Full data view for gene FBN2

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

852 entries on 9 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-17843989_*3766623dup - - Unknown - pathogenic g.123828524_145717285dup - - - SIL1_000024 mosaicism, copy number 3 in 0.38 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
?/. - c.5G>A r.(?) p.(Gly2Glu) Unknown - VUS g.127873292C>T - FBN2(NM_001999.3):c.5G>A (p.(Gly2Glu)) - FBN2_000496 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.26T>C r.(?) p.(Leu9Pro) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.68C>G r.(?) p.(Ala23Gly) Unknown - likely benign g.127873229G>C g.128537536G>C FBN2(NM_001999.3):c.68C>G (p.(Ala23Gly)) - FBN2_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.68C>G r.(?) p.(Ala23Gly) Unknown - VUS g.127873229G>C g.128537536G>C - - FBN2_000220 - PubMed: Peeters 2021 - - Germline - 1/913 controls - - - DNA SEQ - - Healthy/Control - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - - - - 1 Johan den Dunnen
?/. - c.83G>A r.(?) p.(Gly28Asp) Unknown - VUS g.127873214C>T - FBN2(NM_001999.4):c.83G>A (p.(Gly28Asp), p.G28D) - FBN2_000495 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.83G>A r.(?) p.(Gly28Asp) Unknown - VUS g.127873214C>T - FBN2(NM_001999.4):c.83G>A (p.(Gly28Asp), p.G28D) - FBN2_000495 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.87G>T r.(?) p.(Gln29His) Unknown - VUS g.127873210C>A - FBN2(NM_001999.3):c.87G>T (p.(Gln29His)) - FBN2_000494 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.92A>T r.(?) p.(Gln31Leu) Unknown - VUS g.127873205T>A g.128537512T>A - - FBN2_000329 - PubMed: Peeters 2021 - - Germline - 1/913 controls - - - DNA SEQ - - Healthy/Control - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - - - - 1 Johan den Dunnen
-?/. - c.110C>A r.(?) p.(Pro37Gln) Unknown - likely benign g.127873187G>T g.128537494G>T FBN2(NM_001999.3):c.110C>A (p.P37Q, p.(Pro37Gln)), FBN2(NM_001999.4):c.110C>A (p.P37Q) - FBN2_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.110C>A r.(?) p.(Pro37Gln) Unknown - likely benign g.127873187G>T g.128537494G>T FBN2(NM_001999.3):c.110C>A (p.P37Q, p.(Pro37Gln)), FBN2(NM_001999.4):c.110C>A (p.P37Q) - FBN2_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.110C>A r.(?) p.(Pro37Gln) Unknown - likely benign g.127873187G>T - FBN2(NM_001999.3):c.110C>A (p.P37Q, p.(Pro37Gln)), FBN2(NM_001999.4):c.110C>A (p.P37Q) - FBN2_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.111G>A r.(?) p.(Pro37=) Unknown - benign g.127873186C>T g.128537493C>T FBN2(NM_001999.4):c.111G>A (p.P37=) - FBN2_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.111G>A r.(?) p.(Pro37=) Unknown - benign g.127873186C>T g.128537493C>T FBN2(NM_001999.4):c.111G>A (p.P37=) - FBN2_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.132G>C r.(?) p.(Pro44=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.158G>A r.(?) p.(Gly53Asp) Unknown - VUS g.127873139C>T - FBN2(NM_001999.3):c.158G>A (p.G53D, p.(Gly53Asp)) - FBN2_000296 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.158G>A r.(?) p.(Gly53Asp) Unknown - VUS g.127873139C>T - FBN2(NM_001999.3):c.158G>A (p.G53D, p.(Gly53Asp)) - FBN2_000296 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.168C>T r.(?) p.(Gly56=) Unknown - VUS g.127873129G>A - FBN2(NM_001999.3):c.168C>T (p.G56=) - FBN2_000344 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.170G>T r.(?) p.(Gly57Val) Unknown - VUS g.127873127C>A - FBN2(NM_001999.4):c.170G>T (p.(Gly57Val)) - FBN2_000550 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.183C>G r.(?) p.(Pro61=) Unknown - benign g.127873114G>C g.128537421G>C FBN2(NM_001999.4):c.183C>G (p.P61=) - FBN2_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.183C>G r.(?) p.(Pro61=) Unknown - benign g.127873114G>C g.128537421G>C FBN2(NM_001999.4):c.183C>G (p.P61=) - FBN2_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.186G>A r.(?) p.(Glu62=) Unknown - likely benign g.127873111C>T g.128537418C>T FBN2(NM_001999.4):c.186G>A (p.E62=) - FBN2_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.195G>A r.(?) p.(Glu65=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.203C>T r.(?) p.(Ala68Val) Unknown - benign g.127873094G>A g.128537401G>A FBN2(NM_001999.3):c.203C>T (p.(Ala68Val)), FBN2(NM_001999.4):c.203C>T (p.A68V) - FBN2_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.203C>T r.(?) p.(Ala68Val) Unknown - benign g.127873094G>A g.128537401G>A FBN2(NM_001999.3):c.203C>T (p.(Ala68Val)), FBN2(NM_001999.4):c.203C>T (p.A68V) - FBN2_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.203C>T r.(?) p.(Ala68Val) Unknown - benign g.127873094G>A g.128537401G>A FBN2(NM_001999.3):c.203C>T (p.(Ala68Val)), FBN2(NM_001999.4):c.203C>T (p.A68V) - FBN2_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.203C>T r.(?) p.(Ala68Val) Parent #1 - 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 - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 54 Mohammed Faruq
?/. - c.230G>T r.(?) p.(Arg77Leu) Unknown - VUS g.127873067C>A - FBN2(NM_001999.4):c.230G>T (p.R77L) - FBN2_000312 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.253G>C r.(?) p.(Gly85Arg) Unknown - VUS g.127873044C>G g.128537351C>G FBN2(NM_001999.3):c.253G>C (p.G85R, p.(Gly85Arg)) - FBN2_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.253G>C r.(?) p.(Gly85Arg) Unknown - VUS g.127873044C>G - FBN2(NM_001999.3):c.253G>C (p.G85R, p.(Gly85Arg)) - FBN2_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.254+2dup r.spl? p.? Unknown - VUS g.127873041dup - - - FBN2_000438 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.254+5G>C r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.254+43G>A r.(=) p.(=) Unknown - likely benign g.127873000C>T - FBN2(NM_001999.4):c.254+43G>A - FBN2_000437 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.254+373C>T r.(=) p.(=) Unknown - likely benign g.127872670G>A g.128536977G>A FBN2(NM_001999.4):c.254+373C>T - FBN2_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.287_289del r.(?) p.(Tyr96del) Unknown - VUS g.127872145_127872147del - FBN2(NM_001999.4):c.287_289delACT (p.Y96del) - FBN2_000311 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.337+263T>C r.(=) p.(=) Unknown - likely benign g.127871832A>G - FBN2(NM_001999.4):c.337+263T>C - FBN2_000436 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.376C>T r.(?) p.(Arg126Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.377G>A r.(?) p.(Arg126His) Unknown - likely benign g.127866347C>T - FBN2(NM_001999.4):c.377G>A (p.(Arg126His)) - FBN2_000467 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.436+16G>A r.(=) p.(=) Unknown - benign g.127866272C>T - FBN2(NM_001999.4):c.436+16G>A - FBN2_000493 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.437-4G>A r.spl? p.? Unknown - likely benign g.127863664C>T - FBN2(NM_001999.4):c.437-4G>A - FBN2_000539 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.518C>T r.(?) p.(Thr173Ile) Unknown - likely benign g.127863579G>A g.128527886G>A FBN2(NM_001999.3):c.518C>T (p.(Thr173Ile)), FBN2(NM_001999.4):c.518C>T (p.T173I) - FBN2_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.518C>T r.(?) p.(Thr173Ile) Unknown - likely benign g.127863579G>A - FBN2(NM_001999.3):c.518C>T (p.(Thr173Ile)), FBN2(NM_001999.4):c.518C>T (p.T173I) - FBN2_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.518C>T r.(?) p.(Thr173Ile) Unknown - VUS g.127863579G>A g.128527886G>A - - FBN2_000214 - PubMed: Peeters 2021 - - Germline - 1/714 controls - - - DNA SEQ - - Healthy/Control - PubMed: Peeters 2021 analysis 714 healthy controls - - Belgium - - - - - 1 Johan den Dunnen
-?/. - c.518C>T r.(?) p.(Thr173Ile) Unknown - likely benign g.127863579G>A - FBN2(NM_001999.3):c.518C>T (p.(Thr173Ile)), FBN2(NM_001999.4):c.518C>T (p.T173I) - FBN2_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.522T>C r.(?) p.(Tyr174=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.579C>G r.(?) p.(Pro193=) Unknown - likely benign g.127855015G>C g.128519322G>C FBN2(NM_001999.3):c.579C>G (p.P193=), FBN2(NM_001999.4):c.579C>G (p.P193=) - FBN2_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.579C>G r.(?) p.(Pro193=) Unknown - likely benign g.127855015G>C - FBN2(NM_001999.3):c.579C>G (p.P193=), FBN2(NM_001999.4):c.579C>G (p.P193=) - FBN2_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.628+155T>A r.(=) p.(=) Unknown - likely benign g.127854811A>T g.128519118A>T FBN2(NM_001999.4):c.628+155T>A - FBN2_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.629-18_629-15del r.(=) p.(=) Unknown - likely benign g.127800637_127800640del g.128464944_128464947del FBN2(NM_001999.4):c.629-18_629-15delTCTT - FBN2_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.629-9A>G r.(=) p.(=) Unknown - benign g.127800623T>C g.128464930T>C FBN2(NM_001999.4):c.629-9A>G - FBN2_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.629-6T>C r.(=) p.(=) Unknown - likely benign g.127800620A>G - FBN2(NM_001999.4):c.629-6T>C - FBN2_000466 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.671T>C r.(?) p.(Met224Thr) Unknown - likely benign g.127800572A>G - FBN2(NM_001999.3):c.671T>C (p.(Met224Thr)) - FBN2_000492 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.672G>T r.(?) p.(Met224Ile) Unknown - VUS g.127800571C>A - FBN2(NM_001999.4):c.672G>T (p.M224I) - FBN2_000511 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.696T>C r.(?) p.(Ile232=) Unknown - likely benign g.127800547A>G - FBN2(NM_001999.4):c.696T>C (p.I232=) - FBN2_000369 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.704C>T r.(?) p.(Thr235Met) Unknown - likely benign g.127800539G>A - FBN2(NM_001999.3):c.704C>T (p.(Thr235Met)), FBN2(NM_001999.4):c.704C>T (p.T235M) - FBN2_000491 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.704C>T r.(?) p.(Thr235Met) Unknown - VUS g.127800539G>A - FBN2(NM_001999.3):c.704C>T (p.(Thr235Met)), FBN2(NM_001999.4):c.704C>T (p.T235M) - FBN2_000491 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.728T>C r.(?) p.(Ile243Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.728T>C r.(?) p.(Ile243Thr) Parent #1 - 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 - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 75 Mohammed Faruq
-?/. - c.728T>C r.(?) p.(Ile243Thr) Both (homozygous) - 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 - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 7 Mohammed Faruq
-/. - c.728T>C r.(?) p.(Ile243Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.728T>C r.(?) p.(Ile243Thr) Unknown - VUS g.127800515A>G g.128464822A>G - - FBN2_000211 - PubMed: Peeters 2021 - - Germline - 5/216 cases - - - DNA SEQ - - CTS - PubMed: Peeters 2021 analysis 216 cases carpal tunnel syndrome (adult onset) - - (Belgium);(Netherlands) - - - - - 5 Johan den Dunnen
?/. 6 c.728T>C r.(?) p.(Ile243Thr) Unknown - VUS g.127800515A>G g.128464822A>G - - FBN2_000211 - PubMed: Peeters 2021 - - Germline - 5/913 controls - - - DNA SEQ - - Healthy/Control - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - - - - 5 Johan den Dunnen
-?/. - c.728T>C r.(?) p.(Ile243Thr) Unknown - likely 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.738G>A r.(?) p.(Ala246=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.738G>A r.(?) p.(Ala246=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.738G>A r.(?) p.(Ala246=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.738G>A r.(?) p.(Ala246=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.756G>T r.(?) p.(Glu252Asp) Unknown - VUS g.127800487C>A g.128464794C>A FBN2(NM_001999.3):c.756G>T (p.E252D), FBN2(NM_001999.4):c.756G>T (p.(Glu252Asp)) - FBN2_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.756G>T r.(?) p.(Glu252Asp) Unknown - VUS g.127800487C>A - FBN2(NM_001999.3):c.756G>T (p.E252D), FBN2(NM_001999.4):c.756G>T (p.(Glu252Asp)) - FBN2_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.763C>T r.(?) p.(Pro255Ser) Unknown - VUS g.127800480G>A - FBN2(NM_001999.4):c.763C>T (p.P255S) - FBN2_000510 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.809G>A r.(?) p.(Arg270His) Unknown - likely benign g.127800434C>T g.128464741C>T FBN2(NM_001999.4):c.809G>A (p.(Arg270His), p.R270H) - FBN2_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.809G>A r.(?) p.(Arg270His) Unknown - VUS g.127800434C>T - FBN2(NM_001999.4):c.809G>A (p.(Arg270His), p.R270H) - FBN2_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.809G>T r.(?) p.(Arg270Leu) Unknown - VUS g.127800434C>A - FBN2(NM_001999.3):c.809G>T (p.(Arg270Leu)) - FBN2_000490 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.811A>C r.(?) p.(Thr271Pro) Unknown - VUS g.127800432T>G g.128464739T>G FBN2(NM_001999.3):c.811A>C (p.T271P, p.(Thr271Pro)), FBN2(NM_001999.4):c.811A>C (p.T271P) - FBN2_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.811A>C r.(?) p.(Thr271Pro) Unknown - VUS g.127800432T>G g.128464739T>G FBN2(NM_001999.3):c.811A>C (p.T271P, p.(Thr271Pro)), FBN2(NM_001999.4):c.811A>C (p.T271P) - FBN2_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.811A>C r.(?) p.(Thr271Pro) Unknown - VUS g.127800432T>G - FBN2(NM_001999.3):c.811A>C (p.T271P, p.(Thr271Pro)), FBN2(NM_001999.4):c.811A>C (p.T271P) - FBN2_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.811A>C r.(?) p.(Thr271Pro) Unknown - VUS g.127800432T>G - FBN2(NM_001999.3):c.811A>C (p.T271P, p.(Thr271Pro)), FBN2(NM_001999.4):c.811A>C (p.T271P) - FBN2_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.811A>C r.(?) p.(Thr271Pro) Unknown - VUS g.127800432T>G - FBN2(NM_001999.3):c.811A>C (p.T271P, p.(Thr271Pro)), FBN2(NM_001999.4):c.811A>C (p.T271P) - FBN2_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.826+2T>C r.spl? p.? Unknown - VUS g.127800415A>G - FBN2(NM_001999.4):c.826+2T>C - FBN2_000393 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.826+15T>G r.(=) p.(=) Unknown - likely benign g.127800402A>C - FBN2(NM_001999.4):c.826+15T>G - FBN2_000368 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.826+24A>G r.(=) p.(=) Unknown - likely benign g.127800393T>C - FBN2(NM_001999.4):c.826+24A>G - FBN2_000409 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.826+205G>A r.(=) p.(=) Unknown - likely benign g.127800212C>T - FBN2(NM_001999.4):c.826+205G>A - FBN2_000384 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.827-318A>T r.(=) p.(=) Unknown - likely benign g.127782617T>A - FBN2(NM_001999.4):c.827-318A>T - FBN2_000435 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.827-270G>A r.(=) p.(=) Unknown - likely benign g.127782569C>T - FBN2(NM_001999.4):c.827-270G>A - FBN2_000434 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.827-3C>T r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.829G>A r.(?) p.(Val277Ile) Unknown - VUS g.127782297C>T g.128446604C>T FBN2(NM_001999.3):c.829G>A (p.V277I, p.(Val277Ile)), FBN2(NM_001999.4):c.829G>A (p.V277I) - FBN2_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.829G>A r.(?) p.(Val277Ile) Unknown - likely benign g.127782297C>T g.128446604C>T FBN2(NM_001999.3):c.829G>A (p.V277I, p.(Val277Ile)), FBN2(NM_001999.4):c.829G>A (p.V277I) - FBN2_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.829G>A r.(?) p.(Val277Ile) Unknown - likely benign g.127782297C>T g.128446604C>T FBN2(NM_001999.3):c.829G>A (p.V277I, p.(Val277Ile)), FBN2(NM_001999.4):c.829G>A (p.V277I) - FBN2_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.829G>A r.(?) p.(Val277Ile) Unknown - likely benign g.127782297C>T g.128446604C>T FBN2(NM_001999.3):c.829G>A (p.V277I, p.(Val277Ile)), FBN2(NM_001999.4):c.829G>A (p.V277I) - FBN2_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 7 c.829G>A r.(?) p.(Val277Ile) Unknown - VUS g.127782297C>T g.128446604C>T - - FBN2_000209 - PubMed: Peeters 2021 - - Germline - 3/714 controls - - - DNA SEQ - - Healthy/Control - PubMed: Peeters 2021 analysis 714 healthy controls - - Belgium - - - - - 3 Johan den Dunnen
?/. 7 c.829G>A r.(?) p.(Val277Ile) Unknown - VUS g.127782297C>T g.128446604C>T - - FBN2_000209 - PubMed: Peeters 2021 - - Germline - 1/913 controls - - - DNA SEQ - - Healthy/Control - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - - - - 1 Johan den Dunnen
?/. - c.884C>T r.(?) p.(Thr295Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.910C>T r.(?) p.(Pro304Ser) Unknown - VUS g.127782216G>A g.128446523G>A - - FBN2_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.952+141A>C r.(=) p.(=) Unknown - benign g.127782033T>G g.128446340T>G FBN2(NM_001999.4):c.952+141A>C - FBN2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.952+4177C>T r.(=) p.(=) Unknown - benign g.127777997G>A g.128442304G>A FBN2(NM_001999.4):c.952+4177C>T - FBN2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.953-8T>G r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.953-8T>G r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.953-8T>G r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.953-8T>G r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.957T>C r.(?) p.(Ile319=) Unknown - likely benign g.127744488A>G g.128408795A>G FBN2(NM_001999.4):c.957T>C (p.I319=) - FBN2_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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