Unique variants in the FLNA gene

Information The variants shown are described using the NM_001110556.1 transcript reference sequence.

473 entries on 5 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     
?/. 2 12, 32 c.? r.? p.? - VUS g.? - c.1807G>A p.Gly603Arg), c.5308G>C (Val1770Leu) - USP9X_000005 - 0, PubMed: Ganapathy 2019 - rs200116438 Germline - - - - - Johan den Dunnen
./. 1 - c.-1119672_*11376dup - - - pathogenic g.153565841_154722429dup g.154337626_155494214dup - - DKC1_000000 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
./. 1 - c.-258351_*6809dup r.0? p.0? - pathogenic g.153570408_153861108dup g.154342193_154632893dup GDI1 - FLNA_000307 - PubMed: Hu 2016 - - Germline - - - - - Johan den Dunnen
+/. 1 _1_26i c.(?_-24136)_(4474+11_?)dup r.(?) p.? ACMG pathogenic g.(?_153587341)_(153626893_?)dup - hg38 Xq28(153,587,341-153,626,893)x3 FLNA_000305 - PubMed: Tumienė 2018 - - De novo - - - - - Johan den Dunnen
./. 1 - c.-7149_*866411dup r.0? p.0? - pathogenic g.152710806_153609906dup - MECP2 - MECP2_002820 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
-?/. 1 - c.-5186C>T r.(?) p.(=) - likely benign g.153607943G>A g.154379583G>A EMD(NM_000117.2):c.82+17G>A - EMD_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.-5174C>A r.(?) p.(=) - likely benign g.153607931G>T g.154379571G>T - - FLNA_000385 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-5158C>G r.(?) p.(=) - VUS g.153607915G>C g.154379555G>C - - FLNA_000384 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.-5153C>A r.(?) p.(=) - benign g.153607910G>T g.154379550G>T EMD(NM_000117.2):c.66G>T (p.P22=) - FLNA_000383 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.-5117G>C r.(?) p.(=) - likely benign g.153607874C>G g.154379514C>G - - FLNA_000382 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 _1i_13i_ c.(-5087_-116-1)_(2022+1_2137-1)del r.0? p.0? - pathogenic g.(153592534_153592893)_(153599730_153607844)del - - - FLNA_000118 de novo deletion FLNA exon 2, 5, 13 with exon 15 and EMD gene normal PubMed: Reinstein 2013, Journal: Reinstein 2013 - - De novo - - - - - Johan den Dunnen
+/. 1 _1_48_ c.(?_-249)_(*317_?)dup r.? p.? - pathogenic g.153576900_153603006dup - - - FLNA_000012 1 more item PubMed: Fox 1998, PubMed: Fink 1997 - - Germline - - - - - Yu Sun
-/. 1 _1_48_ c.(?_-249)_(*317_?)inv r.(=) p.(=) - benign g.(153564000_153607597)_(153609883_153624000)inv - - - EMD_000089 48kb inversion FLNA/EMD PubMed: Small 1997 - - Germline - 19/106 controls - - - Johan den Dunnen
-?/. 1 - c.-116-13G>C r.(=) p.(=) - likely benign g.153599742C>G g.154371374C>G FLNA(NM_001110556.2):c.-116-13G>C - FLNA_000433 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.-116-5C>T r.spl? p.? - likely benign g.153599734G>A g.154371366G>A FLNA(NM_001110556.2):c.-116-5C>T - FLNA_000381 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.13C>T r.(?) p.(His5Tyr) - likely benign g.153599601G>A g.154371233G>A FLNA(NM_001110556.2):c.13C>T (p.H5Y) - FLNA_000380 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/., ?/. 4 - c.62_64dup r.(?) p.(Val21dup) - benign, likely benign, VUS g.153599552_153599554dup g.154371184_154371186dup 1 more item - FLNA_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/. 1 - c.63C>T r.(?) p.(Val21=) - likely benign g.153599551G>A g.154371183G>A FLNA(NM_001110556.2):c.63C>T (p.V21=) - FLNA_000379 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
./. 1 - c.64_66dup r.(?) p.(Asp22dup) - likely pathogenic g.153599549_153599551dup g.154371181_154371183dup NM_001456.3(FLNA):c.64_66dup p.(Asp22dup) - FLNA_000122 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - Marjolijn JL Ligtenberg
-?/. 1 - c.65A>T r.(?) p.(Asp22Val) - likely benign g.153599549T>A g.154371181T>A FLNA(NM_001110556.2):c.65A>T (p.D22V) - FLNA_000280 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 7 2 c.67_68del r.(?) p.(Thr23Alafs*82) - pathogenic g.153599548_153599549del g.154371180_154371181del 65_66delAC - FLNA_000053 absent in 164 control X chromosomes PubMed: Gargiulo 2007, OMIM:var0025 - - Germline - - - - - Yu Sun
?/. 1 - c.70C>T r.(?) p.(Arg24Trp) - VUS g.153599544G>A g.154371176G>A FLNA(NM_001110556.2):c.70C>T (p.R24W) - FLNA_000278 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.77C>T r.(?) p.(Ala26Val) - VUS g.153599537G>A g.154371169G>A FLNA(NM_001110556.2):c.77C>T (p.A26V) - FLNA_000277 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.81G>T r.(?) p.(Glu27Asp) - VUS g.153599533C>A g.154371165C>A FLNA(NM_001110556.1):c.81G>T (p.(Glu27Asp)) - FLNA_000432 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.83T>C r.(?) p.(Met28Thr) - VUS g.153599531A>G g.154371163A>G FLNA(NM_001110556.1):c.83T>C (p.(Met28Thr)) - FLNA_000276 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.85C>A r.(?) p.(Pro29Thr) - VUS g.153599529G>T g.154371161G>T FLNA(NM_001110556.1):c.85C>A (p.(Pro29Thr)) - FLNA_000431 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.85C>G r.(?) p.(Pro29Ala) - VUS g.153599529G>C g.154371161G>C FLNA(NM_001110556.1):c.85C>G (p.(Pro29Ala)) - FLNA_000275 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.85_86insTA r.(?) p.(Pro29LeufsTer30) - VUS g.153599528_153599529insTA g.154371160_154371161insTA FLNA(NM_001110556.1):c.85_86insTA (p.(Pro29LeufsTer30)) - FLNA_000430 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.88G>A r.(?) p.(Ala30Thr) - VUS g.153599526C>T g.154371158C>T FLNA(NM_001110556.1):c.88G>A (p.(Ala30Thr)) - FLNA_000274 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.89_90insGAC r.(?) p.(Thr31dup) - VUS g.153599525_153599526insTCG g.154371157_154371158insTCG FLNA(NM_001110556.1):c.89_90insGAC (p.(Ala30_Thr31insThr)) - FLNA_000429 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 2 c.116C>G r.(?) p.(Ala39Gly) - pathogenic g.153599498G>C g.154371130G>C - - FLNA_000036 not in236 control chromosomes PubMed: Sheen 2005, OMIM:var0019 - - Germline - - - - - Yu Sun
?/. 1 - c.152G>C r.(?) p.(Arg51Pro) - VUS g.153599462C>G g.154371094C>G - - FLNA_000448 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.169del r.(?) p.(Leu57Ter) - pathogenic g.153599446del g.154371078del FLNA(NM_001110556.2):c.169delC (p.L57*) - FLNA_000377 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.237G>C r.(?) p.(Ala79=) - likely benign g.153599377C>G g.154371009C>G FLNA(NM_001110556.2):c.237G>C (p.A79=) - FLNA_000376 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/., +?/. 2 2 c.238C>G r.(?) p.(Leu80Val) - likely pathogenic, pathogenic g.153599376G>C g.154371008G>C FLNA(NM_001110556.2):c.238C>G (p.L80V) - FLNA_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, De novo - - - - - VKGL-NL_Rotterdam, Elyssa Cannaerts
+/. 4 2 c.245A>T r.(?) p.(Glu82Val) - pathogenic g.153599369T>A g.154371001T>A - - FLNA_000019 not in 100 control chromosomes PubMed: Moro 2002, {OMIM300017.0008} - rs28935169 Germline - - - - - Yu Sun
+/. 1 2 c.287_291del r.(?) p.(Arg96Hisfs*8) - pathogenic g.153599324_153599328del g.154370956_154370960del - - FLNA_000011 RNA blood X-inactivation random PubMed: Fox 1998, OMIM:var0005 - - Germline - - - - - Yu Sun
+/. 1 - c.306G>A r.(?) p.(Met102Ile) - pathogenic g.153599308C>T g.154370940C>T FLNA(NM_001110556.2):c.306G>A (p.M102I) - FLNA_000273 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 2 c.356T>A r.(?) p.(Ile119Asn) - pathogenic g.153599258A>T g.154370890A>T - - FLNA_000058 not in 150 control chromosomes PubMed: Sole 2009 - - Germline - - - - - Yu Sun
+/. 2 2 c.365T>G r.(?) p.(Val122Gly) - pathogenic g.153599249A>C g.154370881A>C - - FLNA_000067 not in 150 control chromosomes PubMed: Sole 2009 - - Germline - - - - - Yu Sun
+/. 1 2 c.368C>A r.(?) p.(Ser123Tyr) - pathogenic g.153599246G>T g.154370878G>T - - FLNA_000064 not in 150 control chromosomes PubMed: Sole 2009 - - Germline - - - - - Yu Sun
+/. 1 2i c.373+1G>A r.spl? p.? - pathogenic g.153599240C>T g.154370872C>T IVS2+2G>A - FLNA_000010 - PubMed: Fox 1998, OMIM:var0004 - - Germline - - - - - Yu Sun
-/. 2 - c.374-19G>A r.(=) p.(=) - benign g.153596477C>T g.154368109C>T FLNA(NM_001110556.2):c.374-19G>A - FLNA_000272 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
+/., +?/. 3 3 c.381G>C r.(?) p.(Lys127Asn) - likely pathogenic, pathogenic g.153596451C>G g.154368083C>G - - FLNA_000111 mother carrier of de novo variant PubMed: Reinstein 2013, PubMed: Reinstein 2013, Journal: Reinstein 2013 - - De novo, Germline - - - - - Johan den Dunnen, M Walsh
+/. 3 3 c.383C>T r.(?) p.(Ala128Val) - pathogenic g.153596449G>A g.154368081G>A - - FLNA_000038 not in 184 control chromosomes PubMed: Gomez-Garre 2006, OMIM:var0021 - - Germline - - - - - Yu Sun
+/. 1 3 c.387C>G r.(?) p.(Ile129Met) - pathogenic g.153596445G>C g.154368077G>C - - FLNA_000114 - PubMed: Reinstein 2013, Journal: Reinstein 2013 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.387C>T r.(?) p.(Ile129=) - likely benign g.153596445G>A g.154368077G>A FLNA(NM_001110556.2):c.387C>T (p.I129=) - FLNA_000271 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 3 c.508C>T r.(?) p.(Gln170*) ACMG pathogenic g.153596324G>A g.154367956G>A - - FLNA_000449 - - - - Germline yes - - - - Laura Tanner
+/. 1 3 c.509A>C r.(?) p.(Gln170Pro) - pathogenic g.153596323T>G g.154367955T>G - - FLNA_000076 - PubMed: Robertson 2003 - - Germline - 1/30 - - - Yu Sun
+/. 1 3 c.514C>T r.(?) p.(Leu172Phe) - pathogenic g.153596318G>A g.154367950G>A - - FLNA_000077 - PubMed: Robertson 2003 - - Germline - 1/30 - - - Yu Sun
-?/. 2 - c.543G>A r.(?) p.(Pro181=) - likely benign g.153596289C>T g.154367921C>T FLNA(NM_001110556.2):c.543G>A (p.P181=), FLNA(NM_001456.3):c.543G>A (p.P181=) - FLNA_000375 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/. 7 3 c.544C>T r.(?) p.(Gln182*) - pathogenic g.153596288G>A g.154367920G>A - - FLNA_000007 RNA blood X-inactivation preferentially expressed allele, RNA blood X-inactivation uninformative, 1 more item PubMed: Fox 1998, OMIM:var0001 - - De novo, Germline - - - - - Yu Sun
-?/. 1 - c.546G>C r.(?) p.(Gln182His) - likely benign g.153596286C>G g.154367918C>G FLNA(NM_001110556.2):c.546G>C (p.Q182H) - FLNA_000270 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 3 c.560A>G r.(?) p.(Asn187Ser) - likely pathogenic g.153596272T>C g.154367904T>C 153596304T>C - FLNA_000094 - - - - Germline yes - - - - Sébastien Moutton
+/. 1 3 c.586C>G r.(?) p.(Arg196Gly) - pathogenic g.153596246G>C g.154367878G>C - - FLNA_000075 - PubMed: Robertson 2003 - - Germline - - - - - Yu Sun
+/., ?/. 2 3 c.586C>T r.(?) p.(Arg196Trp) - pathogenic, VUS g.153596246G>A g.154367878G>A - - FLNA_000074 conflicting interpretations of pathogenicity; 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020, PubMed: Robertson 2003, {OMIM300017.0026} - rs137853317 Germline - 6/2764 individuals - - - Yu Sun, Mohammed Faruq
+/. 1 3 c.598G>T r.(?) p.(Ala200Ser) - pathogenic g.153596234C>A g.154367866C>A - - FLNA_000071 - PubMed: Robertson 2003 - - Germline - - - - - Yu Sun
+/. 1 3 c.607G>T r.(?) p.(Asp203Tyr) - pathogenic g.153596225C>A g.154367857C>A - - FLNA_000037 - PubMed: Hidalgo-Bravo 2005, OMIM:var0020 - - De novo - - - - - Yu Sun
+/. 6 3 c.620C>T r.(?) p.(Pro207Leu) - likely pathogenic, pathogenic g.153596212G>A g.154367844G>A - - FLNA_000021 de novo, in patient PubMed: Robertson 2003, PubMed: Robertson 2006, PubMed: Robertson 2006, {OMIM300017.0009} - rs28935469 De novo, Germline yes - - - - Yu Sun, Sébastien Moutton
+/. 1 3i c.623-3C>G r.spl? p.? - pathogenic g.153596109G>C g.154367741G>C IVS3-3C>G - FLNA_000009 de novo, in patient PubMed: Fox 1998, OMIM:var0003 - - De novo - - - - - Yu Sun
+/. 3 4 c.629G>T r.(?) p.(Cys210Phe) - pathogenic g.153596100C>A g.154367732C>A - - FLNA_000054 - PubMed: Marino-Enriquez 2007 - - De novo, Germline - - - - - Yu Sun
+/. 1 - c.648G>A r.(?) p.(Trp216Ter) - pathogenic g.153596081C>T g.154367713C>T - - FLNA_000428 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 2 4 c.651C>T r.(=), r.(?) p.(=), p.(Asp217=) - likely benign, VUS g.153596078G>A g.154367710G>A FLNA(NM_001110556.2):c.651C>T (p.D217=) - FLNA_000013 VKGL data sharing initiative Nederland - - rs34644500 CLASSIFICATION record, Germline - - - - - Yu Sun, VKGL-NL_Rotterdam
?/. 1 - c.656G>A r.(?) p.(Ser219Asn) - VUS g.153596073C>T g.154367705C>T - - FLNA_000304 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.663C>T r.(?) p.(Pro221=) - likely benign g.153596066G>A g.154367698G>A FLNA(NM_001110556.2):c.663C>T (p.P221=) - FLNA_000269 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.696G>A r.(?) p.(Ala232=) - likely benign g.153596033C>T g.154367665C>T FLNA(NM_001110556.2):c.696G>A (p.A232=) - FLNA_000374 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.705G>C r.(?) p.(Trp235Cys) - VUS g.153596024C>G g.154367656C>G - - FLNA_000373 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.720+1G>A r.spl? p.? - pathogenic g.153596008C>T g.154367640C>T FLNA(NM_001110556.2):c.720+1G>A - FLNA_000372 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 4i c.720+2T>C r.spl? p.? - pathogenic g.153596007A>G g.154367639A>G IVS4+2T>C - FLNA_000008 RNA blood X-inactivation random PubMed: Fox 1998, OMIM:var0002 - - De novo, Germline - - - - - Yu Sun
-?/. 1 - c.732C>T r.(?) p.(Pro244=) - likely benign g.153595901G>A g.154367533G>A FLNA(NM_001110556.2):c.732C>T (p.P244=) - FLNA_000371 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 2 5 c.733G>A r.(?) p.(Glu245Lys) - pathogenic g.153595900C>T g.154367532C>T - - FLNA_000044 not in 100 control chromosomes PubMed: Robertson 2006 - - Germline - - - - - Yu Sun
-?/. 1 - c.753C>T r.(?) p.(Asn251=) - likely benign g.153595880G>A - FLNA(NM_001110556.2):c.753C>T (p.N251=) - FLNA_000458 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 4 5 c.759C>G r.(?) p.(Asp253Glu) - pathogenic g.153595874G>C g.154367506G>C - - FLNA_000045 not in 100 control chromosomes PubMed: Robertson 2006 - - Germline - - - - - Yu Sun
+/., +?/. 7 5 c.760G>A r.(?) p.(Glu254Lys) - likely pathogenic, pathogenic g.153595873C>T g.154367505C>T FLNA(NM_001110556.2):c.760G>A (p.E254K) - FLNA_000022 variant likely de novo, VKGL data sharing initiative Nederland PubMed: Fennell 2015, Journal: Fennell 2015, PubMed: Robertson 2003, {OMIM300017.0010} - rs28935470 CLASSIFICATION record, Germline, Unknown - - - - - Yu Sun, Stephen Robertson, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+?/. 1 5 c.799G>A r.(?) p.(Ala267Thr) - likely pathogenic g.153595834C>T g.154367466C>T - - FLNA_000091 - - - - Germline - - - - - Sébastien Moutton
+/. 1 5 c.817G>C r.(?) p.(Ala273Pro) - pathogenic g.153595816C>G g.154367448C>G - - FLNA_000072 - PubMed: Robertson 2003 - - Germline - - - - - Yu Sun
+/. 2 5 c.853C>T r.(?) p.(Arg285Cys) - pathogenic g.153595780G>A g.154367412G>A - - FLNA_000117 FLNA protein expression in transformed cell line 0.30 compared to control PubMed: Reinstein 2013, Journal: Reinstein 2013 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.854G>A r.(?) p.(Arg285His) - likely pathogenic g.153595779C>T g.154367411C>T - - FLNA_000303 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.861C>T r.(?) p.(Tyr287=) - likely benign g.153595772G>A g.154367404G>A FLNA(NM_001110556.2):c.861C>T (p.Y287=) - FLNA_000427 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 5 c.862G>A r.(?) p.(Gly288Arg) - pathogenic g.153595771C>T g.154367403C>T - - FLNA_000050 not in 500 control chromosomes (white/African origin) PubMed: Kyndt 2007 - - Germline - - - - - Yu Sun
-/. 1 - c.869-28C>G r.(=) p.(=) - benign g.153595246G>C g.154366878G>C FLNA(NM_001110556.2):c.869-28C>G - FLNA_000268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.869-7C>T r.(=) p.(=) - benign g.153595225G>A g.154366857G>A FLNA(NM_001110556.2):c.869-7C>T - FLNA_000267 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.869-3C>T r.spl? p.? - likely benign g.153595221G>A g.154366853G>A FLNA(NM_001110556.2):c.869-3C>T - FLNA_000266 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 6 c.885_892del r.(?), r.0 p.(Asn296Glufs*38), p.0 - pathogenic g.153595197_153595204del g.154366829_154366836del 883_880del8 (incorrect) - FLNA_000112 de novo variant (inherited by daughter); random X-inactivation (57:33) PubMed: Reinstein 2013, Journal: Reinstein 2013 - - De novo, Germline -, yes - - - - Johan den Dunnen
+?/. 1 - c.890T>G r.(?) p.(Met297Arg) - likely pathogenic g.153595197A>C g.154366829A>C - - FLNA_000370 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 2 - c.901C>T r.(?) p.(Arg301Trp) - likely benign, VUS g.153595186G>A - FLNA(NM_001110556.2):c.901C>T (p.R301W) - FLNA_000265 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.915T>C r.(?) p.(Thr305=) - likely benign g.153595172A>G g.154366804A>G FLNA(NM_001110556.2):c.915T>C (p.T305=) - FLNA_000264 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.926G>T r.(?) p.(Arg309Ile) - likely benign g.153595161C>A g.154366793C>A FLNA(NM_001110556.2):c.926G>T (p.R309I) - FLNA_000263 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 6 c.957C>A r.(?) p.(Tyr319*) - pathogenic g.153595130G>T g.154366762G>T - - FLNA_000060 not in 150 control chromosomes PubMed: Sole 2009 - - Germline - - - - - Yu Sun
-?/., ?/. 2 - c.958G>A r.(?) p.(Val320Met) - likely benign, VUS g.153595129C>T g.154366761C>T FLNA(NM_001110556.1):c.958G>A (p.(Val320Met)), FLNA(NM_001110556.2):c.958G>A (p.V320M) - FLNA_000262 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.963G>A r.(?) p.(Glu321=) - likely benign g.153595124C>T g.154366756C>T FLNA(NM_001110556.2):c.963G>A (p.E321=) - FLNA_000426 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 6 c.987G>C r.(?) p.(Glu329Asp) - pathogenic g.153595100C>G g.154366732C>G - - FLNA_000055 not found in 50 controls PubMed: Simone 2008 - - Germline - - - - - Yu Sun
?/. 1 - c.1019G>A r.(?) p.(Arg340His) - VUS g.153594976C>T g.154366608C>T FLNA(NM_001110556.2):c.1019G>A (p.R340H) - FLNA_000425 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 3 - c.1029C>T r.(?) p.(Ser343=) - likely benign g.153594966G>A g.154366598G>A FLNA(NM_001110556.2):c.1029C>T (p.S343=) - FLNA_000261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/. 3 - c.1044C>T r.(?) p.(Pro348=) - likely benign g.153594951G>A g.154366583G>A FLNA(NM_001110556.2):c.1044C>T (p.P348=) - FLNA_000260 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc
+?/. 1 - c.1045G>T r.(?) p.(Glu349*) - likely pathogenic g.153594950C>A g.154366582C>A - - FLNA_000437 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs370490152 Germline - 1/2794 individuals - - - Mohammed Faruq
+/. 1 7 c.1054G>T r.(?) p.(Gly352Trp) - pathogenic g.153594941C>A g.154366573C>A - - FLNA_000105 - PubMed: Foley 2010 - - De novo - - - - - Johan den Dunnen
+/. 1 - c.1100del r.(?) p.(Lys367ArgfsTer18) - pathogenic g.153594805del g.154366437del FLNA(NM_001110556.2):c.1100delA (p.K367Rfs*18) - FLNA_000259 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1111G>A r.(?) p.(Glu371Lys) - VUS g.153594793C>T g.154366425C>T FLNA(NM_001110556.2):c.1111G>A (p.E371K) - FLNA_000258 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1133_1134del r.(?) p.(Gln378ArgfsTer2) - pathogenic g.153594770_153594771del g.154366402_154366403del FLNA(NM_001110556.2):c.1133_1134delAG (p.Q378Rfs*2) - FLNA_000257 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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When using this database please refer to Sun et al. (2010), Terminal Osseous Dysplasia is caused by a single recurrent mutation in the FLNA gene. Am.J.Hum.Genet. 87: 146-153.