All variants in the FBN2 gene

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

552 entries on 6 pages. Showing entries 1 - 100.
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Effect     

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     
./. - c.-17843989_*3766623dup - - - pathogenic g.123828524_145717285dup - - - SIL1_000024 mosaicism, copy number 3 in 0.38 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - 0 - Johan den Dunnen
-?/. - 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 c.68C>G r.(?) p.(Ala23Gly) - VUS g.127873229G>C g.128537536G>C - - FBN2_000220 - PubMed: Peeters 2021 - - Germline - 1/913 controls - 0 - Johan den Dunnen
?/. 1 c.92A>T r.(?) p.(Gln31Leu) - VUS g.127873205T>A g.128537512T>A - - FBN2_000329 - PubMed: Peeters 2021 - - Germline - 1/913 controls - 0 - Johan den Dunnen
-?/. - 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 - - - 0 - VKGL-NL_VUmc
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - c.110C>A r.(?) p.(Pro37Gln) - likely benign g.127873187G>T - FBN2(NM_001999.3):c.110C>A (p.P37Q, p.(Pro37Gln)) - FBN2_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - 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 - - - 0 - VKGL-NL_VUmc
-/. - 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 - - - 0 - VKGL-NL_Utrecht
?/. - 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 - - - 0 - VKGL-NL_Rotterdam
?/. - 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
?/. - 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
-/. - 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
-/. - 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_VUmc
-?/. - 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
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-/. - c.203C>T r.(?) p.(Ala68Val) - 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 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.203C>T r.(?) p.(Ala68Val) - 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 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.203C>T r.(?) p.(Ala68Val) - 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 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.203C>T r.(?) p.(Ala68Val) - likely benign g.127873094G>A g.128537401G>A - - FBN2_000140 54 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs62390671 Germline - 54/2786 individuals - 0 - Mohammed Faruq
?/. - 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
?/. - 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
-?/. - 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
-?/. - 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
?/. - 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
?/. - 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
-?/. - c.518C>T r.(?) p.(Thr173Ile) - likely benign g.127863579G>A g.128527886G>A FBN2(NM_001999.3):c.518C>T (p.(Thr173Ile), p.T173I) - FBN2_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.518C>T r.(?) p.(Thr173Ile) - likely benign g.127863579G>A - FBN2(NM_001999.3):c.518C>T (p.(Thr173Ile), p.T173I) - FBN2_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 4 c.518C>T r.(?) p.(Thr173Ile) - VUS g.127863579G>A g.128527886G>A - - FBN2_000214 - PubMed: Peeters 2021 - - Germline - 1/714 controls - 0 - Johan den Dunnen
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - 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
-?/. - 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
-?/. - 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
-/. - 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
-?/. - c.728T>C r.(?) p.(Ile243Thr) - likely benign 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 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.728T>C r.(?) p.(Ile243Thr) - likely benign g.127800515A>G g.128464822A>G - - FBN2_000211 75 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117524265 Germline - 75/2795 individuals - 0 - Mohammed Faruq
-?/. - c.728T>C r.(?) p.(Ile243Thr) - likely benign g.127800515A>G g.128464822A>G - - FBN2_000211 7 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117524265 Germline - 7/2795 individuals - 0 - Mohammed Faruq
-/. - c.728T>C r.(?) p.(Ile243Thr) - benign g.127800515A>G - FBN2(NM_001999.3):c.728T>C (p.(Ile243Thr)), FBN2(NM_001999.4):c.728T>C (p.I243T) - FBN2_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 6 c.728T>C r.(?) p.(Ile243Thr) - VUS g.127800515A>G g.128464822A>G - - FBN2_000211 - PubMed: Peeters 2021 - - Germline - 5/216 cases - 0 - Johan den Dunnen
?/. 6 c.728T>C r.(?) p.(Ile243Thr) - VUS g.127800515A>G g.128464822A>G - - FBN2_000211 - PubMed: Peeters 2021 - - Germline - 5/913 controls - 0 - Johan den Dunnen
-/. - c.738G>A r.(?) p.(Ala246=) - 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 - - - 0 - VKGL-NL_Utrecht
-?/. - c.738G>A r.(?) p.(Ala246=) - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - c.738G>A r.(?) p.(Ala246=) - likely benign g.127800505C>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
?/. - 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 - - - 0 - VKGL-NL_Rotterdam
?/. - 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 - - - 0 - VKGL-NL_Utrecht
?/. - 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
-?/. - 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
-/. - c.829G>A r.(?) p.(Val277Ile) - benign 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 - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.829G>A r.(?) p.(Val277Ile) - likely benign 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 - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.829G>A r.(?) p.(Val277Ile) - likely benign 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 - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 7 c.829G>A r.(?) p.(Val277Ile) - VUS g.127782297C>T g.128446604C>T - - FBN2_000209 - PubMed: Peeters 2021 - - Germline - 3/714 controls - 0 - Johan den Dunnen
?/. 7 c.829G>A r.(?) p.(Val277Ile) - VUS g.127782297C>T g.128446604C>T - - FBN2_000209 - PubMed: Peeters 2021 - - Germline - 1/913 controls - 0 - Johan den Dunnen
?/. - 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 - - - 0 - VKGL-NL_Rotterdam
?/. - 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
-/. - 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 - - - 0 - VKGL-NL_Utrecht
-/. - 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 - - - 0 - VKGL-NL_Groningen
-?/. - 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 - - - 0 - VKGL-NL_VUmc
-?/. - 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 - - - 0 - VKGL-NL_Utrecht
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - 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
-?/. - 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 - - - 0 - VKGL-NL_VUmc
-?/. - c.968G>A r.(?) p.(Ser323Asn) - likely benign g.127744477C>T - FBN2(NM_001999.4):c.968G>A (p.S323N) - FBN2_000295 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 8 c.968G>A r.(?) p.(Ser323Asn) - VUS g.127744477C>T g.128408784C>T - - FBN2_000295 - PubMed: Peeters 2021 - - Germline - 1/913 controls - 0 - Johan den Dunnen
-/. - c.976C>T r.(?) p.(Pro326Ser) - benign g.127744469G>A g.128408776G>A FBN2(NM_001999.3):c.976C>T (p.P326S, p.(Pro326Ser)), FBN2(NM_001999.4):c.976C>T (p.P326S) - FBN2_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.976C>T r.(?) p.(Pro326Ser) - benign g.127744469G>A g.128408776G>A FBN2(NM_001999.3):c.976C>T (p.P326S, p.(Pro326Ser)), FBN2(NM_001999.4):c.976C>T (p.P326S) - FBN2_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.976C>T r.(?) p.(Pro326Ser) - likely benign g.127744469G>A g.128408776G>A FBN2(NM_001999.3):c.976C>T (p.P326S, p.(Pro326Ser)), FBN2(NM_001999.4):c.976C>T (p.P326S) - FBN2_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.976C>T r.(?) p.(Pro326Ser) - likely benign g.127744469G>A g.128408776G>A FBN2(NM_001999.3):c.976C>T (p.P326S, p.(Pro326Ser)), FBN2(NM_001999.4):c.976C>T (p.P326S) - FBN2_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.976C>T r.(?) p.(Pro326Ser) - VUS g.127744469G>A g.128408776G>A 976G>A - FBN2_000130 - PubMed: Duvvari 2016 - rs28763954 Germline - - - 0 - LOVD
?/. 8 c.976C>T r.(?) p.(Pro326Ser) - VUS g.127744469G>A g.128408776G>A - - FBN2_000130 - PubMed: Peeters 2021 - - Germline - 1/216 cases - 0 - Johan den Dunnen
?/. 8 c.976C>T r.(?) p.(Pro326Ser) - VUS g.127744469G>A g.128408776G>A - - FBN2_000130 - PubMed: Peeters 2021 - - Germline - 1/714 controls - 0 - Johan den Dunnen
?/. 8 c.976C>T r.(?) p.(Pro326Ser) - VUS g.127744469G>A g.128408776G>A - - FBN2_000130 - PubMed: Peeters 2021 - - Germline - 2/913 controls - 0 - Johan den Dunnen
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - 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_Nijmegen
-?/. - c.1040G>A r.(?) p.(Arg347His) - likely benign 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 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1040G>A r.(?) p.(Arg347His) - likely benign 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 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1040G>A r.(?) p.(Arg347His) - likely benign g.127744405C>T g.128408712C>T - - FBN2_000208 13 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs112428886 Germline - 13/2795 individuals - 0 - Mohammed Faruq
?/. 8 c.1040G>A r.(?) p.(Arg347His) - VUS g.127744405C>T g.128408712C>T - - FBN2_000208 - PubMed: Peeters 2021 - - Germline - 4/216 cases - 0 - Johan den Dunnen
?/. 8 c.1040G>A r.(?) p.(Arg347His) - VUS g.127744405C>T g.128408712C>T - - FBN2_000208 - PubMed: Peeters 2021 - - Germline - 5/714 controls - 0 - Johan den Dunnen
?/. 8 c.1040G>A r.(?) p.(Arg347His) - VUS g.127744405C>T g.128408712C>T - - FBN2_000208 - PubMed: Peeters 2021 - - Germline - 3/913 controls - 0 - Johan den Dunnen
?/. - c.1040G>A r.(?) p.(Arg347His) - VUS g.127744405C>T - - - FBN2_000208 - PubMed: Schubert 2016 - rs112428886 Germline - - - 0 - Johan den Dunnen
+/. - c.1064G>A r.(?) p.(Gly355Asp) - pathogenic (recessive) g.127744381C>T g.128408688C>T - - FBN2_000147 - PubMed: Alazami 2015, Journal: Alazami 2015 - - Germline yes - - 0 - Johan den Dunnen
-?/. - 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
?/. - 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
?/. 9 c.1139C>T r.(?) p.(Pro380Leu) - VUS g.127730907G>A g.128395214G>A - - FBN2_000328 - PubMed: Peeters 2021 - - Germline - 1/913 controls - 0 - Johan den Dunnen
-?/. - 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
?/. 9 c.1157T>C r.(?) p.(Met386Thr) - VUS g.127730889A>G g.128395196A>G - - FBN2_000327 - PubMed: Peeters 2021 - - Germline - 1/913 controls - 0 - Johan den Dunnen
?/. 10 c.1238A>G r.(?) p.(Tyr413Cys) - VUS g.127729055T>C g.128393362T>C - - FBN2_000326 - PubMed: Peeters 2021 - - Germline - 2/714 controls - 0 - Johan den Dunnen
?/. 10 c.1285A>G r.(?) p.(Ser429Gly) - VUS g.127729008T>C g.128393315T>C - - FBN2_000325 - PubMed: Peeters 2021 - - Germline - 1/714 controls - 0 - Johan den Dunnen
-?/. - 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
?/. - 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 - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1423G>C r.(?) p.(Gly475Arg) - VUS g.127728870C>G g.128393177C>G - - FBN2_000206 - PubMed: Overwater 2018 - - Germline - 1/128 cases FA - 0 - Johan den Dunnen
?/. - 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 - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. 10 c.1435G>A r.(?) p.(Gly479Arg) - VUS g.127728858C>T g.128393165C>T - - FBN2_000128 - PubMed: Peeters 2021 - - Germline - 1/913 controls - 0 - Johan den Dunnen
?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - 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
-/. - c.1466-5C>T r.spl? p.? - 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 - - - 0 - VKGL-NL_VUmc
-?/. - c.1466-5C>T r.spl? p.? - likely benign g.127727853G>A - FBN2(NM_001999.3):c.1466-5C>T (p.?, ) - FBN2_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - 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
-?/. - 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_VUmc
-?/. - c.1466-4G>A r.spl? p.? - likely benign g.127727852C>T - FBN2(NM_001999.3):c.1466-4G>A (, p.?) - FBN2_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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