA
ATGTAATGCGGTTCTGAGTGGCTTGAAATGTACAGAATGTTTTGAAAGTGTTTTATTAAGAATC
ACACAAAAATAAATGTATTAAAATTAAATTCATTCTCTTATTGGTGACTTATGGAAATAAAGCA
TCAATATTGGATGTATTTAATTCCTAGTTTGTTTTCCATTCTGGAATAAAAAGGTATTTGCTGA
TAAAAGGCATAACGAGACATAGTGCTGCTACCACTGAATAAGTGATACTTTGGAAAGATGCATG
CCAGTGGATGCCAGAGGACCAGGCTAATGACTTGTGTGTGCTGATGTGTTTCCATTTGTATTTA
ATGTGTGTAGACCCTCCTCTGTTCATCAATCAAAAAGCATTTCCTAGGCAGCTCCTCGCCTGTC
AGTGTGCATATGGAAACAGGGACATCTCCATCATTACTGGCTTAGTTTTGCTTTCCTTTGACAC
AGTAAGGCAAAGGCCAAGCTTTCAAAAGAGTAAAGGATACTTTCACAATTTCCCTTCATATGGA
TATGATTCCAGTCAAAAATAAAATGCACACCAAAATGTATACATGTAGTTGGATTTTTCTTTGT
AAATATACTGATAATACTTTTTGTTCTGATTGACTACTGATTGCAAATAACTCATGATCGGGTT
CGCCCTTTCTTCCACCTTTATAGAAAACAGAAAAATTAGTTTTAGAAAGGGCTAGCGCAGAGTG
AAGGGAGGGAAGAAGAAAGAGAAGAAAAGCTCTATATGGTGATTTAGTGGGGTCTAGGTTCTTA
CTTTGGAATCCAAATGCAAACTGTTCTAAAAGTCACTCATCAAGGGCGTGATTACTAATTTGGA
TCTAAACATAGATCTTGACAGCCACATCTACACTTTGATATGGATGTGATTTGATGTGCAGTAT
CAGAATTTATTTACCTTACCAAAGTGCTCTGGGAAGACATTATTGCTACTGCCAGTAAGCTGGG
ATATGAGAATGTATGCAAATATTTTCAAGAGGCGAGCCTGGAGACAGACCAAGTTACTTAGTAT
CCTGCACAGTGCTCCTCGATTGATGGCTGACAGCCCTGTGACTGCAACTGTAGGCTCCCTGGAG
GCCCTCCAGGAACAAAAGAATTAGCTTTGAAAGCAAGTTATTTTCAAATGTATTAGATTGGTCT
CATGGGAGTGGAACAAATAATAATACAGTTGTTTTGCTACTACCACTTGTTAGAAATATATAAG
TAGTCCATGGATATGTGATTACAAAAGAATCCTATGTATGTATCTAGAGTGAGATGGGAAAGTG
TCCCGCTTACCCTCCTTCTACCTCCACCACTTCCTGGCCCAGAGGTAATCACTGCTAACAGGTT
ACAGCATGAATATGTAGTCTGTTTTTCATAACTCTATAGAAATATATGTACATATTTATATTTT
AGAAACAGGATTATGTTATGTGTGTGTTATTCTGTGTCTTGCTTTTGTTCACTTAATGTGTTTT
GGATATCTTTCCATGTCAGTTTATAAAGTTTTATTTTTAATGGC

hide sequence

RefSeq Acc Id:

XM_047446142 ⟹ XP_047302098

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	171,783,405 - 171,855,913 (-)	NCBI

RefSeq Acc Id:

XM_054344307 ⟹ XP_054200282

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	172,260,855 - 172,333,392 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_003696	(Get FASTA)	NCBI Sequence Viewer
	XP_047302098	(Get FASTA)	NCBI Sequence Viewer
	XP_054188849	(Get FASTA)	NCBI Sequence Viewer
	XP_054200282	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH16932	(Get FASTA)	NCBI Sequence Viewer
	AAY24134	(Get FASTA)	NCBI Sequence Viewer
	BAG51120	(Get FASTA)	NCBI Sequence Viewer
	BAG52276	(Get FASTA)	NCBI Sequence Viewer
	BAG57817	(Get FASTA)	NCBI Sequence Viewer
	CAA74834	(Get FASTA)	NCBI Sequence Viewer
	CAD43090	(Get FASTA)	NCBI Sequence Viewer
	EAX11196	(Get FASTA)	NCBI Sequence Viewer
	EAX11197	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000388658
	ENSP00000388658.2
	ENSP00000517838.1
GenBank Protein	O75746	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_003696 ⟸ NM_003705

- UniProtKB:

B3KR64 (UniProtKB/Swiss-Prot), Q96AM8 (UniProtKB/Swiss-Prot), O75746 (UniProtKB/Swiss-Prot), B3KMV8 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MAVKVQTTKRGDPHELRNIFLQYASTEVDGERYMTPEDFVQRYLGLYNDPNSNPKIVQLLAGVA
DQTKDGLISYQEFLAFESVLCAPDSMFIVAFQLFDKSGNGEVTFENVKEIFGQTIIHHHIPFNW
DCEFIRLHFGHNRKKHLNYTEFTQFLQELQLEHARQAFALKDKSKSGMISGLDFSDIMVTIRSH
MLTPFVEENLVSAAGGSISHQVSFSYFNAFNSLLNNMELVRKIYSTLAGTRKDVEVTKEEFAQS
AIRYGQVTPLEIDILYQLADLYNASGRLTLADIERIAPLAEGALPYNLAELQRQQSPGLGRPIW
LQIAESAYRFTLGSVAGAVGATAVYPIDLVKTRMQNQRGSGSVVGELMYKNSFDCFKKVLRYEG
FFGLYRGLIPQLIGVAPEKAIKLTVNDFVRDKFTRRDGSVPLPAEVLAGGCAGGSQVIFTNPLE
IVKIRLQVAGEITTGPRVSALNVLRDLGIFGLYKGAKACFLRDIPFSAIYFPVYAHCKLLLADE
NGHVGGLNLLAAGAMAGVPAASLVTPADVIKTRLQVAARAGQTTYSGVIDCFRKILREEGPSAF
WKGTAARVFRSSPQFGVTLVTYELLQRWFYIDFGGLKPAGSEPTPKSRIADLPPANPDHIGGYR
LATATFAGIENKFGLYLPKFKSPSVAVVQPKAAVAATQ

hide sequence

Ensembl Acc Id:

ENSP00000413968 ⟸ ENST00000426896

Ensembl Acc Id:

ENSP00000263812 ⟸ ENST00000263812

Ensembl Acc Id:

ENSP00000437845 ⟸ ENST00000475360

Ensembl Acc Id:

ENSP00000388658 ⟸ ENST00000422440

RefSeq Acc Id:	XP_047302098 ⟸ XM_047446142
- Peptide Label:	isoform X1
- UniProtKB:	B3KMV8 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054200282 ⟸ XM_054344307
- Peptide Label:	isoform X1
- UniProtKB:	B3KMV8 (UniProtKB/TrEMBL)

Protein Domains

EF-hand

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O75746-F1-model_v2	AlphaFold	O75746	1-678	view protein structure

Promoters

RGD ID:

6862022

Promoter ID:

EPDNEW_H4176

Type:

initiation region

Name:

SLC25A12_1

Description:

solute carrier family 25 member 12

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	171,894,244 - 171,894,304	EPDNEW

RGD ID:

6798179

Promoter ID:

HG_KWN:35907

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Jurkat, Lymphoblastoid

Transcripts:

OTTHUMT00000259012

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	172,457,619 - 172,458,119 (-)	MPROMDB

RGD ID:

6798180

Promoter ID:

HG_KWN:35908

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

NM_003705, OTTHUMT00000334722, UC010FQH.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	172,459,031 - 172,459,942 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:10982	AgrOrtholog
COSMIC	SLC25A12	COSMIC
Ensembl Genes	ENSG00000115840	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
	ENSG00000292099	UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000422440	ENTREZGENE
	ENST00000422440.7	UniProtKB/Swiss-Prot
	ENST00000709717.1	UniProtKB/Swiss-Prot
Gene3D-CATH	1.50.40.10	UniProtKB/Swiss-Prot
	EF-hand	UniProtKB/Swiss-Prot
GTEx	ENSG00000115840	GTEx
	ENSG00000292099	GTEx
HGNC ID	HGNC:10982	ENTREZGENE
Human Proteome Map	SLC25A12	Human Proteome Map
InterPro	EF-hand-dom_pair	UniProtKB/Swiss-Prot
	EF_Hand_1_Ca_BS	UniProtKB/Swiss-Prot
	EF_hand_dom	UniProtKB/Swiss-Prot
	Mit_carrier	UniProtKB/Swiss-Prot
	Mito_Solute_Carrier	UniProtKB/Swiss-Prot
	Mitochondrial_sb/sol_carrier	UniProtKB/Swiss-Prot
	Mt_carrier_dom_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:8604	UniProtKB/Swiss-Prot
NCBI Gene	8604	ENTREZGENE
OMIM	603667	OMIM
PANTHER	CALCIUM-BINDING MITOCHONDRIAL CARRIER PROTEIN ARALAR1	UniProtKB/Swiss-Prot
	MITOCHONDRIAL 2-OXODICARBOXYLATE CARRIER 1-RELATED	UniProtKB/Swiss-Prot
Pfam	Mito_carr	UniProtKB/Swiss-Prot
PharmGKB	PA35858	PharmGKB
PRINTS	MITOCARRIER	UniProtKB/Swiss-Prot
PROSITE	EF_HAND_1	UniProtKB/Swiss-Prot
	EF_HAND_2	UniProtKB/Swiss-Prot
	SOLCAR	UniProtKB/Swiss-Prot
RNAcentral	URS0000D6D4DB	RNACentral
	URS00027ED004	RNACentral
	URS00027F0D88	RNACentral
	URS00027FC4E7	RNACentral
SMART	EFh	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF103506	UniProtKB/Swiss-Prot
	SSF47473	UniProtKB/Swiss-Prot
UniProt	B3KMV8	ENTREZGENE, UniProtKB/TrEMBL
	B3KR64	ENTREZGENE
	B4DGK6_HUMAN	UniProtKB/TrEMBL
	CMC1_HUMAN	UniProtKB/Swiss-Prot
	F8W9J0_HUMAN	UniProtKB/TrEMBL
	H0YFB2_HUMAN	UniProtKB/TrEMBL
	O75746	ENTREZGENE
	Q96AM8	ENTREZGENE
UniProt Secondary	B3KR64	UniProtKB/Swiss-Prot
	Q96AM8	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-03-08	SLC25A12	solute carrier family 25 member 12	SLC25A12	solute carrier family 25 (aspartate/glutamate carrier), member 12	Symbol and/or name change	5135510	APPROVED
2012-04-10	SLC25A12	solute carrier family 25 (aspartate/glutamate carrier), member 12	SLC25A12	solute carrier family 25 (aspartate/glutamate carrier), member 12	Symbol and/or name change	5135510	APPROVED
2012-04-03	SLC25A12	solute carrier family 25 (aspartate/glutamate carrier), member 12	SLC25A12	solute carrier family 25 (mitochondrial carrier, Aralar), member 12	Symbol and/or name change	5135510	APPROVED

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 - MGI

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - SMPDB

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

Send us a Message

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - SMPDB

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar