Unique variants in the FLNB gene

Information The variants shown are described using the NM_001457.3 transcript reference sequence.

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

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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.-3820_-3819insCT r.(?) p.(=) - - VUS g.57990472_57990473insCT - FLNB(NM_001457.4):c.-3820_-3819insCT - FLNB_000350 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 1 c.-95C>G r.(-95c>g) p.(=) - - likely benign g.57994197C>G g.58008470C>G - - FLNB_000091 - - - - Germline - - - - - Yu Sun
-?/., ?/. 2 - c.107G>A r.(?) p.(Arg36His) - - likely benign, VUS g.57994398G>A g.58008671G>A FLNB(NM_001164317.1):c.107G>A (p.(Arg36His)) - FLNB_000229 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs142568031 CLASSIFICATION record, Germline - 1/2794 individuals - - - VKGL-NL_Leiden, Mohammed Faruq
?/. 1 - c.110T>G r.(?) p.(Ile37Ser) - - VUS g.57994401T>G - FLNB(NM_001457.4):c.110T>G (p.(Ile37Ser)) - FLNB_000351 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.174C>G r.(?) p.(Ser58Arg) - - likely benign g.57994465C>G - FLNB(NM_001457.3):c.174C>G (p.(Ser58Arg)) - FLNB_000325 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.182G>T r.(?) p.(Arg61Leu) - - likely benign g.57994473G>T - FLNB(NM_001457.3):c.182G>T (p.(Arg61Leu)) - FLNB_000326 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.205C>T r.(?) p.(Arg69Trp) - - VUS g.57994496C>T - FLNB(NM_001457.3):c.205C>T (p.(Arg69Trp)), FLNB(NM_001457.4):c.205C>T (p.R69W) - FLNB_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen
-/. 1 - c.249G>A r.(?) p.(Ala83=) - - benign g.57994540G>A g.58008813G>A FLNB(NM_001164317.1):c.249G>A (p.A83=) - FLNB_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.274A>G r.(?) p.(Ile92Val) - - likely benign g.57994565A>G g.58008838A>G FLNB(NM_001164317.1):c.274A>G (p.I92V, p.(Ile92Val)) - FLNB_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-/. 1 - c.292+8C>A r.(=) p.(=) - - benign g.57994591C>A g.58008864C>A FLNB(NM_001164317.2):c.292+8C>A - FLNB_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.292+12G>C r.(=) p.(=) - - likely benign g.57994595G>C g.58008868G>C FLNB(NM_001164317.2):c.292+12G>C - FLNB_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.292+14C>G r.(=) p.(=) - - likely benign g.57994597C>G g.58008870C>G FLNB(NM_001164317.2):c.292+14C>G - FLNB_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 2 1i c.292+136T>A r.(=), r.(?) p.(=) - - likely benign g.57994719T>A g.58008992T>A - - FLNB_000092 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.292+247G>A r.(=) p.(=) - - likely benign g.57994830G>A - FLNB(NM_001457.4):c.292+247G>A - FLNB_000352 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.292+8672C>T r.(=) p.(=) - - likely benign g.58003255C>T - FLNB(NM_001457.4):c.292+8672C>T - FLNB_000353 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.293-20724C>T r.(=) p.(=) - - likely benign g.58042049C>T - FLNB(NM_001457.4):c.293-20724C>T - FLNB_000354 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.362A>T r.(?) p.(Tyr121Phe) - - likely benign g.58062842A>T g.58077115A>T FLNB(NM_001457.4):c.362A>T (p.(Tyr121Phe)) - FLNB_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/? 2 2 c.442T>A r.(?) p.(Trp148Arg) Actin binding domain - pathogenic g.58062922T>A g.58077195T>A - - FLNB_000021 - PubMed: Farrington-Rock 2006 - - Unknown - - - - - Stephen Robertson
+/? 1 2 c.447_458del r.(?) p.(Gln150_Ile153del) Actin binding domain - pathogenic g.58062927_58062938del g.58077200_58077211del - - FLNB_000071 - - - - De novo - - - - - Stephen Robertson
+?/. 1 - c.458T>A r.(?) p.(Ile153Asn) - - likely pathogenic g.58062938T>A g.58077211T>A - - FLNB_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 5 2 c.482T>G r.(?) p.(Phe161Cys) Actin binding domain - pathogenic g.58062962T>G g.58077235T>G - - FLNB_000004 - PubMed: Krakow 2004, PubMed: Krakow 2004, OMIM:var0004 - - De novo, Germline, Unknown - - - - - Stephen Robertson
+/., +/? 2 2 c.488A>C r.(?) p.(Gln163Pro) Actin binding domain - pathogenic, pathogenic (dominant) g.58062968A>C g.58077241A>C NM_001164317.1:c.488A>C:(p.Gln163Pro) - FLNB_000056 - PubMed: Maddirevula 2018 - - Germline, Unknown - - - - - Stephen Robertson
+/? 1 2 c.495G>T r.(?) p.(Trp165Cys) Actin binding domain - pathogenic g.58062975G>T g.58077248G>T - - FLNB_000073 - - - - De novo - - - - - Stephen Robertson
+/? 1 2 c.500A>G r.(?) p.(Asp167Gly) Actin binding domain - pathogenic g.58062980A>G g.58077253A>G - - FLNB_000058 - - - - De novo - - - - - Stephen Robertson
+/? 1 2 c.500A>T r.(?) p.(Asp167Val) Actin binding domain - pathogenic g.58062980A>T g.58077253A>T - - FLNB_000081 - - - - De novo - - - - - Stephen Robertson
+/? 1 2 c.501C>A r.(?) p.(Asp167Glu) Actin binding domain - pathogenic g.58062981C>A g.58077254C>A - - FLNB_000059 - - - - De novo - - - - - Stephen Robertson
+/?, +?/. 12 2 c.502G>A r.(?) p.(Gly168Ser) Actin binding domain - likely pathogenic, pathogenic g.58062982G>A g.58077255G>A FLNB(NM_001164317.2):c.502G>A (p.G168S) - FLNB_000022, FLNB_000099 VKGL data sharing initiative Nederland PubMed: Bicknell 2007, PubMed: Farrington-Rock 2006 - - CLASSIFICATION record, De novo, Germline, Unknown - - - - - VKGL-NL_Utrecht, Stephen Robertson
+/? 1 2 c.502G>T r.(?) p.(Gly168Cys) Actin binding domain - pathogenic g.58062982G>T g.58077255G>T - - FLNB_000082 - - - - Unknown - - - - - Stephen Robertson
+/? 1 2 c.503G>T r.(?) p.(Gly168Val) Actin binding domain - pathogenic g.58062983G>T g.58077256G>T - - FLNB_000074 - - - - De novo - - - - - Stephen Robertson
+/? 2 2 c.512T>A r.(?) p.(Leu171Gln) Actin binding domain - pathogenic g.58062992T>A g.58077265T>A - - FLNB_000023 - PubMed: Farrington-Rock 2006 - - Unknown - - - - - Stephen Robertson
+/? 2 2 c.512T>G r.(?) p.(Leu171Arg) Actin binding domain - pathogenic g.58062992T>G g.58077265T>G - - FLNB_000015 - PubMed: Bicknell 2005, OMIM:var0009 - - De novo, Unknown - - - - - Stephen Robertson
+/. 1 - c.517G>A r.(?) p.(Ala173Thr) - - pathogenic g.58062997G>A - FLNB(NM_001164317.2):c.517G>A (p.A173T) - FLNB_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/? 3 2 c.518C>T r.(?) p.(Ala173Val) Actin binding domain - pathogenic g.58062998C>T g.58077271C>T - - FLNB_000006 - PubMed: Krakow 2004, PubMed: Krakow 2004, OMIM:var0006 - - Unknown - - - - - Stephen Robertson
?/. 1 - c.528C>G r.(?) p.(Asp176Glu) - - VUS g.58063008C>G - FLNB(NM_001457.4):c.528C>G (p.(Asp176Glu)) - FLNB_000311 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.532T>C r.(?) p.(Cys178Arg) - - pathogenic g.58063012T>C - FLNB(NM_001457.4):c.532T>C (p.C178R) - FLNB_000347 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/? 2 3 c.542G>T r.(?) p.(Gly181Val) Actin binding domain - pathogenic g.58064444G>T g.58078717G>T - - FLNB_000028 - PubMed: Farrington-Rock 2006 - - Unknown - - - - - Stephen Robertson
+/? 2 3 c.549C>G r.(?) p.(Cys183Trp) Actin binding domain - pathogenic g.58064451C>G g.58078724C>G - - FLNB_000029 - PubMed: Farrington-Rock 2006 - - Unknown - - - - - Stephen Robertson
+/? 1 3 c.562T>C r.(?) p.(Ser188Pro) Actin binding domain - pathogenic g.58064464T>C g.58078737T>C - - FLNB_000011 - - - - De novo - - - - - Stephen Robertson
+/? 1 3 c.565T>C r.(?) p.(Trp189Arg) Actin binding domain - pathogenic g.58064467T>C g.58078740T>C - - FLNB_000076 - - - - De novo - - - - - Stephen Robertson
+/? 1 3 c.565T>G r.(?) p.(Trp189Gly) Actin binding domain - pathogenic g.58064467T>G g.58078740T>G - - FLNB_000077 - - - - Unknown - - - - - Stephen Robertson
+/?, ?/. 2 3 c.572C>T r.(?) p.(Pro191Leu) Actin binding domain - pathogenic, VUS g.58064474C>T g.58078747C>T FLNB(NM_001164317.1):c.572C>T (p.P191L) - FLNB_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, De novo - - - - - VKGL-NL_Rotterdam, Stephen Robertson
+/? 1 3 c.590A>T r.(?) p.(Asn197Ile) Actin binding domain - pathogenic g.58064492A>T g.58078765A>T - - FLNB_000065 - - - - Unknown - - - - - Stephen Robertson
+/? 2 3 c.602C>T r.(?) p.(Asp201Val) Actin binding domain - pathogenic g.58064504C>T g.58078777C>T - - FLNB_000030 - PubMed: Farrington-Rock 2006 - - Unknown - - - - - Stephen Robertson
+/?, ?/? 7 3 c.604A>G r.(?) p.(M202V), p.(Met202Val) Actin binding domain - pathogenic g.58064506A>G g.58078779A>G - - FLNB_000007, FLNB_000044 - PubMed: Krakow 2004, PubMed: Krakow 2004, OMIM:var0007 - rs28939707 De novo, Unknown - - - - - Stephen Robertson
+/? 1 3 c.605T>C r.(?) p.(Met202Thr) Actin binding domain - pathogenic g.58064507T>C g.58078780T>C - - FLNB_000070 - - - - Unknown - - - - - Stephen Robertson
+/? 2 3 c.608A>C r.(?) p.(Gln203Pro) Actin binding domain - pathogenic g.58064510A>C g.58078783A>C - - FLNB_000031 - PubMed: Farrington-Rock 2006 - - Unknown - - - - - Stephen Robertson
?/. 1 - c.610del r.(?) p.(Gln204Argfs*28) - - VUS g.58064512del - - - FLNB_000303 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 1 3 c.613G>A r.(?) p.(Ala205Thr) Actin binding domain - pathogenic g.58064515G>A g.58078788G>A - - FLNB_000078 - - - - De novo - - - - - Stephen Robertson
+/? 1 3 c.622T>C r.(?) p.(Trp208Arg) Actin binding domain - pathogenic g.58064524T>C g.58078797T>C - - FLNB_000066 - - - - De novo - - - - - Stephen Robertson
+/? 3 3 c.629G>T r.(?) p.(Gly210Val) Actin binding domain - pathogenic g.58064531G>T g.58078804G>T - - FLNB_000032 - PubMed: Bicknell 2007, OMIM:var0011, PubMed: Farrington-Rock 2006 - - Unknown - - - - - Stephen Robertson
+/? 1 4 c.661A>T r.(?) p.(Ile221Phe) Actin binding domain - pathogenic g.58067377A>T g.58081650A>T - - FLNB_000067 - - - - Unknown - - - - - Stephen Robertson
+/? 17 25, 4 c.679G>A r.(?) p.(Glu227Lys) Actin binding domain - pathogenic g.58067395G>A g.58081668G>A - - FLNB_000013 - PubMed: Bicknell 2007, PubMed: Krakow 2004 - - Germline, Unknown - - - - - Stephen Robertson
+/? 1 4 c.685T>C r.(?) p.(Ser229Pro) Actin binding domain - pathogenic g.58067401T>C g.58081674T>C - - FLNB_000068 - - - - Unknown - - - - - Stephen Robertson
?/? 1 4 c.698A>G r.(?) p.(Tyr233Cys) - - pathogenic g.58067414A>G g.58081687A>G - - FLNB_000085 This is a mosaic change found to be present at +- 10% in the patient somatic tissues - - - Somatic - - - - - Nils Koelling
+/? 2 4 c.700C>G r.(?) p.(Leu234Val) Actin binding domain - pathogenic g.58067416C>G g.58081689C>G - - FLNB_000037 - PubMed: Bicknell 2007 - - De novo, Unknown - - - - - Stephen Robertson
+/? 2 4 c.703T>C r.(?) p.(Ser235Pro) Actin binding domain - pathogenic g.58067419T>C g.58081692T>C - - FLNB_000016 - PubMed: Bicknell 2005, OMIM:var0010 - - Unknown - - - - - Stephen Robertson
?/. 1 - c.755T>C r.(?) p.(Leu252Pro) - - VUS g.58067471T>C - FLNB(NM_001457.4):c.755T>C (p.(Leu252Pro)) - FLNB_000355 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.761C>T r.(?) p.(Pro254Leu) - - VUS g.58067477C>T - - - FLNB_000304 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.792C>T r.(?) p.(Ile264=) - - benign g.58080567C>T g.58094840C>T FLNB(NM_001164317.2):c.792C>T (p.I264=) - FLNB_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 3 - c.808A>G r.(?) p.(Met270Val) - - likely benign g.58080583A>G g.58094856A>G 1 more item - FLNB_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 - c.809T>C r.(?) p.(Met270Thr) - - VUS g.58080584T>C - FLNB(NM_001457.4):c.809T>C (p.(Met270Thr)) - FLNB_000356 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.827A>G r.(?) p.(Lys276Arg) - - VUS g.58080602A>G g.58094875A>G - - FLNB_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.865G>A r.(?) p.(Val289Met) - - likely benign g.58080640G>A - FLNB(NM_001457.3):c.865G>A (p.(Val289Met)) - FLNB_000327 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.927T>C r.(?) p.(Ser309=) - - benign g.58081888T>C g.58096161T>C FLNB(NM_001164317.2):c.927T>C (p.S309=) - FLNB_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/? 2 7 c.1081G>A r.(?) p.(Gly361Ser) Repeat 2 - pathogenic g.58083638G>A g.58097911G>A - - FLNB_000038 - PubMed: Bicknell 2007 - - De novo, Unknown - - - - - Stephen Robertson
+/? 1 7 c.1081G>T r.(?) p.(Gly361Cys) Repeat 2 - pathogenic g.58083638G>T g.58097911G>T - - FLNB_000046 - - - - Unknown - - - - - Stephen Robertson
+/? 2 7 c.1082G>A r.(?) p.(Gly361Asp) Repeat 2 - pathogenic g.58083639G>A g.58097912G>A - - FLNB_000047 - - - - Unknown - - - - - Stephen Robertson
+/? 1 7 c.1087G>A r.(?) p.(Gly363Arg) Repeat 2 - pathogenic g.58083644G>A g.58097917G>A - - FLNB_000079 - - - - De novo - - - - - Stephen Robertson
+/? 2 7 c.1088G>A r.(?) p.(Gly363Glu) Repeat 2 - pathogenic g.58083645G>A g.58097918G>A - - FLNB_000039 - PubMed: Bicknell 2007 - - De novo, Unknown - - - - - Stephen Robertson
+?/. 1 7 c.1088G>T r.(?) p.(Gly363Val) - - likely pathogenic g.58083645G>T g.58097918G>T - - FLNB_000093 - - - - De novo - - - - - Cynthia Silveira
-?/. 1 - c.1110C>T r.(?) p.(Ile370=) - - likely benign g.58083667C>T g.58097940C>T FLNB(NM_001164317.1):c.1110C>T (p.I370=) - FLNB_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.1203C>T r.(?) p.(Thr401=) - - likely benign g.58084493C>T g.58098766C>T FLNB(NM_001164317.1):c.1203C>T (p.T401=), FLNB(NM_001164317.2):c.1203C>T (p.T401=) - FLNB_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 - c.1249G>A r.(?) p.(Val417Met) - - VUS g.58084539G>A - FLNB(NM_001164317.1):c.1249G>A (p.(Val417Met)) - FLNB_000266 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1399G>A r.(?) p.(Val467Ile) - - likely benign g.58087983G>A - FLNB(NM_001164317.1):c.1399G>A (p.(Val467Ile)) - FLNB_000289 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1403G>A r.(?) p.(Arg468His) - - VUS g.58087987G>A g.58102260G>A FLNB(NM_001164317.1):c.1403G>A (p.(Arg468His)) - FLNB_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1408C>T r.(?) p.(Arg470Trp) - - VUS g.58087992C>T - FLNB(NM_001164317.1):c.1408C>T (p.(Arg470Trp)) - FLNB_000290 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1417A>C r.(?) p.(Thr473Pro) - - VUS g.58088001A>C - FLNB(NM_001457.4):c.1417A>C (p.T473P) - FLNB_000257 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1486G>T r.(?) p.(Gly496Cys) - - VUS g.58089688G>T g.58103961G>T - - FLNB_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 3 - c.1559C>T r.(?) p.(Pro520Leu) - - likely benign, VUS g.58089761C>T g.58104034C>T 1 more item - FLNB_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 - c.1588G>T r.(?) p.(Gly530Trp) - - VUS g.58089790G>T g.58104063G>T FLNB(NM_001164317.1):c.1588G>T (p.(Gly530Trp)) - FLNB_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1592G>A r.(?) p.(Gly531Glu) - - VUS g.58089794G>A - FLNB(NM_001457.3):c.1592G>A (p.(Gly531Glu)) - FLNB_000328 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.1601T>G r.(?) p.(Ile534Ser) - - likely pathogenic g.58089803T>G g.58104076T>G - - FLNB_000371 - PubMed: Plachy 2019 - - Germline - - - - - Johan den Dunnen
-/. 2 - c.1611-4G>A r.spl? p.? - - benign g.58090803G>A g.58105076G>A FLNB(NM_001164317.2):c.1611-4G>A, FLNB(NM_001457.4):c.1611-4G>A - FLNB_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
?/. 2 - c.1640C>T r.(?) p.(Ala547Val) - - VUS g.58090836C>T - FLNB(NM_001164317.1):c.1640C>T (p.A547V), FLNB(NM_001457.4):c.1640C>T (p.(Ala547Val)) - FLNB_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.1658G>A r.(?) p.(Arg553His) - - VUS g.58090854G>A - FLNB(NM_001457.4):c.1658G>A (p.(Arg553His)) - FLNB_000357 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1696C>T r.(?) p.(Arg566Trp) - - VUS g.58090892C>T - FLNB(NM_001457.3):c.1696C>T (p.(Arg566Trp)) - FLNB_000329 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 4 - c.1697G>A r.(?) p.(Arg566Gln) - - likely benign, VUS g.58090893G>A g.58105166G>A 1 more item - FLNB_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
?/. 1 - c.1700C>T r.(?) p.(Ser567Leu) - - VUS g.58090896C>T - FLNB(NM_001457.4):c.1700C>T (p.(Ser567Leu)) - FLNB_000358 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.1740dup r.(?) p.(Ser581Valfs*7) - - pathogenic g.58090936dup - FLNB(NM_001164317.2):c.1740dupG (p.S581Vfs*7) - FLNB_000299 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.1747+115G>C r.(=) p.(=) - - likely benign g.58091058G>C g.58105331G>C FLNB(NM_001164317.2):c.1747+115G>C - FLNB_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.1748-304_1748-303del r.(=) p.(=) - - benign g.58092103_58092104del g.58106376_58106377del FLNB(NM_001164317.2):c.1748-304_1748-303delAT - FLNB_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 2 - c.1869C>T r.(?) p.(Asp623=) - - benign g.58092528C>T g.58106801C>T FLNB(NM_001164317.2):c.1869C>T (p.D623=), FLNB(NM_001457.4):c.1869C>T (p.(Asp623=)) - FLNB_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
-?/., ?/. 2 - c.1873G>A r.(?) p.(Glu625Lys) - - likely benign, VUS g.58092532G>A - FLNB(NM_001164317.1):c.1873G>A (p.(Glu625Lys)), FLNB(NM_001457.4):c.1873G>A (p.E625K) - FLNB_000291 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen
-?/. 1 - c.1919C>T r.(?) p.(Thr640Met) - - likely benign g.58092578C>T - FLNB(NM_001457.3):c.1919C>T (p.(Thr640Met)) - FLNB_000330 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/., +/? 12 13 c.1945C>T r.(?) p.(Arg649*) Repeat 5 - pathogenic, pathogenic (recessive) g.58094188C>T g.58108461C>T - - FLNB_000012 - PubMed: Krakow 2004 - - Germline, Unknown - - - - - Stephen Robertson, Dan Feng Fang
-?/. 1 - c.1998C>T r.(?) p.(Ala666=) - - likely benign g.58094241C>T g.58108514C>T FLNB(NM_001164317.2):c.1998C>T (p.A666=) - FLNB_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.2037C>T r.(?) p.(Pro679=) - - likely benign g.58094280C>T - FLNB(NM_001164317.2):c.2037C>T (p.P679=) - FLNB_000244 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/? 1 13i c.2055+1G>A r.2055_2056ins[a;2055+2_2055+27] p.Gln685_Asp686ins9 Repeat 5 - pathogenic g.58094299G>A g.58108572G>A - - FLNB_000080 - - - - Unknown - - - - - Stephen Robertson
-?/., ?/. 4 - c.2059G>A r.(?) p.(Gly687Arg) - - likely benign, VUS g.58094909G>A g.58109182G>A 1 more item - FLNB_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
?/. 1 - c.2095C>T r.(?) p.(Arg699Trp) - - VUS g.58094945C>T - FLNB(NM_001164317.1):c.2095C>T (p.R699W) - FLNB_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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