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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Bone Diseases, Developmental (D001848)
Parent Node: Connective Tissue Diseases (D003240)
Parent Node: Genetic Diseases, Inborn (D030342)
Parent Node: Heart Defects, Congenital (D006330)
..Starting node ..Marfan Syndrome (D008382)
Child Nodes:
........Cutis Laxa-Marfanoid Syndrome (C563639)
........Furlong syndrome (C538192)
........Lujan Fryns syndrome (C537724)
........Marfan Syndrome type 2 (C535911)
........Marfanoid Habitus with Microcephaly and Glomerulonephritis (C565411)
........Marfanoid Habitus with Situs Inversus (C563814)
........Marfanoid hypermobility syndrome (C531742)
........Marfanoid Mental Retardation Syndrome, Autosomal (C565410)
........Shprintzen Golberg craniosynostosis (C537328)
Sister Nodes:
..22q11 Deletion Syndrome (D058165) 5
..Aarskog Syndrome (C535331) 1
..Al Gazali Aziz Salem syndrome (C535613)
..Alagille Syndrome (D016738)
..Amastia, Bilateral, With Ureteral Triplication And Dysmorphism (C566295)
..Aortic Coarctation (D001017) 3
..Aortic Valve Disease (C563178) 1
..Aplasia Cutis Congenita, Congenital Heart Defect, And Frontonasal Cysts (C566997)
..Arrhythmogenic Right Ventricular Dysplasia (D019571) 13
..Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529)
..Baetz-Greenwalt syndrome (C537795)
..Barth Syndrome (D056889) 2
..BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..Beemer Ertbruggen syndrome (C537668)
..Bixler Christian Gorlin syndrome (C537632)
..Blepharophimosis syndrome Ohdo type (C536232)
..Bonneau Syndrome (C564875)
..Burn-Mckeown syndrome (C537411)
..Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies (C563414)
..Cardiac Valvular Defect, Developmental (C565882)
..Cardiac valvular dysplasia, X-linked (C535576)
..Cardioauditory syndrome of Sanchez Cascos (C535577)
..Cardiocranial syndrome (C535578)
..Cardiofaciocutaneous syndrome (C535579)
..Chromosome 1q21.1 Duplication Syndrome (C567290)
..Chromosome 6pter-P24 Deletion Syndrome (C567239)
..Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
..Congenital Heart Defects, X-Linked (C567444)
..Conotruncal cardiac defects (C535464) 1
..Cor Triatriatum (D003310)
..Coronary Vessel Anomalies (D003330) 3
..Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..Cranioacrofacial Syndrome (C565147)
..Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)
..Craniofaciofrontodigital Syndrome (C567298)
..Crisscross Heart (D003420)
..Deafness, Congenital Heart Defects, and Posterior Embryotoxon (C566604)
..Dextrocardia (D003914) 10
..Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature (C565092)
..Ductus Arteriosus, Patent (D004374) 6
..Ebstein Anomaly (D004437)
..Ectopia Cordis (D054083)
..Ectrodactyly cardiopathy dysmorphism (C536187)
..Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia (C563344)
..Eisenmenger Complex (D004541)
..Ellis Yale Winter syndrome (C536205)
..Emanuel syndrome (C535733)
..Faciocardiomelic Dysplasia, Lethal (C565578)
..Faciocardiomelic Syndrome (C567176)
..Faciocardiorenal syndrome (C536388)
..Familial anomalous origin of right pulmonary artery (C535681)
..Fragile Site 16p12 (C565001)
..Frontoocular Syndrome (C565340)
..Gay Feinmesser Cohen syndrome (C537676)
..Genito palato cardiac syndrome (C537683)
..Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia (C565755)
..Heart defects limb shortening (C535850)
..Heart Septal Defects (D006343) 47
..Heart-hand syndrome, Slovenian type (C535852)
..Heart-hand syndrome, Spanish type (C535853)
..Hecht Scott syndrome (C535856)
..Heterotaxy Syndrome (D059446) 7
..Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly (C565817)
..Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction (C563939)
..Hittner Hirsch Kreh syndrome (C538323)
..Ho Kaufman Mcalister syndrome (C538325)
..Holt-Oram syndrome (C535326)
..Holzgreve Wagner Rehder syndrome (C535327)
..Hydrolethalus syndrome (C536079)
..Hypoplastic Left Heart Syndrome (D018636)
..Isolated Noncompaction of the Ventricular Myocardium (D056830) 5
..Jarcho-Levin syndrome (C537565) 1
..Kasznica Carlson Coppedge syndrome (C537011)
..Kleefstra Syndrome (C563043)
..LEOPARD Syndrome (D044542) 2
..Levocardia (D007979)
..Long QT Syndrome (D008133) 20
..Lowry Maclean syndrome (C537037)
..Malpuech facial clefting syndrome (C535704)
..Marcus Gunn phenomenon (C535908)
..Marfan Syndrome (D008382) 9
..McDonough syndrome (C538158)
..McKusick Kaufman syndrome (C538159)
..McPherson Clemens syndrome (C538160)
..Meacham Syndrome (C563821)
..Mehta Lewis Patton syndrome (C536147)
..Mexican Cardiomelic Dysplasia (C563087)
..Microcephaly seizures mental retardation heart disorders (C537544)
..Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs (C563341)
..Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects (C564690)
..Noonan Syndrome (D009634) 12
..Orstavik Lindemann Solberg syndrome (C537137)
..Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease (C564011)
..Pilotto syndrome (C537400)
..Powell Chandra Saal syndrome (C538357)
..Pseudodiastrophic dysplasia (C535826)
..Pulmonary Atresia with Intact Ventricular Septum (C562832)
..Right ventricle hypoplasia (C535682)
..Rommen Mueller Sybert syndrome (C535871)
..Saal Bulas syndrome (C537193)
..Sacral meningocele conotruncal heart defects (C537223)
..Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities (C564262)
..Short QT Syndrome 1 (C566506)
..Short QT Syndrome 2 (C566505)
..Short QT Syndrome 3 (C566504)
..Simpson-Golabi-Behmel syndrome (C537340)
..Sonoda syndrome (C536680)
..Steinfeld Syndrome (C566655)
..Stratton-Parker Syndrome (C566105)
..Subaortic Stenosis, Membranous (C564793)
..Tabatznik syndrome (C536784)
..Tamari Goodman syndrome (C536896)
..TARP syndrome (C536942)
..Ter Haar syndrome (C537274)
..Tetralogy of Fallot (D013771) 4
..Thomas syndrome (C536514)
..Transposition of Great Vessels (D014188) 5
..Tricuspid Atresia (D018785) 1
..Trilogy of Fallot (D014286)
..Turner Syndrome (D014424) 2
..Uhl anomaly (C536932)
..VACTERL association (C536495)
..VACTERL association with hydrocephaly, X-linked (C536520)
..VACTERL hydrocephaly (C536521)
..VATER association (C536534)
..Vater Association With Hydrocephalus (C564752)
..Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency (C564244)
..Ventricular extrasystoles perodactyly Robin sequence (C536537)
..Verloove-Vanhorick Brubakk syndrome (C536541)
..Wolff-Parkinson-White Syndrome (D014927)
..Young Simpson syndrome (C536717)
..Zunich neuroectodermal syndrome (C536729)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6793

Name:

Marfan Syndrome

Definition:

An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE, dilation of the AORTA, and aortic dissection. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome is associated with mutations in the gene encoding fibrillin, a major element of extracellular microfibrils of connective tissue.

Alternative IDs:

OMIM:154700

ParentIDs:

MESH:D000015|MESH:D001848|MESH:D003240|MESH:D006330|MESH:D030342

TreeNumbers:

C05.116.099.674 |C14.240.400.725 |C14.280.400.725 |C16.131.077.550 |C16.131.240.400.720 |C16.320.540 |C17.300.500

Synonyms:

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease

Reference:

MedGen: D008382
MeSH: D008382
OMIM: 154700;

Genes: FBN1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002647	Aortic dissection
3	HP:0001659	Aortic regurgitation
4	HP:0002616	Aortic root aneurysm
5	HP:0001166	Arachnodactyly
6	HP:0004970	Ascending tubular aorta aneurysm
7	HP:0000518	Cataract
8	HP:0001635	Congestive heart failure
9	HP:0003199	Decreased muscle mass
10	HP:0000490	Deeply set eye
11	HP:0000678	Dental crowding
12	HP:0000268	Dolichocephaly
13	HP:0000494	Downslanted palpebral fissures
14	HP:0100775	Dural ectasia
15	HP:0001083	Ectopia lentis
16	HP:0002097	Emphysema	HP:0040283
17	HP:0000565	Esotropia	HP:0040283
18	HP:0000577	Exotropia	HP:0040283
19	HP:0001371	Flexion contracture
20	HP:0002816	Genu recurvatum
21	HP:0000501	Glaucoma
22	HP:0001765	Hammertoe
23	HP:0000218	High palate
24	HP:0007676	Hypoplasia of the iris
25	HP:0004872	Incisional hernia
26	HP:0007800	Increased axial length of the globe
27	HP:0001382	Joint hypermobility
28	HP:0002751	Kyphoscoliosis
29	HP:0000276	Long face
30	HP:0000272	Malar flattening
31	HP:0008132	Medial rotation of the medial malleolus
32	HP:0000347	Micrognathia
33	HP:0005136	Mitral annular calcification
34	HP:0001653	Mitral regurgitation
35	HP:0001634	Mitral valve prolapse
36	HP:0000545	Myopia
37	HP:0000275	Narrow face
38	HP:0000189	Narrow palate
39	HP:0000768	Pectus carinatum
40	HP:0000767	Pectus excavatum
41	HP:0001761	Pes cavus
42	HP:0001763	Pes planus
43	HP:0002107	Pneumothorax
44	HP:0003088	Premature osteoarthritis
45	HP:0003179	Protrusio acetabuli
46	HP:0004927	Pulmonary artery dilatation
47	HP:0003758	Reduced subcutaneous adipose tissue
48	HP:0000541	Retinal detachment
49	HP:0000278	Retrognathia
50	HP:0003302	Spondylolisthesis
51	HP:0001065	Striae distensae
52	HP:0000098	Tall stature
53	HP:0001704	Tricuspid valve prolapse

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000093.4(COL5A1):c.5217C>A (p.His1739Gln)	-1	-	Uncertain significance	869025374	RCV000208424;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	9	137726897	137726897	NM_000093.4:c.5217C>A	NP_000084.3:p.His1739Gln	NC_000009.11:g.137726897C>A	-	C0024796 154700 Marfan syndrome
NM_000090.3(COL3A1):c.3326G>A (p.Arg1109Gln)	1281	COL3A1	Uncertain significance	730880062	RCV000157141;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	2	189872296	189872296	NM_000090.3:c.3326G>A	NP_000081.1:p.Arg1109Gln	NC_000002.11:g.189872296G>A	-	C0024796 154700 Marfan syndrome
NM_000393.3(COL5A2):c.3794A>G (p.Asp1265Gly)	1290	COL5A2	Uncertain significance	200325397	RCV000157152;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	2	189904129	189904129	NM_000393.3:c.3794A>G	NP_000384.2:p.Asp1265Gly	NC_000002.11:g.189904129T>C	-	C0024796 154700 Marfan syndrome
NM_000393.3(COL5A2):c.463C>T (p.Arg155Cys)	1290	COL5A2	Uncertain significance	767252151	RCV000208436;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	2	189957140	189957140	NM_000393.3:c.463C>T	NP_000384.2:p.Arg155Cys	NC_000002.11:g.189957140G>A	-	C0024796 154700 Marfan syndrome
NM_000393.3(COL5A2):c.407C>T (p.Pro136Leu)	1290	COL5A2	Uncertain significance	863223502	RCV000208065; RCV000197118;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN169374	2	189962052	189962052	NM_000393.3:c.407C>T	NP_000384.2:p.Pro136Leu	NC_000002.11:g.189962052G>A	-	C0024796 154700 Marfan syndrome; CN169374 not specified
NM_000138.4(FBN1):c.8605_8606delTT (p.Leu2869Alafs)	2200	FBN1	Likely pathogenic	397515866	RCV000035293;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48703197	48703198	NM_000138.4:c.8605_8606delTT	NP_000129.3:p.Leu2869Alafs	NC_000015.9:g.48703197_48703198delAA	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.8600A>C (p.Gln2867Pro)	2200	FBN1	Likely pathogenic	397515865	RCV000035292;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48703203	48703203	NM_000138.4:c.8600A>C	NP_000129.3:p.Gln2867Pro	NC_000015.9:g.48703203T>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.8521G>T (p.Glu2841Ter)	2200	FBN1	Pathogenic	587782948	RCV000143895;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48703282	48703282	NM_000138.4:c.8521G>T	NP_000129.3:p.Glu2841Ter	NC_000015.9:g.48703282C>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.8502T>C (p.Thr2834=)	2200	FBN1	Benign	363847	RCV000029795; RCV000154577;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN169374	15	48703301	48703301	NM_000138.4:c.8502T>C	NP_000129.3:p.Thr2834=	NC_000015.9:g.48703301A>G	-	C0024796 154700 Marfan syndrome; CN169374 not specified
NM_000138.4(FBN1):c.8494A>G (p.Ser2832Gly)	2200	FBN1	Uncertain significance	376933421	RCV000148490;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48703309	48703309	NM_000138.4:c.8494A>G	NP_000129.3:p.Ser2832Gly	NC_000015.9:g.48703309T>C	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.8483C>G (p.Ser2828Ter)	2200	FBN1	Likely pathogenic	397515864	RCV000035291;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48703320	48703320	NM_000138.4:c.8483C>G	NP_000129.3:p.Ser2828Ter	NC_000015.9:g.48703320G>C	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.8473_8475delGGA (p.Gly2825del)	2200	FBN1	Likely pathogenic	727504454	RCV000155431;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48703328	48703330	NM_000138.4:c.8473_8475delGGA	NP_000129.3:p.Gly2825del	NC_000015.9:g.48703328_48703330delTCC	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.8412_8417delTAAAAT (p.Lys2805_Ile2806del)	2200	FBN1	Likely pathogenic	193922246	RCV000029794;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48703386	48703391	NM_000138.4:c.8412_8417delTAAAAT	NP_000129.3:p.Lys2805_Ile2806del	NC_000015.9:g.48703386_48703391delATTTTA	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.8378A>G (p.Tyr2793Cys)	2200	FBN1	Likely pathogenic	397515863	RCV000035289;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48703425	48703425	NM_000138.4:c.8378A>G	NP_000129.3:p.Tyr2793Cys	NC_000015.9:g.48703425T>C	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.8339T>C (p.Leu2780Pro)	2200	FBN1	Likely pathogenic	869025417	RCV000208125;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48703464	48703464	NM_000138.4:c.8339T>C	NP_000129.3:p.Leu2780Pro	NC_000015.9:g.48703464A>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.8326C>T (p.Arg2776Ter)	2200	FBN1	Pathogenic	137854466	RCV000017901; RCV000181630;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN221809	15	48703477	48703477	NM_000138.4:c.8326C>T	NP_000129.3:p.Arg2776Ter	NC_000015.9:g.48703477G>A	OMIM Allelic Variant:134797.0017	C0024796 154700 Marfan syndrome; CN221809 not provided
NM_000138.4(FBN1):c.8311G>A (p.Val2771Ile)	2200	FBN1	Uncertain significance	193922244	RCV000029792;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48703492	48703492	NM_000138.4:c.8311G>A	NP_000129.3:p.Val2771Ile	NC_000015.9:g.48703492C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.8283A>T (p.Thr2761=)	2200	FBN1	Benign;Likely benign	146120912	RCV000029791; RCV000150694;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN169374	15	48703520	48703520	NM_000138.4:c.8283A>T	NP_000129.3:p.Thr2761=	NC_000015.9:g.48703520T>A	-	C0024796 154700 Marfan syndrome; CN169374 not specified
NC_000015.10:g.(?_48411326)_(48468521_?)del	2200	FBN1	Pathogenic	-1	RCV000150692;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48703523	48760718	-	-		-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.8268G>A (p.Trp2756Ter)	2200	FBN1	Pathogenic	267606796	RCV000017886;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48703535	48703535	NM_000138.4:c.8268G>A	NP_000129.3:p.Trp2756Ter	NC_000015.9:g.48703535C>T	OMIM Allelic Variant:134797.0004	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.8267G>A (p.Trp2756Ter)	2200	FBN1	Pathogenic	397515861	RCV000035287;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48703536	48703536	NM_000138.4:c.8267G>A	NP_000129.3:p.Trp2756Ter	NC_000015.9:g.48703536C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.8265_8266delTTinsAGGA (p.Ser2755Argfs)	2200	FBN1	Pathogenic	727504651	RCV000155914;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48703537	48703538	NM_000138.4:c.8265_8266delTTinsAGGA	NP_000129.3:p.Ser2755Argfs	NC_000015.9:g.48703537_48703538delinsTCCT	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.8226+5G>T	2200	FBN1	Uncertain significance	193922243	RCV000029790;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48704761	48704761	NM_000138.4:c.8226+5G>T		NC_000015.9:g.48704761C>A,NC_000015.9:g.48704761C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.8219A>G (p.Asn2740Ser)	2200	FBN1	Uncertain significance	193922242	RCV000029789; RCV000035286;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN169374	15	48704773	48704773	NM_000138.4:c.8219A>G	NP_000129.3:p.Asn2740Ser	NC_000015.9:g.48704773T>C	-	C0024796 154700 Marfan syndrome; CN169374 not specified
NM_000138.4(FBN1):c.8203delG (p.Glu2735Lysfs)	2200	FBN1	Likely pathogenic	193922241	RCV000029788;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48704789	48704789	NM_000138.4:c.8203delG	NP_000129.3:p.Glu2735Lysfs	NC_000015.9:g.48704789delC	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp)	2200	FBN1	Likely benign;Pathogenic;Uncertain significance	61746008	RCV000029787; RCV000181628;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN118826, Orphanet:ORPHA91387	15	48704816	48704816	NM_000138.4:c.8176C>T	NP_000129.3:p.Arg2726Trp	NC_000015.9:g.48704816G>A	OMIM Allelic Variant:134797.0023	C0024796 154700 Marfan syndrome; CN118826 Thoracic aortic aneurysm and aortic dissection
NM_000138.4(FBN1):c.8148C>G (p.Tyr2716Ter)	2200	FBN1	Likely pathogenic	112642323	RCV000208411;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48704844	48704844	NM_000138.4:c.8148C>G	NP_000129.3:p.Tyr2716Ter	NC_000015.9:g.48704844G>C	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.8081G>A (p.Arg2694Gln)	2200	FBN1	Uncertain significance	371375126	RCV000148495;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48704911	48704911	NM_000138.4:c.8081G>A	NP_000129.3:p.Arg2694Gln	NC_000015.9:g.48704911C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.8080C>T (p.Arg2694Ter)	2200	FBN1	Pathogenic	200309328	RCV000150695; RCV000181617;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN221809	15	48704912	48704912	NM_000138.4:c.8080C>T	NP_000129.3:p.Arg2694Ter	NC_000015.9:g.48704912G>A	-	C0024796 154700 Marfan syndrome; CN221809 not provided
NM_000138.4(FBN1):c.7999G>A (p.Glu2667Lys)	2200	FBN1	Likely pathogenic	149062442	RCV000029786;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48707785	48707785	NM_000138.4:c.7999G>A	NP_000129.3:p.Glu2667Lys	NC_000015.9:g.48707785C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.7955G>A (p.Cys2652Tyr)	2200	FBN1	Likely pathogenic;Pathogenic	397515859	RCV000035283; RCV000181621;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN221809	15	48707829	48707829	NM_000138.4:c.7955G>A	NP_000129.3:p.Cys2652Tyr	NC_000015.9:g.48707829C>T	-	C0024796 154700 Marfan syndrome; CN221809 not provided
NM_000138.4(FBN1):c.7898G>C (p.Cys2633Ser)	2200	FBN1	Likely pathogenic	193922240	RCV000029785;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48707886	48707886	NM_000138.4:c.7898G>C	NP_000129.3:p.Cys2633Ser	NC_000015.9:g.48707886C>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.7879G>A (p.Gly2627Arg)	2200	FBN1	Likely pathogenic	193922239	RCV000029784;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48707905	48707905	NM_000138.4:c.7879G>A	NP_000129.3:p.Gly2627Arg	NC_000015.9:g.48707905C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.7852G>A (p.Gly2618Arg)	2200	FBN1	Pathogenic;Uncertain significance	141133182	RCV000035279; RCV000181619; RCV000154182;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN118826, Orphanet:ORPHA91387; MedGen:CN169374	15	48707932	48707932	NM_000138.4:c.7852G>A	NP_000129.3:p.Gly2618Arg	NC_000015.9:g.48707932C>T	-	C0024796 154700 Marfan syndrome; CN169374 not specified; CN118826 Thoracic aortic aneurysm and aortic dissection
NM_000138.4(FBN1):c.7846A>G (p.Ile2616Val)	2200	FBN1	Uncertain significance	143677764	RCV000148491; RCV000181618;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN118826, Orphanet:ORPHA91387	15	48707938	48707938	NM_000138.4:c.7846A>G	NP_000129.3:p.Ile2616Val	NC_000015.9:g.48707938T>C	-	C0024796 154700 Marfan syndrome; CN118826 Thoracic aortic aneurysm and aortic dissection
NM_000138.4(FBN1):c.7839C>T (p.Ser2613=)	2200	FBN1	Likely benign	193922238	RCV000029783;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48707945	48707945	NM_000138.4:c.7839C>T	NP_000129.3:p.Ser2613=	NC_000015.9:g.48707945G>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.7820-3C>G	2200	FBN1	Uncertain significance	193922237	RCV000029782;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48707967	48707967	NM_000138.4:c.7820-3C>G		NC_000015.9:g.48707967G>C	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.7806G>A (p.Trp2602Ter)	2200	FBN1	Likely pathogenic;Pathogenic	193922236	RCV000029781; RCV000181599;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN221809	15	48712897	48712897	NM_000138.4:c.7806G>A	NP_000129.3:p.Trp2602Ter	NC_000015.9:g.48712897C>T	-	C0024796 154700 Marfan syndrome; CN221809 not provided
NM_000138.4(FBN1):c.7769G>A (p.Cys2590Tyr)	2200	FBN1	Likely pathogenic	869025416	RCV000208225;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48712934	48712934	NM_000138.4:c.7769G>A	NP_000129.3:p.Cys2590Tyr	NC_000015.9:g.48712934C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.7754T>C (p.Ile2585Thr)	2200	FBN1	Likely pathogenic;Pathogenic	727503054	RCV000150696; RCV000181613;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN118826, Orphanet:ORPHA91387	15	48712949	48712949	NM_000138.4:c.7754T>C	NP_000129.3:p.Ile2585Thr	NC_000015.9:g.48712949A>G	-	C0024796 154700 Marfan syndrome; CN118826 Thoracic aortic aneurysm and aortic dissection
NM_000138.4(FBN1):c.7726C>T (p.Arg2576Cys)	2200	FBN1	Likely pathogenic;Pathogenic	147195031	RCV000029780; RCV000083258;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:C4016059	15	48712977	48712977	NM_000138.4:c.7726C>T	NP_000129.3:p.Arg2576Cys	NC_000015.9:g.48712977G>A	OMIM Allelic Variant:134797.0068	C0024796 154700 Marfan syndrome; C4016059 Marfan syndrome, autosomal recessive
NM_000138.4(FBN1):c.7702G>A (p.Val2568Met)	2200	FBN1	Uncertain significance	138558987	RCV000148492; RCV000181612;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN169374	15	48713001	48713001	NM_000138.4:c.7702G>A	NP_000129.3:p.Val2568Met	NC_000015.9:g.48713001C>T	-	C0024796 154700 Marfan syndrome; CN169374 not specified
NM_000138.4(FBN1):c.7678delC (p.Gln2560Argfs)	2200	FBN1	Likely pathogenic	193922235	RCV000029779;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48713776	48713776	NM_000138.4:c.7678delC	NP_000129.3:p.Gln2560Argfs	NC_000015.9:g.48713776delG	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.7666T>G (p.Phe2556Val)	2200	FBN1	Likely pathogenic	193922234	RCV000029778;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48713788	48713788	NM_000138.4:c.7666T>G	NP_000129.3:p.Phe2556Val	NC_000015.9:g.48713788A>C	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.7606G>A (p.Gly2536Arg)	2200	FBN1	Pathogenic	397515854	RCV000035274; RCV000181609;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN221809	15	48713848	48713848	NM_000138.4:c.7606G>A	NP_000129.3:p.Gly2536Arg	NC_000015.9:g.48713848C>T	-	C0024796 154700 Marfan syndrome; CN221809 not provided
NM_000138.4(FBN1):c.7580A>C (p.Glu2527Ala)	2200	FBN1	Likely pathogenic	397515853	RCV000035273;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48713874	48713874	NM_000138.4:c.7580A>C	NP_000129.3:p.Glu2527Ala	NC_000015.9:g.48713874T>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.7540G>A (p.Gly2514Arg)	2200	FBN1	Likely pathogenic;Uncertain significance	363811	RCV000208039; RCV000154717;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN169374	15	48714179	48714179	NM_000138.4:c.7540G>A	NP_000129.3:p.Gly2514Arg	NC_000015.9:g.48714179C>T	-	C0024796 154700 Marfan syndrome; CN169374 not specified
NM_000138.4(FBN1):c.7497_7498delAT (p.Val2501Terfs)	2200	FBN1	Likely pathogenic	397515852	RCV000035272;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48714221	48714222	NM_000138.4:c.7497_7498delAT	NP_000129.3:p.Val2501Terfs	NC_000015.9:g.48714221_48714222delAT	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.7453+1G>T	2200	FBN1	Likely pathogenic	397515851	RCV000035271;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48717565	48717565	NM_000138.4:c.7453+1G>T		NC_000015.9:g.48717565C>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.7421A>G (p.Tyr2474Cys)	2200	FBN1	Likely pathogenic	869025415	RCV000208392;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48717598	48717598	NM_000138.4:c.7421A>G	NP_000129.3:p.Tyr2474Cys	NC_000015.9:g.48717598T>C	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.7412C>G (p.Pro2471Arg)	2200	FBN1	Likely pathogenic;Uncertain significance	193922233	RCV000029777; RCV000181602;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN169374	15	48717607	48717607	NM_000138.4:c.7412C>G	NP_000129.3:p.Pro2471Arg	NC_000015.9:g.48717607G>C	-	C0024796 154700 Marfan syndrome; CN169374 not specified
NM_000138.4(FBN1):c.7407A>G (p.Ser2469=)	2200	FBN1	Likely benign	193922232	RCV000029776;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48717612	48717612	NM_000138.4:c.7407A>G	NP_000129.3:p.Ser2469=	NC_000015.9:g.48717612T>C	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.7379A>G (p.Lys2460Arg)	2200	FBN1	Uncertain significance	144189837	RCV000148493; RCV000181600;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN169374	15	48717640	48717640	NM_000138.4:c.7379A>G	NP_000129.3:p.Lys2460Arg	NC_000015.9:g.48717640T>C	-	C0024796 154700 Marfan syndrome; CN169374 not specified
NM_000138.4(FBN1):c.7259delA (p.Asn2420Metfs)	2200	FBN1	Likely pathogenic	869025424	RCV000208150;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48718007	48718007	NM_000138.4:c.7259delA	NP_000129.3:p.Asn2420Metfs	NC_000015.9:g.48718007delT	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.7241G>A (p.Arg2414Gln)	2200	FBN1	Likely benign	143863014	RCV000148488;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48718025	48718025	NM_000138.4:c.7241G>A	NP_000129.3:p.Arg2414Gln	NC_000015.9:g.48718025C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.7230C>T (p.His2410=)	2200	FBN1	Likely benign	193922231	RCV000029775;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48718036	48718036	NM_000138.4:c.7230C>T	NP_000129.3:p.His2410=	NC_000015.9:g.48718036G>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.7229A>C (p.His2410Pro)	2200	FBN1	Likely pathogenic	193922230	RCV000029774;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48718037	48718037	NM_000138.4:c.7229A>C	NP_000129.3:p.His2410Pro	NC_000015.9:g.48718037T>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.7180C>T (p.Arg2394Ter)	2200	FBN1	Pathogenic	397515848	RCV000035267;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48719788	48719788	NM_000138.4:c.7180C>T	NP_000129.3:p.Arg2394Ter	NC_000015.9:g.48719788G>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.7169G>A (p.Cys2390Tyr)	2200	FBN1	Uncertain significance	864622754	RCV000206388;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN118826, Orphanet:ORPHA91387	15	48719799	48719799	NM_000138.4:c.7169G>A	NP_000129.3:p.Cys2390Tyr		-	C0024796 154700 Marfan syndrome; CN118826 Thoracic aortic aneurysm and aortic dissection
NM_000138.4(FBN1):c.7167_7168delCT (p.Cys2390Serfs)	2200	FBN1	Pathogenic	397515846	RCV000035265; RCV000181675;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN221809	15	48719800	48719801	NM_000138.4:c.7167_7168delCT	NP_000129.3:p.Cys2390Serfs	NC_000015.9:g.48719800_48719801delAG	-	C0024796 154700 Marfan syndrome; CN221809 not provided
NM_000138.4(FBN1):c.7168T>C (p.Cys2390Arg)	2200	FBN1	Likely pathogenic	397515847	RCV000035266;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48719800	48719800	NM_000138.4:c.7168T>C	NP_000129.3:p.Cys2390Arg	NC_000015.9:g.48719800A>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.7151_7152delTG (p.Val2384Glyfs)	2200	FBN1	Likely pathogenic	869025423	RCV000208498;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48719816	48719817	NM_000138.4:c.7151_7152delTG	NP_000129.3:p.Val2384Glyfs	NC_000015.9:g.48719816_48719817delCA	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.7141C>T (p.Gln2381Ter)	2200	FBN1	Likely pathogenic	869025414	RCV000208200;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48719827	48719827	NM_000138.4:c.7141C>T	NP_000129.3:p.Gln2381Ter	NC_000015.9:g.48719827G>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.7109delG (p.Gly2370Alafs)	2200	FBN1	Likely pathogenic	869025422	RCV000208317;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48719859	48719859	NM_000138.4:c.7109delG	NP_000129.3:p.Gly2370Alafs	NC_000015.9:g.48719859delC	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.7094G>A (p.Cys2365Tyr)	2200	FBN1	Likely pathogenic	397515845	RCV000035264;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48719874	48719874	NM_000138.4:c.7094G>A	NP_000129.3:p.Cys2365Tyr	NC_000015.9:g.48719874C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.7072G>A (p.Val2358Ile)	2200	FBN1	Likely pathogenic;Uncertain significance	140537304	RCV000029773; RCV000181589;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN169374	15	48719896	48719896	NM_000138.4:c.7072G>A	NP_000129.3:p.Val2358Ile	NC_000015.9:g.48719896C>T	-	C0024796 154700 Marfan syndrome; CN169374 not specified
NM_000138.4(FBN1):c.7039_7040delAT (p.Met2347Valfs)	2200	FBN1	Pathogenic	794728319	RCV000208062; RCV000181674;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN221809	15	48719928	48719929	NM_000138.4:c.7039_7040delAT	NP_000129.3:p.Met2347Valfs	NC_000015.9:g.48719928_48719929delAT	-	C0024796 154700 Marfan syndrome; CN221809 not provided
NM_000138.4(FBN1):c.6998-40delA	2200	FBN1	Uncertain significance	193922229	RCV000029772;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48720010	48720010	NM_000138.4:c.6998-40delA		NC_000015.9:g.48720010delT	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.6970G>A (p.Ala2324Thr)	2200	FBN1	Likely pathogenic	148831709	RCV000029771;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48720570	48720570	NM_000138.4:c.6970G>A	NP_000129.3:p.Ala2324Thr	NC_000015.9:g.48720570C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.6920G>A (p.Cys2307Tyr)	2200	FBN1	Likely pathogenic	137854457	RCV000035259;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48720620	48720620	NM_000138.4:c.6920G>A	NP_000129.3:p.Cys2307Tyr	NC_000015.9:g.48720620C>G,NC_000015.9:g.48720620C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.6886C>T (p.Gln2296Ter)	2200	FBN1	Pathogenic	727504410	RCV000154597;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48720654	48720654	NM_000138.4:c.6886C>T	NP_000129.3:p.Gln2296Ter	NC_000015.9:g.48720654G>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.6865T>C (p.Cys2289Arg)	2200	FBN1	Likely pathogenic	869025413	RCV000208020;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48722874	48722874	NM_000138.4:c.6865T>C	NP_000129.3:p.Cys2289Arg	NC_000015.9:g.48722874A>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.6841C>T (p.Gln2281Ter)	2200	FBN1	Likely pathogenic	397515840	RCV000035256;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48722898	48722898	NM_000138.4:c.6841C>T	NP_000129.3:p.Gln2281Ter	NC_000015.9:g.48722898G>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.6832C>T (p.Pro2278Ser)	2200	FBN1	Benign	363835	RCV000029770; RCV000035254;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN169374	15	48722907	48722907	NM_000138.4:c.6832C>T	NP_000129.3:p.Pro2278Ser	NC_000015.9:g.48722907G>A	-	C0024796 154700 Marfan syndrome; CN169374 not specified
NM_000138.4(FBN1):c.6820T>C (p.Cys2274Arg)	2200	FBN1	Likely pathogenic	869025412	RCV000208376;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48722919	48722919	NM_000138.4:c.6820T>C	NP_000129.3:p.Cys2274Arg	NC_000015.9:g.48722919A>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.6806T>C (p.Ile2269Thr)	2200	FBN1	Likely pathogenic;Pathogenic	193922228	RCV000029769;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48722933	48722933	NM_000138.4:c.6806T>C	NP_000129.3:p.Ile2269Thr	NC_000015.9:g.48722933A>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.6793_6800dupTGCAAGAA (p.Leu2268Alafs)	2200	FBN1	Likely pathogenic	193922227	RCV000029768;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48722939	48722946	NM_000138.4:c.6793_6800dupTGCAAGAA	NP_000129.3:p.Leu2268Alafs	NC_000015.9:g.48722939_48722946dupTTCTTGCA	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.6739+2T>A	2200	FBN1	Likely pathogenic	730880107	RCV000157234;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48725061	48725061	NM_000138.4:c.6739+2T>A		NC_000015.9:g.48725061A>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.6739+1G>A	2200	FBN1	Likely pathogenic	869025419	RCV000208077;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48725062	48725062	NM_000138.4:c.6739+1G>A		NC_000015.9:g.48725062C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.6704delG (p.Gly2235Aspfs)	2200	FBN1	Likely pathogenic	193922226	RCV000029767;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48725098	48725098	NM_000138.4:c.6704delG	NP_000129.3:p.Gly2235Aspfs	NC_000015.9:g.48725098delC	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.6700G>A (p.Val2234Met)	2200	FBN1	Benign;Uncertain significance	112084407	RCV000029766; RCV000035252;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN169374	15	48725102	48725102	NM_000138.4:c.6700G>A	NP_000129.3:p.Val2234Met	NC_000015.9:g.48725102C>T	-	C0024796 154700 Marfan syndrome; CN169374 not specified
NM_000138.4(FBN1):c.6694T>C (p.Cys2232Arg)	2200	FBN1	Likely pathogenic	869025411	RCV000208180;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48725108	48725108	NM_000138.4:c.6694T>C	NP_000129.3:p.Cys2232Arg	NC_000015.9:g.48725108A>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.6662G>C (p.Cys2221Ser)	2200	FBN1	Pathogenic	137854460	RCV000017889;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48725140	48725140	NM_000138.4:c.6662G>C	NP_000129.3:p.Cys2221Ser	NC_000015.9:g.48725140C>G	OMIM Allelic Variant:134797.0007	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.6658C>T (p.Arg2220Ter)	2200	FBN1	Likely pathogenic;Pathogenic	113001196	RCV000035250; RCV000181574;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN221809	15	48725144	48725144	NM_000138.4:c.6658C>T	NP_000129.3:p.Arg2220Ter	15:g.48725144G>A	-	C0024796 154700 Marfan syndrome; CN221809 not provided
NM_000138.4(FBN1):c.6656T>C (p.Phe2219Ser)	2200	FBN1	Likely pathogenic	397515837	RCV000035249;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48725146	48725146	NM_000138.4:c.6656T>C	NP_000129.3:p.Phe2219Ser	NC_000015.9:g.48725146A>C,NC_000015.9:g.48725146A>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.6630T>G (p.Cys2210Trp)	2200	FBN1	Likely pathogenic	397515836	RCV000035248;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48725172	48725172	NM_000138.4:c.6630T>G	NP_000129.3:p.Cys2210Trp	NC_000015.9:g.48725172A>C,NC_000015.9:g.48725172A>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.6617-9_6617-8delinsAG	2200	FBN1	Likely pathogenic	397515835	RCV000035247;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48725193	48725194	NM_000138.4:c.6617-9_6617-8delinsAG		NC_000015.9:g.48725193_48725194delAGinsCT	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.6594C>T (p.Pro2198=)	2200	FBN1	Benign	111844882	RCV000029765; RCV000035246; RCV000205221;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN118826, Orphanet:ORPHA91387; MedGen:CN169374	15	48726813	48726813	NM_000138.4:c.6594C>T	NP_000129.3:p.Pro2198=	NC_000015.9:g.48726813G>A	-	C0024796 154700 Marfan syndrome; CN169374 not specified; CN118826 Thoracic aortic aneurysm and aortic dissection
NM_000138.4(FBN1):c.6553_6556dupATTG (p.Gly2186Aspfs)	2200	FBN1	Likely pathogenic	193922225	RCV000029764;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48726851	48726854	NM_000138.4:c.6553_6556dupATTG	NP_000129.3:p.Gly2186Aspfs	NC_000015.9:g.48726851_48726854dupCAAT	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.6515_6516delTTinsG (p.Val2172Glyfs)	2200	FBN1	Likely pathogenic	397515834	RCV000035245;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48726891	48726892	NM_000138.4:c.6515_6516delTTinsG	NP_000129.3:p.Val2172Glyfs	NC_000015.9:g.48726891_48726892delAAinsC	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.6431A>G (p.Asn2144Ser)	2200	FBN1	Pathogenic	137854461	RCV000017893;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48729223	48729223	NM_000138.4:c.6431A>G	NP_000129.3:p.Asn2144Ser	NC_000015.9:g.48729223T>C	OMIM Allelic Variant:134797.0009	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.6385G>T (p.Asp2129Tyr)	2200	FBN1	Likely pathogenic	193922223	RCV000029762;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48729269	48729269	NM_000138.4:c.6385G>T	NP_000129.3:p.Asp2129Tyr	NC_000015.9:g.48729269C>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.6380-83delT	2200	FBN1	Uncertain significance	193922222	RCV000029761;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48729357	48729357	NM_000138.4:c.6380-83delT		NC_000015.9:g.48729357delA	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.6379+1G>A	2200	FBN1	Likely pathogenic	397515833	RCV000035242;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48729518	48729518	NM_000138.4:c.6379+1G>A		NC_000015.9:g.48729518C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.6354C>T (p.Ile2118=)	2200	FBN1	Likely pathogenic;Pathogenic	112989722	RCV000017912;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48729544	48729544	NM_000138.4:c.6354C>T	NP_000129.3:p.Ile2118=	NC_000015.9:g.48729544G>A,NC_000015.9:g.48729544G>C	OMIM Allelic Variant:134797.0030	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.6354C>G (p.Ile2118Met)	2200	FBN1	Likely pathogenic	112989722	RCV000156842;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48729544	48729544	NM_000138.4:c.6354C>G	NP_000129.3:p.Ile2118Met	NC_000015.9:g.48729544G>A,NC_000015.9:g.48729544G>C	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.6339T>G (p.Tyr2113Ter)	2200	FBN1	Pathogenic	267606797	RCV000017892;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48729559	48729559	NM_000138.4:c.6339T>G	NP_000129.3:p.Tyr2113Ter	NC_000015.9:g.48729559A>C	OMIM Allelic Variant:134797.0008	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.6289G>T (p.Glu2097Ter)	2200	FBN1	Likely pathogenic	397515831	RCV000035240;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48729989	48729989	NM_000138.4:c.6289G>T	NP_000129.3:p.Glu2097Ter	NC_000015.9:g.48729989C>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.6120T>C (p.Cys2040=)	2200	FBN1	Likely benign	193922221	RCV000029760;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48733961	48733961	NM_000138.4:c.6120T>C	NP_000129.3:p.Cys2040=	NC_000015.9:g.48733961A>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.6119G>A (p.Cys2040Tyr)	2200	FBN1	Likely pathogenic	397515830	RCV000035239;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48733962	48733962	NM_000138.4:c.6119G>A	NP_000129.3:p.Cys2040Tyr	NC_000015.9:g.48733962C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.6073G>T (p.Ala2025Ser)	2200	FBN1	Benign	113577372	RCV000029759; RCV000125014;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN169374	15	48734008	48734008	NM_000138.4:c.6073G>T	NP_000129.3:p.Ala2025Ser	NC_000015.9:g.48734008C>A	-	C0024796 154700 Marfan syndrome; CN169374 not specified
NM_000138.4(FBN1):c.6038A>T (p.Asp2013Val)	2200	FBN1	Uncertain significance	869025410	RCV000208465;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48734043	48734043	NM_000138.4:c.6038A>T	NP_000129.3:p.Asp2013Val	NC_000015.9:g.48734043T>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.6006_6012dupTGGATAC (p.Ser2005Trpfs)	2200	FBN1	Likely pathogenic	193922220	RCV000029758;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48736763	48736769	NM_000138.4:c.6006_6012dupTGGATAC	NP_000129.3:p.Ser2005Trpfs	NC_000015.9:g.48736763_48736769dupGTATCCA	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.5918-2A>G	2200	FBN1	Likely pathogenic	869025418	RCV000208432;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48736859	48736859	NM_000138.4:c.5918-2A>G		NC_000015.9:g.48736859T>C	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.5888delA (p.Glu1963Glyfs)	2200	FBN1	Likely pathogenic	727504315	RCV000154386;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48737602	48737602	NM_000138.4:c.5888delA	NP_000129.3:p.Glu1963Glyfs	NC_000015.9:g.48737602delT	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.5869C>T (p.Gln1957Ter)	2200	FBN1	Likely pathogenic	397515829	RCV000035238;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48737621	48737621	NM_000138.4:c.5869C>T	NP_000129.3:p.Gln1957Ter	NC_000015.9:g.48737621G>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.5863C>T (p.Gln1955Ter)	2200	FBN1	Pathogenic	363807	RCV000035235; RCV000181551;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN221809	15	48737627	48737627	NM_000138.4:c.5863C>T	NP_000129.3:p.Gln1955Ter	NC_000015.9:g.48737627G>A	-	C0024796 154700 Marfan syndrome; CN221809 not provided
NM_000138.4(FBN1):c.5861T>G (p.Phe1954Cys)	2200	FBN1	Likely pathogenic	730880104	RCV000157231;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48737629	48737629	NM_000138.4:c.5861T>G	NP_000129.3:p.Phe1954Cys	NC_000015.9:g.48737629A>C	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.5840G>A (p.Cys1947Tyr)	2200	FBN1	Likely pathogenic	397515828	RCV000035237;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48737650	48737650	NM_000138.4:c.5840G>A	NP_000129.3:p.Cys1947Tyr	NC_000015.9:g.48737650C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.5806A>G (p.Ser1936Gly)	2200	FBN1	Uncertain significance	869025409	RCV000208355;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48737684	48737684	NM_000138.4:c.5806A>G	NP_000129.3:p.Ser1936Gly	NC_000015.9:g.48737684T>C	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.5788+5G>T	2200	FBN1	Uncertain significance	193922219	RCV000029757;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48738898	48738898	NM_000138.4:c.5788+5G>T		NC_000015.9:g.48738898C>A,NC_000015.9:g.48738898C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.5788+5G>A	2200	FBN1	Pathogenic	193922219	RCV000035236; RCV000181550;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN221809	15	48738898	48738898	NM_000138.4:c.5788+5G>A		NC_000015.9:g.48738898C>A,NC_000015.9:g.48738898C>T	-	C0024796 154700 Marfan syndrome; CN221809 not provided
NM_000138.4(FBN1):c.5783G>T (p.Cys1928Phe)	2200	FBN1	Pathogenic	587782947	RCV000143894;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48738908	48738908	NM_000138.4:c.5783G>T	NP_000129.3:p.Cys1928Phe	NC_000015.9:g.48738908C>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.5747G>A (p.Cys1916Tyr)	2200	FBN1	Likely pathogenic	397515827	RCV000035233;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48738944	48738944	NM_000138.4:c.5747G>A	NP_000129.3:p.Cys1916Tyr	NC_000015.9:g.48738944C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.5721C>G (p.Asn1907Lys)	2200	FBN1	Likely pathogenic	397515826	RCV000035232;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48738970	48738970	NM_000138.4:c.5721C>G	NP_000129.3:p.Asn1907Lys	NC_000015.9:g.48738970G>C	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.5672-3T>C	2200	FBN1	Uncertain significance	193922217	RCV000029755;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48739022	48739022	NM_000138.4:c.5672-3T>C		NC_000015.9:g.48739022A>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.5671G>C (p.Asp1891His)	2200	FBN1	Likely pathogenic	193922216	RCV000029754;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48740965	48740965	NM_000138.4:c.5671G>C	NP_000129.3:p.Asp1891His	NC_000015.9:g.48740965C>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.5588G>A (p.Gly1863Glu)	2200	FBN1	Likely pathogenic	113086760	RCV000035230;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48741048	48741048	NM_000138.4:c.5588G>A	NP_000129.3:p.Gly1863Glu	15:g.48741048C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.5555A>G (p.Glu1852Gly)	2200	FBN1	Uncertain significance	864622676	RCV000203678;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN118826, Orphanet:ORPHA91387	15	48741081	48741081	NM_000138.4:c.5555A>G	NP_000129.3:p.Glu1852Gly		-	C0024796 154700 Marfan syndrome; CN118826 Thoracic aortic aneurysm and aortic dissection
NM_000138.4(FBN1):c.5552A>G (p.Asn1851Ser)	2200	FBN1	Likely pathogenic	193922214	RCV000029752;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48741084	48741084	NM_000138.4:c.5552A>G	NP_000129.3:p.Asn1851Ser	NC_000015.9:g.48741084T>C	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.5545+12C>T	2200	FBN1	Uncertain significance	193922213	RCV000029751;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48744747	48744747	NM_000138.4:c.5545+12C>T		NC_000015.9:g.48744747G>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.(?_5475)_(5542_?)del (p.(?))	2200	FBN1	Pathogenic	-1	RCV000150693;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48744762	48744829	NM_000138.4:c.(?_5475)_(5542_?)del	NP_000129.3:p.(?)		-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.5521_5528delTTCACCTC (p.Phe1841Hisfs)	2200	FBN1	Likely pathogenic	193922212	RCV000029750;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48744776	48744783	NM_000138.4:c.5521_5528delTTCACCTC	NP_000129.3:p.Phe1841Hisfs	NC_000015.9:g.48744776_48744783delGAGGTGAA	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.5512G>T (p.Gly1838Cys)	2200	FBN1	Pathogenic	397515823	RCV000035228;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48744792	48744792	NM_000138.4:c.5512G>T	NP_000129.3:p.Gly1838Cys	NC_000015.9:g.48744792C>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.5504G>A (p.Cys1835Tyr)	2200	FBN1	Likely pathogenic;Pathogenic	111929350	RCV000035227; RCV000181545;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN221809	15	48744800	48744800	NM_000138.4:c.5504G>A	NP_000129.3:p.Cys1835Tyr	15:g.48744800C>T	-	C0024796 154700 Marfan syndrome; CN221809 not provided
NM_000138.4(FBN1):c.5437C>T (p.Gln1813Ter)	2200	FBN1	Likely pathogenic	397515821	RCV000035225;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48744867	48744867	NM_000138.4:c.5437C>T	NP_000129.3:p.Gln1813Ter	NC_000015.9:g.48744867G>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.5368C>T (p.Arg1790Ter)	2200	FBN1	Pathogenic	113249837	RCV000035224; RCV000181541;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN221809	15	48748888	48748888	NM_000138.4:c.5368C>T	NP_000129.3:p.Arg1790Ter	15:g.48748888G>A	-	C0024796 154700 Marfan syndrome; CN221809 not provided
NM_000138.4(FBN1):c.5280T>A (p.Tyr1760Ter)	2200	FBN1	Likely pathogenic	730880103	RCV000157230;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48752459	48752459	NM_000138.4:c.5280T>A	NP_000129.3:p.Tyr1760Ter	NC_000015.9:g.48752459A>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.5251C>T (p.Gln1751Ter)	2200	FBN1	Likely pathogenic	397515820	RCV000035221;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48752488	48752488	NM_000138.4:c.5251C>T	NP_000129.3:p.Gln1751Ter	NC_000015.9:g.48752488G>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.5066delA (p.Asp1689Valfs)	2200	FBN1	Likely pathogenic	727504347	RCV000154468;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48755437	48755437	NM_000138.4:c.5066delA	NP_000129.3:p.Asp1689Valfs	NC_000015.9:g.48755437delT	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.5066-1G>C	2200	FBN1	Pathogenic	397515819	RCV000035219;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48755438	48755438	NM_000138.4:c.5066-1G>C		NC_000015.9:g.48755438C>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.5016dupT (p.Ile1673Tyrfs)	2200	FBN1	Likely pathogenic	869025426	RCV000208525;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48756145	48756145	NM_000138.4:c.5016dupT	NP_000129.3:p.Ile1673Tyrfs	NC_000015.9:g.48756145dupA	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.4987T>C (p.Cys1663Arg)	2200	FBN1	Pathogenic	137854459	RCV000017888;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48756174	48756174	NM_000138.4:c.4987T>C	NP_000129.3:p.Cys1663Arg	NC_000015.9:g.48756174A>G	OMIM Allelic Variant:134797.0006	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.4955G>A (p.Cys1652Tyr)	2200	FBN1	Pathogenic	397515817	RCV000035217;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48756206	48756206	NM_000138.4:c.4955G>A	NP_000129.3:p.Cys1652Tyr	NC_000015.9:g.48756206C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.4942G>A (p.Asp1648Asn)	2200	FBN1	Likely pathogenic	397515816	RCV000035216;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48757765	48757765	NM_000138.4:c.4942G>A	NP_000129.3:p.Asp1648Asn	NC_000015.9:g.48757765C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.4937G>A (p.Cys1646Tyr)	2200	FBN1	Likely pathogenic	397515814	RCV000035213;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48757770	48757770	NM_000138.4:c.4937G>A	NP_000129.3:p.Cys1646Tyr	NC_000015.9:g.48757770C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.4905C>G (p.Thr1635=)	2200	FBN1	Benign	113115949	RCV000029746; RCV000035212; RCV000204125;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN118826, Orphanet:ORPHA91387; MedGen:CN169374	15	48757802	48757802	NM_000138.4:c.4905C>G	NP_000129.3:p.Thr1635=	NC_000015.9:g.48757802G>C	-	C0024796 154700 Marfan syndrome; CN169374 not specified; CN118826 Thoracic aortic aneurysm and aortic dissection
NM_000138.4(FBN1):c.4815A>G (p.Glu1605=)	2200	FBN1	Likely pathogenic	869025408	RCV000208162;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48757988	48757988	NM_000138.4:c.4815A>G	NP_000129.3:p.Glu1605=	NC_000015.9:g.48757988T>C	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.4786C>T (p.Arg1596Ter)	2200	FBN1	Pathogenic	113871094	RCV000029744; RCV000181534;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN221809	15	48758017	48758017	NM_000138.4:c.4786C>T	NP_000129.3:p.Arg1596Ter	NC_000015.9:g.48758017G>A	-	C0024796 154700 Marfan syndrome; CN221809 not provided
NM_000138.4(FBN1):c.4781G>A (p.Gly1594Asp)	2200	FBN1	Likely pathogenic;Pathogenic	267606798	RCV000035211; RCV000017937;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:C1861456,OMIM:184900	15	48758022	48758022	NM_000138.4:c.4781G>A	NP_000129.3:p.Gly1594Asp	NC_000015.9:g.48758022C>T	OMIM Allelic Variant:134797.0054	C0024796 154700 Marfan syndrome; C1861456 184900 Stiff skin syndrome
NM_000138.4(FBN1):c.4747+5G>C	2200	FBN1	Uncertain significance	193922209	RCV000029743;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48760130	48760130	NM_000138.4:c.4747+5G>C		NC_000015.9:g.48760130C>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.4704A>G (p.Lys1568=)	2200	FBN1	Likely benign	193922208	RCV000029742;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48760178	48760178	NM_000138.4:c.4704A>G	NP_000129.3:p.Lys1568=	NC_000015.9:g.48760178T>C	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.4684T>A (p.Cys1562Ser)	2200	FBN1	Likely pathogenic	193922207	RCV000029741;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48760198	48760198	NM_000138.4:c.4684T>A	NP_000129.3:p.Cys1562Ser	NC_000015.9:g.48760198A>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.4615C>T (p.Arg1539Ter)	2200	FBN1	Pathogenic	111231312	RCV000035206; RCV000181528;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN221809	15	48760267	48760267	NM_000138.4:c.4615C>T	NP_000129.3:p.Arg1539Ter	NC_000015.9:g.48760267G>A	-	C0024796 154700 Marfan syndrome; CN221809 not provided
NM_000138.4(FBN1):c.4588C>T (p.Arg1530Cys)	2200	FBN1	Pathogenic	111401431	RCV000029740;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48760294	48760294	NM_000138.4:c.4588C>T	NP_000129.3:p.Arg1530Cys	NC_000015.9:g.48760294G>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.4567C>T (p.Arg1523Ter)	2200	FBN1	Likely pathogenic	397515812	RCV000035205;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48760624	48760624	NM_000138.4:c.4567C>T	NP_000129.3:p.Arg1523Ter	NC_000015.9:g.48760624G>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.4531T>C (p.Cys1511Arg)	2200	FBN1	Likely pathogenic	397515811	RCV000035204;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48760660	48760660	NM_000138.4:c.4531T>C	NP_000129.3:p.Cys1511Arg	NC_000015.9:g.48760660A>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.4505G>A (p.Cys1502Tyr)	2200	FBN1	Likely pathogenic	397515810	RCV000035203;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48760686	48760686	NM_000138.4:c.4505G>A	NP_000129.3:p.Cys1502Tyr	NC_000015.9:g.48760686C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.4467T>A (p.Asn1489Lys)	2200	FBN1	Likely pathogenic	193922205	RCV000029738;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48760724	48760724	NM_000138.4:c.4467T>A	NP_000129.3:p.Asn1489Lys	NC_000015.9:g.48760724A>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.4460-8G>A	2200	FBN1	Likely pathogenic;Pathogenic	193922204	RCV000029737;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48760739	48760739	NM_000138.4:c.4460-8G>A		NC_000015.9:g.48760739C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.4453T>C (p.Cys1485Arg)	2200	FBN1	Likely pathogenic	730880101	RCV000157228;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48762837	48762837	NM_000138.4:c.4453T>C	NP_000129.3:p.Cys1485Arg	NC_000015.9:g.48762837A>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.4441A>G (p.Ser1481Gly)	2200	FBN1	Uncertain significance	61730054	RCV000029736; RCV000177859; RCV000035201;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN169374; MedGen:CN221809	15	48762849	48762849	NM_000138.4:c.4441A>G	NP_000129.3:p.Ser1481Gly	NC_000015.9:g.48762849T>C	-	C0024796 154700 Marfan syndrome; CN221809 not provided; CN169374 not specified
NM_000138.4(FBN1):c.4429G>A (p.Glu1477Lys)	2200	FBN1	Uncertain significance	869025407	RCV000208479;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48762861	48762861	NM_000138.4:c.4429G>A	NP_000129.3:p.Glu1477Lys	NC_000015.9:g.48762861C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.4406G>C (p.Arg1469Pro)	2200	FBN1	Likely pathogenic	397515808	RCV000035200;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48762884	48762884	NM_000138.4:c.4406G>C	NP_000129.3:p.Arg1469Pro	NC_000015.9:g.48762884C>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.4405C>T (p.Arg1469Cys)	2200	FBN1	Likely pathogenic	587782946	RCV000143893;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48762885	48762885	NM_000138.4:c.4405C>T	NP_000129.3:p.Arg1469Cys	NC_000015.9:g.48762885G>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.4367G>A (p.Cys1456Tyr)	2200	FBN1	Likely pathogenic	397515805	RCV000035196;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48762923	48762923	NM_000138.4:c.4367G>A	NP_000129.3:p.Cys1456Tyr	NC_000015.9:g.48762923C>G,NC_000015.9:g.48762923C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.4367G>C (p.Cys1456Ser)	2200	FBN1	Pathogenic	397515805	RCV000035199;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48762923	48762923	NM_000138.4:c.4367G>C	NP_000129.3:p.Cys1456Ser	NC_000015.9:g.48762923C>G,NC_000015.9:g.48762923C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.4364T>G (p.Ile1455Ser)	2200	FBN1	Likely pathogenic	397515807	RCV000035198;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48762926	48762926	NM_000138.4:c.4364T>G	NP_000129.3:p.Ile1455Ser	NC_000015.9:g.48762926A>C	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.4337-1_4337delinsTA	2200	FBN1	Likely pathogenic	-1	RCV000157236;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48762953	48762954	NM_000138.4:c.4337-1_4337delinsTA			-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.4330T>A (p.Cys1444Ser)	2200	FBN1	Uncertain significance	869025406	RCV000208295;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48764754	48764754	NM_000138.4:c.4330T>A	NP_000129.3:p.Cys1444Ser	NC_000015.9:g.48764754A>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.4313G>A (p.Ser1438Asn)	2200	FBN1	Uncertain significance	587782945	RCV000143892; RCV000181517;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN169374	15	48764771	48764771	NM_000138.4:c.4313G>A	NP_000129.3:p.Ser1438Asn	NC_000015.9:g.48764771C>T	-	C0024796 154700 Marfan syndrome; CN169374 not specified
NM_000138.4(FBN1):c.4270C>G (p.Pro1424Ala)	2200	FBN1	Uncertain significance	201273753	RCV000035194; RCV000161118;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN169374	15	48764814	48764814	NM_000138.4:c.4270C>G	NP_000129.3:p.Pro1424Ala	NC_000015.9:g.48764814G>C	-	C0024796 154700 Marfan syndrome; CN169374 not specified
NM_000138.4(FBN1):c.4253_4259delGCCAGTG (p.Gly1418Alafs)	2200	FBN1	Pathogenic	398122934	RCV000034311;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48764825	48764831	NM_000138.4:c.4253_4259delGCCAGTG	NP_000129.3:p.Gly1418Alafs	NC_000015.9:g.48764825_48764831delCACTGGC	OMIM Allelic Variant:134797.0067	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.4251_4259delTGGCCAGTG (p.Gly1418_Cys1420del)	2200	FBN1	Likely pathogenic	397515803	RCV000035192;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48764825	48764833	NM_000138.4:c.4251_4259delTGGCCAGTG	NP_000129.3:p.Gly1418_Cys1420del	NC_000015.9:g.48764825_48764833delCACTGGCCA	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.4259G>A (p.Cys1420Tyr)	2200	FBN1	Likely pathogenic;Pathogenic	397515804	RCV000035193; RCV000181514;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN221809	15	48764825	48764825	NM_000138.4:c.4259G>A	NP_000129.3:p.Cys1420Tyr	NC_000015.9:g.48764825C>T	-	C0024796 154700 Marfan syndrome; CN221809 not provided
NM_000138.4(FBN1):c.4222T>C (p.Cys1408Arg)	2200	FBN1	Pathogenic	397515802	RCV000035190;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48764862	48764862	NM_000138.4:c.4222T>C	NP_000129.3:p.Cys1408Arg	NC_000015.9:g.48764862A>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.4210+1G>A	2200	FBN1	Likely pathogenic	730880106	RCV000157233;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48766451	48766451	NM_000138.4:c.4210+1G>A		NC_000015.9:g.48766451C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.4197delC (p.Phe1400Serfs)	2200	FBN1	Likely pathogenic	869025421	RCV000208483;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48766465	48766465	NM_000138.4:c.4197delC	NP_000129.3:p.Phe1400Serfs	NC_000015.9:g.48766465delG	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.4165T>G (p.Cys1389Gly)	2200	FBN1	Likely pathogenic	193922203	RCV000029735;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48766497	48766497	NM_000138.4:c.4165T>G	NP_000129.3:p.Cys1389Gly	NC_000015.9:g.48766497A>C	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.4160A>G (p.Tyr1387Cys)	2200	FBN1	Likely pathogenic	397515801	RCV000035189;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48766502	48766502	NM_000138.4:c.4160A>G	NP_000129.3:p.Tyr1387Cys	NC_000015.9:g.48766502T>C	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.4048T>A (p.Cys1350Ser)	2200	FBN1	Likely pathogenic	397515799	RCV000035186;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48766764	48766764	NM_000138.4:c.4048T>A	NP_000129.3:p.Cys1350Ser	NC_000015.9:g.48766764A>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.4016G>C (p.Cys1339Ser)	2200	FBN1	Likely pathogenic	397515798	RCV000035185;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48766796	48766796	NM_000138.4:c.4016G>C	NP_000129.3:p.Cys1339Ser	NC_000015.9:g.48766796C>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.3965-8T>C	2200	FBN1	Benign	140637	RCV000029734; RCV000035183;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN169374	15	48766855	48766855	NM_000138.4:c.3965-8T>C		NC_000015.9:g.48766855A>G	-	C0024796 154700 Marfan syndrome; CN169374 not specified
NM_000138.4(FBN1):c.3893dupA (p.Asn1298Lysfs)	2200	FBN1	Likely pathogenic	869025425	RCV000208271;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48773923	48773923	NM_000138.4:c.3893dupA	NP_000129.3:p.Asn1298Lysfs	NC_000015.9:g.48773923dupT	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.3886T>C (p.Cys1296Arg)	2200	FBN1	Likely pathogenic	397515797	RCV000035182; RCV000181498;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN221809	15	48773930	48773930	NM_000138.4:c.3886T>C	NP_000129.3:p.Cys1296Arg	NC_000015.9:g.48773930A>G	-	C0024796 154700 Marfan syndrome; CN221809 not provided
NM_000138.4(FBN1):c.3848A>C (p.Glu1283Ala)	2200	FBN1	Likely pathogenic	397515796	RCV000035181;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48773968	48773968	NM_000138.4:c.3848A>C	NP_000129.3:p.Glu1283Ala	NC_000015.9:g.48773968T>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.3797A>T (p.Tyr1266Phe)	2200	FBN1	Likely benign	200283837	RCV000148489;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48776056	48776056	NM_000138.4:c.3797A>T	NP_000129.3:p.Tyr1266Phe	NC_000015.9:g.48776056T>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.3793T>C (p.Cys1265Arg)	2200	FBN1	Pathogenic	137854474	RCV000017913;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48776060	48776060	NM_000138.4:c.3793T>C	NP_000129.3:p.Cys1265Arg	NC_000015.9:g.48776060A>G	OMIM Allelic Variant:134797.0031	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.3746G>C (p.Cys1249Ser)	2200	FBN1	Pathogenic	137854458	RCV000017887;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48776107	48776107	NM_000138.4:c.3746G>C	NP_000129.3:p.Cys1249Ser	NC_000015.9:g.48776107C>G	OMIM Allelic Variant:134797.0005	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.3725G>A (p.Cys1242Tyr)	2200	FBN1	Pathogenic	137854471	RCV000017891;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48776128	48776128	NM_000138.4:c.3725G>A	NP_000129.3:p.Cys1242Tyr	NC_000015.9:g.48776128C>T	OMIM Allelic Variant:134797.0026	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.3675G>A (p.Pro1225=)	2200	FBN1	Benign	148147223	RCV000029733; RCV000150701;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN169374	15	48777608	48777608	NM_000138.4:c.3675G>A	NP_000129.3:p.Pro1225=	NC_000015.9:g.48777608C>T	-	C0024796 154700 Marfan syndrome; CN169374 not specified
NM_000138.4(FBN1):c.3668G>A (p.Cys1223Tyr)	2200	FBN1	Pathogenic	137854469	RCV000017906;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48777615	48777615	NM_000138.4:c.3668G>A	NP_000129.3:p.Cys1223Tyr	NC_000015.9:g.48777615C>A,NC_000015.9:g.48777615C>T	OMIM Allelic Variant:134797.0022	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.3662G>A (p.Cys1221Tyr)	2200	FBN1	Pathogenic	137854483	RCV000030943;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48777621	48777621	NM_000138.4:c.3662G>A	NP_000129.3:p.Cys1221Tyr	NC_000015.9:g.48777621C>T	OMIM Allelic Variant:134797.0045	C0024796 154700 Marfan syndrome
FBN1:c.3589+62_3589+71del	2200	FBN1	Uncertain significance	386134234	RCV000029731;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48779201	48779210	NM_000138.4:c.3589+62_3589+71delGTTATGTTAT		NC_000015.9:g.48779201_48779210delATAACATAAC	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.3589+31_3589+40dupTTTTATTTTA	2200	FBN1	Uncertain significance	386134233	RCV000029729;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48779232	48779241	NM_000138.4:c.3589+31_3589+40dupTTTTATTTTA		NC_000015.9:g.48779232_48779236dupTAAAA,NC_000015.9:g.48779232_48779241dupTAAAAT	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.3589+36_3589+40dupTTTTA	2200	FBN1	Uncertain significance	386134233	RCV000029730;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48779232	48779236	NM_000138.4:c.3589+36_3589+40dupTTTTA		NC_000015.9:g.48779232_48779236dupTAAAA,NC_000015.9:g.48779232_48779241dupTAAAAT	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.3589G>C (p.Asp1197His)	2200	FBN1	Likely pathogenic	397515793	RCV000156031;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48779272	48779272	NM_000138.4:c.3589G>C	NP_000129.3:p.Asp1197His	NC_000015.9:g.48779272C>G,NC_000015.9:g.48779272C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.3560A>G (p.His1187Arg)	2200	FBN1	Uncertain significance	193922200	RCV000029728; RCV000035176;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN169374	15	48779301	48779301	NM_000138.4:c.3560A>G	NP_000129.3:p.His1187Arg	NC_000015.9:g.48779301T>C	-	C0024796 154700 Marfan syndrome; CN169374 not specified
NM_000138.4(FBN1):c.3546C>A (p.Cys1182Ter)	2200	FBN1	Pathogenic	727504411	RCV000154599;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48779315	48779315	NM_000138.4:c.3546C>A	NP_000129.3:p.Cys1182Ter	NC_000015.9:g.48779315G>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.3509G>A (p.Arg1170His)	2200	FBN1	Likely benign;Pathogenic;Uncertain significance	137854475	RCV000148494; RCV000017914; RCV000181488; RCV000176913; RCV000154459; RCV000157227;	N	; MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:C1839796; MedGen:CN118826, Orphanet:ORPHA91387; MedGen:CN169374; MedGen:CN221809	15	48779352	48779352	NM_000138.4:c.3509G>A	NP_000129.3:p.Arg1170His	NC_000015.9:g.48779352C>T	OMIM Allelic Variant:134797.0032	C0024796 154700 Marfan syndrome; C1839796 Marfanoid habitus; CN221809 not provided; CN169374 not specified; CN118826 Thoracic aortic aneurysm and aortic dissection
NM_000138.4(FBN1):c.3478G>T (p.Glu1160Ter)	2200	FBN1	Likely pathogenic	193922199	RCV000029727;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48779383	48779383	NM_000138.4:c.3478G>T	NP_000129.3:p.Glu1160Ter	NC_000015.9:g.48779383C>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.3463+1G>T	2200	FBN1	Pathogenic	397515792	RCV000035173;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48779508	48779508	NM_000138.4:c.3463+1G>T		NC_000015.9:g.48779508C>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.3442C>G (p.Pro1148Ala)	2200	FBN1	Benign	140598	RCV000029726; RCV000030812; RCV000035172;	N	; MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN169374	15	48779530	48779530	NM_000138.4:c.3442C>G	NP_000129.3:p.Pro1148Ala	NC_000015.9:g.48779530G>C	OMIM Allelic Variant:134797.0062	C0024796 154700 Marfan syndrome; CN169374 not specified
NM_000138.4(FBN1):c.3413G>T (p.Cys1138Phe)	2200	FBN1	Likely pathogenic	397515791	RCV000035169;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48779559	48779559	NM_000138.4:c.3413G>T	NP_000129.3:p.Cys1138Phe	NC_000015.9:g.48779559C>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.3392A>G (p.Asn1131Ser)	2200	FBN1	Likely pathogenic	397515790	RCV000035168;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48779580	48779580	NM_000138.4:c.3392A>G	NP_000129.3:p.Asn1131Ser	NC_000015.9:g.48779580T>C	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.3386G>A (p.Cys1129Tyr)	2200	FBN1	Pathogenic	137854482	RCV000017927;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48779586	48779586	NM_000138.4:c.3386G>A	NP_000129.3:p.Cys1129Tyr	NC_000015.9:g.48779586C>T	OMIM Allelic Variant:134797.0044	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.3379G>A (p.Gly1127Ser)	2200	FBN1	Pathogenic;Uncertain significance	137854468	RCV000029725; RCV000017905;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:C4016056	15	48779593	48779593	NM_000138.4:c.3379G>A	NP_000129.3:p.Gly1127Ser	NC_000015.9:g.48779593C>T	OMIM Allelic Variant:134797.0021	C0024796 154700 Marfan syndrome; C4016056 Marfan syndrome, mild
NM_000138.4(FBN1):c.3373C>T (p.Arg1125Ter)	2200	FBN1	Pathogenic	727505006	RCV000156427;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48779599	48779599	NM_000138.4:c.3373C>T	NP_000129.3:p.Arg1125Ter	NC_000015.9:g.48779599G>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.3350G>A (p.Cys1117Tyr)	2200	FBN1	Pathogenic	137854470	RCV000017890;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48779622	48779622	NM_000138.4:c.3350G>A	NP_000129.3:p.Cys1117Tyr	NC_000015.9:g.48779622C>T	OMIM Allelic Variant:134797.0025	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.3337+1G>A	2200	FBN1	Likely pathogenic	397515789	RCV000035167;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48780309	48780309	NM_000138.4:c.3337+1G>A		NC_000015.9:g.48780309C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.3294C>T (p.Asp1098=)	2200	FBN1	Benign	140587	RCV000202755; RCV000035166;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN169374	15	48780353	48780353	NM_000138.4:c.3294C>T	NP_000129.3:p.Asp1098=	NC_000015.9:g.48780353G>A	-	C0024796 154700 Marfan syndrome; CN169374 not specified
NM_000138.4(FBN1):c.3274delG (p.Asp1092Thrfs)	2200	FBN1	Pathogenic	397515788	RCV000035165;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48780373	48780373	NM_000138.4:c.3274delG	NP_000129.3:p.Asp1092Thrfs	NC_000015.9:g.48780373delC	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.3193delG (p.Glu1065Lysfs)	2200	FBN1	Likely pathogenic	193922198	RCV000029724;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48780580	48780580	NM_000138.4:c.3193delG	NP_000129.3:p.Glu1065Lysfs	NC_000015.9:g.48780580delC	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.3164G>A (p.Cys1055Tyr)	2200	FBN1	Pathogenic	397515786	RCV000035163;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48780609	48780609	NM_000138.4:c.3164G>A	NP_000129.3:p.Cys1055Tyr	NC_000015.9:g.48780609C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.3140_3141delCC (p.Thr1047Asnfs)	2200	FBN1	Likely pathogenic	193922197	RCV000029723;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48780632	48780633	NM_000138.4:c.3140_3141delCC	NP_000129.3:p.Thr1047Asnfs	NC_000015.9:g.48780632_48780633delGG	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.3131G>A (p.Cys1044Tyr)	2200	FBN1	Likely pathogenic	730880100	RCV000157226;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48780642	48780642	NM_000138.4:c.3131G>A	NP_000129.3:p.Cys1044Tyr	NC_000015.9:g.48780642C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.3082+8delG	2200	FBN1	Benign;Likely benign	193922196	RCV000029722; RCV000181401; RCV000035161;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN118826, Orphanet:ORPHA91387; MedGen:CN169374	15	48782040	48782040	NM_000138.4:c.3082+8delG		NC_000015.9:g.48782040delC	-	C0024796 154700 Marfan syndrome; CN169374 not specified; CN118826 Thoracic aortic aneurysm and aortic dissection
NM_000138.4(FBN1):c.3058A>G (p.Thr1020Ala)	2200	FBN1	Likely benign;Uncertain significance	111801777	RCV000035160; RCV000161120;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN169374	15	48782072	48782072	NM_000138.4:c.3058A>G	NP_000129.3:p.Thr1020Ala	NC_000015.9:g.48782072T>C	-	C0024796 154700 Marfan syndrome; CN169374 not specified
NM_000138.4(FBN1):c.3037G>C (p.Gly1013Arg)	2200	FBN1	Pathogenic	140593	RCV000017918;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48782093	48782093	NM_000138.4:c.3037G>C	NP_000129.3:p.Gly1013Arg	NC_000015.9:g.48782093C>G,NC_000015.9:g.48782093C>T	OMIM Allelic Variant:134797.0036	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.3037G>A (p.Gly1013Arg)	2200	FBN1	Pathogenic	140593	RCV000154235; RCV000181476;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN118826, Orphanet:ORPHA91387	15	48782093	48782093	NM_000138.4:c.3037G>A	NP_000129.3:p.Gly1013Arg	NC_000015.9:g.48782093C>G,NC_000015.9:g.48782093C>T	-	C0024796 154700 Marfan syndrome; CN118826 Thoracic aortic aneurysm and aortic dissection
NM_000138.4(FBN1):c.3026C>G (p.Pro1009Arg)	2200	FBN1	Likely pathogenic	148076256	RCV000029721;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48782104	48782104	NM_000138.4:c.3026C>G	NP_000129.3:p.Pro1009Arg	NC_000015.9:g.48782104G>C	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.3012C>G (p.Tyr1004Ter)	2200	FBN1	Likely pathogenic	397515784	RCV000035159;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48782118	48782118	NM_000138.4:c.3012C>G	NP_000129.3:p.Tyr1004Ter	NC_000015.9:g.48782118G>C	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2956G>A (p.Ala986Thr)	2200	FBN1	Benign;Likely benign;Uncertain significance	112287730	RCV000029720; RCV000143891; RCV000035156;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN118826, Orphanet:ORPHA91387; MedGen:CN169374	15	48782174	48782174	NM_000138.4:c.2956G>A	NP_000129.3:p.Ala986Thr	NC_000015.9:g.48782174C>T	-	C0024796 154700 Marfan syndrome; CN169374 not specified; CN118826 Thoracic aortic aneurysm and aortic dissection
NM_000138.4(FBN1):c.2942G>C (p.Cys981Ser)	2200	FBN1	Likely pathogenic	727505110	RCV000156563;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48782188	48782188	NM_000138.4:c.2942G>C	NP_000129.3:p.Cys981Ser	NC_000015.9:g.48782188C>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2927G>A (p.Arg976His)	2200	FBN1	Likely pathogenic;Uncertain significance	140954477	RCV000148497; RCV000181471; RCV000035155;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN118826, Orphanet:ORPHA91387; MedGen:CN169374	15	48782203	48782203	NM_000138.4:c.2927G>A	NP_000129.3:p.Arg976His	NC_000015.9:g.48782203C>T	-	C0024796 154700 Marfan syndrome; CN169374 not specified; CN118826 Thoracic aortic aneurysm and aortic dissection
NM_000138.4(FBN1):c.2920C>T (p.Arg974Cys)	2200	FBN1	Pathogenic	397514558	RCV000032871; RCV000172857;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:C1851286,OMIM:129600	15	48782210	48782210	NM_000138.4:c.2920C>T	NP_000129.3:p.Arg974Cys	NC_000015.9:g.48782210G>A	OMIM Allelic Variant:134797.0063	C1851286 129600 Ectopia lentis, isolated, autosomal dominant; C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2861G>A (p.Arg954His)	2200	FBN1	Likely pathogenic;Pathogenic	112911555	RCV000208533; RCV000181469;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN221809	15	48782269	48782269	NM_000138.4:c.2861G>A	NP_000129.3:p.Arg954His	NC_000015.9:g.48782269C>T	-	C0024796 154700 Marfan syndrome; CN221809 not provided
NM_000138.4(FBN1):c.2855-1G>C	2200	FBN1	Likely pathogenic	112202622	RCV000029718;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48782276	48782276	NM_000138.4:c.2855-1G>C		NC_000015.9:g.48782276C>G,NC_000015.9:g.48782276C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2855-1G>A	2200	FBN1	Pathogenic	112202622	RCV000035152;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48782276	48782276	NM_000138.4:c.2855-1G>A		NC_000015.9:g.48782276C>G,NC_000015.9:g.48782276C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2855-8T>C	2200	FBN1	Uncertain significance	193922195	RCV000029719;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48782283	48782283	NM_000138.4:c.2855-8T>C		NC_000015.9:g.48782283A>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2833delG (p.Ala945Profs)	2200	FBN1	Likely pathogenic	397515781	RCV000035151;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48784679	48784679	NM_000138.4:c.2833delG	NP_000129.3:p.Ala945Profs	NC_000015.9:g.48784679delC	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2695G>A (p.Gly899Arg)	2200	FBN1	Likely pathogenic	869025405	RCV000208274;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48786434	48786434	NM_000138.4:c.2695G>A	NP_000129.3:p.Gly899Arg	NC_000015.9:g.48786434C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2691dupT (p.Lys898Terfs)	2200	FBN1	Likely pathogenic	397515779	RCV000035149;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48786438	48786438	NM_000138.4:c.2691dupT	NP_000129.3:p.Lys898Terfs	NC_000015.9:g.48786438dupA	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2682delC (p.Ile895Tyrfs)	2200	FBN1	Likely pathogenic	193922194	RCV000029717;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48786447	48786447	NM_000138.4:c.2682delC	NP_000129.3:p.Ile895Tyrfs	NC_000015.9:g.48786447delG	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2677G>C (p.Asp893His)	2200	FBN1	Likely pathogenic	193922193	RCV000029716;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48787320	48787320	NM_000138.4:c.2677G>C	NP_000129.3:p.Asp893His	NC_000015.9:g.48787320C>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2658G>A (p.Pro886=)	2200	FBN1	Likely benign	193922192	RCV000029714;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48787339	48787339	NM_000138.4:c.2658G>A	NP_000129.3:p.Pro886=	NC_000015.9:g.48787339C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2542A>C (p.Thr848Pro)	2200	FBN1	Likely pathogenic	193922191	RCV000029713;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48787455	48787455	NM_000138.4:c.2542A>C	NP_000129.3:p.Thr848Pro	NC_000015.9:g.48787455T>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2508T>A (p.Ser836Arg)	2200	FBN1	Likely pathogenic	193922190	RCV000029712;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48787697	48787697	NM_000138.4:c.2508T>A	NP_000129.3:p.Ser836Arg	NC_000015.9:g.48787697A>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2496T>G (p.Cys832Trp)	2200	FBN1	Likely pathogenic	397515776	RCV000035146;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48787709	48787709	NM_000138.4:c.2496T>G	NP_000129.3:p.Cys832Trp	NC_000015.9:g.48787709A>C	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2495G>A (p.Cys832Tyr)	2200	FBN1	Likely pathogenic	397515775	RCV000035145;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48787710	48787710	NM_000138.4:c.2495G>A	NP_000129.3:p.Cys832Tyr	NC_000015.9:g.48787710C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2489G>C (p.Cys830Ser)	2200	FBN1	Likely pathogenic	397515774	RCV000035144;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48787716	48787716	NM_000138.4:c.2489G>C	NP_000129.3:p.Cys830Ser	NC_000015.9:g.48787716C>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2488T>G (p.Cys830Gly)	2200	FBN1	Likely pathogenic	397515773	RCV000035143;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48787717	48787717	NM_000138.4:c.2488T>G	NP_000129.3:p.Cys830Gly	NC_000015.9:g.48787717A>C	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2479T>C (p.Ser827Pro)	2200	FBN1	Likely pathogenic	193922189	RCV000029711;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48787726	48787726	NM_000138.4:c.2479T>C	NP_000129.3:p.Ser827Pro	NC_000015.9:g.48787726A>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2448C>G (p.Cys816Trp)	2200	FBN1	Likely pathogenic	397515771	RCV000035140;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48787757	48787757	NM_000138.4:c.2448C>G	NP_000129.3:p.Cys816Trp	NC_000015.9:g.48787757G>C	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2447G>C (p.Cys816Ser)	2200	FBN1	Likely pathogenic	397515770	RCV000035139;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48787758	48787758	NM_000138.4:c.2447G>C	NP_000129.3:p.Cys816Ser	NC_000015.9:g.48787758C>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2433C>A (p.Cys811Ter)	2200	FBN1	Likely pathogenic	193921256	RCV000029709;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48787772	48787772	NM_000138.4:c.2433C>A	NP_000129.3:p.Cys811Ter	NC_000015.9:g.48787772G>A,NC_000015.9:g.48787772G>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2433C>T (p.Cys811=)	2200	FBN1	Likely benign	193921256	RCV000029710;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48787772	48787772	NM_000138.4:c.2433C>T	NP_000129.3:p.Cys811=	NC_000015.9:g.48787772G>A,NC_000015.9:g.48787772G>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2420-58delT	2200	FBN1	Uncertain significance	149403312	RCV000029708;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48787843	48787843	NM_000138.4:c.2420-58delT		NC_000015.9:g.48787843delA	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2412_2413delAT (p.Cys805Terfs)	2200	FBN1	Pathogenic	397515769	RCV000035138;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48788303	48788304	NM_000138.4:c.2412_2413delAT	NP_000129.3:p.Cys805Terfs	NC_000015.9:g.48788303_48788304delAT	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2407A>T (p.Lys803Ter)	2200	FBN1	Pathogenic	397515768	RCV000035137;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48788309	48788309	NM_000138.4:c.2407A>T	NP_000129.3:p.Lys803Ter	NC_000015.9:g.48788309T>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2369G>C (p.Cys790Ser)	2200	FBN1	Likely pathogenic	193922188	RCV000029707;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48788347	48788347	NM_000138.4:c.2369G>C	NP_000129.3:p.Cys790Ser	NC_000015.9:g.48788347C>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2341T>C (p.Cys781Arg)	2200	FBN1	Pathogenic	397515766	RCV000035135;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48788375	48788375	NM_000138.4:c.2341T>C	NP_000129.3:p.Cys781Arg	NC_000015.9:g.48788375A>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2261A>G (p.Tyr754Cys)	2200	FBN1	Pathogenic	137854479	RCV000017923;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48789495	48789495	NM_000138.4:c.2261A>G	NP_000129.3:p.Tyr754Cys	NC_000015.9:g.48789495T>C	OMIM Allelic Variant:134797.0041	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2242T>C (p.Cys748Arg)	2200	FBN1	Likely pathogenic	397515765	RCV000035134;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48789514	48789514	NM_000138.4:c.2242T>C	NP_000129.3:p.Cys748Arg	NC_000015.9:g.48789514A>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2186delT (p.Leu729Glnfs)	2200	FBN1	Likely pathogenic	193922187	RCV000029706;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48789570	48789570	NM_000138.4:c.2186delT	NP_000129.3:p.Leu729Glnfs	NC_000015.9:g.48789570delA	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2168A>C (p.Asp723Ala)	2200	FBN1	Pathogenic	137854463	RCV000017895;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48789588	48789588	NM_000138.4:c.2168A>C	NP_000129.3:p.Asp723Ala	NC_000015.9:g.48789588T>G	OMIM Allelic Variant:134797.0011	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2113+2T>C	2200	FBN1	Likely pathogenic	730880105	RCV000157232;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48795982	48795982	NM_000138.4:c.2113+2T>C		NC_000015.9:g.48795982A>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2057C>A (p.Ala686Asp)	2200	FBN1	Likely pathogenic	193922186	RCV000029705;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48796040	48796040	NM_000138.4:c.2057C>A	NP_000129.3:p.Ala686Asp	NC_000015.9:g.48796040G>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2056G>A (p.Ala686Thr)	2200	FBN1	Uncertain significance	377621293	RCV000148498;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48796041	48796041	NM_000138.4:c.2056G>A	NP_000129.3:p.Ala686Thr	NC_000015.9:g.48796041C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2055C>G (p.Cys685Trp)	2200	FBN1	Pathogenic	140603	RCV000029703;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48796042	48796042	NM_000138.4:c.2055C>G	NP_000129.3:p.Cys685Trp	NC_000015.9:g.48796042G>A,NC_000015.9:g.48796042G>C,NC_000015.9:g.48796042G>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.2055C>T (p.Cys685=)	2200	FBN1	Benign	140603	RCV000029704; RCV000181397;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN169374	15	48796042	48796042	NM_000138.4:c.2055C>T	NP_000129.3:p.Cys685=	NC_000015.9:g.48796042G>A,NC_000015.9:g.48796042G>C,NC_000015.9:g.48796042G>T	-	C0024796 154700 Marfan syndrome; CN169374 not specified
NM_000138.4(FBN1):c.1948C>T (p.Arg650Cys)	2200	FBN1	Likely pathogenic	193922185	RCV000029702;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48797234	48797234	NM_000138.4:c.1948C>T	NP_000129.3:p.Arg650Cys	NC_000015.9:g.48797234G>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.1909T>C (p.Cys637Arg)	2200	FBN1	Likely pathogenic	869025404	RCV000208087;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48797273	48797273	NM_000138.4:c.1909T>C	NP_000129.3:p.Cys637Arg	NC_000015.9:g.48797273A>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.1879C>T (p.Arg627Cys)	2200	FBN1	Pathogenic	727503057	RCV000150704;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48797303	48797303	NM_000138.4:c.1879C>T	NP_000129.3:p.Arg627Cys	NC_000015.9:g.48797303G>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.1837+1G>T	2200	FBN1	Likely pathogenic	397515762	RCV000035126;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48800778	48800778	NM_000138.4:c.1837+1G>T		NC_000015.9:g.48800778C>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.1746C>T (p.Cys582=)	2200	FBN1	Benign	112366266	RCV000029701; RCV000035125; RCV000206235;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN118826, Orphanet:ORPHA91387; MedGen:CN169374	15	48800870	48800870	NM_000138.4:c.1746C>T	NP_000129.3:p.Cys582=	NC_000015.9:g.48800870G>A	-	C0024796 154700 Marfan syndrome; CN169374 not specified; CN118826 Thoracic aortic aneurysm and aortic dissection
NM_000138.4(FBN1):c.1744_1745delTG (p.Cys582Profs)	2200	FBN1	Likely pathogenic	869025420	RCV000208330;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48800871	48800872	NM_000138.4:c.1744_1745delTG	NP_000129.3:p.Cys582Profs	NC_000015.9:g.48800871_48800872delCA	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.1714+54delA	2200	FBN1	not provided	193922184	RCV000029700;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48802187	48802187	NM_000138.4:c.1714+54delA		NC_000015.9:g.48802187delT	-	C0024796 154700 Marfan syndrome
NG_008805.2:g.140747delT	2200	FBN1	Likely pathogenic	-1	RCV000216719;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48802239	48802239	NM_000138.4:c.1714+2delT			-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.1710T>A (p.Cys570Ter)	2200	FBN1	Likely pathogenic	193922183	RCV000029699;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48802245	48802245	NM_000138.4:c.1710T>A	NP_000129.3:p.Cys570Ter	NC_000015.9:g.48802245A>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.1709delG (p.Cys570Leufs)	2200	FBN1	Likely pathogenic	193922182	RCV000029698;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48802246	48802246	NM_000138.4:c.1709delG	NP_000129.3:p.Cys570Leufs	NC_000015.9:g.48802246delC	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.1669_1677dupTGTAATGCG (p.Ala559_Gly560insCysAsnAla)	2200	FBN1	Likely pathogenic	193922181	RCV000029697;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48802278	48802286	NM_000138.4:c.1669_1677dupTGTAATGCG	NP_000129.3:p.Ala559_Gly560insCysAsnAla	NC_000015.9:g.48802278_48802286dupCGCATTACA	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.1643A>T (p.Asn548Ile)	2200	FBN1	Pathogenic	137854462	RCV000017894;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48802312	48802312	NM_000138.4:c.1643A>T	NP_000129.3:p.Asn548Ile	NC_000015.9:g.48802312T>A	OMIM Allelic Variant:134797.0010	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.1634G>A (p.Arg545His)	2200	FBN1	Likely pathogenic	193922179	RCV000029694;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48802321	48802321	NM_000138.4:c.1634G>A	NP_000129.3:p.Arg545His	NC_000015.9:g.48802321C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys)	2200	FBN1	Pathogenic	730880099	RCV000157225;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48802322	48802322	NM_000138.4:c.1633C>T	NP_000129.3:p.Arg545Cys	NC_000015.9:g.48802322G>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.1601G>A (p.Cys534Tyr)	2200	FBN1	Likely pathogenic	397515759	RCV000035121;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48802354	48802354	NM_000138.4:c.1601G>A	NP_000129.3:p.Cys534Tyr	NC_000015.9:g.48802354C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.1585C>T (p.Arg529Ter)	2200	FBN1	Pathogenic	137854476	RCV000017915; RCV000181685;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN118826, Orphanet:ORPHA91387	15	48805749	48805749	NM_000138.4:c.1585C>T	NP_000129.3:p.Arg529Ter	NC_000015.9:g.48805749G>A	OMIM Allelic Variant:134797.0033	C0024796 154700 Marfan syndrome; CN118826 Thoracic aortic aneurysm and aortic dissection
NM_000138.4(FBN1):c.1561_1562delAG (p.Ser521Hisfs)	2200	FBN1	Likely pathogenic	397515758	RCV000035119;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48805772	48805773	NM_000138.4:c.1561_1562delAG	NP_000129.3:p.Ser521Hisfs	NC_000015.9:g.48805772_48805773delCT	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.1546C>T (p.Arg516Ter)	2200	FBN1	Pathogenic	113812345	RCV000035118; RCV000181420;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN221809	15	48805788	48805788	NM_000138.4:c.1546C>T	NP_000129.3:p.Arg516Ter	NC_000015.9:g.48805788G>A	-	C0024796 154700 Marfan syndrome; CN221809 not provided
NM_000138.4(FBN1):c.1496G>A (p.Cys499Tyr)	2200	FBN1	Pathogenic	587782944	RCV000143890;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48805838	48805838	NM_000138.4:c.1496G>A	NP_000129.3:p.Cys499Tyr	NC_000015.9:g.48805838C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.1468+5G>A	2200	FBN1	Pathogenic	397515757	RCV000035117; RCV000181432;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN221809	15	48807579	48807579	NM_000138.4:c.1468+5G>A		NC_000015.9:g.48807579C>T	-	C0024796 154700 Marfan syndrome; CN221809 not provided
NM_000138.4(FBN1):c.1345G>A (p.Val449Ile)	2200	FBN1	Uncertain significance	139058991	RCV000148499;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48807707	48807707	NM_000138.4:c.1345G>A	NP_000129.3:p.Val449Ile	NC_000015.9:g.48807707C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.1335dupG (p.Pro446Alafs)	2200	FBN1	Pathogenic	730880356	RCV000156089;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48807717	48807717	NM_000138.4:c.1335dupG	NP_000129.3:p.Pro446Alafs	NC_000015.9:g.48807717dupC	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.1285C>T (p.Arg429Ter)	2200	FBN1	Pathogenic	112645512	RCV000157224;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48808422	48808422	NM_000138.4:c.1285C>T	NP_000129.3:p.Arg429Ter	NC_000015.9:g.48808422G>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.1211delC (p.Pro404Hisfs)	2200	FBN1	Likely pathogenic	112289537	RCV000029693;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48808496	48808496	NM_000138.4:c.1211delC	NP_000129.3:p.Pro404Hisfs	NC_000015.9:g.48808496delG	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.1192A>T (p.Arg398Ter)	2200	FBN1	Pathogenic	397515754	RCV000035114;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48808515	48808515	NM_000138.4:c.1192A>T	NP_000129.3:p.Arg398Ter	NC_000015.9:g.48808515T>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.1156_1167delAACAAGCTGTGC (p.Asn386_Cys389del)	2200	FBN1	Pathogenic	672601352	RCV000149455;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48808540	48808551	NM_000138.4:c.1156_1167delAACAAGCTGTGC	NP_000129.3:p.Asn386_Cys389del	NC_000015.9:g.48808540_48808551delGCACAGCTTGTT	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.1148-2A>G	2200	FBN1	Pathogenic	397515756	RCV000035116;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48808561	48808561	NM_000138.4:c.1148-2A>G		NC_000015.9:g.48808561T>C,NC_000015.9:g.48808561T>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.1095C>A (p.Cys365Ter)	2200	FBN1	Pathogenic	397515755	RCV000035115;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48812908	48812908	NM_000138.4:c.1095C>A	NP_000129.3:p.Cys365Ter	NC_000015.9:g.48812908G>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.1051C>T (p.Gln351Ter)	2200	FBN1	Pathogenic	397515753	RCV000035113;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48812952	48812952	NM_000138.4:c.1051C>T	NP_000129.3:p.Gln351Ter	NC_000015.9:g.48812952G>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.1027G>A (p.Gly343Arg)	2200	FBN1	Uncertain significance	146726731	RCV000148500; RCV000181421;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN169374	15	48812976	48812976	NM_000138.4:c.1027G>A	NP_000129.3:p.Gly343Arg	NC_000015.9:g.48812976C>T	-	C0024796 154700 Marfan syndrome; CN169374 not specified
NM_000138.4(FBN1):c.986T>C (p.Ile329Thr)	2200	FBN1	Benign	12324002	RCV000029796; RCV000035295;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN169374	15	48818329	48818329	NM_000138.4:c.986T>C	NP_000129.3:p.Ile329Thr	NC_000015.9:g.48818329A>G	-	C0024796 154700 Marfan syndrome; CN169374 not specified
NM_000138.4(FBN1):c.958dupT (p.Tyr320Leufs)	2200	FBN1	Pathogenic	397515867	RCV000035294;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48818357	48818357	NM_000138.4:c.958dupT	NP_000129.3:p.Tyr320Leufs	NC_000015.9:g.48818357dupA	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.718C>T (p.Arg240Cys)	2200	FBN1	Pathogenic	137854480	RCV000017924; RCV000017925; RCV000181681;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:C1851286,OMIM:129600; MedGen:CN221809	15	48829826	48829826	NM_000138.4:c.718C>T	NP_000129.3:p.Arg240Cys	NC_000015.9:g.48829826G>A	OMIM Allelic Variant:134797.0042	C1851286 129600 Ectopia lentis, isolated, autosomal dominant; C0024796 154700 Marfan syndrome; CN221809 not provided
NM_000138.4(FBN1):c.660delC (p.Cys221Valfs)	2200	FBN1	Pathogenic	727505269	RCV000156795;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48829884	48829884	NM_000138.4:c.660delC	NP_000129.3:p.Cys221Valfs	NC_000015.9:g.48829884delG	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.649T>G (p.Trp217Gly)	2200	FBN1	Likely pathogenic	193922224	RCV000029763;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48829895	48829895	NM_000138.4:c.649T>G	NP_000129.3:p.Trp217Gly	NC_000015.9:g.48829895A>C	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.643C>T (p.Arg215Ter)	2200	FBN1	Pathogenic	111687884	RCV000035243;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48829901	48829901	NM_000138.4:c.643C>T	NP_000129.3:p.Arg215Ter	NC_000015.9:g.48829901G>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.561delT (p.Phe187Leufs)	2200	FBN1	Likely pathogenic	397515825	RCV000035231;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48829983	48829983	NM_000138.4:c.561delT	NP_000129.3:p.Phe187Leufs	NC_000015.9:g.48829983delA	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.556T>C (p.Cys186Arg)	2200	FBN1	Likely pathogenic	193922215	RCV000029753;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48829988	48829988	NM_000138.4:c.556T>C	NP_000129.3:p.Cys186Arg	NC_000015.9:g.48829988A>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.539-15delA	2200	FBN1	Benign;Uncertain significance	193922211	RCV000029749; RCV000181396;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN118826, Orphanet:ORPHA91387	15	48830020	48830020	NM_000138.4:c.539-15delA		NC_000015.9:g.48830020delT	-	C0024796 154700 Marfan syndrome; CN118826 Thoracic aortic aneurysm and aortic dissection
NM_000138.4(FBN1):c.529T>C (p.Cys177Arg)	2200	FBN1	Likely pathogenic	363853	RCV000035222;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48888489	48888489	NM_000138.4:c.529T>C	NP_000129.3:p.Cys177Arg	NC_000015.9:g.48888489A>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.510C>G (p.Tyr170Ter)	2200	FBN1	Likely pathogenic	111671429	RCV000029747;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48888508	48888508	NM_000138.4:c.510C>G	NP_000129.3:p.Tyr170Ter	NC_000015.9:g.48888508G>A,NC_000015.9:g.48888508G>C	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.510C>T (p.Tyr170=)	2200	FBN1	Benign;Likely benign	111671429	RCV000029748; RCV000035220;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN169374	15	48888508	48888508	NM_000138.4:c.510C>T	NP_000129.3:p.Tyr170=	NC_000015.9:g.48888508G>A,NC_000015.9:g.48888508G>C	-	C0024796 154700 Marfan syndrome; CN169374 not specified
NM_000138.4(FBN1):c.497G>C (p.Cys166Ser)	2200	FBN1	Likely pathogenic	397515818	RCV000035218;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48888521	48888521	NM_000138.4:c.497G>C	NP_000129.3:p.Cys166Ser	NC_000015.9:g.48888521C>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.493C>T (p.Arg165Ter)	2200	FBN1	Pathogenic	113905529	RCV000035214;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48888525	48888525	NM_000138.4:c.493C>T	NP_000129.3:p.Arg165Ter	NC_000015.9:g.48888525G>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.484G>A (p.Ala162Thr)	2200	FBN1	Likely pathogenic	193922210	RCV000029745;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48888534	48888534	NM_000138.4:c.484G>A	NP_000129.3:p.Ala162Thr	NC_000015.9:g.48888534C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.454A>T (p.Ser152Cys)	2200	FBN1	Likely pathogenic	193922206	RCV000029739;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48888564	48888564	NM_000138.4:c.454A>T	NP_000129.3:p.Ser152Cys	NC_000015.9:g.48888564T>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.385T>G (p.Cys129Gly)	2200	FBN1	Pathogenic	199474693	RCV000114817;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48892393	48892393	NM_000138.4:c.385T>G	NP_000129.3:p.Cys129Gly	NC_000015.9:g.48892393A>C	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.368G>A (p.Cys123Tyr)	2200	FBN1	Pathogenic	397515794	RCV000035178;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48892410	48892410	NM_000138.4:c.368G>A	NP_000129.3:p.Cys123Tyr	NC_000015.9:g.48892410C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.364C>T (p.Arg122Cys)	2200	FBN1	Pathogenic	137854467	RCV000029732; RCV000017902; RCV000181647;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:C4016055; MedGen:CN221809	15	48892414	48892414	NM_000138.4:c.364C>T	NP_000129.3:p.Arg122Cys	NC_000015.9:g.48892414G>A	OMIM Allelic Variant:134797.0018	C0024796 154700 Marfan syndrome; C4016055 Marfan syndrome, atypical; CN221809 not provided
NM_000138.4(FBN1):c.338C>G (p.Ser113Cys)	2200	FBN1	Likely pathogenic	869025403	RCV000208445;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48902933	48902933	NM_000138.4:c.338C>G	NP_000129.3:p.Ser113Cys	NC_000015.9:g.48902933G>C	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.320_321delTA (p.Ile107Serfs)	2200	FBN1	Likely pathogenic	730880108	RCV000157235;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48902950	48902951	NM_000138.4:c.320_321delTA	NP_000129.3:p.Ile107Serfs	NC_000015.9:g.48902950_48902951delTA	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.299G>T (p.Cys100Phe)	2200	FBN1	Likely pathogenic	397515782	RCV000035157;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48902972	48902972	NM_000138.4:c.299G>T	NP_000129.3:p.Cys100Phe	NC_000015.9:g.48902972C>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.299G>A (p.Cys100Tyr)	2200	FBN1	Likely pathogenic	397515782	RCV000220364;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48902972	48902972	NM_000138.4:c.299G>A	NP_000129.3:p.Cys100Tyr		-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.281G>T (p.Cys94Phe)	2200	FBN1	Likely pathogenic	730880098	RCV000157223;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48902990	48902990	NM_000138.4:c.281G>T	NP_000129.3:p.Cys94Phe	NC_000015.9:g.48902990C>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.268_269delGGinsC (p.Gly90Argfs)	2200	FBN1	Likely pathogenic	397515778	RCV000035148;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48903002	48903003	NM_000138.4:c.268_269delGGinsC	NP_000129.3:p.Gly90Argfs	NC_000015.9:g.48903002_48903003delCCinsG	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.266G>C (p.Cys89Ser)	2200	FBN1	Likely pathogenic	112660651	RCV000029715;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48903005	48903005	NM_000138.4:c.266G>C	NP_000129.3:p.Cys89Ser	NC_000015.9:g.48903005C>G,NC_000015.9:g.48903005C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.247+1G>A	2200	FBN1	Pathogenic	25404	RCV000035141; RCV000181642;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN221809	15	48905206	48905206	NM_000138.4:c.247+1G>A		NC_000015.9:g.48905206C>T	-	C0024796 154700 Marfan syndrome; CN221809 not provided
NM_000138.4(FBN1):c.239G>A (p.Cys80Tyr)	2200	FBN1	Likely pathogenic	397515767	RCV000035136;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48905215	48905215	NM_000138.4:c.239G>A	NP_000129.3:p.Cys80Tyr	NC_000015.9:g.48905215C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.185G>A (p.Arg62His)	2200	FBN1	Likely pathogenic	145942328	RCV000035130;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48905269	48905269	NM_000138.4:c.185G>A	NP_000129.3:p.Arg62His	NC_000015.9:g.48905269C>T	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.184C>T (p.Arg62Cys)	2200	FBN1	Pathogenic	25403	RCV000035129;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48905270	48905270	NM_000138.4:c.184C>T	NP_000129.3:p.Arg62Cys	NC_000015.9:g.48905270G>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.165-32delT	2200	FBN1	Uncertain significance	193922180	RCV000029695;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48905321	48905321	NM_000138.4:c.165-32delT		NC_000015.9:g.48905321delA	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.165-40_165-38delCTT	2200	FBN1	Uncertain significance	386134232	RCV000029696;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48905327	48905329	NM_000138.4:c.165-40_165-38delCTT		NC_000015.9:g.48905327_48905329delAAG	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.164+2T>C	2200	FBN1	Likely pathogenic	727503058	RCV000150706;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48936801	48936801	NM_000138.4:c.164+2T>C		NC_000015.9:g.48936801A>G	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.83A>G (p.Asn28Ser)	2200	FBN1	Likely pathogenic;Uncertain significance	193922245	RCV000029793; RCV000181490;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN169374	15	48936884	48936884	NM_000138.4:c.83A>G	NP_000129.3:p.Asn28Ser	NC_000015.9:g.48936884T>C	-	C0024796 154700 Marfan syndrome; CN169374 not specified
NM_000138.4(FBN1):c.59A>G (p.Tyr20Cys)	2200	FBN1	Likely benign;Uncertain significance	201309310	RCV000148501; RCV000175527; RCV000181402;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN169374; MedGen:CN221809	15	48936908	48936908	NM_000138.4:c.59A>G	NP_000129.3:p.Tyr20Cys	NC_000015.9:g.48936908T>C	-	C0024796 154700 Marfan syndrome; CN221809 not provided; CN169374 not specified
NM_000138.4(FBN1):c.56C>T (p.Ser19Phe)	2200	FBN1	Likely pathogenic	193922218	RCV000029756;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48936911	48936911	NM_000138.4:c.56C>T	NP_000129.3:p.Ser19Phe	NC_000015.9:g.48936911G>A	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.32_42delTGGGATTTACC (p.Leu11Argfs)	2200	FBN1	Likely pathogenic	397515785	RCV000035162;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48936925	48936935	NM_000138.4:c.32_42delTGGGATTTACC	NP_000129.3:p.Leu11Argfs	NC_000015.9:g.48936925_48936935delGGTAAATCCCA	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.1A>G (p.Met1Val)	2200	FBN1	Likely pathogenic	730880097	RCV000157222;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48936966	48936966	NM_000138.4:c.1A>G	NP_000129.3:p.Met1Val	NC_000015.9:g.48936966T>C	-	C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.-117delA	2200	FBN1	Uncertain significance	193922178	RCV000029692;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	15	48937083	48937083	NM_000138.4:c.-117delA		NC_000015.9:g.48937083delT	-	C0024796 154700 Marfan syndrome
NM_001999.3(FBN2):c.7771A>G (p.Thr2591Ala)	2201	FBN2	Uncertain significance	869025429	RCV000208384;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	5	127609601	127609601	NM_001999.3:c.7771A>G	NP_001990.2:p.Thr2591Ala	NC_000005.9:g.127609601T>C	-	C0024796 154700 Marfan syndrome
NM_000428.2(LTBP2):c.4720+7G>A	4053	LTBP2	Uncertain significance	137854885	RCV000114804;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	14	74970165	74970165	NM_000428.2:c.4720+7G>A		NC_000014.8:g.74970165C>T	-	C0024796 154700 Marfan syndrome
NM_000428.2(LTBP2):c.1642C>T (p.Arg548Ter)	4053	LTBP2	Pathogenic	137854855	RCV000114808;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	14	75017811	75017811	NM_000428.2:c.1642C>T	NP_000419.1:p.Arg548Ter	NC_000014.8:g.75017811G>A	-	C0024796 154700 Marfan syndrome
NM_001040113.1(MYH11):c.2517G>C (p.Trp839Cys)	4629	MYH11	Uncertain significance	369196744	RCV000157331;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	16	15839010	15839010	NM_001040113.1:c.2517G>C	NP_001035202.1:p.Trp839Cys	NC_000016.9:g.15839010C>G	-	C0024796 154700 Marfan syndrome
NM_017617.4(NOTCH1):c.6205G>A (p.Ala2069Thr)	4851	NOTCH1	Uncertain significance	567909904	RCV000208466;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006	9	139391986	139391986	NM_017617.4:c.6205G>A	NP_060087.3:p.Ala2069Thr	NC_000009.11:g.139391986C>T	-	C0024796 154700 Marfan syndrome
NM_017617.4(NOTCH1):c.3901+3G>A	4851	NOTCH1	Likely benign	373113999	RCV000143940; RCV000143941;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:CN118826, Orphanet:ORPHA91387	9	139401165	139401165	NM_017617.4:c.3901+3G>A			-	C0024796 154700 Marfan syndrome; CN118826 Thoracic aortic aneurysm and aortic dissection