MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
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Mitral Valve Prolapse (D008945)
Parent Node:
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Myopia (D009216)
Parent Node:
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Skin Diseases (D012871)
..Starting node
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MASS syndrome (C536030)

       Child Nodes:



 Sister Nodes: 
..expandAcneiform Eruptions (D017486) Child5
..expandAngiolymphoid Hyperplasia with Eosinophilia (D000796)
..expandAUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME (OMIM:617099)
..expandBorrone Di Rocco Crovato syndrome (C536577)
..expandBoudhina Yedes Khiari syndrome (C537939)
..expandBreast Diseases (D001941) Child45
..expandC SYNDROME (OMIM:211750)
..expandCutaneous Fistula (D017577)
..expandDermatitis (D003872) Child57
..expandDermatoleukodystrophy (C538220)
..expandDermatomyositis (D003882) Child2
..expandEctodermal Dysplasia-Skin Fragility Syndrome (C536183)
..expandElastosis perforans serpiginosa (C536202)
..expandElliott Ludman Teebi syndrome (C536204)
..expandErythema (D004890) Child19
..expandExanthema (D005076) Child1
..expandEyebrows duplication of, with stretchable skin and syndactyly (C536383)
..expandFACES syndrome (C536384)
..expandFacial Dermatoses (D005148) Child11
..expandFlynn Aird syndrome (C537066)
..expandFoot Diseases (D005534) Child13
..expandHair Diseases (D006201) Child174  LSDB C:1
..expandHand Dermatoses (D006229) Child1
..expandHernandez Fragoso syndrome (C536062)
..expandINFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1 (OMIM:614328)
..expandINFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 (OMIM:616069)
..expandKeratoacanthoma (D007636) Child1
..expandKeratosis (D007642) Child149
..expandLeg Dermatoses (D007868)
..expandLipomatosis (D008068) Child11
..expandLupus Erythematosus, Cutaneous (D008178) Child3
..expandMacroepiphyseal dysplasia, McAlister Coe type (C537721)
..expandMASS syndrome (C536030)
..expandMastocytosis (D008415) Child9
..expandMedian cleft lip, corpus callosum, lipoma, and skin polyps (C536135)
..expandMental Retardation, Joint Hypermobility, And Skin Laxity, With Or Without Metabolic Abnormalities (C567209)
..expandMorgellons Disease (D055535)
..expandNail Diseases (D009260) Child42
..expandNecrobiotic Disorders (D017441) Child3
..expandNecrolytic Migratory Erythema (D058568)
..expandNephrogenic Fibrosing Dermopathy (D054989)
..expandOSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS (OMIM:612852)
..expandPanniculitis (D015434) Child6
..expandPeeling skin syndrome, acral type (C536316)
..expandPhotosensitivity Disorders (D010787) Child31
..expandPigmentation Disorders (D010859) Child147
..expandPROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
..expandPrurigo (D011536)
..expandPruritus (D011537) Child6
..expandPseudoatrophoderma Colli (C562909)
..expandPyoderma (D011711) Child3
..expandRosacea (D012393) Child1
..expandRoy Maroteaux Kremp syndrome (C535875)
..expandScalp Dermatoses (D012536) Child10
..expandScleredema Adultorum (D012592)
..expandScleroderma, Localized (D012594) Child5
..expandScleroderma, Systemic (D012595) Child7
..expandSebaceous Gland Diseases (D012625) Child12
..expandSkin Abnormalities (D012868) Child358  LSDB C:1
..expandSkin Diseases, Eczematous (D017443) Child35
..expandSkin Diseases, Genetic (D012873) Child462  LSDB C:1
..expandSkin Diseases, Infectious (D012874) Child103
..expandSkin Diseases, Metabolic (D012875) Child33
..expandSkin Diseases, Papulosquamous (D017444) Child26
..expandSkin Diseases, Vascular (D017445) Child33
..expandSkin Diseases, Vesiculobullous (D012872) Child54
..expandSkin Neoplasms (D012878) Child41
..expandSkin Ulcer (D012883) Child10
..expandSweat Gland Diseases (D013543) Child25
..expandUpton Young syndrome (C536473)
..expandXanthogranuloma, Juvenile (D014972)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7465
Name:MASS syndrome
Definition:
Alternative IDs:OMIM:604308
ParentIDs:MESH:D008945|MESH:D009216|MESH:D012871
TreeNumbers:C11.744.636/C536030 |C14.280.484.400.500/C536030 |C17.800/C536030
Synonyms:Mass phenotype |OCTD |Overlap connective tissue disease
Slim Mappings:Cardiovascular disease|Eye disease|Skin disease
Reference: MedGen: C536030
MeSH: C536030
OMIM: 604308;
MSeqDR LSDB:  
Genes: FBN1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000766Abnormality of the sternum
3 HP:0004942Aortic aneurysm
4 HP:0001519Disproportionate tall stature
5 HP:0001634Mitral valve prolapse
6 HP:0001065Striae distensae
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000138.4(FBN1):c.*2674T>A2200FBN1Likely benignrs142196699RCV000316295; RCV000373162; RCV000295161; RCV000346434; RCV000352186; RCV000385717; RCV000406036; RCV000293846; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487005134870051315:g.48700513A>T-
NM_000138.4(FBN1):c.*2638T>C2200FBN1Uncertain significancers886051219RCV000345212; RCV000356576; RCV000357644; RCV000265248; RCV000299294; RCV000402961; RCV000305140; RCV000306747; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487005494870054915:g.48700549A>G-
NM_000138.4(FBN1):c.*2594G>T2200FBN1Uncertain significancers886051220RCV000291758; RCV000344238; RCV000331555; RCV000317001; RCV000274188; RCV000383764; RCV000259402; RCV000387887; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487005934870059315:g.48700593C>A-
NM_000138.4(FBN1):c.*2578C>T2200FBN1Uncertain significancers761025257RCV000382541; RCV000297990; RCV000343053; RCV000285814; RCV000407975; RCV000284993; RCV000337703; RCV000404645; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487006094870060915:g.48700609G>A-
NM_000138.4(FBN1):c.*2556G>A2200FBN1Uncertain significancers886051221RCV000268818; RCV000327389; RCV000365643; RCV000394906; RCV000366847; RCV000274528; RCV000315490; RCV000355135; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487006314870063115:g.48700631C>T-
NM_000138.4(FBN1):c.*2533C>A2200FBN1Uncertain significancers886051222RCV000321073; RCV000378020; RCV000378584; RCV000287166; RCV000281096; RCV000326230; RCV000338536; RCV000390998; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487006544870065415:g.48700654G>T-
NM_000138.4(FBN1):c.*2524A>G2200FBN1Likely benignrs75372203RCV000404742; RCV000279786; RCV000351282; RCV000306549; RCV000364877; RCV000312531; RCV000405503; RCV000363823; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487006634870066315:g.48700663T>C-
NM_000138.4(FBN1):c.*2443G>T2200FBN1Uncertain significancers886051223RCV000357999; RCV000374991; RCV000266861; RCV000316924; RCV000278164; RCV000324240; RCV000265165; RCV000317933; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487007444870074415:g.48700744C>A-
NM_000138.4(FBN1):c.*2421C>A2200FBN1Uncertain significancers886051224RCV000405112; RCV000347819; RCV000296010; RCV000308041; RCV000387267; RCV000348533; RCV000387807; RCV000290650; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487007664870076615:g.48700766G>T-
NM_000138.4(FBN1):c.*2398G>T2200FBN1Likely benignrs377530465RCV000353786; RCV000359661; RCV000403235; RCV000301304; RCV000262543; RCV000261507; RCV000341826; RCV000302246; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487007894870078915:g.48700789C>A-
NM_000138.4(FBN1):c.*2395G>A2200FBN1Likely benignrs184719603RCV000378503; RCV000333103; RCV000274471; RCV000389830; RCV000327277; RCV000287516; RCV000344869; RCV000384154; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487007924870079215:g.48700792C>T-
NM_000138.4(FBN1):c.*2360C>G2200FBN1Likely benignrs144404153RCV000335111; RCV000283674; RCV000298838; RCV000405816; RCV000343335; RCV000368552; RCV000407845; RCV000299999; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487008274870082715:g.48700827G>C-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*2260C>A2200FBN1Uncertain significancers886051225RCV000384497; RCV000321922; RCV000369833; RCV000270252; RCV000271340; RCV000325283; RCV000273985; RCV000315102; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487009274870092715:g.48700927G>T-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*2221A>G2200FBN1Uncertain significancers886051226RCV000392467; RCV000293725; RCV000376601; RCV000337860; RCV000278075; RCV000323068; RCV000286835; RCV000372615; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487009664870096615:g.48700966T>C-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*2158G>A2200FBN1Benignrs11070641RCV000264532; RCV000309412; RCV000402950; RCV000348604; RCV000406604; RCV000313560; RCV000359463; RCV000362911; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487010294870102915:g.48701029C>T-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*2153A>G2200FBN1Likely benignrs116443051RCV000281280; RCV000375822; RCV000324390; RCV000386394; RCV000360481; RCV000316621; RCV000331676; RCV000261123; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487010344870103415:g.48701034T>C-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*2114T>A2200FBN1Uncertain significancers886051227RCV000392812; RCV000347116; RCV000351700; RCV000392779; RCV000358503; RCV000296668; RCV000287436; RCV000303730; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487010734870107315:g.48701073A>T-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*2091G>A2200FBN1Uncertain significancers575922741RCV000356041; RCV000354953; RCV000304791; RCV000259997; RCV000330197; RCV000275353; RCV000319804; RCV000403277; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487010964870109615:g.48701096C>T-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*2078G>T2200FBN1Uncertain significancers886051228RCV000340363; RCV000286733; RCV000376396; RCV000384546; RCV000276468; RCV000290185; RCV000389419; RCV000326782; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487011094870110915:g.48701109C>A-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*2040T>C2200FBN1Benignrs73390272RCV000312550; RCV000367193; RCV000341696; RCV000277265; RCV000393126; RCV000337771; RCV000297405; RCV000404349; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487011474870114715:g.48701147A>G-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*2024A>G2200FBN1Likely benignrs558488257RCV000329178; RCV000380116; RCV000313640; RCV000269034; RCV000265962; RCV000383738; RCV000363558; RCV000321072; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487011634870116315:g.48701163T>C-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*1989C>T2200FBN1Likely benignrs56194244RCV000372156; RCV000337600; RCV000285932; RCV000390926; RCV000282532; RCV000311866; RCV000352769; RCV000336213; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487011984870119815:g.48701198G>A-
NM_000138.4(FBN1):c.*1959G>A2200FBN1Benignrs12050562RCV000302654; RCV000324776; RCV000308516; RCV000363229; RCV000405917; RCV000390902; RCV000359699; RCV000267364; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487012284870122815:g.48701228C>T-
NM_000138.4(FBN1):c.*1950dup2200FBN1Likely benignrs535798341RCV000375638; RCV000388474; RCV000261391; RCV000331601; RCV000318886; RCV000292933; RCV000296522; RCV000353889; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487012364870123715:g.48701236_48701237insA-
NM_000138.4(FBN1):c.*1949T>C2200FBN1Likely benignrs534577080RCV000344396; RCV000347450; RCV000290556; RCV000391615; RCV000360170; RCV000303126; RCV000391617; RCV000403156; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487012384870123815:g.48701238A>G-
NM_000138.4(FBN1):c.*1943G>T2200FBN1Uncertain significancers886051229RCV000354569; RCV000389195; RCV000319637; RCV000367284; RCV000261567; RCV000297326; RCV000274949; RCV000332421; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487012444870124415:g.48701244C>A-
NM_000138.4(FBN1):c.*1733A>G2200FBN1Uncertain significancers886051230RCV000383364; RCV000286864; RCV000390076; RCV000287745; RCV000283469; RCV000340852; RCV000335120; RCV000326458; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487014544870145415:g.48701454T>C-
NM_000138.4(FBN1):c.*1720C>T2200FBN1Likely benignrs557301792RCV000407356; RCV000312963; RCV000299938; RCV000277872; RCV000338538; RCV000405412; RCV000370096; RCV000307266; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487014674870146715:g.48701467G>A-
NM_000138.4(FBN1):c.*1706C>A2200FBN1Uncertain significancers770825180RCV000278958; RCV000266293; RCV000328431; RCV000323590; RCV000377181; RCV000364319; RCV000380579; RCV000271046; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487014814870148115:g.48701481G>T-
NM_000138.4(FBN1):c.*1672G>A2200FBN1Uncertain significancers886051231RCV000348973; RCV000352308; RCV000374701; RCV000336324; RCV000313876; RCV000408130; RCV000282588; RCV000408128; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487015154870151515:g.48701515C>T-
NM_000138.4(FBN1):c.*1635C>A2200FBN1Uncertain significancers886051232RCV000316032; RCV000267851; RCV000272992; RCV000373026; RCV000308267; RCV000365120; RCV000303041; RCV000360089; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487015524870155215:g.48701552G>T-
NM_000138.4(FBN1):c.*1619T>A2200FBN1Likely benignrs374297351RCV000389250; RCV000319132; RCV000287964; RCV000293850; RCV000351126; RCV000345094; RCV000261642; RCV000385314; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487015684870156815:g.48701568A>T-
NM_000138.4(FBN1):c.*1580G>A2200FBN1Likely benignrs17352989RCV000392600; RCV000339349; RCV000304567; RCV000361579; RCV000390840; RCV000392595; RCV000291314; RCV000298828; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487016074870160715:g.48701607C>T-
NM_000138.4(FBN1):c.*1575T>G2200FBN1Benignrs4775760RCV000294620; RCV000276624; RCV000334072; RCV000263577; RCV000381682; RCV000330398; RCV000356014; RCV000368857; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487016124870161215:g.48701612A>C-
NM_000138.4(FBN1):c.*1562G>T2200FBN1Benignrs78442438RCV000330826; RCV000402119; RCV000407482; RCV000281625; RCV000385340; RCV000342334; RCV000287416; RCV000336559; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487016254870162515:g.48701625C>A-
NM_000138.4(FBN1):c.*1484C>T2200FBN1Likely benignrs533502309RCV000277465; RCV000368733; RCV000302470; RCV000407480; RCV000308119; RCV000362775; RCV000366545; RCV000332570; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487017034870170315:g.48701703G>A-
NM_000138.4(FBN1):c.*1477C>A2200FBN1Uncertain significancers886051233RCV000279541; RCV000285252; RCV000274084; RCV000340210; RCV000315953; RCV000374544; RCV000319929; RCV000379898; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487017104870171015:g.48701710G>T-
NM_000138.4(FBN1):c.*1437G>A2200FBN1Likely benignrs549498511RCV000312390; RCV000408060; RCV000345950; RCV000376135; RCV000290969; RCV000408054; RCV000306690; RCV000352276; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487017504870175015:g.48701750C>T-
NM_000138.4(FBN1):c.*1398G>C2200FBN1Uncertain significancers886051234RCV000377838; RCV000299626; RCV000367086; RCV000353597; RCV000263239; RCV000264723; RCV000268174; RCV000323148; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487017894870178915:g.48701789C>G-
NM_000138.4(FBN1):c.*1396C>T2200FBN1Uncertain significancers886051235RCV000383831; RCV000329130; RCV000289456; RCV000349569; RCV000344469; RCV000389721; RCV000294688; RCV000400645; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487017914870179115:g.48701791G>A-
NM_000138.4(FBN1):c.*1368A>G2200FBN1Benignrs77212138RCV000267390; RCV000336602; RCV000303866; RCV000361945; RCV000393665; RCV000358382; RCV000297917; RCV000300488; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487018194870181915:g.48701819T>C-
NM_000138.4(FBN1):c.*1325T>C2200FBN1Likely benignrs569152308RCV000382883; RCV000269334; RCV000330382; RCV000333859; RCV000293993; RCV000273266; RCV000388211; RCV000328336; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487018624870186215:g.48701862A>G-
NM_000138.4(FBN1):c.*1298C>G2200FBN1Likely benignrs143446014RCV000375598; RCV000281194; RCV000340264; RCV000407051; RCV000336286; RCV000309827; RCV000285339; RCV000390296; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487018894870188915:g.48701889G>C-
NM_000138.4(FBN1):c.*1252A>G2200FBN1Likely benignrs566419089RCV000263318; RCV000276179; RCV000407560; RCV000367297; RCV000331274; RCV000364551; RCV000370706; RCV000306316; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487019354870193515:g.48701935T>C-
NM_000138.4(FBN1):c.*1245C>T2200FBN1Likely benignrs181099623RCV000318453; RCV000278523; RCV000379062; RCV000324450; RCV000399830; RCV000373063; RCV000284615; RCV000339596; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487019424870194215:g.48701942G>A-
NM_000138.4(FBN1):c.*1228T>C2200FBN1Likely benignrs372333234RCV000290559; RCV000370471; RCV000313497; RCV000312276; RCV000355296; RCV000345563; RCV000407922; RCV000402058; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487019594870195915:g.48701959A>G-
NM_000138.4(FBN1):c.*1084T>C2200FBN1Benignrs3803350RCV000315715; RCV000271895; RCV000268512; RCV000378328; RCV000262768; RCV000321291; RCV000329569; RCV000354136; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487021034870210315:g.48702103A>G-
NM_000138.4(FBN1):c.*1007G>T2200FBN1Uncertain significancers886051236RCV000289651; RCV000389452; RCV000350110; RCV000381794; RCV000292748; RCV000301100; RCV000401085; RCV000351644; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487021804870218015:g.48702180C>A-
NM_000138.4(FBN1):c.*987C>T2200FBN1Uncertain significancers886051237RCV000302863; RCV000304801; RCV000272236; RCV000361212; RCV000264209; RCV000335045; RCV000392189; RCV000364603; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487022004870220015:g.48702200G>A-
NM_000138.4(FBN1):c.*967C>T2200FBN1Likely benignrs56024388RCV000381977; RCV000275807; RCV000385769; RCV000324910; RCV000293685; RCV000336915; RCV000333566; RCV000375442; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487022204870222015:g.48702220G>A-
NM_000138.4(FBN1):c.*960del2200FBN1Likely benignrs527621676RCV000407556; RCV000302161; RCV000340675; RCV000399490; RCV000335884; RCV000278590; RCV000310443; RCV000362845; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487022274870222715:g.48702227_48702227del-
NM_000138.4(FBN1):c.*948G>T2200FBN1Uncertain significancers749224599RCV000313568; RCV000262978; RCV000270222; RCV000331038; RCV000273589; RCV000370556; RCV000355355; RCV000315639; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487022394870223915:g.48702239C>A-
NM_000138.4(FBN1):c.*938G>T2200FBN1Uncertain significancers886051238RCV000377073; RCV000284890; RCV000346828; RCV000372595; RCV000288541; RCV000323897; RCV000285193; RCV000401712; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487022494870224915:g.48702249C>A-
NM_000138.4(FBN1):c.*867G>T2200FBN1Likely benignrs189749406RCV000260214; RCV000315498; RCV000357081; RCV000408367; RCV000367382; RCV000398682; RCV000299863; RCV000345881; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487023204870232015:g.48702320C>A-
NM_000138.4(FBN1):c.*764G>A2200FBN1Likely benignrs55717426RCV000383236; RCV000381899; RCV000291233; RCV000360710; RCV000321623; RCV000317726; RCV000325148; RCV000268385; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487024234870242315:g.48702423C>T-
NM_000138.4(FBN1):c.*730G>T2200FBN1Benignrs13598RCV000297172; RCV000294541; RCV000336986; RCV000351824; RCV000293740; RCV000401006; RCV000394077; RCV000354587; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487024574870245715:g.48702457C>A-
NM_000138.4(FBN1):c.*724A>C2200FBN1Uncertain significancers886051239RCV000272634; RCV000327670; RCV000265727; RCV000305626; RCV000366243; RCV000390863; RCV000309194; RCV000358030; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487024634870246315:g.48702463T>G-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*406G>T2200FBN1Uncertain significancers886051240RCV000333425; RCV000375108; RCV000279386; RCV000386834; RCV000387856; RCV000280409; RCV000273656; RCV000334551; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487027814870278115:g.48702781C>A-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*314C>T2200FBN1Benignrs1042078RCV000399351; RCV000340144; RCV000305212; RCV000345741; RCV000365337; RCV000275580; RCV000401289; RCV000310625; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487028734870287315:g.48702873G>A-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*286C>T2200FBN1Uncertain significancers886051241RCV000371394; RCV000263811; RCV000317350; RCV000372034; RCV000378215; RCV000276814; RCV000318960; RCV000311929; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487029014870290115:g.48702901G>A-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*268G>C2200FBN1Uncertain significancers886051242RCV000343321; RCV000349417; RCV000308807; RCV000379279; RCV000401663; RCV000343747; RCV000283727; RCV000288804; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487029194870291915:g.48702919C>G-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*254C>T2200FBN1Uncertain significancers886051243RCV000297265; RCV000356663; RCV000314590; RCV000369257; RCV000261934; RCV000399726; RCV000408435; RCV000321908; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487029334870293315:g.48702933G>A-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*202_*203del2200FBN1Uncertain significancers766125141RCV000291478; RCV000292525; RCV000386912; RCV000327757; RCV000268026; RCV000357944; RCV000323111; RCV000381263; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487029844870298515:g.48702984_48702985del-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*57A>G2200FBN1Likely benignrs363849RCV000334470; RCV000398379; RCV000390095; RCV000279606; RCV000352121; RCV000394300; RCV000299407; RCV000358957; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487031304870313015:g.48703130T>C-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.8363C>T (p.Thr2788Met)2200FBN1Conflicting interpretations of pathogenicityrs143007898RCV000338888; RCV000617159; RCV000399054; RCV000339896; RCV000333030; RCV000279195; RCV000373725; RCV000248624; RCV000284981; RCV000589560; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:CN230736; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA997115487034404870344015:g.48703440G>A-
NM_000138.4(FBN1):c.8310C>T (p.His2770=)2200FBN1Likely benignrs112189340RCV000345706; RCV000399142; RCV000304890; RCV000273365; RCV000308744; RCV000368154; RCV000399944; RCV000314675; RCV000534883; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487034934870349315:g.48703493G>A-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.8232G>C (p.Gln2744His)2200FBN1Uncertain significancers376119827RCV000765217; RCV000765217; RCV000765217; RCV000765217; RCV000765217; RCV000546431; RCV000765217; RCV000765217; RCV000546431; RCV000765217; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:C3541518,OMIM:129600; MedGen:C3280054,OMIM:614185; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C4310796,OMIM:616914, Orphanet:ORPHA300382; MedGen:C0024796,OMIM:154700,Orphan15487035714870357115:g.48703571C>G-C0024796 154700 Marfan syndrome;
NM_000138.4(FBN1):c.8227-3C>T2200FBN1Likely benignrs200822151RCV000382367; RCV000311376; RCV000400407; RCV000346461; RCV000289209; RCV000395298; RCV000349902; RCV000341750; RCV000440215; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487035794870357915:g.48703579G>A-
NM_000138.4(FBN1):c.8202C>T (p.Asn2734=)2200FBN1Conflicting interpretations of pathogenicityrs113904256RCV000353296; RCV000321428; RCV000314721; RCV000260790; RCV000299351; RCV000263983; RCV000378614; RCV000356562; RCV000868868; RCV000423214; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487047904870479015:g.48704790G>A-
NM_000138.4(FBN1):c.8185A>C (p.Lys2729Gln)2200FBN1Likely benignrs370096856RCV000291882; RCV000382017; RCV000352752; RCV000330476; RCV000295523; RCV000267742; RCV000325046; RCV000387427; RCV000458019; RCV000181412; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487048074870480715:g.48704807T>G-
NM_000138.4(FBN1):c.8149G>A (p.Glu2717Lys)2200FBN1Conflicting interpretations of pathogenicityrs187553035RCV000270822; RCV000362980; RCV000295866; RCV000328269; RCV000229179; RCV000387643; RCV000273444; RCV000229179; RCV000365739; RCV000330801; RCV000506463; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487048434870484315:g.48704843C>T-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.8027C>T (p.Pro2676Leu)2200FBN1Uncertain significancers146469379RCV000765218; RCV000765218; RCV000765218; RCV000765218; RCV000765218; RCV000697974; RCV000765218; RCV000765218; RCV000697974; RCV000765218; RCV000483455; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:C3541518,OMIM:129600; MedGen:C3280054,OMIM:614185; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C4310796,OMIM:616914, Orphanet:ORPHA300382; MedGen:C0024796,OMIM:154700,Orphan15487077574870775715:g.48707757G>A-C0024796 154700 Marfan syndrome;
NM_000138.4(FBN1):c.8011C>T (p.Leu2671=)2200FBN1Uncertain significancers886051244RCV000400012; RCV000333625; RCV000368473; RCV000306891; RCV000276241; RCV000363876; RCV000353238; RCV000311417; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487077734870777315:g.48707773G>A-
NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys)2200FBN1Pathogenic/Likely pathogenicrs111984349RCV000763353; RCV000253245; RCV000763353; RCV000763353; RCV000763353; RCV000763353; RCV000540250; RCV000659583; RCV000763353; RCV000763353; RCV000540250; RCV000763353; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:CN230736; MedGen:C3541518,OMIM:129600; MedGen:C3280054,OMIM:614185; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C4310796,OMIM:616914, Orphanet:ORPHA300382; MedGen:C0024796,OM15487079564870795615:g.48707956C>T-
NM_000138.4(FBN1):c.7661G>A (p.Arg2554Gln)2200FBN1Conflicting interpretations of pathogenicityrs199522781RCV000382117; RCV000313030; RCV000297567; RCV000351514; RCV000347326; RCV000400646; RCV000290065; RCV000396029; RCV000766961; RCV000454621; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487137934871379315:g.48713793C>T-
NM_000138.4(FBN1):c.7098C>T (p.Asp2366=)2200FBN1Benign/Likely benignrs1005074RCV000383922; RCV000617104; RCV000295681; RCV000292041; RCV000387684; RCV000394600; RCV000334322; RCV000253159; RCV000326972; RCV000755262; RCV000181409; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:CN230736; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA997115487198704871987015:g.48719870G>A-
NM_000138.4(FBN1):c.7056C>T (p.Ser2352=)2200FBN1Conflicting interpretations of pathogenicityrs149697299RCV000303029; RCV000617115; RCV000360147; RCV000390288; RCV000299356; RCV000360515; RCV000305833; RCV000245150; RCV000269442; RCV000487841; RCV000419193; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:CN230736; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA997115487199124871991215:g.48719912G>A-
NM_000138.4(FBN1):c.6987C>G (p.Asp2329Glu)2200FBN1Benign/Likely benignrs363831RCV000296204; RCV000621017; RCV000265846; RCV000262062; RCV000332220; RCV000320863; RCV000317229; RCV000371988; RCV000356993; RCV000540583; RCV000614476; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:CN230736; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA997115487205534872055315:g.48720553G>C-
NM_000138.4(FBN1):c.6957T>C (p.Asn2319=)2200FBN1Uncertain significancers1290478839RCV000768211; RCV000768211; RCV000768211; RCV000768211; RCV000768211; RCV000768211; RCV000768211; RCV000768211; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:C3541518,OMIM:129600; MedGen:C3280054,OMIM:614185; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C4310796,OMIM:616914, Orphanet:ORPHA300382; MedGen:C0024796,OMIM:154700,Orphan15487205834872058315:g.48720583A>G-
NM_000138.4(FBN1):c.6801C>T (p.Asn2267=)2200FBN1Conflicting interpretations of pathogenicityrs886051245RCV000298102; RCV000338852; RCV000353034; RCV000313336; RCV000396161; RCV000398246; RCV000283843; RCV000368091; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487229384872293815:g.48722938G>A-
NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg)2200FBN1Pathogenic/Likely pathogenicrs113543334RCV000768212; RCV000768212; RCV000768212; RCV000768212; RCV000768212; RCV000768212; RCV000806890; RCV000768212; RCV000806890; RCV000768212; RCV000507361; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:C3541518,OMIM:129600; MedGen:C3280054,OMIM:614185; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C4310796,OMIM:616914, Orphanet:ORPHA300382; MedGen:C0024796,OMIM:154700,Orphan15487251414872514115:g.48725141A>G-CN169374 not specified;
NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys)2200FBN1Pathogenic/Likely pathogenicrs794728334RCV000768213; RCV000618917; RCV000768213; RCV000768213; RCV000768213; RCV000768213; RCV000659564; RCV000768213; RCV000824568; RCV000768213; RCV000824568; RCV000768213; RCV000181698; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:CN230736; MedGen:C3541518,OMIM:129600; MedGen:C3280054,OMIM:614185; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C4310796,OMIM:616914, Orphanet:ORPHA300382; MedGen:C0024796,OM15487292664872926615:g.48729266C>T-
NM_000138.4(FBN1):c.6357G>C (p.Val2119=)2200FBN1Uncertain significancers886051246RCV000295239; RCV000346577; RCV000291557; RCV000389592; RCV000350179; RCV000398038; RCV000385928; RCV000307285; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487295414872954115:g.48729541C>G-
NM_000138.4(FBN1):c.6314-15G>A2200FBN1Conflicting interpretations of pathogenicityrs200841830RCV000343480; RCV000400917; RCV000398027; RCV000358633; RCV000303614; RCV000355096; RCV000276903; RCV000300200; RCV000216732; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487295994872959915:g.48729599C>T-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.6264G>C (p.Lys2088Asn)2200FBN1Uncertain significancers886051247RCV000288350; RCV000328557; RCV000368035; RCV000379177; RCV000273490; RCV000326935; RCV000331938; RCV000383167; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487300144873001415:g.48730014C>G-
NM_000138.5(FBN1):c.6244G>C (p.Glu2082Gln)2200FBN1Uncertain significance-1RCV001027820; RCV001027820; RCV001027820; RCV001027820; RCV001027820; RCV001027820; RCV001027820; RCV001027820; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:C3541518,OMIM:129600; MedGen:C3280054,OMIM:614185; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C4310796,OMIM:616914, Orphanet:ORPHA300382; MedGen:C0024796,OMIM:154700,Orphan154873003448730034NC_000015.9:g.48730034C>G-
NM_000138.4(FBN1):c.6183T>A (p.Cys2061Ter)2200FBN1Likely pathogenicrs71467648RCV000768210; RCV000768210; RCV000768210; RCV000768210; RCV000768210; RCV000768210; RCV000768210; RCV000768210; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:C3541518,OMIM:129600; MedGen:C3280054,OMIM:614185; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C4310796,OMIM:616914, Orphanet:ORPHA300382; MedGen:C0024796,OMIM:154700,Orphan15487300954873009515:g.48730095A>T-
NM_000138.4(FBN1):c.6145A>G (p.Ser2049Gly)2200FBN1Uncertain significance-1RCV000984067; NMedGen:C1858556,OMIM:604308, Orphanet:ORPHA9971515487339364873393615:g.48733936T>C-
NM_000138.4(FBN1):c.6095C>G (p.Thr2032Ser)2200FBN1Uncertain significancers756506237RCV000339654; RCV000338375; RCV000403963; RCV000369572; RCV000287105; RCV000470548; RCV000281039; RCV000396194; RCV000470548; RCV000298728; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487339864873398615:g.48733986G>C-
NM_000138.4(FBN1):c.5917+3A>G2200FBN1Conflicting interpretations of pathogenicityrs202158568RCV000362544; RCV000311237; RCV000271534; RCV000328941; RCV000270358; RCV000688484; RCV000322623; RCV000389993; RCV000688484; RCV000368202; RCV000181407; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487375704873757015:g.48737570T>C-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.5788+4C>A2200FBN1Uncertain significancers577301285RCV000396460; RCV000268444; RCV000347712; RCV000349101; RCV000309387; RCV000360488; RCV000396467; RCV000308093; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487388994873889915:g.48738899G>T-
NM_000138.4(FBN1):c.5724A>G (p.Thr1908=)2200FBN1Conflicting interpretations of pathogenicityrs141219664RCV000302528; RCV000619150; RCV000333041; RCV000262510; RCV000261542; RCV000388834; RCV000372546; RCV000359544; RCV000320176; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:CN230736; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA997115487389674873896715:g.48738967T>C-
NM_000138.4(FBN1):c.5672-15C>G2200FBN1Conflicting interpretations of pathogenicityrs776163620RCV000304842; RCV000344528; RCV000405016; RCV000291988; RCV000343242; RCV000292177; RCV000349467; RCV000383089; RCV000840665; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487390344873903415:g.48739034G>C-
NM_000138.4(FBN1):c.5546-1G>A2200FBN1Likely pathogenicrs1566899590RCV000768214; RCV000768214; RCV000768214; RCV000768214; RCV000768214; RCV000768214; RCV000768214; RCV000768214; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:C3541518,OMIM:129600; MedGen:C3280054,OMIM:614185; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C4310796,OMIM:616914, Orphanet:ORPHA300382; MedGen:C0024796,OMIM:154700,Orphan15487410914874109115:g.48741091C>T-
NM_000138.4(FBN1):c.5405A>G (p.Lys1802Arg)2200FBN1Uncertain significancers886051248RCV000380067; RCV000289038; RCV000381198; RCV000386800; RCV000328740; RCV000341799; RCV000271316; RCV000282726; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487488514874885115:g.48748851T>C-
NM_000138.4(FBN1):c.4998C>G (p.Thr1666=)2200FBN1Conflicting interpretations of pathogenicityrs141925790RCV000768215; RCV000621602; RCV000768215; RCV000768215; RCV000768215; RCV000768215; RCV000768215; RCV000768215; RCV000768215; RCV000761912; RCV000417854; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:CN230736; MedGen:C3541518,OMIM:129600; MedGen:C3280054,OMIM:614185; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C4310796,OMIM:616914, Orphanet:ORPHA300382; MedGen:C0024796,OM15487561634875616315:g.48756163G>C-CN230736 Cardiovascular phenotype;
NM_000138.4(FBN1):c.4890_4891delinsTG (p.Gln1630_Cys1631delinsHisGly)2200FBN1Likely pathogenicrs1566903931RCV000755759; NMedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715154875781648757817NC_000015.9:g.48757816_48757817delinsCA-
NM_000138.4(FBN1):c.4727T>C (p.Met1576Thr)2200FBN1Uncertain significancers776625874RCV000765220; RCV000620793; RCV000765220; RCV000765220; RCV000765220; RCV000765220; RCV000226053; RCV000765220; RCV000765220; RCV000226053; RCV000778032; RCV000765220; RCV000586729; RCV000181531; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:CN230736; MedGen:C3541518,OMIM:129600; MedGen:C3280054,OMIM:614185; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C4310796,OMIM:616914, Orphanet:ORPHA300382; MedGen:C0024796,OM15487601554876015515:g.48760155A>G-
NM_000138.4(FBN1):c.4462G>T (p.Val1488Leu)2200FBN1Uncertain significancers1566904712RCV000768216; RCV000768216; RCV000768216; RCV000768216; RCV000768216; RCV000768216; RCV000768216; RCV000768216; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:C3541518,OMIM:129600; MedGen:C3280054,OMIM:614185; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C4310796,OMIM:616914, Orphanet:ORPHA300382; MedGen:C0024796,OMIM:154700,Orphan15487607294876072915:g.48760729C>A-
NM_000138.4(FBN1):c.4358C>T (p.Pro1453Leu)2200FBN1Uncertain significancers368650399RCV000765221; RCV000765221; RCV000765221; RCV000765221; RCV000765221; RCV000691949; RCV000765221; RCV000765221; RCV000691949; RCV000765221; RCV000592888; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:C3541518,OMIM:129600; MedGen:C3280054,OMIM:614185; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C4310796,OMIM:616914, Orphanet:ORPHA300382; MedGen:C0024796,OMIM:154700,Orphan15487629324876293215:g.48762932G>A-C0024796 154700 Marfan syndrome;
NM_000138.4(FBN1):c.4336+11G>A2200FBN1Uncertain significancers886051249RCV000345141; RCV000330371; RCV000389532; RCV000374311; RCV000294100; RCV000260026; RCV000319944; RCV000294845; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487647374876473715:g.48764737C>T-
NM_000138.4(FBN1):c.4049G>T (p.Cys1350Phe)2200FBN1Likely pathogenicrs1555397718RCV000767967; RCV000767967; RCV000767967; RCV000767967; RCV000767967; RCV000663688; RCV000767967; RCV000767967; RCV000767967; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:C3541518,OMIM:129600; MedGen:C3280054,OMIM:614185; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C4310796,OMIM:616914, Orphanet:ORPHA300382; MedGen:C0024796,OMIM:154700,Orphan15487667634876676315:g.48766763C>A-
NM_000138.4(FBN1):c.3936C>T (p.Ser1312=)2200FBN1Likely benignrs779913610RCV000380304; RCV000617095; RCV000402570; RCV000285893; RCV000383821; RCV000284767; RCV000329222; RCV000246111; RCV000336392; RCV000590159; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:CN230736; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA997115487738804877388015:g.48773880G>A-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.3896C>T (p.Thr1299Met)2200FBN1Likely benignrs774851476RCV000308560; RCV000337564; RCV000275695; RCV000371345; RCV000301369; RCV000363188; RCV000395815; RCV000311979; RCV000632054; RCV000607492; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487739204877392015:g.48773920G>A-
NM_000138.4(FBN1):c.3890A>G (p.Glu1297Gly)2200FBN1Conflicting interpretations of pathogenicityrs200342067RCV000273225; RCV000620106; RCV000379285; RCV000264838; RCV000316383; RCV000279942; RCV000378194; RCV000324811; RCV000328328; RCV000588770; RCV000181499; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:CN230736; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA997115487739264877392615:g.48773926T>C-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.3740A>T (p.Asn1247Ile)2200FBN1Likely benignrs568625812RCV000404390; RCV000296357; RCV000350260; RCV000280972; RCV000375658; RCV000351320; RCV000310061; RCV000403503; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487761134877611315:g.48776113T>A-
NM_000138.4(FBN1):c.3712G>A (p.Asp1238Asn)2200FBN1Conflicting interpretations of pathogenicityrs794728208RCV000763355; RCV000763355; RCV000763355; RCV000763355; RCV000763355; RCV000659532; RCV000763355; RCV000808826; RCV000763355; RCV000808826; RCV000763355; RCV000181493; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:C3541518,OMIM:129600; MedGen:C3280054,OMIM:614185; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C4310796,OMIM:616914, Orphanet:ORPHA300382; MedGen:C0024796,OMIM:154700,Orphan15487775714877757115:g.48777571C>T-C0024796 154700 Marfan syndrome;
NM_000138.4(FBN1):c.3570C>T (p.Pro1190=)2200FBN1Likely benignrs188317014RCV000292452; RCV000288996; RCV000405976; RCV000388029; RCV000318384; RCV000386927; RCV000344315; RCV000333379; RCV000459741; RCV000610769; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487792914877929115:g.48779291G>A-
NM_000138.4(FBN1):c.3462C>T (p.Ile1154=)2200FBN1Uncertain significancers144339604RCV000767969; RCV000767969; RCV000767969; RCV000767969; RCV000767969; RCV000767969; RCV000806888; RCV000767969; RCV000806888; RCV000767969; RCV000589547; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:C3541518,OMIM:129600; MedGen:C3280054,OMIM:614185; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C4310796,OMIM:616914, Orphanet:ORPHA300382; MedGen:C0024796,OMIM:154700,Orphan15487795104877951015:g.48779510G>A-CN517202 not provided;
NM_000138.4(FBN1):c.3413G>C (p.Cys1138Ser)2200FBN1Likely pathogenicrs397515791RCV001027821; RCV001027821; RCV001027821; RCV001027821; RCV000588454; RCV001027821; RCV001027821; RCV001027821; RCV001027821; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:C3541518,OMIM:129600; MedGen:C3280054,OMIM:614185; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:CN229799; MedGen:C4310796,OMIM:616914, Orphanet:ORPHA300382; MedGen:C0024796,OM15487795594877955915:g.48779559C>G-
NM_000138.4(FBN1):c.3337+11G>A2200FBN1Conflicting interpretations of pathogenicityrs368726848RCV000358194; RCV000314739; RCV000404829; RCV000310431; RCV000343941; RCV000349919; RCV000395417; RCV000405694; RCV000439260; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487802994878029915:g.48780299C>T-
NM_000138.4(FBN1):c.3171C>T (p.Ser1057=)2200FBN1Likely benignrs144400069RCV000317643; RCV000263644; RCV000330505; RCV000259959; RCV000294634; RCV000387388; RCV000355963; RCV000361759; RCV000869020; RCV000429360; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487806024878060215:g.48780602G>A-
NM_000138.4(FBN1):c.3089A>G (p.Asn1030Ser)2200FBN1Conflicting interpretations of pathogenicityrs375996640RCV000333243; RCV000617142; RCV000288603; RCV000380751; RCV000392157; RCV000341215; RCV000283744; RCV000253902; RCV000403646; RCV000868279; RCV000609438; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:CN230736; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA997115487806844878068415:g.48780684T>C-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.3069G>A (p.Lys1023=)2200FBN1Benign/Likely benignrs199789628RCV000277668; RCV000620058; RCV000320533; RCV000290661; RCV000285275; RCV000377538; RCV000342553; RCV000382699; RCV000325630; RCV000538948; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:CN230736; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA997115487820614878206115:g.48782061C>T-
NM_000138.4(FBN1):c.2979C>T (p.Cys993=)2200FBN1Likely benignrs150126098RCV000349848; RCV000406376; RCV000279330; RCV000311381; RCV000392604; RCV000336599; RCV000402736; RCV000315004; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487821514878215115:g.48782151G>A-
NM_000138.4(FBN1):c.2934C>G (p.Asp978Glu)2200FBN1Conflicting interpretations of pathogenicityrs138438849RCV000767970; RCV000248615; RCV000767970; RCV000767970; RCV000767970; RCV000767970; RCV000659521; RCV000767970; RCV000767970; RCV000767970; RCV000757268; RCV000181399; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:CN230736; MedGen:C3541518,OMIM:129600; MedGen:C3280054,OMIM:614185; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C4310796,OMIM:616914, Orphanet:ORPHA300382; MedGen:C0024796,OM15487821964878219615:g.48782196G>C-
NM_000138.4(FBN1):c.2903C>T (p.Thr968Ile)2200FBN1Uncertain significancers781698952RCV000316367; RCV000404614; RCV000373307; RCV000338602; RCV000386147; RCV000289996; RCV000281169; RCV000344944; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915487822274878222715:g.48782227G>A-
NM_000138.4(FBN1):c.2678-12T>C2200FBN1Benign/Likely benignrs200368037RCV000294072; RCV000335673; RCV000280637; RCV000388384; RCV000392210; RCV000776179; RCV000349049; RCV000181398; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C0024796,OMIM:154700, Orphanet:ORPHA284963, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:C1861456,OM15487864634878646315:g.48786463A>G-
NM_000138.4(FBN1):c.2645C>T (p.Ala882Val)2200FBN1Pathogenic/Likely pathogenicrs794728195RCV000763356; RCV000617207; RCV000763356; RCV000763356; RCV000763356; RCV000780242; RCV000763356; RCV000663562; RCV000763356; RCV000807820; RCV000763356; RCV000616479; RCV000807820; RCV000763356; RCV000181465; RCV001001395; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:CN230736; MedGen:C3541518,OMIM:129600; MedGen:C3280054,OMIM:614185; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:CN229799; MedGen:C4310796,OMIM:616914, Orphanet:ORPHA300382; Me15487873524878735215:g.48787352G>A-CN230736 Cardiovascular phenotype;
NM_000138.4(FBN1):c.2600A>G (p.Asn867Ser)2200FBN1Uncertain significancers145464311RCV000763968; RCV000617483; RCV000763968; RCV000763968; RCV000763968; RCV000763968; RCV000763968; RCV000763968; RCV000763968; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:CN230736; MedGen:C3541518,OMIM:129600; MedGen:C3280054,OMIM:614185; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C4310796,OMIM:616914, Orphanet:ORPHA300382; MedGen:C0024796,OM15487873974878739715:g.48787397T>C-
NM_000138.4(FBN1):c.2581C>T (p.Arg861Ter)2200FBN1Pathogenicrs140583RCV000767971; RCV000620881; RCV000767971; RCV000767971; RCV000767971; RCV000590228; RCV000767971; RCV000663557; RCV000767971; RCV000810561; RCV000767971; RCV000614836; RCV000810561; RCV000767971; RCV000254863; RCV000507994; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:CN230736; MedGen:C3541518,OMIM:129600; MedGen:C3280054,OMIM:614185; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:CN229799; MedGen:C4310796,OMIM:616914, Orphanet:ORPHA300382; Me15487874164878741615:g.48787416G>A-CN230736 Cardiovascular phenotype;
NM_000138.4(FBN1):c.2506del (p.Ser836fs)2200FBN1Pathogenicrs1566911709RCV000678259; RCV000678258; NMedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C0024796,OMIM:154700, Orphanet:ORPHA284963, Orphanet:ORPHA558,SNOMED CT:1934600615487876994878769915:g.48787699_48787699del-
NM_000138.4(FBN1):c.2305_2315del (p.Cys769fs)2200FBN1Pathogenicrs1566911957RCV000767972; RCV000767972; RCV000767972; RCV000767972; RCV000767972; RCV000767972; RCV000767972; RCV000767972; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:C3541518,OMIM:129600; MedGen:C3280054,OMIM:614185; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C4310796,OMIM:616914, Orphanet:ORPHA300382; MedGen:C0024796,OMIM:154700,Orphan15487884014878841115:g.48788401_48788411del-
NM_000138.4(FBN1):c.2287T>G (p.Cys763Gly)2200FBN1Uncertain significancers1555399361RCV000767973; RCV000767973; RCV000767973; RCV000767973; RCV000767973; RCV000663525; RCV000767973; RCV000767973; RCV000767973; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:C3541518,OMIM:129600; MedGen:C3280054,OMIM:614185; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C4310796,OMIM:616914, Orphanet:ORPHA300382; MedGen:C0024796,OMIM:154700,Orphan15487894694878946915:g.48789469A>C-
NM_000138.4(FBN1):c.2206A>G (p.Asn736Asp)2200FBN1Uncertain significancers878853678RCV000763969; RCV000763969; RCV000763969; RCV000763969; RCV000763969; RCV000226819; RCV000763969; RCV000763969; RCV000226819; RCV000763969; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:C3541518,OMIM:129600; MedGen:C3280054,OMIM:614185; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C4310796,OMIM:616914, Orphanet:ORPHA300382; MedGen:C0024796,OMIM:154700,Orphan15487895504878955015:g.48789550T>C-C0024796 154700 Marfan syndrome;
NM_000138.4(FBN1):c.1837+9T>C2200FBN1Benign/Likely benignrs56102085RCV000329612; RCV000369312; RCV000356505; RCV000274563; RCV000314567; RCV000317788; RCV000372486; RCV000261680; RCV000873938; RCV000439166; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915488007704880077015:g.48800770A>G-
NM_000138.4(FBN1):c.1602T>C (p.Cys534=)2200FBN1Conflicting interpretations of pathogenicityrs377386372RCV000405863; RCV000301280; RCV000313942; RCV000392073; RCV000356074; RCV000350131; RCV000305364; RCV000259442; RCV000632069; RCV000600794; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915488023534880235315:g.48802353A>G-
NM_000138.4(FBN1):c.1468+4C>A2200FBN1Uncertain significancers765579667RCV000320302; RCV000359983; RCV000265370; RCV000384163; RCV000296034; RCV000381131; RCV000271083; RCV000326194; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915488075804880758015:g.48807580G>T-
NM_000138.4(FBN1):c.1462T>C (p.Cys488Arg)2200FBN1Pathogenic/Likely pathogenicrs1555400373RCV000763359; RCV000763359; RCV000763359; RCV000763359; RCV000763359; RCV000547735; RCV000663458; RCV000763359; RCV000763359; RCV000547735; RCV000763359; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:C3541518,OMIM:129600; MedGen:C3280054,OMIM:614185; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C4310796,OMIM:616914, Orphanet:ORPHA300382; MedGen:C0024796,OMIM:154700,Orphan15488075904880759015:g.48807590A>G-C0024796 154700 Marfan syndrome;
NM_000138.4(FBN1):c.1371C>G (p.Arg457=)2200FBN1Benign/Likely benignrs25436RCV000334927; RCV000621106; RCV000403864; RCV000392395; RCV000298546; RCV000292647; RCV000350913; RCV000386737; RCV000338323; RCV000755535; RCV000440739; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:CN230736; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA997115488076814880768115:g.48807681G>C-
NM_000138.4(FBN1):c.1193G>A (p.Arg398Lys)2200FBN1Uncertain significancers886051250RCV000359336; RCV000268990; RCV000304563; RCV000326301; RCV000387896; RCV000308931; RCV000265556; RCV000365915; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915488085144880851415:g.48808514C>T-
NM_000138.4(FBN1):c.902G>T (p.Gly301Val)2200FBN1Conflicting interpretations of pathogenicityrs142888621RCV000289798; RCV000617116; RCV000377435; RCV000347117; RCV000320502; RCV000407491; RCV000461203; RCV000288772; RCV000247580; RCV000461203; RCV000407488; RCV000995347; RCV000181419; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:CN230736; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA997115488184134881841315:g.48818413C>A-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.885T>G (p.Ile295Met)2200FBN1Likely benignrs151056963RCV000324354; RCV000300817; RCV000353445; RCV000368254; RCV000260937; RCV000406479; RCV000311219; RCV000358152; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915488184304881843015:g.48818430A>C-
NM_000138.4(FBN1):c.793A>T (p.Thr265Ser)2200FBN1Uncertain significancers982468949RCV000763970; RCV000763970; RCV000763970; RCV000763970; RCV000763970; RCV000631954; RCV000763970; RCV000763970; RCV000631954; RCV000763970; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:C3541518,OMIM:129600; MedGen:C3280054,OMIM:614185; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C4310796,OMIM:616914, Orphanet:ORPHA300382; MedGen:C0024796,OMIM:154700,Orphan15488263464882634615:g.48826346T>A-
NM_000138.4(FBN1):c.783T>C (p.Asn261=)2200FBN1Benign/Likely benignrs113721547RCV000348393; RCV000617117; RCV000295843; RCV000387961; RCV000327721; RCV000265635; RCV000326369; RCV000246115; RCV000384555; RCV000757276; RCV000252306; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:CN230736; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA997115488263564882635615:g.48826356A>G-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.723G>A (p.Thr241=)2200FBN1Uncertain significancers757264206RCV000280636; RCV000391098; RCV000337778; RCV000341395; RCV000302539; RCV000298208; RCV000405430; RCV000386712; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915488298214882982115:g.48829821C>T-
NM_000138.4(FBN1):c.589G>C (p.Gly197Arg)2200FBN1Uncertain significancers886051251RCV000363127; RCV000333102; RCV000359521; RCV000389381; RCV000274460; RCV000310792; RCV000271957; RCV000270956; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915488299554882995515:g.48829955C>G-
NM_000138.4(FBN1):c.538+4A>G2200FBN1Benign/Likely benignrs375721252RCV000339135; RCV000286081; RCV000393946; RCV000374739; RCV000331838; RCV000282551; RCV000335275; RCV000373450; RCV000467366; RCV000421497; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915488884764888847615:g.48888476T>C-
NM_000138.4(FBN1):c.396T>C (p.Asp132=)2200FBN1Benign/Likely benignrs147481356RCV000323098; RCV000323069; RCV000319459; RCV000261983; RCV000260867; RCV000353385; RCV000286834; RCV000380093; RCV000869071; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915488923824889238215:g.48892382A>G-
NM_000138.5(FBN1):c.315_318dup (p.Ile107fs)2200FBN1Likely pathogenic-1RCV001027822; RCV001027822; RCV001027822; RCV001027822; RCV001027822; RCV001027822; RCV001027822; RCV001027822; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:C3541518,OMIM:129600; MedGen:C3280054,OMIM:614185; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C4310796,OMIM:616914, Orphanet:ORPHA300382; MedGen:C0024796,OMIM:154700,Orphan154890295248902953NC_000015.9:g.48902954_48902957dup-
NM_000138.4(FBN1):c.223C>T (p.Pro75Ser)2200FBN1Uncertain significancers886051252RCV000360782; RCV000320428; RCV000354296; RCV000270740; RCV000355433; RCV000300622; RCV000265294; RCV000402469; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915489052314890523115:g.48905231G>A-
NM_000138.4(FBN1):c.-70C>A2200FBN1Uncertain significancers886051253RCV000371839; RCV000342993; RCV000391571; RCV000306798; RCV000281995; RCV000377690; RCV000337060; RCV000283355; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915489370364893703615:g.48937036G>T-
NM_000138.4(FBN1):c.-98G>T2200FBN1Uncertain significancers886051254RCV000313642; RCV000259288; RCV000277254; RCV000354203; RCV000347512; RCV000391567; RCV000312422; RCV000367048; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915489370644893706415:g.48937064C>A-
NM_000138.4(FBN1):c.-132A>C2200FBN1Uncertain significancers886051255RCV000285341; RCV000373762; RCV000345673; RCV000379688; RCV000320528; RCV000319117; RCV000381566; RCV000265371; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915489370984893709815:g.48937098T>G-
NM_000138.4(FBN1):c.-136G>C2200FBN1Uncertain significancers879283668RCV000406680; RCV000299142; RCV000354041; RCV000346893; RCV000401647; RCV000311576; RCV000291944; RCV000352343; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915489371024893710215:g.48937102C>G-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.-319G>T2200FBN1Uncertain significancers886051256RCV000293368; RCV000383046; RCV000335656; RCV000294750; RCV000281909; RCV000329839; RCV000398930; RCV000389085; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915489379094893790915:g.48937909C>A-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.-371T>C2200FBN1Uncertain significancers886051257RCV000336981; RCV000271454; RCV000306871; RCV000391905; RCV000360467; RCV000391916; RCV000363778; RCV000303431; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915489379614893796115:g.48937961A>G-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.-387_-384delTCTC2200FBN1Uncertain significancers886051258RCV000373829; RCV000332265; RCV000274797; RCV000328956; RCV000316910; RCV000389189; RCV000367263; RCV000278493; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915489379744893797715:g.48937974_48937977del-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.-388C>T2200FBN1Benignrs3825792RCV000285250; RCV000400138; RCV000342682; RCV000400989; RCV000281602; RCV000347994; RCV000338993; RCV000309444; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C00247915489379784893797815:g.48937978G>A-C0265287 102370 Acromicric dysplasia;
MSeqDR Portal