Unique variants in the FBN2 gene

Information The variants shown are described using the NM_001999.3 transcript reference sequence.

339 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
./. 1 - c.-17843989_*3766623dup - - - pathogenic g.123828524_145717285dup - - - SIL1_000024 mosaicism, copy number 3 in 0.38 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - Johan den Dunnen
-?/. 1 - c.26T>C r.(?) p.(Leu9Pro) - likely benign g.127873271A>G g.128537578A>G FBN2(NM_001999.4):c.26T>C (p.L9P) - FBN2_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 1 c.68C>G r.(?) p.(Ala23Gly) - VUS g.127873229G>C g.128537536G>C - - FBN2_000220 - PubMed: Peeters 2021 - - Germline - 1/913 controls - - - Johan den Dunnen
?/. 1 1 c.92A>T r.(?) p.(Gln31Leu) - VUS g.127873205T>A g.128537512T>A - - FBN2_000329 - PubMed: Peeters 2021 - - Germline - 1/913 controls - - - Johan den Dunnen
-?/. 3 - c.110C>A r.(?) p.(Pro37Gln) - likely benign g.127873187G>T g.128537494G>T FBN2(NM_001999.3):c.110C>A (p.P37Q, p.(Pro37Gln)) - FBN2_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_VUmc
-/. 2 - c.111G>A r.(?) p.(Pro37=) - benign g.127873186C>T g.128537493C>T FBN2(NM_001999.3):c.111G>A (p.P37=), FBN2(NM_001999.4):c.111G>A (p.P37=) - FBN2_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
?/. 1 - c.132G>C r.(?) p.(Pro44=) - VUS g.127873165C>G g.128537472C>G FBN2(NM_001999.3):c.132G>C (p.P44=) - FBN2_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.158G>A r.(?) p.(Gly53Asp) - VUS g.127873139C>T - FBN2(NM_001999.3):c.158G>A (p.G53D) - FBN2_000296 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.168C>T r.(?) p.(Gly56=) - VUS g.127873129G>A - FBN2(NM_001999.3):c.168C>T (p.G56=) - FBN2_000344 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.183C>G r.(?) p.(Pro61=) - benign g.127873114G>C g.128537421G>C FBN2(NM_001999.3):c.183C>G (p.P61=), FBN2(NM_001999.4):c.183C>G (p.P61=) - FBN2_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/. 1 - c.186G>A r.(?) p.(Glu62=) - likely benign g.127873111C>T g.128537418C>T FBN2(NM_001999.3):c.186G>A (p.E62=) - FBN2_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.195G>A r.(?) p.(Glu65=) - likely benign g.127873102C>T g.128537409C>T FBN2(NM_001999.3):c.195G>A (p.E65=) - FBN2_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 4 - c.203C>T r.(?) p.(Ala68Val) - benign, likely benign g.127873094G>A g.128537401G>A FBN2(NM_001999.3):c.203C>T (p.(Ala68Val), p.A68V), FBN2(NM_001999.4):c.203C>T (p.A68V) - FBN2_000140 54 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs62390671 CLASSIFICATION record, Germline - 54/2786 individuals - - - VKGL-NL_Leiden, VKGL-NL_Utrecht, VKGL-NL_VUmc, Mohammed Faruq
?/. 1 - c.230G>T r.(?) p.(Arg77Leu) - VUS g.127873067C>A - FBN2(NM_001999.3):c.230G>T (p.R77L) - FBN2_000312 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.253G>C r.(?) p.(Gly85Arg) - VUS g.127873044C>G g.128537351C>G FBN2(NM_001999.3):c.253G>C (p.G85R) - FBN2_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.254+5G>C r.spl? p.? - likely benign g.127873038C>G g.128537345C>G FBN2(NM_001999.3):c.254+5G>C (p.?) - FBN2_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.254+373C>T r.(=) p.(=) - likely benign g.127872670G>A g.128536977G>A FBN2(NM_001999.3):c.254+373C>T - FBN2_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.287_289del r.(?) p.(Tyr96del) - VUS g.127872145_127872147del - FBN2(NM_001999.4):c.287_289delACT (p.Y96del) - FBN2_000311 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.376C>T r.(?) p.(Arg126Cys) - VUS g.127866348G>A g.128530655G>A FBN2(NM_001999.3):c.376C>T (p.(Arg126Cys)) - FBN2_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 3 4 c.518C>T r.(?) p.(Thr173Ile) - likely benign, VUS g.127863579G>A g.128527886G>A FBN2(NM_001999.3):c.518C>T (p.(Thr173Ile), p.T173I) - FBN2_000214 VKGL data sharing initiative Nederland PubMed: Peeters 2021 - - CLASSIFICATION record, Germline - 1/714 controls - - - Johan den Dunnen, VKGL-NL_Leiden, VKGL-NL_VUmc
-?/. 1 - c.522T>C r.(?) p.(Tyr174=) - likely benign g.127863575A>G g.128527882A>G FBN2(NM_001999.3):c.522T>C (p.Y174=) - FBN2_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.579C>G r.(?) p.(Pro193=) - likely benign g.127855015G>C g.128519322G>C FBN2(NM_001999.3):c.579C>G (p.P193=) - FBN2_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.628+155T>A r.(=) p.(=) - likely benign g.127854811A>T g.128519118A>T FBN2(NM_001999.3):c.628+155T>A - FBN2_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.629-18_629-15del r.(=) p.(=) - likely benign g.127800637_127800640del g.128464944_128464947del FBN2(NM_001999.3):c.629-18_629-15delTCTT - FBN2_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.629-9A>G r.(=) p.(=) - benign g.127800623T>C g.128464930T>C FBN2(NM_001999.3):c.629-9A>G - FBN2_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/., -?/., ?/. 6 6 c.728T>C r.(?) p.(Ile243Thr) - benign, likely benign, VUS g.127800515A>G g.128464822A>G FBN2(NM_001999.3):c.728T>C (p.(Ile243Thr)), FBN2(NM_001999.4):c.728T>C (p.I243T) - FBN2_000211 7 homozygous; Clinindb (India), 75 heterozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020, PubMed: Peeters 2021 - rs117524265 CLASSIFICATION record, Germline - 5/216 cases, 5/913 controls, 7/2795 individuals, 75/2795 individuals - - - Johan den Dunnen, VKGL-NL_Leiden, VKGL-NL_Utrecht, Mohammed Faruq
-/., -?/. 3 - c.738G>A r.(?) p.(Ala246=) - benign, likely benign g.127800505C>T g.128464812C>T FBN2(NM_001999.3):c.738G>A (p.A246=, p.(Ala246=)), FBN2(NM_001999.4):c.738G>A (p.A246=) - FBN2_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.756G>T r.(?) p.(Glu252Asp) - VUS g.127800487C>A g.128464794C>A FBN2(NM_001999.3):c.756G>T (p.E252D) - FBN2_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.811A>C r.(?) p.(Thr271Pro) - VUS g.127800432T>G g.128464739T>G FBN2(NM_001999.3):c.811A>C (p.T271P), FBN2(NM_001999.4):c.811A>C (p.T271P) - FBN2_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.827-3C>T r.spl? p.? - likely benign g.127782302G>A g.128446609G>A FBN2(NM_001999.3):c.827-3C>T (p.?) - FBN2_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/., ?/. 5 7 c.829G>A r.(?) p.(Val277Ile) - benign, likely benign, VUS g.127782297C>T g.128446604C>T FBN2(NM_001999.3):c.829G>A (p.(Val277Ile), p.V277I), FBN2(NM_001999.4):c.829G>A (p.V277I) - FBN2_000209 VKGL data sharing initiative Nederland PubMed: Peeters 2021 - - CLASSIFICATION record, Germline - 1/913 controls, 3/714 controls - - - Johan den Dunnen, VKGL-NL_Leiden, VKGL-NL_Utrecht, VKGL-NL_VUmc
?/. 1 - c.884C>T r.(?) p.(Thr295Ile) - VUS g.127782242G>A g.128446549G>A FBN2(NM_001999.3):c.884C>T (p.T295I) - FBN2_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.910C>T r.(?) p.(Pro304Ser) - VUS g.127782216G>A g.128446523G>A - - FBN2_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.952+141A>C r.(=) p.(=) - benign g.127782033T>G g.128446340T>G FBN2(NM_001999.4):c.952+141A>C - FBN2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.952+4177C>T r.(=) p.(=) - benign g.127777997G>A g.128442304G>A FBN2(NM_001999.4):c.952+4177C>T - FBN2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 4 - c.953-8T>G r.(=) p.(=) - likely benign g.127744500A>C g.128408807A>C FBN2(NM_001999.3):c.953-8T>G (, p.(=)), FBN2(NM_001999.4):c.953-8T>G - FBN2_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/. 1 - c.957T>C r.(?) p.(Ile319=) - likely benign g.127744488A>G g.128408795A>G FBN2(NM_001999.3):c.957T>C (p.I319=) - FBN2_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/., ?/. 2 8 c.968G>A r.(?) p.(Ser323Asn) - likely benign, VUS g.127744477C>T g.128408784C>T FBN2(NM_001999.4):c.968G>A (p.S323N) - FBN2_000295 VKGL data sharing initiative Nederland PubMed: Peeters 2021 - - CLASSIFICATION record, Germline - 1/913 controls - - - Johan den Dunnen, VKGL-NL_Utrecht
-/., -?/., ?/. 8 8 c.976C>T r.(?) p.(Pro326Ser) - benign, likely benign, VUS g.127744469G>A g.128408776G>A 976G>A, 1 more item - FBN2_000130 VKGL data sharing initiative Nederland PubMed: Duvvari 2016, PubMed: Peeters 2021 - rs28763954 CLASSIFICATION record, Germline - 1/216 cases, 1/714 controls, 2/913 controls - - - Johan den Dunnen, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/. 2 - c.1011C>T r.(?) p.(Thr337=) - likely benign g.127744434G>A g.128408741G>A FBN2(NM_001999.3):c.1011C>T (p.T337=) - FBN2_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/., ?/. 7 8 c.1040G>A r.(?) p.(Arg347His) - likely benign, VUS g.127744405C>T g.128408712C>T FBN2(NM_001999.3):c.1040G>A (p.(Arg347His)), FBN2(NM_001999.4):c.1040G>A (p.R347H) - FBN2_000208 13 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020, PubMed: Peeters 2021, PubMed: Schubert 2016 - rs112428886 CLASSIFICATION record, Germline - 13/2795 individuals, 3/913 controls, 4/216 cases, 5/714 controls - - - Johan den Dunnen, VKGL-NL_Leiden, VKGL-NL_Utrecht, Mohammed Faruq
+/. 1 - c.1064G>A r.(?) p.(Gly355Asp) - pathogenic (recessive) g.127744381C>T g.128408688C>T - - FBN2_000147 - PubMed: Alazami 2015, Journal: Alazami 2015 - - Germline yes - - - - Johan den Dunnen
-?/. 1 - c.1079-14T>G r.(=) p.(=) - likely benign g.127730981A>C g.128395288A>C - - FBN2_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1121G>A r.(?) p.(Arg374His) - VUS g.127730925C>T g.128395232C>T FBN2(NM_001999.3):c.1121G>A (p.(Arg374His)) - FBN2_000251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 9 c.1139C>T r.(?) p.(Pro380Leu) - VUS g.127730907G>A g.128395214G>A - - FBN2_000328 - PubMed: Peeters 2021 - - Germline - 1/913 controls - - - Johan den Dunnen
-?/. 1 - c.1148T>A r.(?) p.(Met383Lys) - likely benign g.127730898A>T g.128395205A>T FBN2(NM_001999.3):c.1148T>A (p.M383K) - FBN2_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 9 c.1157T>C r.(?) p.(Met386Thr) - VUS g.127730889A>G g.128395196A>G - - FBN2_000327 - PubMed: Peeters 2021 - - Germline - 1/913 controls - - - Johan den Dunnen
?/. 1 10 c.1238A>G r.(?) p.(Tyr413Cys) - VUS g.127729055T>C g.128393362T>C - - FBN2_000326 - PubMed: Peeters 2021 - - Germline - 2/714 controls - - - Johan den Dunnen
?/. 1 10 c.1285A>G r.(?) p.(Ser429Gly) - VUS g.127729008T>C g.128393315T>C - - FBN2_000325 - PubMed: Peeters 2021 - - Germline - 1/714 controls - - - Johan den Dunnen
-?/. 1 - c.1422C>T r.(?) p.(Ala474=) - likely benign g.127728871G>A g.128393178G>A FBN2(NM_001999.3):c.1422C>T (p.A474=) - FBN2_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.1423G>C r.(?) p.(Gly475Arg) - VUS g.127728870C>G g.128393177C>G FBN2(NM_001999.3):c.1423G>C (p.G475R) - FBN2_000206 VKGL data sharing initiative Nederland PubMed: Overwater 2018 - - CLASSIFICATION record, Germline - 1/128 cases FA - - - Johan den Dunnen, VKGL-NL_VUmc
?/. 2 10 c.1435G>A r.(?) p.(Gly479Arg) - VUS g.127728858C>T g.128393165C>T FBN2(NM_001999.3):c.1435G>A (p.G479R) - FBN2_000128 VKGL data sharing initiative Nederland PubMed: Peeters 2021 - - CLASSIFICATION record, Germline - 1/913 controls - - - Johan den Dunnen, VKGL-NL_Rotterdam
?/. 1 - c.1453A>G r.(?) p.(Ile485Val) - VUS g.127728840T>C g.128393147T>C FBN2(NM_001999.3):c.1453A>G (p.I485V) - FBN2_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1465+177A>G r.(=) p.(=) - likely benign g.127728651T>C - FBN2(NM_001999.3):c.1465+177A>G - FBN2_000294 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/., -?/. 2 - c.1466-5C>T r.spl? p.? - benign, likely benign g.127727853G>A g.128392160G>A FBN2(NM_001999.3):c.1466-5C>T (p.?, ) - FBN2_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
-?/. 3 - c.1466-4G>A r.spl? p.? - likely benign g.127727852C>T g.128392159C>T FBN2(NM_001999.3):c.1466-4G>A (, p.?) - FBN2_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.1482A>T r.(?) p.(Thr494=) - likely benign g.127727832T>A g.128392139T>A FBN2(NM_001999.3):c.1482A>T (p.T494=) - FBN2_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1484T>C r.(?) p.(Ile495Thr) - VUS g.127727830A>G g.128392137A>G - - FBN2_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1499A>C r.(?) p.(His500Pro) - VUS g.127727815T>G g.128392122T>G FBN2(NM_001999.3):c.1499A>C (p.H500P) - FBN2_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1500T>G r.(?) p.(His500Gln) - likely benign g.127727814A>C - FBN2(NM_001999.4):c.1500T>G (p.H500Q) - FBN2_000293 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/., ?/. 3 - c.1592G>C r.(?) p.(Gly531Ala) - benign, likely benign, VUS g.127727722C>G g.128392029C>G FBN2(NM_001999.3):c.1592G>C (p.G531A, p.(Gly531Ala)) - FBN2_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.1604-8G>C r.(=) p.(=) - likely benign g.127714591C>G g.128378898C>G - - FBN2_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1644T>G r.(?) p.(Asp548Glu) - VUS g.127714543A>C g.128378850A>C FBN2(NM_001999.4):c.1644T>G (p.D548E) - FBN2_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1720A>G r.(?) p.(Ile574Val) - VUS g.127714467T>C - FBN2(NM_001999.3):c.1720A>G (p.I574V) - FBN2_000343 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1734G>C r.(?) p.(Glu578Asp) - VUS g.127713560C>G - FBN2(NM_001999.3):c.1734G>C (p.E578D) - FBN2_000265 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1769G>A r.(?) p.(Arg590Gln) - VUS g.127713525C>T g.128377832C>T FBN2(NM_001999.3):c.1769G>A (p.(Arg590Gln)) - FBN2_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.1826C>G r.(?) p.(Thr609Ser) - VUS g.127713468G>C g.128377775G>C FBN2(NM_001999.3):c.1826C>G (p.(Thr609Ser)), FBN2(NM_001999.4):c.1826C>G (p.T609S) - FBN2_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
-?/. 1 - c.1850-169C>G r.(=) p.(=) - likely benign g.127712715G>C - FBN2(NM_001999.3):c.1850-169C>G - FBN2_000272 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 3 - c.1850-9C>T r.(=) p.(=) - likely benign g.127712555G>A g.128376862G>A FBN2(NM_001999.3):c.1850-9C>T, FBN2(NM_001999.4):c.1850-9C>T - FBN2_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-?/. 1 - c.1902T>C r.(?) p.(Asn634=) - likely benign g.127712494A>G g.128376801A>G FBN2(NM_001999.3):c.1902T>C (p.N634=) - FBN2_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.1972+176A>G r.(=) p.(=) - likely benign g.127712248T>C - FBN2(NM_001999.3):c.1972+176A>G - FBN2_000271 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.1973-253T>C r.(=) p.(=) - likely benign g.127710696A>G - FBN2(NM_001999.3):c.1973-253T>C - FBN2_000292 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 4 15 c.1990A>T r.(?) p.(Thr664Ser) - VUS g.127710426T>A g.128374733T>A FBN2(NM_001999.3):c.1990A>T (p.T664S) - FBN2_000235 VKGL data sharing initiative Nederland PubMed: Overwater 2018, PubMed: Peeters 2021 - - CLASSIFICATION record, Germline - 2/913 controls - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/., ?/. 2 15 c.2042G>A r.(?) p.(Arg681His) - likely benign, VUS g.127710374C>T g.128374681C>T FBN2(NM_001999.3):c.2042G>A (p.(Arg681His)) - FBN2_000201 VKGL data sharing initiative Nederland PubMed: Peeters 2021 - - CLASSIFICATION record, Germline - 2/714 controls - - - Johan den Dunnen, VKGL-NL_Leiden
?/. 1 15 c.2047G>C r.(?) p.(Asp683His) - VUS g.127710369C>G g.128374676C>G - - FBN2_000324 - PubMed: Peeters 2021 - - Germline - 1/714 controls - - - Johan den Dunnen
-?/. 1 - c.2054C>A r.(?) p.(Pro685His) - likely benign g.127710362G>T - FBN2(NM_001999.3):c.2054C>A (p.(Pro685His)) - FBN2_000291 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.2095+4del r.spl? p.? - likely pathogenic g.127710318del g.128374625del FBN2(NM_001999.3):c.2095+4delA - FBN2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.2096-19G>A r.(=) p.(=) - likely benign g.127705046C>T g.128369353C>T - - FBN2_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.2096A>G r.(?) p.(Asp699Gly) - likely pathogenic g.127705027T>C g.128369334T>C - - FBN2_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.2248+317C>T r.(=) p.(=) - likely benign g.127704558G>A - FBN2(NM_001999.3):c.2248+317C>T - FBN2_000290 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.2249-69A>T r.(=) p.(=) - likely benign g.127702192T>A - FBN2(NM_001999.3):c.2249-69A>T - FBN2_000289 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.2252A>C r.(?) p.(Glu751Ala) - VUS g.127702120T>G - FBN2(NM_001999.3):c.2252A>C (p.E751A) - FBN2_000310 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 6 17 c.2260G>A r.(?) p.(Gly754Ser) - likely benign, VUS g.127702112C>T g.128366419C>T FBN2(NM_001999.3):c.2260G>A (p.(Gly754Ser), p.G754S), FBN2(NM_001999.4):c.2260G>A (p.G754S) - FBN2_000120 VKGL data sharing initiative Nederland PubMed: Peeters 2021 - - CLASSIFICATION record, Germline - 2/714 controls, 2/913 controls - - - Johan den Dunnen, VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/. 1 - c.2283T>C r.(?) p.(Gly761=) - likely benign g.127702089A>G g.128366396A>G FBN2(NM_001999.3):c.2283T>C (p.G761=) - FBN2_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.2303-2A>G r.spl? p.? - VUS g.127700420T>C - FBN2(NM_001999.4):c.2303-2A>G - FBN2_000288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.2359T>A r.(?) p.(Leu787Ile) - VUS g.127700362A>T g.128364669A>T - - FBN2_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2384G>C r.(?) p.(Cys795Ser) - VUS g.127700337C>G g.128364644C>G FBN2(NM_001999.3):c.2384G>C (p.(Cys795Ser)) - FBN2_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 3 - c.2427T>A r.(?) p.(Ile809=) - benign, likely benign g.127700294A>T g.128364601A>T FBN2(NM_001999.3):c.2427T>A (p.I809=), FBN2(NM_001999.4):c.2427T>A (p.I809=) - FBN2_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc
?/. 1 - c.2428+6T>A r.(=) p.(=) - VUS g.127700287A>T g.128364594A>T FBN2(NM_001999.3):c.2428+6T>A - FBN2_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.2489C>T r.(?) p.(Pro830Leu) - VUS g.127697481G>A g.128361788G>A FBN2(NM_001999.3):c.2489C>T (p.(Pro830Leu)), FBN2(NM_001999.4):c.2489C>T (p.P830L) - FBN2_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen
?/. 1 19 c.2507C>T r.(?) p.(Thr836Met) ACMG VUS g.127697463G>A - - - FBN2_000298 - PubMed: Bahena 2021 - - Unknown yes - - - - Barbara Vona
-?/. 1 - c.2508G>A r.(?) p.(Thr836=) - likely benign g.127697462C>T g.128361769C>T FBN2(NM_001999.3):c.2508G>A (p.T836=) - FBN2_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.2534C>T r.(?) p.(Thr845Ile) - likely benign g.127697436G>A g.128361743G>A FBN2(NM_001999.3):c.2534C>T (p.T845I) - FBN2_000248 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 6 19 c.2536G>A r.(?) p.(Glu846Lys) - likely benign, VUS g.127697434C>T g.128361741C>T FBN2(NM_001999.3):c.2536G>A (p.E846K), FBN2(NM_001999.4):c.2536G>A (p.E846K) - FBN2_000195 found with TSC1 nonsense c.2530C>T, VKGL data sharing initiative Nederland PubMed: Caylor 2018, PubMed: Peeters 2021 - - CLASSIFICATION record, Germline ? 1/216 cases - - - Johan den Dunnen, Rosemary Ekong, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 2 - c.2555-8G>T r.(=) p.(=) - likely benign g.127693095C>A g.128357403C>A FBN2(NM_001999.3):c.2555-8G>T - FBN2_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 3 - c.2555-7A>G r.(=) p.(=) - likely benign g.127693094T>C g.128357402T>C FBN2(NM_001999.3):c.2555-7A>G, FBN2(NM_001999.4):c.2555-7A>G - FBN2_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/. 1 - c.2555-6T>C r.(=) p.(=) - likely benign g.127693093A>G g.128357401A>G - - FBN2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2560A>C r.(?) p.(Asn854His) - VUS g.127693082T>G g.128357390T>G FBN2(NM_001999.3):c.2560A>C (p.N854H) - FBN2_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.2625T>C r.(?) p.(Cys875=) - likely benign g.127693017A>G g.128357325A>G FBN2(NM_001999.3):c.2625T>C (p.C875=), FBN2(NM_001999.4):c.2625T>C (p.C875=) - FBN2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.2637C>T r.(?) p.(Pro879=) - likely benign g.127693005G>A - FBN2(NM_001999.3):c.2637C>T (p.P879=) - FBN2_000342 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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