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Familial ectopia lentis (C536184)
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ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)

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 Sister Nodes: 
..expandECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:4001
Name:ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
Definition:
Alternative IDs:DO:DOID:0111150
ParentIDs:MESH:C536184
TreeNumbers:C11.250.300/C536184/129600 |C11.510.598.373/C536184/129600 |C16.131.384.405/C536184/129600
Synonyms:ECTOL1
Slim Mappings:Congenital abnormality|Eye disease
Reference: MedGen: 129600
MeSH: 129600
OMIM: 129600;
MSeqDR LSDB:  
Genes: FBN1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001083Ectopia lentis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000138.5(FBN1):c.*2592T>C2200FBN1Uncertain significance752936528RCV001120499|RCV001120501|RCV001120500|RCV001120502|RCV001120503|RCV001120504; NMONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900,Or15487005954870059515:g.48700595A>G-
NM_000138.5(FBN1):c.*2556G>A2200FBN1Uncertain significance886051221RCV000268818|RCV000274528|RCV000315490|RCV000327389|RCV000355135|RCV000365643|RCV000366847; NMONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MON154870063148700631NC_000015.9:g.48700631C>TClinGen:CA10647063C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.*2524A>G2200FBN1Benign/Likely benign75372203RCV000351282|RCV000279786|RCV000363823|RCV000364877|RCV000312531|RCV001785561|RCV000405503|RCV000404742; NMONDO:MONDO:0000127,MedGen:C3489726,OMIM:PS231050, Orphanet:2623|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963154870066348700663NC_000015.9:g.48700663T>CClinGen:CA10646149C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.*2398G>T2200FBN1Conflicting interpretations of pathogenicity377530465RCV000261507|RCV000262543|RCV000353786|RCV000359661|RCV000341826|RCV000302246|RCV000403235; NMONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600,Orpha154870078948700789NC_000015.9:g.48700789C>AClinGen:CA10642073C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.*2395G>A2200FBN1Conflicting interpretations of pathogenicity184719603RCV000287516|RCV000274471|RCV000327277|RCV000333103|RCV000378503|RCV000344869|RCV000384154; NMONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0000127,MedGen:C3489726,OMIM:PS231050, Orphanet:2623|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600,Or154870079248700792NC_000015.9:g.48700792C>TClinGen:CA10636118C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.*2221A>G2200FBN1Uncertain significance886051226RCV000278075|RCV000286835|RCV000293725|RCV000323068|RCV000372615|RCV000376601|RCV000392467; NMONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900,O15487009664870096615:g.48700966T>CClinGen:CA10642077C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.*2158G>A2200FBN1Benign11070641RCV000264532|RCV000359463|RCV000362911|RCV000309412|RCV000313560|RCV000406604|RCV000402950|RCV001597076; NMONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|M15487010294870102915:g.48701029C>TClinGen:CA10642078C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.*2114T>A2200FBN1Uncertain significance886051227RCV000287436|RCV000296668|RCV000303730|RCV000347116|RCV000351700|RCV000358503|RCV000392812; NMONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|15487010734870107315:g.48701073A>TClinGen:CA10636120C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.*2091G>A2200FBN1Conflicting interpretations of pathogenicity575922741RCV000319804|RCV000354953|RCV000356041|RCV000330197|RCV000275353|RCV000304791|RCV000403277|RCV003391137; NMONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963,O15487010964870109615:g.48701096C>TClinGen:CA10647076C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.*2044C>T2200FBN1Uncertain significance561911965RCV001117200|RCV001115772|RCV001115773|RCV001117201|RCV001117202|RCV001117203; NMONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|15487011434870114315:g.48701143G>A-
NM_000138.5(FBN1):c.*2040T>C2200FBN1Benign73390272RCV000312550|RCV000297405|RCV000367193|RCV000337771|RCV000341696|RCV000393126|RCV000404349|RCV001597077; NMONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MON15487011474870114715:g.48701147A>GClinGen:CA10636122C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.*1959G>A2200FBN1Benign12050562RCV000267364|RCV000324776|RCV000359699|RCV000302654|RCV000308516|RCV000390902|RCV000405917|RCV001613015; NMONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|M154870122848701228NC_000015.9:g.48701228C>TClinGen:CA10636124C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.*1706C>A2200FBN1Uncertain significance770825180RCV000266293|RCV000271046|RCV000278958|RCV000328431|RCV000364319|RCV000377181|RCV000380579; NMONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MONDO:MONDO:0000127,MedGen:C3489726,OMIM:PS231050, Orphanet:2623|MO154870148148701481NC_000015.9:g.48701481G>TClinGen:CA10646162C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.*1619T>A2200FBN1Conflicting interpretations of pathogenicity374297351RCV000261642|RCV000287964|RCV000319132|RCV000345094|RCV000351126|RCV000385314|RCV000389250; NMONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0000127,MedGen:C3489726,OMIM:PS231050, Orphanet:2623|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|154870156848701568NC_000015.9:g.48701568A>TClinGen:CA10642081C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.*1580G>A2200FBN1Conflicting interpretations of pathogenicity17352989RCV000291314|RCV000304567|RCV000298828|RCV000339349|RCV000392600|RCV000390840|RCV000392595|RCV002262989; NMONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0000127,MedGen:C3489726,OMIM:PS231050, Orphanet:2623|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:188154870160748701607NC_000015.9:g.48701607C>TClinGen:CA10636134C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.*1575T>G2200FBN1Benign4775760RCV000356014|RCV000334072|RCV000294620|RCV000276624|RCV000330398|RCV000381682|RCV000368857|RCV001718649; NMONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0000127,MedGen:C3489726,OMIM:PS231050, Orphanet:2623|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|M154870161248701612NC_000015.9:g.48701612A>CClinGen:CA10647077C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.*1398G>C2200FBN1Uncertain significance886051234RCV000263239|RCV000264723|RCV000268174|RCV000299626|RCV000323148|RCV000367086|RCV000377838; NMONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600,O154870178948701789NC_000015.9:g.48701789C>GClinGen:CA10646170C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.*1375A>C2200FBN1Uncertain significance1049315076RCV001121092|RCV001121094|RCV001121093|RCV001121095|RCV001121096|RCV001121097; NMONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Or15487018124870181215:g.48701812T>G-
NM_000138.5(FBN1):c.*1341C>T2200FBN1Conflicting interpretations of pathogenicity766719764RCV001116190|RCV001116191|RCV001117626|RCV001117627|RCV001117628|RCV001117629|RCV002292607; NMONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|15487018464870184615:g.48701846G>A-
NM_000138.5(FBN1):c.*1325T>C2200FBN1Conflicting interpretations of pathogenicity569152308RCV000269334|RCV000273266|RCV000293993|RCV000328336|RCV000330382|RCV000382883|RCV000388211; NMONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600,Or154870186248701862NC_000015.9:g.48701862A>GClinGen:CA10642086C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.*1298C>G2200FBN1Conflicting interpretations of pathogenicity143446014RCV000281194|RCV000285339|RCV000336286|RCV000375598|RCV000340264|RCV000309827|RCV000390296|RCV002262990; NMONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370,O154870188948701889NC_000015.9:g.48701889G>CClinGen:CA10646174C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.*1252A>G2200FBN1Conflicting interpretations of pathogenicity566419089RCV000263318|RCV000331274|RCV000276179|RCV000370706|RCV000364551|RCV000306316|RCV000407560|RCV002262991; NMONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orp154870193548701935NC_000015.9:g.48701935T>CClinGen:CA10647078C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.*1249A>G2200FBN1Uncertain significance1456413075RCV001116296|RCV001116298|RCV001116297|RCV001116299|RCV001116300|RCV001116301; NMONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600,O15487019384870193815:g.48701938T>C-
NM_000138.5(FBN1):c.*1245C>T2200FBN1Conflicting interpretations of pathogenicity181099623RCV000318453|RCV000284615|RCV000278523|RCV000339596|RCV000373063|RCV000379062|RCV000399830; NMONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|M154870194248701942NC_000015.9:g.48701942G>AClinGen:CA10647080C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.*1228T>C2200FBN1Benign/Likely benign372333234RCV000313497|RCV000355296|RCV000290559|RCV000370471|RCV000345563|RCV000402058|RCV000407922; NMONDO:MONDO:0000127,MedGen:C3489726,OMIM:PS231050, Orphanet:2623|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600,Orp154870195948701959NC_000015.9:g.48701959A>GClinGen:CA10646178C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.*1201T>G2200FBN1Uncertain significance574181586RCV001119295|RCV001119294|RCV001119292|RCV001119293|RCV001121311|RCV001121312; NMONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orp15487019864870198615:g.48701986A>C-
NM_000138.5(FBN1):c.*1122C>T2200FBN1Uncertain significance2042846511RCV001121317|RCV001121316|RCV001121318|RCV001121313|RCV001121314|RCV001121315; NMONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900,O15487020654870206515:g.48702065G>A-
NM_000138.5(FBN1):c.*1084T>C2200FBN1Benign3803350RCV000315715|RCV000262768|RCV000268512|RCV000271895|RCV000321291|RCV000354136|RCV000329569; NMONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0000127,MedGen:C3489726,OMIM:PS231050, Orphanet:2623|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600,Orp154870210348702103NC_000015.9:g.48702103A>GClinGen:CA10636135C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.*968G>A2200FBN1Uncertain significance999275120RCV001117848|RCV001116397|RCV001117844|RCV001117845|RCV001117846|RCV001117847; NMONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MON15487022194870221915:g.48702219C>T-
NM_000138.5(FBN1):c.*967C>T2200FBN1Conflicting interpretations of pathogenicity56024388RCV000293685|RCV000275807|RCV000336915|RCV000333566|RCV000381977|RCV000385769|RCV000375442; NMONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Or154870222048702220NC_000015.9:g.48702220G>AClinGen:CA10647082C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.*948G>T2200FBN1Uncertain significance749224599RCV000262978|RCV000270222|RCV000273589|RCV000313568|RCV000315639|RCV000355355|RCV000370556; NMONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0000127,MedGen:C3489726,OMIM:PS231050, Orphanet:2623|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370,Or154870223948702239NC_000015.9:g.48702239C>AClinGen:CA10636140C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.*867G>T2200FBN1Benign/Likely benign189749406RCV000260214|RCV000299863|RCV000315498|RCV000345881|RCV000357081|RCV000367382|RCV000398682|RCV001712027; NMONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|M154870232048702320NC_000015.9:g.48702320C>AClinGen:CA10646184C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.*845C>T2200FBN1Uncertain significance1022238055RCV001116503|RCV001116504|RCV001116499|RCV001116500|RCV001116501|RCV001116502; NMONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963,O15487023424870234215:g.48702342G>A-
NM_000138.5(FBN1):c.*779C>T2200FBN1Conflicting interpretations of pathogenicity113200355RCV001116505|RCV001117950|RCV001117949|RCV001117945|RCV001117946|RCV001117947|RCV001117948; NMONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600,Or15487024084870240815:g.48702408G>A-
NM_000138.5(FBN1):c.*730G>T2200FBN1Benign13598RCV000294541|RCV000297172|RCV000293740|RCV000336986|RCV000354587|RCV000394077|RCV000401006|RCV001718650; NMONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0000127,MedGen:C3489726,OMIM:PS231050,Orp154870245748702457NC_000015.9:g.48702457C>AClinGen:CA10636144C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.*724A>C2200FBN1Uncertain significance886051239RCV000265727|RCV000272634|RCV000309194|RCV000327670|RCV000358030|RCV000366243|RCV000390863; NMONDO:MONDO:0000127,MedGen:C3489726,OMIM:PS231050, Orphanet:2623|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|M15487024634870246315:g.48702463T>GClinGen:CA10646185C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.*399C>A2200FBN1Uncertain significance2042852375RCV001118050|RCV001118052|RCV001118049|RCV001118051|RCV001118053|RCV001118054; NMONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963,Orph15487027884870278815:g.48702788G>T-
NM_000138.5(FBN1):c.*314C>T2200FBN1Benign1042078RCV000275580|RCV000305212|RCV000310625|RCV000340144|RCV000365337|RCV000399351|RCV000401289|RCV001653551; NMONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0000127,MedGen:C3489726,OMIM:PS231050, Orphanet:2623|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|M15487028734870287315:g.48702873G>AClinGen:CA10646191C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.*253A>T2200FBN1Uncertain significance539383558RCV001121688|RCV001121689|RCV001121690|RCV001121691|RCV001121692|RCV001121693; NMONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS27760015487029344870293415:g.48702934T>A-
NM_000138.5(FBN1):c.*252G>A2200FBN1Uncertain significance1407193739RCV001116821|RCV001116823|RCV001116822|RCV001116819|RCV001116820|RCV001121694; NMONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:2849615487029354870293515:g.48702935C>T-
NM_000138.5(FBN1):c.*107A>G2200FBN1Uncertain significance562749473RCV001118278|RCV001118279|RCV001118280|RCV001118281|RCV001118282|RCV001119803; NMONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600,Orpha15487030804870308015:g.48703080T>C-
NM_000138.5(FBN1):c.*43A>T2200FBN1Conflicting interpretations of pathogenicity144710695RCV001121791|RCV001121792|RCV001121794|RCV001121796|RCV001121797|RCV001121793|RCV001121795; NMONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600,Or15487031444870314415:g.48703144T>A-
NM_000138.5(FBN1):c.8356A>G (p.Thr2786Ala)2200FBN1Uncertain significance781352764RCV000817044|RCV001118378|RCV001119912|RCV001118379|RCV001118380|RCV001118377|RCV001119911; NMONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387; MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900,O15487034474870344715:g.48703447T>C-
NM_000138.5(FBN1):c.8202C>T (p.Asn2734=)2200FBN1Conflicting interpretations of pathogenicity113904256RCV000263983|RCV000299351|RCV000321428|RCV000314721|RCV000353296|RCV000356562|RCV000378614|RCV000868868|RCV001718651; NMONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0000127,MedGen:C3489726,OMIM:PS231050,Or154870479048704790NC_000015.9:g.48704790G>AClinGen:CA059755C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.8138A>G (p.Glu2713Gly)2200FBN1Uncertain significance1555393658RCV000662145|RCV000662146|RCV000662147|RCV000662148|RCV000662144|RCV000662149; NMONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0013612,MedGen:C3280054,OMIM:614185, Orphanet:2623|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MONDO:154870485448704854NC_000015.9:g.48704854T>C-C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.8014T>G (p.Cys2672Gly)2200FBN1Likely pathogenic1555393833RCV000632014|RCV001535542|RCV002314297; NMONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558; MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0011431,MedGen:C1858556,OMIM:604308, Orphanet:99715; MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600,154870777048707770NC_000015.9:g.48707770A>CClinGen:CA392322650CN230736 Cardiovascular phenotype;
NM_000138.5(FBN1):c.8011C>T (p.Leu2671=)2200FBN1Conflicting interpretations of pathogenicity886051244RCV000276241|RCV000311417|RCV000333625|RCV000353238|RCV000363876|RCV000368473|RCV000400012; NMONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,154870777348707773NC_000015.9:g.48707773G>AClinGen:CA10646196C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.7820-4G>A2200FBN1Conflicting interpretations of pathogenicity750036723RCV000603775|RCV001120092|RCV001120093|RCV001120094|RCV001120095|RCV001120096|RCV001120098|RCV001120097; NMedGen:CN169374|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0000127,MedGen:C3489726,O15487079684870796815:g.48707968C>TClinGen:CA059248CN169374 not specified;
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln)2200FBN1Conflicting interpretations of pathogenicity199522781RCV000290065|RCV000297567|RCV000313030|RCV000347326|RCV000382117|RCV000396029|RCV000400646|RCV000454621|RCV000766961|RCV001081111; NMONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0000127,MedGen:C3489726,OMIM:PS231050, Orphanet:2623|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:28496154871379348713793NC_000015.9:g.48713793C>TClinGen:CA058980C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.7554C>A (p.His2518Gln)2200FBN1Uncertain significance2042946233RCV001116923|RCV001116924|RCV001116925|RCV001116926|RCV001116927|RCV001120203; NMONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900,Orpha15487141654871416515:g.48714165G>T-
NM_000138.5(FBN1):c.7360C>A (p.Pro2454Thr)2200FBN1Uncertain significance1166405014RCV001053236|RCV001115596|RCV001115597|RCV001115598|RCV001115599|RCV001115600|RCV001120505|RCV001547246; NMONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387; MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900,O15487176594871765915:g.48717659G>T-
NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys)2200FBN1Pathogenic/Likely pathogenic137854464RCV000017899|RCV000417099|RCV000422790|RCV000695313|RCV000844887|RCV002381253; NMONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MedGen:C3661900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387; MONDO:MONDO:0007947,MedGen:C0024715487176804871768015:g.48717680C>TClinGen:CA017155,OMIM:134797.0015C1851286 129600 Ectopia lentis, isolated, autosomal dominant;
NM_000138.5(FBN1):c.7098C>T (p.Asp2366=)2200FBN1Benign/Likely benign1005074RCV000181409|RCV000253159|RCV000292041|RCV000295681|RCV000334322|RCV000326972|RCV000383922|RCV000394600|RCV000755262|RCV001812166; NMedGen:CN169374|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0000127,MedGen:C3489726,OMIM:PS231050, Orphanet:2623|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:18490154871987048719870NC_000015.9:g.48719870G>AClinGen:CA017012C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys)2200FBN1Conflicting interpretations of pathogenicity376372763RCV001118659|RCV001118661|RCV001118660|RCV001118662|RCV001118657|RCV001118658|RCV001293524|RCV001365203|RCV002491369; NMONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|M15487199044871990415:g.48719904C>T-
NM_000138.5(FBN1):c.6988G>A (p.Glu2330Lys)2200FBN1Uncertain significance1042807324RCV001115687|RCV001115686|RCV001115688|RCV001115689|RCV001115690|RCV001120600|RCV001207855|RCV002482214|RCV003145347; NMONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|15487205524872055215:g.48720552C>T-
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu)2200FBN1Benign/Likely benign363831RCV000262062|RCV000265846|RCV000296204|RCV000320863|RCV000317229|RCV000356993|RCV000371988|RCV000540583|RCV000614476|RCV001812834|RCV002494989; NMONDO:MONDO:0000127,MedGen:C3489726,OMIM:PS231050, Orphanet:2623|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963,Or154872055348720553NC_000015.9:g.48720553G>CClinGen:CA057647C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.6801C>T (p.Asn2267=)2200FBN1Conflicting interpretations of pathogenicity886051245RCV000283843|RCV000298102|RCV000338852|RCV000353034|RCV000368091|RCV000396161|RCV000398246; NMONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0000127,MedGen:C3489726,OMIM:PS231050, Orphanet:2623|M154872293848722938NC_000015.9:g.48722938G>AClinGen:CA10647086C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)2200FBN1Conflicting interpretations of pathogenicity112084407RCV000029766|RCV000035252|RCV000273547|RCV000270709|RCV000310000|RCV000659568|RCV000726908|RCV000769627|RCV001081774; NMONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MedGen:CN169374|MONDO:MONDO:0000127,MedGen:C3489726,OMIM:PS231050, Orphanet:2623|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0007055,MedGen:C02652815487251024872510215:g.48725102C>TClinGen:CA016669C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)2200FBN1Conflicting interpretations of pathogenicity363824RCV000035251|RCV000252112|RCV000267077|RCV000325710|RCV000337285|RCV000322080|RCV000380286|RCV000376729|RCV000755265|RCV001082294; NMedGen:CN169374|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:1023715487251214872512115:g.48725121T>GClinGen:CA016640C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=)2200FBN1Benign/Likely benign111844882RCV000029765|RCV000035246|RCV000252933|RCV000311471|RCV000296128|RCV000307878|RCV000347609|RCV000394388|RCV000659567|RCV000755530|RCV001531821; NMONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MedGen:CN169374|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0007055,MedGen:C0265215487268134872681315:g.48726813G>AClinGen:CA016560C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.6582G>T (p.Glu2194Asp)2200FBN1Uncertain significance2043050683RCV001117300|RCV001117299|RCV001117301|RCV001117302|RCV001117303|RCV001118922; NMONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MOND15487268254872682515:g.48726825C>A-
NM_000138.5(FBN1):c.6289G>A (p.Glu2097Lys)2200FBN1Uncertain significance397515831RCV001119020|RCV001119019|RCV001119021|RCV001119022|RCV001119023|RCV001120996|RCV001760085; NMONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|15487299894872998915:g.48729989C>T-
NM_000138.5(FBN1):c.6095C>G (p.Thr2032Ser)2200FBN1Uncertain significance756506237RCV000281039|RCV000287105|RCV000298728|RCV000338375|RCV000339654|RCV000396194|RCV000403963|RCV000470548|RCV002494990; NMONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600,Or154873398648733986NC_000015.9:g.48733986G>CClinGen:CA056223C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.5788+10C>A2200FBN1Benign/Likely benign371560107RCV000035234|RCV000282796|RCV000281938|RCV000321537|RCV000334596|RCV000373882|RCV000379530|RCV000406279|RCV000540069; NMedGen:CN169374|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:1849015487388934873889315:g.48738893G>TClinGen:CA016056C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.5724A>G (p.Thr1908=)2200FBN1Conflicting interpretations of pathogenicity141219664RCV000262510|RCV000302528|RCV000320176|RCV000333041|RCV000359544|RCV000372546|RCV000388834|RCV001496138|RCV002292524; NMONDO:MONDO:0000127,MedGen:C3489726,OMIM:PS231050, Orphanet:2623|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MO154873896748738967NC_000015.9:g.48738967T>CClinGen:CA055450C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.5405A>G (p.Lys1802Arg)2200FBN1Uncertain significance886051248RCV000271316|RCV000282726|RCV000289038|RCV000328740|RCV000341799|RCV000381198|RCV000380067; NMONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:28496154874885148748851NC_000015.9:g.48748851T>CClinGen:CA10647090C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.5304T>A (p.Asp1768Glu)2200FBN1Conflicting interpretations of pathogenicity867058901RCV001117632|RCV001117634|RCV001119220|RCV001117633|RCV001117635|RCV001117636|RCV001862899; NMONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600,Orp15487489524874895215:g.48748952A>T-
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=)2200FBN1Benign/Likely benign113115949RCV000029746|RCV000035212|RCV000251093|RCV000279110|RCV000296787|RCV000375783|RCV000396465|RCV000405306|RCV000755533|RCV001725118|RCV002276587; NMONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MedGen:CN169374|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0018096,MedGen:C0265315487578024875780215:g.48757802G>CClinGen:CA015458C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile)2200FBN1Conflicting interpretations of pathogenicity568625812RCV000296357|RCV000310061|RCV000351320|RCV000350260|RCV000375658|RCV000403503|RCV000404390|RCV001523627; NMONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0000127,MedGen:C3489726,OMIM:PS231050, Orphanet:2623|154877611348776113NC_000015.9:g.48776113T>AClinGen:CA051501C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.3712+9G>T2200FBN1Conflicting interpretations of pathogenicity769251450RCV001119495|RCV001119497|RCV001119496|RCV001119498|RCV001119493|RCV001119494|RCV001121495|RCV002069940; NMONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0000127,MedGen:C3489726,OMIM:PS231050, Orphanet:2623|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|M15487775624877756215:g.48777562C>A-
NM_000138.5(FBN1):c.3574A>G (p.Arg1192Gly)2200FBN1Uncertain significance2043513994RCV001116606|RCV001118057|RCV001118059|RCV001118058|RCV001118060|RCV001118061; NMONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,15487792874877928715:g.48779287T>C-
NM_000138.5(FBN1):c.3570C>T (p.Pro1190=)2200FBN1Likely benign188317014RCV000288996|RCV000292452|RCV000333379|RCV000318384|RCV000344315|RCV000386927|RCV000405976|RCV000459741|RCV001395710|RCV003330640; NMONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963,Or154877929148779291NC_000015.9:g.48779291G>AClinGen:CA051087C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.3464-5G>A2200FBN1Benign11853943RCV000154234|RCV000244497|RCV000272132|RCV000275773|RCV000331777|RCV000333151|RCV000329551|RCV000367794|RCV001812031|RCV001520055|RCV002277244; NMedGen:CN169374|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:10237154877940248779402NC_000015.9:g.48779402C>TClinGen:CA014167C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.3337+11G>A2200FBN1Conflicting interpretations of pathogenicity368726848RCV000314739|RCV000343941|RCV000349919|RCV000358194|RCV000395417|RCV000404829|RCV000439260|RCV000405694|RCV002056464; NMONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370,Orph154878029948780299NC_000015.9:g.48780299C>TClinGen:CA050323C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.3224G>A (p.Arg1075His)2200FBN1Uncertain significance369745372RCV001119806|RCV001119807|RCV001119808|RCV001119809|RCV001119810|RCV001119811|RCV001361472|RCV002282459; NMONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963,Orph15487804234878042315:g.48780423C>T-
NM_000138.5(FBN1):c.3069G>A (p.Lys1023=)2200FBN1Benign/Likely benign199789628RCV000277668|RCV000290661|RCV000320533|RCV000325630|RCV000342553|RCV000382699|RCV000377538|RCV000538948|RCV001579771|RCV001642986; NMONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MONDO:MONDO:0000127,MedGen:C3489726,OMIM:PS231050, Orphanet:2623|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MO154878206148782061NC_000015.9:g.48782061C>TClinGen:CA049678C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys)2200FBN1Pathogenic/Likely pathogenic397514558RCV000032871|RCV000172857|RCV000548224|RCV000726909|RCV001186221|RCV001192805; NMONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558; MONDO:MONDO:0019625,MedGen:C4707243,O15487822104878221015:g.48782210G>AClinGen:CA013513,OMIM:134797.0063CN230736 Cardiovascular phenotype;
NM_000138.5(FBN1):c.2855-9C>T2200FBN1Benign/Likely benign140590RCV000035153|RCV000273258|RCV000267449|RCV000288136|RCV000322516|RCV000327947|RCV000382543|RCV000377099|RCV000470457|RCV001701573; NMedGen:CN169374|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0000127,MedGen:C3489726,OMIM:PS231050, Orphanet:2623|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:1849015487822844878228415:g.48782284G>AClinGen:CA013474C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.2219A>G (p.Glu740Gly)2200FBN1Uncertain significance2043616665RCV001115407|RCV001120299|RCV001120298|RCV001120300|RCV001120301|RCV001120302; NMONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370,Orph15487895374878953715:g.48789537T>C-
NM_000138.5(FBN1):c.2175T>C (p.Asn725=)2200FBN1Conflicting interpretations of pathogenicity140606RCV000035132|RCV000245903|RCV000278611|RCV000292591|RCV000319536|RCV000332480|RCV000362638|RCV000373239|RCV000556783|RCV000659516|RCV001531828; NMedGen:CN169374|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0000127,MedGen:C3489715487895814878958115:g.48789581A>GClinGen:CA012841C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.2031T>A (p.Ala677=)2200FBN1Conflicting interpretations of pathogenicity762312642RCV001120099|RCV001118573|RCV001120100|RCV001120101|RCV001120102|RCV001120103; NMONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Or15487960664879606615:g.48796066A>T-
NM_000138.5(FBN1):c.1708T>C (p.Cys570Arg)2200FBN1Pathogenic113902534RCV001229193|RCV002283533|RCV002402716|RCV003398981; NMONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387; MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS60708615488022474880224715:g.48802247A>G-
NM_000138.5(FBN1):c.1708T>A (p.Cys570Ser)2200FBN1Pathogenic-1RCV002283925; NMONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:188515488022474880224748802247-
NM_000138.5(FBN1):c.1313C>G (p.Ser438Cys)2200FBN1Uncertain significance2043799037RCV001331010|RCV001863232; NMONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558; MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:9138715488083944880839448808394-
NM_000138.5(FBN1):c.1193G>A (p.Arg398Lys)2200FBN1Uncertain significance886051250RCV000265556|RCV000268990|RCV000304563|RCV000308931|RCV000359336|RCV000365915|RCV000387896|RCV002502232; NMONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0000127,MedGen:C3489726,OMIM:PS231050, Orphanet:2623|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|154880851448808514NC_000015.9:g.48808514C>TClinGen:CA10646205C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.885T>G (p.Ile295Met)2200FBN1Conflicting interpretations of pathogenicity151056963RCV000260937|RCV000300817|RCV000311219|RCV000324354|RCV000353445|RCV000358152|RCV000406479|RCV001220849|RCV001770257; NMONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370,O154881843048818430NC_000015.9:g.48818430A>CClinGen:CA060328C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.783T>C (p.Asn261=)2200FBN1Conflicting interpretations of pathogenicity113721547RCV000252306|RCV000246115|RCV000265635|RCV000295843|RCV000326369|RCV000348393|RCV000384555|RCV000387961|RCV001088054|RCV001709518; NMedGen:CN169374|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0008492,MedGen:C1861415488263564882635615:g.48826356A>GClinGen:CA059270C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)2200FBN1Pathogenic/Likely pathogenic137854480RCV000017925|RCV000017924|RCV000181681|RCV000515367|RCV000631968|RCV001170326|RCV002307365; NMONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MedGen:C3661900|8 conditions|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387; MONDO:MONDO:0007947,15488298264882982615:g.48829826G>AClinGen:CA017067,OMIM:134797.0042C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.673C>G (p.Pro225Ala)2200FBN1Uncertain significance2044025163RCV001115774|RCV001115775|RCV001120690|RCV001120692|RCV001120691|RCV001120693; NMONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,15488298714882987115:g.48829871G>C-
NM_000138.5(FBN1):c.538+4A>G2200FBN1Conflicting interpretations of pathogenicity375721252RCV000286081|RCV000282551|RCV000331838|RCV000335275|RCV000339135|RCV000373450|RCV000393946|RCV000421497|RCV000467366|RCV001579785|RCV002278422; NMONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Or154888847648888476NC_000015.9:g.48888476T>CClinGen:CA054803C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.443-15C>A2200FBN1Uncertain significance2044516377RCV001118834|RCV001120792|RCV001118833|RCV001120793|RCV001120794|RCV001120795; NMONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MOND15488885904888859015:g.48888590G>T-
NM_000138.5(FBN1):c.306C>T (p.Cys102=)2200FBN1Benign/Likely benign25388RCV000154417|RCV000253616|RCV000293746|RCV000313423|RCV000347453|RCV000348609|RCV000407439|RCV000382318|RCV000659501|RCV000756133|RCV001725986; NMedGen:CN169374|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:18490154890296548902965NC_000015.9:g.48902965G>AClinGen:CA013747C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.223C>T (p.Pro75Ser)2200FBN1Uncertain significance886051252RCV000265294|RCV000300622|RCV000320428|RCV000355433|RCV000354296|RCV000360782|RCV000402469; NMONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963,154890523148905231NC_000015.9:g.48905231G>AClinGen:CA10642094C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.91G>A (p.Ala31Thr)2200FBN1Conflicting interpretations of pathogenicity371130701RCV001115964|RCV001115965|RCV001115966|RCV001115967|RCV001115968|RCV001120892|RCV001120891|RCV001856524; NMONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600,Orpha15489368764893687615:g.48936876C>T-
NM_000138.5(FBN1):c.-70C>A2200FBN1Uncertain significance886051253RCV000283355|RCV000281995|RCV000337060|RCV000342993|RCV000371839|RCV000377690|RCV000391571; NMONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600154893703648937036NC_000015.9:g.48937036G>TClinGen:CA10647093C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.-123C>A2200FBN1Uncertain significance1004900313RCV001116081|RCV001116082|RCV001117523|RCV001117520|RCV001117521|RCV001117522; NMONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370,Orph15489370894893708915:g.48937089G>T-
NM_000138.5(FBN1):c.-136G>C2200FBN1Uncertain significance879283668RCV000291944|RCV000299142|RCV000311576|RCV000352343|RCV000354041|RCV000401647|RCV000406680; NMONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|15489371024893710215:g.48937102C>GClinGen:CA10636163C0265287 102370 Acromicric dysplasia;
NM_000138.5(FBN1):c.-176A>T2200FBN1Conflicting interpretations of pathogenicity560004254RCV000124992|RCV000268782|RCV000264869|RCV000300292|RCV000324750|RCV000328495|RCV000359548|RCV000360793; NMedGen:CN169374|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0000127,MedGen:C3489726,OMIM:PS231050, Orphanet:2623|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700,Or154893714248937142NC_000015.9:g.48937142T>AClinGen:CA012556C0265287 102370 Acromicric dysplasia;
NM_000138.4(FBN1):c.-400A>T2200FBN1Uncertain significance1890299170RCV001116196|RCV001116195|RCV001117637|RCV001117638|RCV001117639|RCV001117640; NMONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963,O15489379904893799015:g.48937990T>A-
NM_000428.3(LTBP2):c.1553G>T (p.Ser518Ile)4053LTBP2Benign/Likely benign137854857RCV000114807|RCV000954982|RCV001116267|RCV001116268|RCV001795158; NMONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|MedGen:C3661900|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086, Orphanet:98976|MedGen:CN16937414750179007501790014:g.75017900C>AClinGen:CA281451C1851286 129600 Ectopia lentis, isolated, autosomal dominant;
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