FLNB filamin B

Canonical transcript: NM_001457

227 unique variant annotations were identified in 149 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
3-57994359-CA-AC c.68_69delinsAC p.Thr23Asn Missense 1/46 - 1
3-57994373-GA-AG c.82_83delinsAG p.Glu28Arg Missense 1/46 - 1
3-57994479-A-G c.188A>G p.Tyr63Cys Missense 1/46 - 1
3-57994538-G-A c.247G>A p.Ala83Thr Missense 1/46 - 1
3-57994561-G-C c.270G>C p.Glu90Asp Missense 1/46 - 1
3-57994561-G-T c.270G>T p.Glu90Asp Missense 1/46 - 1
3-57998986-C-T c.292+4403C>T - IntronicSNV - 1/45 2
3-58006266-G-T c.292+11683G>T - IntronicSNV - 1/45 5
3-58006413-A-C c.292+11830A>C - IntronicSNV - 1/45 1
3-58006413-A-G c.292+11830A>G - IntronicSNV - 1/45 1
3-58006413-A-T c.292+11830A>T - IntronicSNV - 1/45 1
3-58006752-C-T c.292+12169C>T - IntronicSNV - 1/45 1
3-58009259-G-C c.292+14676G>C - IntronicSNV - 1/45 1
3-58009259-G-T c.292+14676G>T - IntronicSNV - 1/45 1
3-58012348-G-A c.292+17765G>A - IntronicSNV - 1/45 1
3-58013573-C-T c.292+18990C>T - IntronicSNV - 1/45 6
3-58018107-G-C c.292+23524G>C - IntronicSNV - 1/45 1
3-58018879-C-T c.292+24296C>T - IntronicSNV - 1/45 1
3-58020826-T-A c.292+26243T>A - IntronicSNV - 1/45 2
3-58025903-C-T c.292+31320C>T - IntronicSNV - 1/45 3
3-58026200-G-A c.292+31617G>A - IntronicSNV - 1/45 1
3-58026502-G-A c.292+31919G>A - IntronicSNV - 1/45 1
3-58027197-A-G c.292+32614A>G - IntronicSNV - 1/45 2
3-58035497-G-A c.293-27276G>A - IntronicSNV - 1/45 3
3-58036651-T-C c.293-26122T>C - IntronicSNV - 1/45 1
3-58036792-C-T c.293-25981C>T - IntronicSNV - 1/45 3
3-58049639-G-A c.293-13134G>A - IntronicSNV - 1/45 2
3-58050265-C-T c.293-12508C>T - IntronicSNV - 1/45 2
3-58050948-A-G c.293-11825A>G - IntronicSNV - 1/45 1
3-58050948-A-T c.293-11825A>T - IntronicSNV - 1/45 1
3-58057684-G-A c.293-5089G>A - IntronicSNV - 1/45 3
3-58057684-G-T c.293-5089G>T - IntronicSNV - 1/45 3
3-58062824-G-C c.344G>C p.Trp115Ser Missense 2/46 - 1
3-58062830-TG-AT c.350_351delinsAT p.Leu117His Missense 2/46 - 1
3-58062860-T-C c.380T>C p.Val127Ala Missense 2/46 - 1
3-58062871-G-A c.391G>A p.Glu131Lys Missense 2/46 - 1
3-58062887-C-A c.407C>A p.Ala136Asp Missense 2/46 - 1
3-58062922-T-A c.442T>A p.Trp148Arg Missense 2/46 - 3
3-58062952-A-G c.472A>G p.Ile158Val Missense 2/46 - 1
3-58062955-A-C c.475A>C p.Thr159Pro Missense 2/46 - 1
3-58062959-A-C c.479A>C p.Asn160Thr Missense 2/46 - 1
3-58062962-T-G c.482T>G p.Phe161Cys Missense 2/46 - 3
3-58062968-A-C c.488A>C p.Gln163Pro Missense 2/46 - 1
3-58062975-G-C c.495G>C p.Trp165Cys Missense 2/46 - 1
3-58062975-G-T c.495G>T p.Trp165Cys Missense 2/46 - 1
3-58062979-GAC-CAA c.499_501delinsCAA p.Asp167Gln Missense 2/46 - 1
3-58062980-A-G c.500A>G p.Asp167Gly Missense 2/46 - 1
3-58062982-G-A c.502G>A p.Gly168Ser Missense 2/46 - 5
3-58062982-G-T c.502G>T p.Gly168Cys Missense 2/46 - 1
3-58062988-G-C c.508G>C p.Ala170Pro Missense 2/46 - 1
3-58062992-T-A c.512T>A p.Leu171Gln Missense 2/46 - 1
3-58062992-T-G c.512T>G p.Leu171Arg Missense 2/46 - 3
3-58062997-G-A c.517G>A p.Ala173Thr Missense 2/46 - 1
3-58062998-C-T c.518C>T p.Ala173Val Missense 2/46 - 3
3-58063633-G-T c.541+612G>T - IntronicSNV - 2/45 1
3-58063819-G-A c.542-625G>A - IntronicSNV - 2/45 1
3-58064482-C-A c.580C>A p.Pro194Thr Missense 3/46 - 1
3-58064498-G-A c.596G>A p.Arg199Gln Missense 3/46 - 1
3-58064503-G-A c.601G>A p.Ala201Thr Missense 3/46 - 1
3-58064504-C-T c.602C>T p.Ala201Val Missense 3/46 - 1
3-58064506-A-G c.604A>G p.Met202Val Missense 3/46 - 4
3-58064507-T-C c.605T>C p.Met202Thr Missense 3/46 - 2
3-58064528-T-A c.626T>A p.Leu209Gln Missense 3/46 - 1
3-58067395-G-A c.679G>A p.Glu227Lys Missense 4/46 - 6
3-58067401-T-C c.685T>C p.Ser229Pro Missense 4/46 - 1
3-58067414-A-G c.698A>G p.Tyr233Cys Missense 4/46 - 1
3-58067416-C-G c.700C>G p.Leu234Val Missense 4/46 - 2
3-58067419-T-C c.703T>C p.Ser235Pro Missense 4/46 - 4
3-58071644-C-A c.787+4141C>A - IntronicSNV - 4/45 1
3-58071644-C-T c.787+4141C>T - IntronicSNV - 4/45 1
3-58073474-G-C c.787+5971G>C - IntronicSNV - 4/45 1
3-58081888-T-A c.927T>A p.Ser309Arg Missense 6/46 - 2
3-58081888-T-C c.927T>C p.Ser309Ser Synonymous 6/46 - 2
3-58081918-T-A c.957T>A p.Tyr319* Nonsense 6/46 - 1
3-58081918-T-G c.957T>G p.Tyr319* Nonsense 6/46 - 1
3-58082709-G-A c.984+764G>A - IntronicSNV - 6/45 1
3-58083638-G-A c.1081G>A p.Gly361Ser Missense 7/46 - 1
3-58083645-G-A c.1088G>A p.Gly363Glu Missense 7/46 - 1
3-58083645-G-C c.1088G>C p.Gly363Ala Missense 7/46 - 1
3-58084486-A-G c.1196A>G p.Lys399Arg Missense 8/46 - 1
3-58084546-A-G c.1256A>G p.Lys419Arg Missense 8/46 - 1
3-58087932-TGC-ATG c.1348_1350delinsATG p.Cys450Met Missense 9/46 - 1
3-58087993-G-A c.1409G>A p.Arg470Gln Missense 9/46 - 1
3-58089516-A-G c.1484-170A>G - IntronicSNV - 9/45 3
3-58089761-C-T c.1559C>T p.Pro520Leu Missense 10/46 - 2
3-58090811-T-C c.1615T>C p.Phe539Leu Missense 11/46 - 1
3-58090836-C-T c.1640C>T p.Ala547Val Missense 11/46 - 1
3-58090892-C-T c.1696C>T p.Arg566Trp Missense 11/46 - 1
3-58090893-G-A c.1697G>A p.Arg566Gln Missense 11/46 - 3
3-58090893-G-T c.1697G>T p.Arg566Leu Missense 11/46 - 1
3-58092346-A-G c.1748-61A>G - IntronicSNV - 11/45 3
3-58092556-A-G c.1897A>G p.Met633Val Missense 12/46 - 1
3-58093572-A-C c.1942-613A>C - IntronicSNV - 12/45 1
3-58094188-C-T c.1945C>T p.Arg649* Nonsense 13/46 - 2
3-58094232-C-A c.1989C>A p.Asn663Lys Missense 13/46 - 2
3-58094232-C-G c.1989C>G p.Asn663Lys Missense 13/46 - 2
3-58094269-GG-CT c.2026_2027delinsCT p.Gly676Leu Missense 13/46 - 1
3-58094296-TCAG-T c.2053_2055del p.Gln685del InFrameDeletion 13/46 - 1
3-58094298-G-C c.2055G>C p.Gln685His Missense 13/46 - 1
3-58094948-A-C c.2098A>C p.Met700Leu Missense 14/46 - 1
3-58094958-C-A c.2108C>A p.Thr703Lys Missense 14/46 - 2
3-58095002-AT-GC c.2152_2153delinsGC p.Ile718Ala Missense 14/46 - 1
3-58095045-A-G c.2195A>G p.Tyr732Cys Missense 14/46 - 1
3-58095354-G-C c.2251G>C p.Gly751Arg Missense 15/46 - 1
3-58095412-C-G c.2309C>G p.Thr770Ser Missense 15/46 - 1
3-58095412-C-T c.2309C>T p.Thr770Ile Missense 15/46 - 1
3-58095865-C-T c.2452C>T p.Arg818* Nonsense 16/46 - 1
3-58095895-C-G c.2482C>G p.Gln828Glu Missense 16/46 - 1
3-58098028-T-C c.2728T>C p.Tyr910His Missense 18/46 - 1
3-58098444-T-C c.2745+399T>C - IntronicSNV - 18/45 1
3-58104626-G-T c.2773G>T p.Gly925Cys Missense 19/46 - 1
3-58105776-C-T c.2863+1060C>T - IntronicSNV - 19/45 1
3-58107039-G-A c.2935G>A p.Val979Met Missense 20/46 - 1
3-58107069-G-A c.2965G>A p.Val989Met Missense 20/46 - 1
3-58107069-G-C c.2965G>C p.Val989Leu Missense 20/46 - 1
3-58107069-G-T c.2965G>T p.Val989Leu Missense 20/46 - 1
3-58107210-CT-TG c.3106_3107delinsTG p.Leu1036Trp Missense 20/46 - 1
3-58108833-G-A c.3140G>A p.Gly1047Asp Missense 21/46 - 1
3-58108880-AT-GC c.3187_3188delinsGC p.Ile1063Ala Missense 21/46 - 2
3-58109072-AT-GC c.3379_3380delinsGC p.Ile1127Ala Missense 21/46 - 3
3-58109123-G-A c.3430G>A p.Glu1144Lys Missense 21/46 - 1
3-58109123-G-C c.3430G>C p.Glu1144Gln Missense 21/46 - 2
3-58109133-A-G c.3440A>G p.Lys1147Arg Missense 21/46 - 1
3-58109162-G-A c.3469G>A p.Asp1157Asn Missense 21/46 - 17
3-58109162-G-T c.3469G>T p.Asp1157Tyr Missense 21/46 - 14
3-58109169-C-T c.3476C>T p.Ser1159Leu Missense 21/46 - 1
3-58109223-A-G c.3530A>G p.Lys1177Arg Missense 21/46 - 1
3-58109228-G-A c.3535G>A p.Glu1179Lys Missense 21/46 - 1
3-58109228-G-C c.3535G>C p.Glu1179Gln Missense 21/46 - 1
3-58109250-A-G c.3557A>G p.Lys1186Arg Missense 21/46 - 1
3-58109276-G-A c.3583G>A p.Val1195Met Missense 21/46 - 1
3-58109282-CT-GC c.3589_3590delinsGC p.Leu1197Ala Missense 21/46 - 1
3-58109748-T-A c.3725-311T>A - IntronicSNV - 21/45 1
3-58110119-G-A c.3785G>A p.Gly1262Glu Missense 22/46 - 1
3-58110119-G-C c.3785G>C p.Gly1262Ala Missense 22/46 - 2
3-58110124-G-T c.3790G>T p.Asp1264Tyr Missense 22/46 - 1
3-58110188-A-G c.3854A>G p.Asn1285Ser Missense 22/46 - 1
3-58110215-A-G c.3881A>G p.Tyr1294Cys Missense 22/46 - 1
3-58112324-T-C c.4062-5T>C - IntronicSNV - 23/45 1
3-58112324-T-G c.4062-5T>G - IntronicSNV - 23/45 1
3-58112333-G-C c.4066G>C p.Ala1356Pro Missense 24/46 - 1
3-58112379-C-T c.4112C>T p.Ser1371Leu Missense 24/46 - 1
3-58112440-A-G c.4173A>G p.Ala1391Ala Synonymous 24/46 - 1
3-58112442-C-T c.4175C>T p.Pro1392Leu Missense 24/46 - 1
3-58112488-C-T c.4221C>T p.Pro1407Pro Synonymous 24/46 - 1
3-58112497-A-G c.4222+8A>G - IntronicSNV - 24/45 1
3-58112556-G-C c.4222+67G>C - IntronicSNV - 24/45 1
3-58114884-C-T c.4223-1584C>T - IntronicSNV - 24/45 1
3-58116478-C-G c.4233C>G p.Phe1411Leu Missense 25/46 - 2
3-58116537-T-G c.4292T>G p.Leu1431Arg Missense 25/46 - 1
3-58117664-G-A c.4391-871G>A - IntronicSNV - 25/45 1
3-58118555-G-A c.4411G>A p.Val1471Met Missense 26/46 - 10
3-58118555-G-C c.4411G>C p.Val1471Leu Missense 26/46 - 8
3-58118555-G-T c.4411G>T p.Val1471Leu Missense 26/46 - 8
3-58120357-A-G c.4529A>G p.Lys1510Arg Missense 27/46 - 1
3-58120399-G-A c.4571G>A p.Gly1524Asp Missense 27/46 - 1
3-58120429-C-G c.4601C>G p.Ala1534Gly Missense 27/46 - 1
3-58120432-G-A c.4604G>A p.Ser1535Asn Missense 27/46 - 1
3-58120468-C-A c.4640C>A p.Ala1547Asp Missense 27/46 - 1
3-58120474-A-C c.4646A>C p.Glu1549Ala Missense 27/46 - 1
3-58120499-G-A c.4671G>A p.Thr1557Thr Synonymous 27/46 - 1
3-58121751-G-T c.4717G>T p.Asp1573Tyr Missense 28/46 - 1
3-58121758-C-T c.4724C>T p.Thr1575Met Missense 28/46 - 1
3-58121790-G-A c.4756G>A p.Gly1586Arg Missense 28/46 - 4
3-58121809-T-A c.4775T>A p.Val1592Asp Missense 28/46 - 1
3-58121817-G-T c.4783G>T p.Gly1595Trp Missense 28/46 - 1
3-58121838-T-C c.4804T>C p.Ser1602Pro Missense 28/46 - 1
3-58121842-C-T c.4808C>T p.Pro1603Leu Missense 28/46 - 1
3-58121848-G-A c.4814G>A p.Arg1605His Missense 28/46 - 1
3-58121853-C-T c.4819C>T p.Arg1607* Nonsense 28/46 - 1
3-58121868-G-A c.4834G>A p.Gly1612Ser Missense 28/46 - 1
3-58121869-G-A c.4835G>A p.Gly1612Asp Missense 28/46 - 1
3-58121884-G-A c.4850G>A p.Cys1617Tyr Missense 28/46 - 1
3-58123249-C-A c.4862-760C>A - IntronicSNV - 28/45 2
3-58123249-C-T c.4862-760C>T - IntronicSNV - 28/45 2
3-58124050-G-A c.4903G>A p.Gly1635Ser Missense 29/46 - 1
3-58124074-G-A c.4927G>A p.Ala1643Thr Missense 29/46 - 1
3-58124074-G-C c.4927G>C p.Ala1643Pro Missense 29/46 - 1
3-58124074-G-T c.4927G>T p.Ala1643Ser Missense 29/46 - 1
3-58124075-C-T c.4928C>T p.Ala1643Val Missense 29/46 - 1
3-58124077-G-T c.4930G>T p.Gly1644Trp Missense 29/46 - 1
3-58124218-G-A c.5071G>A p.Gly1691Ser Missense 29/46 - 7
3-58124241-C-A c.5094C>A p.Ser1698Arg Missense 29/46 - 1
3-58124242-C-A c.5095C>A p.Pro1699Thr Missense 29/46 - 1
3-58124242-C-T c.5095C>T p.Pro1699Ser Missense 29/46 - 3
3-58126223-A-C c.5110-1362A>C - IntronicSNV - 29/45 1
3-58128430-AGC-A c.5235_5236del p.Lys1745Asnfs*3 Frameshift 31/46 - 1
3-58129322-A-T c.5407A>T p.Met1803Leu Missense 32/46 - 1
3-58129450-A-G c.5425+110A>G - IntronicSNV - 32/45 1
3-58131515-C-T c.5426-133C>T - IntronicSNV - 32/45 1
3-58131722-G-A c.5500G>A p.Gly1834Arg Missense 33/46 - 2
3-58131722-G-C c.5500G>C p.Gly1834Arg Missense 33/46 - 2
3-58131770-G-T c.5548G>T p.Gly1850* Nonsense 33/46 - 2
3-58131979-C-T c.5554+203C>T - IntronicSNV - 33/45 1
3-58132696-A-C c.5704A>C p.Ser1902Arg Missense 34/46 - 1
3-58132698-C-A c.5706C>A p.Ser1902Arg Missense 34/46 - 1
3-58132698-C-G c.5706C>G p.Ser1902Arg Missense 34/46 - 1
3-58132808-G-A c.5728+88G>A - IntronicSNV - 34/45 1
3-58133944-C-T c.5740C>T p.Arg1914Trp Missense 35/46 - 1
3-58134076-C-T c.5872C>T p.Pro1958Ser Missense 35/46 - 1
3-58134099-A-G c.5887+8A>G - IntronicSNV - 35/45 1
3-58134495-C-T c.6007C>T p.Arg2003Cys Missense 36/46 - 1
3-58134496-G-A c.6008G>A p.Arg2003His Missense 36/46 - 1
3-58134498-C-T c.6010C>T p.Arg2004* Nonsense 36/46 - 1
3-58134505-A-G c.6017A>G p.Lys2006Arg Missense 36/46 - 3
3-58134516-C-T c.6028C>T p.Arg2010Cys Missense 36/46 - 1
3-58135658-A-G c.6173A>G p.Lys2058Arg Missense 37/46 - 1
3-58138528-G-A c.6368-574G>A - IntronicSNV - 38/45 1
3-58139144-TC-T c.6410del p.Ser2137Leufs*4 Frameshift 39/46 - 1
3-58139231-C-T c.6497C>T p.Thr2166Met Missense 39/46 - 1
3-58140550-G-A c.6667G>A p.Ala2223Thr Missense 40/46 - 1
3-58140559-C-A c.6676C>A p.Leu2226Ile Missense 40/46 - 1
3-58140559-CTC-ATG c.6676_6678delinsATG p.Leu2226Met Missense 40/46 - 1
3-58141758-G-A c.6844G>A p.Ala2282Thr Missense 41/46 - 1
3-58142448-G-C c.6888+646G>C - IntronicSNV - 41/45 1
3-58145335-G-A c.6943G>A p.Ala2315Thr Missense 42/46 - 1
3-58145348-T-C c.6956T>C p.Ile2319Thr Missense 42/46 - 2
3-58148888-T-G c.7029T>G p.Tyr2343* Nonsense 43/46 - 1
3-58148980-G-A c.7121G>A p.Arg2374His Missense 43/46 - 1
3-58150433-C-T c.7198+1376C>T - IntronicSNV - 43/45 1
3-58154327-C-T c.7359C>T p.Ser2453Ser Synonymous 44/46 - 2
3-58154859-G-C c.7418-458G>C - IntronicSNV - 44/45 1
3-58155405-T-A c.7506T>A p.Tyr2502* Nonsense 45/46 - 1
3-58155405-T-G c.7506T>G p.Tyr2502* Nonsense 45/46 - 1
3-58155406-A-G c.7507A>G p.Ser2503Gly Missense 45/46 - 1
3-58157519-G-A c.*1030G>A - 3-UTRSNV 46/46 - 2
3-58157519-G-C c.*1030G>C - 3-UTRSNV 46/46 - 2