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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: Aortic aneurysm, familial thoracic 3 (C537783)
Parent Node: Diseases (C)
..Starting node ..LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Child Nodes:
Sister Nodes:
..AARSKOG SYNDROME, AUTOSOMAL DOMINANT (OMIM:100050)
..ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE (OMIM:201250)
..Animal Diseases (D000820) 139
..AORTIC VALVE DISEASE 1 (OMIM:109730)
..ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS (OMIM:108900)
..AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
..AXENFELD-RIEGER SYNDROME, TYPE 2 (OMIM:601499)
..AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
..Bacterial Infections and Mycoses (D001423) 620
..BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA (OMIM:251290)
..BRACHYDACTYLY, TYPE E1 (OMIM:113300)
..BRACHYDACTYLY-MENTAL RETARDATION SYNDROME (OMIM:600430)
..CAPILLARY MALFORMATIONS, CONGENITAL (OMIM:163000)
..Cardiovascular Diseases (D002318) 1025
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
..Chemically-Induced Disorders (D064419) 111
..CHROMOSOME 13q14 DELETION SYNDROME (OMIM:613884)
..CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
..CHROMOSOME 8q21.11 DELETION SYNDROME (OMIM:614230)
..Congenital, Hereditary, and Neonatal Diseases and Abnormalities (D009358) 4904
..CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
..COUSIN SYNDROME (OMIM:260660)
..CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
..CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
..D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
..DEAFNESS, AUTOSOMAL RECESSIVE 18A (OMIM:602092)
..DEAFNESS, AUTOSOMAL RECESSIVE 8 (OMIM:601072)
..Digestive System Diseases (D004066) 640
..Disorders of Environmental Origin (D007280) 4
..ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
..ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE (OMIM:225100)
..EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 (OMIM:601776)
..Endocrine System Diseases (D004700) 742
..Eye Diseases (D005128) 1278
..Female Urogenital Diseases and Pregnancy Complications (D005261) 962
..FRONTONASAL DYSPLASIA 1 (OMIM:136760)
..FRONTONASAL DYSPLASIA 2 (OMIM:613451)
..FRONTONASAL DYSPLASIA 3 (OMIM:613456)
..GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
..GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
..GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS (OMIM:138800)
..GREENBERG DYSPLASIA (OMIM:215140)
..Hemic and Lymphatic Diseases (D006425) 790
..HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
..HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
..HYPOTRICHOSIS 2 (OMIM:146520)
..ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11 (OMIM:602400)
..Immune System Diseases (D007154) 597
..IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
..KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:613702)
..LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
..Male Urogenital Diseases (D052801) 765
..MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME (OMIM:277000)
..MEGALOBLASTIC ANEMIA 1 (OMIM:261100)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 (OMIM:155601)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 (OMIM:609048)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4 (OMIM:608035)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 (OMIM:613099)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7 (OMIM:612263)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 (OMIM:614456)
..Mental Disorders (D001523) 1080
..METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT (OMIM:613646)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
..MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
..MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
..MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
..MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
..Musculoskeletal Diseases (D009140) 2320
..MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (OMIM:607948)
..MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 1 (OMIM:607949)
..MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 2 (OMIM:611046)
..MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 3 (OMIM:612929)
..MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, X-LINKED (OMIM:300259)
..MYOPATHY, SPHEROID BODY (OMIM:182920)
..Neoplasms (D009369) 1125
..Nervous System Diseases (D009422) 3641
..NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
..NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
..NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A (OMIM:310500)
..NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B (OMIM:257270)
..NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C (OMIM:613216)
..NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A (OMIM:300071)
..NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR (OMIM:607721)
..NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
..Nutritional and Metabolic Diseases (D009750) 1518
..Occupational Diseases (D009784) 28
..Otorhinolaryngologic Diseases (D010038) 602
..OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA (OMIM:215150)
..PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL (OMIM:613000)
..Parasitic Diseases (D010272) 178
..Pathological Conditions, Signs and Symptoms (D013568) 3149
..POLYDACTYLY, PREAXIAL II (OMIM:174500)
..PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
..PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA (OMIM:113900)
..PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
..RENAL TUBULAR DYSGENESIS (OMIM:267430)
..Respiratory Tract Diseases (D012140) 422
..SCAPULOPERONEAL MYOPATHY, MYH7-RELATED (OMIM:181430)
..SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
..Skin and Connective Tissue Diseases (D017437) 1491
..SPLIT-HAND/FOOT MALFORMATION 2 (OMIM:313350)
..SPLIT-HAND/FOOT MALFORMATION 3 (OMIM:246560)
..SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
..SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE (OMIM:608681)
..SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE (OMIM:609813)
..SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
..SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
..Stomatognathic Diseases (D009057) 594
..THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:612304)
..VAN DER WOUDE SYNDROME 1, MODIFIER OF (OMIM:604547)
..VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
..VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2 (OMIM:611938)
..VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3 (OMIM:614021)
..Virus Diseases (D014777) 307
..VISCERAL MYOPATHY (OMIM:155310)
..WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
..Wounds and Injuries (D014947) 274
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6516

Name:

LOEYS-DIETZ SYNDROME 2

Definition:

Alternative IDs:

ParentIDs:

MESH:C537783

TreeNumbers:

C05.660.207.532/C537783/610168 |C14.907.055.050.362/C537783/610168 |C14.907.055.239.125/C537783/610168 |C14.907.055.239.587/C537783/610168 |C14.907.109.139.125/C537783/610168 |C14.907.109.139.587/C537783/610168 |C16.131.077.537/C537783/610168 |C16.320.510/C5377

Synonyms:

AAT3 |AORTIC ANEURYSM, FAMILIAL THORACIC 3 |LDS2 |MARFAN SYNDROME, TYPE II, FORMERLY

Slim Mappings:

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

Reference:

MedGen: 610168
MeSH: 610168
OMIM: 610168;

Genes: TGFBR2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0005807	Absent distal phalanges	HP:0040283
3	HP:0001166	Arachnodactyly
4	HP:0002308	Arnold-Chiari malformation	HP:0040283
5	HP:0004933	Ascending aortic dissection
6	HP:0004970	Ascending tubular aorta aneurysm
7	HP:0001631	Atrial septal defect	HP:0040283
8	HP:0001647	Bicuspid aortic valve	HP:0040283
9	HP:0005182	Bicuspid pulmonary valve	HP:0040283
10	HP:0000193	Bifid uvula
11	HP:0000592	Blue sclerae
12	HP:0001156	Brachydactyly
13	HP:0012385	Camptodactyly
14	HP:0000175	Cleft palate	HP:0040283
15	HP:0001363	Craniosynostosis	HP:0040283
16	HP:0010648	Dermal translucency
17	HP:0004959	Descending thoracic aorta aneurysm	HP:0040283
18	HP:0004944	Dilatation of the cerebral artery	HP:0040283
19	HP:0001519	Disproportionate tall stature	HP:0040283
20	HP:0001083	Ectopia lentis
21	HP:0000577	Exotropia
22	HP:0004955	Generalized arterial tortuosity
23	HP:0001263	Global developmental delay	HP:0040283
24	HP:0001425	Heterogeneous
25	HP:0000238	Hydrocephalus	HP:0040283
26	HP:0000316	Hypertelorism
27	HP:0000023	Inguinal hernia	HP:0040283
28	HP:0001249	Intellectual disability	HP:0040283
29	HP:0009473	Joint contracture of the hand
30	HP:0001388	Joint laxity
31	HP:0000272	Malar flattening
32	HP:0000347	Micrognathia
33	HP:0001634	Mitral valve prolapse	HP:0040283
34	HP:0000939	Osteoporosis	HP:0040283
35	HP:0001643	Patent ductus arteriosus
36	HP:0000768	Pectus carinatum
37	HP:0000767	Pectus excavatum
38	HP:0001763	Pes planus
39	HP:0010442	Polydactyly	HP:0040283
40	HP:0100259	Postaxial polydactyly	HP:0040283
41	HP:0000520	Proptosis
42	HP:0003179	Protrusio acetabuli
43	HP:0004937	Pulmonary artery aneurysm
44	HP:0000278	Retrognathia
45	HP:0002650	Scoliosis
46	HP:0003302	Spondylolisthesis
47	HP:0002108	Spontaneous pneumothorax
48	HP:0001065	Striae distensae
49	HP:0001159	Syndactyly	HP:0040283
50	HP:0001762	Talipes equinovarus
51	HP:0001537	Umbilical hernia	HP:0040283

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_003242.5(TGFBR2):c.923T>C (p.Leu308Pro)	7048	TGFBR2	Pathogenic	28934568	RCV000013329;	N	MedGen:C2674876,OMIM:610168	3	30713598	30713598	NM_003242.5:c.923T>C	NP_003233.4:p.Leu308Pro	NC_000003.11:g.30713598T>C	OMIM Allelic Variant:190182.0005	C2674876 610168 Loeys-Dietz syndrome 2
NM_003242.5(TGFBR2):c.1006T>A (p.Tyr336Asn)	7048	TGFBR2	Pathogenic	104893812	RCV000013332;	N	MedGen:C2674876,OMIM:610168	3	30713681	30713681	NM_003242.5:c.1006T>A	NP_003233.4:p.Tyr336Asn	NC_000003.11:g.30713681T>A	OMIM Allelic Variant:190182.0008	C2674876 610168 Loeys-Dietz syndrome 2
NM_003242.5(TGFBR2):c.1063G>C (p.Ala355Pro)	7048	TGFBR2	Pathogenic	104893813	RCV000013333;	N	MedGen:C2674876,OMIM:610168	3	30713738	30713738	NM_003242.5:c.1063G>C	NP_003233.4:p.Ala355Pro	NC_000003.11:g.30713738G>C	OMIM Allelic Variant:190182.0009	C2674876 610168 Loeys-Dietz syndrome 2
NM_003242.5(TGFBR2):c.1069G>T (p.Gly357Trp)	7048	TGFBR2	Pathogenic	104893814	RCV000013334;	N	MedGen:C2674876,OMIM:610168	3	30713744	30713744	NM_003242.5:c.1069G>T	NP_003233.4:p.Gly357Trp	NC_000003.11:g.30713744G>T	OMIM Allelic Variant:190182.0010	C2674876 610168 Loeys-Dietz syndrome 2
NM_003242.5(TGFBR2):c.1273A>G (p.Met425Val)	7048	TGFBR2	Pathogenic	104893817	RCV000013342;	N	MedGen:C2674876,OMIM:610168	3	30715615	30715615	NM_003242.5:c.1273A>G	NP_003233.4:p.Met425Val	NC_000003.11:g.30715615A>G	OMIM Allelic Variant:190182.0017	C2674876 610168 Loeys-Dietz syndrome 2
NM_003242.5(TGFBR2):c.1280C>T (p.Pro427Leu)	7048	TGFBR2	Pathogenic	104893818	RCV000013343;	N	MedGen:C2674876,OMIM:610168	3	30715622	30715622	NM_003242.5:c.1280C>T	NP_003233.4:p.Pro427Leu	NC_000003.11:g.30715622C>T	OMIM Allelic Variant:190182.0018	C2674876 610168 Loeys-Dietz syndrome 2
NM_003242.5(TGFBR2):c.1346C>T (p.Ser449Phe)	7048	TGFBR2	Pathogenic	104893807	RCV000013330;	N	MedGen:C2674876,OMIM:610168	3	30715688	30715688	NM_003242.5:c.1346C>T	NP_003233.4:p.Ser449Phe	NC_000003.11:g.30715688C>T	OMIM Allelic Variant:190182.0006	C2674876 610168 Loeys-Dietz syndrome 2
NM_003242.5(TGFBR2):c.1378C>T (p.Arg460Cys)	7048	TGFBR2	Pathogenic	104893811	RCV000013339; RCV000199227;	N	MedGen:C2674876,OMIM:610168; MedGen:CN221809	3	30715720	30715720	NM_003242.5:c.1378C>T	NP_003233.4:p.Arg460Cys	NC_000003.11:g.30715720C>T	OMIM Allelic Variant:190182.0014	C2674876 610168 Loeys-Dietz syndrome 2; CN221809 not provided
NM_003242.5(TGFBR2):c.1379G>A (p.Arg460His)	7048	TGFBR2	Pathogenic	104893816	RCV000013340; RCV000196002;	N	MedGen:C2674876,OMIM:610168; MedGen:CN221809	3	30715721	30715721	NM_003242.5:c.1379G>A	NP_003233.4:p.Arg460His	NC_000003.11:g.30715721G>A	OMIM Allelic Variant:190182.0015	C2674876 610168 Loeys-Dietz syndrome 2; CN221809 not provided
NM_001024847.2(TGFBR2):c.1472-2A>G	7048	TGFBR2	Pathogenic	587776770	RCV000013341;	N	MedGen:C2674876,OMIM:610168	3	30729874	30729874	NM_001024847.2:c.1472-2A>G		3:g.30729874A>G	OMIM Allelic Variant:190182.0016	C2674876 610168 Loeys-Dietz syndrome 2
NM_003242.5(TGFBR2):c.1408T>G (p.Tyr470Asp)	7048	TGFBR2	Likely pathogenic	863224935	RCV000197170;	N	MedGen:C2674876,OMIM:610168	3	30729887	30729887	NM_003242.5:c.1408T>G	NP_003233.4:p.Tyr470Asp	NC_000003.11:g.30729887T>G	-	C2674876 610168 Loeys-Dietz syndrome 2
NM_003242.5(TGFBR2):c.1483C>T (p.Arg495Ter)	7048	TGFBR2	Likely pathogenic;Pathogenic	104893819	RCV000013344; RCV000157519; RCV000195964;	N	MedGen:C2674876,OMIM:610168; MedGen:C2697932, Orphanet:ORPHA60030,SNOMED CT:446263001; MedGen:CN221809	3	30729962	30729962	NM_003242.5:c.1483C>T	NP_003233.4:p.Arg495Ter	NC_000003.11:g.30729962C>T	OMIM Allelic Variant:190182.0019	C2697932 Loeys-Dietz syndrome; C2674876 610168 Loeys-Dietz syndrome 2; CN221809 not provided
NM_003242.5(TGFBR2):c.1524G>A (p.Gln508=)	7048	TGFBR2	Pathogenic	121918715	RCV000013327;	N	MedGen:C2674876,OMIM:610168	3	30730003	30730003	NM_003242.5:c.1524G>A	NP_003233.4:p.Gln508=	NC_000003.11:g.30730003G>A	OMIM Allelic Variant:190182.0004	C2674876 610168 Loeys-Dietz syndrome 2
NM_003242.5(TGFBR2):c.1582C>T (p.Arg528Cys)	7048	TGFBR2	Pathogenic	104893810	RCV000013337; RCV000197944;	N	MedGen:C2674876,OMIM:610168; MedGen:CN221809	3	30732969	30732969	NM_003242.5:c.1582C>T	NP_003233.4:p.Arg528Cys	NC_000003.11:g.30732969C>T	OMIM Allelic Variant:190182.0012	C2674876 610168 Loeys-Dietz syndrome 2; CN221809 not provided
NM_003242.5(TGFBR2):c.1583G>A (p.Arg528His)	7048	TGFBR2	Pathogenic	104893815	RCV000013336; RCV000013335; RCV000211858; RCV000200178;	N	MedGen:C1860896,OMIM:614331; MedGen:C2674876,OMIM:610168; MedGen:C2697932, Orphanet:ORPHA60030,SNOMED CT:446263001; MedGen:CN221809	3	30732970	30732970	NM_003242.5:c.1583G>A	NP_003233.4:p.Arg528His	NC_000003.11:g.30732970G>A	OMIM Allelic Variant:190182.0011	C1860896 614331 Hereditary nonpolyposis colorectal cancer type 6; C2697932 Loeys-Dietz syndrome; C2674876 610168 Loeys-Dietz syndrome 2; CN221809 not provided
NM_003242.5(TGFBR2):c.1609C>T (p.Arg537Cys)	7048	TGFBR2	Pathogenic	104893809	RCV000013331; RCV000196289;	N	MedGen:C2674876,OMIM:610168; MedGen:CN221809	3	30732996	30732996	NM_003242.5:c.1609C>T	NP_003233.4:p.Arg537Cys	NC_000003.11:g.30732996C>T	OMIM Allelic Variant:190182.0007	C2674876 610168 Loeys-Dietz syndrome 2; CN221809 not provided