Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_000138.5(FBN1):c.*2592T>C | 2200 | FBN1 | Uncertain significance | 752936528 | RCV001120499|RCV001120501|RCV001120500|RCV001120502|RCV001120503|RCV001120504; | N | 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, Orphanet:1885|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900,Or | 15 | 48700595 | 48700595 | | | 15:g.48700595A>G | - | | |
NM_000138.5(FBN1):c.*2556G>A | 2200 | FBN1 | Uncertain significance | 886051221 | RCV000268818|RCV000274528|RCV000315490|RCV000327389|RCV000355135|RCV000365643|RCV000366847; | N | MONDO: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|MON | 15 | 48700631 | 48700631 | | | NC_000015.9:g.48700631C>T | ClinGen:CA10647063 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.*2524A>G | 2200 | FBN1 | Benign/Likely benign | 75372203 | RCV000351282|RCV000279786|RCV000363823|RCV000364877|RCV000312531|RCV001785561|RCV000405503|RCV000404742; | N | 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|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963 | 15 | 48700663 | 48700663 | | | NC_000015.9:g.48700663T>C | ClinGen:CA10646149 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.*2398G>T | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 377530465 | RCV000261507|RCV000262543|RCV000353786|RCV000359661|RCV000341826|RCV000302246|RCV000403235; | N | MONDO: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,Orpha | 15 | 48700789 | 48700789 | | | NC_000015.9:g.48700789C>A | ClinGen:CA10642073 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.*2395G>A | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 184719603 | RCV000287516|RCV000274471|RCV000327277|RCV000333103|RCV000378503|RCV000344869|RCV000384154; | N | MONDO: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,Or | 15 | 48700792 | 48700792 | | | NC_000015.9:g.48700792C>T | ClinGen:CA10636118 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.*2221A>G | 2200 | FBN1 | Uncertain significance | 886051226 | RCV000278075|RCV000286835|RCV000293725|RCV000323068|RCV000372615|RCV000376601|RCV000392467; | N | 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:129600, Orphanet:1885|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900,O | 15 | 48700966 | 48700966 | | | 15:g.48700966T>C | ClinGen:CA10642077 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.*2158G>A | 2200 | FBN1 | Benign | 11070641 | RCV000264532|RCV000359463|RCV000362911|RCV000309412|RCV000313560|RCV000406604|RCV000402950|RCV001597076; | N | 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|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885|M | 15 | 48701029 | 48701029 | | | 15:g.48701029C>T | ClinGen:CA10642078 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.*2114T>A | 2200 | FBN1 | Uncertain significance | 886051227 | RCV000287436|RCV000296668|RCV000303730|RCV000347116|RCV000351700|RCV000358503|RCV000392812; | N | MONDO: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| | 15 | 48701073 | 48701073 | | | 15:g.48701073A>T | ClinGen:CA10636120 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.*2091G>A | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 575922741 | RCV000319804|RCV000354953|RCV000356041|RCV000330197|RCV000275353|RCV000304791|RCV000403277|RCV003391137; | N | MONDO: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,O | 15 | 48701096 | 48701096 | | | 15:g.48701096C>T | ClinGen:CA10647076 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.*2044C>T | 2200 | FBN1 | Uncertain significance | 561911965 | RCV001117200|RCV001115772|RCV001115773|RCV001117201|RCV001117202|RCV001117203; | N | MONDO: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| | 15 | 48701143 | 48701143 | | | 15:g.48701143G>A | - | | |
NM_000138.5(FBN1):c.*2040T>C | 2200 | FBN1 | Benign | 73390272 | RCV000312550|RCV000297405|RCV000367193|RCV000337771|RCV000341696|RCV000393126|RCV000404349|RCV001597077; | N | 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|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900, Orphanet:2833|MON | 15 | 48701147 | 48701147 | | | 15:g.48701147A>G | ClinGen:CA10636122 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.*1959G>A | 2200 | FBN1 | Benign | 12050562 | RCV000267364|RCV000324776|RCV000359699|RCV000302654|RCV000308516|RCV000390902|RCV000405917|RCV001613015; | N | 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, Orphanet:91387|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|M | 15 | 48701228 | 48701228 | | | NC_000015.9:g.48701228C>T | ClinGen:CA10636124 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.*1706C>A | 2200 | FBN1 | Uncertain significance | 770825180 | RCV000266293|RCV000271046|RCV000278958|RCV000328431|RCV000364319|RCV000377181|RCV000380579; | N | MONDO: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|MO | 15 | 48701481 | 48701481 | | | NC_000015.9:g.48701481G>T | ClinGen:CA10646162 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.*1619T>A | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 374297351 | RCV000261642|RCV000287964|RCV000319132|RCV000345094|RCV000351126|RCV000385314|RCV000389250; | N | 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:184900, Orphanet:2833| | 15 | 48701568 | 48701568 | | | NC_000015.9:g.48701568A>T | ClinGen:CA10642081 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.*1580G>A | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 17352989 | RCV000291314|RCV000304567|RCV000298828|RCV000339349|RCV000392600|RCV000390840|RCV000392595|RCV002262989; | N | MONDO: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:188 | 15 | 48701607 | 48701607 | | | NC_000015.9:g.48701607C>T | ClinGen:CA10636134 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.*1575T>G | 2200 | FBN1 | Benign | 4775760 | RCV000356014|RCV000334072|RCV000294620|RCV000276624|RCV000330398|RCV000381682|RCV000368857|RCV001718649; | N | MONDO: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|M | 15 | 48701612 | 48701612 | | | NC_000015.9:g.48701612A>C | ClinGen:CA10647077 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.*1398G>C | 2200 | FBN1 | Uncertain significance | 886051234 | RCV000263239|RCV000264723|RCV000268174|RCV000299626|RCV000323148|RCV000367086|RCV000377838; | N | MONDO: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,O | 15 | 48701789 | 48701789 | | | NC_000015.9:g.48701789C>G | ClinGen:CA10646170 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.*1375A>C | 2200 | FBN1 | Uncertain significance | 1049315076 | RCV001121092|RCV001121094|RCV001121093|RCV001121095|RCV001121096|RCV001121097; | N | 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, Orphanet:558|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Or | 15 | 48701812 | 48701812 | | | 15:g.48701812T>G | - | | |
NM_000138.5(FBN1):c.*1341C>T | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 766719764 | RCV001116190|RCV001116191|RCV001117626|RCV001117627|RCV001117628|RCV001117629|RCV002292607; | N | 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:184900, Orphanet:2833| | 15 | 48701846 | 48701846 | | | 15:g.48701846G>A | - | | |
NM_000138.5(FBN1):c.*1325T>C | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 569152308 | RCV000269334|RCV000273266|RCV000293993|RCV000328336|RCV000330382|RCV000382883|RCV000388211; | N | MONDO: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,Or | 15 | 48701862 | 48701862 | | | NC_000015.9:g.48701862A>G | ClinGen:CA10642086 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.*1298C>G | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 143446014 | RCV000281194|RCV000285339|RCV000336286|RCV000375598|RCV000340264|RCV000309827|RCV000390296|RCV002262990; | N | 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:284963, Orphanet:558|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370,O | 15 | 48701889 | 48701889 | | | NC_000015.9:g.48701889G>C | ClinGen:CA10646174 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.*1252A>G | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 566419089 | RCV000263318|RCV000331274|RCV000276179|RCV000370706|RCV000364551|RCV000306316|RCV000407560|RCV002262991; | N | MONDO: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,Orp | 15 | 48701935 | 48701935 | | | NC_000015.9:g.48701935T>C | ClinGen:CA10647078 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.*1249A>G | 2200 | FBN1 | Uncertain significance | 1456413075 | RCV001116296|RCV001116298|RCV001116297|RCV001116299|RCV001116300|RCV001116301; | N | MONDO: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,O | 15 | 48701938 | 48701938 | | | 15:g.48701938T>C | - | | |
NM_000138.5(FBN1):c.*1245C>T | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 181099623 | RCV000318453|RCV000284615|RCV000278523|RCV000339596|RCV000373063|RCV000379062|RCV000399830; | N | 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|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|M | 15 | 48701942 | 48701942 | | | NC_000015.9:g.48701942G>A | ClinGen:CA10647080 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.*1228T>C | 2200 | FBN1 | Benign/Likely benign | 372333234 | RCV000313497|RCV000355296|RCV000290559|RCV000370471|RCV000345563|RCV000402058|RCV000407922; | N | 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, Orphanet:969|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600,Orp | 15 | 48701959 | 48701959 | | | NC_000015.9:g.48701959A>G | ClinGen:CA10646178 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.*1201T>G | 2200 | FBN1 | Uncertain significance | 574181586 | RCV001119295|RCV001119294|RCV001119292|RCV001119293|RCV001121311|RCV001121312; | N | MONDO: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,Orp | 15 | 48701986 | 48701986 | | | 15:g.48701986A>C | - | | |
NM_000138.5(FBN1):c.*1122C>T | 2200 | FBN1 | Uncertain significance | 2042846511 | RCV001121317|RCV001121316|RCV001121318|RCV001121313|RCV001121314|RCV001121315; | N | 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, Orphanet:91387|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900,O | 15 | 48702065 | 48702065 | | | 15:g.48702065G>A | - | | |
NM_000138.5(FBN1):c.*1084T>C | 2200 | FBN1 | Benign | 3803350 | RCV000315715|RCV000262768|RCV000268512|RCV000271895|RCV000321291|RCV000354136|RCV000329569; | N | 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, Orphanet:2623|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600,Orp | 15 | 48702103 | 48702103 | | | NC_000015.9:g.48702103A>G | ClinGen:CA10636135 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.*968G>A | 2200 | FBN1 | Uncertain significance | 999275120 | RCV001117848|RCV001116397|RCV001117844|RCV001117845|RCV001117846|RCV001117847; | N | 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, Orphanet:1885|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MON | 15 | 48702219 | 48702219 | | | 15:g.48702219C>T | - | | |
NM_000138.5(FBN1):c.*967C>T | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 56024388 | RCV000293685|RCV000275807|RCV000336915|RCV000333566|RCV000381977|RCV000385769|RCV000375442; | N | 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, Orphanet:2833|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Or | 15 | 48702220 | 48702220 | | | NC_000015.9:g.48702220G>A | ClinGen:CA10647082 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.*948G>T | 2200 | FBN1 | Uncertain significance | 749224599 | RCV000262978|RCV000270222|RCV000273589|RCV000313568|RCV000315639|RCV000355355|RCV000370556; | N | 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, Orphanet:284963, Orphanet:558|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370,Or | 15 | 48702239 | 48702239 | | | NC_000015.9:g.48702239C>A | ClinGen:CA10636140 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.*867G>T | 2200 | FBN1 | Benign/Likely benign | 189749406 | RCV000260214|RCV000299863|RCV000315498|RCV000345881|RCV000357081|RCV000367382|RCV000398682|RCV001712027; | N | 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|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449|M | 15 | 48702320 | 48702320 | | | NC_000015.9:g.48702320C>A | ClinGen:CA10646184 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.*845C>T | 2200 | FBN1 | Uncertain significance | 1022238055 | RCV001116503|RCV001116504|RCV001116499|RCV001116500|RCV001116501|RCV001116502; | N | 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|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963,O | 15 | 48702342 | 48702342 | | | 15:g.48702342G>A | - | | |
NM_000138.5(FBN1):c.*779C>T | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 113200355 | RCV001116505|RCV001117950|RCV001117949|RCV001117945|RCV001117946|RCV001117947|RCV001117948; | N | MONDO: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,Or | 15 | 48702408 | 48702408 | | | 15:g.48702408G>A | - | | |
NM_000138.5(FBN1):c.*730G>T | 2200 | FBN1 | Benign | 13598 | RCV000294541|RCV000297172|RCV000293740|RCV000336986|RCV000354587|RCV000394077|RCV000401006|RCV001718650; | N | 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,OMIM:PS231050,Orp | 15 | 48702457 | 48702457 | | | NC_000015.9:g.48702457C>A | ClinGen:CA10636144 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.*724A>C | 2200 | FBN1 | Uncertain significance | 886051239 | RCV000265727|RCV000272634|RCV000309194|RCV000327670|RCV000358030|RCV000366243|RCV000390863; | N | MONDO: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|M | 15 | 48702463 | 48702463 | | | 15:g.48702463T>G | ClinGen:CA10646185 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.*399C>A | 2200 | FBN1 | Uncertain significance | 2042852375 | RCV001118050|RCV001118052|RCV001118049|RCV001118051|RCV001118053|RCV001118054; | N | 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, Orphanet:1885|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963,Orph | 15 | 48702788 | 48702788 | | | 15:g.48702788G>T | - | | |
NM_000138.5(FBN1):c.*314C>T | 2200 | FBN1 | Benign | 1042078 | RCV000275580|RCV000305212|RCV000310625|RCV000340144|RCV000365337|RCV000399351|RCV000401289|RCV001653551; | N | MONDO: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|M | 15 | 48702873 | 48702873 | | | 15:g.48702873G>A | ClinGen:CA10646191 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.*253A>T | 2200 | FBN1 | Uncertain significance | 539383558 | RCV001121688|RCV001121689|RCV001121690|RCV001121691|RCV001121692|RCV001121693; | N | 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, Orphanet:91387|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600 | 15 | 48702934 | 48702934 | | | 15:g.48702934T>A | - | | |
NM_000138.5(FBN1):c.*252G>A | 2200 | FBN1 | Uncertain significance | 1407193739 | RCV001116821|RCV001116823|RCV001116822|RCV001116819|RCV001116820|RCV001121694; | N | 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, Orphanet:91387|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:28496 | 15 | 48702935 | 48702935 | | | 15:g.48702935C>T | - | | |
NM_000138.5(FBN1):c.*107A>G | 2200 | FBN1 | Uncertain significance | 562749473 | RCV001118278|RCV001118279|RCV001118280|RCV001118281|RCV001118282|RCV001119803; | N | MONDO: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,Orpha | 15 | 48703080 | 48703080 | | | 15:g.48703080T>C | - | | |
NM_000138.5(FBN1):c.*43A>T | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 144710695 | RCV001121791|RCV001121792|RCV001121794|RCV001121796|RCV001121797|RCV001121793|RCV001121795; | N | 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, Orphanet:3449|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600,Or | 15 | 48703144 | 48703144 | | | 15:g.48703144T>A | - | | |
NM_000138.5(FBN1):c.8356A>G (p.Thr2786Ala) | 2200 | FBN1 | Uncertain significance | 781352764 | RCV000817044|RCV001118378|RCV001119912|RCV001118379|RCV001118380|RCV001118377|RCV001119911; | N | 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:C1861456,OMIM:184900,O | 15 | 48703447 | 48703447 | | | 15:g.48703447T>C | - | | |
NM_000138.5(FBN1):c.8202C>T (p.Asn2734=) | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 113904256 | RCV000263983|RCV000299351|RCV000321428|RCV000314721|RCV000353296|RCV000356562|RCV000378614|RCV000868868|RCV001718651; | N | 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, Orphanet:1885|MONDO:MONDO:0000127,MedGen:C3489726,OMIM:PS231050,Or | 15 | 48704790 | 48704790 | | | NC_000015.9:g.48704790G>A | ClinGen:CA059755 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.8138A>G (p.Glu2713Gly) | 2200 | FBN1 | Uncertain significance | 1555393658 | RCV000662145|RCV000662146|RCV000662147|RCV000662148|RCV000662144|RCV000662149; | N | MONDO: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: | 15 | 48704854 | 48704854 | | | NC_000015.9:g.48704854T>C | - | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.8014T>G (p.Cys2672Gly) | 2200 | FBN1 | Likely pathogenic | 1555393833 | RCV000632014|RCV001535542|RCV002314297; | N | MONDO: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, | 15 | 48707770 | 48707770 | | | NC_000015.9:g.48707770A>C | ClinGen:CA392322650 | CN230736 Cardiovascular phenotype; | |
NM_000138.5(FBN1):c.8011C>T (p.Leu2671=) | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 886051244 | RCV000276241|RCV000311417|RCV000333625|RCV000353238|RCV000363876|RCV000368473|RCV000400012; | N | 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, Orphanet:1885|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, | 15 | 48707773 | 48707773 | | | NC_000015.9:g.48707773G>A | ClinGen:CA10646196 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.7820-4G>A | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 750036723 | RCV000603775|RCV001120092|RCV001120093|RCV001120094|RCV001120095|RCV001120096|RCV001120098|RCV001120097; | N | MedGen: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,O | 15 | 48707968 | 48707968 | | | 15:g.48707968C>T | ClinGen:CA059248 | CN169374 not specified; | |
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln) | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 199522781 | RCV000290065|RCV000297567|RCV000313030|RCV000347326|RCV000382117|RCV000396029|RCV000400646|RCV000454621|RCV000766961|RCV001081111; | N | 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:0007947,MedGen:C0024796,OMIM:154700, Orphanet:28496 | 15 | 48713793 | 48713793 | | | NC_000015.9:g.48713793C>T | ClinGen:CA058980 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.7554C>A (p.His2518Gln) | 2200 | FBN1 | Uncertain significance | 2042946233 | RCV001116923|RCV001116924|RCV001116925|RCV001116926|RCV001116927|RCV001120203; | N | 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:0008492,MedGen:C1861456,OMIM:184900,Orpha | 15 | 48714165 | 48714165 | | | 15:g.48714165G>T | - | | |
NM_000138.5(FBN1):c.7360C>A (p.Pro2454Thr) | 2200 | FBN1 | Uncertain significance | 1166405014 | RCV001053236|RCV001115596|RCV001115597|RCV001115598|RCV001115599|RCV001115600|RCV001120505|RCV001547246; | N | 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:C1861456,OMIM:184900,O | 15 | 48717659 | 48717659 | | | 15:g.48717659G>T | - | | |
NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys) | 2200 | FBN1 | Pathogenic/Likely pathogenic | 137854464 | RCV000017899|RCV000417099|RCV000422790|RCV000695313|RCV000844887|RCV002381253; | N | MONDO: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:C00247 | 15 | 48717680 | 48717680 | | | 15:g.48717680C>T | ClinGen:CA017155,OMIM:134797.0015 | C1851286 129600 Ectopia lentis, isolated, autosomal dominant; | |
NM_000138.5(FBN1):c.7098C>T (p.Asp2366=) | 2200 | FBN1 | Benign/Likely benign | 1005074 | RCV000181409|RCV000253159|RCV000292041|RCV000295681|RCV000334322|RCV000326972|RCV000383922|RCV000394600|RCV000755262|RCV001812166; | N | MedGen: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:18490 | 15 | 48719870 | 48719870 | | | NC_000015.9:g.48719870G>A | ClinGen:CA017012 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys) | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 376372763 | RCV001118659|RCV001118661|RCV001118660|RCV001118662|RCV001118657|RCV001118658|RCV001293524|RCV001365203|RCV002491369; | N | MONDO: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|M | 15 | 48719904 | 48719904 | | | 15:g.48719904C>T | - | | |
NM_000138.5(FBN1):c.6988G>A (p.Glu2330Lys) | 2200 | FBN1 | Uncertain significance | 1042807324 | RCV001115687|RCV001115686|RCV001115688|RCV001115689|RCV001115690|RCV001120600|RCV001207855|RCV002482214|RCV003145347; | N | 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|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449| | 15 | 48720552 | 48720552 | | | 15:g.48720552C>T | - | | |
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu) | 2200 | FBN1 | Benign/Likely benign | 363831 | RCV000262062|RCV000265846|RCV000296204|RCV000320863|RCV000317229|RCV000356993|RCV000371988|RCV000540583|RCV000614476|RCV001812834|RCV002494989; | N | MONDO: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,Or | 15 | 48720553 | 48720553 | | | NC_000015.9:g.48720553G>C | ClinGen:CA057647 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.6801C>T (p.Asn2267=) | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 886051245 | RCV000283843|RCV000298102|RCV000338852|RCV000353034|RCV000368091|RCV000396161|RCV000398246; | N | MONDO: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|M | 15 | 48722938 | 48722938 | | | NC_000015.9:g.48722938G>A | ClinGen:CA10647086 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 112084407 | RCV000029766|RCV000035252|RCV000273547|RCV000270709|RCV000310000|RCV000659568|RCV000726908|RCV000769627|RCV001081774; | N | MONDO: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:C026528 | 15 | 48725102 | 48725102 | | | 15:g.48725102C>T | ClinGen:CA016669 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 363824 | RCV000035251|RCV000252112|RCV000267077|RCV000325710|RCV000337285|RCV000322080|RCV000380286|RCV000376729|RCV000755265|RCV001082294; | N | MedGen: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:10237 | 15 | 48725121 | 48725121 | | | 15:g.48725121T>G | ClinGen:CA016640 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=) | 2200 | FBN1 | Benign/Likely benign | 111844882 | RCV000029765|RCV000035246|RCV000252933|RCV000311471|RCV000296128|RCV000307878|RCV000347609|RCV000394388|RCV000659567|RCV000755530|RCV001531821; | N | MONDO: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:C02652 | 15 | 48726813 | 48726813 | | | 15:g.48726813G>A | ClinGen:CA016560 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.6582G>T (p.Glu2194Asp) | 2200 | FBN1 | Uncertain significance | 2043050683 | RCV001117300|RCV001117299|RCV001117301|RCV001117302|RCV001117303|RCV001118922; | N | 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|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370, Orphanet:969|MOND | 15 | 48726825 | 48726825 | | | 15:g.48726825C>A | - | | |
NM_000138.5(FBN1):c.6289G>A (p.Glu2097Lys) | 2200 | FBN1 | Uncertain significance | 397515831 | RCV001119020|RCV001119019|RCV001119021|RCV001119022|RCV001119023|RCV001120996|RCV001760085; | N | MONDO: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| | 15 | 48729989 | 48729989 | | | 15:g.48729989C>T | - | | |
NM_000138.5(FBN1):c.6095C>G (p.Thr2032Ser) | 2200 | FBN1 | Uncertain significance | 756506237 | RCV000281039|RCV000287105|RCV000298728|RCV000338375|RCV000339654|RCV000396194|RCV000403963|RCV000470548|RCV002494990; | N | 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, Orphanet:3449|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600,Or | 15 | 48733986 | 48733986 | | | NC_000015.9:g.48733986G>C | ClinGen:CA056223 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.5788+10C>A | 2200 | FBN1 | Benign/Likely benign | 371560107 | RCV000035234|RCV000282796|RCV000281938|RCV000321537|RCV000334596|RCV000373882|RCV000379530|RCV000406279|RCV000540069; | N | MedGen: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:18490 | 15 | 48738893 | 48738893 | | | 15:g.48738893G>T | ClinGen:CA016056 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.5724A>G (p.Thr1908=) | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 141219664 | RCV000262510|RCV000302528|RCV000320176|RCV000333041|RCV000359544|RCV000372546|RCV000388834|RCV001496138|RCV002292524; | N | MONDO: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|MO | 15 | 48738967 | 48738967 | | | NC_000015.9:g.48738967T>C | ClinGen:CA055450 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.5405A>G (p.Lys1802Arg) | 2200 | FBN1 | Uncertain significance | 886051248 | RCV000271316|RCV000282726|RCV000289038|RCV000328740|RCV000341799|RCV000381198|RCV000380067; | N | 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|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:28496 | 15 | 48748851 | 48748851 | | | NC_000015.9:g.48748851T>C | ClinGen:CA10647090 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.5304T>A (p.Asp1768Glu) | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 867058901 | RCV001117632|RCV001117634|RCV001119220|RCV001117633|RCV001117635|RCV001117636|RCV001862899; | N | 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, Orphanet:558|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600,Orp | 15 | 48748952 | 48748952 | | | 15:g.48748952A>T | - | | |
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=) | 2200 | FBN1 | Benign/Likely benign | 113115949 | RCV000029746|RCV000035212|RCV000251093|RCV000279110|RCV000296787|RCV000375783|RCV000396465|RCV000405306|RCV000755533|RCV001725118|RCV002276587; | N | MONDO: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:C02653 | 15 | 48757802 | 48757802 | | | 15:g.48757802G>C | ClinGen:CA015458 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile) | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 568625812 | RCV000296357|RCV000310061|RCV000351320|RCV000350260|RCV000375658|RCV000403503|RCV000404390|RCV001523627; | N | 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, Orphanet:2833|MONDO:MONDO:0000127,MedGen:C3489726,OMIM:PS231050, Orphanet:2623| | 15 | 48776113 | 48776113 | | | NC_000015.9:g.48776113T>A | ClinGen:CA051501 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.3712+9G>T | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 769251450 | RCV001119495|RCV001119497|RCV001119496|RCV001119498|RCV001119493|RCV001119494|RCV001121495|RCV002069940; | N | MONDO: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|M | 15 | 48777562 | 48777562 | | | 15:g.48777562C>A | - | | |
NM_000138.5(FBN1):c.3574A>G (p.Arg1192Gly) | 2200 | FBN1 | Uncertain significance | 2043513994 | RCV001116606|RCV001118057|RCV001118059|RCV001118058|RCV001118060|RCV001118061; | N | 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, Orphanet:1885|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, | 15 | 48779287 | 48779287 | | | 15:g.48779287T>C | - | | |
NM_000138.5(FBN1):c.3570C>T (p.Pro1190=) | 2200 | FBN1 | Likely benign | 188317014 | RCV000288996|RCV000292452|RCV000333379|RCV000318384|RCV000344315|RCV000386927|RCV000405976|RCV000459741|RCV001395710|RCV003330640; | N | MONDO: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,Or | 15 | 48779291 | 48779291 | | | NC_000015.9:g.48779291G>A | ClinGen:CA051087 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.3464-5G>A | 2200 | FBN1 | Benign | 11853943 | RCV000154234|RCV000244497|RCV000272132|RCV000275773|RCV000331777|RCV000333151|RCV000329551|RCV000367794|RCV001812031|RCV001520055|RCV002277244; | N | MedGen: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:10237 | 15 | 48779402 | 48779402 | | | NC_000015.9:g.48779402C>T | ClinGen:CA014167 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.3337+11G>A | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 368726848 | RCV000314739|RCV000343941|RCV000349919|RCV000358194|RCV000395417|RCV000404829|RCV000439260|RCV000405694|RCV002056464; | N | MONDO: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,Orph | 15 | 48780299 | 48780299 | | | NC_000015.9:g.48780299C>T | ClinGen:CA050323 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.3224G>A (p.Arg1075His) | 2200 | FBN1 | Uncertain significance | 369745372 | RCV001119806|RCV001119807|RCV001119808|RCV001119809|RCV001119810|RCV001119811|RCV001361472|RCV002282459; | N | MONDO: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,Orph | 15 | 48780423 | 48780423 | | | 15:g.48780423C>T | - | | |
NM_000138.5(FBN1):c.3069G>A (p.Lys1023=) | 2200 | FBN1 | Benign/Likely benign | 199789628 | RCV000277668|RCV000290661|RCV000320533|RCV000325630|RCV000342553|RCV000382699|RCV000377538|RCV000538948|RCV001579771|RCV001642986; | N | MONDO: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|MO | 15 | 48782061 | 48782061 | | | NC_000015.9:g.48782061C>T | ClinGen:CA049678 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys) | 2200 | FBN1 | Pathogenic/Likely pathogenic | 397514558 | RCV000032871|RCV000172857|RCV000548224|RCV000726909|RCV001186221|RCV001192805; | N | MONDO: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,O | 15 | 48782210 | 48782210 | | | 15:g.48782210G>A | ClinGen:CA013513,OMIM:134797.0063 | CN230736 Cardiovascular phenotype; | |
NM_000138.5(FBN1):c.2855-9C>T | 2200 | FBN1 | Benign/Likely benign | 140590 | RCV000035153|RCV000273258|RCV000267449|RCV000288136|RCV000322516|RCV000327947|RCV000382543|RCV000377099|RCV000470457|RCV001701573; | N | MedGen: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:18490 | 15 | 48782284 | 48782284 | | | 15:g.48782284G>A | ClinGen:CA013474 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.2219A>G (p.Glu740Gly) | 2200 | FBN1 | Uncertain significance | 2043616665 | RCV001115407|RCV001120299|RCV001120298|RCV001120300|RCV001120301|RCV001120302; | N | 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, Orphanet:1885|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370,Orph | 15 | 48789537 | 48789537 | | | 15:g.48789537T>C | - | | |
NM_000138.5(FBN1):c.2175T>C (p.Asn725=) | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 140606 | RCV000035132|RCV000245903|RCV000278611|RCV000292591|RCV000319536|RCV000332480|RCV000362638|RCV000373239|RCV000556783|RCV000659516|RCV001531828; | N | MedGen: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:C34897 | 15 | 48789581 | 48789581 | | | 15:g.48789581A>G | ClinGen:CA012841 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.2031T>A (p.Ala677=) | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 762312642 | RCV001120099|RCV001118573|RCV001120100|RCV001120101|RCV001120102|RCV001120103; | N | 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, Orphanet:1885|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Or | 15 | 48796066 | 48796066 | | | 15:g.48796066A>T | - | | |
NM_000138.5(FBN1):c.1708T>C (p.Cys570Arg) | 2200 | FBN1 | Pathogenic | 113902534 | RCV001229193|RCV002283533|RCV002402716|RCV003398981; | N | 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:0019625,MedGen:C4707243,OMIM:PS607086 | 15 | 48802247 | 48802247 | | | 15:g.48802247A>G | - | | |
NM_000138.5(FBN1):c.1708T>A (p.Cys570Ser) | 2200 | FBN1 | Pathogenic | -1 | RCV002283925; | N | MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600, Orphanet:1885 | 15 | 48802247 | 48802247 | | | 48802247 | - | | |
NM_000138.5(FBN1):c.1313C>G (p.Ser438Cys) | 2200 | FBN1 | Uncertain significance | 2043799037 | RCV001331010|RCV001863232; | N | 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, Orphanet:91387 | 15 | 48808394 | 48808394 | | | 48808394 | - | | |
NM_000138.5(FBN1):c.1193G>A (p.Arg398Lys) | 2200 | FBN1 | Uncertain significance | 886051250 | RCV000265556|RCV000268990|RCV000304563|RCV000308931|RCV000359336|RCV000365915|RCV000387896|RCV002502232; | N | MONDO: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| | 15 | 48808514 | 48808514 | | | NC_000015.9:g.48808514C>T | ClinGen:CA10646205 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.885T>G (p.Ile295Met) | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 151056963 | RCV000260937|RCV000300817|RCV000311219|RCV000324354|RCV000353445|RCV000358152|RCV000406479|RCV001220849|RCV001770257; | N | 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, Orphanet:91387|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370,O | 15 | 48818430 | 48818430 | | | NC_000015.9:g.48818430A>C | ClinGen:CA060328 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.783T>C (p.Asn261=) | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 113721547 | RCV000252306|RCV000246115|RCV000265635|RCV000295843|RCV000326369|RCV000348393|RCV000384555|RCV000387961|RCV001088054|RCV001709518; | N | MedGen: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:C18614 | 15 | 48826356 | 48826356 | | | 15:g.48826356A>G | ClinGen:CA059270 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) | 2200 | FBN1 | Pathogenic/Likely pathogenic | 137854480 | RCV000017925|RCV000017924|RCV000181681|RCV000515367|RCV000631968|RCV001170326|RCV002307365; | N | MONDO: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, | 15 | 48829826 | 48829826 | | | 15:g.48829826G>A | ClinGen:CA017067,OMIM:134797.0042 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.673C>G (p.Pro225Ala) | 2200 | FBN1 | Uncertain significance | 2044025163 | RCV001115774|RCV001115775|RCV001120690|RCV001120692|RCV001120691|RCV001120693; | N | 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:284963, Orphanet:558|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, | 15 | 48829871 | 48829871 | | | 15:g.48829871G>C | - | | |
NM_000138.5(FBN1):c.538+4A>G | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 375721252 | RCV000286081|RCV000282551|RCV000331838|RCV000335275|RCV000339135|RCV000373450|RCV000393946|RCV000421497|RCV000467366|RCV001579785|RCV002278422; | N | MONDO: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,Or | 15 | 48888476 | 48888476 | | | NC_000015.9:g.48888476T>C | ClinGen:CA054803 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.443-15C>A | 2200 | FBN1 | Uncertain significance | 2044516377 | RCV001118834|RCV001120792|RCV001118833|RCV001120793|RCV001120794|RCV001120795; | N | MONDO: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|MOND | 15 | 48888590 | 48888590 | | | 15:g.48888590G>T | - | | |
NM_000138.5(FBN1):c.306C>T (p.Cys102=) | 2200 | FBN1 | Benign/Likely benign | 25388 | RCV000154417|RCV000253616|RCV000293746|RCV000313423|RCV000347453|RCV000348609|RCV000407439|RCV000382318|RCV000659501|RCV000756133|RCV001725986; | N | MedGen: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:18490 | 15 | 48902965 | 48902965 | | | NC_000015.9:g.48902965G>A | ClinGen:CA013747 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.223C>T (p.Pro75Ser) | 2200 | FBN1 | Uncertain significance | 886051252 | RCV000265294|RCV000300622|RCV000320428|RCV000355433|RCV000354296|RCV000360782|RCV000402469; | N | 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|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, | 15 | 48905231 | 48905231 | | | NC_000015.9:g.48905231G>A | ClinGen:CA10642094 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.91G>A (p.Ala31Thr) | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 371130701 | RCV001115964|RCV001115965|RCV001115966|RCV001115967|RCV001115968|RCV001120892|RCV001120891|RCV001856524; | N | MONDO: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,Orpha | 15 | 48936876 | 48936876 | | | 15:g.48936876C>T | - | | |
NM_000138.5(FBN1):c.-70C>A | 2200 | FBN1 | Uncertain significance | 886051253 | RCV000283355|RCV000281995|RCV000337060|RCV000342993|RCV000371839|RCV000377690|RCV000391571; | N | 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, Orphanet:91387|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600 | 15 | 48937036 | 48937036 | | | NC_000015.9:g.48937036G>T | ClinGen:CA10647093 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.-123C>A | 2200 | FBN1 | Uncertain significance | 1004900313 | RCV001116081|RCV001116082|RCV001117523|RCV001117520|RCV001117521|RCV001117522; | N | 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, Orphanet:558|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370,Orph | 15 | 48937089 | 48937089 | | | 15:g.48937089G>T | - | | |
NM_000138.5(FBN1):c.-136G>C | 2200 | FBN1 | Uncertain significance | 879283668 | RCV000291944|RCV000299142|RCV000311576|RCV000352343|RCV000354041|RCV000401647|RCV000406680; | N | 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|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600, Orphanet:3449| | 15 | 48937102 | 48937102 | | | 15:g.48937102C>G | ClinGen:CA10636163 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.5(FBN1):c.-176A>T | 2200 | FBN1 | Conflicting interpretations of pathogenicity | 560004254 | RCV000124992|RCV000268782|RCV000264869|RCV000300292|RCV000324750|RCV000328495|RCV000359548|RCV000360793; | N | MedGen: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,Or | 15 | 48937142 | 48937142 | | | NC_000015.9:g.48937142T>A | ClinGen:CA012556 | C0265287 102370 Acromicric dysplasia; | |
NM_000138.4(FBN1):c.-400A>T | 2200 | FBN1 | Uncertain significance | 1890299170 | RCV001116196|RCV001116195|RCV001117637|RCV001117638|RCV001117639|RCV001117640; | N | 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|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963,O | 15 | 48937990 | 48937990 | | | 15:g.48937990T>A | - | | |
NM_000428.3(LTBP2):c.1553G>T (p.Ser518Ile) | 4053 | LTBP2 | Benign/Likely benign | 137854857 | RCV000114807|RCV000954982|RCV001116267|RCV001116268|RCV001795158; | N | MONDO: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:CN169374 | 14 | 75017900 | 75017900 | | | 14:g.75017900C>A | ClinGen:CA281451 | C1851286 129600 Ectopia lentis, isolated, autosomal dominant; | |