VARS2 (valyl-tRNA synthetase 2, mitochondrial)

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Gene: VARS2 (valyl-tRNA synthetase 2, mitochondrial) Homo sapiens

Analyze

Symbol:

VARS2

Name:

valyl-tRNA synthetase 2, mitochondrial

RGD ID:

1346332

HGNC Page

HGNC:21642

Description:

Predicted to enable valine-tRNA ligase activity. Predicted to be involved in valyl-tRNA aminoacylation. Predicted to be located in mitochondrion. Predicted to be active in cytosol. Implicated in combined oxidative phosphorylation deficiency 20.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

COXPD20; G7a; MGC138259; MGC142165; valine tRNA ligase 2, mitochondrial (putative); valine--tRNA ligase; valine--tRNA ligase, mitochondrial; valRS; valyl-tRNA synthetase 2, mitochondrial (putative); valyl-tRNA synthetase 2-like; valyl-tRNA synthetase like; valyl-tRNA synthetase, mitochondrial; valyl-tRNA synthetase-like; VARS2L; VARSL

RGD Orthologs

Alliance Genes

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	30,914,238 - 30,926,459 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	30,914,205 - 30,926,459 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	30,882,015 - 30,894,236 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	30,989,961 - 31,002,212 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	30,989,960 - 31,002,212	NCBI
Celera	6	32,480,085 - 32,492,348 (+)	NCBI		Celera
Cytogenetic Map	6	p21.33	NCBI
HuRef	6	30,682,069 - 30,694,336 (+)	NCBI		HuRef
CHM1_1	6	30,884,168 - 30,896,411 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	6	30,778,904 - 30,791,138 (+)	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

combined oxidative phosphorylation deficiency 1 (IAGP)

combined oxidative phosphorylation deficiency 20 (EXP,IAGP)

genetic disease (IAGP)

megacolon (IAGP)

NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (IAGP)

proteasome-associated autoinflammatory syndrome 1 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP)

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

2,4-dinitrotoluene (ISO)

2,6-dinitrotoluene (ISO)

3,4-methylenedioxymethamphetamine (ISO)

3-isobutyl-1-methyl-7H-xanthine (EXP)

4,4'-diaminodiphenylmethane (ISO)

4,4'-sulfonyldiphenol (EXP,ISO)

4-amino-2,6-dinitrotoluene (ISO)

aflatoxin B1 (ISO)

all-trans-retinoic acid (ISO)

ammonium chloride (ISO)

amphetamine (ISO)

aristolochic acid A (EXP)

Aroclor 1254 (ISO)

arsane (EXP)

arsenic atom (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (ISO)

bisphenol F (EXP,ISO)

cadmium dichloride (ISO)

carbon nanotube (ISO)

cobalt dichloride (ISO)

copper(II) sulfate (EXP)

coumestrol (EXP)

cyclosporin A (EXP)

dexamethasone (EXP)

elemental selenium (EXP)

Enterolactone (EXP)

gentamycin (ISO)

hypochlorous acid (ISO)

indometacin (EXP)

levetiracetam (ISO)

lipopolysaccharide (EXP)

menadione (EXP)

paracetamol (EXP)

phenytoin (ISO)

selenium atom (EXP)

thioacetamide (ISO)

titanium dioxide (ISO)

trimellitic anhydride (ISO)

valproic acid (EXP)

vitamin E (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

aminoacyl-tRNA metabolism involved in translational fidelity (IEA)

translation (IEA)

tRNA aminoacylation for protein translation (IEA)

tRNA metabolic process (IEA)

valyl-tRNA aminoacylation (IBA,IEA)

Cellular Component

cytosol (IBA)

mitochondrion (IEA)

Molecular Function

aminoacyl-tRNA editing activity (IEA)

aminoacyl-tRNA ligase activity (IEA)

ATP binding (IEA)

ligase activity (IEA)

nucleotide binding (IEA)

protein binding (IPI)

valine-tRNA ligase activity (IBA,IEA,IMP)

Molecular Pathway Annotations Click to see Annotation Detail View

valine, leucine and isoleucine biosynthetic pathway (IEA)

External Pathway Database Links

KEGG Pathway

Valine, leucine and isoleucine biosynthesis

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Aganglionic megacolon (IAGP)

Ataxia (IAGP)

Autosomal recessive inheritance (IAGP)

Cerebellar hypoplasia (IAGP)

Decreased activity of mitochondrial complex I (IAGP)

Decreased activity of mitochondrial complex IV (IAGP)

EEG with burst suppression (IAGP)

Elevated brain lactate level by MRS (IAGP)

Focal-onset seizure (IAGP)

Global developmental delay (IAGP)

Hyperalaninemia (IAGP)

Hypertonia (IAGP)

Hypertrophic cardiomyopathy (IAGP)

Hypoplasia of the corpus callosum (IAGP)

Hypotonia (IAGP)

Infantile onset (IAGP)

Lactic acidosis (IAGP)

Left ventricular noncompaction (IAGP)

Microcephaly (IAGP)

Muscle weakness (IAGP)

Neonatal onset (IAGP)

Progressive external ophthalmoplegia (IAGP)

Ptosis (IAGP)

Respiratory insufficiency (IAGP)

Small for gestational age (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
3.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

Additional References at PubMed

PMID:11572484	PMID:12477932	PMID:14702039	PMID:15779907	PMID:18400783	PMID:18624398	PMID:19116923	PMID:19851445	PMID:20041166	PMID:20186120	PMID:20503108	PMID:20848476
PMID:20877624	PMID:21682861	PMID:21873635	PMID:23449627	PMID:24827421	PMID:25058219	PMID:25404243	PMID:25416956	PMID:27025967	PMID:28514442	PMID:28986522	PMID:29137650
PMID:29314548	PMID:29395067	PMID:29568061	PMID:29892012	PMID:29991511	PMID:30404004	PMID:30458719	PMID:30619736	PMID:31056398	PMID:31064326	PMID:31091453	PMID:31529142
PMID:31617661	PMID:32296183	PMID:32628020	PMID:32694731	PMID:32877691	PMID:32941674	PMID:33226137	PMID:33957083	PMID:33961781	PMID:34079125	PMID:34373451	PMID:35831314
PMID:36244648

Genomics

Comparative Map Data

VARS2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	30,914,238 - 30,926,459 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	30,914,205 - 30,926,459 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	30,882,015 - 30,894,236 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	30,989,961 - 31,002,212 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	30,989,960 - 31,002,212	NCBI
Celera	6	32,480,085 - 32,492,348 (+)	NCBI		Celera
Cytogenetic Map	6	p21.33	NCBI
HuRef	6	30,682,069 - 30,694,336 (+)	NCBI		HuRef
CHM1_1	6	30,884,168 - 30,896,411 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	6	30,778,904 - 30,791,138 (+)	NCBI		T2T-CHM13v2.0

Vars2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	17	35,966,526 - 35,978,531 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	17	35,966,526 - 35,978,484 (-)	Ensembl		GRCm39 Ensembl
GRCm38	17	35,655,634 - 35,667,639 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	17	35,655,634 - 35,667,592 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	17	35,792,579 - 35,804,537 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	17	34,743,659 - 34,754,865 (-)	NCBI		MGSCv36	mm8
MGSCv36	17	35,264,443 - 35,275,645 (-)	NCBI		MGSCv36	mm8
Cytogenetic Map	17	B1	NCBI
cM Map	17	18.7	NCBI

Vars2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	20	3,077,132 - 3,087,994 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	20	3,077,132 - 3,087,994 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	20	3,128,469 - 3,139,341 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	20	3,133,442 - 3,144,314 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	20	3,159,764 - 3,170,643 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	20	3,588,462 - 3,599,514 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	20	3,588,497 - 3,599,514 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	20	5,685,445 - 5,696,499 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	20	3,228,063 - 3,238,909 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	20	3,228,289 - 3,239,136 (+)	NCBI
Celera	20	502,836 - 513,682 (+)	NCBI		Celera
Cytogenetic Map	20	p12	NCBI

Vars2
(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_004955583	848,481 - 866,424 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955583	848,166 - 862,360 (+)	NCBI	ChiLan1.0	ChiLan1.0

VARS2
(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	6	41,437,981 - 41,452,350 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	6	30,659,346 - 30,671,678 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	6	31,527,503 - 31,539,814 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	6	31,527,372 - 31,539,814 (+)	Ensembl	panpan1.1		panPan2

VARS2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	12	681,638 - 694,154 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	12	680,484 - 693,913 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	12	819,638 - 832,091 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	12	826,116 - 838,552 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	12	826,144 - 839,748 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	12	685,417 - 697,855 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	12	753,862 - 766,305 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	12	821,750 - 834,201 (+)	NCBI		UU_Cfam_GSD_1.0

Vars2
(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_024404946	34,187,526 - 34,200,138 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936837	552,839 - 565,530 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936837	552,837 - 565,348 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

VARS2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	7	23,404,824 - 23,416,439 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	7	23,404,400 - 23,416,442 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	7	27,126,633 - 27,138,695 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

VARS2
(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	17	41,537,842 - 41,550,063 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	17	41,534,552 - 41,549,439 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666044	30,615,225 - 30,627,428 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Vars2
(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_004624754	24,856,939 - 24,870,932 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624754	24,856,704 - 24,870,932 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in VARS2
386 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_020442.6(VARS2):c.1463_1465del (p.Gly488del)	deletion	Combined oxidative phosphorylation defect type 20 [RCV000578269]	Chr6:30920731..30920733 [GRCh38] Chr6:30888508..30888510 [GRCh37] Chr6:6p21.33	likely pathogenic
NM_020442.6(VARS2):c.2758T>C (p.Tyr920His)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV001293011]	Chr6:30925358 [GRCh38] Chr6:30893135 [GRCh37] Chr6:6p21.33	pathogenic
NM_020442.6(VARS2):c.1045G>A (p.Ala349Thr)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV000129933]	Chr6:30918886 [GRCh38] Chr6:30886663 [GRCh37] Chr6:6p21.33	pathogenic
NM_020442.6(VARS2):c.1787C>A (p.Ala596Asp)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV000129935]	Chr6:30921976 [GRCh38] Chr6:30889753 [GRCh37] Chr6:6p21.33	pathogenic
NM_020442.6(VARS2):c.1010C>T (p.Thr337Ile)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV000129937]\|Inborn genetic diseases [RCV000623604]\|not provided [RCV001090482]	Chr6:30918851 [GRCh38] Chr6:30886628 [GRCh37] Chr6:6p21.33	pathogenic\|likely pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	copy number gain	See cases [RCV000143497]	Chr6:156974..46789291 [GRCh38] Chr6:156974..46757028 [GRCh37] Chr6:101974..46864987 [NCBI36] Chr6:6p25.3-12.3	pathogenic
NM_020442.6(VARS2):c.511C>T (p.Arg171Trp)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV000578261]\|Inborn genetic diseases [RCV000622841]	Chr6:30915985 [GRCh38] Chr6:30883762 [GRCh37] Chr6:6p21.33	pathogenic\|likely pathogenic
NM_020442.6(VARS2):c.2322C>T (p.Pro774=)	single nucleotide variant	not provided [RCV002166707]	Chr6:30923361 [GRCh38] Chr6:30891138 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.2479C>G (p.Pro827Ala)	single nucleotide variant	not specified [RCV000238912]	Chr6:30924366 [GRCh38] Chr6:30892143 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.3091-6G>A	single nucleotide variant	Inborn genetic diseases [RCV002529586]\|not provided [RCV001718896]	Chr6:30926103 [GRCh38] Chr6:30893880 [GRCh37] Chr6:6p21.33	likely benign\|uncertain significance
NM_020442.6(VARS2):c.423G>A (p.Met141Ile)	single nucleotide variant	Inborn genetic diseases [RCV002526002]\|not provided [RCV000487589]	Chr6:30915784 [GRCh38] Chr6:30883561 [GRCh37] Chr6:6p21.33	benign\|likely benign\|uncertain significance
NM_020442.6(VARS2):c.3036C>G (p.Ser1012Arg)	single nucleotide variant	not provided [RCV000489697]	Chr6:30925954 [GRCh38] Chr6:30893731 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.608_609insCCC (p.Gly203_Val204insPro)	insertion	not provided [RCV000489734]	Chr6:30916186..30916187 [GRCh38] Chr6:30883963..30883964 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2090T>C (p.Ile697Thr)	single nucleotide variant	not provided [RCV001566739]	Chr6:30922758 [GRCh38] Chr6:30890535 [GRCh37] Chr6:6p21.33	benign\|likely benign
NM_020442.6(VARS2):c.1933-32A>C	single nucleotide variant	not provided [RCV001575196]	Chr6:30922418 [GRCh38] Chr6:30890195 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.671+1G>C	single nucleotide variant	not provided [RCV000595156]	Chr6:30916250 [GRCh38] Chr6:30884027 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.283+3A>G	single nucleotide variant	not provided [RCV001719121]	Chr6:30915240 [GRCh38] Chr6:30883017 [GRCh37] Chr6:6p21.33	likely benign\|conflicting interpretations of pathogenicity
NM_020442.6(VARS2):c.986-14A>G	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV000625985]	Chr6:30918813 [GRCh38] Chr6:30886590 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1400G>C (p.Arg467Pro)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV000578459]	Chr6:30920670 [GRCh38] Chr6:30888447 [GRCh37] Chr6:6p21.33	likely pathogenic
NM_020442.6(VARS2):c.2228G>A (p.Arg743Gln)	single nucleotide variant	not specified [RCV000414668]	Chr6:30923146 [GRCh38] Chr6:30890923 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1468C>T (p.Arg490Ter)	single nucleotide variant	VARS2-related disorders [RCV003336164]\|not provided [RCV000733468]	Chr6:30920738 [GRCh38] Chr6:30888515 [GRCh37] Chr6:6p21.33	likely pathogenic\|uncertain significance
NM_020442.6(VARS2):c.1850C>T (p.Thr617Met)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV000709983]\|not provided [RCV000676492]\|not specified [RCV000413756]	Chr6:30922159 [GRCh38] Chr6:30889936 [GRCh37] Chr6:6p21.33	uncertain significance\|not provided
GRCh37/hg19 6p21.33(chr6:30860807-30957425)x3	copy number gain	See cases [RCV000446768]	Chr6:30860807..30957425 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2186-10T>C	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV002244879]\|not provided [RCV000676494]\|not specified [RCV000420601]	Chr6:30923094 [GRCh38] Chr6:30890871 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.2038G>T (p.Val680Leu)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV000987663]\|not provided [RCV000676493]\|not specified [RCV000427193]	Chr6:30922706 [GRCh38] Chr6:30890483 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.3091-16T>C	single nucleotide variant	not provided [RCV002062500]\|not specified [RCV000434286]	Chr6:30926093 [GRCh38] Chr6:30893870 [GRCh37] Chr6:6p21.33	benign\|likely benign
NM_020442.6(VARS2):c.1288C>T (p.Leu430=)	single nucleotide variant	not provided [RCV000676488]\|not specified [RCV000445010]	Chr6:30920211 [GRCh38] Chr6:30887988 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.168G>T (p.Ala56=)	single nucleotide variant	not provided [RCV000676480]\|not specified [RCV000445083]	Chr6:30915004 [GRCh38] Chr6:30882781 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.2893G>A (p.Ala965Thr)	single nucleotide variant	not provided [RCV000676499]\|not specified [RCV000417759]	Chr6:30925651 [GRCh38] Chr6:30893428 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.1065G>A (p.Ser355=)	single nucleotide variant	not provided [RCV001703740]	Chr6:30918906 [GRCh38] Chr6:30886683 [GRCh37] Chr6:6p21.33	benign\|likely benign
NM_020442.6(VARS2):c.2658C>T (p.Pro886=)	single nucleotide variant	not provided [RCV000676497]\|not specified [RCV000431274]	Chr6:30924545 [GRCh38] Chr6:30892322 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.2106+18G>T	single nucleotide variant	not provided [RCV001522380]\|not specified [RCV000437854]	Chr6:30922792 [GRCh38] Chr6:30890569 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.2412C>T (p.Leu804=)	single nucleotide variant	not provided [RCV001510497]\|not specified [RCV000417908]	Chr6:30923451 [GRCh38] Chr6:30891228 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.2467-19C>T	single nucleotide variant	not provided [RCV002059663]\|not specified [RCV000431537]	Chr6:30924335 [GRCh38] Chr6:30892112 [GRCh37] Chr6:6p21.33	benign\|likely benign
NM_020442.6(VARS2):c.639C>T (p.Ala213=)	single nucleotide variant	not specified [RCV000438121]	Chr6:30916217 [GRCh38] Chr6:30883994 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1557-5G>A	single nucleotide variant	not specified [RCV000441767]	Chr6:30921225 [GRCh38] Chr6:30889002 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.2750G>A (p.Arg917Gln)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV000987664]\|not provided [RCV000676498]\|not specified [RCV000434969]	Chr6:30925350 [GRCh38] Chr6:30893127 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.3091-10C>T	single nucleotide variant	not provided [RCV002059802]\|not specified [RCV000424545]	Chr6:30926099 [GRCh38] Chr6:30893876 [GRCh37] Chr6:6p21.33	benign\|likely benign
NM_020442.6(VARS2):c.2328C>T (p.Ser776=)	single nucleotide variant	not provided [RCV000676495]\|not specified [RCV000435108]	Chr6:30923367 [GRCh38] Chr6:30891144 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.1670C>A (p.Ala557Asp)	single nucleotide variant	not provided [RCV002064983]\|not specified [RCV000438548]	Chr6:30921626 [GRCh38] Chr6:30889403 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.2496G>C (p.Ser832=)	single nucleotide variant	not specified [RCV000418530]	Chr6:30924383 [GRCh38] Chr6:30892160 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.876G>A (p.Val292=)	single nucleotide variant	not provided [RCV000676485]\|not specified [RCV000418723]	Chr6:30917697 [GRCh38] Chr6:30885474 [GRCh37] Chr6:6p21.33	benign\|likely benign
NM_020442.6(VARS2):c.-28+82T>C	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV002244877]\|not provided [RCV000676476]\|not specified [RCV000421351]	Chr6:30914426 [GRCh38] Chr6:30882203 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.76C>T (p.His26Tyr)	single nucleotide variant	not provided [RCV000676479]\|not specified [RCV000424880]	Chr6:30914912 [GRCh38] Chr6:30882689 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.2673+11A>G	single nucleotide variant	not specified [RCV000442584]	Chr6:30924571 [GRCh38] Chr6:30892348 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.2107-13C>T	single nucleotide variant	not specified [RCV000442607]	Chr6:30922885 [GRCh38] Chr6:30890662 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.3033C>T (p.Asp1011=)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV002244880]\|not provided [RCV000676500]\|not specified [RCV000428527]	Chr6:30925951 [GRCh38] Chr6:30893728 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.21C>T (p.Ala7=)	single nucleotide variant	not provided [RCV000676478]\|not specified [RCV000432022]	Chr6:30914857 [GRCh38] Chr6:30882634 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.190G>A (p.Gly64Arg)	single nucleotide variant	not provided [RCV000676481]\|not specified [RCV000432036]	Chr6:30915026 [GRCh38] Chr6:30882803 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.3146G>A (p.Arg1049Gln)	single nucleotide variant	not provided [RCV000676501]\|not specified [RCV000439193]	Chr6:30926164 [GRCh38] Chr6:30893941 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.1864C>T (p.Leu622=)	single nucleotide variant	not specified [RCV000442695]	Chr6:30922173 [GRCh38] Chr6:30889950 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.2578C>T (p.Leu860=)	single nucleotide variant	not provided [RCV001510290]\|not specified [RCV000439240]	Chr6:30924465 [GRCh38] Chr6:30892242 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.1233C>T (p.Ser411=)	single nucleotide variant	not specified [RCV000439376]	Chr6:30920156 [GRCh38] Chr6:30887933 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.574-9C>T	single nucleotide variant	not provided [RCV000676482]\|not specified [RCV000425502]	Chr6:30916143 [GRCh38] Chr6:30883920 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.2500C>T (p.Arg834Cys)	single nucleotide variant	not provided [RCV000426536]	Chr6:30924387 [GRCh38] Chr6:30892164 [GRCh37] Chr6:6p21.33	benign\|likely benign
NM_020442.6(VARS2):c.1272C>T (p.Ser424=)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV002244878]\|not provided [RCV000676487]\|not specified [RCV000432737]	Chr6:30920195 [GRCh38] Chr6:30887972 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.1514C>T (p.Ser505Phe)	single nucleotide variant	not provided [RCV000514934]\|not specified [RCV000429442]	Chr6:30921099 [GRCh38] Chr6:30888876 [GRCh37] Chr6:6p21.33	benign\|likely benign
NM_020442.6(VARS2):c.-28+14G>C	single nucleotide variant	not specified [RCV000429638]	Chr6:30914358 [GRCh38] Chr6:30882135 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1074+15G>A	single nucleotide variant	not provided [RCV001703870]	Chr6:30918930 [GRCh38] Chr6:30886707 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1345T>C (p.Trp449Arg)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV000987661]\|not provided [RCV000676489]\|not specified [RCV000426168]	Chr6:30920384 [GRCh38] Chr6:30888161 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.2106+18G>A	single nucleotide variant	not provided [RCV002522671]\|not specified [RCV000433033]	Chr6:30922792 [GRCh38] Chr6:30890569 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1480-9T>C	single nucleotide variant	not provided [RCV002062511]\|not specified [RCV000436569]	Chr6:30921056 [GRCh38] Chr6:30888833 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.864G>A (p.Ser288=)	single nucleotide variant	not provided [RCV000676484]	Chr6:30917215 [GRCh38] Chr6:30884992 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1656T>C (p.Val552=)	single nucleotide variant	not provided [RCV000676491]\|not specified [RCV000443955]	Chr6:30921612 [GRCh38] Chr6:30889389 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.1353G>A (p.Leu451=)	single nucleotide variant	not provided [RCV000676490]\|not specified [RCV000437198]	Chr6:30920392 [GRCh38] Chr6:30888169 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.2293G>A (p.Val765Met)	single nucleotide variant	not provided [RCV000440067]	Chr6:30923211 [GRCh38] Chr6:30890988 [GRCh37] Chr6:6p21.33	benign\|likely benign
NM_020442.6(VARS2):c.1131C>T (p.Ile377=)	single nucleotide variant	not specified [RCV000444667]	Chr6:30919814 [GRCh38] Chr6:30887591 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.-27-21CT[4]	microsatellite	not provided [RCV001712447]	Chr6:30914789..30914790 [GRCh38] Chr6:30882566..30882567 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.2551C>T (p.Arg851Cys)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV001334849]\|not provided [RCV000514806]	Chr6:30924438 [GRCh38] Chr6:30892215 [GRCh37] Chr6:6p21.33	conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	copy number gain	See cases [RCV000512067]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	copy number gain	See cases [RCV000510595]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
NM_020442.6(VARS2):c.2913G>A (p.Trp971Ter)	single nucleotide variant	not provided [RCV000498516]	Chr6:30925671 [GRCh38] Chr6:30893448 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.911G>A (p.Arg304Gln)	single nucleotide variant	not provided [RCV000498604]	Chr6:30917732 [GRCh38] Chr6:30885509 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV000625984]\|Inborn genetic diseases [RCV002529769]\|See cases [RCV002252181]\|not provided [RCV000676486]	Chr6:30920091 [GRCh38] Chr6:30887868 [GRCh37] Chr6:6p21.33	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_020442.6(VARS2):c.-36G>A	single nucleotide variant	not specified [RCV000606497]	Chr6:30914336 [GRCh38] Chr6:30882113 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1073C>T (p.Thr358Ile)	single nucleotide variant	Inborn genetic diseases [RCV000623799]\|not provided [RCV001577439]	Chr6:30918914 [GRCh38] Chr6:30886691 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1660C>T (p.Arg554Trp)	single nucleotide variant	not provided [RCV000514593]	Chr6:30921616 [GRCh38] Chr6:30889393 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.3050C>A (p.Thr1017Asn)	single nucleotide variant	Inborn genetic diseases [RCV003275635]	Chr6:30925968 [GRCh38] Chr6:30893745 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.874-7C>T	single nucleotide variant	not provided [RCV001712697]	Chr6:30917688 [GRCh38] Chr6:30885465 [GRCh37] Chr6:6p21.33	benign\|likely benign
NM_020442.6(VARS2):c.507-8T>C	single nucleotide variant	not specified [RCV000612681]	Chr6:30915973 [GRCh38] Chr6:30883750 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.607G>A (p.Gly203Arg)	single nucleotide variant	not provided [RCV000676483]	Chr6:30916185 [GRCh38] Chr6:30883962 [GRCh37] Chr6:6p21.33	benign\|likely benign
NM_020442.6(VARS2):c.315C>T (p.Ser105=)	single nucleotide variant	not provided [RCV001697507]	Chr6:30915386 [GRCh38] Chr6:30883163 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.69C>A (p.Pro23=)	single nucleotide variant	not specified [RCV000607935]	Chr6:30914905 [GRCh38] Chr6:30882682 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.2674-15C>T	single nucleotide variant	not specified [RCV000616692]	Chr6:30925259 [GRCh38] Chr6:30893036 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.2785+13G>A	single nucleotide variant	not provided [RCV001722642]	Chr6:30925398 [GRCh38] Chr6:30893175 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1338G>A (p.Leu446=)	single nucleotide variant	not provided [RCV001722613]	Chr6:30920377 [GRCh38] Chr6:30888154 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.672-16A>C	single nucleotide variant	not provided [RCV002064184]\|not specified [RCV000614077]	Chr6:30916862 [GRCh38] Chr6:30884639 [GRCh37] Chr6:6p21.33	benign\|likely benign
NM_020442.6(VARS2):c.730C>A (p.Arg244=)	single nucleotide variant	not specified [RCV000614260]	Chr6:30916936 [GRCh38] Chr6:30884713 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1083C>T (p.His361=)	single nucleotide variant	not provided [RCV002528577]\|not specified [RCV000611615]	Chr6:30919766 [GRCh38] Chr6:30887543 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.2786-6T>C	single nucleotide variant	not provided [RCV001698443]	Chr6:30925538 [GRCh38] Chr6:30893315 [GRCh37] Chr6:6p21.33	likely benign
NM_006295.3(VARS1):c.1981C>A (p.Pro661Thr)	single nucleotide variant	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [RCV000625726]	Chr6:31782540 [GRCh38] Chr6:31750317 [GRCh37] Chr6:6p21.33	likely pathogenic
NM_020442.6(VARS2):c.-27-1G>T	single nucleotide variant	not provided [RCV000676477]	Chr6:30914809 [GRCh38] Chr6:30882586 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2330C>T (p.Pro777Leu)	single nucleotide variant	not provided [RCV000676496]	Chr6:30923369 [GRCh38] Chr6:30891146 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.3098C>T (p.Ser1033Phe)	single nucleotide variant	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000714819]	Chr6:30926116 [GRCh38] Chr6:30893893 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1166-15G>T	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV001808111]	Chr6:30920074 [GRCh38] Chr6:30887851 [GRCh37] Chr6:6p21.33	uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3	copy number gain	not provided [RCV000745400]	Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27	pathogenic
NM_020442.6(VARS2):c.671+205GT[11]	indel	not provided [RCV001530608]	Chr6:30916454..30916455 [GRCh38] Chr6:30884231..30884232 [GRCh37] Chr6:6p21.33	likely benign
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3	copy number gain	not provided [RCV000745403]	Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3	copy number gain	not provided [RCV000745404]	Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p22.1-21.32(chr6:28130359-32108367)x3	copy number gain	not provided [RCV000745592]	Chr6:28130359..32108367 [GRCh37] Chr6:6p22.1-21.32	uncertain significance
NM_020442.6(VARS2):c.985+257TTTG[4]	microsatellite	not provided [RCV001608780]	Chr6:30918063..30918066 [GRCh38] Chr6:30885840..30885843 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.1933-33_1933-32insG	insertion	not provided [RCV001583307]	Chr6:30922417..30922418 [GRCh38] Chr6:30890194..30890195 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.3091-3C>T	single nucleotide variant	not provided [RCV001549318]	Chr6:30926106 [GRCh38] Chr6:30893883 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.2584G>A (p.Glu862Lys)	single nucleotide variant	not provided [RCV001585212]	Chr6:30924471 [GRCh38] Chr6:30892248 [GRCh37] Chr6:6p21.33	likely pathogenic\|conflicting interpretations of pathogenicity
NM_020442.6(VARS2):c.574-27G>T	single nucleotide variant	not provided [RCV001585478]	Chr6:30916125 [GRCh38] Chr6:30883902 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.2467-145T>C	single nucleotide variant	not provided [RCV001575093]	Chr6:30924209 [GRCh38] Chr6:30891986 [GRCh37] Chr6:6p21.33	likely benign
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	copy number gain	not provided [RCV000767714]	Chr6:29455465..81447367 [GRCh37] Chr6:6p22.1-q14.1	pathogenic
NM_020442.6(VARS2):c.298C>G (p.Leu100Val)	single nucleotide variant	Inborn genetic diseases [RCV003271659]	Chr6:30915369 [GRCh38] Chr6:30883146 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.-27-172C>T	single nucleotide variant	not provided [RCV000832642]	Chr6:30914638 [GRCh38] Chr6:30882415 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.1074+37C>T	single nucleotide variant	not provided [RCV000835871]	Chr6:30918952 [GRCh38] Chr6:30886729 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.104A>G (p.His35Arg)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV000791151]\|Inborn genetic diseases [RCV002535831]	Chr6:30914940 [GRCh38] Chr6:30882717 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.985+238G>A	single nucleotide variant	not provided [RCV000828669]	Chr6:30918044 [GRCh38] Chr6:30885821 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.2124C>T (p.His708=)	single nucleotide variant	not provided [RCV000840127]	Chr6:30922915 [GRCh38] Chr6:30890692 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1691C>T (p.Ala564Val)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV001270040]\|not provided [RCV000998552]\|not specified [RCV001732009]	Chr6:30921647 [GRCh38] Chr6:30889424 [GRCh37] Chr6:6p21.33	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_020442.6(VARS2):c.1398-107G>A	single nucleotide variant	not provided [RCV000834969]	Chr6:30920561 [GRCh38] Chr6:30888338 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.574-42_574-35del	microsatellite	Combined oxidative phosphorylation defect type 20 [RCV002245705]\|not provided [RCV000836208]	Chr6:30916102..30916109 [GRCh38] Chr6:30883879..30883886 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.2961+69del	deletion	not provided [RCV000836593]	Chr6:30925786 [GRCh38] Chr6:30893563 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.3020A>G (p.Gln1007Arg)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV000791150]\|not provided [RCV001509267]	Chr6:30925938 [GRCh38] Chr6:30893715 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.671+229A>T	single nucleotide variant	not provided [RCV000828667]	Chr6:30916478 [GRCh38] Chr6:30884255 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.1075-224C>T	single nucleotide variant	not provided [RCV000828671]	Chr6:30919534 [GRCh38] Chr6:30887311 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.-27-156C>T	single nucleotide variant	not provided [RCV000835895]	Chr6:30914654 [GRCh38] Chr6:30882431 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.1074+235G>C	single nucleotide variant	not provided [RCV000833093]	Chr6:30919150 [GRCh38] Chr6:30886927 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.2466+168G>C	single nucleotide variant	not provided [RCV000833095]	Chr6:30923673 [GRCh38] Chr6:30891450 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.986-254C>G	single nucleotide variant	not provided [RCV000828670]	Chr6:30918573 [GRCh38] Chr6:30886350 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.2673+255G>C	single nucleotide variant	not provided [RCV000828673]	Chr6:30924815 [GRCh38] Chr6:30892592 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.1075-191T>C	single nucleotide variant	not provided [RCV000828672]	Chr6:30919567 [GRCh38] Chr6:30887344 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.672-219A>G	single nucleotide variant	not provided [RCV000828668]	Chr6:30916659 [GRCh38] Chr6:30884436 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.2673+184G>A	single nucleotide variant	not provided [RCV000844537]	Chr6:30924744 [GRCh38] Chr6:30892521 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.1166-83_1166-67dup	microsatellite	not provided [RCV000835886]	Chr6:30920003..30920004 [GRCh38] Chr6:30887780..30887781 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.1637A>T (p.Glu546Val)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV001169882]	Chr6:30921593 [GRCh38] Chr6:30889370 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.513_516dup (p.Arg173fs)	duplication	not provided [RCV000998551]	Chr6:30915985..30915986 [GRCh38] Chr6:30883762..30883763 [GRCh37] Chr6:6p21.33	likely pathogenic
NM_020442.6(VARS2):c.2149G>A (p.Ala717Thr)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV001201409]	Chr6:30922940 [GRCh38] Chr6:30890717 [GRCh37] Chr6:6p21.33	pathogenic
NM_020442.6(VARS2):c.1456G>T (p.Glu486Ter)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV001201407]\|Inborn genetic diseases [RCV002560287]\|not provided [RCV002253783]	Chr6:30920726 [GRCh38] Chr6:30888503 [GRCh37] Chr6:6p21.33	pathogenic\|likely pathogenic
NM_020442.6(VARS2):c.1081C>T (p.His361Tyr)	single nucleotide variant	Inborn genetic diseases [RCV003273242]	Chr6:30919764 [GRCh38] Chr6:30887541 [GRCh37] Chr6:6p21.33	uncertain significance
NC_000006.11:g.(?_30890861)_(30892357_?)del	deletion	not provided [RCV003105610]	Chr6:30890861..30892357 [GRCh37] Chr6:6p21.33	pathogenic
NM_020442.6(VARS2):c.1263C>T (p.Thr421=)	single nucleotide variant	not provided [RCV003106273]	Chr6:30920186 [GRCh38] Chr6:30887963 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1074+32C>T	single nucleotide variant	not provided [RCV001576064]	Chr6:30918947 [GRCh38] Chr6:30886724 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.2673+150C>T	single nucleotide variant	not provided [RCV001549982]	Chr6:30924710 [GRCh38] Chr6:30892487 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1633-74C>T	single nucleotide variant	not provided [RCV001545120]	Chr6:30921515 [GRCh38] Chr6:30889292 [GRCh37] Chr6:6p21.33	likely benign
NC_000006.11:g.(?_30695893)_(31937492_?)dup	duplication	not provided [RCV003107453]	Chr6:30695893..31937492 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2038-2A>G	single nucleotide variant	not provided [RCV003106621]	Chr6:30922704 [GRCh38] Chr6:30890481 [GRCh37] Chr6:6p21.33	likely pathogenic
NM_020442.6(VARS2):c.1933-69G>A	single nucleotide variant	not provided [RCV001555236]	Chr6:30922381 [GRCh38] Chr6:30890158 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.671+219_671+220insGGTG	insertion	not provided [RCV001671199]	Chr6:30916465..30916466 [GRCh38] Chr6:30884242..30884243 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.985+103T>A	single nucleotide variant	not provided [RCV001638981]	Chr6:30917909 [GRCh38] Chr6:30885686 [GRCh37] Chr6:6p21.33	benign
NM_001517.5(GTF2H4):c.*121del	deletion	not provided [RCV001638349]	Chr6:30914104 [GRCh38] Chr6:30881881 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.-27-81T>C	single nucleotide variant	not provided [RCV001561978]	Chr6:30914729 [GRCh38] Chr6:30882506 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.671+205GT[13]	indel	not provided [RCV001696287]	Chr6:30916453..30916454 [GRCh38] Chr6:30884230..30884231 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.671+231_671+232dup	duplication	not provided [RCV001620003]	Chr6:30916478..30916479 [GRCh38] Chr6:30884255..30884256 [GRCh37] Chr6:6p21.33	benign
NC_000006.12:g.30914118_30914129del	deletion	not provided [RCV001569889]	Chr6:30914114..30914125 [GRCh38] Chr6:30881891..30881902 [GRCh37] Chr6:6p21.33	likely benign
NM_001517.5(GTF2H4):c.*39T>A	single nucleotide variant	not provided [RCV001552564]	Chr6:30914022 [GRCh38] Chr6:30881799 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.671+232TA[10]	microsatellite	not provided [RCV001674884]	Chr6:30916480..30916481 [GRCh38] Chr6:30884257..30884258 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.1074+38G>A	single nucleotide variant	not provided [RCV001587917]	Chr6:30918953 [GRCh38] Chr6:30886730 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.251_270del (p.Tyr84fs)	deletion	not provided [RCV001590201]	Chr6:30915205..30915224 [GRCh38] Chr6:30882982..30883001 [GRCh37] Chr6:6p21.33	likely pathogenic
NM_020442.6(VARS2):c.1060G>A (p.Asp354Asn)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV001201410]	Chr6:30918901 [GRCh38] Chr6:30886678 [GRCh37] Chr6:6p21.33	pathogenic
NM_020442.6(VARS2):c.671+232TA[11]	microsatellite	not provided [RCV001562258]	Chr6:30916480..30916481 [GRCh38] Chr6:30884257..30884258 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.671+247A>T	single nucleotide variant	not provided [RCV001562512]	Chr6:30916496 [GRCh38] Chr6:30884273 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.938C>A (p.Ser313Tyr)	single nucleotide variant	not provided [RCV001732549]	Chr6:30917759 [GRCh38] Chr6:30885536 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.23C>A (p.Ser8Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002538709]\|not provided [RCV001732493]	Chr6:30914859 [GRCh38] Chr6:30882636 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1834_1835del (p.Leu612fs)	deletion	Combined oxidative phosphorylation defect type 20 [RCV000987662]	Chr6:30922143..30922144 [GRCh38] Chr6:30889920..30889921 [GRCh37] Chr6:6p21.33	pathogenic\|likely pathogenic
NM_020442.6(VARS2):c.2589G>C (p.Glu863Asp)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV002243307]\|not provided [RCV001576755]	Chr6:30924476 [GRCh38] Chr6:30892253 [GRCh37] Chr6:6p21.33	conflicting interpretations of pathogenicity\|uncertain significance
NM_020442.6(VARS2):c.1632+38A>G	single nucleotide variant	not provided [RCV001717043]	Chr6:30921343 [GRCh38] Chr6:30889120 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.2467-77A>G	single nucleotide variant	not provided [RCV001717044]	Chr6:30924277 [GRCh38] Chr6:30892054 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.1479+91G>A	single nucleotide variant	not provided [RCV001597798]	Chr6:30920840 [GRCh38] Chr6:30888617 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.671+205GT[15]	indel	not provided [RCV001581283]	Chr6:30916453..30916454 [GRCh38] Chr6:30884230..30884231 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.2673+40G>C	single nucleotide variant	not provided [RCV001620514]	Chr6:30924600 [GRCh38] Chr6:30892377 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.2674-51del	deletion	not provided [RCV001620711]	Chr6:30925223 [GRCh38] Chr6:30893000 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.2466+168del	deletion	not provided [RCV001636287]	Chr6:30923672 [GRCh38] Chr6:30891449 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.753+70A>C	single nucleotide variant	not provided [RCV001648802]	Chr6:30917029 [GRCh38] Chr6:30884806 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.2038-52A>G	single nucleotide variant	not provided [RCV001648820]	Chr6:30922654 [GRCh38] Chr6:30890431 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.1075-293G>A	single nucleotide variant	not provided [RCV001681005]	Chr6:30919465 [GRCh38] Chr6:30887242 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.671+225G>A	single nucleotide variant	not provided [RCV001614436]	Chr6:30916474 [GRCh38] Chr6:30884251 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.1932+37T>C	single nucleotide variant	not provided [RCV001714368]	Chr6:30922278 [GRCh38] Chr6:30890055 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.671+205GT[14]	indel	not provided [RCV001681402]	Chr6:30916453..30916454 [GRCh38] Chr6:30884230..30884231 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.1633-106G>A	single nucleotide variant	not provided [RCV001667770]	Chr6:30921483 [GRCh38] Chr6:30889260 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.-27-74A>G	single nucleotide variant	not provided [RCV001649715]	Chr6:30914736 [GRCh38] Chr6:30882513 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.2786-70G>A	single nucleotide variant	not provided [RCV001714370]	Chr6:30925474 [GRCh38] Chr6:30893251 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.2826C>T (p.Phe942=)	single nucleotide variant	not provided [RCV001574587]	Chr6:30925584 [GRCh38] Chr6:30893361 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1400G>A (p.Arg467His)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV001201408]	Chr6:30920670 [GRCh38] Chr6:30888447 [GRCh37] Chr6:6p21.33	pathogenic\|uncertain significance
NM_020442.6(VARS2):c.2467-2A>G	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV001201411]\|not provided [RCV001312050]	Chr6:30924352 [GRCh38] Chr6:30892129 [GRCh37] Chr6:6p21.33	pathogenic\|likely pathogenic
NM_020442.6(VARS2):c.2038-1G>A	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV001334847]	Chr6:30922705 [GRCh38] Chr6:30890482 [GRCh37] Chr6:6p21.33	pathogenic
NM_020442.6(VARS2):c.3092T>G (p.Leu1031Arg)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV001334853]\|Inborn genetic diseases [RCV002546702]\|not provided [RCV001871863]	Chr6:30926110 [GRCh38] Chr6:30893887 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.736T>C (p.Cys246Arg)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV001334854]\|not provided [RCV002546703]	Chr6:30916942 [GRCh38] Chr6:30884719 [GRCh37] Chr6:6p21.33	likely benign\|uncertain significance
NM_020442.6(VARS2):c.1270_1271insA (p.Ser424fs)	insertion	Combined oxidative phosphorylation deficiency 20 [RCV001330429]	Chr6:30920193..30920194 [GRCh38] Chr6:30887970..30887971 [GRCh37] Chr6:6p21.33	pathogenic
NM_020442.6(VARS2):c.3005G>A (p.Arg1002Gln)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV001330432]\|not provided [RCV001576779]	Chr6:30925923 [GRCh38] Chr6:30893700 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.142C>G (p.Gln48Glu)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV001334848]\|Inborn genetic diseases [RCV003263971]	Chr6:30914978 [GRCh38] Chr6:30882755 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.969C>T (p.Pro323=)	single nucleotide variant	not provided [RCV001787561]	Chr6:30917790 [GRCh38] Chr6:30885567 [GRCh37] Chr6:6p21.33	benign\|likely benign
NM_020442.6(VARS2):c.275A>G (p.Glu92Gly)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV001330433]\|not provided [RCV001871812]	Chr6:30915229 [GRCh38] Chr6:30883006 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2684G>A (p.Arg895His)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV001334851]	Chr6:30925284 [GRCh38] Chr6:30893061 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.605G>C (p.Arg202Pro)	single nucleotide variant	not provided [RCV001312049]	Chr6:30916183 [GRCh38] Chr6:30883960 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2501G>A (p.Arg834His)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV001330430]	Chr6:30924388 [GRCh38] Chr6:30892165 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2869_2876dup (p.Leu961fs)	duplication	Combined oxidative phosphorylation defect type 20 [RCV001330431]	Chr6:30925619..30925620 [GRCh38] Chr6:30893396..30893397 [GRCh37] Chr6:6p21.33	likely pathogenic
NM_020442.6(VARS2):c.1954C>T (p.Arg652Trp)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV001334846]\|Inborn genetic diseases [RCV003284213]\|See cases [RCV002252364]\|not provided [RCV003324828]	Chr6:30922471 [GRCh38] Chr6:30890248 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.631C>T (p.Arg211Trp)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV001330434]\|not provided [RCV002261342]	Chr6:30916209 [GRCh38] Chr6:30883986 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2624C>T (p.Pro875Leu)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV001334850]\|Inborn genetic diseases [RCV002546701]\|not provided [RCV001859328]	Chr6:30924511 [GRCh38] Chr6:30892288 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.3004C>T (p.Arg1002Ter)	single nucleotide variant	not provided [RCV001893955]	Chr6:30925922 [GRCh38] Chr6:30893699 [GRCh37] Chr6:6p21.33	pathogenic
NM_020442.6(VARS2):c.1933-32A>G	single nucleotide variant	not provided [RCV001616886]	Chr6:30922418 [GRCh38] Chr6:30890195 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.1484T>G (p.Val495Gly)	single nucleotide variant	Inborn genetic diseases [RCV003346587]\|not provided [RCV001509265]	Chr6:30921069 [GRCh38] Chr6:30888846 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.201+42A>G	single nucleotide variant	not provided [RCV001653385]	Chr6:30915079 [GRCh38] Chr6:30882856 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.-28+156C>T	single nucleotide variant	not provided [RCV001684413]	Chr6:30914500 [GRCh38] Chr6:30882277 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.671+227G>A	single nucleotide variant	not provided [RCV001671252]	Chr6:30916476 [GRCh38] Chr6:30884253 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.2185+36G>A	single nucleotide variant	not provided [RCV001686308]	Chr6:30923012 [GRCh38] Chr6:30890789 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.-28+89C>T	single nucleotide variant	Inborn genetic diseases [RCV003161155]\|not provided [RCV001665385]	Chr6:30914433 [GRCh38] Chr6:30882210 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1933-21T>C	single nucleotide variant	not provided [RCV001650292]	Chr6:30922429 [GRCh38] Chr6:30890206 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.2785+64C>G	single nucleotide variant	not provided [RCV001715702]	Chr6:30925449 [GRCh38] Chr6:30893226 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.671+174G>A	single nucleotide variant	not provided [RCV001708441]	Chr6:30916423 [GRCh38] Chr6:30884200 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.985+56A>G	single nucleotide variant	not provided [RCV001612037]	Chr6:30917862 [GRCh38] Chr6:30885639 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.671+232TA[12]	microsatellite	not provided [RCV001587631]	Chr6:30916480..30916481 [GRCh38] Chr6:30884257..30884258 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1075-70C>T	single nucleotide variant	not provided [RCV001583454]	Chr6:30919688 [GRCh38] Chr6:30887465 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.3090+46G>A	single nucleotide variant	not provided [RCV001717045]	Chr6:30926054 [GRCh38] Chr6:30893831 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.1661G>A (p.Arg554Gln)	single nucleotide variant	not provided [RCV001509266]	Chr6:30921617 [GRCh38] Chr6:30889394 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1557-18C>T	single nucleotide variant	not provided [RCV001478052]	Chr6:30921212 [GRCh38] Chr6:30888989 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.2107-22CTT[2]	microsatellite	not provided [RCV001519044]	Chr6:30922876..30922878 [GRCh38] Chr6:30890653..30890655 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.1058A>C (p.Asp353Ala)	single nucleotide variant	not provided [RCV001727351]	Chr6:30918899 [GRCh38] Chr6:30886676 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2037G>T (p.Gln679His)	single nucleotide variant	not provided [RCV001763262]	Chr6:30922554 [GRCh38] Chr6:30890331 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.451T>C (p.Ser151Pro)	single nucleotide variant	not provided [RCV001787607]	Chr6:30915812 [GRCh38] Chr6:30883589 [GRCh37] Chr6:6p21.33	conflicting interpretations of pathogenicity\|uncertain significance
NM_020442.6(VARS2):c.2061C>T (p.Ser687=)	single nucleotide variant	not provided [RCV001733149]	Chr6:30922729 [GRCh38] Chr6:30890506 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.482C>G (p.Ala161Gly)	single nucleotide variant	not provided [RCV001774401]	Chr6:30915843 [GRCh38] Chr6:30883620 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.679G>A (p.Gly227Arg)	single nucleotide variant	not provided [RCV001754130]	Chr6:30916885 [GRCh38] Chr6:30884662 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1556G>C (p.Gly519Ala)	single nucleotide variant	not provided [RCV001765307]	Chr6:30921141 [GRCh38] Chr6:30888918 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.-18_-12del	deletion	Combined oxidative phosphorylation defect type 20 [RCV001803623]	Chr6:30914817..30914823 [GRCh38] Chr6:30882594..30882600 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1933-4C>T	single nucleotide variant	not provided [RCV001732969]	Chr6:30922446 [GRCh38] Chr6:30890223 [GRCh37] Chr6:6p21.33	benign\|likely benign
NC_000006.11:g.28005012_31683185del	deletion	Megacolon [RCV001290055]	Chr6:28005012..31683185 [GRCh37] Chr6:6p22.1-21.33	likely pathogenic
NM_020442.6(VARS2):c.1806+44G>T	single nucleotide variant	not provided [RCV001733283]	Chr6:30922039 [GRCh38] Chr6:30889816 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.2692G>T (p.Glu898Ter)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV001808112]	Chr6:30925292 [GRCh38] Chr6:30893069 [GRCh37] Chr6:6p21.33	likely pathogenic
NM_020442.6(VARS2):c.2752G>C (p.Ala918Pro)	single nucleotide variant	not provided [RCV001864106]	Chr6:30925352 [GRCh38] Chr6:30893129 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1969C>T (p.Arg657Trp)	single nucleotide variant	not provided [RCV001896482]	Chr6:30922486 [GRCh38] Chr6:30890263 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2749C>T (p.Arg917Ter)	single nucleotide variant	not provided [RCV001914078]	Chr6:30925349 [GRCh38] Chr6:30893126 [GRCh37] Chr6:6p21.33	pathogenic
NM_020442.6(VARS2):c.1396A>G (p.Ser466Gly)	single nucleotide variant	not provided [RCV002045014]	Chr6:30920435 [GRCh38] Chr6:30888212 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2683C>T (p.Arg895Cys)	single nucleotide variant	Inborn genetic diseases [RCV002562031]\|not provided [RCV001948505]	Chr6:30925283 [GRCh38] Chr6:30893060 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1163C>T (p.Thr388Met)	single nucleotide variant	Inborn genetic diseases [RCV002550405]\|not provided [RCV001947516]	Chr6:30919846 [GRCh38] Chr6:30887623 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1183C>G (p.Pro395Ala)	single nucleotide variant	not provided [RCV001847442]	Chr6:30920106 [GRCh38] Chr6:30887883 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1120C>T (p.Leu374Phe)	single nucleotide variant	not provided [RCV002021069]	Chr6:30919803 [GRCh38] Chr6:30887580 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1167G>T (p.Gly389=)	single nucleotide variant	not provided [RCV001985525]	Chr6:30920090 [GRCh38] Chr6:30887867 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.614G>C (p.Arg205Thr)	single nucleotide variant	not provided [RCV001912567]	Chr6:30916192 [GRCh38] Chr6:30883969 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2495C>T (p.Ser832Leu)	single nucleotide variant	Inborn genetic diseases [RCV002552217]\|not provided [RCV001912148]	Chr6:30924382 [GRCh38] Chr6:30892159 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.251A>G (p.Tyr84Cys)	single nucleotide variant	not provided [RCV001969485]	Chr6:30915205 [GRCh38] Chr6:30882982 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.863C>T (p.Ser288Leu)	single nucleotide variant	not provided [RCV001894007]	Chr6:30917214 [GRCh38] Chr6:30884991 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1735+1G>T	single nucleotide variant	not provided [RCV001843659]	Chr6:30921692 [GRCh38] Chr6:30889469 [GRCh37] Chr6:6p21.33	likely pathogenic
NM_020442.6(VARS2):c.263C>T (p.Thr88Met)	single nucleotide variant	not provided [RCV001909178]	Chr6:30915217 [GRCh38] Chr6:30882994 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1625A>G (p.His542Arg)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV001837242]	Chr6:30921298 [GRCh38] Chr6:30889075 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2467G>A (p.Glu823Lys)	single nucleotide variant	not provided [RCV001961987]	Chr6:30924354 [GRCh38] Chr6:30892131 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2375A>G (p.Glu792Gly)	single nucleotide variant	Inborn genetic diseases [RCV002560664]\|not provided [RCV001931399]	Chr6:30923414 [GRCh38] Chr6:30891191 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.-28+87C>T	single nucleotide variant	not provided [RCV001923382]	Chr6:30914431 [GRCh38] Chr6:30882208 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2902C>A (p.Pro968Thr)	single nucleotide variant	not provided [RCV002030829]	Chr6:30925660 [GRCh38] Chr6:30893437 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2721A>T (p.Gln907His)	single nucleotide variant	not provided [RCV001877562]	Chr6:30925321 [GRCh38] Chr6:30893098 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2831C>G (p.Ala944Gly)	single nucleotide variant	Inborn genetic diseases [RCV002642097]\|not provided [RCV002013068]	Chr6:30925589 [GRCh38] Chr6:30893366 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.814C>T (p.Arg272Trp)	single nucleotide variant	not provided [RCV001922652]	Chr6:30917165 [GRCh38] Chr6:30884942 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2429A>G (p.His810Arg)	single nucleotide variant	not provided [RCV001990489]	Chr6:30923468 [GRCh38] Chr6:30891245 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2498C>T (p.Pro833Leu)	single nucleotide variant	not provided [RCV001992158]	Chr6:30924385 [GRCh38] Chr6:30892162 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1851G>A (p.Thr617=)	single nucleotide variant	not provided [RCV001958111]	Chr6:30922160 [GRCh38] Chr6:30889937 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2963G>T (p.Gly988Val)	single nucleotide variant	not provided [RCV001878945]	Chr6:30925881 [GRCh38] Chr6:30893658 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.12_13delinsTT (p.Leu4_Pro5delinsPheSer)	indel	not provided [RCV001971803]	Chr6:30914848..30914849 [GRCh38] Chr6:30882625..30882626 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1084G>A (p.Gly362Arg)	single nucleotide variant	not provided [RCV001957335]	Chr6:30919767 [GRCh38] Chr6:30887544 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1201G>A (p.Asp401Asn)	single nucleotide variant	not provided [RCV002018127]	Chr6:30920124 [GRCh38] Chr6:30887901 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1048G>A (p.Val350Ile)	single nucleotide variant	not provided [RCV001989492]	Chr6:30918889 [GRCh38] Chr6:30886666 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2354G>A (p.Arg785His)	single nucleotide variant	not provided [RCV001923841]	Chr6:30923393 [GRCh38] Chr6:30891170 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2353C>T (p.Arg785Cys)	single nucleotide variant	not provided [RCV001940241]	Chr6:30923392 [GRCh38] Chr6:30891169 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.3031G>C (p.Asp1011His)	single nucleotide variant	Inborn genetic diseases [RCV003348756]\|not provided [RCV002016099]	Chr6:30925949 [GRCh38] Chr6:30893726 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.715T>C (p.Ser239Pro)	single nucleotide variant	not provided [RCV001933008]	Chr6:30916921 [GRCh38] Chr6:30884698 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1556+1G>A	single nucleotide variant	not provided [RCV001998954]	Chr6:30921142 [GRCh38] Chr6:30888919 [GRCh37] Chr6:6p21.33	likely pathogenic
NM_020442.6(VARS2):c.2036A>G (p.Gln679Arg)	single nucleotide variant	not provided [RCV001921424]	Chr6:30922553 [GRCh38] Chr6:30890330 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.295C>T (p.Pro99Ser)	single nucleotide variant	not provided [RCV002009902]	Chr6:30915366 [GRCh38] Chr6:30883143 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1447C>T (p.Arg483Cys)	single nucleotide variant	not provided [RCV001972196]	Chr6:30920717 [GRCh38] Chr6:30888494 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2108A>G (p.Lys703Arg)	single nucleotide variant	not provided [RCV001867499]	Chr6:30922899 [GRCh38] Chr6:30890676 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2545G>A (p.Gly849Ser)	single nucleotide variant	not provided [RCV001974281]	Chr6:30924432 [GRCh38] Chr6:30892209 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.3053del (p.Pro1018fs)	deletion	not provided [RCV001879632]	Chr6:30925968 [GRCh38] Chr6:30893745 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2535C>T (p.Cys845=)	single nucleotide variant	not provided [RCV002085849]	Chr6:30924422 [GRCh38] Chr6:30892199 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.69C>G (p.Pro23=)	single nucleotide variant	not provided [RCV002112287]	Chr6:30914905 [GRCh38] Chr6:30882682 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.2325C>T (p.Ser775=)	single nucleotide variant	not provided [RCV002206776]	Chr6:30923364 [GRCh38] Chr6:30891141 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.753+19G>C	single nucleotide variant	not provided [RCV002209770]	Chr6:30916978 [GRCh38] Chr6:30884755 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.18C>T (p.Leu6=)	single nucleotide variant	not provided [RCV002106705]	Chr6:30914854 [GRCh38] Chr6:30882631 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.2292_2295delinsACCT (p.Phe764_Val765delinsLeuPro)	indel	not provided [RCV002245115]	Chr6:30923210..30923213 [GRCh38] Chr6:30890987..30890990 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2322C>G (p.Pro774=)	single nucleotide variant	not provided [RCV002097299]	Chr6:30923361 [GRCh38] Chr6:30891138 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.574-7A>C	single nucleotide variant	not provided [RCV002086363]	Chr6:30916145 [GRCh38] Chr6:30883922 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1166-6C>T	single nucleotide variant	not provided [RCV002076847]	Chr6:30920083 [GRCh38] Chr6:30887860 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1736-19T>C	single nucleotide variant	not provided [RCV002134382]	Chr6:30921906 [GRCh38] Chr6:30889683 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.789G>T (p.Arg263=)	single nucleotide variant	not provided [RCV002212749]	Chr6:30917140 [GRCh38] Chr6:30884917 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.873+7C>T	single nucleotide variant	not provided [RCV002165626]	Chr6:30917231 [GRCh38] Chr6:30885008 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.495C>T (p.Ala165=)	single nucleotide variant	not provided [RCV002196395]	Chr6:30915856 [GRCh38] Chr6:30883633 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.2704C>T (p.Arg902Cys)	single nucleotide variant	not provided [RCV002124820]	Chr6:30925304 [GRCh38] Chr6:30893081 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.912A>G (p.Arg304=)	single nucleotide variant	not provided [RCV002152759]	Chr6:30917733 [GRCh38] Chr6:30885510 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1736-12T>C	single nucleotide variant	not provided [RCV002149781]	Chr6:30921913 [GRCh38] Chr6:30889690 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.2790G>A (p.Leu930=)	single nucleotide variant	not provided [RCV002214381]	Chr6:30925548 [GRCh38] Chr6:30893325 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.570A>G (p.Thr190=)	single nucleotide variant	not provided [RCV002095087]	Chr6:30916044 [GRCh38] Chr6:30883821 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.1629G>A (p.Ala543=)	single nucleotide variant	not provided [RCV002127287]	Chr6:30921302 [GRCh38] Chr6:30889079 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.2980A>G (p.Ile994Val)	single nucleotide variant	not provided [RCV002136249]	Chr6:30925898 [GRCh38] Chr6:30893675 [GRCh37] Chr6:6p21.33	likely benign\|conflicting interpretations of pathogenicity
NM_020442.6(VARS2):c.2038-14C>A	single nucleotide variant	not provided [RCV002163048]	Chr6:30922692 [GRCh38] Chr6:30890469 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.2314-13C>T	single nucleotide variant	not provided [RCV002142918]	Chr6:30923340 [GRCh38] Chr6:30891117 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1653G>A (p.Val551=)	single nucleotide variant	not provided [RCV002161809]	Chr6:30921609 [GRCh38] Chr6:30889386 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1066C>A (p.Arg356=)	single nucleotide variant	not provided [RCV002178463]	Chr6:30918907 [GRCh38] Chr6:30886684 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.573+13T>C	single nucleotide variant	not provided [RCV002161601]	Chr6:30916060 [GRCh38] Chr6:30883837 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1074+9C>T	single nucleotide variant	not provided [RCV002142048]	Chr6:30918924 [GRCh38] Chr6:30886701 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1166-5C>A	single nucleotide variant	not provided [RCV002136815]	Chr6:30920084 [GRCh38] Chr6:30887861 [GRCh37] Chr6:6p21.33	benign
NM_020442.6(VARS2):c.3041C>G (p.Thr1014Arg)	single nucleotide variant	Inborn genetic diseases [RCV003274324]\|not provided [RCV003115339]	Chr6:30925959 [GRCh38] Chr6:30893736 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2889A>G (p.Pro963=)	single nucleotide variant	not provided [RCV003115969]	Chr6:30925647 [GRCh38] Chr6:30893424 [GRCh37] Chr6:6p21.33	likely benign
NC_000006.11:g.(?_30695893)_(36953949_?)dup	duplication	Proteasome-associated autoinflammatory syndrome 1 [RCV003113679]	Chr6:30695893..36953949 [GRCh37] Chr6:6p21.33-21.2	uncertain significance
NM_020442.6(VARS2):c.2661C>T (p.Ser887=)	single nucleotide variant	not provided [RCV003117232]	Chr6:30924548 [GRCh38] Chr6:30892325 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1925T>A (p.Phe642Tyr)	single nucleotide variant	not provided [RCV003112907]	Chr6:30922234 [GRCh38] Chr6:30890011 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1373A>G (p.His458Arg)	single nucleotide variant	not provided [RCV003156515]	Chr6:30920412 [GRCh38] Chr6:30888189 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.3044C>T (p.Ala1015Val)	single nucleotide variant	not provided [RCV003129259]	Chr6:30925962 [GRCh38] Chr6:30893739 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2558T>C (p.Leu853Pro)	single nucleotide variant	not provided [RCV003129450]	Chr6:30924445 [GRCh38] Chr6:30892222 [GRCh37] Chr6:6p21.33	uncertain significance
Single allele	duplication	not provided [RCV002227787]	Chr6:30888982..31005512 [GRCh38] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.503G>A (p.Arg168His)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV002251191]\|not provided [RCV003094085]	Chr6:30915864 [GRCh38] Chr6:30883641 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.787C>T (p.Arg263Trp)	single nucleotide variant	Inborn genetic diseases [RCV003094091]\|not provided [RCV002251609]	Chr6:30917138 [GRCh38] Chr6:30884915 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1583G>A (p.Trp528Ter)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV002288233]	Chr6:30921256 [GRCh38] Chr6:30889033 [GRCh37] Chr6:6p21.33	likely pathogenic
NM_020442.6(VARS2):c.1955G>A (p.Arg652Gln)	single nucleotide variant	not provided [RCV002261776]	Chr6:30922472 [GRCh38] Chr6:30890249 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.502C>T (p.Arg168Cys)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV002288401]\|not provided [RCV003232585]	Chr6:30915863 [GRCh38] Chr6:30883640 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1496C>G (p.Ala499Gly)	single nucleotide variant	Inborn genetic diseases [RCV003096061]\|not provided [RCV002267268]	Chr6:30921081 [GRCh38] Chr6:30888858 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1487A>G (p.Glu496Gly)	single nucleotide variant	not provided [RCV002273443]	Chr6:30921072 [GRCh38] Chr6:30888849 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2062G>A (p.Gly688Arg)	single nucleotide variant	Inborn genetic diseases [RCV003264644]	Chr6:30922730 [GRCh38] Chr6:30890507 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2713C>T (p.Arg905Trp)	single nucleotide variant	not provided [RCV002771355]	Chr6:30925313 [GRCh38] Chr6:30893090 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1066C>T (p.Arg356Ter)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV002472145]	Chr6:30918907 [GRCh38] Chr6:30886684 [GRCh37] Chr6:6p21.33	likely pathogenic
NM_020442.6(VARS2):c.1087C>T (p.Arg363Ter)	single nucleotide variant	not provided [RCV002464821]	Chr6:30919770 [GRCh38] Chr6:30887547 [GRCh37] Chr6:6p21.33	likely pathogenic
NM_020442.6(VARS2):c.1908C>T (p.Leu636=)	single nucleotide variant	not provided [RCV002616202]	Chr6:30922217 [GRCh38] Chr6:30889994 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.2728G>A (p.Val910Met)	single nucleotide variant	Inborn genetic diseases [RCV002685036]	Chr6:30925328 [GRCh38] Chr6:30893105 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2186C>T (p.Ala729Val)	single nucleotide variant	not provided [RCV002751428]	Chr6:30923104 [GRCh38] Chr6:30890881 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2664C>T (p.Ala888=)	single nucleotide variant	not provided [RCV002730207]	Chr6:30924551 [GRCh38] Chr6:30892328 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.604C>T (p.Arg202Trp)	single nucleotide variant	Inborn genetic diseases [RCV002974715]	Chr6:30916182 [GRCh38] Chr6:30883959 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2536G>A (p.Ala846Thr)	single nucleotide variant	not provided [RCV002994627]	Chr6:30924423 [GRCh38] Chr6:30892200 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2819G>T (p.Gly940Val)	single nucleotide variant	not provided [RCV002686133]	Chr6:30925577 [GRCh38] Chr6:30893354 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2023G>C (p.Gly675Arg)	single nucleotide variant	not provided [RCV002618702]	Chr6:30922540 [GRCh38] Chr6:30890317 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.733G>A (p.Glu245Lys)	single nucleotide variant	not provided [RCV002908378]	Chr6:30916939 [GRCh38] Chr6:30884716 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.641T>G (p.Phe214Cys)	single nucleotide variant	not provided [RCV002843189]	Chr6:30916219 [GRCh38] Chr6:30883996 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1790T>C (p.Leu597Pro)	single nucleotide variant	not provided [RCV002726765]	Chr6:30921979 [GRCh38] Chr6:30889756 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2609C>A (p.Pro870His)	single nucleotide variant	Inborn genetic diseases [RCV002864964]	Chr6:30924496 [GRCh38] Chr6:30892273 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.469G>A (p.Ala157Thr)	single nucleotide variant	Inborn genetic diseases [RCV002779899]	Chr6:30915830 [GRCh38] Chr6:30883607 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.906G>T (p.Gln302His)	single nucleotide variant	not provided [RCV002730481]	Chr6:30917727 [GRCh38] Chr6:30885504 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2413G>A (p.Val805Ile)	single nucleotide variant	not provided [RCV002947646]	Chr6:30923452 [GRCh38] Chr6:30891229 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1684G>A (p.Val562Ile)	single nucleotide variant	not provided [RCV003032322]	Chr6:30921640 [GRCh38] Chr6:30889417 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.-28+114G>T	single nucleotide variant	Inborn genetic diseases [RCV002973535]	Chr6:30914458 [GRCh38] Chr6:30882235 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1822C>T (p.Arg608Cys)	single nucleotide variant	not provided [RCV002971047]	Chr6:30922131 [GRCh38] Chr6:30889908 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2544C>T (p.Leu848=)	single nucleotide variant	not provided [RCV002614017]	Chr6:30924431 [GRCh38] Chr6:30892208 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.2378G>A (p.Cys793Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002617533]\|not provided [RCV002621623]	Chr6:30923417 [GRCh38] Chr6:30891194 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2604G>A (p.Leu868=)	single nucleotide variant	not provided [RCV002776246]	Chr6:30924491 [GRCh38] Chr6:30892268 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.986-10T>C	single nucleotide variant	not provided [RCV002616060]	Chr6:30918817 [GRCh38] Chr6:30886594 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1886T>C (p.Met629Thr)	single nucleotide variant	not provided [RCV002995139]	Chr6:30922195 [GRCh38] Chr6:30889972 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.3090+2T>A	single nucleotide variant	not provided [RCV003152261]	Chr6:30926010 [GRCh38] Chr6:30893787 [GRCh37] Chr6:6p21.33	likely pathogenic
NM_020442.6(VARS2):c.883C>T (p.Arg295Trp)	single nucleotide variant	Inborn genetic diseases [RCV002778086]	Chr6:30917704 [GRCh38] Chr6:30885481 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1466C>A (p.Ala489Asp)	single nucleotide variant	not provided [RCV003016416]	Chr6:30920736 [GRCh38] Chr6:30888513 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2008A>G (p.Arg670Gly)	single nucleotide variant	not provided [RCV002618098]	Chr6:30922525 [GRCh38] Chr6:30890302 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2662G>T (p.Ala888Ser)	single nucleotide variant	not provided [RCV002681477]	Chr6:30924549 [GRCh38] Chr6:30892326 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1700C>T (p.Thr567Ile)	single nucleotide variant	Inborn genetic diseases [RCV002574910]\|not provided [RCV002571818]	Chr6:30921656 [GRCh38] Chr6:30889433 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1074+14C>T	single nucleotide variant	not provided [RCV002593461]	Chr6:30918929 [GRCh38] Chr6:30886706 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2481C>T (p.Pro827=)	single nucleotide variant	not provided [RCV002623238]	Chr6:30924368 [GRCh38] Chr6:30892145 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.2261G>A (p.Arg754His)	single nucleotide variant	Inborn genetic diseases [RCV002781498]\|not provided [RCV002781497]	Chr6:30923179 [GRCh38] Chr6:30890956 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.574-7A>T	single nucleotide variant	not provided [RCV002800113]	Chr6:30916145 [GRCh38] Chr6:30883922 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1165+3G>A	single nucleotide variant	not provided [RCV002928034]	Chr6:30919851 [GRCh38] Chr6:30887628 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.961G>C (p.Ala321Pro)	single nucleotide variant	not provided [RCV002825251]	Chr6:30917782 [GRCh38] Chr6:30885559 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.869T>C (p.Ile290Thr)	single nucleotide variant	Inborn genetic diseases [RCV002800419]\|not provided [RCV002800418]	Chr6:30917220 [GRCh38] Chr6:30884997 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.815G>A (p.Arg272Gln)	single nucleotide variant	Inborn genetic diseases [RCV002950076]	Chr6:30917166 [GRCh38] Chr6:30884943 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2224T>G (p.Cys742Gly)	single nucleotide variant	not provided [RCV003000109]	Chr6:30923142 [GRCh38] Chr6:30890919 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.383A>G (p.Gln128Arg)	single nucleotide variant	not provided [RCV003052955]	Chr6:30915454 [GRCh38] Chr6:30883231 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.2961+10G>A	single nucleotide variant	not provided [RCV002736250]	Chr6:30925729 [GRCh38] Chr6:30893506 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1097G>A (p.Arg366His)	single nucleotide variant	Inborn genetic diseases [RCV002660774]	Chr6:30919780 [GRCh38] Chr6:30887557 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.388C>T (p.Arg130Trp)	single nucleotide variant	not provided [RCV002619180]	Chr6:30915749 [GRCh38] Chr6:30883526 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.14C>A (p.Pro5His)	single nucleotide variant	Inborn genetic diseases [RCV002888608]	Chr6:30914850 [GRCh38] Chr6:30882627 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.582G>A (p.Val194=)	single nucleotide variant	not provided [RCV002639404]	Chr6:30916160 [GRCh38] Chr6:30883937 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.304C>T (p.Pro102Ser)	single nucleotide variant	Inborn genetic diseases [RCV002799799]	Chr6:30915375 [GRCh38] Chr6:30883152 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.614G>A (p.Arg205Lys)	single nucleotide variant	not provided [RCV002979451]	Chr6:30916192 [GRCh38] Chr6:30883969 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2553C>T (p.Arg851=)	single nucleotide variant	not provided [RCV002705292]	Chr6:30924440 [GRCh38] Chr6:30892217 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.344C>G (p.Pro115Arg)	single nucleotide variant	Inborn genetic diseases [RCV002783678]	Chr6:30915415 [GRCh38] Chr6:30883192 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1736-11C>T	single nucleotide variant	not provided [RCV002662465]	Chr6:30921914 [GRCh38] Chr6:30889691 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1219C>T (p.Arg407Ter)	single nucleotide variant	Inborn genetic diseases [RCV002821789]	Chr6:30920142 [GRCh38] Chr6:30887919 [GRCh37] Chr6:6p21.33	pathogenic
NM_020442.6(VARS2):c.1469G>A (p.Arg490Gln)	single nucleotide variant	Inborn genetic diseases [RCV002803073]	Chr6:30920739 [GRCh38] Chr6:30888516 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1294-17T>C	single nucleotide variant	not provided [RCV002876093]	Chr6:30920316 [GRCh38] Chr6:30888093 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.2643G>A (p.Ser881=)	single nucleotide variant	not provided [RCV002575261]	Chr6:30924530 [GRCh38] Chr6:30892307 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.800C>T (p.Ala267Val)	single nucleotide variant	Inborn genetic diseases [RCV002699593]	Chr6:30917151 [GRCh38] Chr6:30884928 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1807-14C>T	single nucleotide variant	not provided [RCV002791399]	Chr6:30922102 [GRCh38] Chr6:30889879 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1436A>G (p.Gln479Arg)	single nucleotide variant	not provided [RCV002667167]	Chr6:30920706 [GRCh38] Chr6:30888483 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.766G>T (p.Ala256Ser)	single nucleotide variant	not provided [RCV003059658]	Chr6:30917117 [GRCh38] Chr6:30884894 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1615G>A (p.Val539Ile)	single nucleotide variant	Inborn genetic diseases [RCV002712241]	Chr6:30921288 [GRCh38] Chr6:30889065 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2383C>T (p.Arg795Trp)	single nucleotide variant	not provided [RCV002643037]	Chr6:30923422 [GRCh38] Chr6:30891199 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2046G>C (p.Gln682His)	single nucleotide variant	Inborn genetic diseases [RCV002641417]	Chr6:30922714 [GRCh38] Chr6:30890491 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1022C>T (p.Thr341Met)	single nucleotide variant	not provided [RCV002928194]	Chr6:30918863 [GRCh38] Chr6:30886640 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.801G>A (p.Ala267=)	single nucleotide variant	not provided [RCV002982217]	Chr6:30917152 [GRCh38] Chr6:30884929 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.685A>T (p.Ile229Phe)	single nucleotide variant	not provided [RCV003084020]	Chr6:30916891 [GRCh38] Chr6:30884668 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1376C>T (p.Pro459Leu)	single nucleotide variant	not provided [RCV002918332]	Chr6:30920415 [GRCh38] Chr6:30888192 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1909A>G (p.Thr637Ala)	single nucleotide variant	not provided [RCV002914562]	Chr6:30922218 [GRCh38] Chr6:30889995 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.81C>T (p.Ser27=)	single nucleotide variant	not provided [RCV002711567]	Chr6:30914917 [GRCh38] Chr6:30882694 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.355C>A (p.Arg119=)	single nucleotide variant	not provided [RCV002701557]	Chr6:30915426 [GRCh38] Chr6:30883203 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.2936C>T (p.Thr979Met)	single nucleotide variant	not provided [RCV002643330]	Chr6:30925694 [GRCh38] Chr6:30893471 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1149G>A (p.Gln383=)	single nucleotide variant	not provided [RCV002644001]	Chr6:30919832 [GRCh38] Chr6:30887609 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.2260C>T (p.Arg754Cys)	single nucleotide variant	not provided [RCV002958013]	Chr6:30923178 [GRCh38] Chr6:30890955 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1064C>T (p.Ser355Leu)	single nucleotide variant	Inborn genetic diseases [RCV002764938]	Chr6:30918905 [GRCh38] Chr6:30886682 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2886C>T (p.Pro962=)	single nucleotide variant	not provided [RCV003023878]	Chr6:30925644 [GRCh38] Chr6:30893421 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1164G>A (p.Thr388=)	single nucleotide variant	not provided [RCV002601655]	Chr6:30919847 [GRCh38] Chr6:30887624 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1615G>C (p.Val539Leu)	single nucleotide variant	Inborn genetic diseases [RCV003294448]\|not provided [RCV003065290]	Chr6:30921288 [GRCh38] Chr6:30889065 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1596G>T (p.Gln532His)	single nucleotide variant	Inborn genetic diseases [RCV002812431]	Chr6:30921269 [GRCh38] Chr6:30889046 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2185+19T>G	single nucleotide variant	not provided [RCV002581422]	Chr6:30922995 [GRCh38] Chr6:30890772 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.2783G>A (p.Arg928Gln)	single nucleotide variant	not provided [RCV003061081]	Chr6:30925383 [GRCh38] Chr6:30893160 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.671+18G>T	single nucleotide variant	not provided [RCV002580590]	Chr6:30916267 [GRCh38] Chr6:30884044 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.934G>A (p.Val312Met)	single nucleotide variant	not provided [RCV002937352]	Chr6:30917755 [GRCh38] Chr6:30885532 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2186-2A>G	single nucleotide variant	not provided [RCV002857356]	Chr6:30923102 [GRCh38] Chr6:30890879 [GRCh37] Chr6:6p21.33	likely pathogenic
NM_020442.6(VARS2):c.1490C>T (p.Ser497Leu)	single nucleotide variant	Inborn genetic diseases [RCV003164773]\|not provided [RCV002579741]	Chr6:30921075 [GRCh38] Chr6:30888852 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2608C>T (p.Pro870Ser)	single nucleotide variant	not provided [RCV002646947]	Chr6:30924495 [GRCh38] Chr6:30892272 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.202-19T>C	single nucleotide variant	not provided [RCV002577645]	Chr6:30915137 [GRCh38] Chr6:30882914 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.389G>A (p.Arg130Gln)	single nucleotide variant	not provided [RCV002597425]	Chr6:30915750 [GRCh38] Chr6:30883527 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1257T>C (p.Asp419=)	single nucleotide variant	not provided [RCV002577001]	Chr6:30920180 [GRCh38] Chr6:30887957 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.2701C>T (p.Arg901Trp)	single nucleotide variant	Inborn genetic diseases [RCV002718084]	Chr6:30925301 [GRCh38] Chr6:30893078 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2776C>T (p.Arg926Trp)	single nucleotide variant	Inborn genetic diseases [RCV002989700]	Chr6:30925376 [GRCh38] Chr6:30893153 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1512C>T (p.Pro504=)	single nucleotide variant	not provided [RCV002646450]	Chr6:30921097 [GRCh38] Chr6:30888874 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.2757G>A (p.Thr919=)	single nucleotide variant	not provided [RCV002576670]	Chr6:30925357 [GRCh38] Chr6:30893134 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1372C>T (p.His458Tyr)	single nucleotide variant	not provided [RCV003062099]	Chr6:30920411 [GRCh38] Chr6:30888188 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.636G>A (p.Glu212=)	single nucleotide variant	not provided [RCV002967008]	Chr6:30916214 [GRCh38] Chr6:30883991 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1646G>A (p.Cys549Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002579889]\|not provided [RCV002577328]	Chr6:30921602 [GRCh38] Chr6:30889379 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.3170C>A (p.Ala1057Asp)	single nucleotide variant	Inborn genetic diseases [RCV002672577]	Chr6:30926188 [GRCh38] Chr6:30893965 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.755G>A (p.Gly252Asp)	single nucleotide variant	not provided [RCV002605136]	Chr6:30917106 [GRCh38] Chr6:30884883 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.109T>C (p.Ser37Pro)	single nucleotide variant	not provided [RCV002725878]	Chr6:30914945 [GRCh38] Chr6:30882722 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.985+17G>T	single nucleotide variant	not provided [RCV002658041]	Chr6:30917823 [GRCh38] Chr6:30885600 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1096C>T (p.Arg366Cys)	single nucleotide variant	not provided [RCV002725611]	Chr6:30919779 [GRCh38] Chr6:30887556 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.202-4T>C	single nucleotide variant	not provided [RCV002585733]	Chr6:30915152 [GRCh38] Chr6:30882929 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.182A>C (p.Glu61Ala)	single nucleotide variant	not provided [RCV002607390]	Chr6:30915018 [GRCh38] Chr6:30882795 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1278C>T (p.Cys426=)	single nucleotide variant	not provided [RCV002589408]	Chr6:30920201 [GRCh38] Chr6:30887978 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.955T>C (p.Ser319Pro)	single nucleotide variant	not provided [RCV002608795]	Chr6:30917776 [GRCh38] Chr6:30885553 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1633-16C>T	single nucleotide variant	not provided [RCV002635711]	Chr6:30921573 [GRCh38] Chr6:30889350 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1632+18C>A	single nucleotide variant	not provided [RCV002658032]	Chr6:30921323 [GRCh38] Chr6:30889100 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.573+7_573+13dup	duplication	not provided [RCV002943916]	Chr6:30916050..30916051 [GRCh38] Chr6:30883827..30883828 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.477G>A (p.Thr159=)	single nucleotide variant	not provided [RCV002589052]	Chr6:30915838 [GRCh38] Chr6:30883615 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.1563G>A (p.Trp521Ter)	single nucleotide variant	not provided [RCV002658232]	Chr6:30921236 [GRCh38] Chr6:30889013 [GRCh37] Chr6:6p21.33	pathogenic
NM_020442.6(VARS2):c.2702G>A (p.Arg901Gln)	single nucleotide variant	Inborn genetic diseases [RCV002655320]	Chr6:30925302 [GRCh38] Chr6:30893079 [GRCh37] Chr6:6p21.33	likely benign
NM_020442.6(VARS2):c.2677C>T (p.His893Tyr)	single nucleotide variant	not provided [RCV003068908]	Chr6:30925277 [GRCh38] Chr6:30893054 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2908G>A (p.Gly970Ser)	single nucleotide variant	not provided [RCV003229242]	Chr6:30925666 [GRCh38] Chr6:30893443 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1063T>C (p.Ser355Pro)	single nucleotide variant	Inborn genetic diseases [RCV003210730]	Chr6:30918904 [GRCh38] Chr6:30886681 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.859A>G (p.Ile287Val)	single nucleotide variant	Inborn genetic diseases [RCV003201571]	Chr6:30917210 [GRCh38] Chr6:30884987 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2006C>A (p.Pro669Gln)	single nucleotide variant	Inborn genetic diseases [RCV003203872]	Chr6:30922523 [GRCh38] Chr6:30890300 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.251A>T (p.Tyr84Phe)	single nucleotide variant	Inborn genetic diseases [RCV003214861]	Chr6:30915205 [GRCh38] Chr6:30882982 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2563C>G (p.Pro855Ala)	single nucleotide variant	Inborn genetic diseases [RCV003213610]	Chr6:30924450 [GRCh38] Chr6:30892227 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.2257C>T (p.Leu753Phe)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV003139262]	Chr6:30923175 [GRCh38] Chr6:30890952 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1346G>A (p.Trp449Ter)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV003139263]	Chr6:30920385 [GRCh38] Chr6:30888162 [GRCh37] Chr6:6p21.33	conflicting interpretations of pathogenicity\|uncertain significance
NM_020442.6(VARS2):c.3182C>T (p.Pro1061Leu)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV003139264]	Chr6:30926200 [GRCh38] Chr6:30893977 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.1480-2A>G	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV003324208]	Chr6:30921063 [GRCh38] Chr6:30888840 [GRCh37] Chr6:6p21.33	likely pathogenic
NM_020442.6(VARS2):c.3148C>A (p.Gln1050Lys)	single nucleotide variant	not provided [RCV003319141]	Chr6:30926166 [GRCh38] Chr6:30893943 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.671C>T (p.Ala224Val)	single nucleotide variant	not provided [RCV003328737]	Chr6:30916249 [GRCh38] Chr6:30884026 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.420del (p.Met141fs)	deletion	Combined oxidative phosphorylation defect type 20 [RCV003332014]	Chr6:30915780 [GRCh38] Chr6:30883557 [GRCh37] Chr6:6p21.33	pathogenic
NM_020442.6(VARS2):c.413C>A (p.Thr138Asn)	single nucleotide variant	Inborn genetic diseases [RCV003350474]	Chr6:30915774 [GRCh38] Chr6:30883551 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.842G>A (p.Cys281Tyr)	single nucleotide variant	Combined oxidative phosphorylation defect type 20 [RCV003333543]	Chr6:30917193 [GRCh38] Chr6:30884970 [GRCh37] Chr6:6p21.33	uncertain significance
NM_020442.6(VARS2):c.-28+120G>A	single nucleotide variant	Inborn genetic diseases [RCV003383819]	Chr6:30914464 [GRCh38] Chr6:30882241 [GRCh37] Chr6:6p21.33	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	3146
Count of miRNA genes:	793
Interacting mature miRNAs:	930
Transcripts:	ENST00000321897, ENST00000416670, ENST00000421263, ENST00000428017, ENST00000467717, ENST00000469358, ENST00000473916, ENST00000476162, ENST00000477052, ENST00000477288, ENST00000490699, ENST00000541562, ENST00000542001
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

Markers in Region

G54139

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	30,893,764 - 30,894,025	UniSTS	GRCh37
Build 36	6	31,001,743 - 31,002,004	RGD	NCBI36
Celera	6	32,491,876 - 32,492,137	RGD
Cytogenetic Map	6	p21.33	UniSTS
HuRef	6	30,693,864 - 30,694,125	UniSTS

RH123958

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	30,885,353 - 30,885,684	UniSTS	GRCh37
Build 36	6	30,993,332 - 30,993,663	RGD	NCBI36
Celera	6	32,483,448 - 32,483,779	RGD
Cytogenetic Map	6	p21.33	UniSTS
HuRef	6	30,685,438 - 30,685,769	UniSTS
TNG Radiation Hybrid Map	6	16212.0	UniSTS

SHGC-170046

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	30,883,399 - 30,883,687	UniSTS	GRCh37
Build 36	6	30,991,378 - 30,991,666	RGD	NCBI36
Celera	6	32,481,502 - 32,481,790	RGD
Cytogenetic Map	6	p21.33	UniSTS
HuRef	6	30,683,486 - 30,683,774	UniSTS
TNG Radiation Hybrid Map	6	16216.0	UniSTS

D6S2698

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	30,884,120 - 30,884,333	UniSTS	GRCh37
Build 36	6	30,992,099 - 30,992,312	RGD	NCBI36
Celera	6	32,482,215 - 32,482,428	RGD
HuRef	6	30,684,199 - 30,684,418	UniSTS

RH37251

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	30,894,006 - 30,894,158	UniSTS	GRCh37
Build 36	6	31,001,985 - 31,002,137	RGD	NCBI36
Celera	6	32,492,118 - 32,492,270	RGD
Cytogenetic Map	6	p21.33	UniSTS
HuRef	6	30,694,106 - 30,694,258	UniSTS
GeneMap99-GB4 RH Map	6	118.61	UniSTS
NCBI RH Map	6	475.1	UniSTS

D6S1898

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	30,893,975 - 30,894,233	UniSTS	GRCh37
Build 36	6	31,001,954 - 31,002,212	RGD	NCBI36
Celera	6	32,492,087 - 32,492,345	RGD
Cytogenetic Map	6	p21.33	UniSTS
HuRef	6	30,694,075 - 30,694,333	UniSTS
GeneMap99-GB4 RH Map	6	117.86	UniSTS
GeneMap99-GB4 RH Map	6	118.5	UniSTS
Whitehead-RH Map	6	171.4	UniSTS

D6S1168E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	30,893,985 - 30,894,216	UniSTS	GRCh37
Build 36	6	31,001,964 - 31,002,195	RGD	NCBI36
Celera	6	32,492,097 - 32,492,328	RGD
Cytogenetic Map	6	p21.33	UniSTS
HuRef	6	30,694,085 - 30,694,316	UniSTS
GeneMap99-GB4 RH Map	6	117.86	UniSTS

MARC_6551-6552:992007295:1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	30,879,487 - 30,880,195	UniSTS	GRCh37
Build 36	6	30,987,466 - 30,988,174	RGD	NCBI36
Celera	6	32,477,590 - 32,478,298	RGD
HuRef	6	30,679,574 - 30,680,282	UniSTS

D6S2821

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	30,884,153 - 30,884,309	UniSTS	GRCh37
Build 36	6	30,992,132 - 30,992,288	RGD	NCBI36
Celera	6	32,482,248 - 32,482,404	RGD
HuRef	6	30,684,232 - 30,684,394	UniSTS

D6S2946

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	30,885,748 - 30,885,962	UniSTS	GRCh37
GRCh37	14	92,672,860 - 92,674,512	UniSTS	GRCh37
Build 36	6	30,993,727 - 30,993,941	RGD	NCBI36
Celera	6	32,483,843 - 32,484,057	RGD
Celera	14	72,725,458 - 72,727,110	UniSTS
HuRef	6	30,685,833 - 30,686,047	UniSTS

L18426

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	18	q12.1-q21.1	UniSTS
Cytogenetic Map	10	q23.1	UniSTS
Cytogenetic Map	2	q37	UniSTS
Cytogenetic Map	5	q31.3	UniSTS
Cytogenetic Map	20	q13.1	UniSTS
Cytogenetic Map	14	q21	UniSTS
Cytogenetic Map	6	p21.33	UniSTS
Cytogenetic Map	10	p11	UniSTS
Cytogenetic Map	5	q35.3	UniSTS
Cytogenetic Map	2	q37.1	UniSTS
Cytogenetic Map	15	q22.31	UniSTS
Cytogenetic Map	17	q25.1	UniSTS
Cytogenetic Map	5	q12.3	UniSTS
Cytogenetic Map	8	p21.2	UniSTS
Cytogenetic Map	14	q21.3	UniSTS
Cytogenetic Map	11	q12.3	UniSTS
Cytogenetic Map	10	p13	UniSTS
Cytogenetic Map	3	q13.31	UniSTS
Cytogenetic Map	15	q22.2	UniSTS
Cytogenetic Map	4	p16.3	UniSTS
Cytogenetic Map	17	q25.3	UniSTS
Cytogenetic Map	1	q21	UniSTS
Cytogenetic Map	3	q21.3	UniSTS
Cytogenetic Map	9	p13.2	UniSTS
Cytogenetic Map	20	q13.12	UniSTS
Cytogenetic Map	9	q34.1	UniSTS
Cytogenetic Map	1	q21.3	UniSTS
Cytogenetic Map	1	p22.1	UniSTS
Cytogenetic Map	19	q13.31	UniSTS
Cytogenetic Map	22	q11.23	UniSTS
Cytogenetic Map	19	p13.1-p12	UniSTS
Cytogenetic Map	18	p11.31-p11.21	UniSTS
Cytogenetic Map	2	p23.1	UniSTS
Cytogenetic Map	19	q13.43	UniSTS
Cytogenetic Map	6	q25.3	UniSTS
Cytogenetic Map	1	p34.3	UniSTS
Cytogenetic Map	11	q14	UniSTS
Cytogenetic Map	9	q21.32	UniSTS
Cytogenetic Map	1	p34-p33	UniSTS
Cytogenetic Map	3	q23	UniSTS
Cytogenetic Map	17	q21.1	UniSTS
Cytogenetic Map	15	q21	UniSTS
Cytogenetic Map	6	p21.3	UniSTS
Cytogenetic Map	2	q12.3	UniSTS
Cytogenetic Map	20	q11.2-q13.2	UniSTS
Cytogenetic Map	15	q26.3	UniSTS
Cytogenetic Map	8	p23-p22	UniSTS
Cytogenetic Map	13	q32.3	UniSTS
Cytogenetic Map	17	q21-q22	UniSTS
Cytogenetic Map	2	q36.1	UniSTS
Cytogenetic Map	5	p13	UniSTS
Cytogenetic Map	5	p12	UniSTS
Cytogenetic Map	12	q21.1	UniSTS
Cytogenetic Map	3	q26.32	UniSTS
Cytogenetic Map	13	q11	UniSTS
Cytogenetic Map	1	p35.3	UniSTS
Cytogenetic Map	7	p12.3	UniSTS
Cytogenetic Map	17	p12	UniSTS
Cytogenetic Map	17	q11.2	UniSTS
Cytogenetic Map	13	q14.11	UniSTS
Cytogenetic Map	3	p25.1	UniSTS
Cytogenetic Map	X	p22	UniSTS
Cytogenetic Map	21	q22.3	UniSTS
Cytogenetic Map	17	q11.2-q12	UniSTS
Cytogenetic Map	11	q23.3	UniSTS
Cytogenetic Map	2	p25	UniSTS
Cytogenetic Map	11	q13	UniSTS
Cytogenetic Map	8	p11.22	UniSTS
Cytogenetic Map	7	p22	UniSTS
Cytogenetic Map	16	q21	UniSTS
Cytogenetic Map	1	p21.3	UniSTS
Cytogenetic Map	19	q13.13	UniSTS
Cytogenetic Map	4	q22.1	UniSTS
Cytogenetic Map	1	p13.3	UniSTS
Cytogenetic Map	20	q13.3	UniSTS
Cytogenetic Map	7	q36.3	UniSTS
Cytogenetic Map	2	q33.2	UniSTS
Cytogenetic Map	6	p22.3-p22.1	UniSTS
Cytogenetic Map	1	p35-p34.3	UniSTS
Cytogenetic Map	5	q35.1	UniSTS
Cytogenetic Map	1	p36.13	UniSTS
Cytogenetic Map	12	p13.3	UniSTS
Cytogenetic Map	7	q22	UniSTS
Cytogenetic Map	2	q11.2	UniSTS
Cytogenetic Map	2	p23.3	UniSTS
Cytogenetic Map	X	p11	UniSTS
Cytogenetic Map	19	q13	UniSTS
Cytogenetic Map	2	q32.3	UniSTS
Cytogenetic Map	4	q22.1-q23	UniSTS
Cytogenetic Map	1	q22	UniSTS
Cytogenetic Map	17	q22-q23.2	UniSTS
Cytogenetic Map	17	q22	UniSTS
Cytogenetic Map	18	q22.3	UniSTS
Cytogenetic Map	2	p16.1	UniSTS
Cytogenetic Map	12	q24.1-q24.3	UniSTS
Cytogenetic Map	11	p11.2	UniSTS
Cytogenetic Map	1	p34.1	UniSTS
Cytogenetic Map	22	q13	UniSTS
Cytogenetic Map	12	q22	UniSTS
Cytogenetic Map	19	q13.2	UniSTS
Cytogenetic Map	11	q24.2	UniSTS
Cytogenetic Map	X	q22.3	UniSTS
Cytogenetic Map	3	q13.13	UniSTS
Cytogenetic Map	12	q24.31	UniSTS
Cytogenetic Map	3	q27.3	UniSTS
Cytogenetic Map	17	q21.32	UniSTS
Cytogenetic Map	2	q35	UniSTS
Cytogenetic Map	9	p24.2	UniSTS
Cytogenetic Map	14	q32.11	UniSTS
Cytogenetic Map	2	q21.1	UniSTS
Cytogenetic Map	15	q23	UniSTS
Cytogenetic Map	16	q22.2	UniSTS
Cytogenetic Map	7	q22.1	UniSTS
Cytogenetic Map	3	p22.1	UniSTS
Cytogenetic Map	19	q13.33	UniSTS
Cytogenetic Map	3	p14.3	UniSTS
Cytogenetic Map	1	p36.21	UniSTS
Cytogenetic Map	1	p31.3	UniSTS
Cytogenetic Map	12	p12	UniSTS
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	6	p25	UniSTS
Cytogenetic Map	16	p11.2	UniSTS
Cytogenetic Map	14	q23	UniSTS
Cytogenetic Map	1	q42.1-q43	UniSTS
Cytogenetic Map	5	q31.1	UniSTS
Cytogenetic Map	1	p32	UniSTS
Cytogenetic Map	12	q12	UniSTS
Cytogenetic Map	6	q25.1-q26	UniSTS
Cytogenetic Map	5	q13	UniSTS
Cytogenetic Map	12	q13.11-q14.3	UniSTS
Cytogenetic Map	7	p11	UniSTS
Cytogenetic Map	3	p21.31	UniSTS
Cytogenetic Map	17	q23.1	UniSTS
Cytogenetic Map	X	q13-q21	UniSTS
Cytogenetic Map	16	p12.2	UniSTS
Cytogenetic Map	10	q22.1	UniSTS
Cytogenetic Map	1	q41	UniSTS
Cytogenetic Map	17	p13.1	UniSTS
Cytogenetic Map	12	p13.2	UniSTS
Cytogenetic Map	3	q28-q29	UniSTS
Cytogenetic Map	7	q11.21	UniSTS
Cytogenetic Map	1	q41-q42.2	UniSTS
Cytogenetic Map	12	q24.2-q24.31	UniSTS
Cytogenetic Map	8	q24.3	UniSTS
Cytogenetic Map	11	p11.11	UniSTS
Cytogenetic Map	11	q22-q23	UniSTS
Cytogenetic Map	3	q21	UniSTS
Cytogenetic Map	1	q43	UniSTS
Cytogenetic Map	1	p13.2	UniSTS
Cytogenetic Map	15	q25.2	UniSTS
Cytogenetic Map	10	q11.21	UniSTS
Cytogenetic Map	17	q23.3	UniSTS
Cytogenetic Map	8	q11.2	UniSTS
Cytogenetic Map	15	q11-q13	UniSTS
Cytogenetic Map	13	q12-q14	UniSTS
Cytogenetic Map	18	q21.1	UniSTS
Cytogenetic Map	2	p21	UniSTS
Cytogenetic Map	22	q13.31	UniSTS
Cytogenetic Map	14	q24.1	UniSTS
Cytogenetic Map	1	p36.11	UniSTS
Cytogenetic Map	19	q13.12	UniSTS
Cytogenetic Map	6	p25.2	UniSTS
Cytogenetic Map	1	q44	UniSTS
Cytogenetic Map	19	q13.42	UniSTS
Cytogenetic Map	19	p13.2	UniSTS
Cytogenetic Map	17	p13.2	UniSTS
Cytogenetic Map	10	q26.3	UniSTS
Cytogenetic Map	13	q32.2	UniSTS
Cytogenetic Map	5	q11.2	UniSTS
Cytogenetic Map	11	p15.1	UniSTS
Cytogenetic Map	11	q24	UniSTS
Cytogenetic Map	2	q23.3	UniSTS
Cytogenetic Map	1	p31.1	UniSTS
Cytogenetic Map	10	q25.3	UniSTS
Cytogenetic Map	14	q31	UniSTS
Cytogenetic Map	8	p12-p11	UniSTS
Cytogenetic Map	11	p15.4	UniSTS
Cytogenetic Map	8	p11.2	UniSTS
Cytogenetic Map	7	p11.2	UniSTS
Cytogenetic Map	X	q28	UniSTS
Cytogenetic Map	15	q26.1	UniSTS
Cytogenetic Map	7	p15.3	UniSTS
Cytogenetic Map	17	q23.2	UniSTS
Cytogenetic Map	X	q25	UniSTS
Cytogenetic Map	21	q22.1	UniSTS
Cytogenetic Map	4	q25-q27	UniSTS
Cytogenetic Map	3	q25.33	UniSTS
Cytogenetic Map	3	q25.31	UniSTS
Cytogenetic Map	1	p34.2	UniSTS
Cytogenetic Map	1	p36.22	UniSTS
Cytogenetic Map	16	q22.1	UniSTS
Cytogenetic Map	X	p22.33	UniSTS
Cytogenetic Map	Y	p11.3	UniSTS
Cytogenetic Map	19	q13.1	UniSTS
Cytogenetic Map	3	p22-p21.3	UniSTS
Cytogenetic Map	2	p15-p13	UniSTS
Cytogenetic Map	X	p11.4	UniSTS
Cytogenetic Map	20	p11	UniSTS
Cytogenetic Map	3	p14.1	UniSTS
Cytogenetic Map	1	q25.2	UniSTS
Cytogenetic Map	13	q11-q12	UniSTS
Cytogenetic Map	9	q34	UniSTS
Cytogenetic Map	7	q21.13	UniSTS
Cytogenetic Map	20	q13.33	UniSTS
Cytogenetic Map	9	q33.3	UniSTS
Cytogenetic Map	11	q13.1	UniSTS
Cytogenetic Map	3	q12	UniSTS
Cytogenetic Map	2	p25.1-p24.1	UniSTS
Cytogenetic Map	16	p13.11	UniSTS
Cytogenetic Map	6	q16.1	UniSTS
Cytogenetic Map	13	q14.13	UniSTS
Cytogenetic Map	5	p13.1	UniSTS
Cytogenetic Map	4	q28-q32	UniSTS
Cytogenetic Map	11	p15	UniSTS
Cytogenetic Map	1	p35.1	UniSTS
Cytogenetic Map	1	p32-p31	UniSTS
Cytogenetic Map	1	p21	UniSTS
Cytogenetic Map	7	p14.2	UniSTS
Cytogenetic Map	6	q25	UniSTS
Cytogenetic Map	5	q31	UniSTS
Cytogenetic Map	18	p11.22	UniSTS
Cytogenetic Map	9	p24.3	UniSTS
Cytogenetic Map	2	p25.3	UniSTS
Cytogenetic Map	1	q42.3	UniSTS
Cytogenetic Map	1	q22-q23	UniSTS
Cytogenetic Map	4	q21.22	UniSTS
Cytogenetic Map	13	q14.2	UniSTS
Cytogenetic Map	2	q24.3	UniSTS
Cytogenetic Map	7	p22.1	UniSTS
Cytogenetic Map	9	q31-q33	UniSTS
Cytogenetic Map	11	q13.4	UniSTS
Cytogenetic Map	10	p11.21	UniSTS
Cytogenetic Map	9	q32	UniSTS
Cytogenetic Map	3	q21.1	UniSTS
Cytogenetic Map	10	q11.23	UniSTS
Cytogenetic Map	9	q22.1-q22.2	UniSTS
Cytogenetic Map	4	q26	UniSTS
Cytogenetic Map	4	q28.1	UniSTS
Cytogenetic Map	9	q31.3	UniSTS
Cytogenetic Map	6	p22.3	UniSTS
Cytogenetic Map	21	q21.1	UniSTS
Cytogenetic Map	19	q13.32	UniSTS
Cytogenetic Map	18	q11.2	UniSTS
Cytogenetic Map	17	q21.31	UniSTS
Cytogenetic Map	15	q26.2	UniSTS
Cytogenetic Map	14	q22.1	UniSTS
Cytogenetic Map	12	p12.3	UniSTS
Cytogenetic Map	12	q13.12	UniSTS
Cytogenetic Map	20	q11.23	UniSTS
Cytogenetic Map	12	q13.11	UniSTS
Cytogenetic Map	9	p13.3	UniSTS
Cytogenetic Map	11	q13.2	UniSTS
Cytogenetic Map	12	q14.3	UniSTS
Cytogenetic Map	5	q33.3	UniSTS
Cytogenetic Map	5	p13.2	UniSTS
Cytogenetic Map	4	q35.2	UniSTS
Cytogenetic Map	4	q28.2	UniSTS
Cytogenetic Map	16	q24.1	UniSTS
Cytogenetic Map	12	q23.1	UniSTS
Cytogenetic Map	11	q24.3	UniSTS
Cytogenetic Map	10	q24.32	UniSTS
Cytogenetic Map	10	q22.2	UniSTS
Cytogenetic Map	20	p13	UniSTS
Cytogenetic Map	6	q25.1	UniSTS
Cytogenetic Map	20	q13.2	UniSTS
Cytogenetic Map	8	q23.3	UniSTS
Cytogenetic Map	16	q23.2	UniSTS
Cytogenetic Map	3	p22.2	UniSTS
Cytogenetic Map	X	p21.1	UniSTS
Cytogenetic Map	7	p14.3	UniSTS
Cytogenetic Map	X	p11.23	UniSTS
Cytogenetic Map	14	q32.31	UniSTS
Cytogenetic Map	5	p15.3	UniSTS
Cytogenetic Map	15	q21.2	UniSTS
Cytogenetic Map	22	q12	UniSTS
Cytogenetic Map	4	q22	UniSTS
Cytogenetic Map	2	p13.1	UniSTS
Cytogenetic Map	19	q13.1-q13.2	UniSTS
Cytogenetic Map	1	p36.3	UniSTS
Cytogenetic Map	17	q21	UniSTS
Cytogenetic Map	2	q32.1	UniSTS
Cytogenetic Map	7	q31.3	UniSTS
Cytogenetic Map	5	q33.1	UniSTS
Cytogenetic Map	13	q13.1	UniSTS
Cytogenetic Map	8	p23.1	UniSTS
Cytogenetic Map	15	q	UniSTS
Cytogenetic Map	3	p26	UniSTS
Cytogenetic Map	1	p13-p12	UniSTS
Cytogenetic Map	21	q22.11	UniSTS
Cytogenetic Map	14	q32.2	UniSTS
Cytogenetic Map	15	q24.1	UniSTS
Cytogenetic Map	4	p16.1	UniSTS
Cytogenetic Map	15	q11.2	UniSTS
Cytogenetic Map	3	p25.2	UniSTS
Cytogenetic Map	7	p22.3	UniSTS
Cytogenetic Map	10	q21.1	UniSTS
Cytogenetic Map	6	q21	UniSTS
Cytogenetic Map	21	q22.2	UniSTS
Cytogenetic Map	1	q23.3	UniSTS
Cytogenetic Map	1	p36	UniSTS
Cytogenetic Map	1	q25	UniSTS
Cytogenetic Map	15	q24	UniSTS
Cytogenetic Map	3	p25.3	UniSTS
Cytogenetic Map	2	q22.3	UniSTS
Cytogenetic Map	20	p11.21	UniSTS
Cytogenetic Map	12	q24.1	UniSTS
Cytogenetic Map	5	q31.2	UniSTS
Cytogenetic Map	2	p25.2	UniSTS
Cytogenetic Map	17	p11.2	UniSTS
Cytogenetic Map	19	q13.3	UniSTS
Cytogenetic Map	22	q13.33	UniSTS
Cytogenetic Map	2	p25.1	UniSTS
Cytogenetic Map	4	q12	UniSTS
Cytogenetic Map	1	q12	UniSTS
Cytogenetic Map	22	q11.22	UniSTS
Cytogenetic Map	20	q11.22	UniSTS
Cytogenetic Map	8	p21.3	UniSTS
Cytogenetic Map	14	q32.3	UniSTS
Cytogenetic Map	7	q32	UniSTS
Cytogenetic Map	5	q14.1	UniSTS
Cytogenetic Map	12	q13.13	UniSTS
Cytogenetic Map	14	q23.3	UniSTS
Cytogenetic Map	1	q24	UniSTS
Cytogenetic Map	7	p13	UniSTS
Cytogenetic Map	17	q25	UniSTS
Cytogenetic Map	22	q11.21	UniSTS
Cytogenetic Map	5	p15.33	UniSTS
Cytogenetic Map	3	q29	UniSTS
Cytogenetic Map	9	q34.3	UniSTS
Cytogenetic Map	16	p13.13-p13.12	UniSTS
Cytogenetic Map	12	p13.31	UniSTS
Cytogenetic Map	14	q24.3	UniSTS
Cytogenetic Map	3	q27	UniSTS
Cytogenetic Map	6	q22	UniSTS
Cytogenetic Map	10	p15.3	UniSTS
Cytogenetic Map	22	q13.2	UniSTS
Cytogenetic Map	15	q15	UniSTS
Cytogenetic Map	1	p13.1	UniSTS
Cytogenetic Map	19	p12	UniSTS
Cytogenetic Map	16	q13	UniSTS
Cytogenetic Map	9	q34.11	UniSTS
Cytogenetic Map	13	q34	UniSTS
Cytogenetic Map	2	p11.2	UniSTS
Cytogenetic Map	13	q14.3	UniSTS
Cytogenetic Map	14	q24	UniSTS
Cytogenetic Map	14	q22-q24	UniSTS
Cytogenetic Map	19	p13	UniSTS
Cytogenetic Map	17	p13.3	UniSTS
Cytogenetic Map	22	q12.2	UniSTS
Cytogenetic Map	16	q24	UniSTS
Cytogenetic Map	X	p22.2	UniSTS
Cytogenetic Map	8	q13.1	UniSTS
Cytogenetic Map	1	p36.33	UniSTS
Cytogenetic Map	22	q13.1	UniSTS
Cytogenetic Map	17	q12	UniSTS
Cytogenetic Map	12	p12.1	UniSTS
Cytogenetic Map	14	q11.2	UniSTS
Cytogenetic Map	4	q35.1	UniSTS
Cytogenetic Map	20	q13.13	UniSTS
Cytogenetic Map	1	p22	UniSTS
Cytogenetic Map	16	p13.3	UniSTS
Cytogenetic Map	10	q11	UniSTS
Cytogenetic Map	8	p11.21	UniSTS
Cytogenetic Map	8	q24.11	UniSTS
Cytogenetic Map	2	q37.3	UniSTS
Cytogenetic Map	9	q22.33	UniSTS
Cytogenetic Map	9	q22.31	UniSTS
Cytogenetic Map	11	p15.5	UniSTS
Cytogenetic Map	20	q12	UniSTS
Cytogenetic Map	2	q13	UniSTS
Cytogenetic Map	7	q11.23	UniSTS
Cytogenetic Map	2	p15	UniSTS
Cytogenetic Map	12	q21.31	UniSTS
Cytogenetic Map	17	p13	UniSTS
Cytogenetic Map	19	q12	UniSTS
Cytogenetic Map	6	p22.1	UniSTS
Cytogenetic Map	11	q14.2	UniSTS
Cytogenetic Map	19	p13.3	UniSTS
Cytogenetic Map	18	p11.21	UniSTS
Cytogenetic Map	10	q22	UniSTS
Cytogenetic Map	X	q21.1	UniSTS
Cytogenetic Map	9	p21.1	UniSTS

D6S2698

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	6	p21.33	UniSTS

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

2289

1742

1566

482

1267

336

4145

1704

3400

295

1377

1536

157

1171

2607

Low

149

1247

157

142

680

129

211

490

318

123

181

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_034224	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001167733	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001167734	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_020442	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB067472	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK000511	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK025618	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK026063	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK094483	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK125069	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK293780	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK294451	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK303415	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK304807	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK315733	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL122037	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL662854	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL669830	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL773541	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC008844	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC009355	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC063427	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC073838	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC112054	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC113605	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC143534	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC143535	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC143536	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX927194	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471081	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068272	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR759747	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR936875	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC307585	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500923	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000321897 ⟹ ENSP00000316092

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	30,914,205 - 30,926,459 (+)	Ensembl

RefSeq Acc Id:

ENST00000421263 ⟹ ENSP00000416390

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	30,914,382 - 30,915,416 (+)	Ensembl

RefSeq Acc Id:

ENST00000428017 ⟹ ENSP00000403749

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	30,914,252 - 30,917,799 (+)	Ensembl

RefSeq Acc Id:

ENST00000467717

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	30,914,266 - 30,917,806 (+)	Ensembl

RefSeq Acc Id:

ENST00000469358

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	30,918,764 - 30,926,459 (+)	Ensembl

RefSeq Acc Id:

ENST00000473916

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	30,923,208 - 30,926,459 (+)	Ensembl

RefSeq Acc Id:

ENST00000476162

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	30,919,826 - 30,926,459 (+)	Ensembl

RefSeq Acc Id:

ENST00000477052

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	30,922,583 - 30,923,505 (+)	Ensembl

RefSeq Acc Id:

ENST00000490699

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	30,916,428 - 30,917,761 (+)	Ensembl

RefSeq Acc Id:

ENST00000541562 ⟹ ENSP00000441000

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	30,914,331 - 30,926,413 (+)	Ensembl

RefSeq Acc Id:

ENST00000625423 ⟹ ENSP00000485818

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	30,914,220 - 30,926,456 (+)	Ensembl

RefSeq Acc Id:

ENST00000672801 ⟹ ENSP00000500615

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	30,914,205 - 30,926,456 (+)	Ensembl

RefSeq Acc Id:

ENST00000676266 ⟹ ENSP00000502585

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	30,914,238 - 30,926,459 (+)	Ensembl

RefSeq Acc Id:

NM_001167733 ⟹ NP_001161205

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	30,914,238 - 30,926,459 (+)	NCBI
GRCh37	6	30,881,982 - 30,894,236 (+)	RGD
Celera	6	32,480,085 - 32,492,348 (+)	RGD
HuRef	6	30,682,069 - 30,694,336 (+)	RGD
CHM1_1	6	30,884,171 - 30,896,411 (+)	NCBI
T2T-CHM13v2.0	6	30,778,904 - 30,791,138 (+)	NCBI

Sequence:

show sequence

GCCCCCATGCGCCGCGCGGCTCCAGGGCCACGTTCCAGGGTCGGGTTTGGTGGATTCCTCAGTC
CCTGCCGCCGCGGGGCGCCCTGGGATAGCGGCGGGGCCTCCTGTCACCTGCAGAATCCATTAAG
GCCTGGAGGCCTAAGGAGTTAGTATTGTATGAAATCCCTACGAAACCCGGTGAAAAGAAAGATG
TCTCTGGGCCCCTGCCTCCTGCATACAGCCCCCGATATGTTGAGGCTGCCTGGTACCCGTGGTG
GGTACGAGAGGGCTTCTTCAAACCAGAATATCAGGCCCGGCTGCCCCAAGCTACAGGGGAGACC
TTTTCCATGTGTATCCCACCTCCCAATGTCACTGGCTCCCTGCACATTGGCCACGCACTCACGG
TGGCCATACAGGATGCCCTCGTGCGCTGGCACCGGATGCGTGGGGATCAAGTGCTGTGGGTCCC
TGGTTCAGATCATGCAGGAATTGCTACACAAGCTGTGGTGGAGAAACAACTGTGGAAGGAACGG
GGAGTGAGGAGACATGAGCTGAGCCGGGAGGCCTTCCTTAGGGAGGTGTGGCAGTGGAAGGAGG
CGAAAGGTGGAGAGATCTGTGAGCAGCTGCGAGCTCTGGGTGCCTCCCTGGACTGGGATCGAGA
GTGTTTTACCATGGATGTTGGCTCCTCAGTGGCTGTGACTGAAGCTTTTGTGCGGCTCTACAAG
GCGGGGTTGCTGTACCGGAACCATCAGCTTGTCAACTGGTCATGTGCTTTAAGATCAGCCATCT
CGGACATTGAGGTGGAGAACCGGCCCCTGCCTGGCCACACACAGCTTCGACTGCCTGGCTGCCC
CACCCCCGTGTCTTTTGGCCTCCTATTTTCTGTTGCCTTCCCCGTGGATGGAGAGCCTGATGCA
GAGGTTGTGGTAGGAACCACAAGGCCAGAGACGCTGCCTGGAGATGTGGCTGTGGCCGTTCATC
CAGACGACTCGCGATACACACATCTACACGGGCGACAGCTTCGTCACCCCTTGATGGGGCAGCC
TCTTCCCCTCATCACAGACTATGCTGTTCAGCCACATGTGGGCACGGGGGCAGTGAAGGTGACT
CCAGCTCACAGTCCTGCCGATGCTGAGATGGGGGCCCGACATGGCTTGAGCCCCTTGAATGTCA
TTGCGGAGGATGGGACCATGACCTCCCTCTGCGGGGACTGGCTGCAGGGTCTTCACCGGTTTGT
GGCCCGGGAAAAGATAATGTCTGTGCTGAGTGAATGGGGCCTGTTCCGGGGCCTCCAGAACCAC
CCCATGGTACTGCCCATCTGCAGCCGTTCTGGGGATGTGATAGAATACCTGCTGAAGAACCAGT
GGTTTGTCCGCTGCCAGGAAATGGGGGCCCGAGCTGCCAAGGCTGTGGAGTCGGGGGCCCTGGA
GCTCAGTCCCTCCTTCCACCAGAAGAACTGGCAGCACTGGTTTTCCCATATTGGGGACTGGTGT
GTCTCCCGGCAGCTGTGGTGGGGCCATCAGATTCCAGCCTACCTGGTTGTAGAGGACCATGCGC
AGGGAGAAGAGGACTGTTGGGTGGTTGGGCGGTCAGAGGCTGAGGCCAGAGAGGTAGCAGCGGA
ACTGACAGGGAGGCCAGGGGCAGAGCTGACCCTGGAGAGGGATCCTGATGTCCTAGACACATGG
TTTTCTTCTGCCCTGTTCCCCTTTTCTGCCCTGGGCTGGCCCCAAGAGACCCCAGACCTTGCTC
GTTTCTACCCCCTGTCACTTTTGGAAACGGGCAGCGACCTTCTGCTGTTCTGGGTGGGCCGCAT
GGTCATGTTGGGGACCCAGCTCACAGGGCAGCTGCCCTTCAGCAAGGTGCTTCTTCATCCCATG
GTTCGGGACAGGCAGGGCCGGAAGATGAGCAAGTCCCTGGGGAATGTGCTGGACCCAAGAGACA
TCATCAGTGGGGTGGAGATGCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGC
AGAGCTGGCCATTGTGGCTGCAGCACAGAAAAAGGACTTTCCTCACGGGATCCCTGAGTGTGGG
ACAGATGCCCTGAGATTCACACTCTGCTCCCATGGAGTTCAGGCGGGCGACTTGCACCTGTCAG
TCTCTGAGGTCCAGAGCTGCCGACATTTCTGCAACAAGATCTGGAATGCTCTTCGCTTTATCCT
CAATGCTTTAGGGGAGAAATTTGTGCCACAGCCTGCTGAGGAGCTGTCTCCCTCCTCCCCGATG
GATGCCTGGATCCTGAGCCGCCTTGCCCTGGCTGCCCAGGAGTGTGAGCGGGGCTTCCTCACCC
GAGAGCTCTCGCTCGTCACTCATGCCCTGCACCACTTCTGGCTTCACAACCTCTGTGACGTCTA
CCTGGAGGCTGTGAAGCCCGTGCTGTGGCACTCGCCCCGCCCCCTGGGGCCCCCTCAGGTCCTG
TTCTCCTGCGCTGACCTCGGCCTCCGCCTCCTGGCCCCACTGATGCCCTTCCTGGCTGAAGAGC
TCTGGCAGAGGCTGCCCCCCAGGCCTGGTTGCCCCCCTGCCCCCAGCATCTCGGTTGCCCCCTA
CCCCAGCGCCTGCAGCTTGGAGCACTGGCGCCAGCCAGAGCTGGAGCGGCGCTTCTCCCGGGTC
CAAGAGGTCGTGCAGGTGCTAAGGGCTCTCCGAGCCACGTACCAGCTCACCAAAGCCCGGCCCC
GAGTGCTGCTGCAGAGCTCAGAGCCTGGGGACCAGGGCCTCTTCGAGGCCTTCTTGGAGCCCCT
GGGCACCCTGGGCTACTGTGGGGCTGTGGGCCTGTTACCCCCAGGCGCAGCAGCTCCCTCCGGC
TGGGCCCAGGCTCCACTCAGTGACACGGCTCAAGTCTACATGGAGCTGCAGGGCCTGGTGGACC
CGCAGATCCAGCTACCTCTGTTAGCCGCCCGAAGGTACAAGTTGCAGAAGCAGCTTGACAGCCT
CACAGCCAGGACCCCATCAGAAGGGGAGGCAGGGACTCAGAGGCAACAAAAGCTTTCTTCCCTC
CAGCTGGAATTGTCAAAACTGGACAAGGCAGCCTCTCACCTCCGGCAGCTGATGGATGAGCCTC
CAGCCCCAGGGAGCCCGGAGCTCTAACTCATCATCCCCATCAGTTTTCCTCCCTCTCAGACCTG
TCTTTGAGGACAAACAGATTTGTCAGCTGTCAGGGTGCAGTGGGACGTCAGAGACTATGTGGTC
CATCGCCTTCATTGTGTAAATGAGGACACAGACTGGCTTGGTCGCAGTGACTGTGGTGTCCTTG
AGATGCTCACATTACTGCCCGGCCTGCCTCCCACCTGGAAGTCTGGGAATGAGGAGATTGAGAT
AAACTTTTGAAATCCCAAA

hide sequence

RefSeq Acc Id:

NM_001167734 ⟹ NP_001161206

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	30,914,238 - 30,926,459 (+)	NCBI
GRCh37	6	30,881,982 - 30,894,236 (+)	RGD
Celera	6	32,480,085 - 32,492,348 (+)	RGD
HuRef	6	30,682,069 - 30,694,336 (+)	RGD
CHM1_1	6	30,884,294 - 30,896,411 (+)	NCBI
T2T-CHM13v2.0	6	30,778,904 - 30,791,138 (+)	NCBI

Sequence:

show sequence

GCCCCCATGCGCCGCGCGGCTCCAGGGCCACGTTCCAGGGTCGGGTTTGGTGGATTCCTCAGTC
CCTGCCGCCGCGGGGCGCCCTGGGATAGCGGCGGGGCCTCCTGGTGAGCGCGCGCCGGGGCGGC
CTCCGGGAAGTGGGAGACGCTGCGGGTCCTGGGCCCAGGCCTTGGGATGGGCGGGAAGGCTTGG
CCGCGCCGGGCTGTGGGCACTGCAGGAGGCCCCTGTGCAGAACAGATCTCGGCCCCTTTCCAAA
CACTCCTGATGCCTCATTTGCCTCTCGCCTCTTTTCGACCACCATTTTGGGGGCTGAGGCACTC
ACGGGGCCTCCCCAGGTTTCACTCCGTTTCTACACAGTCGGAGCCCCATGGATCTCCCATCTCC
CGGAGGAACCGTGAAGCCAAACAGAAGCGCCTGCGAGAGAAGCAGGCGACTCTGGAGGCTGAGA
TAGCAGGGGAGAGCAAGTCACCTGCAGAATCCATTAAGGCCTGGAGGCCTAAGGAGTTAGTATT
GTATGAAATCCCTACGAAACCCGGTGAAAAGAAAGATGTCTCTGGGCCCCTGCCTCCTGCATAC
AGCCCCCGATATGTTGAGGCTGCCTGGTACCCGTGGTGGGTACGAGAGGGCTTCTTCAAACCAG
AATATCAGGCCCGGCTGCCCCAAGCTACAGGGGAGACCTTTTCCATGTGTATCCCACCTCCCAA
TGTCACTGGCTCCCTGCACATTGGCCACGCACTCACGGTGGCCATACAGGATGCCCTCGTGCGC
TGGCACCGGATGCGTGGGGATCAAGTGCTGTGGGTCCCTGGTTCAGATCATGCAGGAATTGCTA
CACAAGCTGTGGTGGAGAAACAACTGTGGAAGGAACGGGGAGTGAGGAGACATGAGCTGAGCCG
GGAGGCCTTCCTTAGGGAGGTGTGGCAGTGGAAGGAGGCGAAAGGTGGAGAGATCTGTGAGCAG
CTGCGAGCTCTGGGTGCCTCCCTGGACTGGGATCGAGAGTGTTTTACCATGGATGTTGGCTCCT
CAGTGGCTGTGACTGAAGCTTTTGTGCGGCTCTACAAGGCGGGGTTGCTGTACCGGAACCATCA
GCTTGTCAACTGGTCATGTGCTTTAAGATCAGCCATCTCGGACATTGAGGTGGAGAACCGGCCC
CTGCCTGGCCACACACAGCTTCGACTGCCTGGCTGCCCCACCCCCGTGTCTTTTGGCCTCCTAT
TTTCTGTTGCCTTCCCCGTGGATGGAGAGCCTGATGCAGAGGTTGTGGTAGGAACCACAAGGCC
AGAGACGCTGCCTGGAGATGTGGCTGTGGCCGTTCATCCAGACGACTCGCGATACACACATCTA
CACGGGCGACAGCTTCGTCACCCCTTGATGGGGCAGCCTCTTCCCCTCATCACAGACTATGCTG
TTCAGCCACATGTGGGCACGGGGGCAGTGAAGGTGACTCCAGCTCACAGTCCTGCCGATGCTGA
GATGGGGGCCCGACATGGCTTGAGCCCCTTGAATGTCATTGCGGAGGATGGGACCATGACCTCC
CTCTGCGGGGACTGGCTGCAGGGTCTTCACCGGTTTGTGGCCCGGGAAAAGATAATGTCTGTGC
TGAGTGAATGGGGCCTGTTCCGGGGCCTCCAGAACCACCCCATGGTACTGCCCATCTGCAGCCG
TTCTGGGGATGTGATAGAATACCTGCTGAAGAACCAGTGGTTTGTCCGCTGCCAGGAAATGGGG
GCCCGAGCTGCCAAGGCTGTGGAGTCGGGGGCCCTGGAGCTCAGTCCCTCCTTCCACCAGAAGA
ACTGGCAGCACTGGTTTTCCCATATTGGGGACTGGTGTGTCTCCCGGCAGCTGTGGTGGGGCCA
TCAGATTCCAGCCTACCTGGTTGTAGAGGACCATGCGCAGGGAGAAGAGGACTGTTGGGTGGTT
GGGCGGTCAGAGGCTGAGGCCAGAGAGGTAGCAGCGGAACTGACAGGGAGGCCAGGGGCAGAGC
TGACCCTGGAGAGGGATCCTGATGTCCTAGACACATGGTTTTCTTCTGCCCTGTTCCCCTTTTC
TGCCCTGGGCTGGCCCCAAGAGACCCCAGACCTTGCTCGTTTCTACCCCCTGTCACTTTTGGAA
ACGGGCAGCGACCTTCTGCTGTTCTGGGTGGGCCGCATGGTCATGTTGGGGACCCAGCTCACAG
GGCAGCTGCCCTTCAGCAAGGTGCTTCTTCATCCCATGGTTCGGGACAGGCAGGGCCGGAAGAT
GAGCAAGTCCCTGGGGAATGTGCTGGACCCAAGAGACATCATCAGTGGGGTGGAGATGCAGGTG
CTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCAC
AGAAAAAGGACTTTCCTCACGGGATCCCTGAGTGTGGGACAGATGCCCTGAGATTCACACTCTG
CTCCCATGGAGTTCAGGCGGGCGACTTGCACCTGTCAGTCTCTGAGGTCCAGAGCTGCCGACAT
TTCTGCAACAAGATCTGGAATGCTCTTCGCTTTATCCTCAATGCTTTAGGGGAGAAATTTGTGC
CACAGCCTGCTGAGGAGCTGTCTCCCTCCTCCCCGATGGATGCCTGGATCCTGAGCCGCCTTGC
CCTGGCTGCCCAGGAGTGTGAGCGGGGCTTCCTCACCCGAGAGCTCTCGCTCGTCACTCATGCC
CTGCACCACTTCTGGCTTCACAACCTCTGTGACGTCTACCTGGAGGCTGTGAAGCCCGTGCTGT
GGCACTCGCCCCGCCCCCTGGGGCCCCCTCAGGTCCTGTTCTCCTGCGCTGACCTCGGCCTCCG
CCTCCTGGCCCCACTGATGCCCTTCCTGGCTGAAGAGCTCTGGCAGAGGCTGCCCCCCAGGCCT
GGTTGCCCCCCTGCCCCCAGCATCTCGGTTGCCCCCTACCCCAGCGCCTGCAGCTTGGAGCACT
GGCGCCAGCCAGAGCTGGAGCGGCGCTTCTCCCGGGTCCAAGAGGTCGTGCAGGTGCTAAGGGC
TCTCCGAGCCACGTACCAGCTCACCAAAGCCCGGCCCCGAGTGCTGCTGCAGAGCTCAGAGCCT
GGGGACCAGGGCCTCTTCGAGGCCTTCTTGGAGCCCCTGGGCACCCTGGGCTACTGTGGGGCTG
TGGGCCTGTTACCCCCAGGCGCAGCAGCTCCCTCCGGCTGGGCCCAGGCTCCACTCAGTGACAC
GGCTCAAGTCTACATGGAGCTGCAGGGCCTGGTGGACCCGCAGATCCAGCTACCTCTGTTAGCC
GCCCGAAGGTACAAGTTGCAGAAGCAGCTTGACAGCCTCACAGCCAGGACCCCATCAGAAGGGG
AGGCAGGGACTCAGAGGCAACAAAAGCTTTCTTCCCTCCAGCTGGAATTGTCAAAACTGGACAA
GGCAGCCTCTCACCTCCGGCAGCTGATGGATGAGCCTCCAGCCCCAGGGAGCCCGGAGCTCTAA
CTCATCATCCCCATCAGTTTTCCTCCCTCTCAGACCTGTCTTTGAGGACAAACAGATTTGTCAG
CTGTCAGGGTGCAGTGGGACGTCAGAGACTATGTGGTCCATCGCCTTCATTGTGTAAATGAGGA
CACAGACTGGCTTGGTCGCAGTGACTGTGGTGTCCTTGAGATGCTCACATTACTGCCCGGCCTG
CCTCCCACCTGGAAGTCTGGGAATGAGGAGATTGAGATAAACTTTTGAAATCCCAAA

hide sequence

RefSeq Acc Id:

NM_020442 ⟹ NP_065175

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	30,914,238 - 30,926,459 (+)	NCBI
GRCh37	6	30,881,982 - 30,894,236 (+)	RGD
Build 36	6	30,989,961 - 31,002,212 (+)	NCBI Archive
Celera	6	32,480,085 - 32,492,348 (+)	RGD
HuRef	6	30,682,069 - 30,694,336 (+)	RGD
CHM1_1	6	30,884,171 - 30,896,411 (+)	NCBI
T2T-CHM13v2.0	6	30,778,904 - 30,791,138 (+)	NCBI

Sequence:

show sequence

GCCCCCATGCGCCGCGCGGCTCCAGGGCCACGTTCCAGGGTCGGGTTTGGTGGATTCCTCAGTC
CCTGCCGCCGCGGGGCGCCCTGGGATAGCGGCGGGGCCTCCTGATCTCGGCCCCTTTCCAAACA
CTCCTGATGCCTCATTTGCCTCTCGCCTCTTTTCGACCACCATTTTGGGGGCTGAGGCACTCAC
GGGGCCTCCCCAGGTTTCACTCCGTTTCTACACAGTCGGAGCCCCATGGATCTCCCATCTCCCG
GAGGAACCGTGAAGCCAAACAGAAGCGCCTGCGAGAGAAGCAGGCGACTCTGGAGGCTGAGATA
GCAGGGGAGAGCAAGTCACCTGCAGAATCCATTAAGGCCTGGAGGCCTAAGGAGTTAGTATTGT
ATGAAATCCCTACGAAACCCGGTGAAAAGAAAGATGTCTCTGGGCCCCTGCCTCCTGCATACAG
CCCCCGATATGTTGAGGCTGCCTGGTACCCGTGGTGGGTACGAGAGGGCTTCTTCAAACCAGAA
TATCAGGCCCGGCTGCCCCAAGCTACAGGGGAGACCTTTTCCATGTGTATCCCACCTCCCAATG
TCACTGGCTCCCTGCACATTGGCCACGCACTCACGGTGGCCATACAGGATGCCCTCGTGCGCTG
GCACCGGATGCGTGGGGATCAAGTGCTGTGGGTCCCTGGTTCAGATCATGCAGGAATTGCTACA
CAAGCTGTGGTGGAGAAACAACTGTGGAAGGAACGGGGAGTGAGGAGACATGAGCTGAGCCGGG
AGGCCTTCCTTAGGGAGGTGTGGCAGTGGAAGGAGGCGAAAGGTGGAGAGATCTGTGAGCAGCT
GCGAGCTCTGGGTGCCTCCCTGGACTGGGATCGAGAGTGTTTTACCATGGATGTTGGCTCCTCA
GTGGCTGTGACTGAAGCTTTTGTGCGGCTCTACAAGGCGGGGTTGCTGTACCGGAACCATCAGC
TTGTCAACTGGTCATGTGCTTTAAGATCAGCCATCTCGGACATTGAGGTGGAGAACCGGCCCCT
GCCTGGCCACACACAGCTTCGACTGCCTGGCTGCCCCACCCCCGTGTCTTTTGGCCTCCTATTT
TCTGTTGCCTTCCCCGTGGATGGAGAGCCTGATGCAGAGGTTGTGGTAGGAACCACAAGGCCAG
AGACGCTGCCTGGAGATGTGGCTGTGGCCGTTCATCCAGACGACTCGCGATACACACATCTACA
CGGGCGACAGCTTCGTCACCCCTTGATGGGGCAGCCTCTTCCCCTCATCACAGACTATGCTGTT
CAGCCACATGTGGGCACGGGGGCAGTGAAGGTGACTCCAGCTCACAGTCCTGCCGATGCTGAGA
TGGGGGCCCGACATGGCTTGAGCCCCTTGAATGTCATTGCGGAGGATGGGACCATGACCTCCCT
CTGCGGGGACTGGCTGCAGGGTCTTCACCGGTTTGTGGCCCGGGAAAAGATAATGTCTGTGCTG
AGTGAATGGGGCCTGTTCCGGGGCCTCCAGAACCACCCCATGGTACTGCCCATCTGCAGCCGTT
CTGGGGATGTGATAGAATACCTGCTGAAGAACCAGTGGTTTGTCCGCTGCCAGGAAATGGGGGC
CCGAGCTGCCAAGGCTGTGGAGTCGGGGGCCCTGGAGCTCAGTCCCTCCTTCCACCAGAAGAAC
TGGCAGCACTGGTTTTCCCATATTGGGGACTGGTGTGTCTCCCGGCAGCTGTGGTGGGGCCATC
AGATTCCAGCCTACCTGGTTGTAGAGGACCATGCGCAGGGAGAAGAGGACTGTTGGGTGGTTGG
GCGGTCAGAGGCTGAGGCCAGAGAGGTAGCAGCGGAACTGACAGGGAGGCCAGGGGCAGAGCTG
ACCCTGGAGAGGGATCCTGATGTCCTAGACACATGGTTTTCTTCTGCCCTGTTCCCCTTTTCTG
CCCTGGGCTGGCCCCAAGAGACCCCAGACCTTGCTCGTTTCTACCCCCTGTCACTTTTGGAAAC
GGGCAGCGACCTTCTGCTGTTCTGGGTGGGCCGCATGGTCATGTTGGGGACCCAGCTCACAGGG
CAGCTGCCCTTCAGCAAGGTGCTTCTTCATCCCATGGTTCGGGACAGGCAGGGCCGGAAGATGA
GCAAGTCCCTGGGGAATGTGCTGGACCCAAGAGACATCATCAGTGGGGTGGAGATGCAGGTGCT
GCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAG
AAAAAGGACTTTCCTCACGGGATCCCTGAGTGTGGGACAGATGCCCTGAGATTCACACTCTGCT
CCCATGGAGTTCAGGCGGGCGACTTGCACCTGTCAGTCTCTGAGGTCCAGAGCTGCCGACATTT
CTGCAACAAGATCTGGAATGCTCTTCGCTTTATCCTCAATGCTTTAGGGGAGAAATTTGTGCCA
CAGCCTGCTGAGGAGCTGTCTCCCTCCTCCCCGATGGATGCCTGGATCCTGAGCCGCCTTGCCC
TGGCTGCCCAGGAGTGTGAGCGGGGCTTCCTCACCCGAGAGCTCTCGCTCGTCACTCATGCCCT
GCACCACTTCTGGCTTCACAACCTCTGTGACGTCTACCTGGAGGCTGTGAAGCCCGTGCTGTGG
CACTCGCCCCGCCCCCTGGGGCCCCCTCAGGTCCTGTTCTCCTGCGCTGACCTCGGCCTCCGCC
TCCTGGCCCCACTGATGCCCTTCCTGGCTGAAGAGCTCTGGCAGAGGCTGCCCCCCAGGCCTGG
TTGCCCCCCTGCCCCCAGCATCTCGGTTGCCCCCTACCCCAGCGCCTGCAGCTTGGAGCACTGG
CGCCAGCCAGAGCTGGAGCGGCGCTTCTCCCGGGTCCAAGAGGTCGTGCAGGTGCTAAGGGCTC
TCCGAGCCACGTACCAGCTCACCAAAGCCCGGCCCCGAGTGCTGCTGCAGAGCTCAGAGCCTGG
GGACCAGGGCCTCTTCGAGGCCTTCTTGGAGCCCCTGGGCACCCTGGGCTACTGTGGGGCTGTG
GGCCTGTTACCCCCAGGCGCAGCAGCTCCCTCCGGCTGGGCCCAGGCTCCACTCAGTGACACGG
CTCAAGTCTACATGGAGCTGCAGGGCCTGGTGGACCCGCAGATCCAGCTACCTCTGTTAGCCGC
CCGAAGGTACAAGTTGCAGAAGCAGCTTGACAGCCTCACAGCCAGGACCCCATCAGAAGGGGAG
GCAGGGACTCAGAGGCAACAAAAGCTTTCTTCCCTCCAGCTGGAATTGTCAAAACTGGACAAGG
CAGCCTCTCACCTCCGGCAGCTGATGGATGAGCCTCCAGCCCCAGGGAGCCCGGAGCTCTAACT
CATCATCCCCATCAGTTTTCCTCCCTCTCAGACCTGTCTTTGAGGACAAACAGATTTGTCAGCT
GTCAGGGTGCAGTGGGACGTCAGAGACTATGTGGTCCATCGCCTTCATTGTGTAAATGAGGACA
CAGACTGGCTTGGTCGCAGTGACTGTGGTGTCCTTGAGATGCTCACATTACTGCCCGGCCTGCC
TCCCACCTGGAAGTCTGGGAATGAGGAGATTGAGATAAACTTTTGAAATCCCAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001161205	(Get FASTA)	NCBI Sequence Viewer
	NP_001161206	(Get FASTA)	NCBI Sequence Viewer
	NP_065175	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH08844	(Get FASTA)	NCBI Sequence Viewer
	AAH09355	(Get FASTA)	NCBI Sequence Viewer
	AAH73838	(Get FASTA)	NCBI Sequence Viewer
	AAI12055	(Get FASTA)	NCBI Sequence Viewer
	AAI13606	(Get FASTA)	NCBI Sequence Viewer
	AAI43537	(Get FASTA)	NCBI Sequence Viewer
	AQY77387	(Get FASTA)	NCBI Sequence Viewer
	BAB15191	(Get FASTA)	NCBI Sequence Viewer
	BAB15344	(Get FASTA)	NCBI Sequence Viewer
	BAB67778	(Get FASTA)	NCBI Sequence Viewer
	BAG38088	(Get FASTA)	NCBI Sequence Viewer
	BAG57195	(Get FASTA)	NCBI Sequence Viewer
	BAG57688	(Get FASTA)	NCBI Sequence Viewer
	BAG64468	(Get FASTA)	NCBI Sequence Viewer
	BAG65557	(Get FASTA)	NCBI Sequence Viewer
	CAB59177	(Get FASTA)	NCBI Sequence Viewer
	EAX03348	(Get FASTA)	NCBI Sequence Viewer
	EAX03349	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000316092.5
	ENSP00000372860.3
	ENSP00000373032.3
	ENSP00000394190.1
	ENSP00000395255.1
	ENSP00000396754.2
	ENSP00000400867.2
	ENSP00000401775.1
	ENSP00000403749.1
	ENSP00000406721.1
	ENSP00000407805.2
	ENSP00000407946.1
	ENSP00000408591.1
	ENSP00000414807.1
	ENSP00000415560.1
	ENSP00000415729.1
	ENSP00000415752.1
	ENSP00000416390.1
	ENSP00000441000.2
	ENSP00000446608.2
	ENSP00000446839.1
	ENSP00000447141.1
	ENSP00000447179.1
	ENSP00000447478.2
	ENSP00000447763.2
	ENSP00000448002.2
	ENSP00000449382.1
	ENSP00000449456.2
	ENSP00000449862.1
	ENSP00000485818
	ENSP00000485818.1
	ENSP00000500615.1
	ENSP00000502585
	ENSP00000502585.1
GenBank Protein	Q5ST30	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_065175 ⟸ NM_020442
- Peptide Label:	isoform 2 precursor
- UniProtKB:	Q9H6R2 (UniProtKB/Swiss-Prot), Q96Q02 (UniProtKB/Swiss-Prot), Q96H77 (UniProtKB/Swiss-Prot), Q96GN2 (UniProtKB/Swiss-Prot), Q6ZV24 (UniProtKB/Swiss-Prot), Q6DKJ5 (UniProtKB/Swiss-Prot), Q5SS98 (UniProtKB/Swiss-Prot), Q5SQ96 (UniProtKB/Swiss-Prot), Q59FI1 (UniProtKB/Swiss-Prot), Q2M2A0 (UniProtKB/Swiss-Prot), F5H323 (UniProtKB/Swiss-Prot), F5GXJ0 (UniProtKB/Swiss-Prot), B4E3P5 (UniProtKB/Swiss-Prot), B4DET4 (UniProtKB/Swiss-Prot), A2ABL7 (UniProtKB/Swiss-Prot), Q9UFH7 (UniProtKB/Swiss-Prot), Q5ST30 (UniProtKB/Swiss-Prot), A0A140T8Y0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MPHLPLASFRPPFWGLRHSRGLPRFHSVSTQSEPHGSPISRRNREAKQKRLREKQATLEAEIAG ESKSPAESIKAWRPKELVLYEIPTKPGEKKDVSGPLPPAYSPRYVEAAWYPWWVREGFFKPEYQ ARLPQATGETFSMCIPPPNVTGSLHIGHALTVAIQDALVRWHRMRGDQVLWVPGSDHAGIATQA VVEKQLWKERGVRRHELSREAFLREVWQWKEAKGGEICEQLRALGASLDWDRECFTMDVGSSVA VTEAFVRLYKAGLLYRNHQLVNWSCALRSAISDIEVENRPLPGHTQLRLPGCPTPVSFGLLFSV AFPVDGEPDAEVVVGTTRPETLPGDVAVAVHPDDSRYTHLHGRQLRHPLMGQPLPLITDYAVQP HVGTGAVKVTPAHSPADAEMGARHGLSPLNVIAEDGTMTSLCGDWLQGLHRFVAREKIMSVLSE WGLFRGLQNHPMVLPICSRSGDVIEYLLKNQWFVRCQEMGARAAKAVESGALELSPSFHQKNWQ HWFSHIGDWCVSRQLWWGHQIPAYLVVEDHAQGEEDCWVVGRSEAEAREVAAELTGRPGAELTL ERDPDVLDTWFSSALFPFSALGWPQETPDLARFYPLSLLETGSDLLLFWVGRMVMLGTQLTGQL PFSKVLLHPMVRDRQGRKMSKSLGNVLDPRDIISGVEMQVLQEKLRSGNLDPAELAIVAAAQKK DFPHGIPECGTDALRFTLCSHGVQAGDLHLSVSEVQSCRHFCNKIWNALRFILNALGEKFVPQP AEELSPSSPMDAWILSRLALAAQECERGFLTRELSLVTHALHHFWLHNLCDVYLEAVKPVLWHS PRPLGPPQVLFSCADLGLRLLAPLMPFLAEELWQRLPPRPGCPPAPSISVAPYPSACSLEHWRQ PELERRFSRVQEVVQVLRALRATYQLTKARPRVLLQSSEPGDQGLFEAFLEPLGTLGYCGAVGL LPPGAAAPSGWAQAPLSDTAQVYMELQGLVDPQIQLPLLAARRYKLQKQLDSLTARTPSEGEAG TQRQQKLSSLQLELSKLDKAASHLRQLMDEPPAPGSPEL hide sequence

RefSeq Acc Id:	NP_001161205 ⟸ NM_001167733
- Peptide Label:	isoform 3
- UniProtKB:	A0A140T8Y0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MCIPPPNVTGSLHIGHALTVAIQDALVRWHRMRGDQVLWVPGSDHAGIATQAVVEKQLWKERGV RRHELSREAFLREVWQWKEAKGGEICEQLRALGASLDWDRECFTMDVGSSVAVTEAFVRLYKAG LLYRNHQLVNWSCALRSAISDIEVENRPLPGHTQLRLPGCPTPVSFGLLFSVAFPVDGEPDAEV VVGTTRPETLPGDVAVAVHPDDSRYTHLHGRQLRHPLMGQPLPLITDYAVQPHVGTGAVKVTPA HSPADAEMGARHGLSPLNVIAEDGTMTSLCGDWLQGLHRFVAREKIMSVLSEWGLFRGLQNHPM VLPICSRSGDVIEYLLKNQWFVRCQEMGARAAKAVESGALELSPSFHQKNWQHWFSHIGDWCVS RQLWWGHQIPAYLVVEDHAQGEEDCWVVGRSEAEAREVAAELTGRPGAELTLERDPDVLDTWFS SALFPFSALGWPQETPDLARFYPLSLLETGSDLLLFWVGRMVMLGTQLTGQLPFSKVLLHPMVR DRQGRKMSKSLGNVLDPRDIISGVEMQVLQEKLRSGNLDPAELAIVAAAQKKDFPHGIPECGTD ALRFTLCSHGVQAGDLHLSVSEVQSCRHFCNKIWNALRFILNALGEKFVPQPAEELSPSSPMDA WILSRLALAAQECERGFLTRELSLVTHALHHFWLHNLCDVYLEAVKPVLWHSPRPLGPPQVLFS CADLGLRLLAPLMPFLAEELWQRLPPRPGCPPAPSISVAPYPSACSLEHWRQPELERRFSRVQE VVQVLRALRATYQLTKARPRVLLQSSEPGDQGLFEAFLEPLGTLGYCGAVGLLPPGAAAPSGWA QAPLSDTAQVYMELQGLVDPQIQLPLLAARRYKLQKQLDSLTARTPSEGEAGTQRQQKLSSLQL ELSKLDKAASHLRQLMDEPPAPGSPEL hide sequence

RefSeq Acc Id:	NP_001161206 ⟸ NM_001167734
- Peptide Label:	isoform 1
- UniProtKB:	A0A1U9X9B3 (UniProtKB/TrEMBL), A0A140TA35 (UniProtKB/TrEMBL), A0A1U9X992 (UniProtKB/TrEMBL), A0A1U9X9A8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MGGKAWPRRAVGTAGGPCAEQISAPFQTLLMPHLPLASFRPPFWGLRHSRGLPRFHSVSTQSEP HGSPISRRNREAKQKRLREKQATLEAEIAGESKSPAESIKAWRPKELVLYEIPTKPGEKKDVSG PLPPAYSPRYVEAAWYPWWVREGFFKPEYQARLPQATGETFSMCIPPPNVTGSLHIGHALTVAI QDALVRWHRMRGDQVLWVPGSDHAGIATQAVVEKQLWKERGVRRHELSREAFLREVWQWKEAKG GEICEQLRALGASLDWDRECFTMDVGSSVAVTEAFVRLYKAGLLYRNHQLVNWSCALRSAISDI EVENRPLPGHTQLRLPGCPTPVSFGLLFSVAFPVDGEPDAEVVVGTTRPETLPGDVAVAVHPDD SRYTHLHGRQLRHPLMGQPLPLITDYAVQPHVGTGAVKVTPAHSPADAEMGARHGLSPLNVIAE DGTMTSLCGDWLQGLHRFVAREKIMSVLSEWGLFRGLQNHPMVLPICSRSGDVIEYLLKNQWFV RCQEMGARAAKAVESGALELSPSFHQKNWQHWFSHIGDWCVSRQLWWGHQIPAYLVVEDHAQGE EDCWVVGRSEAEAREVAAELTGRPGAELTLERDPDVLDTWFSSALFPFSALGWPQETPDLARFY PLSLLETGSDLLLFWVGRMVMLGTQLTGQLPFSKVLLHPMVRDRQGRKMSKSLGNVLDPRDIIS GVEMQVLQEKLRSGNLDPAELAIVAAAQKKDFPHGIPECGTDALRFTLCSHGVQAGDLHLSVSE VQSCRHFCNKIWNALRFILNALGEKFVPQPAEELSPSSPMDAWILSRLALAAQECERGFLTREL SLVTHALHHFWLHNLCDVYLEAVKPVLWHSPRPLGPPQVLFSCADLGLRLLAPLMPFLAEELWQ RLPPRPGCPPAPSISVAPYPSACSLEHWRQPELERRFSRVQEVVQVLRALRATYQLTKARPRVL LQSSEPGDQGLFEAFLEPLGTLGYCGAVGLLPPGAAAPSGWAQAPLSDTAQVYMELQGLVDPQI QLPLLAARRYKLQKQLDSLTARTPSEGEAGTQRQQKLSSLQLELSKLDKAASHLRQLMDEPPAP GSPEL hide sequence

RefSeq Acc Id:

ENSP00000441000 ⟸ ENST00000541562

RefSeq Acc Id:

ENSP00000403749 ⟸ ENST00000428017

RefSeq Acc Id:

ENSP00000316092 ⟸ ENST00000321897

RefSeq Acc Id:

ENSP00000485818 ⟸ ENST00000625423

RefSeq Acc Id:

ENSP00000416390 ⟸ ENST00000421263

RefSeq Acc Id:

ENSP00000500615 ⟸ ENST00000672801

RefSeq Acc Id:

ENSP00000502585 ⟸ ENST00000676266

Protein Domains

Aminoacyl-tRNA synthetase class Ia Methionyl/Valyl/Leucyl/Isoleucyl-tRNA synthetase

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q5ST30-F1-model_v2	AlphaFold	Q5ST30	1-1063	view protein structure

Promoters

RGD ID:

6872440

Promoter ID:

EPDNEW_H9385

Type:

initiation region

Name:

VARS2_1

Description:

valyl-tRNA synthetase 2, mitochondrial

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H9386

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	30,914,261 - 30,914,321	EPDNEW

RGD ID:

6872442

Promoter ID:

EPDNEW_H9386

Type:

initiation region

Name:

VARS2_2

Description:

valyl-tRNA synthetase 2, mitochondrial

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H9385

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	30,914,427 - 30,914,487	EPDNEW

RGD ID:

6804188

Promoter ID:

HG_KWN:52873

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

ENST00000376316, OTTHUMT00000076565, OTTHUMT00000257590, UC003NSA.1, UC003NSB.1, UC010JSF.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	30,983,621 - 30,984,121 (+)	MPROMDB

RGD ID:

6805014

Promoter ID:

HG_KWN:52876

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000376306, NM_001167733, NM_001167734, NM_020442, OTTHUMT00000257811, OTTHUMT00000257812, UC003NSC.1, UC003NSD.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	30,988,966 - 30,990,167 (+)	MPROMDB

RGD ID:

6804992

Promoter ID:

HG_KWN:52877

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, Lymphoblastoid

Transcripts:

OTTHUMT00000257813

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	30,991,199 - 30,991,699 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:21642	AgrOrtholog
COSMIC	VARS2	COSMIC
Ensembl Genes	ENSG00000137411	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000206476	UniProtKB/TrEMBL
	ENSG00000223494	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000230985	UniProtKB/TrEMBL
	ENSG00000234032	UniProtKB/TrEMBL
	ENSG00000236178	UniProtKB/TrEMBL
Ensembl Transcript	ENST00000321897.9	UniProtKB/Swiss-Prot
	ENST00000383369.7	UniProtKB/TrEMBL
	ENST00000383540.7	UniProtKB/TrEMBL
	ENST00000411697.5	UniProtKB/TrEMBL
	ENST00000414570.5	UniProtKB/TrEMBL
	ENST00000415079.6	UniProtKB/Swiss-Prot
	ENST00000416187.5	UniProtKB/TrEMBL
	ENST00000421263.1	UniProtKB/TrEMBL
	ENST00000425563.5	UniProtKB/TrEMBL
	ENST00000428017.5	UniProtKB/TrEMBL
	ENST00000428577.6	UniProtKB/TrEMBL
	ENST00000431578.5	UniProtKB/TrEMBL
	ENST00000433908.5	UniProtKB/TrEMBL
	ENST00000434089.5	UniProtKB/TrEMBL
	ENST00000443384.5	UniProtKB/TrEMBL
	ENST00000446577.5	UniProtKB/TrEMBL
	ENST00000450090.6	UniProtKB/TrEMBL
	ENST00000452966.5	UniProtKB/TrEMBL
	ENST00000541562.6	UniProtKB/Swiss-Prot
	ENST00000546854.5	UniProtKB/Swiss-Prot
	ENST00000547340.2	UniProtKB/TrEMBL
	ENST00000548165.2	UniProtKB/TrEMBL
	ENST00000548842.5	UniProtKB/TrEMBL
	ENST00000549458.5	UniProtKB/TrEMBL
	ENST00000549900.2	UniProtKB/TrEMBL
	ENST00000550773.2	UniProtKB/TrEMBL
	ENST00000551709.2	UniProtKB/TrEMBL
	ENST00000552560.5	UniProtKB/TrEMBL
	ENST00000553245.5	UniProtKB/TrEMBL
	ENST00000625423	ENTREZGENE
	ENST00000625423.2	UniProtKB/Swiss-Prot
	ENST00000672801.1	UniProtKB/TrEMBL
	ENST00000676266	ENTREZGENE
	ENST00000676266.1	UniProtKB/Swiss-Prot
Gene3D-CATH	3.40.50.620	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	3.90.740.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000137411	GTEx
	ENSG00000206476	GTEx
	ENSG00000223494	GTEx
	ENSG00000230985	GTEx
	ENSG00000234032	GTEx
	ENSG00000236178	GTEx
HGNC ID	HGNC:21642	ENTREZGENE
Human Proteome Map	VARS2	Human Proteome Map
InterPro	aa-tRNA-synth_I_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	aa-tRNA-synth_Ia	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Anticodon_Ia_Val	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	M/V/L/I-tRNA-synth_anticd-bd	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Rossmann-like_a/b/a_fold	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	tRNAsynth_Ia_anticodon-bd	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Val/Leu/Ile-tRNA-synth_edit	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Valyl-tRNA_ligase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:57176	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	57176	ENTREZGENE
OMIM	612802	OMIM
PANTHER	PTHR11946	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	VALINE--TRNA LIGASE, MITOCHONDRIAL	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Anticodon_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	tRNA-synt_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA164742816	PharmGKB
PRINTS	TRNASYNTHVAL	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	AA_TRNA_LIGASE_I	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	Nucleotidylyl transferase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF47323	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF50677	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A0A0MTG1_HUMAN	UniProtKB/TrEMBL
	A0A0G2JIA5_HUMAN	UniProtKB/TrEMBL
	A0A0G2JL52_HUMAN	UniProtKB/TrEMBL
	A0A140T8Y0	ENTREZGENE, UniProtKB/TrEMBL
	A0A140TA35	ENTREZGENE, UniProtKB/TrEMBL
	A0A140TA36_HUMAN	UniProtKB/TrEMBL
	A0A140TA40_HUMAN	UniProtKB/TrEMBL
	A0A140TA45_HUMAN	UniProtKB/TrEMBL
	A0A1U9X992	ENTREZGENE
	A0A1U9X9A8	ENTREZGENE
	A0A1U9X9B3	ENTREZGENE, UniProtKB/TrEMBL
	A2ABL6_HUMAN	UniProtKB/TrEMBL
	A2ABL7	ENTREZGENE
	B4DET4	ENTREZGENE
	B4DG77_HUMAN	UniProtKB/TrEMBL
	B4E0K6_HUMAN	UniProtKB/TrEMBL
	B4E3P5	ENTREZGENE
	B7ZCJ6_HUMAN	UniProtKB/TrEMBL
	B7ZL25_HUMAN	UniProtKB/TrEMBL
	F5GXJ0	ENTREZGENE
	F5H323	ENTREZGENE
	Q2M2A0	ENTREZGENE
	Q59FI1	ENTREZGENE
	Q5SQ96	ENTREZGENE
	Q5SS98	ENTREZGENE
	Q5ST30	ENTREZGENE
	Q6DKJ5	ENTREZGENE
	Q6ZV24	ENTREZGENE
	Q96GN2	ENTREZGENE
	Q96H77	ENTREZGENE
	Q96Q02	ENTREZGENE
	Q9H6R2	ENTREZGENE
	Q9UFH7	ENTREZGENE
	SYVM_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	A0A1U9X990	UniProtKB/TrEMBL
	A0A1U9X992	UniProtKB/TrEMBL
	A0A1U9X994	UniProtKB/TrEMBL
	A0A1U9X9A8	UniProtKB/TrEMBL
	A2ABL7	UniProtKB/Swiss-Prot
	B4DET4	UniProtKB/Swiss-Prot
	B4E3P5	UniProtKB/Swiss-Prot
	F5GXJ0	UniProtKB/Swiss-Prot
	F5H323	UniProtKB/Swiss-Prot
	Q2M2A0	UniProtKB/Swiss-Prot
	Q59FI1	UniProtKB/Swiss-Prot
	Q5SQ96	UniProtKB/Swiss-Prot
	Q5SS98	UniProtKB/Swiss-Prot
	Q6DKJ5	UniProtKB/Swiss-Prot
	Q6ZV24	UniProtKB/Swiss-Prot
	Q96GN2	UniProtKB/Swiss-Prot
	Q96H77	UniProtKB/Swiss-Prot
	Q96Q02	UniProtKB/Swiss-Prot
	Q9H6R2	UniProtKB/Swiss-Prot
	Q9UFH7	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2012-10-30	VARS2	valyl-tRNA synthetase 2, mitochondrial		valyl-tRNA synthetase 2, mitochondrial (putative)	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 - OMIM

Imported Annotations - KEGG (archival)

External Pathway Database Links

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

External Pathway Database Links

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

External Pathway Database Links

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

External Pathway Database Links