MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
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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 benign142196699RCV000316295; 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:C002479154870051348700513-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*2638T>C2200FBN1Uncertain significance886051219RCV000345212; 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:C002479154870054948700549-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*2594G>T2200FBN1Uncertain significance886051220RCV000291758; 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:C002479154870059348700593-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*2578C>T2200FBN1Uncertain significance761025257RCV000382541; 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:C002479154870060948700609-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*2556G>A2200FBN1Uncertain significance886051221RCV000268818; 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:C002479154870063148700631-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*2533C>A2200FBN1Uncertain significance886051222RCV000321073; 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:C002479154870065448700654-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*2524A>G2200FBN1Likely benign75372203RCV000404742; 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:C002479154870066348700663-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*2443G>T2200FBN1Uncertain significance886051223RCV000357999; 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:C002479154870074448700744-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*2421C>A2200FBN1Uncertain significance886051224RCV000405112; 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:C002479154870076648700766-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*2398G>T2200FBN1Likely benign377530465RCV000353786; 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:C002479154870078948700789-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*2395G>A2200FBN1Likely benign184719603RCV000378503; 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:C002479154870079248700792-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*2360C>G2200FBN1Likely benign144404153RCV000335111; 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:C002479154870082748700827-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*2260C>A2200FBN1Uncertain significance886051225RCV000384497; 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:C002479154870092748700927-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*2221A>G2200FBN1Uncertain significance886051226RCV000392467; 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:C002479154870096648700966-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*2158G>A2200FBN1Benign11070641RCV000264532; 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:C002479154870102948701029-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*2153A>G2200FBN1Likely benign116443051RCV000281280; 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:C002479154870103448701034-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*2114T>A2200FBN1Uncertain significance886051227RCV000392812; 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:C002479154870107348701073-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*2091G>A2200FBN1Uncertain significance575922741RCV000356041; 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:C002479154870109648701096-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*2078G>T2200FBN1Uncertain significance886051228RCV000340363; 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:C002479154870110948701109-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*2040T>C2200FBN1Benign73390272RCV000312550; 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:C002479154870114748701147-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*2024A>G2200FBN1Likely benign558488257RCV000329178; 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:C002479154870116348701163-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*1989C>T2200FBN1Likely benign56194244RCV000372156; 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:C002479154870119848701198-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*1959G>A2200FBN1Benign12050562RCV000302654; 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:C002479154870122848701228-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*1950dupT2200FBN1Likely benign535798341RCV000375638; 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:C002479154870123748701237-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*1949T>C2200FBN1Likely benign534577080RCV000344396; 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:C002479154870123848701238-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*1943G>T2200FBN1Uncertain significance886051229RCV000354569; 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:C002479154870124448701244-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*1733A>G2200FBN1Uncertain significance886051230RCV000383364; 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:C002479154870145448701454-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*1720C>T2200FBN1Likely benign557301792RCV000407356; 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:C002479154870146748701467-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*1706C>A2200FBN1Uncertain significance770825180RCV000278958; 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:C002479154870148148701481-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*1672G>A2200FBN1Uncertain significance886051231RCV000348973; 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:C002479154870151548701515-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*1635C>A2200FBN1Uncertain significance886051232RCV000316032; 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:C002479154870155248701552-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*1619T>A2200FBN1Likely benign374297351RCV000389250; 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:C002479154870156848701568-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*1580G>A2200FBN1Likely benign17352989RCV000392600; 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:C002479154870160748701607-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*1575T>G2200FBN1Benign4775760RCV000294620; 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:C002479154870161248701612-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*1562G>T2200FBN1Benign78442438RCV000330826; 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:C002479154870162548701625-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*1484C>T2200FBN1Likely benign533502309RCV000277465; 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:C002479154870170348701703-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*1477C>A2200FBN1Uncertain significance886051233RCV000279541; 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:C002479154870171048701710-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*1437G>A2200FBN1Likely benign549498511RCV000312390; 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:C002479154870175048701750-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*1398G>C2200FBN1Uncertain significance886051234RCV000377838; 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:C002479154870178948701789-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*1396C>T2200FBN1Uncertain significance886051235RCV000383831; 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:C002479154870179148701791-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*1368A>G2200FBN1Benign77212138RCV000267390; 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:C002479154870181948701819-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*1325T>C2200FBN1Likely benign569152308RCV000382883; 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:C002479154870186248701862-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*1298C>G2200FBN1Likely benign143446014RCV000375598; 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:C002479154870188948701889-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*1252A>G2200FBN1Likely benign566419089RCV000263318; 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:C002479154870193548701935-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*1245C>T2200FBN1Likely benign181099623RCV000318453; 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:C002479154870194248701942-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*1228T>C2200FBN1Likely benign372333234RCV000290559; 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:C002479154870195948701959-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*1084T>C2200FBN1Benign3803350RCV000315715; 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:C002479154870210348702103-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*1007G>T2200FBN1Uncertain significance886051236RCV000289651; 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:C002479154870218048702180-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*987C>T2200FBN1Uncertain significance886051237RCV000302863; 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:C002479154870220048702200-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*967C>T2200FBN1Likely benign56024388RCV000381977; 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:C002479154870222048702220-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*960delG2200FBN1Likely benign527621676RCV000407556; 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:C002479154870222748702227-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*948G>T2200FBN1Uncertain significance749224599RCV000313568; 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:C002479154870223948702239-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*938G>T2200FBN1Uncertain significance886051238RCV000377073; 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:C002479154870224948702249-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*867G>T2200FBN1Likely benign189749406RCV000260214; 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:C002479154870232048702320-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*764G>A2200FBN1Likely benign55717426RCV000383236; 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:C002479154870242348702423-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*730G>T2200FBN1Benign13598RCV000297172; 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:C002479154870245748702457-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*724A>C2200FBN1Uncertain significance886051239RCV000272634; 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:C002479154870246348702463-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*406G>T2200FBN1Uncertain significance886051240RCV000333425; 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:C002479154870278148702781-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*314C>T2200FBN1Benign1042078RCV000399351; 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:C002479154870287348702873-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*286C>T2200FBN1Uncertain significance886051241RCV000371394; 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:C002479154870290148702901-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*268G>C2200FBN1Uncertain significance886051242RCV000343321; 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:C002479154870291948702919-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*254C>T2200FBN1Uncertain significance886051243RCV000297265; 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:C002479154870293348702933-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*202_*203delAT2200FBN1Uncertain significance766125141RCV000291478; 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:C002479154870298448702985-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.*57A>G2200FBN1Likely benign363849RCV000334470; 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:C002479154870313048703130-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.8502T>C (p.Thr2834=)2200FBN1Benign/Likely benign363847RCV000270046; RCV000617096; RCV000366578; RCV000271998; RCV000360012; RCV000029795; RCV000233059; RCV000305317; RCV000233059; RCV000251299; RCV000386370; RCV000154577; 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:ORPHA9971154870330148703301-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.8363C>T (p.Thr2788Met)2200FBN1Conflicting interpretations of pathogenicity143007898RCV000338888; 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:ORPHA9971154870344048703440-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.8310C>T (p.His2770=)2200FBN1Likely benign112189340RCV000345706; RCV000399142; RCV000304890; RCV000273365; RCV000308744; RCV000534883; RCV000368154; RCV000399944; RCV000534883; RCV000314675; 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:C002479154870349348703493-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.8283A>T (p.Thr2761=)2200FBN1Benign/Likely benign146120912RCV000369333; RCV000619241; RCV000321804; RCV000286706; RCV000260532; RCV000029791; RCV000471768; RCV000315787; RCV000261872; RCV000471768; RCV000376421; RCV000150694; 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:ORPHA9971154870352048703520-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.8232G>C (p.Gln2744His)2200FBN1Uncertain significance376119827RCV000765217; 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,Orphan154870357148703571-C0024796 154700 Marfan syndrome;
NM_000138.4(FBN1):c.8227-3C>T2200FBN1Likely benign200822151RCV000382367; 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:C002479154870357948703579-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.8202C>T (p.Asn2734=)2200FBN1Conflicting interpretations of pathogenicity113904256RCV000353296; RCV000321428; RCV000314721; RCV000260790; RCV000299351; RCV000263983; RCV000378614; RCV000356562; 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:C002479154870479048704790-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.8185A>C (p.Lys2729Gln)2200FBN1Likely benign370096856RCV000291882; RCV000382017; RCV000352752; RCV000330476; RCV000295523; RCV000458019; RCV000267742; RCV000325046; RCV000458019; RCV000387427; 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:C002479154870480748704807-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp)2200FBN1Conflicting interpretations of pathogenicity61746008RCV000279856; RCV000399653; RCV000337198; RCV000617106; RCV000359686; RCV000029787; RCV000233164; RCV000394448; RCV000181628; RCV000233164; RCV000306003; RCV000586191; RCV000243696; 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; MeSH:D030342,MedGen:C0950123; MedGen:C1858556,OMIM:604308,Orpha154870481648704816OMIM Allelic Variant:134797.0023C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.8149G>A (p.Glu2717Lys)2200FBN1Conflicting interpretations of pathogenicity187553035RCV000270822; RCV000362980; RCV000295866; RCV000328269; RCV000229179; RCV000387643; RCV000273444; RCV000229179; RCV000365739; RCV000330801; RCV000589124; 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:C002479154870484348704843-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.8071G>A (p.Gly2691Ser)2200FBN1Uncertain significance145105768RCV000284299; RCV000397502; RCV000338124; RCV000341683; RCV000372736; RCV000400824; RCV000181626; RCV000280634; RCV000035284; 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:C002479154870492148704921-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.8027C>T (p.Pro2676Leu)2200FBN1Uncertain significance146469379RCV000765218; 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,Orphan154870775748707757-C0024796 154700 Marfan syndrome;
NM_000138.4(FBN1):c.8011C>T (p.Leu2671=)2200FBN1Uncertain significance886051244RCV000400012; 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:C002479154870777348707773-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.7852G>A (p.Gly2618Arg)2200FBN1Uncertain significance141133182RCV000765219; RCV000243980; RCV000765219; RCV000765219; RCV000765219; RCV000765219; RCV000035279; RCV000464816; RCV000765219; RCV000765219; RCV000464816; RCV000765219; RCV000590131; RCV000154182; 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,OM154870793248707932-CN230736 Cardiovascular phenotype;
NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys)2200FBN1Pathogenic/Likely pathogenic111984349RCV000763353; 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,OM154870795648707956-CN230736 Cardiovascular phenotype;
NM_000138.4(FBN1):c.7819+8A>C2200FBN1Benign363838RCV000286302; RCV000375268; RCV000321497; RCV000318289; RCV000343824; RCV000464649; RCV000264054; RCV000260707; RCV000464649; RCV000378426; RCV000035278; 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:C002479154871287648712876-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.7661G>A (p.Arg2554Gln)2200FBN1Conflicting interpretations of pathogenicity199522781RCV000382117; RCV000313030; RCV000297567; RCV000351514; RCV000347326; RCV000632066; RCV000400646; RCV000290065; RCV000632066; 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:C002479154871379348713793-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.7497A>G (p.Leu2499=)2200FBN1Benign/Likely benign148516442RCV000354691; RCV000617110; RCV000380610; RCV000301006; RCV000269555; RCV000266182; RCV000532050; RCV000323717; RCV000250819; RCV000532050; RCV000262161; RCV000154601; 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:ORPHA9971154871422248714222-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.7098C>T (p.Asp2366=)2200FBN1Benign/Likely benign1005074RCV000383922; RCV000617104; RCV000295681; RCV000292041; RCV000387684; RCV000394600; RCV000475441; RCV000334322; RCV000253159; RCV000475441; 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:ORPHA9971154871987048719870-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.7056C>T (p.Ser2352=)2200FBN1Conflicting interpretations of pathogenicity149697299RCV000303029; RCV000617115; RCV000360147; RCV000390288; RCV000299356; RCV000360515; RCV000473698; RCV000305833; RCV000245150; RCV000473698; 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:ORPHA9971154871991248719912-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.6987C>G (p.Asp2329Glu)2200FBN1Benign/Likely benign363831RCV000296204; RCV000621017; RCV000265846; RCV000262062; RCV000332220; RCV000320863; RCV000540583; RCV000317229; RCV000371988; RCV000540583; RCV000356993; 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:ORPHA9971154872055348720553-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.6957T>C (p.Asn2319=)2200FBN1Uncertain significance-1RCV000768211; 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,Orphan154872058348720583-
NM_000138.4(FBN1):c.6888G>A (p.Gln2296=)2200FBN1Benign363830RCV000304078; RCV000617036; RCV000343590; RCV000288735; RCV000397636; RCV000292617; RCV000475789; RCV000386791; RCV000245186; RCV000475789; RCV000347533; RCV000035258; 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:ORPHA9971154872065248720652-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.6855T>C (p.Asp2285=)2200FBN1Benign363836RCV000275176; RCV000617035; RCV000333900; RCV000401534; RCV000354920; RCV000358853; RCV000462738; RCV000260037; RCV000248305; RCV000462738; RCV000300615; RCV000035257; 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:ORPHA9971154872288448722884-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.6832C>T (p.Pro2278Ser)2200FBN1Benign/Likely benign363835RCV000290449; RCV000617097; RCV000659571; RCV000330298; RCV000396165; RCV000327127; RCV000029770; RCV000462457; RCV000381701; RCV000245585; RCV000462457; RCV000384720; RCV000514148; RCV000035254; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:CN230736; MedGen:C0009782; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308,Or154872290748722907-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.6806T>C (p.Ile2269Thr)2200FBN1Conflicting interpretations of pathogenicity193922228RCV000515227; RCV000246714; RCV000515227; RCV000515227; RCV000515227; RCV000586646; RCV000515227; RCV000029769; RCV000515227; RCV000534047; RCV000515227; RCV000534047; RCV000515227; RCV000255307; 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; Me154872293348722933-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.6801C>T (p.Asn2267=)2200FBN1Conflicting interpretations of pathogenicity886051245RCV000298102; 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:C002479154872293848722938-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.6681A>C (p.Ser2227=)2200FBN1Benign/Likely benign363824RCV000337285; RCV000617090; RCV000267077; RCV000380286; RCV000371886; RCV000228359; RCV000376729; RCV000322080; RCV000228359; RCV000252112; RCV000325710; RCV000755265; RCV000035251; 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:ORPHA9971154872512148725121-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg)2200FBN1Pathogenic/Likely pathogenic113543334RCV000768212; RCV000768212; RCV000768212; RCV000768212; RCV000768212; RCV000768212; RCV000768212; 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,Orphan154872514148725141-CN169374 not specified;
NM_000138.4(FBN1):c.6594C>T (p.Pro2198=)2200FBN1Benign/Likely benign111844882RCV000296128; RCV000617076; RCV000659567; RCV000311471; RCV000347609; RCV000351091; RCV000029765; RCV000205221; RCV000394388; RCV000205221; RCV000252933; RCV000307878; RCV000755530; RCV000035246; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:CN230736; MedGen:C0009782; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308,Or154872681348726813-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.6393C>T (p.Cys2131=)2200FBN1Benign/Likely benign61730051RCV000316466; RCV000617081; RCV000319265; RCV000264091; RCV000373958; RCV000230811; RCV000267504; RCV000260675; RCV000230811; RCV000244099; RCV000304002; RCV000755531; RCV000154528; 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:ORPHA9971154872926148729261-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys)2200FBN1Pathogenic/Likely pathogenic794728334RCV000768213; RCV000618917; RCV000768213; RCV000768213; RCV000768213; RCV000768213; RCV000659564; RCV000768213; RCV000768213; 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,OM154872926648729266-CN230736 Cardiovascular phenotype;
NM_000138.4(FBN1):c.6357G>C (p.Val2119=)2200FBN1Uncertain significance886051246RCV000295239; 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:C002479154872954148729541-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.6314-15G>A2200FBN1Conflicting interpretations of pathogenicity200841830RCV000343480; 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:C002479154872959948729599-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.6264G>C (p.Lys2088Asn)2200FBN1Uncertain significance886051247RCV000288350; 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:C002479154873001448730014-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.6183T>A (p.Cys2061Ter)2200FBN1Likely pathogenic-1RCV000768210; 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,Orphan154873009548730095-
NM_000138.4(FBN1):c.6095C>G (p.Thr2032Ser)2200FBN1Uncertain significance756506237RCV000339654; 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:C002479154873398648733986-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.5917+3A>G2200FBN1Conflicting interpretations of pathogenicity202158568RCV000362544; 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:C002479154873757048737570-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.5788+10C>A2200FBN1Benign/Likely benign371560107RCV000406279; RCV000281938; RCV000373882; RCV000296461; RCV000379530; RCV000540069; RCV000334596; RCV000282796; RCV000540069; RCV000321537; RCV000035234; 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:C002479154873889348738893-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.5788+4C>A2200FBN1Uncertain significance577301285RCV000396460; 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:C002479154873889948738899-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.5724A>G (p.Thr1908=)2200FBN1Conflicting interpretations of pathogenicity141219664RCV000302528; 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:ORPHA9971154873896748738967-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.5672-15C>G2200FBN1Uncertain significance776163620RCV000304842; RCV000344528; RCV000405016; RCV000291988; RCV000343242; RCV000292177; RCV000349467; RCV000383089; 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:C002479154873903448739034-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.5546-1G>A2200FBN1Likely pathogenic-1RCV000768214; 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,Orphan154874109148741091-
NM_000138.4(FBN1):c.5442C>T (p.Asn1814=)2200FBN1Benign/Likely benign397515822RCV000355990; RCV000263353; RCV000303570; RCV000354690; RCV000297465; RCV000330003; RCV000276436; RCV000397998; RCV000589101; RCV000035226; 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:C002479154874486248744862-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.5405A>G (p.Lys1802Arg)2200FBN1Uncertain significance886051248RCV000380067; 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:C002479154874885148748851-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.5296+14G>A2200FBN1Benign/Likely benign140650RCV000312797; RCV000403728; RCV000334690; RCV000395965; RCV000395971; RCV000370592; RCV000313536; RCV000282015; RCV000125012; 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:C002479154875242948752429-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.5134_5137dup (p.Asn1713Ilefs)2200FBN1Pathogenic1131692049RCV000017896; NMedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715154875536648755369OMIM Allelic Variant:134797.0012C1858556 604308 MASS syndrome;
NM_000138.4(FBN1):c.5066-14dupT2200FBN1Benign3833018RCV000273026; RCV000284902; RCV000325512; RCV000363874; RCV000377023; RCV000267078; RCV000181406; RCV000365244; RCV000155352; 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:C002479154875545148755451-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.4998C>G (p.Thr1666=)2200FBN1Conflicting interpretations of pathogenicity141925790RCV000768215; RCV000621602; RCV000768215; RCV000768215; RCV000768215; RCV000768215; RCV000473666; RCV000768215; RCV000768215; RCV000473666; 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,OM154875616348756163-CN230736 Cardiovascular phenotype;
NM_000138.4(FBN1):c.4905C>G (p.Thr1635=)2200FBN1Benign/Likely benign113115949RCV000396465; RCV000617075; RCV000279110; RCV000375783; RCV000349428; RCV000029746; RCV000204125; RCV000405306; RCV000204125; RCV000251093; RCV000296787; RCV000755533; RCV000035212; 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:ORPHA9971154875780248757802-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.4890_4891delGTinsTG (p.Gln1630_Cys1631delinsHisGly)2200FBN1Likely pathogenic-1RCV000755759; NMedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715154875781648757817-
NM_000138.4(FBN1):c.4786C>T (p.Arg1596Ter)2200FBN1Pathogenic113871094RCV000515166; RCV000515166; RCV000515166; RCV000515166; RCV000515166; RCV000029744; RCV000515166; RCV000524501; RCV000515166; RCV000524501; RCV000515166; RCV000181534; 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,Orphan154875801748758017-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.4750G>A (p.Glu1584Lys)2200FBN1Conflicting interpretations of pathogenicity148888513RCV000515425; RCV000253439; RCV000515425; RCV000515425; RCV000515425; RCV000515425; RCV000515425; RCV000632070; RCV000515425; RCV000632070; RCV000777948; RCV000515425; RCV000035210; 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,OM154875805348758053-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.4727T>C (p.Met1576Thr)2200FBN1Uncertain significance776625874RCV000765220; 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,OM154876015548760155-CN230736 Cardiovascular phenotype;
NM_000138.4(FBN1):c.4640C>T (p.Thr1547Ile)2200FBN1Conflicting interpretations of pathogenicity183306990RCV000366645; RCV000396472; RCV000323350; RCV000307321; RCV000268396; RCV000559382; RCV000358405; RCV000303714; RCV000559382; RCV000354806; RCV000035207; 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:C002479154876024248760242-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.4588C>T (p.Arg1530Cys)2200FBN1Pathogenic/Likely pathogenic111401431RCV000515364; RCV000316666; RCV000254448; RCV000261433; RCV000515364; RCV000515364; RCV000515364; RCV000515364; RCV000029740; RCV000515364; RCV000524499; RCV000515364; RCV000524499; RCV000515364; RCV000724901; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:CN239144; MedGen:CN230736; MedGen:C3541518,OMIM:129600; MedGen:C3541518,OMIM:129600; MedGen:C3280054,OMIM:614185; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C4310796,OMIM:61154876029448760294-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.4462G>T (p.Val1488Leu)2200FBN1Uncertain significance-1RCV000768216; 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,Orphan154876072948760729-
NM_000138.4(FBN1):c.4460-8G>A2200FBN1Pathogenic/Likely pathogenic193922204RCV000768217; RCV000768217; RCV000768217; RCV000768217; RCV000768217; RCV000029737; RCV000524498; RCV000768217; RCV000768217; RCV000524498; RCV000768217; RCV000429823; RCV000507229; 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,Orphan154876073948760739-C0024796 154700 Marfan syndrome;
NM_000138.4(FBN1):c.4441A>G (p.Ser1481Gly)2200FBN1Conflicting interpretations of pathogenicity61730054RCV000515317; RCV000617953; RCV000515317; RCV000515317; RCV000515317; RCV000515317; RCV000029736; RCV000515317; RCV000632057; RCV000515317; RCV000632057; RCV000515317; RCV000724063; RCV000035201; 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,OM154876284948762849-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.4358C>T (p.Pro1453Leu)2200FBN1Uncertain significance368650399RCV000765221; 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,Orphan154876293248762932-C0024796 154700 Marfan syndrome;
NM_000138.4(FBN1):c.4336+11G>A2200FBN1Uncertain significance886051249RCV000345141; 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:C002479154876473748764737-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.4313G>A (p.Ser1438Asn)2200FBN1Uncertain significance587782945RCV000291329; RCV000346355; RCV000381005; RCV000397810; RCV000143892; RCV000405079; RCV000302074; RCV000298555; RCV000181517; 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:C002479154876477148764771-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.4306G>A (p.Val1436Met)2200FBN1Conflicting interpretations of pathogenicity377338217RCV000515216; RCV000618340; RCV000515216; RCV000515216; RCV000515216; RCV000515216; RCV000515216; RCV000536927; RCV000663715; RCV000515216; RCV000536927; RCV000770669; RCV000515216; RCV000035195; 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,OM154876477848764778-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.4270C>G (p.Pro1424Ala)2200FBN1Uncertain significance201273753RCV000765222; RCV000755199; RCV000242618; RCV000765222; RCV000755199; RCV000765222; RCV000765222; RCV000765222; RCV000035194; RCV000226865; RCV000765222; RCV000765222; RCV000226865; RCV000771903; RCV000765222; RCV000586163; RCV000161118; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:C0241868; MedGen:CN230736; MedGen:C3541518,OMIM:129600; MedGen:CN240756; MedGen:C3280054,OMIM:614185; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C4310796,OMIM:616914,Orphane154876481448764814-CN230736 Cardiovascular phenotype;
NM_000138.4(FBN1):c.4049G>T (p.Cys1350Phe)2200FBN1Likely pathogenic1555397718RCV000767967; 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,Orphan154876676348766763-C0024796 154700 Marfan syndrome;
NM_000138.4(FBN1):c.3965-8T>C2200FBN1Benign/Likely benign140637RCV000273766; RCV000333438; RCV000263228; RCV000299562; RCV000029734; RCV000229052; RCV000368347; RCV000229052; RCV000382616; RCV000353387; RCV000035183; 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:C002479154876685548766855-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.3936C>T (p.Ser1312=)2200FBN1Likely benign779913610RCV000380304; RCV000617095; RCV000402570; RCV000285893; RCV000383821; RCV000233789; RCV000284767; RCV000329222; RCV000233789; 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:ORPHA9971154877388048773880-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.3896C>T (p.Thr1299Met)2200FBN1Likely benign774851476RCV000308560; RCV000337564; RCV000275695; RCV000371345; RCV000301369; RCV000632054; RCV000363188; RCV000395815; RCV000632054; RCV000311979; 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:C002479154877392048773920-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.3890A>G (p.Glu1297Gly)2200FBN1Conflicting interpretations of pathogenicity200342067RCV000273225; RCV000620106; RCV000379285; RCV000264838; RCV000316383; RCV000279942; RCV000457189; RCV000378194; RCV000324811; RCV000457189; 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:ORPHA9971154877392648773926-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.3740A>T (p.Asn1247Ile)2200FBN1Likely benign568625812RCV000404390; 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:C002479154877611348776113-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.3712G>A (p.Asp1238Asn)2200FBN1Pathogenic/Likely pathogenic794728208RCV000763355; RCV000763355; RCV000763355; RCV000763355; RCV000763355; RCV000659532; RCV000763355; RCV000763355; 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,Orphan154877757148777571-C0024796 154700 Marfan syndrome;
NM_000138.4(FBN1):c.3675G>A (p.Pro1225=)2200FBN1Benign/Likely benign148147223RCV000316809; RCV000617087; RCV000364827; RCV000361432; RCV000301998; RCV000029733; RCV000466877; RCV000396408; RCV000242597; RCV000466877; RCV000266354; RCV000150701; 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:ORPHA9971154877760848777608-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.3570C>T (p.Pro1190=)2200FBN1Likely benign188317014RCV000292452; RCV000288996; RCV000405976; RCV000388029; RCV000318384; RCV000459741; RCV000386927; RCV000344315; RCV000459741; RCV000333379; 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:C002479154877929148779291-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.3464-5G>A2200FBN1Benign11853943RCV000331777; RCV000617026; RCV000272132; RCV000367794; RCV000380696; RCV000333151; RCV000329551; RCV000244497; RCV000275773; RCV000154234; 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:ORPHA9971154877940248779402-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.3463+3A>G2200FBN1Benign/Likely benign80344206RCV000406396; RCV000617052; RCV000342160; RCV000377058; RCV000380365; RCV000285026; RCV000474941; RCV000336424; RCV000244214; RCV000474941; RCV000278991; RCV000035174; 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:ORPHA9971154877950648779506-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.3462C>T (p.Ile1154=)2200FBN1Uncertain significance144339604RCV000767969; RCV000767969; RCV000767969; RCV000767969; RCV000767969; RCV000767969; RCV000767969; 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,Orphan154877951048779510-CN517202 not provided;
NM_000138.4(FBN1):c.3423G>A (p.Pro1141=)2200FBN1Likely benign140396599RCV000364769; RCV000620939; RCV000371111; RCV000269509; RCV000272535; RCV000314068; RCV000632032; RCV000390665; RCV000320608; RCV000632032; RCV000308253; RCV000035171; 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:ORPHA9971154877954948779549-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.3422C>T (p.Pro1141Leu)2200FBN1Conflicting interpretations of pathogenicity2228241RCV000375425; RCV000617071; RCV000292691; RCV000377620; RCV000323814; RCV000228084; RCV000266428; RCV000279248; RCV000228084; RCV000251557; RCV000337118; RCV000035170; 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:ORPHA9971154877955048779550-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.3337+11G>A2200FBN1Conflicting interpretations of pathogenicity368726848RCV000358194; 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:C002479154878029948780299-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.3171C>T (p.Ser1057=)2200FBN1Likely benign144400069RCV000317643; RCV000263644; RCV000330505; RCV000259959; RCV000294634; RCV000387388; RCV000355963; RCV000361759; 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:C002479154878060248780602-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.3089A>G (p.Asn1030Ser)2200FBN1Conflicting interpretations of pathogenicity375996640RCV000333243; RCV000617142; RCV000288603; RCV000380751; RCV000392157; RCV000341215; RCV000283744; RCV000253902; RCV000403646; 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:ORPHA9971154878068448780684-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.3082+6A>G2200FBN1Benign79321504RCV000353801; RCV000357104; RCV000331361; RCV000274040; RCV000233860; RCV000369706; RCV000305971; RCV000233860; RCV000300233; RCV000394072; RCV000514869; RCV000150702; 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:C002479154878204248782042-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.3069G>A (p.Lys1023=)2200FBN1Benign/Likely benign199789628RCV000277668; RCV000620058; RCV000320533; RCV000290661; RCV000285275; RCV000377538; RCV000538948; RCV000342553; RCV000382699; RCV000538948; RCV000325630; 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:ORPHA9971154878206148782061-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.2979C>T (p.Cys993=)2200FBN1Likely benign150126098RCV000349848; 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:C002479154878215148782151-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.2956G>A (p.Ala986Thr)2200FBN1Conflicting interpretations of pathogenicity112287730RCV000366054; RCV000617040; RCV000659523; RCV000309065; RCV000362429; RCV000264604; RCV000029720; RCV000232842; RCV000268151; RCV000143891; RCV000232842; RCV000322108; RCV000035156; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:CN230736; MedGen:C0009782; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308,Or154878217448782174-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.2934C>G (p.Asp978Glu)2200FBN1Conflicting interpretations of pathogenicity138438849RCV000767970; RCV000248615; RCV000767970; RCV000767970; RCV000767970; RCV000767970; RCV000632063; RCV000659521; RCV000767970; RCV000767970; RCV000632063; 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,OM154878219648782196-CN230736 Cardiovascular phenotype;
NM_000138.4(FBN1):c.2903C>T (p.Thr968Ile)2200FBN1Uncertain significance781698952RCV000316367; 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:C002479154878222748782227-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.2895G>A (p.Glu965=)2200FBN1Benign/Likely benign140591RCV000406637; RCV000619238; RCV000356235; RCV000310979; RCV000261460; RCV000227421; RCV000350683; RCV000362108; RCV000227421; RCV000297968; RCV000314502; RCV000035154; 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:ORPHA9971154878223548782235-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.2855-9C>T2200FBN1Benign/Likely benign140590RCV000327947; RCV000273258; RCV000288136; RCV000352381; RCV000382543; RCV000470457; RCV000322516; RCV000267449; RCV000470457; RCV000377099; RCV000035153; 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:C002479154878228448782284-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.2678-12T>C2200FBN1Benign/Likely benign200368037RCV000294072; 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,OM154878646348786463-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.2645C>T (p.Ala882Val)2200FBN1Pathogenic/Likely pathogenic794728195RCV000763356; RCV000617207; RCV000763356; RCV000763356; RCV000763356; RCV000780242; RCV000763356; RCV000663562; RCV000763356; RCV000763356; RCV000616479; RCV000763356; RCV000181465; 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; Me154878735248787352-CN230736 Cardiovascular phenotype;
NM_000138.4(FBN1):c.2600A>G (p.Asn867Ser)2200FBN1Uncertain significance145464311RCV000763968; 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,OM154878739748787397-CN230736 Cardiovascular phenotype;
NM_000138.4(FBN1):c.2581C>T (p.Arg861Ter)2200FBN1Pathogenic140583RCV000767971; RCV000620881; RCV000767971; RCV000767971; RCV000767971; RCV000590228; RCV000767971; RCV000663557; RCV000767971; RCV000767971; RCV000614836; 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; Me154878741648787416-CN230736 Cardiovascular phenotype;
NM_000138.4(FBN1):c.2506delA (p.Ser836Valfs)2200FBN1Pathogenic-1RCV000678259; RCV000678258; NMedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C0024796,OMIM:154700, Orphanet:ORPHA284963, Orphanet:ORPHA558,SNOMED CT:19346006154878769948787699-C0024796 154700 Marfan syndrome;
NM_000138.4(FBN1):c.2420-8T>C2200FBN1Benign/Likely benign140582RCV000326569; RCV000301668; RCV000359876; RCV000404502; RCV000305268; RCV000550392; RCV000365668; RCV000271453; RCV000550392; RCV000404732; RCV000124997; 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:C002479154878779348787793-C0265287 102370 Acromicric dysplasia;
NC_000015.10:g.48496208_48496218delGTACACATTCA2200FBN1Pathogenic-1RCV000767972; 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,Orphan154878840148788411-
NM_000138.4(FBN1):c.2287T>G (p.Cys763Gly)2200FBN1Uncertain significance1555399361RCV000767973; 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,Orphan154878946948789469-C0024796 154700 Marfan syndrome;
NM_000138.4(FBN1):c.2206A>G (p.Asn736Asp)2200FBN1Uncertain significance878853678RCV000763969; 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,Orphan154878955048789550-C0024796 154700 Marfan syndrome;
NM_000138.4(FBN1):c.2175T>C (p.Asn725=)2200FBN1Benign/Likely benign140606RCV000373239; RCV000617118; RCV000659516; RCV000278611; RCV000319536; RCV000386967; RCV000292591; RCV000556783; RCV000362638; RCV000245903; RCV000556783; RCV000332480; RCV000035132; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:CN230736; MedGen:C0009782; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308,Or154878958148789581-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.1948C>T (p.Arg650Cys)2200FBN1Pathogenic/Likely pathogenic193922185RCV000763357; RCV000763357; RCV000763357; RCV000763357; RCV000763357; RCV000029702; RCV000631908; RCV000763357; RCV000763357; RCV000631908; RCV000763357; RCV000493360; RCV000507859; 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,Orphan154879723448797234-C0024796 154700 Marfan syndrome;
NM_000138.4(FBN1):c.1879C>T (p.Arg627Cys)2200FBN1Pathogenic727503057RCV000767974; RCV000767974; RCV000767974; RCV000767974; RCV000767974; RCV000150704; RCV000524497; RCV000767974; RCV000767974; RCV000524497; RCV000767974; 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,Orphan154879730348797303-C0024796 154700 Marfan syndrome;
NM_000138.4(FBN1):c.1875T>C (p.Asn625=)2200FBN1Benign25458RCV000403165; RCV000617025; RCV000339694; RCV000308852; RCV000363506; RCV000343102; RCV000393803; RCV000249440; RCV000284642; RCV000755261; RCV000035131; 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:ORPHA9971154879730748797307-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.1837+9T>C2200FBN1Likely benign56102085RCV000329612; RCV000369312; RCV000356505; RCV000274563; RCV000314567; RCV000317788; RCV000372486; RCV000261680; 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:C002479154880077048800770-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.1746C>T (p.Cys582=)2200FBN1Benign/Likely benign112366266RCV000323459; RCV000617077; RCV000659510; RCV000289240; RCV000348111; RCV000283870; RCV000029701; RCV000206235; RCV000287193; RCV000206235; RCV000242878; RCV000344165; RCV000035125; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:CN230736; MedGen:C0009782; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308,Or154880087048800870-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys)2200FBN1Pathogenic730880099RCV000763358; RCV000621314; RCV000763358; RCV000763358; RCV000763358; RCV000589881; RCV000763358; RCV000157225; RCV000631935; RCV000763358; RCV000763358; RCV000631935; RCV000763358; RCV000256026; RCV000507510; 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; Me154880232248802322-CN230736 Cardiovascular phenotype;
NM_000138.4(FBN1):c.1602T>C (p.Cys534=)2200FBN1Conflicting interpretations of pathogenicity377386372RCV000405863; RCV000301280; RCV000313942; RCV000392073; RCV000356074; RCV000632069; RCV000350131; RCV000305364; RCV000632069; RCV000259442; 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:C002479154880235348802353-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.1468+5G>A2200FBN1Pathogenic/Likely pathogenic397515757RCV000515263; RCV000617138; RCV000515263; RCV000515263; RCV000515263; RCV000515263; RCV000035117; RCV000515263; RCV000631905; RCV000515263; RCV000251716; RCV000631905; RCV000515263; RCV000181432; 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,OM154880757948807579-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.1468+4C>A2200FBN1Uncertain significance765579667RCV000320302; 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:C002479154880758048807580-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.1462T>C (p.Cys488Arg)2200FBN1Pathogenic/Likely pathogenic1555400373RCV000763359; 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,Orphan154880759048807590-C0024796 154700 Marfan syndrome;
NM_000138.4(FBN1):c.1371C>G (p.Arg457=)2200FBN1Benign/Likely benign25436RCV000334927; RCV000621106; RCV000403864; RCV000392395; RCV000298546; RCV000292647; RCV000460610; RCV000350913; RCV000386737; RCV000460610; 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:ORPHA9971154880768148807681-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.1193G>A (p.Arg398Lys)2200FBN1Uncertain significance886051250RCV000359336; 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:C002479154880851448808514-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.1029G>A (p.Gly343=)2200FBN1Benign/Likely benign75655780RCV000386496; RCV000617082; RCV000329811; RCV000371532; RCV000280433; RCV000228782; RCV000343371; RCV000286097; RCV000228782; RCV000248879; RCV000277154; RCV000755534; RCV000154511; 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:ORPHA9971154881297448812974-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.1027G>A (p.Gly343Arg)2200FBN1Conflicting interpretations of pathogenicity146726731RCV000284823; RCV000617536; RCV000659507; RCV000315057; RCV000307377; RCV000404755; RCV000148500; RCV000463596; RCV000393539; RCV000393542; RCV000463596; RCV000364336; RCV000588674; RCV000181421; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:CN230736; MedGen:C0009782; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308,Or154881297648812976-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.986T>C (p.Ile329Thr)2200FBN1Conflicting interpretations of pathogenicity12324002RCV000357359; RCV000617083; RCV000317702; RCV000318940; RCV000378588; RCV000029796; RCV000470151; RCV000260104; RCV000248877; RCV000470151; RCV000286405; RCV000757263; RCV000035295; 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:ORPHA9971154881832948818329-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.902G>T (p.Gly301Val)2200FBN1Conflicting interpretations of pathogenicity142888621RCV000289798; RCV000617116; RCV000377435; RCV000347117; RCV000320502; RCV000407491; RCV000461203; RCV000288772; RCV000247580; RCV000461203; RCV000407488; 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:ORPHA9971154881841348818413-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.885T>G (p.Ile295Met)2200FBN1Likely benign151056963RCV000324354; 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:C002479154881843048818430-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.793A>T (p.Thr265Ser)2200FBN1Uncertain significance982468949RCV000763970; 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,Orphan154882634648826346-C0024796 154700 Marfan syndrome;
NM_000138.4(FBN1):c.783T>C (p.Asn261=)2200FBN1Benign/Likely benign113721547RCV000348393; RCV000617117; RCV000295843; RCV000387961; RCV000327721; RCV000226331; RCV000265635; RCV000326369; RCV000226331; 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:ORPHA9971154882635648826356-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.723G>A (p.Thr241=)2200FBN1Uncertain significance757264206RCV000280636; 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:C002479154882982148829821-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.718C>T (p.Arg240Cys)2200FBN1Pathogenic/Likely pathogenic137854480RCV000515367; RCV000017925; RCV000515367; RCV000515367; RCV000515367; RCV000515367; RCV000017924; RCV000515367; RCV000631968; RCV000515367; RCV000631968; RCV000515367; RCV000181681; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:C3541518,OMIM:129600; MedGen:C3541518,OMIM:129600; MedGen:C3280054,OMIM:614185; MedGen:C1858556,OMIM:604308, Orphanet:ORPHA99715; MedGen:C4310796,OMIM:616914, Orphanet:ORPHA300382; MedGen154882982648829826OMIM Allelic Variant:134797.0042C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.589G>C (p.Gly197Arg)2200FBN1Uncertain significance886051251RCV000363127; 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:C002479154882995548829955-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.538+4A>G2200FBN1Benign/Likely benign375721252RCV000339135; RCV000286081; RCV000393946; RCV000374739; RCV000331838; RCV000467366; RCV000282551; RCV000335275; RCV000467366; RCV000373450; 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:C002479154888847648888476-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.510C>T (p.Tyr170=)2200FBN1Conflicting interpretations of pathogenicity111671429RCV000393923; RCV000619362; RCV000368323; RCV000277063; RCV000308793; RCV000029748; RCV000456461; RCV000369297; RCV000311281; RCV000456461; RCV000307637; RCV000726148; RCV000035220; 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:ORPHA9971154888850848888508-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.396T>C (p.Asp132=)2200FBN1Likely benign147481356RCV000323098; RCV000323069; RCV000319459; RCV000261983; RCV000260867; RCV000353385; RCV000286834; RCV000380093; 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:C002479154889238248892382-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.306C>T (p.Cys102=)2200FBN1Benign/Likely benign25388RCV000407439; RCV000617060; RCV000659501; RCV000293746; RCV000382318; RCV000287932; RCV000230637; RCV000348609; RCV000347453; RCV000230637; RCV000253616; RCV000313423; RCV000756133; RCV000154417; NMedGen:C0265287,OMIM:102370, Orphanet:ORPHA969,SNOMED CT:254090007; MedGen:CN230736; MedGen:C0009782; Human Phenotype Ontology:HP:0001083,MedGen:C0013581, Orphanet:ORPHA1885,SNOMED CT:74969002; MedGen:C3489726, Orphanet:ORPHA2623; MedGen:C1858556,OMIM:604308,Or154890296548902965-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.223C>T (p.Pro75Ser)2200FBN1Uncertain significance886051252RCV000360782; 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:C002479154890523148905231-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.164+5A>G2200FBN1Uncertain significance397515760RCV000763971; RCV000763971; RCV000763971; RCV000763971; RCV000763971; RCV000763971; RCV000763971; RCV000763971; RCV000035122; 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,Orphan154893679848936798-CN169374 not specified;
NM_000138.4(FBN1):c.156G>T (p.Ala52=)2200FBN1Benign25398RCV000398855; RCV000617031; RCV000385087; RCV000296256; RCV000386400; RCV000351709; RCV000461115; RCV000325900; RCV000246584; RCV000461115; RCV000331811; RCV000755264; RCV000035120; 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:ORPHA9971154893681148936811-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.83A>G (p.Asn28Ser)2200FBN1Uncertain significance193922245RCV000763972; RCV000763972; RCV000763972; RCV000763972; RCV000763972; RCV000231311; RCV000763972; RCV000763972; RCV000231311; RCV000763972; RCV000181490; 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,Orphan154893688448936884-C0024796 154700 Marfan syndrome;
NM_000138.4(FBN1):c.79G>A (p.Ala27Thr)2200FBN1Benign/Likely benign25397RCV000391023; RCV000617157; RCV000363432; RCV000303596; RCV000304049; RCV000358510; RCV000465792; RCV000338830; RCV000246481; RCV000465792; RCV000391019; RCV000588579; RCV000150707; 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:ORPHA9971154893688848936888-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.-35C>T2200FBN1Benign/Likely benign199781948RCV000329758; RCV000309737; RCV000274751; RCV000364683; RCV000268703; RCV000389006; RCV000317098; RCV000276038; RCV000755266; RCV000124995; 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:C002479154893700148937001-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.-70C>A2200FBN1Uncertain significance886051253RCV000371839; 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:C002479154893703648937036-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.-98G>T2200FBN1Uncertain significance886051254RCV000313642; 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:C002479154893706448937064-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.-132A>C2200FBN1Uncertain significance886051255RCV000285341; 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:C002479154893709848937098-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.-136G>C2200FBN1Uncertain significance879283668RCV000406680; 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:C002479154893710248937102-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.-176A>T2200FBN1Conflicting interpretations of pathogenicity560004254RCV000268782; RCV000264869; RCV000300292; RCV000392987; RCV000324750; RCV000360793; RCV000328495; RCV000359548; RCV000124992; 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:C002479154893714248937142-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.-319G>T2200FBN1Uncertain significance886051256RCV000293368; 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:C002479154893790948937909-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.-371T>C2200FBN1Uncertain significance886051257RCV000336981; 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:C002479154893796148937961-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.-387_-384delTCTC2200FBN1Uncertain significance886051258RCV000373829; 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:C002479154893797448937977-C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.-388C>T2200FBN1Benign3825792RCV000285250; 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:C002479154893797848937978-C0265287 102370 Acromicric dysplasia;
MSeqDR Portal