Unique variants in the FBLN5 gene

Information The variants shown are described using the NM_006329.3 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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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.? r.(?) p.? - pathogenic g.? - Glu495X - DRD4_000002 - PubMed: Jacobson 2008 - - Unknown - - - - - LOVD
?/. 4 1 c.-414C>T r.(?) p.(=) - VUS g.92413987G>A g.91947643G>A - - FBLN5_000013 1 more item submitted - rs7149187 Germline - 131/347 cases, 135/302 controls, 44/347 cases, 50/302 controls - - - Debasmita P Alone
-?/. 1 1 c.-174del r.spl? p.? - likely benign g.92413747del - 5UTR-174delG - FBLN5_000032 - PubMed: Barbazetto 2007 - - Germline - found in 6/214 cases and 4/184 controls - - - LOVD
-?/. 1 1 c.-139C>G r.spl? p.? - likely benign g.92413712G>C - 5UTR-139C>G - FBLN5_000031 - PubMed: Barbazetto 2007 - - Germline - found in 1/214 cases and 1/182 controls - - - LOVD
-?/. 1 - c.-12C>T r.(?) p.(=) - likely benign g.92413585G>A g.91947241G>A FBLN5(NM_006329.3):c.-12C>T - FBLN5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 1i c.18-28A>G r.spl? p.? - likely benign g.92409333T>C - IVS1-28A>G - FBLN5_000030 - PubMed: Barbazetto 2007 - - Germline - found in 26/213 cases and 22/183 controls - - - LOVD
-?/. 1 2 c.19+26T>A r.spl? p.? - likely benign g.92409278A>T - IVS1+26T>A - FBLN5_000029 - PubMed: Barbazetto 2007 - - Germline - found in 2/213 cases and 1/183 controls - - - LOVD
-?/. 1 3i c.124+25T>C r.spl? p.? - likely benign g.92406884A>G - IVS3+25T>C - FBLN5_000028 - PubMed: Barbazetto 2007 - - Germline - found in 0/214 cases and 1/184 controls - - - LOVD
-?/. 1 3i c.124+71C>T r.spl? p.? - likely benign g.92406838G>A - IVS3+71C>T - FBLN5_000027 - PubMed: Barbazetto 2007 - - Germline - found in 1/214 cases and 0/184 controls - - - LOVD
-?/. 1 3i c.125-32C>T r.spl? p.? - likely benign g.92403577G>A - IVS3-32C>T - FBLN5_000026 - PubMed: Barbazetto 2007 - - Germline - found in 2/214 cases and 2/183 controls - - - LOVD
?/. 2 - c.224T>C r.(?) p.(Val75Ala) - VUS g.92403446A>G g.91937102A>G FBLN5(NM_006329.3):c.224T>C (p.V75A) - FBLN5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/., ?/. 4 - c.268G>A r.(?) p.(Gly90Ser) - likely benign, VUS g.92403402C>T g.91937058C>T FBLN5(NM_006329.3):c.268G>A (p.G90S) - FBLN5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
+/., -?/., ?/. 4 - c.376G>A r.(?) p.(Val126Met) - likely benign, likely pathogenic, VUS g.92403294C>T g.91936950C>T 376C>T, FBLN5(NM_006329.3):c.376G>A (p.V126M, p.(Val126Met)) - FBLN5_000008 VKGL data sharing initiative Nederland PubMed: Duvvari 2016 - rs61734479 CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_AMC
-?/. 1 5i c.502+14G>C r.spl? p.? - likely benign g.92361280C>G - IVS5+14G>C - FBLN5_000025 - PubMed: Barbazetto 2007 - - Germline - found in 1/212 cases and 1/184 controls - - - LOVD
-/. 2 - c.502+15G>C r.(=) p.(=) - benign g.92361279C>G g.91894935C>G FBLN5(NM_006329.3):c.502+15G>C - FBLN5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
+/. 1 6 c.604G>A r.(?) p.(Gly202Arg) - pathogenic g.92357580C>T - 604G>A (G202R) - FBLN5_000024 - PubMed: Barbazetto 2007 - - Germline - found in 1/214 cases and 0/183 controls - - - LOVD
-?/. 1 6i c.620-8T>C r.(=) p.(=) - likely benign g.92353664A>G - IVS6-8T>C - FBLN5_000018 - PubMed: Barbazetto 2007 - - Germline - found in 4/213 cases and 5/184 controls - - - LOVD
+/. 1 7 c.649T>C r.(?) p.(Cys217Arg) - pathogenic g.92353627A>G g.91887283A>G - - FBLN5_000002 not found in 100 controls PubMed: Callewaert 2013, Journal: Callewaert 2013 - - Germline yes - - - - Bert Callewaert
-?/. 1 - c.651C>T r.(?) p.(Cys217=) - likely benign g.92353625G>A - FBLN5(NM_006329.3):c.651C>T (p.C217=) - FBLN5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.676G>A r.(?) p.(Gly226Ser) - VUS g.92353600C>T g.91887256C>T - - FBLN5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/., ?/. 2 - c.799G>A r.(?) p.(Gly267Ser) - likely pathogenic, VUS g.92349361C>T g.91883017C>T FBLN5(NM_006329.3):c.799G>A (p.G267S) - FBLN5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 8i c.863-61C>T r.spl? p.? - likely benign g.92347823G>A - IVS8-61C>T - FBLN5_000023 - PubMed: Barbazetto 2007 - - Germline - found in 0/213 cases and 1/184 controls - - - LOVD
-/. 1 - c.863-13C>T r.(=) p.(=) - benign g.92347775G>A - FBLN5(NM_006329.3):c.863-13C>T - FBLN5_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/., ?/. 9 9 c.945T>C r.(=), r.(?) p.(=), p.(Ile315=) - benign, likely benign, VUS g.92347680A>G g.91881336A>G 945T>C (I315I), FBLN5(NM_006329.3):c.945T>C (p.I315=), g.91870431T>C - FBLN5_000005 associated with pseudoexfoliation (P-value 0.18) and pseudoexfoliation syndrome (P-value 0.21), 1 more item submitted, PubMed: Barbazetto 2007 - rs2430347 CLASSIFICATION record, Germline - 104/302 controls, 139/346 cases, 180/302 controls, 194/346 cases, 1 more item - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC, Debasmita P Alone
?/. 1 - c.949C>A r.(?) p.(Pro317Thr) - VUS g.92347676G>T - FBLN5(NM_006329.3):c.949C>A (p.P317T) - FBLN5_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 2 - c.989+13G>A r.(=) p.(=) - benign g.92347623C>T g.91881279C>T FBLN5(NM_006329.3):c.989+13G>A - FBLN5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_AMC
-/. 1 - c.990-274T>C r.(=) p.(=) - benign g.92344300A>G g.91877956A>G FBLN5(NM_006329.3):c.990-274T>C - FBLN5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1052G>A r.(?) p.(Arg351Gln) - VUS g.92343964C>T - FBLN5(NM_006329.3):c.1052G>A (p.R351Q) - FBLN5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.1087G>A r.(?) p.(Ala363Thr) - pathogenic g.92343929C>T g.91877585C>T - - FBLN5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 10 c.1093A>G r.(?) p.(Ile365Val) - pathogenic (dominant) g.92343923T>C g.91877579T>C - - FBLN5_000020 - PubMed: Birtel 2018 - - Germline - - - - - LOVD
-/., -?/. 3 10 c.1122C>T r.(=), r.(?) p.(=), p.(Tyr374=) - benign, likely benign g.92343894G>A g.91877550G>A 1122C>T (Y374Y), FBLN5(NM_006329.3):c.1122C>T (p.Y374=) - FBLN5_000016 VKGL data sharing initiative Nederland PubMed: Barbazetto 2007 - - CLASSIFICATION record, Germline - found in 8/213 cases and 9/183 controls - - - VKGL-NL_VUmc, VKGL-NL_AMC
+/. 1 10 c.1171G>T r.(?) p.(Glu391*) - pathogenic g.92343845C>A g.91877501C>A - - FBLN5_000001 not found in 100 controls PubMed: Callewaert 2013, Journal: Callewaert 2013 - - Germline yes - - - - Bert Callewaert
?/. 4 10i c.1186-46A>G r.(?) p.(=) - VUS g.92336775T>C g.91870431T>C - - FBLN5_000014 1 more item submitted - rs929608 Germline - 106/354 cases, 147/302 controls, 176/354 cases, 86/302 controls - - - Debasmita P Alone
-?/. 1 - c.1191G>A r.(?) p.(Thr397=) - likely benign g.92336724C>T g.91870380C>T FBLN5(NM_006329.3):c.1191G>A (p.T397=) - FBLN5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1275C>T r.(?) p.(Val425=) - likely benign g.92336640G>A - FBLN5(NM_006329.3):c.1275C>T (p.V425=) - FBLN5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/. 2 - c.1341A>G r.(?) p.(Pro447=) - benign, likely benign g.92336574T>C g.91870230T>C FBLN5(NM_006329.3):c.1341A>G (p.P447=) - FBLN5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
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