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Gene: MESP2 (mesoderm posterior bHLH transcription factor 2) Homo sapiens

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Symbol:

MESP2

Name:

mesoderm posterior bHLH transcription factor 2

RGD ID:

1606451

HGNC Page

HGNC:29659

Description:

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in several processes, including mesoderm formation; regulation of transcription by RNA polymerase II; and somite rostral/caudal axis specification. Predicted to act upstream of or within several processes, including mesodermal cell migration; regulation of gene expression; and somitogenesis. Predicted to be located in chromatin. Predicted to be active in nucleus. Implicated in spondylocostal dysostosis 2.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

bHLHc6; class C basic helix-loop-helix protein 6; mesoderm posterior 2 homolog; mesoderm posterior basic helix-loop-helix transcription factor 2; mesoderm posterior protein 2; SCDO2

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	15	89,776,332 - 89,778,754 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	15	89,760,591 - 89,778,754 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	15	90,319,563 - 90,321,985 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	15	88,120,593 - 88,122,989 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	15	66,722,377 - 66,724,773 (+)	NCBI		Celera
Cytogenetic Map	15	q26.1	NCBI
HuRef	15	66,432,299 - 66,434,671 (+)	NCBI		HuRef
CHM1_1	15	90,160,596 - 90,162,992 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	15	87,532,244 - 87,534,642 (+)	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

Bloom syndrome (IAGP)

colorectal cancer (IAGP)

D-2-hydroxyglutaric aciduria 2 (IAGP)

genetic disease (IAGP)

spondylocostal dysostosis (IAGP)

spondylocostal dysostosis 1 (IAGP)

spondylocostal dysostosis 2 (IAGP)

spondylocostal dysostosis 5 (IAGP)

Spondylocostal Dysostosis, Autosomal Recessive (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-catechin (EXP)

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

2,3',4,4',5-Pentachlorobiphenyl (ISO)

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

4,4'-sulfonyldiphenol (EXP)

5-fluorouracil (EXP)

abacavir (EXP)

aldehydo-D-glucose (ISO)

all-trans-retinoic acid (EXP,ISO)

atrazine (ISO)

benzalkonium chloride (ISO)

benzo[a]pyrene (EXP,ISO)

bis(2-chloroethyl) sulfide (ISO)

bisphenol A (ISO)

CHIR 99021 (EXP)

D-glucose (ISO)

dolutegravir (ISO)

Doxylamine succinate (EXP)

flusilazole (ISO)

fructose (ISO)

glucose (ISO)

hexaconazole (ISO)

inulin (ISO)

isotretinoin (EXP)

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

Monobutylphthalate (ISO)

nilotinib (EXP)

paracetamol (ISO)

perfluorooctane-1-sulfonic acid (ISO)

SB 431542 (EXP)

sodium arsenite (EXP)

succimer (ISO)

thalidomide (EXP)

thioacetamide (ISO)

triadimefon (ISO)

valproic acid (EXP,ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

heart morphogenesis (IBA)

mesoderm formation (IBA)

mesodermal cell migration (ISO)

Notch signaling pathway (IEA,ISO)

positive regulation of transcription by RNA polymerase II (ISO)

regulation of transcription by RNA polymerase II (IBA)

signal transduction involved in regulation of gene expression (ISO)

somite rostral/caudal axis specification (IBA,ISO)

somitogenesis (ISO)

Cellular Component

chromatin (ISA)

nucleus (IBA,IEA)

Molecular Function

DNA binding (IEA)

DNA-binding transcription activator activity, RNA polymerase II-specific (ISO)

DNA-binding transcription factor activity (IEA)

DNA-binding transcription factor activity, RNA polymerase II-specific (IBA,ISA)

protein dimerization activity (IEA)

RNA polymerase II cis-regulatory region sequence-specific DNA binding (IBA)

sequence-specific double-stranded DNA binding (IDA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abdominal distention (IAGP)

Abnormal cardiovascular system morphology (IAGP)

Abnormal form of the vertebral bodies (IAGP)

Abnormal intervertebral disk morphology (IAGP)

Abnormal morphology of female internal genitalia (IAGP)

Abnormal odontoid process morphology (IAGP)

Abnormal rib morphology (IAGP)

Abnormality of immune system physiology (IAGP)

Abnormality of the ureter (IAGP)

Anomalous pulmonary venous return (IAGP)

Anteverted nares (IAGP)

Autosomal recessive inheritance (IAGP)

Back pain (IAGP)

Block vertebrae (IAGP)

Broad forehead (IAGP)

Camptodactyly of finger (IAGP)

Cleft palate (IAGP)

Congenital diaphragmatic hernia (IAGP)

Cryptorchidism (IAGP)

Cystic hygroma (IAGP)

Death in infancy (IAGP)

Depressed nasal bridge (IAGP)

Disproportionate short-trunk short stature (IAGP)

Fetal onset (IAGP)

Finger syndactyly (IAGP)

Hemivertebrae (IAGP)

Hypospadias (IAGP)

Inguinal hernia (IAGP)

Intellectual disability (IAGP)

Intrauterine growth retardation (IAGP)

Kyphoscoliosis (IAGP)

Kyphosis (IAGP)

Long philtrum (IAGP)

Macrocephaly (IAGP)

Meningocele (IAGP)

Microcephaly (IAGP)

Posteriorly rotated ears (IAGP)

Prominent occiput (IAGP)

Protuberant abdomen (IAGP)

Recurrent respiratory infections (IAGP)

Respiratory insufficiency (IAGP)

Restrictive ventilatory defect (IAGP)

Rib fusion (IAGP)

Rib segmentation abnormalities (IAGP)

Rib spur (IAGP)

Scoliosis (IAGP)

Severe short stature (IAGP)

Short neck (IAGP)

Short stature (IAGP)

Short thorax (IAGP)

Spina bifida occulta (IAGP)

Umbilical hernia (IAGP)

Urogenital fistula (IAGP)

Vertebral clefting (IAGP)

Vertebral fusion (IAGP)

Vertebral segmentation defect (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
4.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

Additional References at PubMed

PMID:11578861	PMID:12477932	PMID:14516699	PMID:15122512	PMID:16996494	PMID:18485326	PMID:19274049	PMID:20301533	PMID:20301771	PMID:21873635	PMID:22744456	PMID:23376485
PMID:26186194	PMID:28473536	PMID:28514442	PMID:32572506	PMID:33961781

Genomics

Comparative Map Data

MESP2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	15	89,776,332 - 89,778,754 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	15	89,760,591 - 89,778,754 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	15	90,319,563 - 90,321,985 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	15	88,120,593 - 88,122,989 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	15	66,722,377 - 66,724,773 (+)	NCBI		Celera
Cytogenetic Map	15	q26.1	NCBI
HuRef	15	66,432,299 - 66,434,671 (+)	NCBI		HuRef
CHM1_1	15	90,160,596 - 90,162,992 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	15	87,532,244 - 87,534,642 (+)	NCBI		T2T-CHM13v2.0

Mesp2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	79,460,475 - 79,463,179 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	79,460,475 - 79,463,187 (+)	Ensembl		GRCm39 Ensembl
GRCm38	7	79,810,727 - 79,813,431 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	79,810,727 - 79,813,439 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	86,955,613 - 86,958,317 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	79,684,240 - 79,686,946 (+)	NCBI		MGSCv36	mm8
Celera	7	77,209,936 - 77,212,640 (+)	NCBI		Celera
Cytogenetic Map	7	D2	NCBI
cM Map	7	45.18	NCBI

Mesp2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	143,165,914 - 143,168,520 (+)	NCBI		GRCr8
mRatBN7.2	1	133,756,601 - 133,759,207 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	133,756,601 - 133,759,198 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	141,665,735 - 141,668,332 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	148,835,140 - 148,837,737 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	141,752,836 - 141,755,433 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	141,550,633 - 141,553,239 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	141,550,633 - 141,553,230 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	142,511,695 - 142,514,301 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	135,590,020 - 135,592,626 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	135,668,399 - 135,670,416 (+)	NCBI
Celera	1	125,819,906 - 125,822,512 (+)	NCBI		Celera
Cytogenetic Map	1	q31	NCBI

Mesp2
(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	NW_004955416	15,447,959 - 15,450,209 (-)	NCBI	ChiLan1.0	ChiLan1.0

MESP2
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	16	79,327,064 - 79,330,074 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	15	83,029,385 - 83,031,781 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	15	68,470,528 - 68,473,209 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	15	87,673,337 - 87,675,698 (+)	NCBI	panpan1.1	PanPan1.1	panPan2

MESP2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	3	52,757,581 - 52,759,987 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	3	52,756,836 - 52,760,004 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	3	55,391,161 - 55,393,462 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	3	53,173,970 - 53,176,273 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	3	53,173,970 - 53,176,717 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	3	52,695,769 - 52,698,068 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	3	52,905,716 - 52,908,057 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	3	53,246,094 - 53,248,395 (+)	NCBI		UU_Cfam_GSD_1.0

Mesp2
(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_024408640	130,777,038 - 130,779,436 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936483	15,555,084 - 15,557,060 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936483	15,555,084 - 15,557,060 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MESP2
(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	55,342,935 - 55,345,879 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	7	55,341,941 - 55,345,824 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	7	60,231,273 - 60,234,781 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

MESP2
(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	29	8,313,022 - 8,316,116 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666059	38,495,779 - 38,498,116 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Mesp2
(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_004624768	16,830,795 - 16,834,798 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624768	16,832,008 - 16,834,697 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in MESP2
430 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001039958.2(MESP2):c.197C>G (p.Ala66Gly)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000032154]\|not provided [RCV000947645]\|not specified [RCV000241739]	Chr15:89776554 [GRCh38] Chr15:90319785 [GRCh37] Chr15:15q26.1	benign\|likely benign
NM_001039958.2(MESP2):c.241G>T (p.Gly81Ter)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000032155]\|not provided [RCV001389330]	Chr15:89776598 [GRCh38] Chr15:90319829 [GRCh37] Chr15:15q26.1	pathogenic\|likely pathogenic
NM_001039958.2(MESP2):c.271A>G (p.Lys91Glu)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000032156]	Chr15:89776628 [GRCh38] Chr15:90319859 [GRCh37] Chr15:15q26.1	pathogenic\|not provided
NM_001039958.2(MESP2):c.385A>T (p.Ile129Phe)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000032157]	Chr15:89776742 [GRCh38] Chr15:90319973 [GRCh37] Chr15:15q26.1	pathogenic\|not provided
NM_001039958.1(MESP2):c.535GGGCAGGGGCAA[2_4]	microsatellite	Spondylocostal dysostosis 2, autosomal recessive [RCV000032158]	Chr15:89776892..89776903 [GRCh38] Chr15:90320123..90320134 [GRCh37] Chr15:15q26.1	benign
NM_001039958.2(MESP2):c.670T>C (p.Ser224Pro)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000032159]	Chr15:89777027 [GRCh38] Chr15:90320258 [GRCh37] Chr15:15q26.1	benign
NM_001039958.2(MESP2):c.500_503dup (p.Gly169fs)	duplication	Spondylocostal dysostosis 2, autosomal recessive [RCV000005492]	Chr15:89776853..89776854 [GRCh38] Chr15:90320084..90320085 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.307G>T (p.Glu103Ter)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000005493]\|not provided [RCV000760454]	Chr15:89776664 [GRCh38] Chr15:90319895 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.373C>G (p.Leu125Val)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000005494]	Chr15:89776730 [GRCh38] Chr15:90319961 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.700G>T (p.Glu234Ter)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000005495]	Chr15:89777057 [GRCh38] Chr15:90320288 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.956_957insAG (p.Leu320fs)	insertion	not provided [RCV000722651]	Chr15:89778096..89778097 [GRCh38] Chr15:90321327..90321328 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.*9G>A	single nucleotide variant	MESP2-related disorder [RCV003953297]\|not provided [RCV000728403]	Chr15:89778343 [GRCh38] Chr15:90321574 [GRCh37] Chr15:15q26.1	likely benign\|uncertain significance
NM_001039958.2(MESP2):c.247C>A (p.Arg83=)	single nucleotide variant	not provided [RCV001495086]	Chr15:89776604 [GRCh38] Chr15:90319835 [GRCh37] Chr15:15q26.1	likely benign
GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	copy number gain	See cases [RCV000052354]	Chr15:89679237..101978958 [GRCh38] Chr15:90222468..102519161 [GRCh37] Chr15:88023472..100336684 [NCBI36] Chr15:15q26.1-26.3	pathogenic
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]\|See cases [RCV000052346]	Chr15:75307767..101723215 [GRCh38] Chr15:75600108..102263418 [GRCh37] Chr15:73387161..100080941 [NCBI36] Chr15:15q24.2-26.3	pathogenic
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3	copy number gain	See cases [RCV000052347]	Chr15:77543797..101843411 [GRCh38] Chr15:77836139..102383614 [GRCh37] Chr15:75623194..100201137 [NCBI36] Chr15:15q24.3-26.3	pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	copy number gain	See cases [RCV000052352]	Chr15:84169153..101904929 [GRCh38] Chr15:84837905..102445132 [GRCh37] Chr15:82628909..100262655 [NCBI36] Chr15:15q25.2-26.3	pathogenic
NM_001039958.2(MESP2):c.1073_1074insAGAGGACCAGAGGACC (p.Gly359fs)	insertion	Spondylocostal dysostosis 2, autosomal recessive [RCV000668853]	Chr15:89778208..89778209 [GRCh38] Chr15:90321439..90321440 [GRCh37] Chr15:15q26.1	uncertain significance
GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	copy number gain	See cases [RCV000135858]	Chr15:83711377..101843270 [GRCh38] Chr15:84380129..102383473 [GRCh37] Chr15:82171133..100200996 [NCBI36] Chr15:15q25.2-26.3	pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	copy number gain	See cases [RCV000135568]	Chr15:87904735..101843270 [GRCh38] Chr15:88447966..102383473 [GRCh37] Chr15:86248970..100200996 [NCBI36] Chr15:15q25.3-26.3	pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	copy number gain	See cases [RCV000136849]	Chr15:82859676..101810992 [GRCh38] Chr15:83528428..102351195 [GRCh37] Chr15:81325482..100168718 [NCBI36] Chr15:15q25.2-26.3	pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	copy number gain	See cases [RCV000137264]	Chr15:85826665..101920998 [GRCh38] Chr15:86369896..102461201 [GRCh37] Chr15:84170900..100278724 [NCBI36] Chr15:15q25.3-26.3	pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	copy number gain	See cases [RCV000141899]	Chr15:85397539..101888909 [GRCh38] Chr15:85940770..102429112 [GRCh37] Chr15:83741774..100246635 [NCBI36] Chr15:15q25.3-26.3	pathogenic
GRCh38/hg38 15q26.1(chr15:89738724-89788051)x1	copy number loss	See cases [RCV000142209]	Chr15:89738724..89788051 [GRCh38] Chr15:90281955..90331282 [GRCh37] Chr15:88082959..88132286 [NCBI36] Chr15:15q26.1	uncertain significance
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	copy number gain	See cases [RCV000143019]	Chr15:72154949..101920998 [GRCh38] Chr15:72447290..102461201 [GRCh37] Chr15:70234344..100278724 [NCBI36] Chr15:15q23-26.3	pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	copy number gain	See cases [RCV000142915]	Chr15:59828460..101920998 [GRCh38] Chr15:60120659..102461201 [GRCh37] Chr15:57907951..100278724 [NCBI36] Chr15:15q22.2-26.3	pathogenic
GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	copy number gain	See cases [RCV000142727]	Chr15:88676575..98364743 [GRCh38] Chr15:89219806..98907972 [GRCh37] Chr15:87020810..96725495 [NCBI36] Chr15:15q26.1-26.3	pathogenic
NM_001039958.2(MESP2):c.737G>A (p.Trp246Ter)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000669986]	Chr15:89777094 [GRCh38] Chr15:90320325 [GRCh37] Chr15:15q26.1	likely pathogenic
NM_001039958.2(MESP2):c.1151G>A (p.Trp384Ter)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000670306]	Chr15:89778291 [GRCh38] Chr15:90321522 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.1(MESP2):c.547_570del24insGGGCAGGGGCAA (p.Gln202_Gly205del)	indel	not specified [RCV000239123]	Chr15:89776904..89776927 [GRCh38] Chr15:90320135..90320158 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.306C>A (p.His102Gln)	single nucleotide variant	MESP2-related disorder [RCV003957433]\|Spondylocostal dysostosis 2, autosomal recessive [RCV000309067]\|not provided [RCV000903908]\|not specified [RCV000390297]	Chr15:89776663 [GRCh38] Chr15:90319894 [GRCh37] Chr15:15q26.1	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001039958.2(MESP2):c.546_557del (p.180_181QG[11])	deletion	Spondylocostal dysostosis 2, autosomal recessive [RCV000669175]	Chr15:89776892..89776903 [GRCh38] Chr15:90320123..90320134 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.600_605del (p.180_181QG[12])	deletion	Spondylocostal dysostosis 2, autosomal recessive [RCV000669905]	Chr15:89776955..89776960 [GRCh38] Chr15:90320186..90320191 [GRCh37] Chr15:15q26.1	uncertain significance
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	copy number gain	See cases [RCV000511332]	Chr15:76061144..102429112 [GRCh37] Chr15:15q24.2-26.3	pathogenic
NM_001039958.2(MESP2):c.908T>C (p.Leu303Pro)	single nucleotide variant	MESP2-related disorder [RCV003891882]\|Spondylocostal dysostosis 2, autosomal recessive [RCV000401898]\|not provided [RCV000960955]	Chr15:89777265 [GRCh38] Chr15:90320496 [GRCh37] Chr15:15q26.1	benign\|likely benign
NM_001039958.2(MESP2):c.671C>T (p.Ser224Phe)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000671997]\|not provided [RCV001520841]\|not specified [RCV000243816]	Chr15:89777028 [GRCh38] Chr15:90320259 [GRCh37] Chr15:15q26.1	benign\|likely benign
NM_001039958.2(MESP2):c.885G>C (p.Thr295=)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000674075]\|not provided [RCV001445296]\|not specified [RCV000248785]	Chr15:89777242 [GRCh38] Chr15:90320473 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.561GCAGGGGCAAGG[1] (p.180QG[11])	microsatellite	not specified [RCV000248893]	Chr15:89776916..89776927 [GRCh38] Chr15:90320147..90320158 [GRCh37] Chr15:15q26.1	benign
NM_001039958.2(MESP2):c.585ACAGGGGCAAGG[1] (p.180QG[11])	microsatellite	not specified [RCV000253838]	Chr15:89776931..89776942 [GRCh38] Chr15:90320162..90320173 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.561_584del (p.180_181QG[9])	deletion	not specified [RCV000244299]	Chr15:89776916..89776939 [GRCh38] Chr15:90320147..90320170 [GRCh37] Chr15:15q26.1	benign
NM_001039958.2(MESP2):c.531G>A (p.Ala177=)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000305510]\|not provided [RCV001521865]\|not specified [RCV000244398]	Chr15:89776888 [GRCh38] Chr15:90320119 [GRCh37] Chr15:15q26.1	benign\|likely benign
NM_001039958.2(MESP2):c.-11G>A	single nucleotide variant	Spondylocostal dysostosis [RCV000401541]\|not provided [RCV004703527]\|not specified [RCV000249757]	Chr15:89776347 [GRCh38] Chr15:90319578 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.558G>A (p.Gln186=)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000374533]\|not provided [RCV001640504]\|not specified [RCV000252302]	Chr15:89776915 [GRCh38] Chr15:90320146 [GRCh37] Chr15:15q26.1	benign\|likely benign
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	copy number gain	See cases [RCV000240602]	Chr15:64637227..102509910 [GRCh37] Chr15:15q22.31-26.3	pathogenic
NM_001039958.2(MESP2):c.957G>A (p.Ser319=)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000664884]\|not provided [RCV000932131]\|not specified [RCV000245402]	Chr15:89778097 [GRCh38] Chr15:90321328 [GRCh37] Chr15:15q26.1	likely benign\|conflicting interpretations of pathogenicity
NM_001039958.2(MESP2):c.549_584del (p.180_181QG[7])	deletion	Spondylocostal dysostosis 2, autosomal recessive [RCV001835742]\|not provided [RCV000514201]\|not specified [RCV000247765]	Chr15:89776892..89776927 [GRCh38] Chr15:90320123..90320158 [GRCh37] Chr15:15q26.1	benign\|likely benign
NM_001039958.2(MESP2):c.412G>A (p.Val138Met)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000363642]\|not provided [RCV001521049]\|not specified [RCV000247930]	Chr15:89776769 [GRCh38] Chr15:90320000 [GRCh37] Chr15:15q26.1	benign
NM_001039958.2(MESP2):c.498C>G (p.Pro166=)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000268957]\|not provided [RCV000971044]\|not specified [RCV000252907]	Chr15:89776855 [GRCh38] Chr15:90320086 [GRCh37] Chr15:15q26.1	benign\|likely benign
NM_001039958.2(MESP2):c.*326C>T	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000300234]	Chr15:89778660 [GRCh38] Chr15:90321891 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.1080C>T (p.Ala360=)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000288460]\|not provided [RCV000980383]	Chr15:89778220 [GRCh38] Chr15:90321451 [GRCh37] Chr15:15q26.1	likely benign\|uncertain significance
NM_001039958.2(MESP2):c.717G>C (p.Gly239=)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000291857]\|not provided [RCV000949808]	Chr15:89777074 [GRCh38] Chr15:90320305 [GRCh37] Chr15:15q26.1	benign\|likely benign
NM_001039958.2(MESP2):c.597A>G (p.Gly199=)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000295228]\|not provided [RCV001487160]	Chr15:89776954 [GRCh38] Chr15:90320185 [GRCh37] Chr15:15q26.1	likely benign\|uncertain significance
NM_001039958.2(MESP2):c.561G>A (p.Gly187=)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000260981]\|not provided [RCV000942222]	Chr15:89776918 [GRCh38] Chr15:90320149 [GRCh37] Chr15:15q26.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001039958.2(MESP2):c.556C>G (p.Gln186Glu)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000319815]	Chr15:89776913 [GRCh38] Chr15:90320144 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.554G>C (p.Gly185Ala)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000264684]	Chr15:89776911 [GRCh38] Chr15:90320142 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.*101G>C	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000343460]	Chr15:89778435 [GRCh38] Chr15:90321666 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.185G>A (p.Arg62Gln)	single nucleotide variant	Inborn genetic diseases [RCV002522810]\|MESP2-related disorder [RCV003920337]\|Spondylocostal dysostosis 2, autosomal recessive [RCV000348753]\|not provided [RCV000909848]	Chr15:89776542 [GRCh38] Chr15:90319773 [GRCh37] Chr15:15q26.1	benign\|likely benign\|uncertain significance
NM_001039958.2(MESP2):c.602G>A (p.Gly201Glu)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000350193]	Chr15:89776959 [GRCh38] Chr15:90320190 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.*107T>C	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000406456]\|not provided [RCV004693251]	Chr15:89778441 [GRCh38] Chr15:90321672 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.*182C>T	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000358632]	Chr15:89778516 [GRCh38] Chr15:90321747 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.573G>A (p.Gly191=)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000316442]\|not specified [RCV000455241]	Chr15:89776930 [GRCh38] Chr15:90320161 [GRCh37] Chr15:15q26.1	benign\|likely benign\|uncertain significance
NM_001039958.2(MESP2):c.585A>G (p.Gly195=)	single nucleotide variant	MESP2-related disorder [RCV003957641]\|Spondylocostal dysostosis 2, autosomal recessive [RCV000389611]\|not provided [RCV004693250]	Chr15:89776942 [GRCh38] Chr15:90320173 [GRCh37] Chr15:15q26.1	benign\|uncertain significance
NM_001039958.2(MESP2):c.534GGGGCAGGGGCAAGGGCAGGGGCA[1] (p.180QG[9])	microsatellite	Spondylocostal dysostosis 2, autosomal recessive [RCV001833306]\|not provided [RCV001683153]\|not specified [RCV000269041]	Chr15:89776890..89776913 [GRCh38] Chr15:90320121..90320144 [GRCh37] Chr15:15q26.1	benign
NM_001039958.2(MESP2):c.549G>A (p.Gly183=)	single nucleotide variant	not provided [RCV002518016]\|not specified [RCV000408365]	Chr15:89776906 [GRCh38] Chr15:90320137 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.183C>T (p.Ser61=)	single nucleotide variant	MESP2-related disorder [RCV003928809]\|Spondylocostal dysostosis 2, autosomal recessive [RCV001278302]\|not provided [RCV001498019]	Chr15:89776540 [GRCh38] Chr15:90319771 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.170C>G (p.Pro57Arg)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001278301]	Chr15:89776527 [GRCh38] Chr15:90319758 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.132_134dup	duplication	Spondylocostal dysostosis [RCV000302725]\|not provided [RCV004693252]	Chr15:89778464..89778465 [GRCh38] Chr15:90321695..90321696 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.791G>A (p.Gly264Glu)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000346881]	Chr15:89777148 [GRCh38] Chr15:90320379 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.552GGGGCA[1] (p.180QG[11])	microsatellite	Spondylocostal dysostosis 2, autosomal recessive [RCV001272528]\|Spondylocostal dysostosis [RCV000360187]\|not provided [RCV000947646]\|not specified [RCV000389256]	Chr15:89776904..89776915 [GRCh38] Chr15:90320135..90320146 [GRCh37] Chr15:15q26.1	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001039958.2(MESP2):c.*431C>T	single nucleotide variant	Spondylocostal dysostosis [RCV000280139]\|not provided [RCV004715132]	Chr15:89778765 [GRCh38] Chr15:90321996 [GRCh37] Chr15:15q26.1	benign
NM_001039958.2(MESP2):c.*210C>G	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000395831]	Chr15:89778544 [GRCh38] Chr15:90321775 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.1073C>T (p.Pro358Leu)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001120119]	Chr15:89778213 [GRCh38] Chr15:90321444 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.*169G>A	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001120123]	Chr15:89778503 [GRCh38] Chr15:90321734 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.475C>T (p.Pro159Ser)	single nucleotide variant	not provided [RCV000591174]	Chr15:89776832 [GRCh38] Chr15:90320063 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.218G>C (p.Arg73Pro)	single nucleotide variant	not provided [RCV000730155]	Chr15:89776575 [GRCh38] Chr15:90319806 [GRCh37] Chr15:15q26.1	uncertain significance
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	copy number gain	not provided [RCV000415836]	Chr15:59297293..102480888 [GRCh37] Chr15:15q22.1-26.3	likely pathogenic
NM_001039958.2(MESP2):c.525G>T (p.Thr175=)	single nucleotide variant	not provided [RCV000734475]	Chr15:89776882 [GRCh38] Chr15:90320113 [GRCh37] Chr15:15q26.1	uncertain significance
GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3	copy number gain	See cases [RCV000449119]	Chr15:85089467..102495441 [GRCh37] Chr15:15q25.2-26.3	pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	copy number gain	See cases [RCV000447123]	Chr15:41745084..102354798 [GRCh37] Chr15:15q15.1-26.3	pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:89924847-102429112)x3	copy number gain	See cases [RCV000445978]	Chr15:89924847..102429112 [GRCh37] Chr15:15q26.1-26.3	pathogenic
GRCh37/hg19 15q25.1-26.3(chr15:80648093-102429112)x3	copy number gain	See cases [RCV000445705]	Chr15:80648093..102429112 [GRCh37] Chr15:15q25.1-26.3	pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	copy number gain	See cases [RCV000447765]	Chr15:20733395..102511616 [GRCh37] Chr15:15q11.2-26.3	pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3	copy number gain	See cases [RCV000448044]	Chr15:86148286..102511616 [GRCh37] Chr15:15q25.3-26.3	pathogenic
GRCh37/hg19 15q25.3-26.1(chr15:88295992-94215607)x1	copy number loss	See cases [RCV000448680]	Chr15:88295992..94215607 [GRCh37] Chr15:15q25.3-26.1	pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	copy number gain	See cases [RCV000510717]	Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3	pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	copy number gain	See cases [RCV000512019]	Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3	pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3	copy number gain	See cases [RCV000511629]	Chr15:86899001..98734014 [GRCh37] Chr15:15q25.3-26.3	likely pathogenic
NM_001039958.2(MESP2):c.1100_1101insT (p.Ser368fs)	insertion	Spondylocostal dysostosis 2, autosomal recessive [RCV000669381]	Chr15:89778240..89778241 [GRCh38] Chr15:90321471..90321472 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.250C>T (p.Gln84Ter)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000673463]	Chr15:89776607 [GRCh38] Chr15:90319838 [GRCh37] Chr15:15q26.1	likely pathogenic
NM_001039958.2(MESP2):c.640_643del (p.Val214fs)	deletion	Spondylocostal dysostosis 2, autosomal recessive [RCV000672221]\|not provided [RCV001861810]	Chr15:89776995..89776998 [GRCh38] Chr15:90320226..90320229 [GRCh37] Chr15:15q26.1	uncertain significance
Single allele	duplication	not provided [RCV000677926]	Chr15:31115047..102354857 [GRCh37] Chr15:15q13.2-26.3	pathogenic
NM_001039958.2(MESP2):c.343_344dup (p.Gly116fs)	duplication	Spondylocostal dysostosis 2, autosomal recessive [RCV000673120]	Chr15:89776699..89776700 [GRCh38] Chr15:90319930..90319931 [GRCh37] Chr15:15q26.1	likely pathogenic
NM_001039958.2(MESP2):c.718del (p.Val240fs)	deletion	Spondylocostal dysostosis 2, autosomal recessive [RCV000672622]\|not provided [RCV002532131]	Chr15:89777070 [GRCh38] Chr15:90320301 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.585_608del (p.180_181QG[9])	deletion	Spondylocostal dysostosis 2, autosomal recessive [RCV000673643]	Chr15:89776931..89776954 [GRCh38] Chr15:90320162..90320185 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.48G>A (p.Trp16Ter)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000667887]	Chr15:89776405 [GRCh38] Chr15:90319636 [GRCh37] Chr15:15q26.1	likely pathogenic
NM_001039958.2(MESP2):c.921C>G (p.Tyr307Ter)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000668347]\|not provided [RCV003233798]	Chr15:89777278 [GRCh38] Chr15:90320509 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.997A>T (p.Arg333Ter)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000672322]	Chr15:89778137 [GRCh38] Chr15:90321368 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.948_949del (p.Cys317fs)	deletion	Spondylocostal dysostosis 2, autosomal recessive [RCV000673581]	Chr15:89778088..89778089 [GRCh38] Chr15:90321319..90321320 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.547_556del (p.Gly183Argfs)	deletion	Spondylocostal dysostosis 2, autosomal recessive [RCV000673736]	Chr15:89776904..89776913 [GRCh38] Chr15:90320135..90320144 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.249_256dup (p.Ala86fs)	duplication	Spondylocostal dysostosis 2, autosomal recessive [RCV000673749]\|not provided [RCV002532153]	Chr15:89776601..89776602 [GRCh38] Chr15:90319832..90319833 [GRCh37] Chr15:15q26.1	pathogenic\|likely pathogenic
NM_001039958.2(MESP2):c.258_261del (p.Glu88fs)	deletion	Spondylocostal dysostosis 2, autosomal recessive [RCV000671183]\|not provided [RCV001220626]	Chr15:89776613..89776616 [GRCh38] Chr15:90319844..90319847 [GRCh37] Chr15:15q26.1	pathogenic\|likely pathogenic
NM_001039958.2(MESP2):c.1144G>T (p.Glu382Ter)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000665312]	Chr15:89778284 [GRCh38] Chr15:90321515 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.1155AGA[1] (p.Glu386del)	microsatellite	Spondylocostal dysostosis 2, autosomal recessive [RCV000665866]	Chr15:89778294..89778296 [GRCh38] Chr15:90321525..90321527 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.586C>T (p.Gln196Ter)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000673076]	Chr15:89776943 [GRCh38] Chr15:90320174 [GRCh37] Chr15:15q26.1	likely pathogenic
NM_001039958.2(MESP2):c.116C>A (p.Ser39Ter)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000671724]\|not provided [RCV001212144]	Chr15:89776473 [GRCh38] Chr15:90319704 [GRCh37] Chr15:15q26.1	pathogenic\|likely pathogenic
NM_001039958.2(MESP2):c.918_919del (p.Tyr307fs)	microsatellite	Spondylocostal dysostosis 2, autosomal recessive [RCV000667977]	Chr15:89777273..89777274 [GRCh38] Chr15:90320504..90320505 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.558_593del (p.180_181QG[7])	deletion	Spondylocostal dysostosis 2, autosomal recessive [RCV000668176]	Chr15:89776907..89776942 [GRCh38] Chr15:90320138..90320173 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.192_203dup (p.Glu65_Ala68dup)	duplication	Spondylocostal dysostosis 2, autosomal recessive [RCV000664594]\|not provided [RCV002532033]	Chr15:89776542..89776543 [GRCh38] Chr15:90319773..90319774 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.349C>T (p.Gln117Ter)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000666771]\|not provided [RCV002530694]	Chr15:89776706 [GRCh38] Chr15:90319937 [GRCh37] Chr15:15q26.1	pathogenic\|likely pathogenic
NM_001039958.2(MESP2):c.1017dup (p.Gly340fs)	duplication	Spondylocostal dysostosis 2, autosomal recessive [RCV000672475]	Chr15:89778152..89778153 [GRCh38] Chr15:90321383..90321384 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.801_806del (p.Asp268_Ala269del)	deletion	Spondylocostal dysostosis 2, autosomal recessive [RCV000666444]	Chr15:89777157..89777162 [GRCh38] Chr15:90320388..90320393 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.11C>A (p.Ser4Ter)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000670586]\|not provided [RCV001385866]	Chr15:89776368 [GRCh38] Chr15:90319599 [GRCh37] Chr15:15q26.1	pathogenic\|likely pathogenic
NM_001039958.2(MESP2):c.229G>T (p.Gly77Ter)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV000666082]\|not provided [RCV001380742]	Chr15:89776586 [GRCh38] Chr15:90319817 [GRCh37] Chr15:15q26.1	pathogenic\|likely pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	copy number gain	not provided [RCV000683703]	Chr15:71329220..102270758 [GRCh37] Chr15:15q23-26.3	pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3	copy number gain	not provided [RCV000683718]	Chr15:89743929..102429112 [GRCh37] Chr15:15q26.1-26.3	pathogenic
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	copy number gain	not provided [RCV000683710]	Chr15:77479244..102429112 [GRCh37] Chr15:15q24.3-26.3	pathogenic
NM_001039958.2(MESP2):c.36C>G (p.Gly12=)	single nucleotide variant	not provided [RCV001394542]	Chr15:89776393 [GRCh38] Chr15:90319624 [GRCh37] Chr15:15q26.1	likely benign
GRCh37/hg19 15q25.3-26.3(chr15:88385150-102461162)x3	copy number gain	not provided [RCV000738864]	Chr15:88385150..102461162 [GRCh37] Chr15:15q25.3-26.3	pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:90277151-102376761)x3	copy number gain	not provided [RCV000751387]	Chr15:90277151..102376761 [GRCh37] Chr15:15q26.1-26.3	pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3	copy number gain	not provided [RCV000751155]	Chr15:20016811..102493540 [GRCh37] Chr15:15q11.1-26.3	pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3	copy number gain	not provided [RCV000751156]	Chr15:20071673..102461162 [GRCh37] Chr15:15q11.1-26.3	pathogenic
NM_001039958.2(MESP2):c.237G>C (p.Ala79=)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001272523]\|not provided [RCV000979812]	Chr15:89776594 [GRCh38] Chr15:90319825 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.378C>G (p.Arg126=)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001273653]\|not provided [RCV000939964]	Chr15:89776735 [GRCh38] Chr15:90319966 [GRCh37] Chr15:15q26.1	likely benign\|uncertain significance
NM_001039958.2(MESP2):c.355C>T (p.Leu119=)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001272526]\|not provided [RCV000967380]	Chr15:89776712 [GRCh38] Chr15:90319943 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.793A>G (p.Thr265Ala)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001273655]\|not provided [RCV000942144]	Chr15:89777150 [GRCh38] Chr15:90320381 [GRCh37] Chr15:15q26.1	likely benign\|uncertain significance
NM_001039958.2(MESP2):c.498C>A (p.Pro166=)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001120321]\|not provided [RCV000906317]	Chr15:89776855 [GRCh38] Chr15:90320086 [GRCh37] Chr15:15q26.1	benign
NM_001039958.2(MESP2):c.859C>T (p.Pro287Ser)	single nucleotide variant	MESP2-related disorder [RCV003975767]\|Spondylocostal dysostosis 2, autosomal recessive [RCV001279091]\|not provided [RCV000904749]	Chr15:89777216 [GRCh38] Chr15:90320447 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.363G>A (p.Lys121=)	single nucleotide variant	not provided [RCV000928359]	Chr15:89776720 [GRCh38] Chr15:90319951 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.189C>G (p.Ala63=)	single nucleotide variant	MESP2-related disorder [RCV003960471]\|Spondylocostal dysostosis 2, autosomal recessive [RCV001120012]\|not provided [RCV000928378]	Chr15:89776546 [GRCh38] Chr15:90319777 [GRCh37] Chr15:15q26.1	benign\|likely benign\|uncertain significance
NM_001039958.2(MESP2):c.1017C>T (p.Pro339=)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001273656]\|not provided [RCV000906620]	Chr15:89778157 [GRCh38] Chr15:90321388 [GRCh37] Chr15:15q26.1	likely benign\|uncertain significance
NM_001039958.2(MESP2):c.517G>A (p.Ala173Thr)	single nucleotide variant	Inborn genetic diseases [RCV003363074]\|Spondylocostal dysostosis 2, autosomal recessive [RCV001120322]\|not provided [RCV001048620]	Chr15:89776874 [GRCh38] Chr15:90320105 [GRCh37] Chr15:15q26.1	likely benign\|uncertain significance
NM_001039958.2(MESP2):c.531_550del (p.Glu178fs)	deletion	Spondylocostal dysostosis 2, autosomal recessive [RCV000779178]	Chr15:89776885..89776904 [GRCh38] Chr15:90320116..90320135 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.507C>T (p.Gly169=)	single nucleotide variant	MESP2-related disorder [RCV003962941]\|not provided [RCV000978816]	Chr15:89776864 [GRCh38] Chr15:90320095 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.693C>T (p.Ala231=)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001836033]\|not provided [RCV000942225]	Chr15:89777050 [GRCh38] Chr15:90320281 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.357G>C (p.Leu119=)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001273652]\|not provided [RCV000918266]	Chr15:89776714 [GRCh38] Chr15:90319945 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.350A>G (p.Gln117Arg)	single nucleotide variant	not provided [RCV000883101]	Chr15:89776707 [GRCh38] Chr15:90319938 [GRCh37] Chr15:15q26.1	likely benign
GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)	copy number loss	not provided [RCV000767759]	Chr15:83883823..92165844 [GRCh37] Chr15:15q25.2-26.1	pathogenic
NM_001039958.2(MESP2):c.471dup (p.Ser158fs)	duplication	not provided [RCV000795647]	Chr15:89776824..89776825 [GRCh38] Chr15:90320055..90320056 [GRCh37] Chr15:15q26.1	pathogenic
GRCh37/hg19 15q26.1(chr15:90308996-90502529)x1	copy number loss	not provided [RCV000849248]	Chr15:90308996..90502529 [GRCh37] Chr15:15q26.1	uncertain significance
GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3	copy number gain	not provided [RCV000846885]	Chr15:90288175..102429112 [GRCh37] Chr15:15q26.1-26.3	pathogenic
NC_000015.10:g.(?_89776348)_(89778344_?)del	deletion	not provided [RCV000795448]	Chr15:89776348..89778344 [GRCh38] Chr15:90319579..90321575 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.1063G>A (p.Asp355Asn)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001118584]\|not provided [RCV001856557]	Chr15:89778203 [GRCh38] Chr15:90321434 [GRCh37] Chr15:15q26.1	uncertain significance
GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1	copy number loss	not provided [RCV001006718]	Chr15:87189245..102429112 [GRCh37] Chr15:15q25.3-26.3	pathogenic
NM_001039958.2(MESP2):c.*10G>A	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001120120]	Chr15:89778344 [GRCh38] Chr15:90321575 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.218G>T (p.Arg73Leu)	single nucleotide variant	Inborn genetic diseases [RCV002556578]\|Spondylocostal dysostosis 2, autosomal recessive [RCV001120320]\|not provided [RCV002556577]	Chr15:89776575 [GRCh38] Chr15:90319806 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.*50G>A	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001120121]	Chr15:89778384 [GRCh38] Chr15:90321615 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.*318G>A	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001120407]	Chr15:89778652 [GRCh38] Chr15:90321883 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.281dup (p.Met94fs)	duplication	not provided [RCV001223968]	Chr15:89776637..89776638 [GRCh38] Chr15:90319868..90319869 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.1017C>G (p.Pro339=)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001118583]\|not provided [RCV001448042]	Chr15:89778157 [GRCh38] Chr15:90321388 [GRCh37] Chr15:15q26.1	likely benign\|uncertain significance
NM_001039958.2(MESP2):c.925-257A>G	single nucleotide variant	not provided [RCV001534921]	Chr15:89777808 [GRCh38] Chr15:90321039 [GRCh37] Chr15:15q26.1	benign
NC_000015.10:g.89776088G>A	single nucleotide variant	not provided [RCV001694504]	Chr15:89776088 [GRCh38] Chr15:90319319 [GRCh37] Chr15:15q26.1	benign
NM_001039958.2(MESP2):c.237G>T (p.Ala79=)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001272524]\|not provided [RCV000977228]	Chr15:89776594 [GRCh38] Chr15:90319825 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.168T>G (p.Pro56=)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001120011]\|not provided [RCV000886881]	Chr15:89776525 [GRCh38] Chr15:90319756 [GRCh37] Chr15:15q26.1	likely benign\|uncertain significance
NM_001039958.2(MESP2):c.486C>T (p.Cys162=)	single nucleotide variant	not provided [RCV000975844]	Chr15:89776843 [GRCh38] Chr15:90320074 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.687C>A (p.Ala229=)	single nucleotide variant	not provided [RCV000932815]	Chr15:89777044 [GRCh38] Chr15:90320275 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.67G>A (p.Gly23Ser)	single nucleotide variant	MESP2-related disorder [RCV003910836]\|Spondylocostal dysostosis 2, autosomal recessive [RCV001825824]\|not provided [RCV000906425]	Chr15:89776424 [GRCh38] Chr15:90319655 [GRCh37] Chr15:15q26.1	benign\|likely benign
NM_001039958.2(MESP2):c.583G>T (p.Gly195Ter)	single nucleotide variant	not provided [RCV001169940]	Chr15:89776940 [GRCh38] Chr15:90320171 [GRCh37] Chr15:15q26.1	likely pathogenic
NM_001039958.2(MESP2):c.832_838delinsACCCCTTG (p.Cys278fs)	indel	not specified [RCV002470001]	Chr15:89777189..89777195 [GRCh38] Chr15:90320420..90320426 [GRCh37] Chr15:15q26.1	uncertain significance
NC_000015.10:g.89776082T>C	single nucleotide variant	not provided [RCV001608293]	Chr15:89776082 [GRCh38] Chr15:90319313 [GRCh37] Chr15:15q26.1	benign
NM_001039958.2(MESP2):c.682G>A (p.Gly228Arg)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001118582]\|not provided [RCV002556520]	Chr15:89777039 [GRCh38] Chr15:90320270 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.*118G>A	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001120122]	Chr15:89778452 [GRCh38] Chr15:90321683 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.*229T>C	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001120406]	Chr15:89778563 [GRCh38] Chr15:90321794 [GRCh37] Chr15:15q26.1	uncertain significance
GRCh37/hg19 15q26.1(chr15:90111672-90671886)x3	copy number gain	not provided [RCV001006720]	Chr15:90111672..90671886 [GRCh37] Chr15:15q26.1	uncertain significance
NC_000015.9:g.(?_32964879)_(91358519_?)dup	duplication	Bloom syndrome [RCV001343104]\|Familial colorectal cancer [RCV001325176]	Chr15:32964879..91358519 [GRCh37] Chr15:15q13.3-26.1	uncertain significance
NM_001039958.2(MESP2):c.245A>G (p.Gln82Arg)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001278305]	Chr15:89776602 [GRCh38] Chr15:90319833 [GRCh37] Chr15:15q26.1	uncertain significance
GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1	copy number loss	See cases [RCV001263026]	Chr15:86962053..102531392 [GRCh37] Chr15:15q25.3-26.3	pathogenic
NM_001039958.2(MESP2):c.787C>G (p.Gln263Glu)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001330168]\|not provided [RCV002546375]	Chr15:89777144 [GRCh38] Chr15:90320375 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.279C>A (p.Arg93=)	single nucleotide variant	not provided [RCV001412404]	Chr15:89776636 [GRCh38] Chr15:90319867 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.408G>T (p.Ser136=)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001831457]\|not provided [RCV001413070]	Chr15:89776765 [GRCh38] Chr15:90319996 [GRCh37] Chr15:15q26.1	benign\|likely benign
NM_001039958.2(MESP2):c.648C>G (p.Ala216=)	single nucleotide variant	not provided [RCV001414452]	Chr15:89777005 [GRCh38] Chr15:90320236 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.642C>A (p.Val214=)	single nucleotide variant	not provided [RCV001396804]	Chr15:89776999 [GRCh38] Chr15:90320230 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.486C>A (p.Cys162Ter)	single nucleotide variant	not provided [RCV001382950]	Chr15:89776843 [GRCh38] Chr15:90320074 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.278G>C (p.Arg93Pro)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001278308]\|not provided [RCV001880256]	Chr15:89776635 [GRCh38] Chr15:90319866 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.637G>A (p.Ala213Thr)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001826112]\|not provided [RCV001373187]	Chr15:89776994 [GRCh38] Chr15:90320225 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.496C>T (p.Pro166Ser)	single nucleotide variant	not provided [RCV001327206]	Chr15:89776853 [GRCh38] Chr15:90320084 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.248G>C (p.Arg83Pro)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001278306]	Chr15:89776605 [GRCh38] Chr15:90319836 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.255C>G (p.Ser85Arg)	single nucleotide variant	Inborn genetic diseases [RCV004035469]\|Spondylocostal dysostosis 2, autosomal recessive [RCV001278307]\|not specified [RCV004587103]	Chr15:89776612 [GRCh38] Chr15:90319843 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.196G>A (p.Ala66Thr)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001278303]	Chr15:89776553 [GRCh38] Chr15:90319784 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.461G>C (p.Gly154Ala)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001279089]	Chr15:89776818 [GRCh38] Chr15:90320049 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.320T>C (p.Phe107Ser)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001279088]	Chr15:89776677 [GRCh38] Chr15:90319908 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.753C>T (p.Tyr251=)	single nucleotide variant	not provided [RCV001395477]	Chr15:89777110 [GRCh38] Chr15:90320341 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.6C>T (p.Ala2=)	single nucleotide variant	not provided [RCV001395232]	Chr15:89776363 [GRCh38] Chr15:90319594 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.228C>G (p.Thr76=)	single nucleotide variant	not provided [RCV001421822]	Chr15:89776585 [GRCh38] Chr15:90319816 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.628C>T (p.Leu210=)	single nucleotide variant	not provided [RCV001506912]	Chr15:89776985 [GRCh38] Chr15:90320216 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.138C>T (p.Asp46=)	single nucleotide variant	not provided [RCV001478963]	Chr15:89776495 [GRCh38] Chr15:90319726 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.1074G>C (p.Pro358=)	single nucleotide variant	not provided [RCV001440965]	Chr15:89778214 [GRCh38] Chr15:90321445 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.1158A>G (p.Glu386=)	single nucleotide variant	not provided [RCV001424888]	Chr15:89778298 [GRCh38] Chr15:90321529 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.699C>G (p.Pro233=)	single nucleotide variant	not provided [RCV001457626]	Chr15:89777056 [GRCh38] Chr15:90320287 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.966T>G (p.Ala322=)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001826275]\|not provided [RCV001451911]	Chr15:89778106 [GRCh38] Chr15:90321337 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.1177C>T (p.Leu393=)	single nucleotide variant	not provided [RCV001402811]	Chr15:89778317 [GRCh38] Chr15:90321548 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.579G>A (p.Gly193=)	single nucleotide variant	not provided [RCV001477001]	Chr15:89776936 [GRCh38] Chr15:90320167 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.1086C>T (p.Phe362=)	single nucleotide variant	not provided [RCV001476986]	Chr15:89778226 [GRCh38] Chr15:90321457 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.468G>A (p.Ala156=)	single nucleotide variant	not provided [RCV001497248]	Chr15:89776825 [GRCh38] Chr15:90320056 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.1047G>A (p.Val349=)	single nucleotide variant	not provided [RCV001462342]	Chr15:89778187 [GRCh38] Chr15:90321418 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.801C>T (p.Ser267=)	single nucleotide variant	not provided [RCV001503404]	Chr15:89777158 [GRCh38] Chr15:90320389 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.1122C>A (p.Gly374=)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001832620]\|not provided [RCV001475753]	Chr15:89778262 [GRCh38] Chr15:90321493 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.288G>A (p.Thr96=)	single nucleotide variant	not provided [RCV001403603]	Chr15:89776645 [GRCh38] Chr15:90319876 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.510C>G (p.Pro170=)	single nucleotide variant	not provided [RCV001429170]	Chr15:89776867 [GRCh38] Chr15:90320098 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.339G>A (p.Ala113=)	single nucleotide variant	not provided [RCV001442785]	Chr15:89776696 [GRCh38] Chr15:90319927 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.195G>A (p.Glu65=)	single nucleotide variant	not provided [RCV001403916]	Chr15:89776552 [GRCh38] Chr15:90319783 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.228C>T (p.Thr76=)	single nucleotide variant	not provided [RCV001478442]	Chr15:89776585 [GRCh38] Chr15:90319816 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.636C>T (p.Ser212=)	single nucleotide variant	not provided [RCV001426189]	Chr15:89776993 [GRCh38] Chr15:90320224 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.327T>G (p.Pro109=)	single nucleotide variant	not provided [RCV001419953]	Chr15:89776684 [GRCh38] Chr15:90319915 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.345C>G (p.Ala115=)	single nucleotide variant	MESP2-related disorder [RCV004757438]\|not provided [RCV001439682]	Chr15:89776702 [GRCh38] Chr15:90319933 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.333C>T (p.Ser111=)	single nucleotide variant	not provided [RCV001432934]	Chr15:89776690 [GRCh38] Chr15:90319921 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.411C>T (p.Ala137=)	single nucleotide variant	not provided [RCV001425752]	Chr15:89776768 [GRCh38] Chr15:90319999 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.225C>T (p.Arg75=)	single nucleotide variant	not provided [RCV001438902]	Chr15:89776582 [GRCh38] Chr15:90319813 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.342G>C (p.Pro114=)	single nucleotide variant	not provided [RCV001425009]	Chr15:89776699 [GRCh38] Chr15:90319930 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.957G>T (p.Ser319=)	single nucleotide variant	not provided [RCV001446880]	Chr15:89778097 [GRCh38] Chr15:90321328 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.294C>T (p.Ala98=)	single nucleotide variant	not provided [RCV001418999]	Chr15:89776651 [GRCh38] Chr15:90319882 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.414G>T (p.Val138=)	single nucleotide variant	not provided [RCV001418544]	Chr15:89776771 [GRCh38] Chr15:90320002 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.570A>G (p.Gln190=)	single nucleotide variant	not provided [RCV001419189]	Chr15:89776927 [GRCh38] Chr15:90320158 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.111C>T (p.Ser37=)	single nucleotide variant	not provided [RCV001428937]	Chr15:89776468 [GRCh38] Chr15:90319699 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.978G>A (p.Leu326=)	single nucleotide variant	not provided [RCV001445167]	Chr15:89778118 [GRCh38] Chr15:90321349 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.84G>A (p.Trp28Ter)	single nucleotide variant	not provided [RCV001381593]	Chr15:89776441 [GRCh38] Chr15:90319672 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.474C>A (p.Ser158=)	single nucleotide variant	not provided [RCV001440539]	Chr15:89776831 [GRCh38] Chr15:90320062 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.72G>A (p.Trp24Ter)	single nucleotide variant	not provided [RCV001386780]	Chr15:89776429 [GRCh38] Chr15:90319660 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.150A>G (p.Gly50=)	single nucleotide variant	not provided [RCV001428414]	Chr15:89776507 [GRCh38] Chr15:90319738 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.303G>A (p.Leu101=)	single nucleotide variant	not provided [RCV001445411]	Chr15:89776660 [GRCh38] Chr15:90319891 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.204G>A (p.Ala68=)	single nucleotide variant	not provided [RCV001448237]	Chr15:89776561 [GRCh38] Chr15:90319792 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.180_193dup (p.Glu65fs)	duplication	not provided [RCV001382004]	Chr15:89776532..89776533 [GRCh38] Chr15:90319763..90319764 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.645C>T (p.Leu215=)	single nucleotide variant	not provided [RCV001445836]	Chr15:89777002 [GRCh38] Chr15:90320233 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.411C>G (p.Ala137=)	single nucleotide variant	not provided [RCV001464635]	Chr15:89776768 [GRCh38] Chr15:90319999 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.1074G>A (p.Pro358=)	single nucleotide variant	not provided [RCV001502116]	Chr15:89778214 [GRCh38] Chr15:90321445 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.843G>A (p.Thr281=)	single nucleotide variant	not provided [RCV001495328]	Chr15:89777200 [GRCh38] Chr15:90320431 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.318C>T (p.Arg106=)	single nucleotide variant	not provided [RCV001473275]	Chr15:89776675 [GRCh38] Chr15:90319906 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.228C>A (p.Thr76=)	single nucleotide variant	not provided [RCV001458044]	Chr15:89776585 [GRCh38] Chr15:90319816 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.690A>G (p.Gln230=)	single nucleotide variant	not provided [RCV001479725]	Chr15:89777047 [GRCh38] Chr15:90320278 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.234A>T (p.Pro78=)	single nucleotide variant	not provided [RCV001486929]	Chr15:89776591 [GRCh38] Chr15:90319822 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.669G>A (p.Pro223=)	single nucleotide variant	not provided [RCV001470336]	Chr15:89777026 [GRCh38] Chr15:90320257 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.69C>T (p.Gly23=)	single nucleotide variant	not provided [RCV001487829]	Chr15:89776426 [GRCh38] Chr15:90319657 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.681C>T (p.Pro227=)	single nucleotide variant	not provided [RCV001477574]	Chr15:89777038 [GRCh38] Chr15:90320269 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.222G>C (p.Ala74=)	single nucleotide variant	not provided [RCV001478014]	Chr15:89776579 [GRCh38] Chr15:90319810 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.925-196G>T	single nucleotide variant	not provided [RCV001714995]	Chr15:89777869 [GRCh38] Chr15:90321100 [GRCh37] Chr15:15q26.1	benign
NM_001039958.2(MESP2):c.378C>T (p.Arg126=)	single nucleotide variant	not provided [RCV001457096]	Chr15:89776735 [GRCh38] Chr15:90319966 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.591G>A (p.Gly197=)	single nucleotide variant	MESP2-related disorder [RCV003908633]\|not provided [RCV001431087]	Chr15:89776948 [GRCh38] Chr15:90320179 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.669G>C (p.Pro223=)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001826311]\|not provided [RCV001479753]	Chr15:89777026 [GRCh38] Chr15:90320257 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.342G>T (p.Pro114=)	single nucleotide variant	not provided [RCV001399471]	Chr15:89776699 [GRCh38] Chr15:90319930 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.405A>G (p.Leu135=)	single nucleotide variant	not provided [RCV001469539]	Chr15:89776762 [GRCh38] Chr15:90319993 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.207G>T (p.Thr69=)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001832655]\|not provided [RCV001500111]	Chr15:89776564 [GRCh38] Chr15:90319795 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.696A>G (p.Ala232=)	single nucleotide variant	not provided [RCV001464234]	Chr15:89777053 [GRCh38] Chr15:90320284 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.270G>A (p.Glu90=)	single nucleotide variant	not provided [RCV001481707]	Chr15:89776627 [GRCh38] Chr15:90319858 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.897A>C (p.Ala299=)	single nucleotide variant	not provided [RCV001506820]	Chr15:89777254 [GRCh38] Chr15:90320485 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.301C>T (p.Leu101=)	single nucleotide variant	not provided [RCV001471185]	Chr15:89776658 [GRCh38] Chr15:90319889 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.975C>A (p.Leu325=)	single nucleotide variant	not provided [RCV001488543]	Chr15:89778115 [GRCh38] Chr15:90321346 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.18T>A (p.Pro6=)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV001832636]\|not provided [RCV001488545]	Chr15:89776375 [GRCh38] Chr15:90319606 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.807G>A (p.Ala269=)	single nucleotide variant	not provided [RCV001458731]	Chr15:89777164 [GRCh38] Chr15:90320395 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.492G>C (p.Leu164=)	single nucleotide variant	not provided [RCV001465055]	Chr15:89776849 [GRCh38] Chr15:90320080 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.957G>C (p.Ser319=)	single nucleotide variant	not provided [RCV001482439]	Chr15:89778097 [GRCh38] Chr15:90321328 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.264G>A (p.Glu88=)	single nucleotide variant	not provided [RCV001457908]	Chr15:89776621 [GRCh38] Chr15:90319852 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.201C>G (p.Ala67=)	single nucleotide variant	not provided [RCV001440558]	Chr15:89776558 [GRCh38] Chr15:90319789 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.1089G>A (p.Gln363=)	single nucleotide variant	not provided [RCV001443178]	Chr15:89778229 [GRCh38] Chr15:90321460 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.777G>A (p.Pro259=)	single nucleotide variant	not provided [RCV001499369]	Chr15:89777134 [GRCh38] Chr15:90320365 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.925-9C>A	single nucleotide variant	not provided [RCV001467856]	Chr15:89778056 [GRCh38] Chr15:90321287 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.1035C>T (p.His345=)	single nucleotide variant	not provided [RCV001467898]	Chr15:89778175 [GRCh38] Chr15:90321406 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.822A>C (p.Pro274=)	single nucleotide variant	not provided [RCV001437084]	Chr15:89777179 [GRCh38] Chr15:90320410 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.747C>G (p.Pro249=)	single nucleotide variant	not provided [RCV001432969]	Chr15:89777104 [GRCh38] Chr15:90320335 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.186A>G (p.Arg62=)	single nucleotide variant	not provided [RCV001479388]	Chr15:89776543 [GRCh38] Chr15:90319774 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.981C>A (p.Pro327=)	single nucleotide variant	not provided [RCV001472220]	Chr15:89778121 [GRCh38] Chr15:90321352 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.135C>A (p.Cys45Ter)	single nucleotide variant	not provided [RCV003105237]	Chr15:89776492 [GRCh38] Chr15:90319723 [GRCh37] Chr15:15q26.1	pathogenic
GRCh37/hg19 15q25.3-26.2(chr15:88465861-94411846)x1	copy number loss	not provided [RCV001795547]	Chr15:88465861..94411846 [GRCh37] Chr15:15q25.3-26.2	pathogenic
NM_001039958.2(MESP2):c.397G>C (p.Gly133Arg)	single nucleotide variant	Inborn genetic diseases [RCV004641721]\|not provided [RCV001930114]	Chr15:89776754 [GRCh38] Chr15:90319985 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.1190A>G (p.Tyr397Cys)	single nucleotide variant	not provided [RCV001914954]	Chr15:89778330 [GRCh38] Chr15:90321561 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.20_33dup (p.Gly12fs)	duplication	not provided [RCV002002501]	Chr15:89776368..89776369 [GRCh38] Chr15:90319599..90319600 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.980C>T (p.Pro327Leu)	single nucleotide variant	not provided [RCV001909504]	Chr15:89778120 [GRCh38] Chr15:90321351 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.20_33del (p.Pro7fs)	deletion	not provided [RCV002007530]	Chr15:89776369..89776382 [GRCh38] Chr15:90319600..90319613 [GRCh37] Chr15:15q26.1	pathogenic
GRCh37/hg19 15q26.1(chr15:89520451-93926491)x1	copy number loss	not provided [RCV001827973]	Chr15:89520451..93926491 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.1153C>A (p.Gln385Lys)	single nucleotide variant	Inborn genetic diseases [RCV003167186]\|not provided [RCV001947846]	Chr15:89778293 [GRCh38] Chr15:90321524 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.132C>G (p.Pro44=)	single nucleotide variant	not provided [RCV001872502]	Chr15:89776489 [GRCh38] Chr15:90319720 [GRCh37] Chr15:15q26.1	likely benign\|uncertain significance
NM_001039958.2(MESP2):c.769T>C (p.Ser257Pro)	single nucleotide variant	not provided [RCV001942642]	Chr15:89777126 [GRCh38] Chr15:90320357 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.266G>A (p.Arg89Gln)	single nucleotide variant	not provided [RCV001923885]	Chr15:89776623 [GRCh38] Chr15:90319854 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.448C>T (p.Arg150Cys)	single nucleotide variant	not provided [RCV001982511]	Chr15:89776805 [GRCh38] Chr15:90320036 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.728C>T (p.Thr243Met)	single nucleotide variant	not provided [RCV001903581]	Chr15:89777085 [GRCh38] Chr15:90320316 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.47G>A (p.Trp16Ter)	single nucleotide variant	not provided [RCV001941341]	Chr15:89776404 [GRCh38] Chr15:90319635 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.782C>T (p.Ser261Leu)	single nucleotide variant	not provided [RCV001961879]	Chr15:89777139 [GRCh38] Chr15:90320370 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.162_175dup (p.Cys59fs)	duplication	not provided [RCV001866584]	Chr15:89776518..89776519 [GRCh38] Chr15:90319749..90319750 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.259A>G (p.Ser87Gly)	single nucleotide variant	not provided [RCV001898741]	Chr15:89776616 [GRCh38] Chr15:90319847 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.506G>A (p.Gly169Asp)	single nucleotide variant	not provided [RCV002001063]	Chr15:89776863 [GRCh38] Chr15:90320094 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.517G>T (p.Ala173Ser)	single nucleotide variant	not provided [RCV002014151]	Chr15:89776874 [GRCh38] Chr15:90320105 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.1118C>A (p.Ser373Ter)	single nucleotide variant	not provided [RCV002028118]	Chr15:89778258 [GRCh38] Chr15:90321489 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.1174C>T (p.Arg392Cys)	single nucleotide variant	Inborn genetic diseases [RCV004641803]\|not provided [RCV001957420]	Chr15:89778314 [GRCh38] Chr15:90321545 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.662G>A (p.Gly221Glu)	single nucleotide variant	not provided [RCV002033897]	Chr15:89777019 [GRCh38] Chr15:90320250 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.295C>A (p.Arg99Ser)	single nucleotide variant	not provided [RCV001923732]	Chr15:89776652 [GRCh38] Chr15:90319883 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.58C>T (p.Gln20Ter)	single nucleotide variant	not provided [RCV001958584]	Chr15:89776415 [GRCh38] Chr15:90319646 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.907C>G (p.Leu303Val)	single nucleotide variant	not provided [RCV001924172]	Chr15:89777264 [GRCh38] Chr15:90320495 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.383C>T (p.Ala128Val)	single nucleotide variant	not provided [RCV001924384]	Chr15:89776740 [GRCh38] Chr15:90319971 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.199G>T (p.Ala67Ser)	single nucleotide variant	not provided [RCV001925749]	Chr15:89776556 [GRCh38] Chr15:90319787 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.324_327dup (p.Pro110fs)	duplication	not provided [RCV001951195]	Chr15:89776678..89776679 [GRCh38] Chr15:90319909..90319910 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.20C>A (p.Pro7Gln)	single nucleotide variant	not provided [RCV001936421]	Chr15:89776377 [GRCh38] Chr15:90319608 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.465C>T (p.Asp155=)	single nucleotide variant	not provided [RCV002205837]	Chr15:89776822 [GRCh38] Chr15:90320053 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.675C>G (p.Ala225=)	single nucleotide variant	not provided [RCV002084734]	Chr15:89777032 [GRCh38] Chr15:90320263 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.390C>T (p.Arg130=)	single nucleotide variant	not provided [RCV002090754]	Chr15:89776747 [GRCh38] Chr15:90319978 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.576G>A (p.Gln192=)	single nucleotide variant	not provided [RCV002167427]	Chr15:89776933 [GRCh38] Chr15:90320164 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.717G>T (p.Gly239=)	single nucleotide variant	not provided [RCV002104675]	Chr15:89777074 [GRCh38] Chr15:90320305 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.648C>T (p.Ala216=)	single nucleotide variant	not provided [RCV002106708]	Chr15:89777005 [GRCh38] Chr15:90320236 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.75C>T (p.Ala25=)	single nucleotide variant	not provided [RCV002110052]	Chr15:89776432 [GRCh38] Chr15:90319663 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.918G>A (p.Val306=)	single nucleotide variant	not provided [RCV002169321]	Chr15:89777275 [GRCh38] Chr15:90320506 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.96C>T (p.Ser32=)	single nucleotide variant	not provided [RCV002073784]	Chr15:89776453 [GRCh38] Chr15:90319684 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.450C>T (p.Arg150=)	single nucleotide variant	not provided [RCV002209375]	Chr15:89776807 [GRCh38] Chr15:90320038 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.297C>G (p.Arg99=)	single nucleotide variant	not provided [RCV002207076]	Chr15:89776654 [GRCh38] Chr15:90319885 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.396C>T (p.Ile132=)	single nucleotide variant	not provided [RCV002096709]	Chr15:89776753 [GRCh38] Chr15:90319984 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.609G>A (p.Gly203=)	single nucleotide variant	not provided [RCV002077887]	Chr15:89776966 [GRCh38] Chr15:90320197 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.1161T>C (p.Asp387=)	single nucleotide variant	not provided [RCV002076645]	Chr15:89778301 [GRCh38] Chr15:90321532 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.666C>A (p.Ser222=)	single nucleotide variant	not provided [RCV002171233]	Chr15:89777023 [GRCh38] Chr15:90320254 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.975C>T (p.Leu325=)	single nucleotide variant	not provided [RCV002114554]	Chr15:89778115 [GRCh38] Chr15:90321346 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.123T>C (p.Gly41=)	single nucleotide variant	not provided [RCV002195511]	Chr15:89776480 [GRCh38] Chr15:90319711 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.216A>G (p.Arg72=)	single nucleotide variant	not provided [RCV002194267]	Chr15:89776573 [GRCh38] Chr15:90319804 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.945G>A (p.Glu315=)	single nucleotide variant	not provided [RCV002174085]	Chr15:89778085 [GRCh38] Chr15:90321316 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.810T>C (p.Ser270=)	single nucleotide variant	not provided [RCV002174901]	Chr15:89777167 [GRCh38] Chr15:90320398 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.297C>A (p.Arg99=)	single nucleotide variant	not provided [RCV002085851]	Chr15:89776654 [GRCh38] Chr15:90319885 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.639C>T (p.Ala213=)	single nucleotide variant	not provided [RCV002133582]	Chr15:89776996 [GRCh38] Chr15:90320227 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.531G>T (p.Ala177=)	single nucleotide variant	not provided [RCV002168446]	Chr15:89776888 [GRCh38] Chr15:90320119 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.345C>T (p.Ala115=)	single nucleotide variant	not provided [RCV002095956]	Chr15:89776702 [GRCh38] Chr15:90319933 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.1053C>T (p.Pro351=)	single nucleotide variant	not provided [RCV002111163]	Chr15:89778193 [GRCh38] Chr15:90321424 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.183C>G (p.Ser61=)	single nucleotide variant	not provided [RCV002090111]	Chr15:89776540 [GRCh38] Chr15:90319771 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.162A>G (p.Pro54=)	single nucleotide variant	not provided [RCV002185417]	Chr15:89776519 [GRCh38] Chr15:90319750 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.159G>A (p.Gln53=)	single nucleotide variant	not provided [RCV002100102]	Chr15:89776516 [GRCh38] Chr15:90319747 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.678C>T (p.Cys226=)	single nucleotide variant	not provided [RCV002141917]	Chr15:89777035 [GRCh38] Chr15:90320266 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.777G>C (p.Pro259=)	single nucleotide variant	not provided [RCV002099779]	Chr15:89777134 [GRCh38] Chr15:90320365 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.387C>A (p.Ile129=)	single nucleotide variant	not provided [RCV002216721]	Chr15:89776744 [GRCh38] Chr15:90319975 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.387C>T (p.Ile129=)	single nucleotide variant	not provided [RCV002158242]	Chr15:89776744 [GRCh38] Chr15:90319975 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.1002G>A (p.Leu334=)	single nucleotide variant	not provided [RCV002157111]	Chr15:89778142 [GRCh38] Chr15:90321373 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.240C>T (p.Gly80=)	single nucleotide variant	not provided [RCV002142502]	Chr15:89776597 [GRCh38] Chr15:90319828 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.401_411dup (p.Val138fs)	duplication	not provided [RCV003669253]\|not specified [RCV002223060]	Chr15:89776750..89776751 [GRCh38] Chr15:90319981..90319982 [GRCh37] Chr15:15q26.1	pathogenic\|uncertain significance
NM_001039958.2(MESP2):c.222G>A (p.Ala74=)	single nucleotide variant	not provided [RCV002143973]	Chr15:89776579 [GRCh38] Chr15:90319810 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.267G>A (p.Arg89=)	single nucleotide variant	not provided [RCV002144373]	Chr15:89776624 [GRCh38] Chr15:90319855 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.783G>T (p.Ser261=)	single nucleotide variant	not provided [RCV002219132]	Chr15:89777140 [GRCh38] Chr15:90320371 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.858G>A (p.Glu286=)	single nucleotide variant	not provided [RCV002200275]	Chr15:89777215 [GRCh38] Chr15:90320446 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.768G>A (p.Gln256=)	single nucleotide variant	not provided [RCV002084370]	Chr15:89777125 [GRCh38] Chr15:90320356 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.384C>T (p.Ala128=)	single nucleotide variant	not provided [RCV002120809]	Chr15:89776741 [GRCh38] Chr15:90319972 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.925-10T>C	single nucleotide variant	not provided [RCV002178552]	Chr15:89778055 [GRCh38] Chr15:90321286 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.147C>T (p.Arg49=)	single nucleotide variant	not provided [RCV002120933]	Chr15:89776504 [GRCh38] Chr15:90319735 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.666C>T (p.Ser222=)	single nucleotide variant	not provided [RCV002139117]	Chr15:89777023 [GRCh38] Chr15:90320254 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.702G>A (p.Glu234=)	single nucleotide variant	not provided [RCV002202191]	Chr15:89777059 [GRCh38] Chr15:90320290 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.891C>G (p.Ala297=)	single nucleotide variant	not provided [RCV002177848]	Chr15:89777248 [GRCh38] Chr15:90320479 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.450C>A (p.Arg150=)	single nucleotide variant	not provided [RCV002162162]	Chr15:89776807 [GRCh38] Chr15:90320038 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.876G>T (p.Val292=)	single nucleotide variant	not provided [RCV002220857]	Chr15:89777233 [GRCh38] Chr15:90320464 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.834T>C (p.Cys278=)	single nucleotide variant	not provided [RCV002219406]	Chr15:89777191 [GRCh38] Chr15:90320422 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.153C>G (p.Leu51=)	single nucleotide variant	not provided [RCV002217287]	Chr15:89776510 [GRCh38] Chr15:90319741 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.981C>G (p.Pro327=)	single nucleotide variant	not provided [RCV002157028]	Chr15:89778121 [GRCh38] Chr15:90321352 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.201C>T (p.Ala67=)	single nucleotide variant	not provided [RCV002098900]	Chr15:89776558 [GRCh38] Chr15:90319789 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.234A>G (p.Pro78=)	single nucleotide variant	not provided [RCV002099450]	Chr15:89776591 [GRCh38] Chr15:90319822 [GRCh37] Chr15:15q26.1	likely benign
NC_000015.9:g.(?_89379429)_(91565479_?)dup	duplication	D-2-hydroxyglutaric aciduria 2 [RCV003111027]\|not provided [RCV003111026]	Chr15:89379429..91565479 [GRCh37] Chr15:15q26.1	uncertain significance\|no classifications from unflagged records
NM_001039958.2(MESP2):c.1126C>G (p.Arg376Gly)	single nucleotide variant	not provided [RCV003116945]	Chr15:89778266 [GRCh38] Chr15:90321497 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.633C>T (p.Val211=)	single nucleotide variant	not provided [RCV003118580]	Chr15:89776990 [GRCh38] Chr15:90320221 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.83G>A (p.Trp28Ter)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV003236476]	Chr15:89776440 [GRCh38] Chr15:90319671 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.1078G>A (p.Ala360Thr)	single nucleotide variant	not provided [RCV002904135]	Chr15:89778218 [GRCh38] Chr15:90321449 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.758C>T (p.Pro253Leu)	single nucleotide variant	Inborn genetic diseases [RCV004065195]\|not provided [RCV002993841]	Chr15:89777115 [GRCh38] Chr15:90320346 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.1020G>T (p.Gly340=)	single nucleotide variant	not provided [RCV002862794]	Chr15:89778160 [GRCh38] Chr15:90321391 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.24G>A (p.Gln8=)	single nucleotide variant	not provided [RCV002903889]	Chr15:89776381 [GRCh38] Chr15:90319612 [GRCh37] Chr15:15q26.1	likely benign
GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	copy number gain	not provided [RCV002475797]	Chr15:77512817..102035027 [GRCh37] Chr15:15q24.3-26.3	pathogenic
NM_001039958.2(MESP2):c.244C>T (p.Gln82Ter)	single nucleotide variant	not provided [RCV002843698]	Chr15:89776601 [GRCh38] Chr15:90319832 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.315C>T (p.Arg105=)	single nucleotide variant	not provided [RCV002615690]	Chr15:89776672 [GRCh38] Chr15:90319903 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.117G>A (p.Ser39=)	single nucleotide variant	not provided [RCV002842556]	Chr15:89776474 [GRCh38] Chr15:90319705 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.671C>A (p.Ser224Tyr)	single nucleotide variant	not provided [RCV002971025]	Chr15:89777028 [GRCh38] Chr15:90320259 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.117G>T (p.Ser39=)	single nucleotide variant	not provided [RCV002686072]	Chr15:89776474 [GRCh38] Chr15:90319705 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.330C>T (p.Pro110=)	single nucleotide variant	not provided [RCV002994862]	Chr15:89776687 [GRCh38] Chr15:90319918 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.630G>A (p.Leu210=)	single nucleotide variant	not provided [RCV002861666]	Chr15:89776987 [GRCh38] Chr15:90320218 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.912C>T (p.Ala304=)	single nucleotide variant	not provided [RCV003074468]	Chr15:89777269 [GRCh38] Chr15:90320500 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.868C>T (p.Pro290Ser)	single nucleotide variant	Inborn genetic diseases [RCV002774709]	Chr15:89777225 [GRCh38] Chr15:90320456 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.7del (p.Gln3fs)	deletion	not provided [RCV003015137]	Chr15:89776362 [GRCh38] Chr15:90319593 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.207G>C (p.Thr69=)	single nucleotide variant	not provided [RCV003032983]	Chr15:89776564 [GRCh38] Chr15:90319795 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.924+4T>A	single nucleotide variant	not provided [RCV002794833]	Chr15:89777285 [GRCh38] Chr15:90320516 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.718dup (p.Val240fs)	duplication	not provided [RCV002685950]	Chr15:89777069..89777070 [GRCh38] Chr15:90320300..90320301 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.393C>A (p.Tyr131Ter)	single nucleotide variant	not provided [RCV003021683]	Chr15:89776750 [GRCh38] Chr15:90319981 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.93G>C (p.Thr31=)	single nucleotide variant	not provided [RCV002889771]	Chr15:89776450 [GRCh38] Chr15:90319681 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.885G>A (p.Thr295=)	single nucleotide variant	not provided [RCV002846142]	Chr15:89777242 [GRCh38] Chr15:90320473 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.389G>A (p.Arg130His)	single nucleotide variant	Inborn genetic diseases [RCV003087873]\|not provided [RCV003078402]	Chr15:89776746 [GRCh38] Chr15:90319977 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.831C>T (p.Gly277=)	single nucleotide variant	not provided [RCV002590741]	Chr15:89777188 [GRCh38] Chr15:90320419 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.192A>C (p.Ala64=)	single nucleotide variant	not provided [RCV002760754]	Chr15:89776549 [GRCh38] Chr15:90319780 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.1051C>T (p.Pro351Ser)	single nucleotide variant	not provided [RCV003000190]	Chr15:89778191 [GRCh38] Chr15:90321422 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.145C>T (p.Arg49Cys)	single nucleotide variant	not provided [RCV002999127]	Chr15:89776502 [GRCh38] Chr15:90319733 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.924+9G>T	single nucleotide variant	not provided [RCV003021366]	Chr15:89777290 [GRCh38] Chr15:90320521 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.685G>T (p.Ala229Ser)	single nucleotide variant	not provided [RCV002592086]	Chr15:89777042 [GRCh38] Chr15:90320273 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.984C>T (p.His328=)	single nucleotide variant	not provided [RCV003038950]	Chr15:89778124 [GRCh38] Chr15:90321355 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.88T>A (p.Ser30Thr)	single nucleotide variant	not provided [RCV002952562]	Chr15:89776445 [GRCh38] Chr15:90319676 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.860C>A (p.Pro287His)	single nucleotide variant	Inborn genetic diseases [RCV002821740]	Chr15:89777217 [GRCh38] Chr15:90320448 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.210G>T (p.Thr70=)	single nucleotide variant	not provided [RCV002690953]	Chr15:89776567 [GRCh38] Chr15:90319798 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.21G>T (p.Pro7=)	single nucleotide variant	not provided [RCV003039094]	Chr15:89776378 [GRCh38] Chr15:90319609 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.1003C>T (p.Gln335Ter)	single nucleotide variant	not provided [RCV003085985]	Chr15:89778143 [GRCh38] Chr15:90321374 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.219A>C (p.Arg73=)	single nucleotide variant	not provided [RCV002875694]	Chr15:89776576 [GRCh38] Chr15:90319807 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.987A>G (p.Pro329=)	single nucleotide variant	not provided [RCV002829476]	Chr15:89778127 [GRCh38] Chr15:90321358 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.249G>C (p.Arg83=)	single nucleotide variant	not provided [RCV003041560]	Chr15:89776606 [GRCh38] Chr15:90319837 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.292del (p.Ala98fs)	deletion	not provided [RCV002741108]	Chr15:89776648 [GRCh38] Chr15:90319879 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.665C>G (p.Ser222Cys)	single nucleotide variant	not provided [RCV003083569]	Chr15:89777022 [GRCh38] Chr15:90320253 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.862C>T (p.Arg288Trp)	single nucleotide variant	Inborn genetic diseases [RCV003250820]\|not provided [RCV002625135]	Chr15:89777219 [GRCh38] Chr15:90320450 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.123T>G (p.Gly41=)	single nucleotide variant	not provided [RCV002872665]	Chr15:89776480 [GRCh38] Chr15:90319711 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.300C>T (p.Ala100=)	single nucleotide variant	not provided [RCV003024489]	Chr15:89776657 [GRCh38] Chr15:90319888 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.161C>A (p.Pro54Gln)	single nucleotide variant	Inborn genetic diseases [RCV002929727]	Chr15:89776518 [GRCh38] Chr15:90319749 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.123T>A (p.Gly41=)	single nucleotide variant	not provided [RCV002853410]	Chr15:89776480 [GRCh38] Chr15:90319711 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.471G>A (p.Gly157=)	single nucleotide variant	not provided [RCV002575894]	Chr15:89776828 [GRCh38] Chr15:90320059 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.495C>T (p.Cys165=)	single nucleotide variant	not provided [RCV003048242]	Chr15:89776852 [GRCh38] Chr15:90320083 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.30C>T (p.Leu10=)	single nucleotide variant	not provided [RCV002770146]	Chr15:89776387 [GRCh38] Chr15:90319618 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.174C>T (p.Ser58=)	single nucleotide variant	not provided [RCV003009859]	Chr15:89776531 [GRCh38] Chr15:90319762 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.797C>T (p.Thr266Ile)	single nucleotide variant	not provided [RCV002632983]	Chr15:89777154 [GRCh38] Chr15:90320385 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.452G>A (p.Arg151Lys)	single nucleotide variant	not provided [RCV003087477]	Chr15:89776809 [GRCh38] Chr15:90320040 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.332C>A (p.Ser111Tyr)	single nucleotide variant	not provided [RCV003091511]	Chr15:89776689 [GRCh38] Chr15:90319920 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.408G>A (p.Ser136=)	single nucleotide variant	not provided [RCV003047764]	Chr15:89776765 [GRCh38] Chr15:90319996 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.735C>G (p.Pro245=)	single nucleotide variant	not provided [RCV003029621]	Chr15:89777092 [GRCh38] Chr15:90320323 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.501C>T (p.Asp167=)	single nucleotide variant	not provided [RCV002877063]	Chr15:89776858 [GRCh38] Chr15:90320089 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.307G>A (p.Glu103Lys)	single nucleotide variant	not provided [RCV002922502]	Chr15:89776664 [GRCh38] Chr15:90319895 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.624G>A (p.Pro208=)	single nucleotide variant	not provided [RCV003026953]	Chr15:89776981 [GRCh38] Chr15:90320212 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.306C>G (p.His102Gln)	single nucleotide variant	not provided [RCV003062975]	Chr15:89776663 [GRCh38] Chr15:90319894 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.623C>T (p.Pro208Leu)	single nucleotide variant	not provided [RCV002895448]	Chr15:89776980 [GRCh38] Chr15:90320211 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.767A>C (p.Gln256Pro)	single nucleotide variant	not provided [RCV003091079]	Chr15:89777124 [GRCh38] Chr15:90320355 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.742A>G (p.Thr248Ala)	single nucleotide variant	not provided [RCV003087757]	Chr15:89777099 [GRCh38] Chr15:90320330 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.189C>T (p.Ala63=)	single nucleotide variant	not provided [RCV003090751]	Chr15:89776546 [GRCh38] Chr15:90319777 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.823C>A (p.Pro275Thr)	single nucleotide variant	not provided [RCV003089363]	Chr15:89777180 [GRCh38] Chr15:90320411 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.693C>G (p.Ala231=)	single nucleotide variant	not provided [RCV002938871]	Chr15:89777050 [GRCh38] Chr15:90320281 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.960G>A (p.Leu320=)	single nucleotide variant	not provided [RCV002720823]	Chr15:89778100 [GRCh38] Chr15:90321331 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.306C>T (p.His102=)	single nucleotide variant	not provided [RCV003091230]	Chr15:89776663 [GRCh38] Chr15:90319894 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.221C>G (p.Ala74Gly)	single nucleotide variant	Inborn genetic diseases [RCV002896882]	Chr15:89776578 [GRCh38] Chr15:90319809 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.1092C>T (p.Leu364=)	single nucleotide variant	not provided [RCV003089880]	Chr15:89778232 [GRCh38] Chr15:90321463 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.1126C>T (p.Arg376Trp)	single nucleotide variant	Inborn genetic diseases [RCV002723690]	Chr15:89778266 [GRCh38] Chr15:90321497 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.324G>T (p.Leu108=)	single nucleotide variant	not provided [RCV003052249]	Chr15:89776681 [GRCh38] Chr15:90319912 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.243A>G (p.Gly81=)	single nucleotide variant	not provided [RCV003093025]	Chr15:89776600 [GRCh38] Chr15:90319831 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.672C>A (p.Ser224=)	single nucleotide variant	not provided [RCV003071343]	Chr15:89777029 [GRCh38] Chr15:90320260 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.316C>A (p.Arg106Ser)	single nucleotide variant	not provided [RCV002654718]	Chr15:89776673 [GRCh38] Chr15:90319904 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.420T>G (p.Gly140=)	single nucleotide variant	not provided [RCV002609538]	Chr15:89776777 [GRCh38] Chr15:90320008 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.772C>T (p.Pro258Ser)	single nucleotide variant	not provided [RCV003070365]	Chr15:89777129 [GRCh38] Chr15:90320360 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.40G>T (p.Asp14Tyr)	single nucleotide variant	not provided [RCV003070475]	Chr15:89776397 [GRCh38] Chr15:90319628 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.217C>A (p.Arg73=)	single nucleotide variant	not provided [RCV002589231]	Chr15:89776574 [GRCh38] Chr15:90319805 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.925G>A (p.Gly309Ser)	single nucleotide variant	not provided [RCV003070125]	Chr15:89778065 [GRCh38] Chr15:90321296 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.207G>A (p.Thr69=)	single nucleotide variant	not provided [RCV002610421]	Chr15:89776564 [GRCh38] Chr15:90319795 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.220G>A (p.Ala74Thr)	single nucleotide variant	Inborn genetic diseases [RCV004634234]\|Spondylocostal dysostosis 2, autosomal recessive [RCV003132647]	Chr15:89776577 [GRCh38] Chr15:90319808 [GRCh37] Chr15:15q26.1	uncertain significance
GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	copy number gain	not provided [RCV003222840]	Chr15:84228005..102264590 [GRCh37] Chr15:15q25.2-26.3	pathogenic
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	copy number gain	not provided [RCV003222839]	Chr15:67358491..91644328 [GRCh37] Chr15:15q22.33-26.1	pathogenic
NM_001039958.2(MESP2):c.482G>A (p.Gly161Asp)	single nucleotide variant	Inborn genetic diseases [RCV003212735]	Chr15:89776839 [GRCh38] Chr15:90320070 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.229G>A (p.Gly77Arg)	single nucleotide variant	not specified [RCV003324414]	Chr15:89776586 [GRCh38] Chr15:90319817 [GRCh37] Chr15:15q26.1	uncertain significance
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	copy number gain	See cases [RCV003329502]	Chr15:75165490..102520892 [GRCh37] Chr15:15q24.1-26.3	pathogenic
NM_001039958.2(MESP2):c.660G>C (p.Trp220Cys)	single nucleotide variant	Inborn genetic diseases [RCV003365184]	Chr15:89777017 [GRCh38] Chr15:90320248 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.672C>G (p.Ser224=)	single nucleotide variant	not provided [RCV003570208]	Chr15:89777029 [GRCh38] Chr15:90320260 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.925-12T>A	single nucleotide variant	not provided [RCV003543084]	Chr15:89778053 [GRCh38] Chr15:90321284 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.321del (p.Leu108fs)	deletion	not provided [RCV003571407]	Chr15:89776676 [GRCh38] Chr15:90319907 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.335T>A (p.Leu112Ter)	single nucleotide variant	not provided [RCV003571776]	Chr15:89776692 [GRCh38] Chr15:90319923 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.1A>G (p.Met1Val)	single nucleotide variant	not specified [RCV003479940]	Chr15:89776358 [GRCh38] Chr15:90319589 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.210G>A (p.Thr70=)	single nucleotide variant	not provided [RCV003543126]	Chr15:89776567 [GRCh38] Chr15:90319798 [GRCh37] Chr15:15q26.1	likely benign
GRCh37/hg19 15q26.1(chr15:89976407-90387346)x1	copy number loss	not provided [RCV003483247]	Chr15:89976407..90387346 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.49del (p.Ile17fs)	deletion	Spondylocostal dysostosis 2, autosomal recessive [RCV003388863]	Chr15:89776406 [GRCh38] Chr15:90319637 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.427G>T (p.Glu143Ter)	single nucleotide variant	not provided [RCV003691251]	Chr15:89776784 [GRCh38] Chr15:90320015 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.663A>C (p.Gly221=)	single nucleotide variant	not provided [RCV003577380]	Chr15:89777020 [GRCh38] Chr15:90320251 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.373C>T (p.Leu125=)	single nucleotide variant	not provided [RCV003577595]	Chr15:89776730 [GRCh38] Chr15:90319961 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.672C>T (p.Ser224=)	single nucleotide variant	not provided [RCV003829935]	Chr15:89777029 [GRCh38] Chr15:90320260 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.924+20C>T	single nucleotide variant	not provided [RCV003740240]	Chr15:89777301 [GRCh38] Chr15:90320532 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.146_161dup (p.Gln55fs)	duplication	not provided [RCV003692633]	Chr15:89776500..89776501 [GRCh38] Chr15:90319731..90319732 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.372G>T (p.Thr124=)	single nucleotide variant	not provided [RCV003695764]	Chr15:89776729 [GRCh38] Chr15:90319960 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.709G>C (p.Gly237Arg)	single nucleotide variant	not provided [RCV003740095]	Chr15:89777066 [GRCh38] Chr15:90320297 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.714G>A (p.Arg238=)	single nucleotide variant	not provided [RCV003572986]	Chr15:89777071 [GRCh38] Chr15:90320302 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.480G>A (p.Trp160Ter)	single nucleotide variant	not provided [RCV003573075]	Chr15:89776837 [GRCh38] Chr15:90320068 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.1167G>A (p.Glu389=)	single nucleotide variant	not provided [RCV003545811]	Chr15:89778307 [GRCh38] Chr15:90321538 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.249_250delinsTT (p.Gln84Ter)	indel	not provided [RCV003691241]	Chr15:89776606..89776607 [GRCh38] Chr15:90319837..90319838 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.924+13G>A	single nucleotide variant	not provided [RCV003738952]	Chr15:89777294 [GRCh38] Chr15:90320525 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.837del (p.Trp280fs)	deletion	not specified [RCV003490832]	Chr15:89777192 [GRCh38] Chr15:90320423 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.558_573delinsAGGA (p.180QG[11])	indel	not specified [RCV003490889]	Chr15:89776915..89776930 [GRCh38] Chr15:90320146..90320161 [GRCh37] Chr15:15q26.1	benign
NM_001039958.2(MESP2):c.21G>A (p.Pro7=)	single nucleotide variant	not provided [RCV003690593]	Chr15:89776378 [GRCh38] Chr15:90319609 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.925-14C>T	single nucleotide variant	not provided [RCV003575696]	Chr15:89778051 [GRCh38] Chr15:90321282 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.86dup (p.Asp29fs)	duplication	not provided [RCV003695282]	Chr15:89776442..89776443 [GRCh38] Chr15:90319673..90319674 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.846G>A (p.Gln282=)	single nucleotide variant	not provided [RCV003694132]	Chr15:89777203 [GRCh38] Chr15:90320434 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.1170G>A (p.Gly390=)	single nucleotide variant	not provided [RCV003876131]	Chr15:89778310 [GRCh38] Chr15:90321541 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.543G>A (p.Gly181=)	single nucleotide variant	not provided [RCV003714955]	Chr15:89776900 [GRCh38] Chr15:90320131 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.141C>T (p.Gly47=)	single nucleotide variant	not provided [RCV003544714]	Chr15:89776498 [GRCh38] Chr15:90319729 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.125C>A (p.Ser42Ter)	single nucleotide variant	not provided [RCV003879911]	Chr15:89776482 [GRCh38] Chr15:90319713 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.399C>T (p.Gly133=)	single nucleotide variant	not provided [RCV003545120]	Chr15:89776756 [GRCh38] Chr15:90319987 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.421C>G (p.Leu141Val)	single nucleotide variant	not provided [RCV003824898]	Chr15:89776778 [GRCh38] Chr15:90320009 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.798C>A (p.Thr266=)	single nucleotide variant	not provided [RCV003713971]	Chr15:89777155 [GRCh38] Chr15:90320386 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.333C>G (p.Ser111=)	single nucleotide variant	not provided [RCV003575698]	Chr15:89776690 [GRCh38] Chr15:90319921 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.366C>A (p.Ile122=)	single nucleotide variant	not provided [RCV003875862]	Chr15:89776723 [GRCh38] Chr15:90319954 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.429G>A (p.Glu143=)	single nucleotide variant	not provided [RCV003580727]	Chr15:89776786 [GRCh38] Chr15:90320017 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.840G>A (p.Trp280Ter)	single nucleotide variant	not provided [RCV003550260]	Chr15:89777197 [GRCh38] Chr15:90320428 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.948C>G (p.Pro316=)	single nucleotide variant	not provided [RCV003810877]	Chr15:89778088 [GRCh38] Chr15:90321319 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.885G>T (p.Thr295=)	single nucleotide variant	not provided [RCV003810759]	Chr15:89777242 [GRCh38] Chr15:90320473 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.925-16C>G	single nucleotide variant	not provided [RCV003856737]	Chr15:89778049 [GRCh38] Chr15:90321280 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.924+13G>T	single nucleotide variant	not provided [RCV003837015]	Chr15:89777294 [GRCh38] Chr15:90320525 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.459C>G (p.Arg153=)	single nucleotide variant	not provided [RCV003665552]	Chr15:89776816 [GRCh38] Chr15:90320047 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.867C>T (p.Asn289=)	single nucleotide variant	not provided [RCV003670394]	Chr15:89777224 [GRCh38] Chr15:90320455 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.90C>T (p.Ser30=)	single nucleotide variant	not provided [RCV003665684]	Chr15:89776447 [GRCh38] Chr15:90319678 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.117G>C (p.Ser39=)	single nucleotide variant	not provided [RCV003579955]	Chr15:89776474 [GRCh38] Chr15:90319705 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.924+19G>T	single nucleotide variant	not provided [RCV003670376]	Chr15:89777300 [GRCh38] Chr15:90320531 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.1122C>G (p.Gly374=)	single nucleotide variant	not provided [RCV003724962]	Chr15:89778262 [GRCh38] Chr15:90321493 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.204G>C (p.Ala68=)	single nucleotide variant	not provided [RCV003667610]	Chr15:89776561 [GRCh38] Chr15:90319792 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.924+19G>C	single nucleotide variant	not provided [RCV003724833]	Chr15:89777300 [GRCh38] Chr15:90320531 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.976C>T (p.Leu326=)	single nucleotide variant	not provided [RCV003724809]	Chr15:89778116 [GRCh38] Chr15:90321347 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.1176C>T (p.Arg392=)	single nucleotide variant	not provided [RCV003850012]	Chr15:89778316 [GRCh38] Chr15:90321547 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.267G>C (p.Arg89=)	single nucleotide variant	not provided [RCV003700780]	Chr15:89776624 [GRCh38] Chr15:90319855 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.489G>C (p.Pro163=)	single nucleotide variant	not provided [RCV003564178]	Chr15:89776846 [GRCh38] Chr15:90320077 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.1143T>G (p.Pro381=)	single nucleotide variant	not provided [RCV003705260]	Chr15:89778283 [GRCh38] Chr15:90321514 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.925-4G>A	single nucleotide variant	not provided [RCV003706445]	Chr15:89778061 [GRCh38] Chr15:90321292 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.603G>T (p.Gly201=)	single nucleotide variant	not provided [RCV003563371]	Chr15:89776960 [GRCh38] Chr15:90320191 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.990A>G (p.Ser330=)	single nucleotide variant	not provided [RCV003818598]	Chr15:89778130 [GRCh38] Chr15:90321361 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.33C>A (p.Leu11=)	single nucleotide variant	not provided [RCV003679854]	Chr15:89776390 [GRCh38] Chr15:90319621 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.925-9C>T	single nucleotide variant	not provided [RCV003864518]	Chr15:89778056 [GRCh38] Chr15:90321287 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.309G>A (p.Glu103=)	single nucleotide variant	not provided [RCV003681549]	Chr15:89776666 [GRCh38] Chr15:90319897 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.417G>A (p.Leu139=)	single nucleotide variant	not provided [RCV003820863]	Chr15:89776774 [GRCh38] Chr15:90320005 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.258C>A (p.Ala86=)	single nucleotide variant	not provided [RCV003845883]	Chr15:89776615 [GRCh38] Chr15:90319846 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.408G>C (p.Ser136=)	single nucleotide variant	not provided [RCV003684087]	Chr15:89776765 [GRCh38] Chr15:90319996 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.573G>T (p.Gly191=)	single nucleotide variant	not provided [RCV003844833]	Chr15:89776930 [GRCh38] Chr15:90320161 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.627C>T (p.Gly209=)	single nucleotide variant	not provided [RCV003862516]	Chr15:89776984 [GRCh38] Chr15:90320215 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.925-16C>A	single nucleotide variant	not provided [RCV003551228]	Chr15:89778049 [GRCh38] Chr15:90321280 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.193G>T (p.Glu65Ter)	single nucleotide variant	not provided [RCV003684884]	Chr15:89776550 [GRCh38] Chr15:90319781 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.924+15C>T	single nucleotide variant	not provided [RCV003737876]	Chr15:89777296 [GRCh38] Chr15:90320527 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.287C>A (p.Thr96Lys)	single nucleotide variant	not provided [RCV003676769]	Chr15:89776644 [GRCh38] Chr15:90319875 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.171G>A (p.Pro57=)	single nucleotide variant	not provided [RCV003555381]	Chr15:89776528 [GRCh38] Chr15:90319759 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.1050G>A (p.Val350=)	single nucleotide variant	MESP2-related disorder [RCV003956466]\|not provided [RCV003721499]	Chr15:89778190 [GRCh38] Chr15:90321421 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.849G>A (p.Ser283=)	single nucleotide variant	not provided [RCV003737518]	Chr15:89777206 [GRCh38] Chr15:90320437 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.78C>T (p.Gly26=)	single nucleotide variant	not provided [RCV003677555]	Chr15:89776435 [GRCh38] Chr15:90319666 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.63C>A (p.Gly21=)	single nucleotide variant	not provided [RCV003869833]	Chr15:89776420 [GRCh38] Chr15:90319651 [GRCh37] Chr15:15q26.1	likely benign
GRCh37/hg19 15q26.1(chr15:90273673-90331282)x1	copy number loss	not specified [RCV003987115]	Chr15:90273673..90331282 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.288del (p.Leu97fs)	deletion	not provided [RCV003683295]	Chr15:89776645 [GRCh38] Chr15:90319876 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.367G>T (p.Glu123Ter)	single nucleotide variant	not provided [RCV003734659]	Chr15:89776724 [GRCh38] Chr15:90319955 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.249G>A (p.Arg83=)	single nucleotide variant	not provided [RCV003734730]	Chr15:89776606 [GRCh38] Chr15:90319837 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.288G>C (p.Thr96=)	single nucleotide variant	not provided [RCV003679781]	Chr15:89776645 [GRCh38] Chr15:90319876 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.234A>C (p.Pro78=)	single nucleotide variant	not provided [RCV003844759]	Chr15:89776591 [GRCh38] Chr15:90319822 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.322C>T (p.Leu108=)	single nucleotide variant	not provided [RCV003542897]	Chr15:89776679 [GRCh38] Chr15:90319910 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.265C>A (p.Arg89=)	single nucleotide variant	not provided [RCV003730977]	Chr15:89776622 [GRCh38] Chr15:90319853 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.510C>T (p.Pro170=)	single nucleotide variant	not provided [RCV003734240]	Chr15:89776867 [GRCh38] Chr15:90320098 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.654G>A (p.Ala218=)	single nucleotide variant	not provided [RCV003565083]	Chr15:89777011 [GRCh38] Chr15:90320242 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.372G>A (p.Thr124=)	single nucleotide variant	not provided [RCV003677413]	Chr15:89776729 [GRCh38] Chr15:90319960 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.1170G>T (p.Gly390=)	single nucleotide variant	not provided [RCV003568134]	Chr15:89778310 [GRCh38] Chr15:90321541 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.891C>T (p.Ala297=)	single nucleotide variant	not provided [RCV003730034]	Chr15:89777248 [GRCh38] Chr15:90320479 [GRCh37] Chr15:15q26.1	likely benign
NM_001039958.2(MESP2):c.157C>T (p.Gln53Ter)	single nucleotide variant	Spondylocostal dysostosis 2, autosomal recessive [RCV003989086]	Chr15:89776514 [GRCh38] Chr15:90319745 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.248G>T (p.Arg83Leu)	single nucleotide variant	Inborn genetic diseases [RCV004424230]	Chr15:89776605 [GRCh38] Chr15:90319836 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.295C>T (p.Arg99Cys)	single nucleotide variant	Inborn genetic diseases [RCV004424231]	Chr15:89776652 [GRCh38] Chr15:90319883 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.851C>G (p.Ser284Cys)	single nucleotide variant	Inborn genetic diseases [RCV004424233]	Chr15:89777208 [GRCh38] Chr15:90320439 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.1139G>A (p.Cys380Tyr)	single nucleotide variant	Inborn genetic diseases [RCV004424228]	Chr15:89778279 [GRCh38] Chr15:90321510 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.116C>T (p.Ser39Leu)	single nucleotide variant	Inborn genetic diseases [RCV004424229]	Chr15:89776473 [GRCh38] Chr15:90319704 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.43C>G (p.His15Asp)	single nucleotide variant	Inborn genetic diseases [RCV004424232]	Chr15:89776400 [GRCh38] Chr15:90319631 [GRCh37] Chr15:15q26.1	uncertain significance
NC_000015.9:g.(?_89379429)_(91312836_?)del	deletion	Bloom syndrome [RCV004582913]\|D-2-hydroxyglutaric aciduria 2 [RCV004582914]	Chr15:89379429..91312836 [GRCh37] Chr15:15q26.1	pathogenic\|uncertain significance
NM_001039958.2(MESP2):c.613G>T (p.Gly205Trp)	single nucleotide variant	Inborn genetic diseases [RCV004645299]	Chr15:89776970 [GRCh38] Chr15:90320201 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.110C>G (p.Ser37Cys)	single nucleotide variant	Inborn genetic diseases [RCV004645300]	Chr15:89776467 [GRCh38] Chr15:90319698 [GRCh37] Chr15:15q26.1	uncertain significance
NM_001039958.2(MESP2):c.676T>C (p.Cys226Arg)	single nucleotide variant	Inborn genetic diseases [RCV004645301]	Chr15:89777033 [GRCh38] Chr15:90320264 [GRCh37] Chr15:15q26.1	uncertain significance
NC_000015.9:g.(?_90319589)_(90321565_?)del	deletion	not provided [RCV004583102]	Chr15:90319589..90321565 [GRCh37] Chr15:15q26.1	pathogenic
NM_001039958.2(MESP2):c.250C>A (p.Gln84Lys)	single nucleotide variant	not specified [RCV004689543]	Chr15:89776607 [GRCh38] Chr15:90319838 [GRCh37] Chr15:15q26.1	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	686
Count of miRNA genes:	338
Interacting mature miRNAs:	369
Transcripts:	ENST00000341735, ENST00000558723, ENST00000560219
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

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

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

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597030021	GWAS1126095_H	coronary aneurysm QTL GWAS1126095 (human)		0.0000007	coronary aneurysm		15	89777808	89777809	Human

Markers in Region

STS-W74095

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	90,321,673 - 90,321,929	UniSTS	GRCh37
Build 36	15	88,122,677 - 88,122,933	RGD	NCBI36
Celera	15	66,724,461 - 66,724,717	RGD
Cytogenetic Map	15	q26.1	UniSTS
HuRef	15	66,434,359 - 66,434,615	UniSTS
GeneMap99-GB4 RH Map	15	318.56	UniSTS

Expression

RNA-SEQ Expression

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
1195	2062	2396	1897	4822	1526	2044	1	525	1095	367	2236	5616	5157	46	3601	794	1551	1411	170

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_008608	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001039958	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC079075	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL360139	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC111413	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BK000142	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068263	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT584845	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000341735 ⟹ ENSP00000342392

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	89,776,332 - 89,778,754 (+)	Ensembl

Ensembl Acc Id:

ENST00000558723

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	89,760,601 - 89,778,674 (+)	Ensembl

Ensembl Acc Id:

ENST00000560219 ⟹ ENSP00000452998

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	89,760,591 - 89,778,754 (+)	Ensembl

RefSeq Acc Id:

NM_001039958 ⟹ NP_001035047

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	89,776,332 - 89,778,754 (+)	NCBI
GRCh37	15	90,319,589 - 90,321,985 (+)	RGD
Build 36	15	88,120,593 - 88,122,989 (+)	NCBI Archive
Celera	15	66,722,377 - 66,724,773 (+)	RGD
HuRef	15	66,432,299 - 66,434,671 (+)	RGD
CHM1_1	15	90,160,596 - 90,162,992 (+)	NCBI
T2T-CHM13v2.0	15	87,532,244 - 87,534,642 (+)	NCBI

Sequence:

show sequence

AGCCTCCCAGAGCCTGCAGCCCGGCCATGGCCCAGTCGCCTCCTCCGCAGAGCCTCCTCGGCCA
CGACCACTGGATCTTCGCCCAGGGCTGGGGCTGGGCCGGCCACTGGGACTCCACGTCCCCGGCC
TCCTCCTCCGATTCGTCGGGTTCGTGCCCCTGCGACGGCGCCCGCGGACTCCCGCAGCCACAGC
CTCCGAGCTGCAGCTCCCGAGCCGCAGAGGCAGCCGCGACGACGCCCAGACGAGCGCGCACCGG
ACCAGCGGGCGGACAGCGGCAGAGCGCCAGCGAGCGGGAGAAACTGCGCATGCGCACGCTGGCC
CGCGCCCTGCACGAGTTGCGCCGCTTTCTGCCTCCCTCCTTGGCGCCGGCCGGCCAGAGCCTGA
CCAAGATCGAGACGCTGCGCCTGGCCATCCGCTACATCGGCCACCTATCGGCCGTGCTGGGTCT
CAGCGAGGAGAGTCTGCAGTGCCGGCGCAGGCAGCGCGGGGACGCGGGGTCCCCTTGGGGCTGC
CCGCTGTGCCCCGACCGTGGCCCCGCAGAGGCGCAGACGCAGGCGGAGGGGCAGGGGCAAGGGC
AGGGGCAGGGGCAGGGGCAAGGGCAGGGGCAAGGACAGGGGCAAGGACAGGGGCAAGGGCAGGG
GCGCAGGCCGGGCCTGGTCTCCGCCGTCCTCGCCGAGGCGTCCTGGGGATCCCCGTCCGCCTGC
CCCGGAGCCCAAGCCGCACCCGAGCGCCTGGGGAGGGGGGTCCACGACACGGATCCCTGGGCAA
CACCCCCTTACTGCCCCAAGATACAGTCGCCCCCGTATTCGTCCCAAGGGACAACCTCCGACGC
GTCTCTTTGGACGCCACCCCAAGGCTGTCCCTGGACGCAGTCGTCCCCAGAGCCCCGGAACCCA
CCAGTGCCCTGGACGGCGGCCCCAGCAACTTTGGAGCTGGCCGCAGTGTACCAGGGTCTCTCTG
TGTCTCCAGAGCCCTGTCTGTCGCTGGGAGCTCCATCTCTCCTGCCCCACCCATCATGCCAGAG
ACTGCAGCCTCAGACCCCCGGGAGGTGCTGGAGCCACAGTGCAGAGGTGGTGCCCAACTCAGAG
GACCAGGGACCGGGCGCCGCCTTCCAGCTCAGTGAAGCAAGCCCTCCCCAGAGCTCAGGCCTGC
GGTTCAGTGGCTGCCCTGAACTTTGGCAAGAAGATCTGGAGGGGGCCCGCCTGGGCATCTTCTA
CTAAATGGCCTCGGCTTCCCTCTTTCCATCCAGGAATCAGTCCTGTAGCTTGGGTGCCTCCTTA
TTTGTTAATTAGTGGCTTTTCATGTTCTCCTTTAGCCAAGGCTCCCTTTTTCCAAGTGATGTCT
TTCAGGGAAGCAGTGTTTGAAATAGATAGCGGGTACCTTCCCTGGATGGAGTCAGGGCGGGGGC
ACTGTCCTCCACTGCTAGACACCCCCAGAATGCCTGGCGCTCTGCAGAGCACAGTCTGAGCTGC
TCTAAGAAGGGGTCTCCTTTACCCTAAAGGCAGCTGGGCAGGGACAGGTGGGAGAATGGGTGTA
GGAGGCAGGCCCCAGGCTCTGCTTCTTGGTGACAGTTGGCCAGAGCCCTGTATGCTTTGATTTT
TTTGTACTTAAAAAGAAAAAACACACACACACAACAAAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001035047	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAI11414	(Get FASTA)	NCBI Sequence Viewer
	DAA00304	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000342392
	ENSP00000342392.3
	ENSP00000452998.1
GenBank Protein	Q0VG99	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_001035047 ⟸ NM_001039958

- UniProtKB:

Q0VG99 (UniProtKB/Swiss-Prot), Q7RTU2 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MAQSPPPQSLLGHDHWIFAQGWGWAGHWDSTSPASSSDSSGSCPCDGARGLPQPQPPSCSSRAA
EAAATTPRRARTGPAGGQRQSASEREKLRMRTLARALHELRRFLPPSLAPAGQSLTKIETLRLA
IRYIGHLSAVLGLSEESLQCRRRQRGDAGSPWGCPLCPDRGPAEAQTQAEGQGQGQGQGQGQGQ
GQGQGQGQGQGQGRRPGLVSAVLAEASWGSPSACPGAQAAPERLGRGVHDTDPWATPPYCPKIQ
SPPYSSQGTTSDASLWTPPQGCPWTQSSPEPRNPPVPWTAAPATLELAAVYQGLSVSPEPCLSL
GAPSLLPHPSCQRLQPQTPGRCWSHSAEVVPNSEDQGPGAAFQLSEASPPQSSGLRFSGCPELW
QEDLEGARLGIFY

hide sequence

Ensembl Acc Id:

ENSP00000452998 ⟸ ENST00000560219

Ensembl Acc Id:

ENSP00000342392 ⟸ ENST00000341735

Protein Domains

bHLH

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q0VG99-F1-model_v2	AlphaFold	Q0VG99	1-397	view protein structure

Promoters

RGD ID:

6792449

Promoter ID:

HG_KWN:22311

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

NM_001039958

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	15	88,120,611 - 88,121,111 (+)	MPROMDB

RGD ID:

7230489

Promoter ID:

EPDNEW_H20990

Type:

initiation region

Name:

MESP2_2

Description:

mesoderm posterior bHLH transcription factor 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H20988 EPDNEW_H20989

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	89,776,332 - 89,776,392	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:29659	AgrOrtholog
COSMIC	MESP2	COSMIC
Ensembl Genes	ENSG00000188095	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000341735	ENTREZGENE
	ENST00000341735.5	UniProtKB/Swiss-Prot
	ENST00000560219.2	UniProtKB/TrEMBL
Gene3D-CATH	4.10.280.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000188095	GTEx
HGNC ID	HGNC:29659	ENTREZGENE
Human Proteome Map	MESP2	Human Proteome Map
InterPro	bHLH_dom	UniProtKB/Swiss-Prot
	HLH_DNA-bd_sf	UniProtKB/Swiss-Prot
	Mesogenin/MesP	UniProtKB/Swiss-Prot
KEGG Report	hsa:145873	UniProtKB/Swiss-Prot
NCBI Gene	145873	ENTREZGENE
OMIM	605195	OMIM
PANTHER	MESODERM POSTERIOR PROTEIN 2	UniProtKB/Swiss-Prot
	PTHR20937	UniProtKB/Swiss-Prot
Pfam	HLH	UniProtKB/Swiss-Prot
PharmGKB	PA142671469	PharmGKB
PROSITE	BHLH	UniProtKB/Swiss-Prot
SMART	HLH	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF47459	UniProtKB/Swiss-Prot
UniProt	H0YKZ5_HUMAN	UniProtKB/TrEMBL
	MESP2_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q7RTU2	ENTREZGENE
UniProt Secondary	Q7RTU2	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-06-23	MESP2	mesoderm posterior bHLH transcription factor 2	MESP2	mesoderm posterior basic helix-loop-helix transcription factor 2	Symbol and/or name change	5135510	APPROVED
2014-07-08	MESP2	mesoderm posterior basic helix-loop-helix transcription factor 2	MESP2	mesoderm posterior 2 homolog (mouse)	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)

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