FLNB — 2800 ClinVar variants
All ClinVar germline FLNB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1333 flagged for review →
78 Pathogenic · 6 Pathogenic/Likely pathogenic · 69 Likely pathogenic · 262 Conflicting · 166 Benign · 67 Benign/Likely benign · 959 Likely benign · 1193 Uncertain significance
Full FLNB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 1333
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
FLNB p.Val936Met
Likely pathogenic
Single submitter
Larsen syndrome
Predictors agree, ClinVar conflicts 102
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
FLNB p.Ala1165Ser
Conflicting
Single submitter
Inborn genetic diseases
-
FLNB p.Ala1218Thr
Conflicting
Single submitter
FLNB-Related Spectrum Disorders
-
FLNB p.Ala1225Thr
Conflicting
Single submitter
Inborn genetic diseases
- FLNB p.Ala1276Ser Conflicting Single submitter
-
FLNB p.Ala1356Thr
Conflicting
Single submitter
spondylocarpotarsal synostosis syndrome
-
FLNB p.Ala1625Thr
Conflicting
Single submitter
FLNB-Related Spectrum Disorders
-
FLNB p.Ala1660Thr
Conflicting
Single submitter
connective tissue disorder
-
FLNB p.Ala1836Thr
Conflicting
Single submitter
Inborn genetic diseases
-
FLNB p.Ala1944Thr
Conflicting
Single submitter
Inborn genetic diseases
-
FLNB p.Ala2223Thr
Conflicting
Single submitter
Inborn genetic diseases
- FLNB p.Ala2504Thr Conflicting Single submitter
-
FLNB p.Ala2512Thr
Conflicting
Single submitter
Inborn genetic diseases
-
FLNB p.Ala512Thr
Conflicting
Single submitter
FLNB-Related Spectrum Disorders
-
FLNB p.Ala832Thr
Conflicting
Single submitter
Inborn genetic diseases
-
FLNB p.Arg1438His
Conflicting
Single submitter
Boomerang dysplasia
-
FLNB p.Arg1914Gln
Conflicting
Single submitter
Inborn genetic diseases
- FLNB p.Arg2010His Conflicting Single submitter
-
FLNB p.Arg2197Gln
Conflicting
Single submitter
Inborn genetic diseases
-
FLNB p.Arg2475His
Conflicting
Single submitter
Inborn genetic diseases
-
FLNB p.Arg36His
Conflicting
Single submitter
connective tissue disorder
-
FLNB p.Arg470Gln
Conflicting
Single submitter
FLNB-Related Spectrum Disorders
-
FLNB p.Arg566Gln
Conflicting
Single submitter
FLNB-Related Spectrum Disorders
- FLNB p.Arg699Gln Conflicting Single submitter
-
FLNB p.Arg786Trp
Conflicting
Single submitter
Inborn genetic diseases
-
FLNB p.Arg818Gln
Conflicting
Single submitter
Inborn genetic diseases
-
FLNB p.Arg999Pro
Conflicting
Single submitter
Inborn genetic diseases
- FLNB p.Asn106Ser Conflicting Single submitter
-
FLNB p.Asn1347Ser
Conflicting
Single submitter
FLNB-Related Spectrum Disorders
- FLNB p.Asn2483Ser Conflicting Single submitter
-
FLNB p.Asn453Ser
Conflicting
Single submitter
Inborn genetic diseases
- FLNB p.Asp1089Asn Conflicting Single submitter
-
FLNB p.Asp1264Glu
Conflicting
Single submitter
FLNB-Related Spectrum Disorders
-
FLNB p.Asp1499Asn
Conflicting
Single submitter
connective tissue disorder
-
FLNB p.Asp1598Asn
Conflicting
Single submitter
Inborn genetic diseases
-
FLNB p.Asp167Glu
Conflicting
Single submitter
Larsen syndrome
-
FLNB p.Asp435Asn
Conflicting
Single submitter
Inborn genetic diseases
-
FLNB p.Asp623Val
Conflicting
Single submitter
FLNB-Related Spectrum Disorders
-
FLNB p.Cys2537Tyr
Conflicting
Single submitter
Inborn genetic diseases
-
FLNB p.Gln1260Pro
Conflicting
Single submitter
Inborn genetic diseases
- FLNB p.Gln304Arg Conflicting Single submitter
-
FLNB p.Gln599Arg
Conflicting
Single submitter
Inborn genetic diseases
- FLNB p.Glu1011Ala Conflicting Single submitter
- FLNB p.Glu1730Lys Conflicting Single submitter
-
FLNB p.Gly1262Arg
Conflicting
Single submitter
FLNB-related disorder
- FLNB p.Gly1635Ser Conflicting Single submitter
-
FLNB p.Gly1794Arg
Conflicting
Single submitter
Inborn genetic diseases
-
FLNB p.Gly2055Asp
Conflicting
Single submitter
atelosteogenesis type III
-
FLNB p.Gly530Trp
Conflicting
Single submitter
atelosteogenesis type III
-
FLNB p.Gly565Arg
Conflicting
Single submitter
Boomerang dysplasia
-
FLNB p.Gly687Arg
Conflicting
Single submitter
FLNB-Related Spectrum Disorders
-
FLNB p.Gly925Cys
Conflicting
Single submitter
Larsen syndrome
-
FLNB p.His560Arg
Conflicting
Single submitter
Inborn genetic diseases
-
FLNB p.Ile1063Val
Conflicting
Single submitter
Inborn genetic diseases
-
FLNB p.Ile1542Thr
Conflicting
Single submitter
Larsen syndrome
-
FLNB p.Ile1776Thr
Conflicting
Single submitter
FLNB-Related Spectrum Disorders
-
FLNB p.Ile1869Thr
Conflicting
Single submitter
Inborn genetic diseases
-
FLNB p.Ile2228Thr
Conflicting
Single submitter
Inborn genetic diseases
-
FLNB p.Ile2264Val
Conflicting
Single submitter
Inborn genetic diseases
-
FLNB p.Ile2310Val
Conflicting
Single submitter
FLNB-Related Spectrum Disorders
-
FLNB p.Ile379Val
Conflicting
Single submitter
Inborn genetic diseases
-
FLNB p.Ile563Thr
Conflicting
Single submitter
FLNB-Related Spectrum Disorders
-
FLNB p.Ile821Val
Conflicting
Single submitter
Inborn genetic diseases
-
FLNB p.Lys1057Gln
Conflicting
Single submitter
connective tissue disorder
- FLNB p.Lys1221Glu Conflicting Single submitter
- FLNB p.Lys2265Arg Conflicting Single submitter
-
FLNB p.Lys399Arg
Conflicting
Single submitter
connective tissue disorder
-
FLNB p.Lys744Arg
Conflicting
Single submitter
Inborn genetic diseases
-
FLNB p.Met1206Val
Conflicting
Single submitter
atelosteogenesis type I
-
FLNB p.Met270Val
Conflicting
Single submitter
connective tissue disorder
-
FLNB p.Met700Leu
Conflicting
Single submitter
connective tissue disorder
-
FLNB p.Phe1411Leu
Conflicting
Single submitter
FLNB-Related Spectrum Disorders
-
FLNB p.Phe1724Tyr
Conflicting
Single submitter
Inborn genetic diseases
-
FLNB p.Phe2347Leu
Conflicting
Single submitter
FLNB-Related Spectrum Disorders
-
FLNB p.Phe964Leu
Conflicting
Single submitter
spondylocarpotarsal synostosis syndrome
- FLNB p.Pro1257Leu Conflicting Single submitter
-
FLNB p.Pro1296Ser
Conflicting
Single submitter
Inborn genetic diseases
-
FLNB p.Pro2233Ser
Conflicting
Single submitter
Inborn genetic diseases
-
FLNB p.Ser1602Tyr
Conflicting
Single submitter
atelosteogenesis type I
-
FLNB p.Ser2113Thr
Conflicting
Single submitter
Inborn genetic diseases
-
FLNB p.Ser484Thr
Conflicting
Single submitter
FLNB-Related Spectrum Disorders
- FLNB p.Ser603Leu Conflicting Single submitter
-
FLNB p.Thr1609Ile
Conflicting
Single submitter
FLNB-Related Spectrum Disorders
- FLNB p.Thr2166Met Conflicting Single submitter
-
FLNB p.Trp2587Leu
Conflicting
Single submitter
Inborn genetic diseases
-
FLNB p.Trp529Ser
Conflicting
Single submitter
Inborn genetic diseases
- FLNB p.Tyr1684Cys Conflicting Single submitter
-
FLNB p.Tyr1687His
Conflicting
Single submitter
Larsen syndrome
- FLNB p.Val1055Leu Conflicting Single submitter
-
FLNB p.Val1109Ile
Conflicting
Single submitter
atelosteogenesis type III
-
FLNB p.Val1472Met
Conflicting
Single submitter
FLNB-Related Spectrum Disorders
- FLNB p.Val1592Ile Conflicting Single submitter
-
FLNB p.Val2025Met
Conflicting
Single submitter
atelosteogenesis type III
-
FLNB p.Val2039Met
Conflicting
Single submitter
Inborn genetic diseases
-
FLNB p.Val2071Ile
Conflicting
Single submitter
Inborn genetic diseases
- FLNB p.Val2375Ile Conflicting Single submitter
-
FLNB p.Val2419Ile
Conflicting
Single submitter
FLNB-Related Spectrum Disorders
- FLNB p.Val417Met Conflicting Single submitter
-
FLNB p.Val443Ile
Conflicting
Single submitter
FLNB-Related Spectrum Disorders
-
FLNB p.Val443Leu
Conflicting
Single submitter
FLNB-Related Spectrum Disorders
-
FLNB p.Val721Ala
Conflicting
Single submitter
Inborn genetic diseases
- FLNB p.Val839Ala Conflicting Single submitter
-
FLNB p.Val989Met
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 598
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 598
-
FLNB p.Ala1191Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Ala1391Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Ala1608Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Ala1704Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FLNB p.Ala2208Val Uncertain significance Multiple submitters
-
FLNB p.Ala2381Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Ala259Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Ala547Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Arg1504Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Arg2101Leu
Uncertain significance
Multiple submitters
FLNB-related disorder
-
FLNB p.Arg2288His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FLNB p.Arg262Lys Uncertain significance Multiple submitters
-
FLNB p.Arg36Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Arg566Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Arg69Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Arg999Gln
Uncertain significance
Multiple submitters
spondylocarpotarsal synostosis syndrome
-
FLNB p.Asn1718Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Asn862Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Asn881Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FLNB p.Asn885Ser Uncertain significance Multiple submitters
-
FLNB p.Asn950Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Asp176Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FLNB p.Asp626Tyr Uncertain significance Multiple submitters
-
FLNB p.Cys1087Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Gln503Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Gln915Glu
Uncertain significance
Multiple submitters
FLNB-related disorder
-
FLNB p.Glu1078Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FLNB p.Glu1179Asp Uncertain significance Multiple submitters
-
FLNB p.Glu1211Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Glu1366Ala
Uncertain significance
Multiple submitters
spondylocarpotarsal synostosis syndrome
-
FLNB p.Glu1661Lys
Uncertain significance
Multiple submitters
FLNB-Related Spectrum Disorders
-
FLNB p.Glu2332Lys
Uncertain significance
Multiple submitters
Larsen syndrome
-
FLNB p.Glu486Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Glu78Gly
Uncertain significance
Multiple submitters
FLNB-Related Spectrum Disorders
-
FLNB p.Gly1093Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FLNB p.Gly1325Ser Uncertain significance Multiple submitters
- FLNB p.Gly1430Arg Uncertain significance Multiple submitters
-
FLNB p.Gly1548Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FLNB p.Gly493Val Uncertain significance Multiple submitters
-
FLNB p.Gly530Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Gly580Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FLNB p.Gly583Glu Uncertain significance Multiple submitters
-
FLNB p.Gly602Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FLNB p.Gly642Asp Uncertain significance Multiple submitters
- FLNB p.Gly773Ala Uncertain significance Multiple submitters
-
FLNB p.Gly775Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FLNB p.Gly817Glu Uncertain significance Multiple submitters
-
FLNB p.Gly859Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Gly970Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FLNB p.His1023Arg Uncertain significance Multiple submitters
-
FLNB p.His1117Arg
Uncertain significance
Multiple submitters
FLNB-Related Spectrum Disorders
-
FLNB p.His2270Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Ile469Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Ile594Thr
Uncertain significance
Multiple submitters
FLNB-related disorder
- FLNB p.Ile718Thr Uncertain significance Multiple submitters
-
FLNB p.Leu1440Pro
Uncertain significance
Multiple submitters
FLNB-Related Spectrum Disorders
- FLNB p.Leu1465Phe Uncertain significance Multiple submitters
-
FLNB p.Lys2150Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Lys611Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Met1129Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Met1703Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FLNB p.Phe1724Cys Uncertain significance Multiple submitters
- FLNB p.Phe683Ser Uncertain significance Multiple submitters
-
FLNB p.Pro1080Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Pro1141Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Pro1389Leu
Uncertain significance
Multiple submitters
FLNB-related disorder
-
FLNB p.Pro1726Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Pro2063Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Pro2136Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Pro420His
Uncertain significance
Multiple submitters
FLNB-related disorder
-
FLNB p.Ser1255Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Ser1977Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FLNB p.Ser1997Leu Uncertain significance Multiple submitters
-
FLNB p.Ser2481Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FLNB p.Thr1323Ser Uncertain significance Multiple submitters
-
FLNB p.Thr1343Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FLNB p.Thr140Met Uncertain significance Multiple submitters
- FLNB p.Thr216Ile Uncertain significance Multiple submitters
-
FLNB p.Thr2434Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FLNB p.Thr2554Asn Uncertain significance Multiple submitters
-
FLNB p.Thr806Lys
Uncertain significance
Multiple submitters
atelosteogenesis type III
-
FLNB p.Trp2587Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Tyr1530Cys
Uncertain significance
Multiple submitters
atelosteogenesis type I
-
FLNB p.Tyr1676His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FLNB p.Tyr2171Ser Uncertain significance Multiple submitters
-
FLNB p.Val127Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FLNB p.Val1351Met Uncertain significance Multiple submitters
- FLNB p.Val1415Met Uncertain significance Multiple submitters
-
FLNB p.Val1511Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Val1693Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Val1990Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Val2169Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Val2185Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Val2564Ile
Uncertain significance
Multiple submitters
FLNB-Related Spectrum Disorders
- FLNB p.Val2574Ile Uncertain significance Multiple submitters
-
FLNB p.Val2575Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Val428Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FLNB p.Val767Met Uncertain significance Multiple submitters
-
FLNB p.Val839Gly
Uncertain significance
Multiple submitters
FLNB-Related Spectrum Disorders
-
FLNB p.Val996Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Ala1125Val
Uncertain significance
Single submitter
Inborn genetic diseases
- FLNB p.Ala1161Val Uncertain significance Single submitter
- FLNB p.Ala1191Glu Uncertain significance Single submitter
- FLNB p.Ala1225Val Uncertain significance Single submitter
- FLNB p.Ala1268Asp Uncertain significance Single submitter
- FLNB p.Ala1271Val Uncertain significance Single submitter
- FLNB p.Ala1276Thr Uncertain significance Single submitter
- FLNB p.Ala1286Ser Uncertain significance Single submitter
- FLNB p.Ala1341Val Uncertain significance Single submitter
-
FLNB p.Ala1427Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FLNB p.Ala1453Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FLNB p.Ala1619Asp
Uncertain significance
Single submitter
spondylocarpotarsal synostosis syndrome
- FLNB p.Ala1662Asp Uncertain significance Single submitter
- FLNB p.Ala1719Val Uncertain significance Single submitter
- FLNB p.Ala1732Asp Uncertain significance Single submitter
-
FLNB p.Ala1789Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- FLNB p.Ala1836Asp Uncertain significance Single submitter
- FLNB p.Ala1836Ser Uncertain significance Single submitter
-
FLNB p.Ala198Thr
Uncertain significance
Single submitter
atelosteogenesis type I
- FLNB p.Ala2109Thr Uncertain significance Single submitter
- FLNB p.Ala2229Thr Uncertain significance Single submitter
- FLNB p.Ala2282Pro Uncertain significance Single submitter
-
FLNB p.Ala2381Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- FLNB p.Ala2482Pro Uncertain significance Single submitter
- FLNB p.Ala2520Ser Uncertain significance Single submitter
-
FLNB p.Ala284Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FLNB p.Ala382Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- FLNB p.Ala482Val Uncertain significance Single submitter
- FLNB p.Ala512Ser Uncertain significance Single submitter
- FLNB p.Ala52Val Uncertain significance Single submitter
- FLNB p.Ala547Gly Uncertain significance Single submitter
- FLNB p.Ala639Asp Uncertain significance Single submitter
- FLNB p.Ala705Glu Uncertain significance Single submitter
-
FLNB p.Ala705Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- FLNB p.Ala815Thr Uncertain significance Single submitter
-
FLNB p.Ala83Ser
Uncertain significance
Single submitter
FLNB-Related Spectrum Disorders
- FLNB p.Ala858Pro Uncertain significance Single submitter
- FLNB p.Ala878Thr Uncertain significance Single submitter
- FLNB p.Ala971Glu Uncertain significance Single submitter
- FLNB p.Arg1219Gln Uncertain significance Single submitter
- FLNB p.Arg1230Lys Uncertain significance Single submitter
- FLNB p.Arg1330Ser Uncertain significance Single submitter
- FLNB p.Arg1458Ser Uncertain significance Single submitter
- FLNB p.Arg1463Gln Uncertain significance Single submitter
- FLNB p.Arg1504Cys Uncertain significance Single submitter
- FLNB p.Arg1504His Uncertain significance Single submitter
- FLNB p.Arg1689Cys Uncertain significance Single submitter
- FLNB p.Arg1787Ser Uncertain significance Single submitter
- FLNB p.Arg1913Met Uncertain significance Single submitter
- FLNB p.Arg1969Trp Uncertain significance Single submitter
Predictors split 632
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 632
-
FLNB p.Ala1191Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Ala1286Val
Benign
Multiple submitters
FLNB-Related Spectrum Disorders
-
FLNB p.Ala2193Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Ala433Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Ala850Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Arg1256Trp
Likely benign
Multiple submitters
Inborn genetic diseases
-
FLNB p.Arg1438Cys
Uncertain significance
Multiple submitters
FLNB-related disorder
- FLNB p.Arg1689His Uncertain significance Multiple submitters
-
FLNB p.Arg2139His
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
FLNB p.Arg2289His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Arg999Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FLNB p.Asn162Tyr Uncertain significance Multiple submitters
-
FLNB p.Asn1871Ser
Likely benign
Multiple submitters
Inborn genetic diseases
-
FLNB p.Asn2245Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Asn451Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Asn881His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Asp1092Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Asp1157Asn
Benign
Multiple submitters
FLNB-Related Spectrum Disorders
-
FLNB p.Asp1546Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FLNB p.Asp1573Asn Uncertain significance Multiple submitters
- FLNB p.Asp167Gly Likely pathogenic Multiple submitters
-
FLNB p.Asp1778Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Asp1929Asn
Benign/Likely benign
Multiple submitters
FLNB-Related Spectrum Disorders
-
FLNB p.Asp196Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Asp686Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Asp891His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Asp927Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FLNB p.Gln273His Uncertain significance Multiple submitters
-
FLNB p.Gln915Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FLNB p.Glu1086Lys Uncertain significance Multiple submitters
-
FLNB p.Glu1293Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FLNB p.Glu1632Lys Uncertain significance Multiple submitters
-
FLNB p.Glu1661Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Gly1022Arg
Uncertain significance
Multiple submitters
spondylocarpotarsal synostosis syndrome
-
FLNB p.Gly1262Ala
Benign/Likely benign
Multiple submitters
connective tissue disorder
-
FLNB p.Gly1263Ser
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
FLNB p.Gly1428Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Gly1464Ala
Uncertain significance
Multiple submitters
FLNB-Related Spectrum Disorders
-
FLNB p.Gly168Ser
Pathogenic/Likely pathogenic
Multiple submitters
FLNB-related disorder
-
FLNB p.Gly1691Asp
Pathogenic/Likely pathogenic
Multiple submitters
Larsen syndrome
-
FLNB p.Gly1691Ser
Pathogenic
Multiple submitters
Boomerang dysplasia
-
FLNB p.Gly2249Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Gly2328Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Gly2396Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Gly385Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Gly496Cys
Uncertain significance
Multiple submitters
connective tissue disorder
-
FLNB p.Gly724Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FLNB p.Gly925Ser Likely benign Multiple submitters
-
FLNB p.Gly951Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.His1215Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Ile1007Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Ile1866Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Ile1962Thr
Uncertain significance
Multiple submitters
FLNB-related disorder
- FLNB p.Ile2264Met Uncertain significance Multiple submitters
- FLNB p.Leu2052Val Uncertain significance Multiple submitters
-
FLNB p.Leu952Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Lys2439Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FLNB p.Lys328Glu Uncertain significance Multiple submitters
-
FLNB p.Lys504Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Lys628Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FLNB p.Met2445Leu Uncertain significance Multiple submitters
-
FLNB p.Met491Thr
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
FLNB p.Phe2018Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Pro1236Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Pro1336Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Pro1454Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Pro1468Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FLNB p.Pro191Thr Uncertain significance Multiple submitters
-
FLNB p.Pro1958His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Pro2106Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Pro396Ser
Uncertain significance
Multiple submitters
FLNB-Related Spectrum Disorders
-
FLNB p.Pro420Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FLNB p.Pro441Thr Uncertain significance Multiple submitters
-
FLNB p.Ser1096Phe
Uncertain significance
Multiple submitters
FLNB-Related Spectrum Disorders
-
FLNB p.Ser1172Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Ser1433Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Ser188Cys
Uncertain significance
Multiple submitters
FLNB-Related Spectrum Disorders
-
FLNB p.Ser2227Cys
Benign/Likely benign
Multiple submitters
FLNB-Related Spectrum Disorders
-
FLNB p.Ser2251Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Ser2487Phe
Likely benign
Multiple submitters
Inborn genetic diseases
-
FLNB p.Ser2496Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Ser484Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Thr1003Met
Uncertain significance
Multiple submitters
connective tissue disorder
-
FLNB p.Thr1203Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Thr1480Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Thr1557Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Thr1579Ile
Uncertain significance
Multiple submitters
connective tissue disorder
- FLNB p.Thr2409Asn Uncertain significance Multiple submitters
-
FLNB p.Thr2420Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FLNB p.Thr2443Ala Uncertain significance Multiple submitters
-
FLNB p.Thr640Met
Benign/Likely benign
Multiple submitters
connective tissue disorder
-
FLNB p.Thr71Ser
Uncertain significance
Multiple submitters
FLNB-related disorder
- FLNB p.Thr872Ser Uncertain significance Multiple submitters
-
FLNB p.Thr907Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Tyr1190Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Tyr380His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Tyr63His
Uncertain significance
Multiple submitters
FLNB-Related Spectrum Disorders
-
FLNB p.Tyr732Cys
Uncertain significance
Multiple submitters
spondylocarpotarsal synostosis syndrome
- FLNB p.Val1055Met Benign/Likely benign Multiple submitters
-
FLNB p.Val1137Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Val1435Leu
Uncertain significance
Multiple submitters
FLNB-related disorder
- FLNB p.Val1466Met Uncertain significance Multiple submitters
-
FLNB p.Val1712Leu
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
FLNB p.Val1793Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Val2155Ile
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
FLNB p.Val2335Met
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
FLNB p.Val2375Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Val357Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Val391Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Val787Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FLNB p.Val795Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FLNB p.Val870Leu Uncertain significance Multiple submitters
- FLNB p.Ala1045Thr Uncertain significance Single submitter
-
FLNB p.Ala1059Val
Conflicting
Single submitter
connective tissue disorder
- FLNB p.Ala1068Ser Uncertain significance Single submitter
- FLNB p.Ala1151Asp Uncertain significance Single submitter
- FLNB p.Ala1161Gly Uncertain significance Single submitter
-
FLNB p.Ala1453Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FLNB p.Ala1577Val
Conflicting
Single submitter
spondylocarpotarsal synostosis syndrome
- FLNB p.Ala1619Val Uncertain significance Single submitter
- FLNB p.Ala1864Thr Uncertain significance Single submitter
- FLNB p.Ala1924Thr Uncertain significance Single submitter
- FLNB p.Ala1940Ser Uncertain significance Single submitter
- FLNB p.Ala2002Ser Uncertain significance Single submitter
- FLNB p.Ala2038Val Uncertain significance Single submitter
-
FLNB p.Ala2076Thr
Conflicting
Single submitter
FLNB-Related Spectrum Disorders
- FLNB p.Ala2105Thr Uncertain significance Single submitter
- FLNB p.Ala2131Gly Uncertain significance Single submitter
- FLNB p.Ala2236Thr Uncertain significance Single submitter
- FLNB p.Ala2282Thr Uncertain significance Single submitter
- FLNB p.Ala2287Thr Uncertain significance Single submitter
- FLNB p.Ala2315Thr Likely benign Single submitter
- FLNB p.Ala2329Val Uncertain significance Single submitter
- FLNB p.Ala2389Thr Likely benign Single submitter
-
FLNB p.Ala2446Val
Uncertain significance
Single submitter
Inborn genetic diseases
- FLNB p.Ala2512Ser Uncertain significance Single submitter
- FLNB p.Ala259Ser Uncertain significance Single submitter
- FLNB p.Ala284Ser Likely benign Single submitter
- FLNB p.Ala371Thr Uncertain significance Single submitter
- FLNB p.Ala433Val Uncertain significance Single submitter
- FLNB p.Ala449Val Uncertain significance Single submitter
-
FLNB p.Ala547Val
Conflicting
Single submitter
FLNB-Related Spectrum Disorders
- FLNB p.Ala634Thr Uncertain significance Single submitter
-
FLNB p.Ala713Asp
Uncertain significance
Single submitter
atelosteogenesis type III
- FLNB p.Ala713Thr Likely benign Single submitter
- FLNB p.Ala850Thr Uncertain significance Single submitter
- FLNB p.Ala940Val Uncertain significance Single submitter
- FLNB p.Arg1009Gly Uncertain significance Single submitter
- FLNB p.Arg1009Trp Uncertain significance Single submitter
- FLNB p.Arg1219Trp Conflicting Single submitter
All FLNB variants
Pathogenic 78
- p.Arg1948Ter Multiple submitters spondylocarpotarsal synostosis syndrome
- p.Arg649Ter Multiple submitters FLNB-Related Spectrum Disorders
- p.Glu227Lys Multiple submitters Larsen syndrome
- p.Gly1691Ser Multiple submitters Boomerang dysplasia ⚠
- p.Gly2206Ter Multiple submitters
- p.Gly361Asp Multiple submitters Larsen syndrome
- p.His532fs Multiple submitters spondylocarpotarsal synostosis syndrome
- p.Ser581fs Multiple submitters
- c.1346-1358_1941+403del Single submitter spondylocarpotarsal synostosis syndrome
- c.3127-354_4223-1836del Single submitter spondylocarpotarsal synostosis syndrome
- c.5555-5_5561del Single submitter spondylocarpotarsal synostosis syndrome
- p.Ala1643Val Single submitter Larsen syndrome
- p.Ala170fs Single submitter
- p.Ala173Val Single submitter atelosteogenesis type I
- p.Ala201Thr Single submitter
- p.Ala205Ser Single submitter
- p.Ala971fs Single submitter
- p.Arg1436Ter Single submitter
- p.Arg1545Ter Single submitter
- p.Arg2004Ter Single submitter spondylocarpotarsal synostosis syndrome
- p.Arg2411Ter Single submitter
- p.Arg415Ter Single submitter spondylocarpotarsal synostosis syndrome
- p.Arg460Ter Single submitter
- p.Arg818Ter Single submitter spondylocarpotarsal synostosis syndrome
- p.Asn1779fs Single submitter
- p.Asn451fs Single submitter
- p.Cys1915Ter Single submitter
- p.Cys1952fs Single submitter
- p.Gln2160fs Single submitter
- p.Gln304Ter Single submitter
- p.Gln336Ter Single submitter
- p.Glu1239Ter Single submitter
- p.Glu1340fs Single submitter
- p.Glu1708fs Single submitter
- p.Glu1775fs Single submitter
- p.Glu2491fs Single submitter
- p.Glu498fs Single submitter spondylocarpotarsal synostosis syndrome
- p.Gly1237fs Single submitter
- p.Gly1646Asp Single submitter
- p.Gly361Ser Single submitter Larsen syndrome
- p.Gly363Arg Single submitter
- p.Ile102fs Single submitter
- p.Ile2070fs Single submitter
- p.Ile370fs Single submitter
- p.Leu364Ter Single submitter
- p.Lys1232fs Single submitter
- p.Lys16fs Single submitter
- p.Lys2150fs Single submitter
- p.Lys31fs Single submitter
- p.Lys877Ter Single submitter
- p.Met1492fs Single submitter
- p.Pro1603Ser Single submitter atelosteogenesis type I
- p.Ser1821fs Single submitter
- p.Ser2113fs Single submitter
- p.Ser346_Val347insTer Single submitter
- p.Ser789fs Single submitter
- p.Thr2485fs Single submitter
- p.Trp208Ter Single submitter
- p.Trp555Ter Single submitter
- p.Tyr1580Asp Single submitter
- p.Tyr1594Ser Single submitter
- p.Tyr1802Ter Single submitter
- p.Tyr2260Ter Single submitter
- p.Tyr315Ter Single submitter
- p.Val1195fs Single submitter
- p.Val1481fs Single submitter
- p.Val402fs Single submitter spondylocarpotarsal synostosis syndrome
- p.Val467fs Single submitter
- p.Val477fs Single submitter spondylocarpotarsal synostosis syndrome
- p.Val958fs Single submitter
- p.Ala173Thr No assertion criteria atelosteogenesis type I
- p.Gly1586Arg No assertion criteria Larsen syndrome
- p.Gly1834Arg No assertion criteria Larsen syndrome
- p.Gly1850Ter No assertion criteria spondylocarpotarsal synostosis syndrome
- p.Leu171Arg No assertion criteria Boomerang dysplasia
- p.Met202Val No assertion criteria atelosteogenesis type I
- p.Ser2137fs No assertion criteria spondylocarpotarsal synostosis syndrome
- p.Ser235Pro No assertion criteria Boomerang dysplasia
Pathogenic/Likely pathogenic 6
- c.4390+2T>C Multiple submitters
- p.Arg1463Ter Multiple submitters
- p.Gly168Ser Multiple submitters FLNB-related disorder ⚠
- p.Gly1691Asp Multiple submitters Larsen syndrome ⚠
- p.Ser1371Ter Multiple submitters
- p.Tyr1395Ter Multiple submitters FLNB-related disorder
Likely pathogenic 69
- c.5110-1G>A Multiple submitters
- p.Asp167Gly Multiple submitters ⚠
- p.Glu1792del Multiple submitters Patellar hypoplasia
- p.Phe161Cys Multiple submitters connective tissue disorder
- c.1345+2T>C Single submitter spondylocarpotarsal synostosis syndrome
- c.1346-253_1380del Single submitter
- c.1610+2_1610+4del Single submitter
- c.1942-2_1945del Single submitter
- c.2576-2A>T Single submitter
- c.2745+2T>C Single submitter
- c.2863+1G>A Single submitter
- c.292+1G>T Single submitter
- c.3725-2A>G Single submitter
- c.4222+2T>G Single submitter
- c.4390+1G>A Single submitter
- c.4514+1G>A Single submitter
- c.4861+2T>C Single submitter
- c.4861+2T>G Single submitter Larsen syndrome
- c.541+1G>A Single submitter connective tissue disorder
- c.5425+1G>A Single submitter
- c.5425+2T>C Single submitter
- c.5554+1G>A Single submitter FLNB-related disorder
- c.6889-2A>G Single submitter spondylocarpotarsal synostosis syndrome
- c.7198+1G>A Single submitter
- c.7199-1G>A Single submitter
- c.7417+2T>A Single submitter spondylocarpotarsal synostosis syndrome
- p.Ala1517Asp Single submitter Larsen syndrome
- p.Ala1547Asp Single submitter
- p.Ala240Thr Single submitter
- p.Arg1607Ter Single submitter spondylocarpotarsal synostosis syndrome
- p.Asn1571del Single submitter Larsen syndrome
- p.Asn197Lys Single submitter Larsen syndrome
- p.Asp1781fs Single submitter FLNB-related disorder
- p.Cys1095fs Single submitter spondylocarpotarsal synostosis syndrome
- p.Gln213Ter Single submitter FLNB-related disorder
- p.Glu1000fs Single submitter Short stature
- p.Glu10Ter Single submitter spondylocarpotarsal synostosis syndrome
- p.Glu1179Ter Single submitter spondylocarpotarsal synostosis syndrome
- p.Gly1149fs Single submitter spondylocarpotarsal synostosis syndrome
- p.Gly1524Ser Single submitter Larsen syndrome
- p.Gly1612Arg Single submitter
- p.Gly1612Ser Single submitter
- p.Gly168Cys Single submitter
- p.Gly361Cys Single submitter Larsen syndrome
- p.Gly580Val Single submitter atelosteogenesis type III
- p.Gly751Arg Single submitter atelosteogenesis type III
- p.Ile1590fs Single submitter spondylocarpotarsal synostosis syndrome
- p.Ile1590Thr Single submitter ⚠
- p.Ile215Asn Single submitter atelosteogenesis type III
- p.Ile215del Single submitter atelosteogenesis type I
- p.Leu1431Arg Single submitter Larsen syndrome
- p.Met202Thr Single submitter
- p.Met75fs Single submitter spondylocarpotarsal synostosis syndrome
- p.Phe2023Ser Single submitter
- p.Phe825fs Single submitter spondylocarpotarsal synostosis syndrome
- p.Pro1141fs Single submitter
- p.Ser1535Asn Single submitter Larsen syndrome ⚠
- p.Thr923_Tyr924insTer Single submitter spondylocarpotarsal synostosis syndrome
- p.Trp208Gly Single submitter
- p.Trp208Leu Single submitter arthrogryposis
- p.Tyr1515Ter Single submitter Larsen syndrome
- p.Tyr1676fs Single submitter spondylocarpotarsal synostosis syndrome
- p.Tyr1818Ter Single submitter
- p.Tyr233fs Single submitter spondylocarpotarsal synostosis syndrome
- p.Val317fs Single submitter spondylocarpotarsal synostosis syndrome
- p.Val839Asp Single submitter
- p.Val936Met Single submitter Larsen syndrome ⚠
- p.Ala205Val No assertion criteria FLNB-related disorder
- p.Val175Ala No assertion criteria FLNB-related disorder
Conflicting classifications of pathogenicity 262
- c.1148-8T>G Single submitter FLNB-Related Spectrum Disorders
- c.1748-5C>G Single submitter FLNB-Related Spectrum Disorders
- c.2484+2T>C Single submitter Inborn genetic diseases
- c.2575+12C>T Single submitter FLNB-Related Spectrum Disorders
- c.3898+7C>T Single submitter FLNB-Related Spectrum Disorders
- c.4061+4G>A Single submitter connective tissue disorder
- c.4062-13C>G Single submitter
- c.4062-8C>T Single submitter FLNB-Related Spectrum Disorders
- c.4391-825T>C Single submitter
- c.4671+5C>G Single submitter
- c.5729-4C>T Single submitter FLNB-Related Spectrum Disorders
- c.6245-5T>C Single submitter
- c.6367+7G>C Single submitter
- c.6634+11C>T Single submitter FLNB-Related Spectrum Disorders
- c.7417+5C>T Single submitter Inborn genetic diseases
- c.7418-5C>A Single submitter
- c.906+3A>G Single submitter Inborn genetic diseases
- c.985-5T>G Single submitter
- p.Ala1059Val Single submitter connective tissue disorder ⚠
- p.Ala1165Ser Single submitter Inborn genetic diseases ⚠
- p.Ala1218Thr Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Ala1225Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1276Ser Single submitter ⚠
- p.Ala1356Thr Single submitter spondylocarpotarsal synostosis syndrome ⚠
- p.Ala1577Val Single submitter spondylocarpotarsal synostosis syndrome ⚠
- p.Ala1625Thr Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Ala1660Thr Single submitter connective tissue disorder ⚠
- p.Ala1836Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1944Thr Single submitter Inborn genetic diseases ⚠
- p.Ala2076Thr Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Ala2223Thr Single submitter Inborn genetic diseases ⚠
- p.Ala2389= Single submitter FLNB-Related Spectrum Disorders
- p.Ala2504Thr Single submitter ⚠
- p.Ala2512Thr Single submitter Inborn genetic diseases ⚠
- p.Ala275= Single submitter FLNB-Related Spectrum Disorders
- p.Ala512Thr Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Ala547Val Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Ala832Thr Single submitter Inborn genetic diseases ⚠
- p.Arg1219Trp Single submitter ⚠
- p.Arg1245Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1256Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1436Gln Single submitter ⚠
- p.Arg1438His Single submitter Boomerang dysplasia ⚠
- p.Arg1587His Single submitter ⚠
- p.Arg1605Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1605His Single submitter ⚠
- p.Arg1914Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1948Gln Single submitter ⚠
- p.Arg2010Cys Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Arg2010His Single submitter ⚠
- p.Arg2016Gln Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Arg2104Trp Single submitter ⚠
- p.Arg2172Cys Single submitter Inborn genetic diseases ⚠
- p.Arg2172His Single submitter Inborn genetic diseases ⚠
- p.Arg2197Gln Single submitter Inborn genetic diseases ⚠
- p.Arg2219Gln Single submitter Inborn genetic diseases ⚠
- p.Arg2346Cys Single submitter Inborn genetic diseases ⚠
- p.Arg2374Cys Single submitter Inborn genetic diseases ⚠
- p.Arg2374His Single submitter ⚠
- p.Arg2475His Single submitter Inborn genetic diseases ⚠
- p.Arg36His Single submitter connective tissue disorder ⚠
- p.Arg456Gln Single submitter Inborn genetic diseases ⚠
- p.Arg468Cys Single submitter FLNB-related disorder ⚠
- p.Arg470Gln Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Arg553His Single submitter ⚠
- p.Arg566Gln Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Arg649Gln Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Arg691Cys Single submitter ⚠
- p.Arg699Gln Single submitter ⚠
- p.Arg699Trp Single submitter connective tissue disorder ⚠
- p.Arg786Trp Single submitter Inborn genetic diseases ⚠
- p.Arg818Gln Single submitter Inborn genetic diseases ⚠
- p.Arg999Pro Single submitter Inborn genetic diseases ⚠
- p.Asn106Ser Single submitter ⚠
- p.Asn1090Ser Single submitter ⚠
- p.Asn1347Ser Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Asn1837Ser Single submitter Inborn genetic diseases ⚠
- p.Asn2483Ser Single submitter ⚠
- p.Asn453Ser Single submitter Inborn genetic diseases ⚠
- p.Asn881= Single submitter FLNB-Related Spectrum Disorders
- p.Asp1064Asn Single submitter Inborn genetic diseases ⚠
- p.Asp1089Asn Single submitter ⚠
- p.Asp1264Glu Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Asp1476His Single submitter ⚠
- p.Asp1499Asn Single submitter connective tissue disorder ⚠
- p.Asp1598Asn Single submitter Inborn genetic diseases ⚠
- p.Asp167Glu Single submitter Larsen syndrome ⚠
- p.Asp2001= Single submitter FLNB-Related Spectrum Disorders
- p.Asp2285Asn Single submitter Inborn genetic diseases ⚠
- p.Asp2286Asn Single submitter Inborn genetic diseases ⚠
- p.Asp288= Single submitter connective tissue disorder
- p.Asp435Asn Single submitter Inborn genetic diseases ⚠
- p.Asp598Asn Single submitter Inborn genetic diseases ⚠
- p.Asp623Val Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Asp629Glu Single submitter Inborn genetic diseases ⚠
- p.Cys2537Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln1260Pro Single submitter Inborn genetic diseases ⚠
- p.Gln304Arg Single submitter ⚠
- p.Gln599Arg Single submitter Inborn genetic diseases ⚠
- p.Glu1011Ala Single submitter ⚠
- p.Glu1211Lys Single submitter Inborn genetic diseases ⚠
- p.Glu1730Lys Single submitter ⚠
- p.Glu1973Lys Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Glu2395Lys Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Glu514Lys Single submitter ⚠
- p.Gly1262Arg Single submitter FLNB-related disorder ⚠
- p.Gly1408Ser Single submitter Larsen syndrome ⚠
- p.Gly1635Ser Single submitter ⚠
- p.Gly1758= Single submitter
- p.Gly1794Arg Single submitter Inborn genetic diseases ⚠
- p.Gly1804Arg Single submitter Inborn genetic diseases ⚠
- p.Gly2000= Single submitter
- p.Gly2055Asp Single submitter atelosteogenesis type III ⚠
- p.Gly2178Ser Single submitter Inborn genetic diseases ⚠
- p.Gly2222= Single submitter FLNB-Related Spectrum Disorders
- p.Gly2457Ser Single submitter ⚠
- p.Gly363= Single submitter
- p.Gly383Arg Single submitter spondylocarpotarsal synostosis syndrome ⚠
- p.Gly530Trp Single submitter atelosteogenesis type III ⚠
- p.Gly565Arg Single submitter Boomerang dysplasia ⚠
- p.Gly687Arg Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Gly702Ser Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Gly925Cys Single submitter Larsen syndrome ⚠
- p.Gly973= Single submitter
- p.His1046= Single submitter FLNB-Related Spectrum Disorders
- p.His2079= Single submitter FLNB-Related Spectrum Disorders
- p.His2355= Single submitter FLNB-Related Spectrum Disorders
- p.His2598= Single submitter connective tissue disorder
- p.His560Arg Single submitter Inborn genetic diseases ⚠
- p.His729= Single submitter FLNB-Related Spectrum Disorders
- p.His843= Single submitter FLNB-Related Spectrum Disorders
- p.Ile1063Val Single submitter Inborn genetic diseases ⚠
- p.Ile1542Thr Single submitter Larsen syndrome ⚠
- p.Ile1776Thr Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Ile1869Thr Single submitter Inborn genetic diseases ⚠
- p.Ile2070= Single submitter FLNB-Related Spectrum Disorders
- p.Ile2228Thr Single submitter Inborn genetic diseases ⚠
- p.Ile2264Val Single submitter Inborn genetic diseases ⚠
- p.Ile2281= Single submitter
- p.Ile2310Val Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Ile2547= Single submitter FLNB-Related Spectrum Disorders
- p.Ile379Val Single submitter Inborn genetic diseases ⚠
- p.Ile430Met Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Ile563Thr Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Ile821Val Single submitter Inborn genetic diseases ⚠
- p.Leu1928= Single submitter connective tissue disorder
- p.Leu2052= Single submitter
- p.Leu2394= Single submitter FLNB-Related Spectrum Disorders
- p.Leu462= Single submitter FLNB-Related Spectrum Disorders
- p.Leu94= Single submitter connective tissue disorder
- p.Lys1057Gln Single submitter connective tissue disorder ⚠
- p.Lys1221Glu Single submitter ⚠
- p.Lys2058Arg Single submitter connective tissue disorder ⚠
- p.Lys2074Arg Single submitter Inborn genetic diseases ⚠
- p.Lys2265Arg Single submitter ⚠
- p.Lys399Arg Single submitter connective tissue disorder ⚠
- p.Lys712= Single submitter FLNB-Related Spectrum Disorders
- p.Lys744Arg Single submitter Inborn genetic diseases ⚠
- p.Met1206Val Single submitter atelosteogenesis type I ⚠
- p.Met270Val Single submitter connective tissue disorder ⚠
- p.Met633Val Single submitter ⚠
- p.Met700Leu Single submitter connective tissue disorder ⚠
- p.Phe1251= Single submitter FLNB-Related Spectrum Disorders
- p.Phe1390= Single submitter FLNB-Related Spectrum Disorders
- p.Phe1411Leu Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Phe1724Tyr Single submitter Inborn genetic diseases ⚠
- p.Phe1753Cys Single submitter Inborn genetic diseases ⚠
- p.Phe2347Leu Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Phe964Leu Single submitter spondylocarpotarsal synostosis syndrome ⚠
- p.Pro1048= Single submitter
- p.Pro1257Leu Single submitter ⚠
- p.Pro1296Ser Single submitter Inborn genetic diseases ⚠
- p.Pro1681= Single submitter
- p.Pro1681Arg Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Pro191Leu Single submitter atelosteogenesis type III ⚠
- p.Pro1989= Single submitter
- p.Pro2233Ser Single submitter Inborn genetic diseases ⚠
- p.Pro2272Leu Single submitter Inborn genetic diseases ⚠
- p.Pro254= Single submitter FLNB-Related Spectrum Disorders
- p.Pro266= Single submitter FLNB-Related Spectrum Disorders
- p.Pro520Leu Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Pro679Ser Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Pro728Leu Single submitter ⚠
- p.Pro865Leu Single submitter Inborn genetic diseases ⚠
- p.Pro941Leu Single submitter Inborn genetic diseases ⚠
- p.Pro990Ser Single submitter ⚠
- p.Ser1096= Single submitter FLNB-Related Spectrum Disorders
- p.Ser1159Leu Single submitter connective tissue disorder ⚠
- p.Ser1174= Single submitter FLNB-Related Spectrum Disorders
- p.Ser1602Tyr Single submitter atelosteogenesis type I ⚠
- p.Ser2036= Single submitter FLNB-Related Spectrum Disorders
- p.Ser2113Thr Single submitter Inborn genetic diseases ⚠
- p.Ser2247Leu Single submitter Inborn genetic diseases ⚠
- p.Ser2298Leu Single submitter Inborn genetic diseases ⚠
- p.Ser2388= Single submitter FLNB-Related Spectrum Disorders
- p.Ser2418= Single submitter FLNB-Related Spectrum Disorders
- p.Ser2496Leu Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Ser484Thr Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Ser603Leu Single submitter ⚠
- p.Ser707Leu Single submitter Inborn genetic diseases ⚠
- p.Thr1070Ile Single submitter ⚠
- p.Thr1198= Single submitter FLNB-related disorder
- p.Thr1203Met Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Thr1353Ser Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Thr140= Single submitter connective tissue disorder
- p.Thr1575Met Single submitter Inborn genetic diseases ⚠
- p.Thr1609Ile Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Thr1783Met Single submitter ⚠
- p.Thr1939Met Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Thr2166Met Single submitter ⚠
- p.Thr2177= Single submitter FLNB-Related Spectrum Disorders
- p.Thr2485Ile Single submitter Inborn genetic diseases ⚠
- p.Thr2554= Single submitter FLNB-Related Spectrum Disorders
- p.Thr381Met Single submitter Inborn genetic diseases ⚠
- p.Thr669Ala Single submitter FLNB-related disorder ⚠
- p.Thr766Met Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Trp2587Leu Single submitter Inborn genetic diseases ⚠
- p.Trp529Ser Single submitter Inborn genetic diseases ⚠
- p.Tyr121Phe Single submitter ⚠
- p.Tyr1395= Single submitter FLNB-Related Spectrum Disorders
- p.Tyr1530= Single submitter FLNB-Related Spectrum Disorders
- p.Tyr1684Cys Single submitter ⚠
- p.Tyr1687His Single submitter Larsen syndrome ⚠
- p.Tyr2008Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr2252Phe Single submitter Inborn genetic diseases ⚠
- p.Tyr651= Single submitter connective tissue disorder
- p.Val1018Met Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Val1055Leu Single submitter ⚠
- p.Val1097Ile Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Val1109Ile Single submitter atelosteogenesis type III ⚠
- p.Val1137Met Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Val1171Leu Single submitter Inborn genetic diseases ⚠
- p.Val1195Met Single submitter connective tissue disorder ⚠
- p.Val1226Met Single submitter Inborn genetic diseases ⚠
- p.Val1472Met Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Val1592Ile Single submitter ⚠
- p.Val1712Met Single submitter Inborn genetic diseases ⚠
- p.Val1793= Single submitter connective tissue disorder
- p.Val1845Ile Single submitter Inborn genetic diseases ⚠
- p.Val2025Met Single submitter atelosteogenesis type III ⚠
- p.Val2039Met Single submitter Inborn genetic diseases ⚠
- p.Val2065= Single submitter FLNB-Related Spectrum Disorders
- p.Val2065Met Single submitter Inborn genetic diseases ⚠
- p.Val2071Ile Single submitter Inborn genetic diseases ⚠
- p.Val2133Ile Single submitter ⚠
- p.Val2375Ile Single submitter ⚠
- p.Val2419Ile Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Val289Met Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Val3= Single submitter FLNB-Related Spectrum Disorders
- p.Val406Met Single submitter Inborn genetic diseases ⚠
- p.Val417Met Single submitter ⚠
- p.Val443Ile Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Val443Leu Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Val543Ala Single submitter Inborn genetic diseases ⚠
- p.Val564= Single submitter FLNB-Related Spectrum Disorders
- p.Val571Met Single submitter ⚠
- p.Val721Ala Single submitter Inborn genetic diseases ⚠
- p.Val725Met Single submitter ⚠
- p.Val839Ala Single submitter ⚠
- p.Val882Met Single submitter Inborn genetic diseases ⚠
- p.Val979Met Single submitter FLNB-Related Spectrum Disorders ⚠
- p.Val989Met Single submitter Inborn genetic diseases ⚠
Benign 166
- c.1345+160A>G Multiple submitters
- c.1345+260A>C Multiple submitters
- c.1484-101T>A Multiple submitters
- c.1484-170A>G Multiple submitters
- c.1610+39G>A Multiple submitters
- c.1610+65A>G Multiple submitters
- c.1611-4G>A Multiple submitters FLNB-Related Spectrum Disorders
- c.1748-199A>T Multiple submitters
- c.1748-201A>T Multiple submitters
- c.1748-203A>T Multiple submitters
- c.1748-61A>G Multiple submitters
- c.1942-28A>G Multiple submitters
- c.2055+274del Multiple submitters
- c.2056-54C>T Multiple submitters
- c.2323+40G>T Multiple submitters
- c.2323+74G>T Multiple submitters
- c.2484+48T>G Multiple submitters
- c.2485-122T>C Multiple submitters
- c.2485-161C>T Multiple submitters
- c.292+136T>A Multiple submitters
- c.293-162C>A Multiple submitters
- c.293-59A>T Multiple submitters
- c.3724+35_3724+36del Multiple submitters
- c.3898+28C>G Multiple submitters
- c.3899-180G>A Multiple submitters
- c.3899-197C>T Multiple submitters
- c.3899-23T>G Multiple submitters
- c.4062-5T>G Multiple submitters FLNB-Related Spectrum Disorders
- c.4062-78A>G Multiple submitters
- c.4222+67G>C Multiple submitters
- c.4223-110C>G Multiple submitters
- c.4223-110C>T Multiple submitters
- c.4223-152A>G Multiple submitters
- c.4223-99T>C Multiple submitters
- c.4390+740T>G Multiple submitters
- c.4390+826G>A Multiple submitters
- c.4390+889G>A Multiple submitters
- c.4391-703T>C Multiple submitters
- c.4391-811G>A Multiple submitters
- c.4391-871G>A Multiple submitters
- c.4514+42A>G Multiple submitters
- c.4672-80T>A Multiple submitters
- c.4861+87C>T Multiple submitters
- c.5181+171C>T Multiple submitters
- c.5285-271G>C Multiple submitters
- c.5426-133C>T Multiple submitters
- c.5728+88G>A Multiple submitters
- c.5728+89C>T Multiple submitters
- c.5729-134G>C Multiple submitters
- c.6367+97C>T Multiple submitters
- c.6634+29G>T Multiple submitters
- c.6634+34G>A Multiple submitters
- c.6772+113G>A Multiple submitters
- c.6889-18G>A Multiple submitters
- c.7417+205C>G Multiple submitters
- c.7417+286T>C Multiple submitters
- c.7417+29C>T Multiple submitters
- c.7418-87C>G Multiple submitters
- c.7621+42C>T Multiple submitters
- c.7622-126G>A Multiple submitters
- c.7622-92T>C Multiple submitters
- c.788-58G>T Multiple submitters
- c.985-96G>A Multiple submitters
- c.-31C>T Multiple submitters FLNB-Related Spectrum Disorders
- c.*1030G>C Multiple submitters FLNB-Related Spectrum Disorders
- c.*1122T>C Multiple submitters FLNB-Related Spectrum Disorders
- c.*200C>T Multiple submitters FLNB-Related Spectrum Disorders
- c.*581C>T Multiple submitters FLNB-Related Spectrum Disorders
- c.*675G>A Multiple submitters FLNB-Related Spectrum Disorders
- p.Ala1286Val Multiple submitters FLNB-Related Spectrum Disorders ⚠
- p.Ala1391= Multiple submitters FLNB-Related Spectrum Disorders
- p.Ala240= Multiple submitters
- p.Ala83= Multiple submitters FLNB-Related Spectrum Disorders
- p.Asn1697= Multiple submitters FLNB-Related Spectrum Disorders
- p.Asp1157Asn Multiple submitters FLNB-Related Spectrum Disorders ⚠
- p.Asp623= Multiple submitters FLNB-Related Spectrum Disorders
- p.Glu1179Lys Multiple submitters FLNB-Related Spectrum Disorders
- p.Ile264= Multiple submitters connective tissue disorder
- p.Pro1026= Multiple submitters connective tissue disorder
- p.Pro1407= Multiple submitters FLNB-Related Spectrum Disorders
- p.Ser2403= Multiple submitters FLNB-Related Spectrum Disorders
- p.Ser2453= Multiple submitters FLNB-Related Spectrum Disorders
- p.Ser309= Multiple submitters FLNB-Related Spectrum Disorders
- p.Val1471Met Multiple submitters FLNB-Related Spectrum Disorders
- p.Val2146= Multiple submitters FLNB-Related Spectrum Disorders
- c.1484-90del Single submitter
- c.1610+130del Single submitter
- c.1747+155C>T Single submitter
- c.1942-336A>C Single submitter
- c.2055+221G>A Single submitter
- c.2200-41A>G Single submitter
- c.2484+297dup Single submitter
- c.2745+17C>G Single submitter
- c.2863+161G>A Single submitter
- c.293-17T>G Single submitter
- c.293-263G>A Single submitter
- c.3126+314C>T Single submitter
- c.3127-269T>C Single submitter
- c.3127-305T>C Single submitter
- c.3724+34_3724+36del Single submitter
- c.3724+36dup Single submitter
- c.3725-192C>T Single submitter
- c.3725-287A>G Single submitter
- c.3725-311T>A Single submitter
- c.4061+291G>A Single submitter
- c.4062-267G>A Single submitter
- c.4223-48G>T Single submitter
- c.4391-291_4391-290insAA Single submitter
- c.4514+277A>G Single submitter
- c.4514+300G>T Single submitter
- c.4514+308C>T Single submitter
- c.4515-24GT[7] Single submitter
- c.4861+265T>C Single submitter
- c.5285-168del Single submitter
- c.541+282G>C Single submitter
- c.541+288G>C Single submitter
- c.541+310C>T Single submitter
- c.5425+110A>G Single submitter
- c.5554+203C>T Single submitter
- c.5729-121del Single submitter
- c.6368-314C>T Single submitter
- c.6634+8T>C Single submitter
- c.6635-230del Single submitter
- c.6635-282C>G Single submitter
- c.6635-282C>T Single submitter
- c.6773-199C>T Single submitter
- c.6888+72_6888+73del Single submitter
- c.7021+24dup Single submitter
- c.7199-199G>A Single submitter
- c.7199-283A>C Single submitter
- c.7622-275T>C Single submitter
- c.787+292C>T Single submitter
- c.788-163C>T Single submitter
- c.906+274_906+275insTTAT Single submitter
- c.906+274_906+275insTTATTTATTTAT Single submitter
- c.906+274_906+275insTTATTTATTTATTTAT Single submitter
- c.906+275G>T Single submitter
- c.906+276TATT[11] Single submitter
- c.906+276TATT[12] Single submitter
- c.906+278_906+279insGTATTTATTTAT Single submitter
- c.906+326G>C Single submitter
- c.984+15C>T Single submitter
- c.*1217G>A Single submitter FLNB-Related Spectrum Disorders
- c.*1370G>A Single submitter FLNB-Related Spectrum Disorders
- c.*479G>T Single submitter FLNB-Related Spectrum Disorders
- c.*592C>G Single submitter FLNB-Related Spectrum Disorders
- c.*657T>C Single submitter FLNB-Related Spectrum Disorders
- p.Arg1914Trp Single submitter ⚠
- p.Asn644Asp Single submitter
- p.Asp1157= Single submitter
- p.Asp1310= Single submitter
- p.Asp1473Asn Single submitter ⚠
- p.Glu1160Val Single submitter
- p.Gly2192= Single submitter
- p.Gly874= Single submitter
- p.Lys1745Gln Single submitter
- p.Phe1842= Single submitter
- p.Pro1468Leu Single submitter ⚠
- p.Ser1159= Single submitter
- p.Ser2496= Single submitter
- p.Thr1062Ile Single submitter ⚠
- p.Thr1350= Single submitter
- p.Thr2049= Single submitter
- p.Val1156Ile Single submitter ⚠
- p.Val2463Leu Single submitter
- p.Val882Leu Single submitter ⚠
Benign/Likely benign 67
- c.292+12G>C Multiple submitters FLNB-Related Spectrum Disorders
- c.292+14C>G Multiple submitters FLNB-Related Spectrum Disorders
- c.292+8C>A Multiple submitters connective tissue disorder
- c.3724+36del Multiple submitters
- c.3898+19G>A Multiple submitters
- c.4222+19A>C Multiple submitters
- c.4222+8A>G Multiple submitters connective tissue disorder
- c.4390+8T>A Multiple submitters FLNB-Related Spectrum Disorders
- c.4515-24GT[4] Multiple submitters
- c.4671+11G>A Multiple submitters FLNB-Related Spectrum Disorders
- c.4672-11A>G Multiple submitters
- c.5426-10G>A Multiple submitters connective tissue disorder
- c.5887+8A>G Multiple submitters FLNB-Related Spectrum Disorders
- c.6773-13C>A Multiple submitters
- c.7198+20C>G Multiple submitters
- p.Ala1679= Multiple submitters
- p.Ala1923= Multiple submitters FLNB-Related Spectrum Disorders
- p.Ala568= Multiple submitters
- p.Arg2139His Multiple submitters Inborn genetic diseases ⚠
- p.Arg969= Multiple submitters FLNB-Related Spectrum Disorders
- p.Asn1740= Multiple submitters
- p.Asn369= Multiple submitters connective tissue disorder
- p.Asp1781= Multiple submitters
- p.Asp1929Asn Multiple submitters FLNB-Related Spectrum Disorders ⚠
- p.Asp2077= Multiple submitters connective tissue disorder
- p.Asp348= Multiple submitters FLNB-Related Spectrum Disorders
- p.Asp794= Multiple submitters FLNB-Related Spectrum Disorders
- p.Cys2556= Multiple submitters
- p.Gln1291His Multiple submitters Inborn genetic diseases
- p.Glu625Lys Multiple submitters
- p.Gly1262Ala Multiple submitters connective tissue disorder ⚠
- p.Gly1263Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly2249Ser Multiple submitters Inborn genetic diseases
- p.His2243Arg Multiple submitters
- p.His426= Multiple submitters connective tissue disorder
- p.Ile1624= Multiple submitters FLNB-Related Spectrum Disorders
- p.Ile2228= Multiple submitters FLNB-Related Spectrum Disorders
- p.Ile2319Thr Multiple submitters FLNB-Related Spectrum Disorders
- p.Ile92Val Multiple submitters
- p.Leu2277= Multiple submitters FLNB-Related Spectrum Disorders
- p.Leu2583= Multiple submitters FLNB-Related Spectrum Disorders
- p.Leu977= Multiple submitters connective tissue disorder
- p.Lys2006Arg Multiple submitters connective tissue disorder
- p.Met491Thr Multiple submitters Inborn genetic diseases ⚠
- p.Phe2214= Multiple submitters FLNB-Related Spectrum Disorders
- p.Phe570= Multiple submitters
- p.Pro1080= Multiple submitters connective tissue disorder
- p.Pro1257= Multiple submitters connective tissue disorder
- p.Pro1454= Multiple submitters
- p.Pro1882= Multiple submitters FLNB-Related Spectrum Disorders
- p.Pro223= Multiple submitters FLNB-Related Spectrum Disorders
- p.Pro831= Multiple submitters FLNB-Related Spectrum Disorders
- p.Pro841= Multiple submitters connective tissue disorder
- p.Ser1088= Multiple submitters FLNB-Related Spectrum Disorders
- p.Ser2227Cys Multiple submitters FLNB-Related Spectrum Disorders ⚠
- p.Ser2247= Multiple submitters FLNB-Related Spectrum Disorders
- p.Thr324= Multiple submitters
- p.Thr640Met Multiple submitters connective tissue disorder ⚠
- p.Tyr1030= Multiple submitters FLNB-Related Spectrum Disorders
- p.Tyr1815= Multiple submitters
- p.Val1055Met Multiple submitters ⚠
- p.Val1459= Multiple submitters
- p.Val1712Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val2155Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val2335Met Multiple submitters Inborn genetic diseases ⚠
- p.Val2367Ile Multiple submitters FLNB-Related Spectrum Disorders
- p.Val2454Ile Multiple submitters FLNB-Related Spectrum Disorders
Likely benign 959
Showing the top 300 by review status; the full set is in the sitemap.
- c.1483+131C>G Multiple submitters
- c.1483+35G>A Multiple submitters
- c.1611-171A>G Multiple submitters
- c.1747+15C>A Multiple submitters
- c.1748-210G>T Multiple submitters
- c.2200-12T>C Multiple submitters
- c.2323+73T>C Multiple submitters
- c.2484+19G>A Multiple submitters
- c.2484+8G>T Multiple submitters
- c.2485-17C>T Multiple submitters
- c.293-14G>A Multiple submitters
- c.3724+116C>T Multiple submitters
- c.3724+13_3724+15del Multiple submitters
- c.3898+116G>A Multiple submitters
- c.3899-24G>A Multiple submitters
- c.4391-604C>T Multiple submitters
- c.4391-711C>T Multiple submitters
- c.4671+154G>T Multiple submitters
- c.5181+161G>A Multiple submitters
- c.5181+17T>C Multiple submitters
- c.5284+7A>G Multiple submitters
- c.541+15C>T Multiple submitters
- c.5425+76G>A Multiple submitters
- c.5426-50G>A Multiple submitters
- c.5554+17G>A Multiple submitters
- c.5555-279G>A Multiple submitters
- c.5728+95G>A Multiple submitters
- c.6092-239C>T Multiple submitters
- c.6244+4T>G Multiple submitters FLNB-Related Spectrum Disorders
- c.639+154A>T Multiple submitters
- c.6888+44A>G Multiple submitters
- c.7418-107C>T Multiple submitters
- c.7418-176T>C Multiple submitters
- c.906+106A>G Multiple submitters
- c.984+194C>G Multiple submitters
- c.-97C>T Multiple submitters FLNB-Related Spectrum Disorders
- p.Ala1341Gly Multiple submitters FLNB-Related Spectrum Disorders
- p.Ala1391Val Multiple submitters Inborn genetic diseases
- p.Ala1427= Multiple submitters
- p.Ala1643= Multiple submitters FLNB-Related Spectrum Disorders
- p.Ala1662= Multiple submitters atelosteogenesis type III
- p.Ala170= Multiple submitters
- p.Ala2105= Multiple submitters FLNB-Related Spectrum Disorders
- p.Ala666= Multiple submitters FLNB-Related Spectrum Disorders
- p.Ala858Ser Multiple submitters Inborn genetic diseases
- p.Arg1256Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg1725Lys Multiple submitters Inborn genetic diseases
- p.Arg2101His Multiple submitters Inborn genetic diseases
- p.Arg2411Gln Multiple submitters Inborn genetic diseases
- p.Asn1871Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp2026= Multiple submitters
- p.Cys2154= Multiple submitters
- p.Gln1327= Multiple submitters
- p.Glu1144Gln Multiple submitters FLNB-Related Spectrum Disorders
- p.Glu2590= Multiple submitters
- p.Gly1355= Multiple submitters
- p.Gly1434= Multiple submitters
- p.Gly488Ser Multiple submitters Inborn genetic diseases
- p.Gly614= Multiple submitters
- p.Gly890= Multiple submitters
- p.Gly925Ser Multiple submitters ⚠
- p.His1117= Multiple submitters
- p.Ile1388= Multiple submitters
- p.Ile2024= Multiple submitters
- p.Leu1338= Multiple submitters
- p.Leu487= Multiple submitters
- p.Lys1135= Multiple submitters
- p.Lys340= Multiple submitters
- p.Met1803Leu Multiple submitters spondylocarpotarsal synostosis syndrome
- p.Met2293Leu Multiple submitters Inborn genetic diseases
- p.Phe1108= Multiple submitters
- p.Pro1217= Multiple submitters
- p.Pro1429= Multiple submitters
- p.Pro1525= Multiple submitters
- p.Pro191= Multiple submitters
- p.Pro2279= Multiple submitters
- p.Pro879= Multiple submitters
- p.Ser1172= Multiple submitters Inborn genetic diseases
- p.Ser2107= Multiple submitters Inborn genetic diseases
- p.Ser2487Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ser2510= Multiple submitters
- p.Ser283= Multiple submitters
- p.Thr1783= Multiple submitters
- p.Thr401= Multiple submitters connective tissue disorder
- p.Tyr1483= Multiple submitters
- p.Tyr1827= Multiple submitters
- p.Val1435Ile Multiple submitters Inborn genetic diseases
- p.Val2375= Multiple submitters
- p.Val367= Multiple submitters
- p.Val82= Multiple submitters
- c.1147+10C>G Single submitter
- c.1147+11T>G Single submitter
- c.1147+12C>T Single submitter
- c.1147+16_1147+18del Single submitter
- c.1147+19A>G Single submitter
- c.1147+8G>T Single submitter
- c.1147+9C>T Single submitter
- c.1148-15C>G Single submitter
- c.1148-188G>A Single submitter
- c.1148-4G>A Single submitter
- c.1345+267C>T Single submitter
- c.1346-17C>A Single submitter
- c.1346-19G>A Single submitter
- c.1346-4G>A Single submitter
- c.1483+10C>G Single submitter
- c.1483+13T>G Single submitter
- c.1483+148G>C Single submitter
- c.1483+15_1483+24del Single submitter
- c.1484-10C>T Single submitter
- c.1484-11C>T Single submitter
- c.1484-16T>C Single submitter
- c.1484-195A>C Single submitter
- c.1610+9C>G Single submitter
- c.1611-11T>C Single submitter
- c.1611-13C>T Single submitter
- c.1611-16A>G Single submitter
- c.1611-18C>A Single submitter
- c.1747+12C>T Single submitter
- c.1747+15C>T Single submitter
- c.1747+184G>C Single submitter
- c.1747+19C>T Single submitter
- c.1748-20C>T Single submitter
- c.1748-5C>A Single submitter
- c.1748-5C>T Single submitter
- c.1941+12G>T Single submitter
- c.1941+139TTTG[7] Single submitter
- c.1941+15G>A Single submitter
- c.1941+7C>T Single submitter
- c.1941+9G>A Single submitter
- c.1941+9G>T Single submitter
- c.1942-10T>A Single submitter
- c.1942-12C>T Single submitter
- c.1942-15C>A Single submitter
- c.1942-19C>G Single submitter
- c.1942-20A>G Single submitter
- c.1942-243C>T Single submitter
- c.1942-323dup Single submitter
- c.2055+15G>T Single submitter
- c.2055+16C>A Single submitter
- c.2055+17C>T Single submitter
- c.2055+19C>T Single submitter
- c.2055+252G>A Single submitter
- c.2055+262G>A Single submitter
- c.2056-18G>C Single submitter
- c.2056-18G>T Single submitter
- c.2200-11G>C Single submitter
- c.2200-13A>T Single submitter
- c.2200-14C>T Single submitter
- c.2200-4C>G Single submitter
- c.2200-6C>T Single submitter
- c.2323+11G>A Single submitter
- c.2323+17T>C Single submitter
- c.2323+8A>G Single submitter
- c.2324-10T>C Single submitter
- c.2324-11G>T Single submitter
- c.2324-7G>A Single submitter
- c.2484+11G>C Single submitter
- c.2484+13G>A Single submitter
- c.2484+20A>G Single submitter
- c.2485-13G>A Single submitter
- c.2485-18A>G Single submitter
- c.2485-4A>G Single submitter
- c.2485-6C>T Single submitter
- c.2575+10C>T Single submitter
- c.2575+12C>A Single submitter
- c.2575+13G>A Single submitter
- c.2575+15C>G Single submitter
- c.2575+17A>G Single submitter
- c.2575+18G>A Single submitter
- c.2576-12A>G Single submitter
- c.2576-14G>C Single submitter
- c.2576-15A>G Single submitter
- c.2745+203T>C Single submitter
- c.2746-10C>A Single submitter
- c.2746-19G>C Single submitter
- c.2746-6T>C Single submitter
- c.2864-16T>A Single submitter
- c.2864-309dup Single submitter
- c.2864-72C>T Single submitter
- c.292+15C>T Single submitter
- c.292+16G>C Single submitter
- c.292+16G>T Single submitter
- c.292+18G>A Single submitter
- c.292+283G>A Single submitter
- c.293-11T>A Single submitter
- c.293-11T>G Single submitter
- c.293-15T>G Single submitter
- c.293-20G>A Single submitter
- c.293-6C>T Single submitter
- c.3126+19C>A Single submitter
- c.3126+19C>T Single submitter
- c.3127-12T>C Single submitter
- c.3127-18T>C Single submitter
- c.3127-230G>A Single submitter
- c.3127-277G>T Single submitter
- c.3724+10A>G Single submitter
- c.3724+13_3724+16del Single submitter
- c.3724+13T>A Single submitter
- c.3724+13T>G Single submitter
- c.3724+14A>T Single submitter
- c.3724+15A>G Single submitter
- c.3724+25_3724+36del Single submitter
- c.3724+26_3724+36del Single submitter
- c.3724+9C>T Single submitter
- c.3725-13G>T Single submitter
- c.3725-208C>T Single submitter
- c.3725-4G>A Single submitter
- c.3725-6C>T Single submitter
- c.3725-8C>T Single submitter
- c.3898+171G>T Single submitter
- c.3898+172C>T Single submitter
- c.3898+18C>A Single submitter
- c.3898+18C>T Single submitter
- c.3898+8G>A Single submitter
- c.4061+11C>T Single submitter
- c.4061+13C>G Single submitter
- c.4061+13del Single submitter
- c.4061+16C>T Single submitter
- c.4061+17A>G Single submitter
- c.4061+9G>A Single submitter
- c.4062-11A>G Single submitter
- c.4062-12C>T Single submitter
- c.4062-300C>T Single submitter
- c.4062-5T>C Single submitter
- c.4062-9T>C Single submitter
- c.4222+165del Single submitter
- c.4222+17A>G Single submitter
- c.4222+18G>C Single submitter
- c.4223-16A>G Single submitter
- c.4390+113A>T Single submitter
- c.4390+13C>A Single submitter
- c.4390+14_4390+15del Single submitter
- c.4390+17C>T Single submitter
- c.4390+199C>A Single submitter
- c.4390+861T>G Single submitter
- c.4391-14A>G Single submitter
- c.4391-19C>T Single submitter
- c.4391-596G>A Single submitter
- c.4391-645C>T Single submitter
- c.4391-6C>A Single submitter
- c.4391-877C>T Single submitter
- c.4514+10A>T Single submitter
- c.4514+14A>G Single submitter
- c.4514+16_4514+27del Single submitter
- c.4514+204C>G Single submitter
- c.4514+8C>G Single submitter
- c.4514+9C>T Single submitter
- c.4515-14G>A Single submitter
- c.4671+11G>C Single submitter
- c.4671+14A>G Single submitter
- c.4671+20T>C Single submitter
- c.4671+8G>A Single submitter
- c.4671+9G>C Single submitter
- c.4672-6C>G Single submitter
- c.4861+12del Single submitter
- c.4861+12G>A Single submitter
- c.4861+142G>A Single submitter
- c.4862-12A>T Single submitter
- c.4862-13A>C Single submitter
- c.4862-15del Single submitter
- c.4862-15T>G Single submitter
- c.4862-17C>T Single submitter
- c.4862-19C>T Single submitter
- c.4862-4C>A Single submitter
- c.5109+154A>G Single submitter
- c.5109+326_5109+327del Single submitter
- c.5110-14T>C Single submitter
- c.5110-16A>G Single submitter
- c.5110-183_5110-182del Single submitter
- c.5110-6G>A Single submitter
- c.5110-7T>A Single submitter
- c.5181+12G>T Single submitter
- c.5181+18T>C Single submitter
- c.5181+19C>T Single submitter
- c.5181+292G>A Single submitter
- c.5182-14C>T Single submitter
- c.5284+11G>T Single submitter
- c.5284+14A>G Single submitter
- c.5284+20G>T Single submitter
- c.5284+9T>C Single submitter
- c.5285-11G>C Single submitter
- c.5285-19G>A Single submitter
- c.5285-20C>T Single submitter
- c.5285-4A>T Single submitter
- c.5285-8C>T Single submitter
- c.541+102G>A Single submitter
- c.541+13G>C Single submitter
- c.541+19C>T Single submitter
- c.541+8G>A Single submitter
- c.542-10C>T Single submitter
- c.542-17T>C Single submitter
- c.542-8G>A Single submitter
- c.5425+8G>A Single submitter
- c.5426-11C>T Single submitter
- c.5426-17G>A Single submitter
- c.5426-19G>A Single submitter
- c.5426-19G>T Single submitter
- c.5426-236C>T Single submitter
- c.5426-272_5426-271insAT Single submitter
- c.5426-5C>T Single submitter
Uncertain significance 1193
Showing the top 300 by review status; the full set is in the sitemap.
- c.1748-8C>G Multiple submitters
- c.2056-15_2056-10del Multiple submitters
- c.3724+4G>C Multiple submitters spondylocarpotarsal synostosis syndrome
- c.3724+5G>A Multiple submitters
- c.4391-787T>C Multiple submitters
- c.4862-3C>T Multiple submitters Inborn genetic diseases
- p.Ala1191Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala1191Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala1391Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala1608Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala1704Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala2193Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala2208Val Multiple submitters ⚠
- p.Ala2381Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala259Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala433Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ala547Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala850Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg1438Cys Multiple submitters FLNB-related disorder ⚠
- p.Arg1504Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg1689His Multiple submitters ⚠
- p.Arg2101Leu Multiple submitters FLNB-related disorder ⚠
- p.Arg2288His Multiple submitters Inborn genetic diseases ⚠
- p.Arg2289His Multiple submitters Inborn genetic diseases ⚠
- p.Arg262Lys Multiple submitters ⚠
- p.Arg36Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg566Pro Multiple submitters Inborn genetic diseases ⚠
- p.Arg69Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg999Gln Multiple submitters spondylocarpotarsal synostosis syndrome ⚠
- p.Arg999Trp Multiple submitters Inborn genetic diseases ⚠
- p.Asn162Tyr Multiple submitters ⚠
- p.Asn1718Thr Multiple submitters Inborn genetic diseases ⚠
- p.Asn2245Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn451Ile Multiple submitters Inborn genetic diseases ⚠
- p.Asn862Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asn881His Multiple submitters Inborn genetic diseases ⚠
- p.Asn881Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn885Ser Multiple submitters ⚠
- p.Asn950Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp1092Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp1546Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp1573Asn Multiple submitters ⚠
- p.Asp176Glu Multiple submitters Inborn genetic diseases ⚠
- p.Asp1778Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp196Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp626Tyr Multiple submitters ⚠
- p.Asp686Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp891His Multiple submitters Inborn genetic diseases ⚠
- p.Asp927Asn Multiple submitters Inborn genetic diseases ⚠
- p.Cys1087Phe Multiple submitters Inborn genetic diseases ⚠
- p.Gln273His Multiple submitters ⚠
- p.Gln503Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gln915Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln915Glu Multiple submitters FLNB-related disorder ⚠
- p.Glu1078Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu1086Lys Multiple submitters ⚠
- p.Glu1179Asp Multiple submitters ⚠
- p.Glu1211Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu1293Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu1366Ala Multiple submitters spondylocarpotarsal synostosis syndrome ⚠
- p.Glu1632Lys Multiple submitters ⚠
- p.Glu1661Ala Multiple submitters Inborn genetic diseases ⚠
- p.Glu1661Lys Multiple submitters FLNB-Related Spectrum Disorders ⚠
- p.Glu2332Lys Multiple submitters Larsen syndrome ⚠
- p.Glu486Gln Multiple submitters Inborn genetic diseases ⚠
- p.Glu78Gly Multiple submitters FLNB-Related Spectrum Disorders ⚠
- p.Gly1022Arg Multiple submitters spondylocarpotarsal synostosis syndrome ⚠
- p.Gly1093Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly1325Ser Multiple submitters ⚠
- p.Gly1428Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly1430Arg Multiple submitters ⚠
- p.Gly1464Ala Multiple submitters FLNB-Related Spectrum Disorders ⚠
- p.Gly1548Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly2249Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly2328Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gly2396Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly385Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gly493Val Multiple submitters ⚠
- p.Gly496Cys Multiple submitters connective tissue disorder ⚠
- p.Gly530Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly580Trp Multiple submitters Inborn genetic diseases ⚠
- p.Gly583Glu Multiple submitters ⚠
- p.Gly602Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gly642Asp Multiple submitters ⚠
- p.Gly724Cys Multiple submitters Inborn genetic diseases ⚠
- p.Gly773Ala Multiple submitters ⚠
- p.Gly775Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly817Glu Multiple submitters ⚠
- p.Gly859Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly951Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly970Trp Multiple submitters Inborn genetic diseases ⚠
- p.His1023Arg Multiple submitters ⚠
- p.His1117Arg Multiple submitters FLNB-Related Spectrum Disorders ⚠
- p.His1215Tyr Multiple submitters Inborn genetic diseases ⚠
- p.His2270Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile1007Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ile1866Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile1962Thr Multiple submitters FLNB-related disorder ⚠
- p.Ile2264Met Multiple submitters ⚠
- p.Ile469Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile594Thr Multiple submitters FLNB-related disorder ⚠
- p.Ile718Thr Multiple submitters ⚠
- p.Leu1440Pro Multiple submitters FLNB-Related Spectrum Disorders ⚠
- p.Leu1465Phe Multiple submitters ⚠
- p.Leu2052Val Multiple submitters ⚠
- p.Leu952Met Multiple submitters Inborn genetic diseases ⚠
- p.Lys2150Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys2439Glu Multiple submitters Inborn genetic diseases ⚠
- p.Lys328Glu Multiple submitters ⚠
- p.Lys504Gln Multiple submitters Inborn genetic diseases ⚠
- p.Lys611Asn Multiple submitters Inborn genetic diseases ⚠
- p.Lys628Asn Multiple submitters Inborn genetic diseases ⚠
- p.Met1129Ile Multiple submitters Inborn genetic diseases ⚠
- p.Met1703Leu Multiple submitters Inborn genetic diseases ⚠
- p.Met2445Leu Multiple submitters ⚠
- p.Phe1724Cys Multiple submitters ⚠
- p.Phe2018Ser Multiple submitters Inborn genetic diseases ⚠
- p.Phe683Ser Multiple submitters ⚠
- p.Pro1080Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro1141Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro1236Gln Multiple submitters Inborn genetic diseases ⚠
- p.Pro1336Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro1389Leu Multiple submitters FLNB-related disorder ⚠
- p.Pro1454Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro1468Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro1726Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro191Thr Multiple submitters ⚠
- p.Pro1958His Multiple submitters Inborn genetic diseases ⚠
- p.Pro2063Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro2106Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro2136Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro396Ser Multiple submitters FLNB-Related Spectrum Disorders ⚠
- p.Pro420His Multiple submitters FLNB-related disorder ⚠
- p.Pro420Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro441Thr Multiple submitters ⚠
- p.Ser1096Phe Multiple submitters FLNB-Related Spectrum Disorders ⚠
- p.Ser1172Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser1255Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ser1433Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser188Cys Multiple submitters FLNB-Related Spectrum Disorders ⚠
- p.Ser1977Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser1997Leu Multiple submitters ⚠
- p.Ser2251Cys Multiple submitters Inborn genetic diseases ⚠
- p.Ser2481Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser2496Trp Multiple submitters Inborn genetic diseases ⚠
- p.Ser484Arg Multiple submitters Inborn genetic diseases ⚠
- p.Thr1003Met Multiple submitters connective tissue disorder ⚠
- p.Thr1203Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr1323Ser Multiple submitters ⚠
- p.Thr1343Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr140Met Multiple submitters ⚠
- p.Thr1480Pro Multiple submitters Inborn genetic diseases ⚠
- p.Thr1557Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr1579Ile Multiple submitters connective tissue disorder ⚠
- p.Thr216Ile Multiple submitters ⚠
- p.Thr2409Asn Multiple submitters ⚠
- p.Thr2420Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr2434Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr2443Ala Multiple submitters ⚠
- p.Thr2554Asn Multiple submitters ⚠
- p.Thr71Ser Multiple submitters FLNB-related disorder ⚠
- p.Thr806Lys Multiple submitters atelosteogenesis type III ⚠
- p.Thr872Ser Multiple submitters ⚠
- p.Thr907Met Multiple submitters Inborn genetic diseases ⚠
- p.Trp2587Ser Multiple submitters Inborn genetic diseases ⚠
- p.Trp2587Ter Multiple submitters
- p.Tyr1190Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr1530Cys Multiple submitters atelosteogenesis type I ⚠
- p.Tyr1676His Multiple submitters Inborn genetic diseases ⚠
- p.Tyr2171Ser Multiple submitters ⚠
- p.Tyr380His Multiple submitters Inborn genetic diseases ⚠
- p.Tyr63His Multiple submitters FLNB-Related Spectrum Disorders ⚠
- p.Tyr732Cys Multiple submitters spondylocarpotarsal synostosis syndrome ⚠
- p.Val1137Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val127Met Multiple submitters Inborn genetic diseases ⚠
- p.Val1351Met Multiple submitters ⚠
- p.Val1415Met Multiple submitters ⚠
- p.Val1435Leu Multiple submitters FLNB-related disorder ⚠
- p.Val1466Met Multiple submitters ⚠
- p.Val1511Gly Multiple submitters Inborn genetic diseases ⚠
- p.Val1693Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val1793Gly Multiple submitters Inborn genetic diseases ⚠
- p.Val1990Met Multiple submitters Inborn genetic diseases ⚠
- p.Val2169Phe Multiple submitters Inborn genetic diseases ⚠
- p.Val2185Met Multiple submitters Inborn genetic diseases ⚠
- p.Val2375Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val2564Ile Multiple submitters FLNB-Related Spectrum Disorders ⚠
- p.Val2574Ile Multiple submitters ⚠
- p.Val2575Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val357Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val391Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val428Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val767Met Multiple submitters ⚠
- p.Val787Met Multiple submitters Inborn genetic diseases ⚠
- p.Val795Met Multiple submitters Inborn genetic diseases ⚠
- p.Val839Gly Multiple submitters FLNB-Related Spectrum Disorders ⚠
- p.Val870Leu Multiple submitters ⚠
- p.Val996Gly Multiple submitters Inborn genetic diseases ⚠
- c.1147+5C>T Single submitter
- c.1147+6G>A Single submitter
- c.1147+6G>C Single submitter
- c.1346-2A>G Single submitter Larsen syndrome
- c.1483+3A>G Single submitter
- c.1484-6C>G Single submitter
- c.1748-6C>G Single submitter
- c.1941+5A>G Single submitter
- c.2055+4A>G Single submitter FLNB-Related Spectrum Disorders
- c.2199+6T>C Single submitter
- c.2323+3G>A Single submitter
- c.2324-3del Single submitter
- c.2484+2dup Single submitter
- c.2484+4C>T Single submitter
- c.2484+5G>A Single submitter
- c.2575+6A>G Single submitter
- c.2745+4G>A Single submitter
- c.2745+6G>A Single submitter
- c.2746-3C>G Single submitter
- c.2864-5T>A Single submitter FLNB-Related Spectrum Disorders
- c.293-3C>T Single submitter
- c.3126+3C>G Single submitter
- c.3724+3G>A Single submitter
- c.3724+5del Single submitter
- c.3898+3G>A Single submitter
- c.4061+5G>A Single submitter
- c.4061+6C>A Single submitter
- c.4222+3G>A Single submitter
- c.4223-13A>G Single submitter
- c.4514+3A>C Single submitter
- c.4514+41_4514+72del Single submitter
- c.4671+3A>G Single submitter
- c.4671+6T>G Single submitter
- c.4861+3_4861+18dup Single submitter
- c.4861+4A>G Single submitter
- c.5109+4A>T Single submitter
- c.5181+4C>A Single submitter
- c.5181+4C>G Single submitter
- c.5181+4C>T Single submitter
- c.5285-3T>C Single submitter
- c.541+3A>C Single submitter
- c.541+4A>G Single submitter
- c.542-16T>A Single submitter
- c.542-203G>A Single submitter
- c.542-3C>T Single submitter
- c.5888-15T>G Single submitter
- c.5888-3C>T Single submitter
- c.6244+2dup Single submitter
- c.6367+3G>A Single submitter
- c.6367+6C>T Single submitter
- c.6368-19A>G Single submitter
- c.6634+3G>A Single submitter
- c.6635-3C>T Single submitter
- c.6772+3A>G Single submitter
- c.6772+4T>C Single submitter
- c.6889-3C>T Single submitter
- c.6889-7T>G Single submitter
- c.7021+5G>C Single submitter
- c.7198+6C>T Single submitter
- c.7622-10T>C Single submitter
- c.788-3C>T Single submitter
- c.906+6T>C Single submitter
- c.-103A>G Single submitter FLNB-Related Spectrum Disorders
- c.-107T>G Single submitter FLNB-Related Spectrum Disorders
- c.-131G>C Single submitter FLNB-Related Spectrum Disorders
- c.-145G>T Single submitter FLNB-Related Spectrum Disorders
- c.-160C>G Single submitter FLNB-Related Spectrum Disorders
- c.-4C>G Single submitter
- c.-4C>T Single submitter FLNB-Related Spectrum Disorders
- c.-5C>T Single submitter
- c.-76C>A Single submitter FLNB-Related Spectrum Disorders
- c.-81G>C Single submitter FLNB-Related Spectrum Disorders
- c.-88C>A Single submitter FLNB-Related Spectrum Disorders
- c.*1003A>C Single submitter FLNB-Related Spectrum Disorders
- c.*1233T>C Single submitter FLNB-Related Spectrum Disorders
- c.*1257G>A Single submitter FLNB-Related Spectrum Disorders
- c.*1278A>G Single submitter FLNB-Related Spectrum Disorders
- c.*1295C>T Single submitter FLNB-Related Spectrum Disorders
- c.*1393G>A Single submitter FLNB-Related Spectrum Disorders
- c.*1427G>T Single submitter FLNB-Related Spectrum Disorders
- c.*1436G>A Single submitter FLNB-Related Spectrum Disorders
- c.*1491T>C Single submitter FLNB-Related Spectrum Disorders
- c.*255G>C Single submitter FLNB-Related Spectrum Disorders
- c.*262C>A Single submitter FLNB-Related Spectrum Disorders
- c.*367A>C Single submitter FLNB-Related Spectrum Disorders
- c.*395A>G Single submitter FLNB-Related Spectrum Disorders
- c.*449C>T Single submitter FLNB-Related Spectrum Disorders
- c.*471G>A Single submitter FLNB-Related Spectrum Disorders
- c.*507C>T Single submitter FLNB-Related Spectrum Disorders
- c.*514G>C Single submitter FLNB-Related Spectrum Disorders
- c.*582G>C Single submitter FLNB-Related Spectrum Disorders
- c.*60T>G Single submitter FLNB-Related Spectrum Disorders
- c.*653G>A Single submitter FLNB-Related Spectrum Disorders
- c.*698G>A Single submitter FLNB-Related Spectrum Disorders
- c.*69T>C Single submitter FLNB-Related Spectrum Disorders
- c.*719G>C Single submitter FLNB-Related Spectrum Disorders
- c.*805A>G Single submitter FLNB-Related Spectrum Disorders
- c.*926C>T Single submitter FLNB-Related Spectrum Disorders
- c.*990T>A Single submitter FLNB-Related Spectrum Disorders
- c.*990T>C Single submitter FLNB-Related Spectrum Disorders
- p.Ala1045Thr Single submitter ⚠
- p.Ala1068Ser Single submitter ⚠