ClinVar Miner

List of variants in gene FLNA reported as uncertain significance for Ehlers-Danlos syndrome

Included ClinVar conditions (36):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 208
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HGVS dbSNP
NC_000023.10:g.(?_153577197)_(153579429_?)dup
NC_000023.10:g.(?_153577207)_(153599623_?)dup
NM_001110556.2(FLNA):c.1096G>A (p.Ala366Thr)
NM_001110556.2(FLNA):c.1138G>A (p.Asp380Asn)
NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala) rs1569551838
NM_001110556.2(FLNA):c.1223C>T (p.Thr408Met) rs781827791
NM_001110556.2(FLNA):c.1249G>A (p.Glu417Lys)
NM_001110556.2(FLNA):c.125A>G (p.Lys42Arg) rs1569551930
NM_001110556.2(FLNA):c.1309C>T (p.Arg437Trp)
NM_001110556.2(FLNA):c.1319G>C (p.Ser440Thr)
NM_001110556.2(FLNA):c.1365C>A (p.Thr455=) rs782726997
NM_001110556.2(FLNA):c.1366G>A (p.Val456Met) rs782495199
NM_001110556.2(FLNA):c.1372G>A (p.Val458Ile) rs782791907
NM_001110556.2(FLNA):c.1406C>T (p.Pro469Leu) rs782434140
NM_001110556.2(FLNA):c.1424G>A (p.Gly475Asp)
NM_001110556.2(FLNA):c.1429+8C>T rs202181557
NM_001110556.2(FLNA):c.1438C>T (p.Pro480Ser)
NM_001110556.2(FLNA):c.1451G>A (p.Arg484Gln) rs782371735
NM_001110556.2(FLNA):c.1454C>T (p.Ala485Val)
NM_001110556.2(FLNA):c.1479G>C (p.Lys493Asn) rs1557179001
NM_001110556.2(FLNA):c.1486C>T (p.Arg496Trp)
NM_001110556.2(FLNA):c.1528G>A (p.Ala510Thr)
NM_001110556.2(FLNA):c.1542G>C (p.Glu514Asp) rs782765195
NM_001110556.2(FLNA):c.1582G>C (p.Val528Leu) rs143873938
NM_001110556.2(FLNA):c.1603G>A (p.Asp535Asn) rs782321294
NM_001110556.2(FLNA):c.1613A>G (p.Tyr538Cys) rs1557178932
NM_001110556.2(FLNA):c.1621G>A (p.Glu541Lys) rs743546
NM_001110556.2(FLNA):c.168C>G (p.His56Gln) rs1569551928
NM_001110556.2(FLNA):c.1693C>T (p.Pro565Ser)
NM_001110556.2(FLNA):c.1796T>A (p.Val599Glu)
NM_001110556.2(FLNA):c.1799A>G (p.Glu600Gly)
NM_001110556.2(FLNA):c.1807G>T (p.Gly603Trp) rs200116438
NM_001110556.2(FLNA):c.1823C>T (p.Thr608Met)
NM_001110556.2(FLNA):c.1850C>T (p.Ser617Leu) rs782193139
NM_001110556.2(FLNA):c.1900C>G (p.Arg634Gly) rs111516546
NM_001110556.2(FLNA):c.1901G>A (p.Arg634His) rs782038837
NM_001110556.2(FLNA):c.1958A>G (p.Asp653Gly) rs1249111377
NM_001110556.2(FLNA):c.1964G>A (p.Arg655His) rs782563602
NM_001110556.2(FLNA):c.196A>T (p.Asn66Tyr) rs1569551926
NM_001110556.2(FLNA):c.1991G>A (p.Arg664His)
NM_001110556.2(FLNA):c.1997C>G (p.Ala666Gly)
NM_001110556.2(FLNA):c.1997C>T (p.Ala666Val) rs374295965
NM_001110556.2(FLNA):c.19C>T (p.Arg7Trp) rs941318584
NM_001110556.2(FLNA):c.2023-6C>T rs372021340
NM_001110556.2(FLNA):c.2033G>A (p.Arg678His)
NM_001110556.2(FLNA):c.2183A>G (p.Asn728Ser)
NM_001110556.2(FLNA):c.2204A>G (p.Tyr735Cys)
NM_001110556.2(FLNA):c.2233G>T (p.Ala745Ser)
NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile) rs1297013254
NM_001110556.2(FLNA):c.2254_2268delinsCCCTTCAGGGTG (p.Val752_Asn756delinsProPheArgVal) rs863223631
NM_001110556.2(FLNA):c.2281-3C>A
NM_001110556.2(FLNA):c.2319A>T (p.Lys773Asn) rs1060500719
NM_001110556.2(FLNA):c.2323T>C (p.Tyr775His) rs371839875
NM_001110556.2(FLNA):c.2364G>A (p.Glu788=) rs1448428046
NM_001110556.2(FLNA):c.2410G>A (p.Val804Ile) rs374130804
NM_001110556.2(FLNA):c.2483G>A (p.Arg828His) rs1347740802
NM_001110556.2(FLNA):c.2483G>C (p.Arg828Pro) rs1347740802
NM_001110556.2(FLNA):c.2485A>G (p.Asn829Asp) rs1557178269
NM_001110556.2(FLNA):c.2492A>G (p.Asn831Ser) rs781846227
NM_001110556.2(FLNA):c.2584A>G (p.Ile862Val) rs1557178202
NM_001110556.2(FLNA):c.2614G>A (p.Ala872Thr)
NM_001110556.2(FLNA):c.2744C>A (p.Thr915Asn) rs782045915
NM_001110556.2(FLNA):c.2764G>C (p.Asp922His)
NM_001110556.2(FLNA):c.2791A>G (p.Asn931Asp) rs190437842
NM_001110556.2(FLNA):c.2792A>T (p.Asn931Ile) rs1557178134
NM_001110556.2(FLNA):c.2813C>T (p.Thr938Met) rs782180774
NM_001110556.2(FLNA):c.2826+4G>A rs1037180469
NM_001110556.2(FLNA):c.2831C>T (p.Pro944Leu)
NM_001110556.2(FLNA):c.2839G>A (p.Val947Ile)
NM_001110556.2(FLNA):c.2965C>A (p.Gln989Lys) rs1557178045
NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala)
NM_001110556.2(FLNA):c.29A>G (p.Gln10Arg)
NM_001110556.2(FLNA):c.3036G>A (p.Ser1012=) rs373908435
NM_001110556.2(FLNA):c.3107G>A (p.Arg1036His)
NM_001110556.2(FLNA):c.3112G>A (p.Glu1038Lys) rs1187268269
NM_001110556.2(FLNA):c.3260G>A (p.Arg1087His) rs369668866
NM_001110556.2(FLNA):c.3286G>A (p.Gly1096Ser) rs782149159
NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr) rs371677498
NM_001110556.2(FLNA):c.3337G>A (p.Glu1113Lys)
NM_001110556.2(FLNA):c.338T>C (p.Phe113Ser) rs1557180178
NM_001110556.2(FLNA):c.3416T>G (p.Leu1139Arg) rs782633080
NM_001110556.2(FLNA):c.3455C>T (p.Ala1152Val) rs1557177751
NM_001110556.2(FLNA):c.34G>T (p.Ala12Ser)
NM_001110556.2(FLNA):c.3514C>G (p.Arg1172Gly)
NM_001110556.2(FLNA):c.3523G>A (p.Ala1175Thr) rs370202395
NM_001110556.2(FLNA):c.3602C>T (p.Ala1201Val)
NM_001110556.2(FLNA):c.3611C>T (p.Pro1204Leu) rs376726422
NM_001110556.2(FLNA):c.3647C>T (p.Thr1216Met)
NM_001110556.2(FLNA):c.3670C>T (p.Leu1224Phe) rs1557177690
NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=) rs200363918
NM_001110556.2(FLNA):c.3769G>A (p.Gly1257Ser) rs781896277
NM_001110556.2(FLNA):c.3861G>T (p.Gln1287His) rs1557177627
NM_001110556.2(FLNA):c.3929A>G (p.Gln1310Arg)
NM_001110556.2(FLNA):c.3940G>A (p.Asp1314Asn) rs1557177584
NM_001110556.2(FLNA):c.3979+5G>A rs1569551642
NM_001110556.2(FLNA):c.3985C>T (p.His1329Tyr) rs782746289
NM_001110556.2(FLNA):c.4018G>A (p.Val1340Met)
NM_001110556.2(FLNA):c.4060G>A (p.Asp1354Asn) rs377390031
NM_001110556.2(FLNA):c.4070G>A (p.Arg1357Gln)
NM_001110556.2(FLNA):c.4075C>T (p.Arg1359Cys) rs369768801
NM_001110556.2(FLNA):c.4082A>G (p.His1361Arg) rs782774182
NM_001110556.2(FLNA):c.410T>A (p.Ile137Asn) rs1569551877
NM_001110556.2(FLNA):c.4174G>A (p.Val1392Ile)
NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu) rs1557177412
NM_001110556.2(FLNA):c.4343C>T (p.Ala1448Val)
NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn) rs782129236
NM_001110556.2(FLNA):c.4424C>T (p.Thr1475Ile) rs1557177388
NM_001110556.2(FLNA):c.4444C>T (p.Pro1482Ser) rs782349011
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110556.2(FLNA):c.4452G>C (p.Gln1484His) rs1569551606
NM_001110556.2(FLNA):c.4457A>T (p.Lys1486Ile)
NM_001110556.2(FLNA):c.4465G>C (p.Gly1489Arg)
NM_001110556.2(FLNA):c.4475-4C>T rs199652065
NM_001110556.2(FLNA):c.4499T>C (p.Val1500Ala)
NM_001110556.2(FLNA):c.4517C>T (p.Thr1506Ile) rs797045579
NM_001110556.2(FLNA):c.4528A>C (p.Asn1510His) rs1557177310
NM_001110556.2(FLNA):c.4544G>A (p.Arg1515Gln)
NM_001110556.2(FLNA):c.461T>C (p.Met154Thr) rs782240483
NM_001110556.2(FLNA):c.464G>C (p.Trp155Ser) rs1557179668
NM_001110556.2(FLNA):c.4696G>A (p.Val1566Met) rs1181500076
NM_001110556.2(FLNA):c.4721_4732del (p.Asp1574_Glu1577del) rs1557177229
NM_001110556.2(FLNA):c.4755+5G>A rs199803218
NM_001110556.2(FLNA):c.4772C>T (p.Pro1591Leu)
NM_001110556.2(FLNA):c.4825G>A (p.Val1609Met)
NM_001110556.2(FLNA):c.4834G>C (p.Val1612Leu)
NM_001110556.2(FLNA):c.487G>A (p.Ala163Thr) rs1569551875
NM_001110556.2(FLNA):c.4903C>T (p.Arg1635Cys)
NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg) rs1569551874
NM_001110556.2(FLNA):c.5009C>T (p.Thr1670Met)
NM_001110556.2(FLNA):c.5033C>T (p.Ala1678Val) rs1382817700
NM_001110556.2(FLNA):c.5059A>G (p.Thr1687Ala)
NM_001110556.2(FLNA):c.5075_5092dup (p.Asp1692_Asp1697dup) rs781960834
NM_001110556.2(FLNA):c.5098G>A (p.Val1700Met)
NM_001110556.2(FLNA):c.5127C>A (p.Asp1709Glu) rs1557176627
NM_001110556.2(FLNA):c.5342A>G (p.Asn1781Ser) rs373089783
NM_001110556.2(FLNA):c.537G>C (p.Lys179Asn) rs1557179655
NM_001110556.2(FLNA):c.546G>C (p.Gln182His) rs1557179648
NM_001110556.2(FLNA):c.5482G>A (p.Val1828Met)
NM_001110556.2(FLNA):c.5591A>G (p.Asn1864Ser) rs782095418
NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln) rs782447567
NM_001110556.2(FLNA):c.5710G>A (p.Gly1904Ser) rs782549964
NM_001110556.2(FLNA):c.5786C>T (p.Pro1929Leu)
NM_001110556.2(FLNA):c.5875C>T (p.Arg1959Cys)
NM_001110556.2(FLNA):c.5911A>T (p.Ile1971Phe) rs190712778
NM_001110556.2(FLNA):c.5951C>T (p.Thr1984Met) rs782639698
NM_001110556.2(FLNA):c.5978G>C (p.Arg1993Pro)
NM_001110556.2(FLNA):c.6047C>T (p.Thr2016Met) rs781946802
NM_001110556.2(FLNA):c.6107C>T (p.Pro2036Leu) rs1557176131
NM_001110556.2(FLNA):c.619C>T (p.Pro207Ser)
NM_001110556.2(FLNA):c.61G>T (p.Val21Phe)
NM_001110556.2(FLNA):c.6217C>T (p.Arg2073Cys) rs782069230
NM_001110556.2(FLNA):c.6220G>A (p.Asp2074Asn) rs371611462
NM_001110556.2(FLNA):c.623-20_623-12del rs786205200
NM_001110556.2(FLNA):c.6268G>C (p.Val2090Leu) rs968230475
NM_001110556.2(FLNA):c.6269T>C (p.Val2090Ala) rs1569551477
NM_001110556.2(FLNA):c.6307A>G (p.Arg2103Gly) rs370277156
NM_001110556.2(FLNA):c.6310G>A (p.Val2104Ile)
NM_001110556.2(FLNA):c.6316T>C (p.Tyr2106His)
NM_001110556.2(FLNA):c.6320G>C (p.Cys2107Ser) rs1557176052
NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser) rs782400832
NM_001110556.2(FLNA):c.6394G>A (p.Val2132Met) rs201396725
NM_001110556.2(FLNA):c.6415C>T (p.Arg2139Trp) rs782761341
NM_001110556.2(FLNA):c.6481G>A (p.Asp2161Asn)
NM_001110556.2(FLNA):c.6502+8C>G
NM_001110556.2(FLNA):c.6532G>C (p.Val2178Leu) rs1569551461
NM_001110556.2(FLNA):c.6565G>A (p.Glu2189Lys) rs1405780478
NM_001110556.2(FLNA):c.6568A>C (p.Ile2190Leu)
NM_001110556.2(FLNA):c.65A>G (p.Asp22Gly) rs782598729
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) rs797045581
NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln) rs781984274
NM_001110556.2(FLNA):c.6728C>G (p.Ala2243Gly) rs953454766
NM_001110556.2(FLNA):c.6776T>C (p.Phe2259Ser) rs1276647740
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His) rs782275601
NM_001110556.2(FLNA):c.6871G>A (p.Gly2291Ser) rs797044739
NM_001110556.2(FLNA):c.6875C>T (p.Ser2292Phe) rs1557175878
NM_001110556.2(FLNA):c.6916G>A (p.Glu2306Lys)
NM_001110556.2(FLNA):c.6973G>A (p.Val2325Met) rs1557175818
NM_001110556.2(FLNA):c.6983C>T (p.Pro2328Leu)
NM_001110556.2(FLNA):c.7043A>G (p.Asn2348Ser) rs1557175657
NM_001110556.2(FLNA):c.7055C>T (p.Ser2352Phe) rs1557175646
NM_001110556.2(FLNA):c.7059T>G (p.Phe2353Leu) rs864622713
NM_001110556.2(FLNA):c.7066A>C (p.Ser2356Arg) rs781823700
NM_001110556.2(FLNA):c.70C>T (p.Arg24Trp)
NM_001110556.2(FLNA):c.714C>G (p.Ile238Met) rs1557179587
NM_001110556.2(FLNA):c.7157A>G (p.Asp2386Gly)
NM_001110556.2(FLNA):c.7167T>G (p.Ala2389=) rs782541746
NM_001110556.2(FLNA):c.7172G>A (p.Arg2391His) rs727503930
NM_001110556.2(FLNA):c.7174T>C (p.Phe2392Leu)
NM_001110556.2(FLNA):c.7188G>C (p.Glu2396Asp)
NM_001110556.2(FLNA):c.7195G>A (p.Val2399Ile) rs878854463
NM_001110556.2(FLNA):c.7202T>C (p.Leu2401Pro)
NM_001110556.2(FLNA):c.7205T>C (p.Ile2402Thr) rs202152952
NM_001110556.2(FLNA):c.7210G>A (p.Val2404Ile)
NM_001110556.2(FLNA):c.7259T>C (p.Val2420Ala) rs782289803
NM_001110556.2(FLNA):c.7381G>T (p.Ala2461Ser)
NM_001110556.2(FLNA):c.7388C>T (p.Ser2463Leu) rs1460574102
NM_001110556.2(FLNA):c.7389G>A (p.Ser2463=) rs373103712
NM_001110556.2(FLNA):c.7394C>T (p.Thr2465Ile) rs878854464
NM_001110556.2(FLNA):c.7463C>A (p.Thr2488Asn) rs909387820
NM_001110556.2(FLNA):c.7544A>G (p.Lys2515Arg) rs782442409
NM_001110556.2(FLNA):c.77C>T (p.Ala26Val)
NM_001110556.2(FLNA):c.7A>G (p.Ser3Gly)
NM_001110556.2(FLNA):c.826C>T (p.Arg276Trp) rs1172505050
NM_001110556.2(FLNA):c.84G>C (p.Met28Ile)
NM_001110556.2(FLNA):c.853C>T (p.Arg285Cys) rs1557179536
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) rs192609440
NM_001110556.2(FLNA):c.902G>T (p.Arg301Leu) rs371600068
NM_001110556.2(FLNA):c.959T>G (p.Val320Gly)

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