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Gene: EFEMP2 (EGF containing fibulin extracellular matrix protein 2) Homo sapiens

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Symbol:

EFEMP2

Name:

EGF containing fibulin extracellular matrix protein 2

RGD ID:

1349728

HGNC Page

HGNC:3219

Description:

Enables heparin binding activity and protein homodimerization activity. Involved in elastic fiber assembly and positive regulation of smooth muscle cell-matrix adhesion. Located in elastic fiber. Implicated in aortic aneurysm; arterial tortuosity syndrome; autosomal recessive cutis laxa type IB; endometrial cancer; and osteosarcoma. Biomarker of aortic dissection; bone osteosarcoma; cervix carcinoma; endometrial cancer; and ovarian cancer.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

ARCL1B; EGF containing fibulin like extracellular matrix protein 2; EGF containing fibulin-like extracellular matrix protein 2; EGF-containing fibulin-like extracellular matrix protein 2; FBLN4; FIBL-4; fibulin 4; fibulin-4; MBP1; mutant p53 binding protein 1; UPH1

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	11	65,866,441 - 65,872,800 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	65,866,441 - 65,873,592 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	65,633,912 - 65,640,271 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	65,390,488 - 65,396,852 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	65,390,494 - 65,396,793	NCBI
Celera	11	62,957,818 - 62,964,246 (-)	NCBI		Celera
Cytogenetic Map	11	q13.1	NCBI
HuRef	11	61,960,429 - 61,966,923 (-)	NCBI		HuRef
CHM1_1	11	65,518,326 - 65,524,819 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	11	65,860,912 - 65,867,272 (-)	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

Aicardi-Goutieres Syndrome 3 (IAGP)

aortic aneurysm (IAGP,ISS)

aortic disease (IAGP)

aortic dissection (IEP)

arterial tortuosity syndrome (IAGP)

Autosomal Recessive Cutis Laxa (IAGP)

autosomal recessive cutis laxa type IA (IAGP)

autosomal recessive cutis laxa type IB (IAGP)

Bardet-Biedl syndrome (IAGP)

bone osteosarcoma (IEP)

cervix carcinoma (IEP)

cutis laxa (IAGP,ISS)

endometrial cancer (IEP,IMP)

glycogen storage disease V (IAGP)

intellectual disability (IAGP)

osteoarthritis (ISO)

osteosarcoma (IMP)

ovarian cancer (IEP)

Prostatic Neoplasms (EXP)

Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations (IAGP)

thoracic aortic aneurysm (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP)

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

4,4'-diaminodiphenylmethane (ISO)

5-aza-2'-deoxycytidine (EXP)

acetamide (ISO)

acrylamide (EXP,ISO)

all-trans-retinoic acid (EXP)

amphetamine (ISO)

antirheumatic drug (EXP)

aristolochic acid A (EXP)

Azoxymethane (ISO)

benzo[a]pyrene (EXP,ISO)

benzo[b]fluoranthene (ISO)

beta-naphthoflavone (ISO)

bisphenol A (EXP,ISO)

cadmium atom (EXP)

cadmium dichloride (EXP)

calcitriol (EXP)

carbon nanotube (ISO)

CGP 52608 (EXP)

choline (ISO)

cisplatin (EXP,ISO)

cytarabine (EXP)

dextran sulfate (ISO)

dibutyl phthalate (ISO)

diethylstilbestrol (EXP)

diuron (ISO)

dorsomorphin (EXP)

doxorubicin (EXP)

elemental selenium (EXP)

folic acid (ISO)

furan (ISO)

gentamycin (ISO)

isotretinoin (EXP)

L-methionine (ISO)

lead(0) (EXP)

methylmercury chloride (EXP)

methylseleninic acid (EXP)

N-nitrosodiethylamine (ISO)

nickel dichloride (EXP)

nickel sulfate (EXP)

oxaliplatin (ISO)

ozone (EXP)

paracetamol (EXP,ISO)

potassium chromate (EXP)

SB 431542 (EXP)

selenium atom (EXP)

sodium dodecyl sulfate (EXP)

Soman (ISO)

sotorasib (EXP)

sunitinib (EXP)

tacrolimus hydrate (ISO)

tamoxifen (ISO)

temozolomide (EXP)

testosterone enanthate (EXP)

titanium dioxide (ISO)

topotecan (ISO)

trametinib (EXP)

Tributyltin oxide (ISO)

trichostatin A (EXP)

triphenyl phosphate (EXP)

triptonide (ISO)

valproic acid (EXP)

vancomycin (ISO)

vitamin E (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

aorta development (ISS)

aorta smooth muscle tissue morphogenesis (ISS)

artery development (ISO)

elastic fiber assembly (IMP,ISO,ISS)

negative regulation of vascular associated smooth muscle cell proliferation (ISS)

positive regulation of aortic smooth muscle cell differentiation (ISS)

positive regulation of collagen fibril organization (ISS)

positive regulation of smooth muscle cell-matrix adhesion (IMP)

regulation of collagen fibril organization (ISS)

vascular associated smooth muscle cell development (ISS)

Cellular Component

basement membrane (IEA,ISS,TAS)

collagen-containing extracellular matrix (HDA)

elastic fiber (IDA,ISS)

extracellular exosome (HDA)

extracellular matrix (IDA,IEA,ISS)

extracellular region (IEA,TAS)

extracellular vesicle (HDA)

microfibril (ISS)

Molecular Function

calcium ion binding (IEA)

extracellular matrix structural constituent (RCA,TAS)

heparin binding (IDA)

protein binding (IPI)

protein homodimerization activity (IDA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal cardiac ventricular function (IAGP)

Abnormal cardiovascular system morphology (IAGP)

Abnormal cheek morphology (IAGP)

Abnormal facial shape (IAGP)

Abnormal pinna morphology (IAGP)

Abnormal skull morphology (IAGP)

Abnormal systemic arterial morphology (IAGP)

Abnormality of the face (IAGP)

Abnormality of the thoracic cavity (IAGP)

Aortic root aneurysm (IAGP)

Arachnodactyly (IAGP)

Arterial tortuosity (IAGP)

Ascending tubular aorta aneurysm (IAGP)

Autosomal recessive inheritance (IAGP)

Bowing of the long bones (IAGP)

Bradycardia (IAGP)

Bulbous nose (IAGP)

Congenital diaphragmatic hernia (IAGP)

Congenital onset (IAGP)

Congestive heart failure (IAGP)

Convex nasal ridge (IAGP)

Cutis laxa (IAGP)

Death in childhood (IAGP)

Depressed nasal bridge (IAGP)

Dermal translucency (IAGP)

Dermatochalasis (IAGP)

Dilatation of the ventricular cavity (IAGP)

Downslanted palpebral fissures (IAGP)

Emphysema (IAGP)

Flat face (IAGP)

Fragmented elastic fibers in the dermis (IAGP)

Generalized arterial tortuosity (IAGP)

Hernia (IAGP)

High palate (IAGP)

Hip dislocation (IAGP)

Hypertelorism (IAGP)

Hypoplasia of the diaphragm (IAGP)

Hypotonia (IAGP)

Inguinal hernia (IAGP)

Intellectual disability (IAGP)

Intrauterine growth retardation (IAGP)

Intussusception (IAGP)

Joint hypermobility (IAGP)

Joint subluxation (IAGP)

Lack of skin elasticity (IAGP)

Long fingers (IAGP)

Low-set ears (IAGP)

Microcephaly (IAGP)

Micrognathia (IAGP)

Motor delay (IAGP)

Multiple bladder diverticula (IAGP)

Narrow palpebral fissure (IAGP)

Neonatal death (IAGP)

Oligohydramnios (IAGP)

Overgrowth (IAGP)

Pathologic fracture (IAGP)

Pectus excavatum (IAGP)

Peripheral pulmonary artery stenosis (IAGP)

Pneumothorax (IAGP)

Prominence of the premaxilla (IAGP)

Prominent forehead (IAGP)

Proptosis (IAGP)

Pulmonary arterial hypertension (IAGP)

Pulmonary artery aneurysm (IAGP)

Pulmonary artery dilatation (IAGP)

Pulmonic regurgitation (IAGP)

Pyelonephritis (IAGP)

Pyloric stenosis (IAGP)

Recurrent pneumonia (IAGP)

Recurrent urinary tract infections (IAGP)

Redundant skin (IAGP)

Respiratory insufficiency (IAGP)

Retrognathia (IAGP)

Right ventricular dilatation (IAGP)

Scarring (IAGP)

Small bowel diverticula (IAGP)

Soft skin (IAGP)

Spina bifida (IAGP)

Stroke (IAGP)

Supravalvular aortic stenosis (IAGP)

Tricuspid regurgitation (IAGP)

Urethral diverticulum (IAGP)

Vascular dilatation (IAGP)

Vascular tortuosity (IAGP)

Vesicoureteral reflux (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Recessively inherited severe aortic aneurysm caused by mutated EFEMP2.	Al-Hassnan ZN, etal., Am J Cardiol. 2012 Jun 1;109(11):1677-80. doi: 10.1016/j.amjcard.2012.01.394. Epub 2012 Mar 20.
2.	Fibulin-4 is associated with tumor progression and a poor prognosis in ovarian carcinomas.	Chen J, etal., BMC Cancer. 2015 Mar 4;15:91. doi: 10.1186/s12885-015-1100-9.
3.	Overexpression of fibulin-4 is associated with tumor progression and poor prognosis in patients with cervical carcinoma.	Chen J, etal., Oncol Rep. 2014 Jun;31(6):2601-10. doi: 10.3892/or.2014.3139. Epub 2014 Apr 16.
4.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
5.	Decreased expression of fibulin-4 in aortic wall of aortic dissection.	Huawei P, etal., Vascular. 2014 Feb;22(1):35-41. doi: 10.1177/1708538112473976.
6.	Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis.	Kappanayil M, etal., Orphanet J Rare Dis. 2012 Sep 3;7:61. doi: 10.1186/1750-1172-7-61.
7.	Fibulin-4 is a novel Wnt/β-Catenin pathway activator in human osteosarcoma.	Li R and Wang L, Biochem Biophys Res Commun. 2016 Jun 10;474(4):730-735. doi: 10.1016/j.bbrc.2016.05.018. Epub 2016 May 5.
8.	miR-211-5p contributes to chondrocyte differentiation by suppressing Fibulin-4 expression to play a role in osteoarthritis.	Liu H and Luo J, J Biochem. 2019 Dec 1;166(6):495-502. doi: 10.1093/jb/mvz065.
9.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
10.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
12.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
13.	Fibulin-4 is associated with prognosis of endometrial cancer patients and inhibits cancer cell invasion and metastasis via Wnt/β-catenin signaling pathway.	Wang T, etal., Oncotarget. 2017 Mar 21;8(12):18991-19012. doi: 10.18632/oncotarget.15086.
14.	Fibulin-4 promotes osteosarcoma invasion and metastasis by inducing epithelial to mesenchymal transition via the PI3K/Akt/mTOR pathway.	Zhang D, etal., Int J Oncol. 2017 May;50(5):1513-1530. doi: 10.3892/ijo.2017.3921. Epub 2017 Mar 21.

Additional References at PubMed

PMID:10380882	PMID:10601734	PMID:10982184	PMID:11231014	PMID:12107411	PMID:12477932	PMID:12975309	PMID:14702039	PMID:15342556	PMID:15489334	PMID:16189514	PMID:16303743
PMID:16478991	PMID:16493080	PMID:16554811	PMID:16685658	PMID:16713569	PMID:17255108	PMID:18973305	PMID:19199708	PMID:19349279	PMID:19570982	PMID:19627254	PMID:19855011
PMID:19953087	PMID:20301299	PMID:20389311	PMID:20588308	PMID:21078624	PMID:21163940	PMID:21563328	PMID:21653829	PMID:22070778	PMID:22506683	PMID:22829427	PMID:22919265
PMID:23088713	PMID:23313295	PMID:23376485	PMID:23533145	PMID:23782690	PMID:24722188	PMID:24769233	PMID:24838734	PMID:24927181	PMID:25255451	PMID:25416956	PMID:25910212
PMID:26690653	PMID:26871637	PMID:27107014	PMID:27339457	PMID:28238906	PMID:28327460	PMID:29892012	PMID:30089695	PMID:30237579	PMID:31125616	PMID:32296183	PMID:32396873
PMID:32814053	PMID:35914814	PMID:35950373	PMID:36004647	PMID:36316642	PMID:36565192	PMID:37420173	PMID:38113391

Genomics

Comparative Map Data

EFEMP2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	65,866,441 - 65,872,800 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	65,866,441 - 65,873,592 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	65,633,912 - 65,640,271 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	65,390,488 - 65,396,852 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	65,390,494 - 65,396,793	NCBI
Celera	11	62,957,818 - 62,964,246 (-)	NCBI		Celera
Cytogenetic Map	11	q13.1	NCBI
HuRef	11	61,960,429 - 61,966,923 (-)	NCBI		HuRef
CHM1_1	11	65,518,326 - 65,524,819 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	11	65,860,912 - 65,867,272 (-)	NCBI		T2T-CHM13v2.0

Efemp2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	19	5,523,974 - 5,532,548 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	19	5,523,982 - 5,532,545 (+)	Ensembl		GRCm39 Ensembl
GRCm38	19	5,473,946 - 5,482,520 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	19	5,473,954 - 5,482,517 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	19	5,474,690 - 5,481,854 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	19	5,474,750 - 5,481,853 (+)	NCBI		MGSCv36	mm8
Celera	19	5,346,431 - 5,353,554 (+)	NCBI		Celera
Cytogenetic Map	19	A	NCBI
cM Map	19	4.33	NCBI

Efemp2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	212,211,057 - 212,218,739 (+)	NCBI		GRCr8
mRatBN7.2	1	202,781,692 - 202,789,784 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	202,781,665 - 202,789,414 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	211,134,675 - 211,141,697 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	218,227,788 - 218,234,806 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	210,918,833 - 210,925,850 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	220,853,695 - 220,861,420 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	220,854,403 - 220,861,420 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	227,783,038 - 227,790,741 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	208,118,537 - 208,125,490 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	208,271,989 - 208,278,942 (+)	NCBI
Celera	1	200,318,443 - 200,324,890 (+)	NCBI		Celera
Cytogenetic Map	1	q43	NCBI

Efemp2
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955422	19,463,987 - 19,470,605 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955422	19,463,090 - 19,470,605 (+)	NCBI	ChiLan1.0	ChiLan1.0

EFEMP2
(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	9	67,095,002 - 67,101,456 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	11	68,137,810 - 68,144,973 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	11	61,226,755 - 61,233,181 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	11	64,555,877 - 64,561,950 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	11	64,555,877 - 64,561,950 (-)	Ensembl	panpan1.1		panPan2

EFEMP2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	18	51,389,797 - 51,396,109 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	18	51,389,824 - 51,396,107 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	18	49,997,510 - 50,004,619 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	18	52,427,071 - 52,434,176 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	18	52,427,841 - 52,434,176 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	18	51,527,128 - 51,534,242 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	18	51,101,501 - 51,108,618 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	18	51,890,821 - 51,897,925 (+)	NCBI		UU_Cfam_GSD_1.0

Efemp2
(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_024404947	7,221,048 - 7,228,320 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936599	3,663,326 - 3,670,047 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936599	3,663,288 - 3,670,048 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

EFEMP2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	6,450,332 - 6,463,486 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	6,455,155 - 6,463,493 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	5,559,189 - 5,567,521 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

EFEMP2
(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	1	8,384,212 - 8,391,501 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	1	8,385,020 - 8,390,889 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666038	105,673,390 - 105,680,538 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Efemp2
(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_004624767	20,559,795 - 20,566,341 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624767	20,559,801 - 20,566,326 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in EFEMP2
465 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_016938.5(EFEMP2):c.307G>A (p.Ala103Thr)	single nucleotide variant	Cardiovascular phenotype [RCV004024216]\|Cutis laxa, autosomal recessive, type 1B [RCV000548827]	Chr11:65871217 [GRCh38] Chr11:65638688 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.253G>A (p.Ala85Thr)	single nucleotide variant	Cardiovascular phenotype [RCV002431686]\|Cutis laxa, autosomal recessive, type 1B [RCV000546981]	Chr11:65871271 [GRCh38] Chr11:65638742 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.110C>T (p.Thr37Met)	single nucleotide variant	Cardiovascular phenotype [RCV002431685]\|Cutis laxa, autosomal recessive, type 1B [RCV000524850]	Chr11:65872245 [GRCh38] Chr11:65639716 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1212G>A (p.Pro404=)	single nucleotide variant	Cardiovascular phenotype [RCV002358587]\|Cutis laxa, autosomal recessive, type 1B [RCV000528046]\|not provided [RCV001584324]\|not specified [RCV003323611]	Chr11:65867038 [GRCh38] Chr11:65634509 [GRCh37] Chr11:11q13.1	likely benign\|uncertain significance
NM_016938.5(EFEMP2):c.810A>G (p.Pro270=)	single nucleotide variant	Cardiovascular phenotype [RCV002420509]\|Cutis laxa, autosomal recessive, type 1B [RCV002060351]\|EFEMP2-related disorder [RCV003905432]\|not provided [RCV000543105]\|not specified [RCV003488688]	Chr11:65868547 [GRCh38] Chr11:65636018 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1095G>A (p.Ala365=)	single nucleotide variant	Cardiovascular phenotype [RCV002456219]\|Cutis laxa, autosomal recessive, type 1B [RCV000551111]\|EFEMP2-related disorder [RCV003945291]\|not provided [RCV001697002]\|not specified [RCV003403324]	Chr11:65867936 [GRCh38] Chr11:65635407 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.570G>A (p.Pro190=)	single nucleotide variant	Cardiovascular phenotype [RCV002350355]\|Cutis laxa, autosomal recessive, type 1B [RCV000529719]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003485603]	Chr11:65870158 [GRCh38] Chr11:65637629 [GRCh37] Chr11:11q13.1	benign\|likely benign
NM_016938.5(EFEMP2):c.800G>A (p.Cys267Tyr)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1A [RCV000032274]\|Cutis laxa, autosomal recessive, type 1B [RCV000023384]	Chr11:65868557 [GRCh38] Chr11:65636028 [GRCh37] Chr11:11q13.1	pathogenic\|not provided
NM_016938.5(EFEMP2):c.1189G>A (p.Ala397Thr)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1A [RCV000032266]\|Cutis laxa, autosomal recessive, type 1B [RCV000033128]	Chr11:65867061 [GRCh38] Chr11:65634532 [GRCh37] Chr11:11q13.1	pathogenic\|not provided
NM_016938.5(EFEMP2):c.1226G>A (p.Arg409Gln)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1A [RCV000032267]\|Cutis laxa, autosomal recessive, type 1B [RCV002513295]	Chr11:65867024 [GRCh38] Chr11:65634495 [GRCh37] Chr11:11q13.1	benign\|uncertain significance\|not provided
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1A [RCV000032269]\|Cutis laxa, autosomal recessive, type 1B [RCV000033125]\|not provided [RCV000724423]	Chr11:65870650 [GRCh38] Chr11:65638121 [GRCh37] Chr11:11q13.1	pathogenic\|likely pathogenic\|not provided
NM_016938.5(EFEMP2):c.377A>T (p.Glu126Val)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1A [RCV000032270]\|Cutis laxa, autosomal recessive, type 1B [RCV000033126]	Chr11:65870649 [GRCh38] Chr11:65638120 [GRCh37] Chr11:11q13.1	pathogenic\|not provided
NM_016938.5(EFEMP2):c.577del (p.Gln193fs)	deletion	Cutis laxa, autosomal recessive, type 1A [RCV000032271]\|Cutis laxa, autosomal recessive, type 1B [RCV000033127]	Chr11:65870151 [GRCh38] Chr11:65637622 [GRCh37] Chr11:11q13.1	pathogenic\|not provided
NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1A [RCV000032272]\|Cutis laxa, autosomal recessive, type 1B [RCV000034873]\|not provided [RCV003332092]	Chr11:65869976 [GRCh38] Chr11:65637447 [GRCh37] Chr11:11q13.1	pathogenic\|likely pathogenic\|not provided
NM_016938.5(EFEMP2):c.775A>G (p.Ile259Val)	single nucleotide variant	Cardiovascular phenotype [RCV002408489]\|Cutis laxa, autosomal recessive, type 1A [RCV000032273]\|Cutis laxa, autosomal recessive, type 1B [RCV000611919]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003485525]\|not provided [RCV000587912]\|not specified [RCV000155538]	Chr11:65868582 [GRCh38] Chr11:65636053 [GRCh37] Chr11:11q13.1	benign\|not provided
EFEMP2, 1-BP DEL, 577C	deletion	Autosomal recessive cutis laxa type 1B [RCV000033127]	Chr11:11q13	pathogenic
NM_016938.5(EFEMP2):c.679C>T (p.Arg227Cys)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000034874]	Chr11:65869905 [GRCh38] Chr11:65637376 [GRCh37] Chr11:11q13.1	pathogenic
NM_016938.5(EFEMP2):c.169G>A (p.Glu57Lys)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1A [RCV000032268]\|Cutis laxa, autosomal recessive, type 1B [RCV000005756]	Chr11:65871355 [GRCh38] Chr11:65638826 [GRCh37] Chr11:11q13.1	pathogenic\|not provided
NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1A [RCV000032275]\|Cutis laxa, autosomal recessive, type 1B [RCV000005757]	Chr11:65868522 [GRCh38] Chr11:65635993 [GRCh37] Chr11:11q13.1	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_016938.5(EFEMP2):c.1070_1073dup (p.Asp359fs)	duplication	Cutis laxa, autosomal recessive, type 1A [RCV000032265]\|Cutis laxa, autosomal recessive, type 1B [RCV000005758]	Chr11:65867957..65867958 [GRCh38] Chr11:65635428..65635429 [GRCh37] Chr11:11q13.1	pathogenic\|not provided
NM_016938.5(EFEMP2):c.490+23G>C	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000625038]\|not provided [RCV001613410]	Chr11:65870513 [GRCh38] Chr11:65637984 [GRCh37] Chr11:11q13.1	benign
NM_016938.5(EFEMP2):c.409A>T (p.Ser137Cys)	single nucleotide variant	Cardiovascular phenotype [RCV002324035]\|Cutis laxa, autosomal recessive, type 1B [RCV000542730]\|not provided [RCV004722913]	Chr11:65870617 [GRCh38] Chr11:65638088 [GRCh37] Chr11:11q13.1	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_016938.5(EFEMP2):c.279C>T (p.Gly93=)	single nucleotide variant	Cardiovascular phenotype [RCV004619338]\|Cutis laxa, autosomal recessive, type 1B [RCV000545484]	Chr11:65871245 [GRCh38] Chr11:65638716 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.160+8T>C	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000543648]	Chr11:65871962 [GRCh38] Chr11:65639433 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.422A>T (p.His141Leu)	single nucleotide variant	Cardiovascular phenotype [RCV002330952]\|Cutis laxa, autosomal recessive, type 1B [RCV000548233]\|not provided [RCV001788285]	Chr11:65870604 [GRCh38] Chr11:65638075 [GRCh37] Chr11:11q13.1	benign\|uncertain significance
NM_016938.5(EFEMP2):c.474C>T (p.Ile158=)	single nucleotide variant	Cardiovascular phenotype [RCV003159905]\|Cutis laxa, autosomal recessive, type 1B [RCV001000452]\|not provided [RCV000526646]	Chr11:65870552 [GRCh38] Chr11:65638023 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1170+1G>A	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001213650]	Chr11:65867860 [GRCh38] Chr11:65635331 [GRCh37] Chr11:11q13.1	uncertain significance
GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	copy number loss	See cases [RCV000142881]	Chr11:65741431..67705669 [GRCh38] Chr11:65508902..67473140 [GRCh37] Chr11:65265478..67229716 [NCBI36] Chr11:11q13.1-13.2	pathogenic
NM_016938.5(EFEMP2):c.276C>T (p.His92=)	single nucleotide variant	Cardiovascular phenotype [RCV002433648]\|Cutis laxa, autosomal recessive, type 1B [RCV000625315]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003485543]\|not provided [RCV000590770]\|not specified [RCV000150612]	Chr11:65871248 [GRCh38] Chr11:65871248..65871249 [GRCh38] Chr11:65638719 [GRCh37] Chr11:65638719..65638720 [GRCh37] Chr11:11q13.1	benign
NM_016938.5(EFEMP2):c.368-11G>A	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000320707]\|EFEMP2-related disorder [RCV003927514]\|not provided [RCV001711315]\|not specified [RCV000155539]	Chr11:65870669 [GRCh38] Chr11:65638140 [GRCh37] Chr11:11q13.1	benign\|likely benign\|uncertain significance
NM_016938.5(EFEMP2):c.608-2A>G	single nucleotide variant	not provided [RCV000519086]	Chr11:65869978 [GRCh38] Chr11:65637449 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1279_1289del (p.Arg427fs)	deletion	not provided [RCV000519163]	Chr11:65866961..65866971 [GRCh38] Chr11:65634432..65634442 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.460G>A (p.Gly154Ser)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003642914]\|not provided [RCV004792428]	Chr11:65870566 [GRCh38] Chr11:65638037 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.368-4G>A	single nucleotide variant	Cardiovascular phenotype [RCV002453758]\|Cutis laxa, autosomal recessive, type 1B [RCV000547436]\|not provided [RCV000589251]\|not specified [RCV000219848]	Chr11:65870662 [GRCh38] Chr11:65638133 [GRCh37] Chr11:11q13.1	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_016938.5(EFEMP2):c.1182C>T (p.Asn394=)	single nucleotide variant	Cardiovascular phenotype [RCV002341552]\|Cutis laxa, autosomal recessive, type 1B [RCV003767488]\|not specified [RCV000604701]	Chr11:65867068 [GRCh38] Chr11:65634539 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.396C>T (p.His132=)	single nucleotide variant	Cardiovascular phenotype [RCV002377154]\|Cutis laxa, autosomal recessive, type 1B [RCV000527848]\|not specified [RCV000610777]	Chr11:65870630 [GRCh38] Chr11:65638101 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.*282C>T	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000370364]\|not provided [RCV004693049]	Chr11:65866636 [GRCh38] Chr11:65634107 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.872C>T (p.Ala291Val)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000324082]\|not provided [RCV004786662]	Chr11:65868397 [GRCh38] Chr11:65635868 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=)	single nucleotide variant	Cardiovascular phenotype [RCV002446556]\|Cutis laxa, autosomal recessive, type 1B [RCV000625314]\|EFEMP2-related disorder [RCV003950026]\|not provided [RCV001707637]\|not specified [RCV004701402]	Chr11:65868384 [GRCh38] Chr11:65635855 [GRCh37] Chr11:11q13.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_016938.5(EFEMP2):c.977G>A (p.Arg326His)	single nucleotide variant	Cardiovascular phenotype [RCV002379175]\|Cutis laxa, autosomal recessive, type 1B [RCV001080329]\|not provided [RCV000658599]	Chr11:65868054 [GRCh38] Chr11:65635525 [GRCh37] Chr11:11q13.1	benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=)	single nucleotide variant	Cardiovascular phenotype [RCV002338879]\|Cutis laxa, autosomal recessive, type 1B [RCV000554306]\|EFEMP2-related disorder [RCV003957579]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003485575]\|not provided [RCV000589385]	Chr11:65867062 [GRCh38] Chr11:65634533 [GRCh37] Chr11:11q13.1	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_016938.5(EFEMP2):c.99C>T (p.Pro33=)	single nucleotide variant	Cardiovascular phenotype [RCV002379176]\|Cutis laxa, autosomal recessive, type 1B [RCV000873647]\|not specified [RCV003330638]	Chr11:65872256 [GRCh38] Chr11:65639727 [GRCh37] Chr11:11q13.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_016938.5(EFEMP2):c.161-6C>G	single nucleotide variant	Cardiovascular phenotype [RCV004021517]\|Cutis laxa, autosomal recessive, type 1B [RCV000281080]\|not provided [RCV003114475]	Chr11:65871369 [GRCh38] Chr11:65638840 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala)	single nucleotide variant	Cardiovascular phenotype [RCV002446555]\|Cutis laxa, autosomal recessive, type 1B [RCV001088860]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003485576]\|not provided [RCV000788132]\|not specified [RCV004701401]	Chr11:65868335 [GRCh38] Chr11:65635806 [GRCh37] Chr11:11q13.1	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_016938.5(EFEMP2):c.397G>A (p.Asp133Asn)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000265641]\|not provided [RCV000584857]	Chr11:65870629 [GRCh38] Chr11:65638100 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.*403C>G	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000395995]\|not provided [RCV004718478]	Chr11:65866515 [GRCh38] Chr11:65633986 [GRCh37] Chr11:11q13.1	benign\|uncertain significance
NM_016938.5(EFEMP2):c.-58G>A	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000508583]\|not provided [RCV001597058]	Chr11:65872733 [GRCh38] Chr11:65640204 [GRCh37] Chr11:11q13.1	benign
NM_016938.5(EFEMP2):c.*115G>A	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000312066]\|not provided [RCV001560637]	Chr11:65866803 [GRCh38] Chr11:65634274 [GRCh37] Chr11:11q13.1	likely benign\|uncertain significance
NM_016938.5(EFEMP2):c.*165dup	duplication	Cutis laxa, recessive [RCV000396180]	Chr11:65866752..65866753 [GRCh38] Chr11:65634223..65634224 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.161-10C>T	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001080297]\|not provided [RCV000840857]\|not specified [RCV003330637]	Chr11:65871373 [GRCh38] Chr11:65638844 [GRCh37] Chr11:11q13.1	benign\|likely benign\|uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	copy number gain	MISSED ABORTION [RCV002282973]	Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25	pathogenic
NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser)	single nucleotide variant	Cardiovascular phenotype [RCV002438189]\|Cutis laxa, autosomal recessive, type 1B [RCV000535424]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003485591]\|not provided [RCV000488325]\|not specified [RCV000616268]	Chr11:65871247 [GRCh38] Chr11:65638718 [GRCh37] Chr11:11q13.1	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_016938.4(EFEMP2):c.-181G>A	single nucleotide variant	Cutis laxa, recessive [RCV000347985]	Chr11:65872856 [GRCh38] Chr11:65640327 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.*3A>G	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000366776]	Chr11:65866915 [GRCh38] Chr11:65634386 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.-13G>A	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000351284]	Chr11:65872688 [GRCh38] Chr11:65640159 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.*305C>T	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000297011]	Chr11:65866613 [GRCh38] Chr11:65634084 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.160G>T (p.Asp54Tyr)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000372037]	Chr11:65871970 [GRCh38] Chr11:65639441 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.4(EFEMP2):c.-143_-140GGCG[4]	microsatellite	Cutis laxa, recessive [RCV000311766]	Chr11:65872804..65872805 [GRCh38] Chr11:65640275..65640276 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.4(EFEMP2):c.-229G>C	single nucleotide variant	Cutis laxa, recessive [RCV000396236]	Chr11:65872904 [GRCh38] Chr11:65640375 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.348C>T (p.Asp116=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001493928]\|not provided [RCV000537254]\|not specified [RCV003323613]	Chr11:65871176 [GRCh38] Chr11:65638647 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1111G>A (p.Gly371Ser)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000539556]	Chr11:65867920 [GRCh38] Chr11:65635391 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.346G>A (p.Asp116Asn)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000558794]\|not specified [RCV004525973]	Chr11:65871178 [GRCh38] Chr11:65638649 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.496G>A (p.Asp166Asn)	single nucleotide variant	Cardiovascular phenotype [RCV003372751]\|Cutis laxa, autosomal recessive, type 1B [RCV000541229]	Chr11:65870232 [GRCh38] Chr11:65637703 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.321C>A (p.Asn107Lys)	single nucleotide variant	Cardiovascular phenotype [RCV003372713]\|Cutis laxa, autosomal recessive, type 1B [RCV001851076]\|not provided [RCV000440253]	Chr11:65871203 [GRCh38] Chr11:65638674 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.368-18G>A	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002056656]\|not provided [RCV004705581]\|not specified [RCV000433367]	Chr11:65870676 [GRCh38] Chr11:65638147 [GRCh37] Chr11:11q13.1	benign\|likely benign
NM_016938.5(EFEMP2):c.258C>T (p.Ala86=)	single nucleotide variant	Cardiovascular phenotype [RCV002429448]\|Cutis laxa, autosomal recessive, type 1B [RCV000556972]\|not provided [RCV001698359]\|not specified [RCV003488593]	Chr11:65871266 [GRCh38] Chr11:65638737 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.139C>T (p.Pro47Ser)	single nucleotide variant	Cardiovascular phenotype [RCV002393037]\|Cutis laxa, autosomal recessive, type 1B [RCV001000039]\|EFEMP2-related disorder [RCV003902611]\|not provided [RCV000761780]\|not specified [RCV003401432]	Chr11:65871991 [GRCh38] Chr11:65639462 [GRCh37] Chr11:11q13.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NC_000011.10:g.65864502G>A	single nucleotide variant	not provided [RCV004718658]\|not specified [RCV000455007]	Chr11:65864502 [GRCh38] Chr11:65631973 [GRCh37] Chr11:11q13.1	benign
NC_000011.10:g.65864791G>T	single nucleotide variant	not provided [RCV004718659]\|not specified [RCV000455656]	Chr11:65864791 [GRCh38] Chr11:65632262 [GRCh37] Chr11:11q13.1	benign
NM_016938.5(EFEMP2):c.938A>T (p.Asn313Ile)	single nucleotide variant	not provided [RCV000485615]	Chr11:65868331 [GRCh38] Chr11:65635802 [GRCh37] Chr11:11q13.1	likely pathogenic
NM_016938.5(EFEMP2):c.990G>A (p.Pro330=)	single nucleotide variant	Cardiovascular phenotype [RCV004024217]\|Cutis laxa, autosomal recessive, type 1B [RCV000531562]\|not provided [RCV001556936]	Chr11:65868041 [GRCh38] Chr11:65635512 [GRCh37] Chr11:11q13.1	benign\|likely benign\|uncertain significance
NM_016938.5(EFEMP2):c.882C>T (p.Cys294=)	single nucleotide variant	Cardiovascular phenotype [RCV002376940]\|Cutis laxa, autosomal recessive, type 1B [RCV001499211]\|not specified [RCV000508306]	Chr11:65868387 [GRCh38] Chr11:65635858 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.490+9A>T	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001480905]\|not specified [RCV000505949]	Chr11:65870527 [GRCh38] Chr11:65637998 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.-113C>T	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000506816]\|not provided [RCV001778984]	Chr11:65872788 [GRCh38] Chr11:65640259 [GRCh37] Chr11:11q13.1	benign\|likely benign\|conflicting interpretations of pathogenicity
GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	copy number gain	See cases [RCV000511632]	Chr11:64501919..67129258 [GRCh37] Chr11:11q13.1-13.2	likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	copy number gain	See cases [RCV000511729]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	copy number gain	See cases [RCV000510881]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
NM_016938.5(EFEMP2):c.759C>G (p.Leu253=)	single nucleotide variant	Cardiovascular phenotype [RCV004619339]\|Cutis laxa, autosomal recessive, type 1B [RCV000554598]	Chr11:65868598 [GRCh38] Chr11:65636069 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.138C>T (p.Asp46=)	single nucleotide variant	Cardiovascular phenotype [RCV004024215]\|Cutis laxa, autosomal recessive, type 1B [RCV001081957]\|not provided [RCV000840856]\|not specified [RCV003330791]	Chr11:65871992 [GRCh38] Chr11:65639463 [GRCh37] Chr11:11q13.1	benign\|likely benign
NM_016938.5(EFEMP2):c.738G>A (p.Glu246=)	single nucleotide variant	Cardiovascular phenotype [RCV002384231]\|Cutis laxa, autosomal recessive, type 1B [RCV000539989]\|EFEMP2-related disorder [RCV003952836]\|not provided [RCV001697378]\|not specified [RCV003330792]	Chr11:65868619 [GRCh38] Chr11:65636090 [GRCh37] Chr11:11q13.1	benign\|likely benign
NM_016938.5(EFEMP2):c.27C>G (p.Pro9=)	single nucleotide variant	Cardiovascular phenotype [RCV002438468]\|Cutis laxa, autosomal recessive, type 1B [RCV001001742]\|not provided [RCV001580012]\|not specified [RCV003323612]	Chr11:65872328 [GRCh38] Chr11:65639799 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.728-3C>T	single nucleotide variant	Cardiovascular phenotype [RCV002384320]\|Cutis laxa, autosomal recessive, type 1B [RCV000649948]\|EFEMP2-related disorder [RCV003927964]\|not provided [RCV001712623]	Chr11:65868632 [GRCh38] Chr11:65636103 [GRCh37] Chr11:11q13.1	likely benign\|uncertain significance
NM_016938.5(EFEMP2):c.726T>G (p.Ser242Arg)	single nucleotide variant	Cardiovascular phenotype [RCV003306009]	Chr11:65869858 [GRCh38] Chr11:65637329 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1211C>G (p.Pro404Arg)	single nucleotide variant	Cardiovascular phenotype [RCV003306010]	Chr11:65867039 [GRCh38] Chr11:65634510 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1043T>A (p.Met348Lys)	single nucleotide variant	Cardiovascular phenotype [RCV003306011]	Chr11:65867988 [GRCh38] Chr11:65635459 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.585G>A (p.Gly195=)	single nucleotide variant	Cardiovascular phenotype [RCV003306012]	Chr11:65870143 [GRCh38] Chr11:65637614 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.180C>A (p.Thr60=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000532099]	Chr11:65871344 [GRCh38] Chr11:65638815 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.151C>T (p.His51Tyr)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000533588]\|EFEMP2-related disorder [RCV003403325]	Chr11:65871979 [GRCh38] Chr11:65639450 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.506G>A (p.Arg169His)	single nucleotide variant	Cardiovascular phenotype [RCV002341433]\|Cutis laxa, autosomal recessive, type 1B [RCV000556089]\|EFEMP2-related disorder [RCV003980005]\|not provided [RCV001591263]\|not specified [RCV004767376]	Chr11:65870222 [GRCh38] Chr11:65637693 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.267C>T (p.Asn89=)	single nucleotide variant	Cardiovascular phenotype [RCV002431776]\|Cutis laxa, autosomal recessive, type 1B [RCV001467978]\|not provided [RCV001707777]	Chr11:65871257 [GRCh38] Chr11:65638728 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.783G>A (p.Glu261=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000533060]	Chr11:65868574 [GRCh38] Chr11:65636045 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.595C>T (p.Arg199Cys)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000649942]	Chr11:65870133 [GRCh38] Chr11:65637604 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1110dup (p.Gly371fs)	duplication	Cutis laxa, autosomal recessive, type 1B [RCV000649943]	Chr11:65867920..65867921 [GRCh38] Chr11:65635391..65635392 [GRCh37] Chr11:11q13.1	likely pathogenic
NM_016938.5(EFEMP2):c.338A>G (p.Tyr113Cys)	single nucleotide variant	Cardiovascular phenotype [RCV004619365]\|Cutis laxa, autosomal recessive, type 1B [RCV000649944]	Chr11:65871186 [GRCh38] Chr11:65638657 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1105T>C (p.Tyr369His)	single nucleotide variant	Cardiovascular phenotype [RCV004619366]\|Cutis laxa, autosomal recessive, type 1B [RCV000649945]	Chr11:65867926 [GRCh38] Chr11:65635397 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1207C>A (p.Arg403=)	single nucleotide variant	Cardiovascular phenotype [RCV003162975]\|Cutis laxa, autosomal recessive, type 1B [RCV000649946]\|EFEMP2-related disorder [RCV004751646]\|not provided [RCV000842557]	Chr11:65867043 [GRCh38] Chr11:65634514 [GRCh37] Chr11:11q13.1	likely benign\|uncertain significance
NM_016938.5(EFEMP2):c.1183G>A (p.Val395Ile)	single nucleotide variant	Cardiovascular phenotype [RCV002334188]\|Cutis laxa, autosomal recessive, type 1B [RCV000649947]	Chr11:65867067 [GRCh38] Chr11:65634538 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.862G>C (p.Glu288Gln)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000649949]	Chr11:65868407 [GRCh38] Chr11:65635878 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.34C>T (p.Leu12=)	single nucleotide variant	Cardiovascular phenotype [RCV002458126]\|Cutis laxa, autosomal recessive, type 1B [RCV000649951]	Chr11:65872321 [GRCh38] Chr11:65639792 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.498C>T (p.Asp166=)	single nucleotide variant	Cardiovascular phenotype [RCV002334189]\|Cutis laxa, autosomal recessive, type 1B [RCV000649952]	Chr11:65870230 [GRCh38] Chr11:65637701 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.912T>C (p.His304=)	single nucleotide variant	Cardiovascular phenotype [RCV002369745]\|Cutis laxa, autosomal recessive, type 1B [RCV000649953]	Chr11:65868357 [GRCh38] Chr11:65635828 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.741T>C (p.Cys247=)	single nucleotide variant	Cardiovascular phenotype [RCV002386103]\|Cutis laxa, autosomal recessive, type 1B [RCV002531946]	Chr11:65868616 [GRCh38] Chr11:65636087 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1101C>T (p.Ser367=)	single nucleotide variant	Cardiovascular phenotype [RCV002424516]\|Cutis laxa, autosomal recessive, type 1B [RCV000649955]\|not specified [RCV003330865]	Chr11:65867930 [GRCh38] Chr11:65635401 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.852T>A (p.Ile284=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000649956]	Chr11:65868417 [GRCh38] Chr11:65635888 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.186T>C (p.Pro62=)	single nucleotide variant	Cardiovascular phenotype [RCV002406456]\|Cutis laxa, autosomal recessive, type 1B [RCV000649957]	Chr11:65871338 [GRCh38] Chr11:65638809 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.290C>T (p.Pro97Leu)	single nucleotide variant	Cardiovascular phenotype [RCV002438469]\|Cutis laxa, autosomal recessive, type 1B [RCV000533911]\|not provided [RCV004696944]	Chr11:65871234 [GRCh38] Chr11:65638705 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.727+11C>T	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002064259]\|not specified [RCV000611655]	Chr11:65869846 [GRCh38] Chr11:65637317 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1016A>T (p.Gln339Leu)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000536337]\|not provided [RCV001764598]\|not specified [RCV003155232]	Chr11:65868015 [GRCh38] Chr11:65635486 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.927C>T (p.Cys309=)	single nucleotide variant	Cardiovascular phenotype [RCV002377246]\|Cutis laxa, autosomal recessive, type 1B [RCV002498898]\|not specified [RCV000604334]	Chr11:65868342 [GRCh38] Chr11:65635813 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.608-1G>C	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000698216]	Chr11:65869977 [GRCh38] Chr11:65637448 [GRCh37] Chr11:11q13.1	pathogenic\|likely pathogenic
NM_016938.5(EFEMP2):c.348C>A (p.Asp116Glu)	single nucleotide variant	Cardiovascular phenotype [RCV002458323]\|Cutis laxa, autosomal recessive, type 1B [RCV000707063]\|EFEMP2-related disorder [RCV004751672]\|not provided [RCV000761779]\|not specified [RCV003330914]	Chr11:65871176 [GRCh38] Chr11:65638647 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.579G>C (p.Gln193His)	single nucleotide variant	Cardiovascular phenotype [RCV002352220]\|Cutis laxa, autosomal recessive, type 1B [RCV000707215]	Chr11:65870149 [GRCh38] Chr11:65637620 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1234G>C (p.Val412Leu)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000704951]	Chr11:65867016 [GRCh38] Chr11:65634487 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.167A>G (p.Asn56Ser)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000707534]	Chr11:65871357 [GRCh38] Chr11:65638828 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1283C>T (p.Ala428Val)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000705800]	Chr11:65866967 [GRCh38] Chr11:65634438 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1234G>T (p.Val412Leu)	single nucleotide variant	Cardiovascular phenotype [RCV002360718]\|Cutis laxa, autosomal recessive, type 1B [RCV000686408]\|EFEMP2-related disorder [RCV004751662]	Chr11:65867016 [GRCh38] Chr11:65634487 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1211C>T (p.Pro404Leu)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000689043]	Chr11:65867039 [GRCh38] Chr11:65634510 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.242T>C (p.Leu81Pro)	single nucleotide variant	not provided [RCV000723038]	Chr11:65871282 [GRCh38] Chr11:65638753 [GRCh37] Chr11:11q13.1	uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3	copy number gain	not provided [RCV000737348]	Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3	copy number gain	not provided [RCV000749874]	Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
NM_016938.5(EFEMP2):c.975-32C>T	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001661270]\|not provided [RCV001724379]	Chr11:65868088 [GRCh38] Chr11:65635559 [GRCh37] Chr11:11q13.1	benign
NM_016938.5(EFEMP2):c.160+121C>G	single nucleotide variant	not provided [RCV001545108]	Chr11:65871849 [GRCh38] Chr11:65639320 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.809C>T (p.Pro270Leu)	single nucleotide variant	not provided [RCV003239102]	Chr11:65868548 [GRCh38] Chr11:65636019 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.974+7C>T	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001461358]	Chr11:65868288 [GRCh38] Chr11:65635759 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1056G>A (p.Ser352=)	single nucleotide variant	Cardiovascular phenotype [RCV002400027]\|Cutis laxa, autosomal recessive, type 1B [RCV001481383]	Chr11:65867975 [GRCh38] Chr11:65635446 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.616G>A (p.Glu206Lys)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001062364]	Chr11:65869968 [GRCh38] Chr11:65637439 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.541C>T (p.Pro181Ser)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001041612]	Chr11:65870187 [GRCh38] Chr11:65637658 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.146G>C (p.Ser49Thr)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001059289]\|not specified [RCV004768834]	Chr11:65871984 [GRCh38] Chr11:65639455 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.677G>A (p.Cys226Tyr)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001059902]	Chr11:65869907 [GRCh38] Chr11:65637378 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.628G>A (p.Gly210Arg)	single nucleotide variant	Cardiovascular phenotype [RCV002363571]\|Cutis laxa, autosomal recessive, type 1B [RCV001040280]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003485677]\|not provided [RCV001565379]	Chr11:65869956 [GRCh38] Chr11:65637427 [GRCh37] Chr11:11q13.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_016938.5(EFEMP2):c.286C>T (p.Pro96Ser)	single nucleotide variant	Cardiovascular phenotype [RCV002436627]\|Cutis laxa, autosomal recessive, type 1B [RCV001057858]	Chr11:65871238 [GRCh38] Chr11:65638709 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.491-5C>G	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001060991]	Chr11:65870242 [GRCh38] Chr11:65637713 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.651C>T (p.Cys217=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003642933]	Chr11:65869933 [GRCh38] Chr11:65637404 [GRCh37] Chr11:11q13.1	likely benign
GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	copy number gain	not provided [RCV000767601]	Chr11:65138976..67574402 [GRCh37] Chr11:11q13.1-13.2	pathogenic
NM_016938.5(EFEMP2):c.363T>C (p.Cys121=)	single nucleotide variant	Cardiovascular phenotype [RCV002454026]\|Cutis laxa, autosomal recessive, type 1B [RCV000873604]\|not provided [RCV001566019]\|not specified [RCV004689911]	Chr11:65871161 [GRCh38] Chr11:65638632 [GRCh37] Chr11:11q13.1	likely benign\|conflicting interpretations of pathogenicity
NM_016938.5(EFEMP2):c.12C>T (p.Cys4=)	single nucleotide variant	Cardiovascular phenotype [RCV004028975]\|Cutis laxa, autosomal recessive, type 1B [RCV000909967]	Chr11:65872343 [GRCh38] Chr11:65639814 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.315C>T (p.His105=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001446158]	Chr11:65871209 [GRCh38] Chr11:65638680 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.554G>A (p.Arg185His)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000801175]\|not provided [RCV001766659]	Chr11:65870174 [GRCh38] Chr11:65637645 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1170+17C>T	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002064391]\|not provided [RCV000842318]	Chr11:65867844 [GRCh38] Chr11:65635315 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.236T>G (p.Leu79Trp)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000805109]	Chr11:65871288 [GRCh38] Chr11:65638759 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.280G>A (p.Glu94Lys)	single nucleotide variant	Cardiovascular phenotype [RCV002440696]\|Cutis laxa, autosomal recessive, type 1B [RCV000803615]\|not provided [RCV002473144]	Chr11:65871244 [GRCh38] Chr11:65638715 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.727+252A>G	single nucleotide variant	not provided [RCV000843651]	Chr11:65869605 [GRCh38] Chr11:65869605..65869606 [GRCh38] Chr11:65637076 [GRCh37] Chr11:65637076..65637077 [GRCh37] Chr11:11q13.1	benign
NM_016938.5(EFEMP2):c.349G>A (p.Asp117Asn)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000791919]	Chr11:65871175 [GRCh38] Chr11:65638646 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1065C>A (p.Ser355Arg)	single nucleotide variant	Cardiovascular phenotype [RCV002408987]\|Cutis laxa, autosomal recessive, type 1B [RCV000822139]\|EFEMP2-related disorder [RCV004751743]\|not provided [RCV001562665]	Chr11:65867966 [GRCh38] Chr11:65635437 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.491-28_491-22del	microsatellite	not provided [RCV000839231]	Chr11:65870259..65870265 [GRCh38] Chr11:65637730..65637736 [GRCh37] Chr11:11q13.1	benign
NM_016938.5(EFEMP2):c.273A>G (p.Leu91=)	single nucleotide variant	Cardiovascular phenotype [RCV002434038]\|Cutis laxa, autosomal recessive, type 1B [RCV001424215]\|EFEMP2-related disorder [RCV003892760]\|not provided [RCV000827545]\|not specified [RCV003987716]	Chr11:65871251 [GRCh38] Chr11:65638722 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.111+81G>A	single nucleotide variant	not provided [RCV000838291]	Chr11:65872163 [GRCh38] Chr11:65639634 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.974+47G>A	single nucleotide variant	not provided [RCV000838326]	Chr11:65868248 [GRCh38] Chr11:65635719 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1174del (p.Ile392fs)	deletion	Cutis laxa, autosomal recessive, type 1B [RCV000805837]	Chr11:65867076 [GRCh38] Chr11:65634547 [GRCh37] Chr11:11q13.1	uncertain significance
NC_000011.9:g.(?_65633902)_(66115026_?)dup	duplication	Cutis laxa, autosomal recessive, type 1B [RCV000798155]	Chr11:65866431..66347555 [GRCh38] Chr11:65633902..66115026 [GRCh37] Chr11:11q13.1-13.2	uncertain significance
NC_000011.10:g.65871373G>A	single nucleotide variant	not provided [RCV000840857]	Chr11:65638844 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.505C>T (p.Arg169Cys)	single nucleotide variant	Cardiovascular phenotype [RCV002339221]\|Cutis laxa, autosomal recessive, type 1B [RCV001044317]	Chr11:65870223 [GRCh38] Chr11:65637694 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.946G>T (p.Val316Leu)	single nucleotide variant	Cardiovascular phenotype [RCV002370184]\|Cutis laxa, autosomal recessive, type 1B [RCV000811980]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003485648]\|not specified [RCV004768678]	Chr11:65868323 [GRCh38] Chr11:65635794 [GRCh37] Chr11:11q13.1	benign\|likely benign\|uncertain significance
GRCh37/hg19 11q13.1(chr11:65529506-65649002)x3	copy number gain	not provided [RCV000846037]	Chr11:65529506..65649002 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.259G>A (p.Val87Ile)	single nucleotide variant	Cardiovascular phenotype [RCV002424870]\|Cutis laxa, autosomal recessive, type 1B [RCV000805082]\|not provided [RCV001592999]\|not specified [RCV004702435]	Chr11:65871265 [GRCh38] Chr11:65638736 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.756C>T (p.Tyr252=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003768608]\|not provided [RCV000842540]	Chr11:65868601 [GRCh38] Chr11:65636072 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.941G>A (p.Arg314His)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001068454]	Chr11:65868328 [GRCh38] Chr11:65635799 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.481G>A (p.Glu161Lys)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001169986]\|Familial aortopathy [RCV004800708]\|not provided [RCV004813826]	Chr11:65870545 [GRCh38] Chr11:65638016 [GRCh37] Chr11:11q13.1	pathogenic\|likely pathogenic
NM_016938.5(EFEMP2):c.109_111+3del	deletion	Cutis laxa, autosomal recessive, type 1B [RCV001212965]	Chr11:65872241..65872246 [GRCh38] Chr11:65639712..65639717 [GRCh37] Chr11:11q13.1	likely pathogenic
NM_016938.5(EFEMP2):c.861T>A (p.Cys287Ter)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001206195]	Chr11:65868408 [GRCh38] Chr11:65635879 [GRCh37] Chr11:11q13.1	pathogenic
NM_016938.5(EFEMP2):c.1279C>T (p.Arg427Trp)	single nucleotide variant	Cardiovascular phenotype [RCV002379835]\|Cutis laxa, autosomal recessive, type 1B [RCV001221280]	Chr11:65866971 [GRCh38] Chr11:65634442 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.17C>T (p.Ser6Phe)	single nucleotide variant	not provided [RCV004784517]	Chr11:65872338 [GRCh38] Chr11:65639809 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.874C>T (p.His292Tyr)	single nucleotide variant	Cardiovascular phenotype [RCV003380848]\|Cutis laxa, autosomal recessive, type 1B [RCV001106761]	Chr11:65868395 [GRCh38] Chr11:65635866 [GRCh37] Chr11:11q13.1	likely benign\|uncertain significance
NM_016938.5(EFEMP2):c.-10C>T	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001103771]	Chr11:65872685 [GRCh38] Chr11:65640156 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.728-201A>G	single nucleotide variant	not provided [RCV001665035]	Chr11:65868830 [GRCh38] Chr11:65636301 [GRCh37] Chr11:11q13.1	benign
NC_000011.9:g.(?_64973914)_(70052579_?)dup	duplication	Aicardi-Goutieres syndrome 3 [RCV003113322]\|FADD-related immunodeficiency [RCV003107753]	Chr11:64973914..70052579 [GRCh37] Chr11:11q13.1-13.3	uncertain significance
NM_016938.5(EFEMP2):c.490+30C>T	single nucleotide variant	not provided [RCV001577776]	Chr11:65870506 [GRCh38] Chr11:65637977 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.367+44C>G	single nucleotide variant	not provided [RCV001549375]	Chr11:65871113 [GRCh38] Chr11:65638584 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.161-13C>A	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003771699]\|not provided [RCV001555039]	Chr11:65871376 [GRCh38] Chr11:65638847 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.161-31C>T	single nucleotide variant	not provided [RCV001550715]	Chr11:65871394 [GRCh38] Chr11:65638865 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.161-138A>C	single nucleotide variant	not provided [RCV001559054]	Chr11:65871501 [GRCh38] Chr11:65638972 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.160+67G>A	single nucleotide variant	not provided [RCV001541472]	Chr11:65871903 [GRCh38] Chr11:65639374 [GRCh37] Chr11:11q13.1	benign
NM_016938.5(EFEMP2):c.607+10G>T	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001426499]	Chr11:65870111 [GRCh38] Chr11:65637582 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.570G>T (p.Pro190=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001484300]	Chr11:65870158 [GRCh38] Chr11:65637629 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.768C>T (p.Tyr256=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000938334]	Chr11:65868589 [GRCh38] Chr11:65636060 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1110C>T (p.Pro370=)	single nucleotide variant	Cardiovascular phenotype [RCV004029508]\|Cutis laxa, autosomal recessive, type 1B [RCV001471982]\|not provided [RCV000925861]	Chr11:65867921 [GRCh38] Chr11:65635392 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.531C>T (p.Cys177=)	single nucleotide variant	Cardiovascular phenotype [RCV004619465]\|Cutis laxa, autosomal recessive, type 1B [RCV002066336]	Chr11:65870197 [GRCh38] Chr11:65637668 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.534G>C (p.Val178=)	single nucleotide variant	not provided [RCV000923995]	Chr11:65870194 [GRCh38] Chr11:65637665 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.864G>A (p.Glu288=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV000932068]	Chr11:65868405 [GRCh38] Chr11:65635876 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.375C>T (p.Asp125=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002541548]	Chr11:65870651 [GRCh38] Chr11:65638122 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.*182A>G	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001105624]	Chr11:65866736 [GRCh38] Chr11:65634207 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.836G>A (p.Arg279His)	single nucleotide variant	Cardiovascular phenotype [RCV002436594]\|Cutis laxa, autosomal recessive, type 1B [RCV001049004]	Chr11:65868521 [GRCh38] Chr11:65635992 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.851T>C (p.Ile284Thr)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001207735]	Chr11:65868418 [GRCh38] Chr11:65635889 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.433G>A (p.Gly145Ser)	single nucleotide variant	Cardiovascular phenotype [RCV002327591]\|Cutis laxa, autosomal recessive, type 1B [RCV001244071]\|not provided [RCV001732090]\|not specified [RCV004699230]	Chr11:65870593 [GRCh38] Chr11:65638064 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.209A>G (p.Lys70Arg)	single nucleotide variant	Cardiovascular phenotype [RCV004031436]\|Cutis laxa, autosomal recessive, type 1B [RCV001046340]	Chr11:65871315 [GRCh38] Chr11:65638786 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.939C>T (p.Asn313=)	single nucleotide variant	Cardiovascular phenotype [RCV002370222]\|Cutis laxa, autosomal recessive, type 1B [RCV003771761]\|not provided [RCV001579401]	Chr11:65868330 [GRCh38] Chr11:65635801 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.*20C>T	single nucleotide variant	not provided [RCV001557959]	Chr11:65866898 [GRCh38] Chr11:65634369 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.-8+118C>T	single nucleotide variant	not provided [RCV001558292]	Chr11:65872565 [GRCh38] Chr11:65640036 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.975-25G>T	single nucleotide variant	not provided [RCV001596569]	Chr11:65868081 [GRCh38] Chr11:65635552 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.639C>T (p.Cys213=)	single nucleotide variant	Cardiovascular phenotype [RCV002365800]\|Cutis laxa, autosomal recessive, type 1B [RCV001106762]	Chr11:65869945 [GRCh38] Chr11:65637416 [GRCh37] Chr11:11q13.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_016938.5(EFEMP2):c.268G>A (p.Asp90Asn)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001067055]	Chr11:65871256 [GRCh38] Chr11:65638727 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1170+235_1170+236insC	insertion	not provided [RCV001667400]	Chr11:65867625..65867626 [GRCh38] Chr11:65635096..65635097 [GRCh37] Chr11:11q13.1	benign
NM_016938.5(EFEMP2):c.19T>G (p.Cys7Gly)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001059899]	Chr11:65872336 [GRCh38] Chr11:65639807 [GRCh37] Chr11:11q13.1	uncertain significance
NC_000011.10:g.(?_65871960)_(65872944_?)del	deletion	Cutis laxa, autosomal recessive, type 1B [RCV001032644]	Chr11:65639431..65640415 [GRCh37] Chr11:11q13.1	pathogenic
NM_016938.5(EFEMP2):c.1170+3A>G	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001054054]	Chr11:65867858 [GRCh38] Chr11:65635329 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1061G>A (p.Arg354Gln)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001040042]	Chr11:65867970 [GRCh38] Chr11:65635441 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.499G>T (p.Glu167Ter)	single nucleotide variant	Cardiovascular phenotype [RCV002339579]\|Cutis laxa, autosomal recessive, type 1B [RCV001219308]	Chr11:65870229 [GRCh38] Chr11:65637700 [GRCh37] Chr11:11q13.1	pathogenic
NM_016938.5(EFEMP2):c.*174G>A	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001105625]	Chr11:65866744 [GRCh38] Chr11:65634215 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1311T>G (p.Phe437Leu)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001027781]	Chr11:65866939 [GRCh38] Chr11:65634410 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.905A>G (p.Asn302Ser)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001050684]	Chr11:65868364 [GRCh38] Chr11:65635835 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.*247A>C	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001103672]	Chr11:65866671 [GRCh38] Chr11:65634142 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.321C>T (p.Asn107=)	single nucleotide variant	Cardiovascular phenotype [RCV002320365]\|Cutis laxa, autosomal recessive, type 1B [RCV001108920]\|not provided [RCV001585983]	Chr11:65871203 [GRCh38] Chr11:65638674 [GRCh37] Chr11:11q13.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_016938.5(EFEMP2):c.63C>T (p.Leu21=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001103770]	Chr11:65872292 [GRCh38] Chr11:65639763 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.975-15C>T	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002573250]\|not provided [RCV001579555]	Chr11:65868071 [GRCh38] Chr11:65635542 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.769C>T (p.Arg257Cys)	single nucleotide variant	Cardiovascular phenotype [RCV002400412]\|not provided [RCV002280384]	Chr11:65868588 [GRCh38] Chr11:65636059 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.379T>C (p.Cys127Arg)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001261982]	Chr11:65870647 [GRCh38] Chr11:65638118 [GRCh37] Chr11:11q13.1	pathogenic\|likely pathogenic
NM_016938.5(EFEMP2):c.1171-320G>A	single nucleotide variant	not provided [RCV001549401]	Chr11:65867399 [GRCh38] Chr11:65634870 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.774_776delinsTGC (p.Ile259Ala)	indel	Cutis laxa, autosomal recessive, type 1B [RCV001307766]	Chr11:65868581..65868583 [GRCh38] Chr11:65636052..65636054 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.7C>A (p.Pro3Thr)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001318511]	Chr11:65872348 [GRCh38] Chr11:65639819 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.527G>A (p.Arg176His)	single nucleotide variant	Cardiovascular phenotype [RCV003166769]\|Cutis laxa, autosomal recessive, type 1B [RCV001309486]	Chr11:65870201 [GRCh38] Chr11:65637672 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1156G>C (p.Asp386His)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001304170]	Chr11:65867875 [GRCh38] Chr11:65635346 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1110C>A (p.Pro370=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001349671]	Chr11:65867921 [GRCh38] Chr11:65635392 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.475G>A (p.Gly159Arg)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001304702]	Chr11:65870551 [GRCh38] Chr11:65638022 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.855T>C (p.Asp285=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001433865]	Chr11:65868414 [GRCh38] Chr11:65635885 [GRCh37] Chr11:11q13.1	likely benign
NC_000011.9:g.(?_59596957)_(68707199_?)dup	duplication	Familial temporal lobe epilepsy 8 [RCV001372442]	Chr11:59596957..68707199 [GRCh37] Chr11:11q12.1-13.3	uncertain significance
NM_016938.5(EFEMP2):c.437_439del (p.Ser146del)	deletion	Cutis laxa, autosomal recessive, type 1B [RCV001369185]	Chr11:65870587..65870589 [GRCh38] Chr11:65638058..65638060 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.919_952dup (p.Pro318fs)	duplication	Cutis laxa, autosomal recessive, type 1B [RCV001382781]	Chr11:65868316..65868317 [GRCh38] Chr11:65635787..65635788 [GRCh37] Chr11:11q13.1	pathogenic
NM_016938.5(EFEMP2):c.183C>T (p.Ile61=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001433766]	Chr11:65871341 [GRCh38] Chr11:65638812 [GRCh37] Chr11:11q13.1	likely benign
NC_000011.9:g.(?_65633902)_(66115026_?)dup	duplication	Autosomal recessive cutis laxa type 1B [RCV001305354]	Chr11:65633902..66115026 [GRCh37] Chr11:11q13.1-13.2	uncertain significance
NM_016938.5(EFEMP2):c.158G>A (p.Arg53Gln)	single nucleotide variant	Cardiovascular phenotype [RCV002404868]\|Cutis laxa, autosomal recessive, type 1B [RCV001364801]	Chr11:65871972 [GRCh38] Chr11:65639443 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1037G>A (p.Arg346His)	single nucleotide variant	Cardiovascular phenotype [RCV002395759]\|Cutis laxa, autosomal recessive, type 1B [RCV001345848]	Chr11:65867994 [GRCh38] Chr11:65635465 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1220G>T (p.Gly407Val)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001315810]	Chr11:65867030 [GRCh38] Chr11:65634501 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.922C>T (p.Arg308Cys)	single nucleotide variant	Cardiovascular phenotype [RCV004619655]\|Cutis laxa, autosomal recessive, type 1B [RCV001345982]\|not provided [RCV001586138]	Chr11:65868347 [GRCh38] Chr11:65635818 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1306G>A (p.Val436Ile)	single nucleotide variant	Cardiovascular phenotype [RCV002384419]\|Cutis laxa, autosomal recessive, type 1B [RCV001322068]	Chr11:65866944 [GRCh38] Chr11:65634415 [GRCh37] Chr11:11q13.1	uncertain significance
Single allele	deletion	Intellectual disability [RCV001293382]	Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3	pathogenic
NM_016938.5(EFEMP2):c.989C>T (p.Pro330Leu)	single nucleotide variant	Cardiovascular phenotype [RCV003166837]\|Cutis laxa, autosomal recessive, type 1B [RCV001317988]	Chr11:65868042 [GRCh38] Chr11:65635513 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.296C>T (p.Pro99Leu)	single nucleotide variant	Cardiovascular phenotype [RCV004036692]\|Cutis laxa, autosomal recessive, type 1B [RCV001352558]	Chr11:65871228 [GRCh38] Chr11:65638699 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.928G>A (p.Val310Met)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001345592]	Chr11:65868341 [GRCh38] Chr11:65635812 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.248G>A (p.Arg83His)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001339643]	Chr11:65871276 [GRCh38] Chr11:65638747 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.215T>C (p.Ile72Thr)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001296107]	Chr11:65871309 [GRCh38] Chr11:65638780 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.557G>C (p.Cys186Ser)	single nucleotide variant	Cardiovascular phenotype [RCV003169593]\|Cutis laxa, autosomal recessive, type 1B [RCV001338326]	Chr11:65870171 [GRCh38] Chr11:65637642 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.164T>A (p.Val55Asp)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001361087]	Chr11:65871360 [GRCh38] Chr11:65638831 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.96G>T (p.Glu32Asp)	single nucleotide variant	Cardiovascular phenotype [RCV002375395]\|Cutis laxa, autosomal recessive, type 1B [RCV001313543]	Chr11:65872259 [GRCh38] Chr11:65639730 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.52C>T (p.Leu18=)	single nucleotide variant	not provided [RCV001310606]	Chr11:65872303 [GRCh38] Chr11:65639774 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1217C>T (p.Thr406Met)	single nucleotide variant	Cardiovascular phenotype [RCV004619627]\|Cutis laxa, autosomal recessive, type 1B [RCV001317566]\|not specified [RCV004770044]	Chr11:65867033 [GRCh38] Chr11:65634504 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.872C>G (p.Ala291Gly)	single nucleotide variant	Cardiovascular phenotype [RCV003169848]\|Cutis laxa, autosomal recessive, type 1B [RCV001365943]	Chr11:65868397 [GRCh38] Chr11:65635868 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.6C>A (p.Leu2=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001486887]	Chr11:65872349 [GRCh38] Chr11:65639820 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1203C>T (p.Leu401=)	single nucleotide variant	Cardiovascular phenotype [RCV002350964]\|Cutis laxa, autosomal recessive, type 1B [RCV001471000]\|not provided [RCV001547159]	Chr11:65867047 [GRCh38] Chr11:65634518 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.714C>T (p.Gly238=)	single nucleotide variant	Cardiovascular phenotype [RCV002368548]\|Cutis laxa, autosomal recessive, type 1B [RCV001518831]\|EFEMP2-related disorder [RCV003931113]\|not provided [RCV004718864]\|not specified [RCV003323896]	Chr11:65869870 [GRCh38] Chr11:65637341 [GRCh37] Chr11:11q13.1	benign\|likely benign
NM_016938.5(EFEMP2):c.657C>T (p.Asn219=)	single nucleotide variant	Cardiovascular phenotype [RCV002368425]\|Cutis laxa, autosomal recessive, type 1B [RCV001464507]	Chr11:65869927 [GRCh38] Chr11:65637398 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.774_775inv (p.Ile259Val)	inversion	Cutis laxa, autosomal recessive, type 1B [RCV001409631]	Chr11:65868582..65868583 [GRCh38] Chr11:65636053..65636054 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.231C>T (p.Gly77=)	single nucleotide variant	Cardiovascular phenotype [RCV002456729]\|Cutis laxa, autosomal recessive, type 1B [RCV001439875]	Chr11:65871293 [GRCh38] Chr11:65638764 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.258C>G (p.Ala86=)	single nucleotide variant	Cardiovascular phenotype [RCV002456631]\|Cutis laxa, autosomal recessive, type 1B [RCV001399726]	Chr11:65871266 [GRCh38] Chr11:65638737 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.112-4C>A	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001425575]	Chr11:65872022 [GRCh38] Chr11:65639493 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.490+8C>T	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001408394]	Chr11:65870528 [GRCh38] Chr11:65637999 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.727+324TCT[2]	microsatellite	not provided [RCV001538140]	Chr11:65869525..65869527 [GRCh38] Chr11:65636996..65636998 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.491-65C>T	single nucleotide variant	not provided [RCV001591565]	Chr11:65870302 [GRCh38] Chr11:65637773 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.727+55T>C	single nucleotide variant	not provided [RCV001643934]	Chr11:65869802 [GRCh38] Chr11:65869802..65869803 [GRCh38] Chr11:65637273 [GRCh37] Chr11:65637273..65637274 [GRCh37] Chr11:11q13.1	benign
NM_016938.5(EFEMP2):c.234C>T (p.Tyr78=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001500872]	Chr11:65871290 [GRCh38] Chr11:65638761 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.728-336A>G	single nucleotide variant	not provided [RCV001589984]	Chr11:65868965 [GRCh38] Chr11:65636436 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1171-213G>C	single nucleotide variant	not provided [RCV001682605]	Chr11:65867292 [GRCh38] Chr11:65634763 [GRCh37] Chr11:11q13.1	benign
NM_016938.5(EFEMP2):c.491-138G>A	single nucleotide variant	not provided [RCV001583553]	Chr11:65870375 [GRCh38] Chr11:65637846 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.873G>A (p.Ala291=)	single nucleotide variant	Cardiovascular phenotype [RCV003375333]\|Cutis laxa, autosomal recessive, type 1B [RCV001503175]	Chr11:65868396 [GRCh38] Chr11:65635867 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.699G>A (p.Glu233=)	single nucleotide variant	Cardiovascular phenotype [RCV003382604]\|Cutis laxa, autosomal recessive, type 1B [RCV001477081]	Chr11:65869885 [GRCh38] Chr11:65637356 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.368-5C>T	single nucleotide variant	Cardiovascular phenotype [RCV002456899]\|Cutis laxa, autosomal recessive, type 1B [RCV001498868]\|not specified [RCV003331171]	Chr11:65870663 [GRCh38] Chr11:65638134 [GRCh37] Chr11:11q13.1	likely benign\|uncertain significance
NM_016938.5(EFEMP2):c.615C>T (p.Asn205=)	single nucleotide variant	Cardiovascular phenotype [RCV002359028]\|Cutis laxa, autosomal recessive, type 1B [RCV001461285]	Chr11:65869969 [GRCh38] Chr11:65637440 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.54A>G (p.Leu18=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001462415]	Chr11:65872301 [GRCh38] Chr11:65639772 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.724A>G (p.Ser242Gly)	single nucleotide variant	Cardiovascular phenotype [RCV003382638]\|Cutis laxa, autosomal recessive, type 1B [RCV002032862]\|not provided [RCV001772388]	Chr11:65869860 [GRCh38] Chr11:65637331 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.157C>G (p.Arg53Gly)	single nucleotide variant	not provided [RCV001765297]	Chr11:65871973 [GRCh38] Chr11:65639444 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.565G>A (p.Glu189Lys)	single nucleotide variant	Cardiovascular phenotype [RCV002343852]\|Cutis laxa, autosomal recessive, type 1B [RCV002034617]\|not provided [RCV001786115]	Chr11:65870163 [GRCh38] Chr11:65637634 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.989C>G (p.Pro330Arg)	single nucleotide variant	not provided [RCV001767476]	Chr11:65868042 [GRCh38] Chr11:65635513 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.791G>A (p.Arg264His)	single nucleotide variant	Cardiovascular phenotype [RCV003163872]\|Cutis laxa, autosomal recessive, type 1B [RCV001868514]\|not provided [RCV001752506]	Chr11:65868566 [GRCh38] Chr11:65636037 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.770G>A (p.Arg257His)	single nucleotide variant	not provided [RCV001774339]	Chr11:65868587 [GRCh38] Chr11:65636058 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.595C>A (p.Arg199Ser)	single nucleotide variant	not provided [RCV001758606]	Chr11:65870133 [GRCh38] Chr11:65637604 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.80C>T (p.Pro27Leu)	single nucleotide variant	not provided [RCV001757113]	Chr11:65872275 [GRCh38] Chr11:65639746 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.157C>T (p.Arg53Trp)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001802390]	Chr11:65871973 [GRCh38] Chr11:65639444 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.355G>A (p.Asp119Asn)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002025848]	Chr11:65871169 [GRCh38] Chr11:65638640 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.493A>G (p.Ile165Val)	single nucleotide variant	Cardiovascular phenotype [RCV003170437]\|Cutis laxa, autosomal recessive, type 1B [RCV001986181]	Chr11:65870235 [GRCh38] Chr11:65637706 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.931G>A (p.Asp311Asn)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001986827]	Chr11:65868338 [GRCh38] Chr11:65635809 [GRCh37] Chr11:11q13.1	uncertain significance
GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	copy number loss	not specified [RCV002052930]	Chr11:64935724..66405514 [GRCh37] Chr11:11q13.1-13.2	uncertain significance
NM_016938.5(EFEMP2):c.32C>G (p.Ser11Cys)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001965334]	Chr11:65872323 [GRCh38] Chr11:65639794 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.97C>G (p.Pro33Ala)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001910281]	Chr11:65872258 [GRCh38] Chr11:65639729 [GRCh37] Chr11:11q13.1	uncertain significance
NC_000011.9:g.(?_64522783)_(66283694_?)del	deletion	Bardet-Biedl syndrome [RCV002014493]\|Glycogen storage disease, type V [RCV002004587]	Chr11:64522783..66283694 [GRCh37] Chr11:11q13.1-13.2	pathogenic
NM_016938.5(EFEMP2):c.1010G>A (p.Arg337Gln)	single nucleotide variant	Cardiovascular phenotype [RCV002324428]\|Cutis laxa, autosomal recessive, type 1B [RCV001969394]	Chr11:65868021 [GRCh38] Chr11:65635492 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1094C>T (p.Ala365Val)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001910547]	Chr11:65867937 [GRCh38] Chr11:65635408 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.404G>A (p.Arg135His)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001982783]	Chr11:65870622 [GRCh38] Chr11:65638093 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1234G>A (p.Val412Met)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002029321]\|not provided [RCV004721009]	Chr11:65867016 [GRCh38] Chr11:65634487 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1225C>T (p.Arg409Trp)	single nucleotide variant	Cardiovascular phenotype [RCV003382788]\|Cutis laxa, autosomal recessive, type 1B [RCV002012733]\|not provided [RCV002291796]	Chr11:65867025 [GRCh38] Chr11:65634496 [GRCh37] Chr11:11q13.1	uncertain significance
NC_000011.9:g.(?_65634389)_(65639825_?)dup	duplication	Cutis laxa, autosomal recessive, type 1B [RCV001982338]	Chr11:65634389..65639825 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.964G>T (p.Val322Phe)	single nucleotide variant	Cardiovascular phenotype [RCV002370434]\|Cutis laxa, autosomal recessive, type 1B [RCV001897105]	Chr11:65868305 [GRCh38] Chr11:65635776 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.111+4_111+12del	deletion	Cutis laxa, autosomal recessive, type 1B [RCV001955063]	Chr11:65872232..65872240 [GRCh38] Chr11:65639703..65639711 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.626T>C (p.Met209Thr)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002033992]	Chr11:65869958 [GRCh38] Chr11:65637429 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.304C>T (p.Pro102Ser)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001960474]	Chr11:65871220 [GRCh38] Chr11:65638691 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.160+17G>T	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001877352]	Chr11:65871953 [GRCh38] Chr11:65639424 [GRCh37] Chr11:11q13.1	likely benign\|uncertain significance
NM_016938.5(EFEMP2):c.1183G>C (p.Val395Leu)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV001992115]	Chr11:65867067 [GRCh38] Chr11:65634538 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.848-11C>T	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002073479]	Chr11:65868432 [GRCh38] Chr11:65635903 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1003C>T (p.Leu335=)	single nucleotide variant	Cardiovascular phenotype [RCV003375593]\|Cutis laxa, autosomal recessive, type 1B [RCV002106482]	Chr11:65868028 [GRCh38] Chr11:65635499 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.618G>A (p.Glu206=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002148301]	Chr11:65869966 [GRCh38] Chr11:65637437 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.975-11G>A	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002127778]	Chr11:65868067 [GRCh38] Chr11:65635538 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.847+13C>T	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002108163]	Chr11:65868497 [GRCh38] Chr11:65635968 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.345C>T (p.Pro115=)	single nucleotide variant	Cardiovascular phenotype [RCV002454455]\|Cutis laxa, autosomal recessive, type 1B [RCV002109493]	Chr11:65871179 [GRCh38] Chr11:65638650 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1077C>T (p.Asp359=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002105788]	Chr11:65867954 [GRCh38] Chr11:65635425 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1305C>G (p.Thr435=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002084515]	Chr11:65866945 [GRCh38] Chr11:65634416 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.847+20G>A	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002111766]	Chr11:65868490 [GRCh38] Chr11:65635961 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.252C>T (p.Ser84=)	single nucleotide variant	Cardiovascular phenotype [RCV003382834]\|Cutis laxa, autosomal recessive, type 1B [RCV002093717]	Chr11:65871272 [GRCh38] Chr11:65638743 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.600C>A (p.Ser200=)	single nucleotide variant	Cardiovascular phenotype [RCV002352887]\|Cutis laxa, autosomal recessive, type 1B [RCV002113819]	Chr11:65870128 [GRCh38] Chr11:65637599 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1221C>A (p.Gly407=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002079462]	Chr11:65867029 [GRCh38] Chr11:65634500 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1171-19C>T	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002134218]	Chr11:65867098 [GRCh38] Chr11:65634569 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.538C>T (p.Leu180=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002191596]	Chr11:65870190 [GRCh38] Chr11:65637661 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1011A>G (p.Arg337=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002148225]	Chr11:65868020 [GRCh38] Chr11:65635491 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.160+20C>T	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002094635]	Chr11:65871950 [GRCh38] Chr11:65639421 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.368-13del	deletion	Cutis laxa, autosomal recessive, type 1B [RCV002150305]	Chr11:65870671 [GRCh38] Chr11:65638142 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.168C>T (p.Asn56=)	single nucleotide variant	Cardiovascular phenotype [RCV002409503]\|Cutis laxa, autosomal recessive, type 1B [RCV002103458]	Chr11:65871356 [GRCh38] Chr11:65638827 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1305C>T (p.Thr435=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002141989]	Chr11:65866945 [GRCh38] Chr11:65634416 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.423T>C (p.His141=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002143161]	Chr11:65870603 [GRCh38] Chr11:65638074 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.728-11T>C	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002160539]	Chr11:65868640 [GRCh38] Chr11:65636111 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.974+12C>T	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002137282]	Chr11:65868283 [GRCh38] Chr11:65635754 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.111+17C>G	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002177230]\|not specified [RCV003491029]	Chr11:65872227 [GRCh38] Chr11:65639698 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1014G>A (p.Glu338=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002179195]	Chr11:65868017 [GRCh38] Chr11:65635488 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.607+18C>A	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002103630]	Chr11:65870103 [GRCh38] Chr11:65637574 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1026C>T (p.Ser342=)	single nucleotide variant	Cardiovascular phenotype [RCV003161491]\|Cutis laxa, autosomal recessive, type 1B [RCV002119786]\|not specified [RCV003230732]	Chr11:65868005 [GRCh38] Chr11:65635476 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1170+13C>T	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002102371]	Chr11:65867848 [GRCh38] Chr11:65635319 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1161T>C (p.Phe387=)	single nucleotide variant	Cardiovascular phenotype [RCV002372994]\|Cutis laxa, autosomal recessive, type 1B [RCV002137957]	Chr11:65867870 [GRCh38] Chr11:65635341 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.848-16C>T	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002120965]	Chr11:65868437 [GRCh38] Chr11:65635908 [GRCh37] Chr11:11q13.1	benign
NC_000011.9:g.(?_65325080)_(65639825_?)del	deletion	Aicardi-Goutieres syndrome 3 [RCV003119977]\|not provided [RCV003109848]	Chr11:65325080..65639825 [GRCh37] Chr11:11q13.1	pathogenic\|uncertain significance\|no classifications from unflagged records
NM_016938.5(EFEMP2):c.727+19C>G	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003111924]	Chr11:65869838 [GRCh38] Chr11:65637309 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.969T>C (p.Ser323=)	single nucleotide variant	Cardiovascular phenotype [RCV003162143]\|Cutis laxa, autosomal recessive, type 1B [RCV003118376]	Chr11:65868300 [GRCh38] Chr11:65635771 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1302C>T (p.Leu434=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003118823]	Chr11:65866948 [GRCh38] Chr11:65634419 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.389C>A (p.Ala130Asp)	single nucleotide variant	not provided [RCV004786122]	Chr11:65870637 [GRCh38] Chr11:65638108 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.247C>T (p.Arg83Cys)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003128367]	Chr11:65871277 [GRCh38] Chr11:65638748 [GRCh37] Chr11:11q13.1	likely pathogenic
NM_016938.5(EFEMP2):c.848-1_849del	deletion	not provided [RCV003129048]	Chr11:65868420..65868422 [GRCh38] Chr11:65635891..65635893 [GRCh37] Chr11:11q13.1	likely pathogenic
NM_016938.5(EFEMP2):c.804C>T (p.His268=)	single nucleotide variant	Cardiovascular phenotype [RCV002419317]	Chr11:65868553 [GRCh38] Chr11:65636024 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1325C>A (p.Thr442Asn)	single nucleotide variant	Cardiovascular phenotype [RCV002385771]\|Cutis laxa, autosomal recessive, type 1B [RCV003094971]	Chr11:65866925 [GRCh38] Chr11:65634396 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1323C>T (p.Tyr441=)	single nucleotide variant	Cardiovascular phenotype [RCV002385729]	Chr11:65866927 [GRCh38] Chr11:65634398 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.256G>A (p.Ala86Thr)	single nucleotide variant	Cardiovascular phenotype [RCV002452754]	Chr11:65871268 [GRCh38] Chr11:65638739 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.357C>A (p.Asp119Glu)	single nucleotide variant	Cardiovascular phenotype [RCV002455063]	Chr11:65871167 [GRCh38] Chr11:65638638 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.511C>T (p.Arg171Cys)	single nucleotide variant	Cardiovascular phenotype [RCV002351538]	Chr11:65870217 [GRCh38] Chr11:65637688 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.553C>T (p.Arg185Cys)	single nucleotide variant	Cardiovascular phenotype [RCV002351879]\|Cutis laxa, autosomal recessive, type 1B [RCV003642999]	Chr11:65870175 [GRCh38] Chr11:65637646 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.711T>C (p.Asp237=)	single nucleotide variant	Cardiovascular phenotype [RCV002367441]	Chr11:65869873 [GRCh38] Chr11:65637344 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.635C>T (p.Pro212Leu)	single nucleotide variant	Cardiovascular phenotype [RCV002369017]	Chr11:65869949 [GRCh38] Chr11:65637420 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.548C>T (p.Ser183Phe)	single nucleotide variant	Cardiovascular phenotype [RCV002349893]	Chr11:65870180 [GRCh38] Chr11:65637651 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.506G>T (p.Arg169Leu)	single nucleotide variant	Cardiovascular phenotype [RCV002351451]	Chr11:65870222 [GRCh38] Chr11:65637693 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.546C>T (p.Gly182=)	single nucleotide variant	Cardiovascular phenotype [RCV002349768]\|Cutis laxa, autosomal recessive, type 1B [RCV003776113]	Chr11:65870182 [GRCh38] Chr11:65637653 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.669C>A (p.Thr223=)	single nucleotide variant	Cardiovascular phenotype [RCV003306014]	Chr11:65869915 [GRCh38] Chr11:65637386 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1213G>C (p.Val405Leu)	single nucleotide variant	Cardiovascular phenotype [RCV003306015]	Chr11:65867037 [GRCh38] Chr11:65634508 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.106T>C (p.Tyr36His)	single nucleotide variant	Cardiovascular phenotype [RCV003306016]	Chr11:65872249 [GRCh38] Chr11:65639720 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1024T>C (p.Ser342Pro)	single nucleotide variant	Cardiovascular phenotype [RCV003306017]	Chr11:65868007 [GRCh38] Chr11:65635478 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.126C>T (p.Gly42=)	single nucleotide variant	Cardiovascular phenotype [RCV003306018]	Chr11:65872004 [GRCh38] Chr11:65639475 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.77C>T (p.Ser26Phe)	single nucleotide variant	Cardiovascular phenotype [RCV003306020]	Chr11:65872278 [GRCh38] Chr11:65639749 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.20G>T (p.Cys7Phe)	single nucleotide variant	Cardiovascular phenotype [RCV003305611]\|not provided [RCV004786914]	Chr11:65872335 [GRCh38] Chr11:65639806 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.311A>G (p.Gln104Arg)	single nucleotide variant	Cardiovascular phenotype [RCV003305612]\|not specified [RCV003988103]	Chr11:65871213 [GRCh38] Chr11:65638684 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.732TGA[1] (p.Asp245del)	microsatellite	Cutis laxa, autosomal recessive, type 1B [RCV002471860]	Chr11:65868620..65868622 [GRCh38] Chr11:65636091..65636093 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1080G>A (p.Val360=)	single nucleotide variant	Cardiovascular phenotype [RCV002417752]	Chr11:65867951 [GRCh38] Chr11:65635422 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.315C>G (p.His105Gln)	single nucleotide variant	Cardiovascular phenotype [RCV002320904]	Chr11:65871209 [GRCh38] Chr11:65638680 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1071C>T (p.Pro357=)	single nucleotide variant	Cardiovascular phenotype [RCV002423409]\|Cutis laxa, autosomal recessive, type 1B [RCV003528396]\|EFEMP2-related disorder [RCV004750742]	Chr11:65867960 [GRCh38] Chr11:65635431 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.645G>T (p.Gln215His)	single nucleotide variant	Cardiovascular phenotype [RCV002361892]	Chr11:65869939 [GRCh38] Chr11:65637410 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.306C>T (p.Pro102=)	single nucleotide variant	Cardiovascular phenotype [RCV002444314]	Chr11:65871218 [GRCh38] Chr11:65638689 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.647G>A (p.Arg216His)	single nucleotide variant	Cardiovascular phenotype [RCV002361968]	Chr11:65869937 [GRCh38] Chr11:65637408 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.937_939delinsGAT (p.Asn313Asp)	indel	Cardiovascular phenotype [RCV002371736]	Chr11:65868330..65868332 [GRCh38] Chr11:65635801..65635803 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1036C>T (p.Arg346Cys)	single nucleotide variant	Cardiovascular phenotype [RCV002394337]	Chr11:65867995 [GRCh38] Chr11:65635466 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1280G>A (p.Arg427Gln)	single nucleotide variant	Cardiovascular phenotype [RCV002376622]	Chr11:65866970 [GRCh38] Chr11:65634441 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1177AAC[1] (p.Asn394del)	microsatellite	Cardiovascular phenotype [RCV002330384]\|Cutis laxa, autosomal recessive, type 1B [RCV003096383]	Chr11:65867068..65867070 [GRCh38] Chr11:65634539..65634541 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.923G>A (p.Arg308His)	single nucleotide variant	Cardiovascular phenotype [RCV002371349]\|Cutis laxa, autosomal recessive, type 1B [RCV003100125]	Chr11:65868346 [GRCh38] Chr11:65635817 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.888G>A (p.Glu296=)	single nucleotide variant	Cardiovascular phenotype [RCV002375998]	Chr11:65868381 [GRCh38] Chr11:65635852 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.466C>T (p.Arg156Cys)	single nucleotide variant	Cardiovascular phenotype [RCV002335144]	Chr11:65870560 [GRCh38] Chr11:65638031 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1140T>A (p.Ala380=)	single nucleotide variant	Cardiovascular phenotype [RCV002456919]	Chr11:65867891 [GRCh38] Chr11:65635362 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1153G>A (p.Gly385Arg)	single nucleotide variant	Cardiovascular phenotype [RCV002363851]	Chr11:65867878 [GRCh38] Chr11:65635349 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1165A>C (p.Ile389Leu)	single nucleotide variant	Cardiovascular phenotype [RCV002323449]\|Cutis laxa, autosomal recessive, type 1B [RCV003094533]	Chr11:65867866 [GRCh38] Chr11:65635337 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.945C>T (p.Cys315=)	single nucleotide variant	Cardiovascular phenotype [RCV002374037]	Chr11:65868324 [GRCh38] Chr11:65635795 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.834A>G (p.Thr278=)	single nucleotide variant	Cardiovascular phenotype [RCV002434690]	Chr11:65868523 [GRCh38] Chr11:65635994 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.223T>C (p.Tyr75His)	single nucleotide variant	Cardiovascular phenotype [RCV002428360]	Chr11:65871301 [GRCh38] Chr11:65638772 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.655A>G (p.Asn219Asp)	single nucleotide variant	Cardiovascular phenotype [RCV002364391]	Chr11:65869929 [GRCh38] Chr11:65637400 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1192A>C (p.Met398Leu)	single nucleotide variant	Cardiovascular phenotype [RCV002335854]	Chr11:65867058 [GRCh38] Chr11:65634529 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1078G>A (p.Val360Met)	single nucleotide variant	Cardiovascular phenotype [RCV002422212]	Chr11:65867953 [GRCh38] Chr11:65635424 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.582G>A (p.Leu194=)	single nucleotide variant	Cardiovascular phenotype [RCV002353217]	Chr11:65870146 [GRCh38] Chr11:65637617 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.816T>C (p.Gly272=)	single nucleotide variant	Cardiovascular phenotype [RCV002427782]	Chr11:65868541 [GRCh38] Chr11:65636012 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.706C>T (p.Arg236Trp)	single nucleotide variant	Cardiovascular phenotype [RCV002365079]	Chr11:65869878 [GRCh38] Chr11:65637349 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.290C>A (p.Pro97Gln)	single nucleotide variant	Cardiovascular phenotype [RCV002439809]	Chr11:65871234 [GRCh38] Chr11:65638705 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1176C>A (p.Ile392=)	single nucleotide variant	Cardiovascular phenotype [RCV002328360]	Chr11:65867074 [GRCh38] Chr11:65634545 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1072G>A (p.Ala358Thr)	single nucleotide variant	Cardiovascular phenotype [RCV002423770]	Chr11:65867959 [GRCh38] Chr11:65635430 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.305C>T (p.Pro102Leu)	single nucleotide variant	Cardiovascular phenotype [RCV002444187]\|Cutis laxa, autosomal recessive, type 1B [RCV003775454]	Chr11:65871219 [GRCh38] Chr11:65638690 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1171-2_1195del	deletion	Cardiovascular phenotype [RCV002331962]	Chr11:65867055..65867081 [GRCh38] Chr11:65634526..65634552 [GRCh37] Chr11:11q13.1	likely pathogenic
NM_016938.5(EFEMP2):c.773G>A (p.Cys258Tyr)	single nucleotide variant	Cardiovascular phenotype [RCV002400767]	Chr11:65868584 [GRCh38] Chr11:65636055 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.185C>T (p.Pro62Leu)	single nucleotide variant	Cardiovascular phenotype [RCV002414893]	Chr11:65871339 [GRCh38] Chr11:65638810 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.30G>A (p.Gly10=)	single nucleotide variant	Cardiovascular phenotype [RCV002325957]\|Cutis laxa, autosomal recessive, type 1B [RCV003642991]	Chr11:65872325 [GRCh38] Chr11:65639796 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.393G>A (p.Leu131=)	single nucleotide variant	Cardiovascular phenotype [RCV002373274]	Chr11:65870633 [GRCh38] Chr11:65638104 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.730A>G (p.Ile244Val)	single nucleotide variant	Cardiovascular phenotype [RCV002380032]	Chr11:65868627 [GRCh38] Chr11:65636098 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.732T>C (p.Ile244=)	single nucleotide variant	Cardiovascular phenotype [RCV002380172]	Chr11:65868625 [GRCh38] Chr11:65636096 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1183G>T (p.Val395Phe)	single nucleotide variant	Cardiovascular phenotype [RCV002337636]	Chr11:65867067 [GRCh38] Chr11:65634538 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1123G>C (p.Ala375Pro)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002295744]	Chr11:65867908 [GRCh38] Chr11:65635379 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.480C>T (p.Pro160=)	single nucleotide variant	Cardiovascular phenotype [RCV002337936]	Chr11:65870546 [GRCh38] Chr11:65638017 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.467G>A (p.Arg156His)	single nucleotide variant	Cardiovascular phenotype [RCV002330531]	Chr11:65870559 [GRCh38] Chr11:65638030 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.68G>A (p.Gly23Glu)	single nucleotide variant	Cardiovascular phenotype [RCV002378054]	Chr11:65872287 [GRCh38] Chr11:65639758 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.975-12C>T	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003075950]	Chr11:65868068 [GRCh38] Chr11:65635539 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.848-9C>T	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002730760]	Chr11:65868430 [GRCh38] Chr11:65635901 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.481G>C (p.Glu161Gln)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003017686]	Chr11:65870545 [GRCh38] Chr11:65638016 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.535A>G (p.Asn179Asp)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002970778]	Chr11:65870193 [GRCh38] Chr11:65637664 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1210C>A (p.Pro404Thr)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002615214]	Chr11:65867040 [GRCh38] Chr11:65634511 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.111+19G>A	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002994976]	Chr11:65872225 [GRCh38] Chr11:65639696 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.668C>T (p.Thr223Ile)	single nucleotide variant	Cardiovascular phenotype [RCV004067850]\|Cutis laxa, autosomal recessive, type 1B [RCV002755482]	Chr11:65869916 [GRCh38] Chr11:65637387 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.848-15T>C	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002903914]	Chr11:65868436 [GRCh38] Chr11:65635907 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1228G>C (p.Glu410Gln)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002731197]	Chr11:65867022 [GRCh38] Chr11:65634493 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.640G>A (p.Glu214Lys)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003075705]	Chr11:65869944 [GRCh38] Chr11:65637415 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1060C>T (p.Arg354Trp)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002593032]	Chr11:65867971 [GRCh38] Chr11:65635442 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1149G>A (p.Ser383=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002640258]	Chr11:65867882 [GRCh38] Chr11:65635353 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1218G>A (p.Thr406=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003079623]	Chr11:65867032 [GRCh38] Chr11:65634503 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.225C>T (p.Tyr75=)	single nucleotide variant	Cardiovascular phenotype [RCV003377822]\|Cutis laxa, autosomal recessive, type 1B [RCV002976196]	Chr11:65871299 [GRCh38] Chr11:65638770 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1184T>C (p.Val395Ala)	single nucleotide variant	Cardiovascular phenotype [RCV004160722]	Chr11:65867066 [GRCh38] Chr11:65634537 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.608-5_608-4delinsAG	indel	Cutis laxa, autosomal recessive, type 1B [RCV002926654]	Chr11:65869980..65869981 [GRCh38] Chr11:65637451..65637452 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1204G>A (p.Ala402Thr)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002885883]	Chr11:65867046 [GRCh38] Chr11:65634517 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.316C>A (p.Pro106Thr)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002625045]	Chr11:65871208 [GRCh38] Chr11:65638679 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.627G>A (p.Met209Ile)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002801073]	Chr11:65869957 [GRCh38] Chr11:65637428 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1110C>G (p.Pro370=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003082327]	Chr11:65867921 [GRCh38] Chr11:65635392 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.291G>A (p.Pro97=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002928228]	Chr11:65871233 [GRCh38] Chr11:65638704 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1167T>C (p.Ile389=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002872683]	Chr11:65867864 [GRCh38] Chr11:65635335 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.392T>C (p.Leu131Pro)	single nucleotide variant	Cardiovascular phenotype [RCV004140888]	Chr11:65870634 [GRCh38] Chr11:65638105 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.491-13C>G	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003031538]	Chr11:65870250 [GRCh38] Chr11:65637721 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.160+7G>T	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002899014]	Chr11:65871963 [GRCh38] Chr11:65639434 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.7C>T (p.Pro3Ser)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002895745]	Chr11:65872348 [GRCh38] Chr11:65639819 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.455C>A (p.Pro152His)	single nucleotide variant	Cardiovascular phenotype [RCV003377878]\|Cutis laxa, autosomal recessive, type 1B [RCV003088049]	Chr11:65870571 [GRCh38] Chr11:65638042 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.848-1_850del	deletion	Cutis laxa, autosomal recessive, type 1B [RCV002857374]	Chr11:65868419..65868422 [GRCh38] Chr11:65635890..65635893 [GRCh37] Chr11:11q13.1	likely pathogenic
NM_016938.5(EFEMP2):c.859dup (p.Cys287fs)	duplication	Cutis laxa, autosomal recessive, type 1B [RCV002966485]\|not provided [RCV004774766]	Chr11:65868409..65868410 [GRCh38] Chr11:65635880..65635881 [GRCh37] Chr11:11q13.1	pathogenic\|likely pathogenic
NM_016938.5(EFEMP2):c.100G>A (p.Asp34Asn)	single nucleotide variant	Cardiovascular phenotype [RCV004066105]\|Cutis laxa, autosomal recessive, type 1B [RCV002895796]	Chr11:65872255 [GRCh38] Chr11:65639726 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.43T>G (p.Trp15Gly)	single nucleotide variant	Cardiovascular phenotype [RCV004174860]	Chr11:65872312 [GRCh38] Chr11:65639783 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.161-6C>T	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003046976]	Chr11:65871369 [GRCh38] Chr11:65638840 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.490+16A>G	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002856989]	Chr11:65870520 [GRCh38] Chr11:65637991 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.270C>T (p.Asp90=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003090945]	Chr11:65871254 [GRCh38] Chr11:65638725 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1083C>T (p.Phe361=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002857055]	Chr11:65867948 [GRCh38] Chr11:65635419 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.450C>T (p.Thr150=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002791639]	Chr11:65870576 [GRCh38] Chr11:65638047 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.933_950dup (p.Val316_Glu317insAspThrAsnArgCysVal)	duplication	Cutis laxa, autosomal recessive, type 1B [RCV002942840]	Chr11:65868318..65868319 [GRCh38] Chr11:65635789..65635790 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1092G>A (p.Gln364=)	single nucleotide variant	Cardiovascular phenotype [RCV004072010]\|Cutis laxa, autosomal recessive, type 1B [RCV002654568]	Chr11:65867939 [GRCh38] Chr11:65635410 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.421C>T (p.His141Tyr)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002653364]	Chr11:65870605 [GRCh38] Chr11:65638076 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.6C>T (p.Leu2=)	single nucleotide variant	Cardiovascular phenotype [RCV003294562]\|Cutis laxa, autosomal recessive, type 1B [RCV002608000]	Chr11:65872349 [GRCh38] Chr11:65639820 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.667A>T (p.Thr223Ser)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003072250]	Chr11:65869917 [GRCh38] Chr11:65637388 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1080G>C (p.Val360=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002814984]	Chr11:65867951 [GRCh38] Chr11:65635422 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1162T>C (p.Tyr388His)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV002610312]	Chr11:65867869 [GRCh38] Chr11:65635340 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.454C>G (p.Pro152Ala)	single nucleotide variant	Cardiovascular phenotype [RCV003296127]	Chr11:65870572 [GRCh38] Chr11:65638043 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.726T>C (p.Ser242=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003224672]	Chr11:65869858 [GRCh38] Chr11:65637329 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.474C>A (p.Ile158=)	single nucleotide variant	Cardiovascular phenotype [RCV003181984]	Chr11:65870552 [GRCh38] Chr11:65638023 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.975-5T>G	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003147011]	Chr11:65868061 [GRCh38] Chr11:65635532 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.-7-1_-7delinsAT	indel	Cutis laxa, autosomal recessive, type 1B [RCV003226820]	Chr11:65872361..65872362 [GRCh38] Chr11:65639832..65639833 [GRCh37] Chr11:11q13.1	likely pathogenic
NM_016938.5(EFEMP2):c.1289C>A (p.Ser430Tyr)	single nucleotide variant	Cardiovascular phenotype [RCV003306013]	Chr11:65866961 [GRCh38] Chr11:65634432 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.916G>T (p.Gly306Cys)	single nucleotide variant	Cardiovascular phenotype [RCV004350722]	Chr11:65868353 [GRCh38] Chr11:65635824 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1099T>C (p.Ser367Pro)	single nucleotide variant	Cardiovascular phenotype [RCV004348733]	Chr11:65867932 [GRCh38] Chr11:65635403 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.607+14G>T	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003642510]	Chr11:65870107 [GRCh38] Chr11:65637578 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.48G>T (p.Ala16=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003642467]	Chr11:65872307 [GRCh38] Chr11:65639778 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.367+10del	deletion	Cutis laxa, autosomal recessive, type 1B [RCV003880411]	Chr11:65871147 [GRCh38] Chr11:65638618 [GRCh37] Chr11:11q13.1	benign
NM_016938.5(EFEMP2):c.609T>C (p.Asp203=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003642427]	Chr11:65869975 [GRCh38] Chr11:65637446 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.160+17G>A	single nucleotide variant	not specified [RCV003479630]	Chr11:65871953 [GRCh38] Chr11:65639424 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.-7-12A>G	single nucleotide variant	not specified [RCV003479721]	Chr11:65872373 [GRCh38] Chr11:65639844 [GRCh37] Chr11:11q13.1	uncertain significance
GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	copy number gain	not provided [RCV003484842]	Chr11:59923608..76272324 [GRCh37] Chr11:11q12.2-13.5	pathogenic
NM_016938.5(EFEMP2):c.491-6C>T	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003529306]	Chr11:65870243 [GRCh38] Chr11:65637714 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.933C>T (p.Asp311=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003849243]	Chr11:65868336 [GRCh38] Chr11:65635807 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1170+11T>C	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003529034]	Chr11:65867850 [GRCh38] Chr11:65635321 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.917dup (p.Tyr307fs)	duplication	Cutis laxa, autosomal recessive, type 1B [RCV003527933]	Chr11:65868351..65868352 [GRCh38] Chr11:65635822..65635823 [GRCh37] Chr11:11q13.1	pathogenic
NM_016938.5(EFEMP2):c.792T>C (p.Arg264=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003881581]	Chr11:65868565 [GRCh38] Chr11:65636036 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.367+13T>C	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003644010]	Chr11:65871144 [GRCh38] Chr11:65638615 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.727+7G>C	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003528519]	Chr11:65869850 [GRCh38] Chr11:65637321 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.368-16G>A	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003642584]	Chr11:65870674 [GRCh38] Chr11:65638145 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1156G>A (p.Asp386Asn)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003644501]	Chr11:65867875 [GRCh38] Chr11:65635346 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.847+9T>C	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003643171]	Chr11:65868501 [GRCh38] Chr11:65635972 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1248G>A (p.Glu416=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003527954]	Chr11:65867002 [GRCh38] Chr11:65634473 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1170+12G>A	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003643407]	Chr11:65867849 [GRCh38] Chr11:65635320 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.338_339del (p.Gly112_Tyr113insTer)	deletion	Cutis laxa, autosomal recessive, type 1B [RCV003528849]	Chr11:65871185..65871186 [GRCh38] Chr11:65638656..65638657 [GRCh37] Chr11:11q13.1	pathogenic
NM_016938.5(EFEMP2):c.519C>T (p.Cys173=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003528856]	Chr11:65870209 [GRCh38] Chr11:65637680 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.491-15T>C	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003529111]	Chr11:65870252 [GRCh38] Chr11:65637723 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.727+16C>G	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003529552]	Chr11:65869841 [GRCh38] Chr11:65637312 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.333A>G (p.Pro111=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003642410]	Chr11:65871191 [GRCh38] Chr11:65638662 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.591C>T (p.Asn197=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003643521]	Chr11:65870137 [GRCh38] Chr11:65637608 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.633C>A (p.Ala211=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003529620]	Chr11:65869951 [GRCh38] Chr11:65637422 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.781G>A (p.Glu261Lys)	single nucleotide variant	not specified [RCV003490874]	Chr11:65868576 [GRCh38] Chr11:65636047 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.727+7G>A	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003528922]	Chr11:65869850 [GRCh38] Chr11:65637321 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1171-17del	deletion	Cutis laxa, autosomal recessive, type 1B [RCV003644186]	Chr11:65867096 [GRCh38] Chr11:65634567 [GRCh37] Chr11:11q13.1	benign
NM_016938.5(EFEMP2):c.848-12C>T	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003529375]	Chr11:65868433 [GRCh38] Chr11:65635904 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.492C>T (p.Asp164=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003644301]	Chr11:65870236 [GRCh38] Chr11:65637707 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.513C>T (p.Arg171=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003529507]	Chr11:65870215 [GRCh38] Chr11:65637686 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1171-9G>A	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003529345]	Chr11:65867088 [GRCh38] Chr11:65634559 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1218G>T (p.Thr406=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003878526]	Chr11:65867032 [GRCh38] Chr11:65634503 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.663T>C (p.Tyr221=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003642861]	Chr11:65869921 [GRCh38] Chr11:65637392 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.18C>T (p.Ser6=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003643347]	Chr11:65872337 [GRCh38] Chr11:65639808 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.368-2A>G	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003644188]	Chr11:65870660 [GRCh38] Chr11:65638131 [GRCh37] Chr11:11q13.1	likely pathogenic
NM_016938.5(EFEMP2):c.204A>G (p.Glu68=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003642640]	Chr11:65871320 [GRCh38] Chr11:65638791 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1236G>A (p.Val412=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003644429]	Chr11:65867014 [GRCh38] Chr11:65634485 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.180C>T (p.Thr60=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003644369]	Chr11:65871344 [GRCh38] Chr11:65638815 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.975-20C>T	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003644428]	Chr11:65868076 [GRCh38] Chr11:65635547 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.297A>C (p.Pro99=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003822609]	Chr11:65871227 [GRCh38] Chr11:65638698 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.778_780del (p.Asn260del)	deletion	Cutis laxa, autosomal recessive, type 1B [RCV003859618]	Chr11:65868577..65868579 [GRCh38] Chr11:65636048..65636050 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.543T>C (p.Pro181=)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003863793]	Chr11:65870185 [GRCh38] Chr11:65637656 [GRCh37] Chr11:11q13.1	likely benign
GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	copy number gain	not specified [RCV003986944]	Chr11:56895955..69295402 [GRCh37] Chr11:11q12.1-13.3	likely pathogenic
NM_016938.5(EFEMP2):c.290dup (p.Pro98fs)	duplication	Cutis laxa, autosomal recessive, type 1B [RCV003642393]	Chr11:65871233..65871234 [GRCh38] Chr11:65638704..65638705 [GRCh37] Chr11:11q13.1	pathogenic
NM_016938.5(EFEMP2):c.636A>T (p.Pro212=)	single nucleotide variant	not provided [RCV003885923]	Chr11:65869948 [GRCh38] Chr11:65637419 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.580C>A (p.Leu194Met)	single nucleotide variant	Cardiovascular phenotype [RCV004522101]	Chr11:65870148 [GRCh38] Chr11:65637619 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.830C>G (p.Ala277Gly)	single nucleotide variant	Cardiovascular phenotype [RCV004522104]	Chr11:65868527 [GRCh38] Chr11:65635998 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.964G>A (p.Val322Ile)	single nucleotide variant	Cardiovascular phenotype [RCV004522108]	Chr11:65868305 [GRCh38] Chr11:65635776 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1006T>C (p.Cys336Arg)	single nucleotide variant	Cardiovascular phenotype [RCV004522087]	Chr11:65868025 [GRCh38] Chr11:65635496 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1022C>T (p.Ser341Leu)	single nucleotide variant	Cardiovascular phenotype [RCV004522088]	Chr11:65868009 [GRCh38] Chr11:65635480 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1190C>G (p.Ala397Gly)	single nucleotide variant	Cardiovascular phenotype [RCV004522089]	Chr11:65867060 [GRCh38] Chr11:65634531 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1251G>C (p.Met417Ile)	single nucleotide variant	Cardiovascular phenotype [RCV004522090]	Chr11:65866999 [GRCh38] Chr11:65634470 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.186T>A (p.Pro62=)	single nucleotide variant	Cardiovascular phenotype [RCV004522091]	Chr11:65871338 [GRCh38] Chr11:65638809 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.302C>T (p.Pro101Leu)	single nucleotide variant	Cardiovascular phenotype [RCV004522093]	Chr11:65871222 [GRCh38] Chr11:65638693 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.476G>A (p.Gly159Glu)	single nucleotide variant	Cardiovascular phenotype [RCV004522096]	Chr11:65870550 [GRCh38] Chr11:65638021 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.526C>T (p.Arg176Cys)	single nucleotide variant	Cardiovascular phenotype [RCV004522099]	Chr11:65870202 [GRCh38] Chr11:65637673 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.546C>G (p.Gly182=)	single nucleotide variant	Cardiovascular phenotype [RCV004522100]	Chr11:65870182 [GRCh38] Chr11:65637653 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.632C>A (p.Ala211Asp)	single nucleotide variant	Cardiovascular phenotype [RCV004522102]	Chr11:65869952 [GRCh38] Chr11:65637423 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.789C>A (p.Gly263=)	single nucleotide variant	Cardiovascular phenotype [RCV004522103]	Chr11:65868568 [GRCh38] Chr11:65636039 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.862G>A (p.Glu288Lys)	single nucleotide variant	Cardiovascular phenotype [RCV004522105]	Chr11:65868407 [GRCh38] Chr11:65635878 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.41T>C (p.Leu14Pro)	single nucleotide variant	Cardiovascular phenotype [RCV004522095]	Chr11:65872314 [GRCh38] Chr11:65639785 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.946G>A (p.Val316Met)	single nucleotide variant	Cardiovascular phenotype [RCV004522106]	Chr11:65868323 [GRCh38] Chr11:65635794 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.94G>A (p.Glu32Lys)	single nucleotide variant	Cardiovascular phenotype [RCV004522107]	Chr11:65872261 [GRCh38] Chr11:65639732 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.976C>G (p.Arg326Gly)	single nucleotide variant	Cutis laxa, autosomal recessive, type 1B [RCV003990639]	Chr11:65868055 [GRCh38] Chr11:65635526 [GRCh37] Chr11:11q13.1	pathogenic
NM_016938.5(EFEMP2):c.340G>A (p.Glu114Lys)	single nucleotide variant	Cardiovascular phenotype [RCV004522094]	Chr11:65871184 [GRCh38] Chr11:65638655 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.47C>G (p.Ala16Gly)	single nucleotide variant	Cardiovascular phenotype [RCV004522097]	Chr11:65872308 [GRCh38] Chr11:65639779 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.526C>G (p.Arg176Gly)	single nucleotide variant	Cardiovascular phenotype [RCV004522098]	Chr11:65870202 [GRCh38] Chr11:65637673 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.999C>T (p.Asn333=)	single nucleotide variant	Cardiovascular phenotype [RCV004522109]	Chr11:65868032 [GRCh38] Chr11:65635503 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.829G>A (p.Ala277Thr)	single nucleotide variant	Cardiovascular phenotype [RCV004384883]	Chr11:65868528 [GRCh38] Chr11:65635999 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.536A>G (p.Asn179Ser)	single nucleotide variant	Cardiovascular phenotype [RCV004384879]	Chr11:65870192 [GRCh38] Chr11:65637663 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.631G>A (p.Ala211Thr)	single nucleotide variant	Cardiovascular phenotype [RCV004384880]	Chr11:65869953 [GRCh38] Chr11:65637424 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1055C>T (p.Ser352Leu)	single nucleotide variant	Cardiovascular phenotype [RCV004384878]	Chr11:65867976 [GRCh38] Chr11:65635447 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1009C>T (p.Arg337Ter)	single nucleotide variant	Cutis laxa [RCV004018137]	Chr11:65868022 [GRCh38] Chr11:65635493 [GRCh37] Chr11:11q13.1	likely pathogenic
NM_016938.5(EFEMP2):c.680G>A (p.Arg227His)	single nucleotide variant	Cardiovascular phenotype [RCV004384881]	Chr11:65869904 [GRCh38] Chr11:65637375 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.68G>C (p.Gly23Ala)	single nucleotide variant	Cardiovascular phenotype [RCV004384882]	Chr11:65872287 [GRCh38] Chr11:65639758 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.789C>T (p.Gly263=)	single nucleotide variant	Cardiovascular phenotype [RCV004622275]	Chr11:65868568 [GRCh38] Chr11:65636039 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.456T>G (p.Pro152=)	single nucleotide variant	Cardiovascular phenotype [RCV004622282]	Chr11:65870570 [GRCh38] Chr11:65638041 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.509A>T (p.Tyr170Phe)	single nucleotide variant	not provided [RCV004590876]	Chr11:65870219 [GRCh38] Chr11:65637690 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.774C>T (p.Cys258=)	single nucleotide variant	Cardiovascular phenotype [RCV004622273]	Chr11:65868583 [GRCh38] Chr11:65636054 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.1233C>T (p.Tyr411=)	single nucleotide variant	Cardiovascular phenotype [RCV004622277]	Chr11:65867017 [GRCh38] Chr11:65634488 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.382G>A (p.Ala128Thr)	single nucleotide variant	Cardiovascular phenotype [RCV004622278]	Chr11:65870644 [GRCh38] Chr11:65638115 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1034A>G (p.His345Arg)	single nucleotide variant	Cardiovascular phenotype [RCV004622283]	Chr11:65867997 [GRCh38] Chr11:65635468 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1257C>A (p.Thr419=)	single nucleotide variant	Cardiovascular phenotype [RCV004622284]	Chr11:65866993 [GRCh38] Chr11:65634464 [GRCh37] Chr11:11q13.1	likely benign
NM_016938.5(EFEMP2):c.317C>T (p.Pro106Leu)	single nucleotide variant	Cardiovascular phenotype [RCV004622285]	Chr11:65871207 [GRCh38] Chr11:65638678 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1208G>A (p.Arg403Gln)	single nucleotide variant	Cardiovascular phenotype [RCV004622274]	Chr11:65867042 [GRCh38] Chr11:65634513 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.1291G>A (p.Val431Ile)	single nucleotide variant	Cardiovascular phenotype [RCV004622280]	Chr11:65866959 [GRCh38] Chr11:65634430 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.625A>T (p.Met209Leu)	single nucleotide variant	Cardiovascular phenotype [RCV004622279]	Chr11:65869959 [GRCh38] Chr11:65637430 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.608-3C>G	single nucleotide variant	Cardiovascular phenotype [RCV004622281]	Chr11:65869979 [GRCh38] Chr11:65637450 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.271C>G (p.Leu91Val)	single nucleotide variant	not provided [RCV004812029]	Chr11:65871253 [GRCh38] Chr11:65638724 [GRCh37] Chr11:11q13.1	uncertain significance
NM_016938.5(EFEMP2):c.430C>G (p.Pro144Ala)	single nucleotide variant	EFEMP2-related disorder [RCV004732070]	Chr11:65870596 [GRCh38] Chr11:65638067 [GRCh37] Chr11:11q13.1	uncertain significance

miRNA Target Status

Confirmed Target Of

miRNA Gene	Mature miRNA	Method Name	Result Type	Data Type	Support Type	PMID
MIR346	hsa-miR-346	Mirtarbase	external_info	Microarray//qRT-PCR	Functional MTI (Weak)	16822819
MIR346	hsa-miR-346	Mirtarbase	external_info	Western blot;Other	Functional MTI	21611196

Predicted Target Of

	Summary Value
Count of predictions:	6859
Count of miRNA genes:	1053
Interacting mature miRNAs:	1344
Transcripts:	ENST00000307998, ENST00000524408, ENST00000525392, ENST00000526624, ENST00000526628, ENST00000526911, ENST00000527277, ENST00000527378, ENST00000527969, ENST00000528176, ENST00000528409, ENST00000529870, ENST00000530806, ENST00000530850, ENST00000531005, ENST00000531645, ENST00000531972, ENST00000532084, ENST00000532648, ENST00000533347
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1357380	BW64_H	Body weight QTL 64 (human)	2.2		Body weight	percent fat after exercise training	11	60978937	86978937	Human

Markers in Region

WI-18484

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	65,633,754 - 65,633,853	UniSTS	GRCh37
Build 36	11	65,390,330 - 65,390,429	RGD	NCBI36
Celera	11	62,957,660 - 62,957,759	RGD
Cytogenetic Map	11	q13.1	UniSTS
Cytogenetic Map	11	q13	UniSTS
HuRef	11	61,960,271 - 61,960,370	UniSTS
GeneMap99-GB4 RH Map	11	247.67	UniSTS
Whitehead-RH Map	11	335.8	UniSTS

RH36142

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	65,633,666 - 65,633,777	UniSTS	GRCh37
Build 36	11	65,390,242 - 65,390,353	RGD	NCBI36
Celera	11	62,957,572 - 62,957,683	RGD
Cytogenetic Map	11	q13.1	UniSTS
Cytogenetic Map	11	q13	UniSTS
HuRef	11	61,960,183 - 61,960,294	UniSTS
GeneMap99-GB4 RH Map	11	249.86	UniSTS
NCBI RH Map	11	573.2	UniSTS

IB1075

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	65,633,971 - 65,634,124	UniSTS	GRCh37
Build 36	11	65,390,547 - 65,390,700	RGD	NCBI36
Celera	11	62,957,877 - 62,958,030	RGD
Cytogenetic Map	11	q13.1	UniSTS
Cytogenetic Map	11	q13	UniSTS
HuRef	11	61,960,488 - 61,960,641	UniSTS
GeneMap99-GB4 RH Map	11	242.84	UniSTS
Whitehead-RH Map	11	328.7	UniSTS
NCBI RH Map	11	573.2	UniSTS

D11S2297E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	65,633,718 - 65,633,817	UniSTS	GRCh37
Build 36	11	65,390,294 - 65,390,393	RGD	NCBI36
Celera	11	62,957,624 - 62,957,723	RGD
Cytogenetic Map	11	q13.1	UniSTS
Cytogenetic Map	11	q13	UniSTS
HuRef	11	61,960,235 - 61,960,334	UniSTS
GeneMap99-GB4 RH Map	11	242.54	UniSTS
NCBI RH Map	11	573.2	UniSTS

STS-R09524

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	65,633,946 - 65,634,172	UniSTS	GRCh37
Build 36	11	65,390,522 - 65,390,748	RGD	NCBI36
Celera	11	62,957,852 - 62,958,078	RGD
Cytogenetic Map	11	q13.1	UniSTS
Cytogenetic Map	11	q13	UniSTS
HuRef	11	61,960,463 - 61,960,689	UniSTS
GeneMap99-GB4 RH Map	11	250.74	UniSTS

STS-H53813

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	11	q13.1	UniSTS
GeneMap99-GB4 RH Map	11	242.84	UniSTS
NCBI RH Map	11	573.2	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	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2436	2788	2249	4968	1726	2350	6	624	1942	465	2268	7295	6462	53	3731	1	852	1744	1616	174	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_012304	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_016938	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_037718	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB030655	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB209121	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF093119	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF109121	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF124486	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ132819	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK000980	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK075453	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK095794	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK098186	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK292079	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK315181	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP001201	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY358899	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC010456	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC018871	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC109225	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BP382163	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ478413	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ639195	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CB050184	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471076	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR541934	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB475347	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000307998 ⟹ ENSP00000309953

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	65,866,441 - 65,872,800 (-)	Ensembl

Ensembl Acc Id:

ENST00000524408 ⟹ ENSP00000432191

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	65,866,448 - 65,867,906 (-)	Ensembl

Ensembl Acc Id:

ENST00000525392

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	65,867,673 - 65,868,429 (-)	Ensembl

Ensembl Acc Id:

ENST00000526624 ⟹ ENSP00000435419

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	65,870,121 - 65,872,654 (-)	Ensembl

Ensembl Acc Id:

ENST00000526628

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	65,866,442 - 65,869,922 (-)	Ensembl

Ensembl Acc Id:

ENST00000526911 ⟹ ENSP00000436536

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	65,866,447 - 65,868,007 (-)	Ensembl

Ensembl Acc Id:

ENST00000527277 ⟹ ENSP00000431305

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	65,866,441 - 65,867,080 (-)	Ensembl

Ensembl Acc Id:

ENST00000527378 ⟹ ENSP00000435963

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	65,870,179 - 65,873,592 (-)	Ensembl

Ensembl Acc Id:

ENST00000527969

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	65,868,480 - 65,871,202 (-)	Ensembl

Ensembl Acc Id:

ENST00000528176 ⟹ ENSP00000434151

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	65,866,447 - 65,872,743 (-)	Ensembl

Ensembl Acc Id:

ENST00000528409

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	65,866,825 - 65,868,512 (-)	Ensembl

Ensembl Acc Id:

ENST00000529870

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	65,871,416 - 65,872,772 (-)	Ensembl

Ensembl Acc Id:

ENST00000530806 ⟹ ENSP00000436526

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	65,866,979 - 65,868,536 (-)	Ensembl

Ensembl Acc Id:

ENST00000530850 ⟹ ENSP00000437238

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	65,870,216 - 65,872,740 (-)	Ensembl

Ensembl Acc Id:

ENST00000531005

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	65,867,890 - 65,872,019 (-)	Ensembl

Ensembl Acc Id:

ENST00000531645 ⟹ ENSP00000436521

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	65,866,447 - 65,868,416 (-)	Ensembl

Ensembl Acc Id:

ENST00000531972 ⟹ ENSP00000435295

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	65,866,441 - 65,872,811 (-)	Ensembl

Ensembl Acc Id:

ENST00000532084

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	65,867,886 - 65,869,512 (-)	Ensembl

Ensembl Acc Id:

ENST00000532648

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	65,866,565 - 65,867,667 (-)	Ensembl

Ensembl Acc Id:

ENST00000533347 ⟹ ENSP00000435823

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	65,869,857 - 65,872,942 (-)	Ensembl

RefSeq Acc Id:

NM_016938 ⟹ NP_058634

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	65,866,441 - 65,872,800 (-)	NCBI
GRCh37	11	65,633,912 - 65,640,405 (-)	ENTREZGENE
Build 36	11	65,390,488 - 65,396,852 (-)	NCBI Archive
HuRef	11	61,960,429 - 61,966,923 (-)	ENTREZGENE
CHM1_1	11	65,518,326 - 65,524,819 (-)	NCBI
T2T-CHM13v2.0	11	65,860,912 - 65,867,272 (-)	NCBI

Sequence:

show sequence

GCTTCCTGGGGCCGCGCGTCCAGGGAGCTGTGCCGTCCGCCCGTCCGTCTGCCCGCAGGCATTG
CCCGAGCCAGCCGAGCCGCCAGAGCCGCGGGCCGCGGGGGTGTCGCGGGCCCAACCCCAGGATG
CTCCCCTGCGCCTCCTGCCTACCCGGGTCTCTACTGCTCTGGGCGCTGCTACTGTTGCTCTTGG
GATCAGCTTCTCCTCAGGATTCTGAAGAGCCCGACAGCTACACGGAATGCACAGATGGCTATGA
GTGGGACCCAGACAGCCAGCACTGCCGGGATGTCAACGAGTGTCTGACCATCCCTGAGGCCTGC
AAGGGGGAAATGAAGTGCATCAACCACTACGGGGGCTACTTGTGCCTGCCCCGCTCCGCTGCCG
TCATCAACGACCTACACGGCGAGGGACCCCCGCCACCAGTGCCTCCCGCTCAACACCCCAACCC
CTGCCCACCAGGCTATGAGCCCGACGATCAGGACAGCTGTGTGGATGTGGACGAGTGTGCCCAG
GCCCTGCACGACTGTCGCCCCAGCCAGGACTGCCATAACTTGCCTGGCTCCTATCAGTGCACCT
GCCCTGATGGTTACCGCAAGATCGGGCCCGAGTGTGTGGACATAGACGAGTGCCGCTACCGCTA
CTGCCAGCACCGCTGCGTGAACCTGCCTGGCTCCTTCCGCTGCCAGTGCGAGCCGGGCTTCCAG
CTGGGGCCTAACAACCGCTCCTGTGTTGATGTGAACGAGTGTGACATGGGGGCCCCATGCGAGC
AGCGCTGCTTCAACTCCTATGGGACCTTCCTGTGTCGCTGCCACCAGGGCTATGAGCTGCATCG
GGATGGCTTCTCCTGCAGTGATATTGATGAGTGTAGCTACTCCAGCTACCTCTGTCAGTACCGC
TGCATCAACGAGCCAGGCCGTTTCTCCTGCCACTGCCCACAGGGTTACCAGCTGCTGGCCACAC
GCCTCTGCCAAGACATTGATGAGTGTGAGTCTGGTGCGCACCAGTGCTCCGAGGCCCAAACCTG
TGTCAACTTCCATGGGGGCTACCGCTGCGTGGACACCAACCGCTGCGTGGAGCCCTACATCCAG
GTCTCTGAGAACCGCTGTCTCTGCCCGGCCTCCAACCCTCTATGTCGAGAGCAGCCTTCATCCA
TTGTGCACCGCTACATGACCATCACCTCGGAGCGGAGCGTGCCCGCTGACGTGTTCCAGATCCA
GGCGACCTCCGTCTACCCCGGTGCCTACAATGCCTTTCAGATCCGTGCTGGAAACTCGCAGGGG
GACTTTTACATTAGGCAAATCAACAACGTCAGCGCCATGCTGGTCCTCGCCCGGCCGGTGACGG
GCCCCCGGGAGTACGTGCTGGACCTGGAGATGGTCACCATGAATTCCCTCATGAGCTACCGGGC
CAGCTCTGTACTGAGGCTCACCGTCTTTGTAGGGGCCTACACCTTCTGAGGAGCAGGAGGGAGC
CACCCTCCCTGCAGCTACCCTAGCTGAGGAGCCTGTTGTGAGGGGCAGAATGAGAAAGGCAATA
AAGGGAGAAAGAAAGTCCTGGTGGCTGAGGTGGGCGGGTCACACTGCAGGAAGCCTCAGGCTGG
GGCAGGGTGGCACTTGGGGGGGCAGGCCAAGTTCACCTAAATGGGGGTCTCTATATGTTCAGGC
CCAGGGGCCCCCATTGACAGGAGCTGGGAGCTCTGCACCACGAGCTTCAGTCACCCCGAGAGGA
GAGGAGGTAACGAGGAGGGCGGACTCCAGGCCCCGGCCCAGAGATTTGGACTTGGCTGGCTTGC
AGGGGTCCTAAGAAACTCCACTCTGGACAGCGCCAGGAGGCCCTGGGTTCCATTCCTAACTCTG
CCTCAAACTGTACATTTGGATAAGCCCTAGTAGTTCCCTGGGCCTGTTTTTCTATAAAACGAGG
CAACTGGACTGTTA

hide sequence

RefSeq Acc Id:

NR_037718

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	65,866,441 - 65,872,800 (-)	NCBI
GRCh37	11	65,633,912 - 65,640,405 (-)	ENTREZGENE
HuRef	11	61,960,429 - 61,966,923 (-)	ENTREZGENE
CHM1_1	11	65,518,326 - 65,524,819 (-)	NCBI
T2T-CHM13v2.0	11	65,860,912 - 65,867,272 (-)	NCBI

Sequence:

show sequence

GCTTCCTGGGGCCGCGCGTCCAGGGAGCTGTGCCGTCCGCCCGTCCGTCTGCCCGCAGGCATTG
CCCGAGCCAGCCGAGCCGCCAGAGCCGCGGGCCGCGGGGGTGTCGCGGGCCCAACCCCAGGATG
CTCCCCTGCGCCTCCTGCCTACCCGGGTCTCTACTGCTCTGGGCGCTGCTACTGTTGCTCTTGG
GATCAGCTTCTCCTCAGGATTCTGAAGAGCCCGACAGCTACACGGAATGCACAGATGGCTATGA
GTGGGACCCAGACAGCCAGCACTGCCGGGATGTCAACGAGTGTCTGACCATCCCTGAGGCCTGC
AAGGGGGAAATGAAGTGCATCAACCACTACGGGGGCTACTTGTGCCTGCCCCGCTCCGCTGCCG
TCATCAACGACCTACACGGCGAGGGACCCCCGCCACCAGTGCCTCCCGCTCAACACCCCAACCC
CTGCCCACCAGGCTATGAGCCCGACGATCAGGACAGCTGTGTGGATGTGGACGAGTGTGCCCAG
GCCCTGCACGACTGTCGCCCCAGCCAGGACTGCCATAACTTGCCTGGCTCCTATCAGTGCACCT
GCCCTGATGGTTACCGCAAGATCGGGCCCGAGTGTGTGGACATAGACGAGTGCCGCTACCGCTA
CTGCCAGCACCGCTGCGTGAACCTGCCTGGCTCCTTCCGCTGCCAGTGCGAGCCGGGCTTCCAG
CTGGGGCCTAACAACCGCTCCTGTGTTGATGTGAACGAGTGTGACATGGGGGCCCCATGCGAGC
AGCGCTGCTTCAACTCCTATGGGACCTTCCTGTGTCGCTGCCACCAGGGCTATGAGCTGCATCG
GGATGGCTTCTCCTGCAGTGATATTGATGAGTGTAGCTACTCCAGCTACCTCTGTCAGTACCGC
TGCATCAACGAGCCAGGCCGTTTCTCCTGCCACTGCCCACAGGGTTACCAGCTGCTGGCCACAC
GCCTCTGCCAAGACATTGATGAGTGTGAGTCTGGTGCGCACCAGTGCTCCGAGGCCCAAACCTG
TGTCAACTTCCATGGGGGCTACCGCTGCGTGGACACCAACCGCTGCGTGGAGCCCTACATCCAG
GTCTCTGAGAACCGCTGTCTCTGCCCGGCCTCCAACCCTCTATGTCGAGAGCAGCCTTCATCCA
TTGTGCACCGCTACATGACCATCACCTCGGAGCGGAGCGTGCCCGCTGACGTGTTCCAGATCCA
GGCGACCTCCGTCTACCCCGGTGCCTACAATGCCTTTCAGATCCGTGCTGGAAACTCGCAGGGG
GACTTTTACATTAGGCAAATCAACAACGTCAGCGCCATGCTGGTCCTCGCCCGGCCGGTGACGG
GCCCCCGGGAGTACGTGCTGGACCTGGAGATGGTCACCATGAATTCCCTCATGAGCTACCGGGC
CAGCTCTGTACTGAGGCTCACCGTCTTTGTAGGGGCCTACACCTTCTGAGGAGCAGGAGGGAGC
CACCCTCCCTGCAGCTACCCTAGCTGAGGAGCCTGTTGTGAGGGGCAGAATGAGAAAGGCCCAG
GGGCCCCCATTGACAGGAGCTGGGAGCTCTGCACCACGAGCTTCAGTCACCCCGAGAGGAGAGG
AGGTAACGAGGAGGGCGGACTCCAGGCCCCGGCCCAGAGATTTGGACTTGGCTGGCTTGCAGGG
GTCCTAAGAAACTCCACTCTGGACAGCGCCAGGAGGCCCTGGGTTCCATTCCTAACTCTGCCTC
AAACTGTACATTTGGATAAGCCCTAGTAGTTCCCTGGGCCTGTTTTTCTATAAAACGAGGCAAC
TGGACTGTTA

hide sequence

Protein Sequences


Protein RefSeqs	NP_058634	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC62108	(Get FASTA)	NCBI Sequence Viewer
	AAF65188	(Get FASTA)	NCBI Sequence Viewer
	AAG45245	(Get FASTA)	NCBI Sequence Viewer
	AAH10456	(Get FASTA)	NCBI Sequence Viewer
	AAQ89258	(Get FASTA)	NCBI Sequence Viewer
	BAA92880	(Get FASTA)	NCBI Sequence Viewer
	BAD92358	(Get FASTA)	NCBI Sequence Viewer
	BAF84768	(Get FASTA)	NCBI Sequence Viewer
	BAG37622	(Get FASTA)	NCBI Sequence Viewer
	BAG50843	(Get FASTA)	NCBI Sequence Viewer
	BAG52143	(Get FASTA)	NCBI Sequence Viewer
	CAA10791	(Get FASTA)	NCBI Sequence Viewer
	CAG46732	(Get FASTA)	NCBI Sequence Viewer
	EAW74455	(Get FASTA)	NCBI Sequence Viewer
	EAW74456	(Get FASTA)	NCBI Sequence Viewer
	EAW74457	(Get FASTA)	NCBI Sequence Viewer
	EAW74458	(Get FASTA)	NCBI Sequence Viewer
	EAW74459	(Get FASTA)	NCBI Sequence Viewer
	EAW74460	(Get FASTA)	NCBI Sequence Viewer
	EAW74461	(Get FASTA)	NCBI Sequence Viewer
	EAW74462	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000309953
	ENSP00000309953.6
	ENSP00000431305.1
	ENSP00000432191.1
	ENSP00000434151.1
	ENSP00000435295.1
	ENSP00000435419.1
	ENSP00000435823.1
	ENSP00000435963.1
	ENSP00000436521.1
	ENSP00000436526.1
	ENSP00000436536.1
	ENSP00000437238.1
GenBank Protein	O95967	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_058634 ⟸ NM_016938
- Peptide Label:	precursor
- UniProtKB:	B3KQT1 (UniProtKB/Swiss-Prot), B3KM31 (UniProtKB/Swiss-Prot), A8K7R4 (UniProtKB/Swiss-Prot), O75967 (UniProtKB/Swiss-Prot), O95967 (UniProtKB/Swiss-Prot), B2RCM5 (UniProtKB/TrEMBL), Q6FH22 (UniProtKB/TrEMBL), Q96TF5 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLPCASCLPGSLLLWALLLLLLGSASPQDSEEPDSYTECTDGYEWDPDSQHCRDVNECLTIPEA CKGEMKCINHYGGYLCLPRSAAVINDLHGEGPPPPVPPAQHPNPCPPGYEPDDQDSCVDVDECA QALHDCRPSQDCHNLPGSYQCTCPDGYRKIGPECVDIDECRYRYCQHRCVNLPGSFRCQCEPGF QLGPNNRSCVDVNECDMGAPCEQRCFNSYGTFLCRCHQGYELHRDGFSCSDIDECSYSSYLCQY RCINEPGRFSCHCPQGYQLLATRLCQDIDECESGAHQCSEAQTCVNFHGGYRCVDTNRCVEPYI QVSENRCLCPASNPLCREQPSSIVHRYMTITSERSVPADVFQIQATSVYPGAYNAFQIRAGNSQ GDFYIRQINNVSAMLVLARPVTGPREYVLDLEMVTMNSLMSYRASSVLRLTVFVGAYTF hide sequence

Ensembl Acc Id:

ENSP00000309953 ⟸ ENST00000307998

Ensembl Acc Id:

ENSP00000436526 ⟸ ENST00000530806

Ensembl Acc Id:

ENSP00000437238 ⟸ ENST00000530850

Ensembl Acc Id:

ENSP00000435295 ⟸ ENST00000531972

Ensembl Acc Id:

ENSP00000436521 ⟸ ENST00000531645

Ensembl Acc Id:

ENSP00000435823 ⟸ ENST00000533347

Ensembl Acc Id:

ENSP00000432191 ⟸ ENST00000524408

Ensembl Acc Id:

ENSP00000435419 ⟸ ENST00000526624

Ensembl Acc Id:

ENSP00000436536 ⟸ ENST00000526911

Ensembl Acc Id:

ENSP00000435963 ⟸ ENST00000527378

Ensembl Acc Id:

ENSP00000431305 ⟸ ENST00000527277

Ensembl Acc Id:

ENSP00000434151 ⟸ ENST00000528176

Protein Domains

EGF-like Fibulin C-terminal Ig-like NOTCH1 EGF-like calcium-binding

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O95967-F1-model_v2	AlphaFold	O95967	1-443	view protein structure

Promoters

RGD ID:

6809984

Promoter ID:

HG_ACW:12685

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

EFEMP2.GAPR07, EFEMP2.IAPR07, EFEMP2.JAPR07, EFEMP2.MAPR07-UNSPLICED, EFEMP2.NAPR07, EFEMP2.OAPR07

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	11	65,392,771 - 65,393,271 (-)	MPROMDB

RGD ID:

6809983

Promoter ID:

HG_ACW:12686

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

EFEMP2.KAPR07

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	11	65,393,571 - 65,394,071 (-)	MPROMDB

RGD ID:

6814492

Promoter ID:

HG_XEF:1461

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562, NB4

Transcripts:

NM_001008587, NM_001140059

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	11	65,395,226 - 65,396,212 (-)	MPROMDB

RGD ID:

6850666

Promoter ID:

EP73127

Type:

initiation region

Name:

HS_EFEMP2

Description:

EGF-containing fibulin-like extracellular matrix protein 2.

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

NEDO full length human cDNA sequencing project.; Oligo-capping

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	11	65,396,818 - 65,396,878	EPD

RGD ID:

6788727

Promoter ID:

HG_KWN:13367

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

NM_016938, UC001OFZ.2, UC001OGA.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	11	65,396,911 - 65,397,732 (-)	MPROMDB

RGD ID:

7221071

Promoter ID:

EPDNEW_H16282

Type:

initiation region

Name:

EFEMP2_2

Description:

EGF containing fibulin like extracellular matrix protein 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H16283 EPDNEW_H16284

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	65,871,294 - 65,871,354	EPDNEW

RGD ID:

7221073

Promoter ID:

EPDNEW_H16283

Type:

initiation region

Name:

EFEMP2_1

Description:

EGF containing fibulin like extracellular matrix protein 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H16282 EPDNEW_H16284

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	65,872,800 - 65,872,860	EPDNEW

RGD ID:

7221075

Promoter ID:

EPDNEW_H16284

Type:

initiation region

Name:

EFEMP2_3

Description:

EGF containing fibulin like extracellular matrix protein 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H16282 EPDNEW_H16283

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	65,873,607 - 65,873,667	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:3219	AgrOrtholog
COSMIC	EFEMP2	COSMIC
Ensembl Genes	ENSG00000172638	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000307998	ENTREZGENE
	ENST00000307998.11	UniProtKB/Swiss-Prot
	ENST00000524408.1	UniProtKB/TrEMBL
	ENST00000526624.5	UniProtKB/TrEMBL
	ENST00000526911.1	UniProtKB/TrEMBL
	ENST00000527277.5	UniProtKB/TrEMBL
	ENST00000527378.1	UniProtKB/TrEMBL
	ENST00000528176	ENTREZGENE
	ENST00000528176.5	UniProtKB/TrEMBL
	ENST00000530806.5	UniProtKB/TrEMBL
	ENST00000530850.1	UniProtKB/TrEMBL
	ENST00000531645.5	UniProtKB/TrEMBL
	ENST00000531972.5	UniProtKB/Swiss-Prot
	ENST00000533347.5	UniProtKB/TrEMBL
Gene3D-CATH	Laminin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000172638	GTEx
HGNC ID	HGNC:3219	ENTREZGENE
Human Proteome Map	EFEMP2	Human Proteome Map
InterPro	cEGF	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ECM_structural_protein	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EGF-like_Ca-bd_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EGF-like_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EGF-like_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EGF-type_Asp/Asn_hydroxyl_site	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EGF_Ca-bd_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Fibulin_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Growth_fac_rcpt_cys_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	NOTCH1_EGF-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:30008	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	30008	ENTREZGENE
OMIM	604633	OMIM
PANTHER	EGF-CONTAINING FIBULIN-LIKE EXTRACELLULAR MATRIX PROTEIN 2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EGF-LIKE DOMAIN-CONTAINING PROTEIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	VACUOLAR-SORTING RECEPTOR 1	UniProtKB/TrEMBL
Pfam	cEGF	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EGF_CA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Fibulin_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	hEGF	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA27653	PharmGKB
PRINTS	THRMBOMODULN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	ASX_HYDROXYL	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EGF_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EGF_3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EGF_CA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	EGF	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EGF_CA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	EGF/Laminin	UniProtKB/TrEMBL
	SSF57184	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A8K7R4	ENTREZGENE
	B2RCM5	ENTREZGENE, UniProtKB/TrEMBL
	B3KM31	ENTREZGENE
	B3KQT1	ENTREZGENE
	E9PI47_HUMAN	UniProtKB/TrEMBL
	E9PKA3_HUMAN	UniProtKB/TrEMBL
	E9PNB8_HUMAN	UniProtKB/TrEMBL
	E9PRQ8_HUMAN	UniProtKB/TrEMBL
	E9PRU1_HUMAN	UniProtKB/TrEMBL
	E9PSC1_HUMAN	UniProtKB/TrEMBL
	FBLN4_HUMAN	UniProtKB/Swiss-Prot
	H0YCB5_HUMAN	UniProtKB/TrEMBL
	H0YCR9_HUMAN	UniProtKB/TrEMBL
	H0YET5_HUMAN	UniProtKB/TrEMBL
	H0YEU0_HUMAN	UniProtKB/TrEMBL
	O75967	ENTREZGENE
	O95967	ENTREZGENE
	Q6FH22	ENTREZGENE, UniProtKB/TrEMBL
	Q96TF5	ENTREZGENE, UniProtKB/TrEMBL
	Q9H3D5_HUMAN	UniProtKB/TrEMBL
UniProt Secondary	A8K7R4	UniProtKB/Swiss-Prot
	B3KM31	UniProtKB/Swiss-Prot
	B3KQT1	UniProtKB/Swiss-Prot
	O75967	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2017-10-17	EFEMP2	EGF containing fibulin extracellular matrix protein 2	EFEMP2	EGF containing fibulin like extracellular matrix protein 2	Symbol and/or name change	5135510	APPROVED
2016-05-17	EFEMP2	EGF containing fibulin like extracellular matrix protein 2	EFEMP2	EGF containing fibulin-like extracellular matrix protein 2	Symbol and/or name change	5135510	APPROVED
2011-07-27	EFEMP2	EGF containing fibulin-like extracellular matrix protein 2	EFEMP2	EGF-containing fibulin-like extracellular matrix protein 2	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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