Full data view for gene FLNC

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_001458.4 transcript reference sequence.

1046 entries on 11 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-7470628_*7075382del r.0? p.0? - Unknown - pathogenic g.121000064_135573959del - - - IMPDH1_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
-?/. - c.-87C>G r.(?) p.(=) - Unknown - likely benign g.128470605C>G g.128830551C>G FLNC(NM_001458.4):c.-87C>G - FLNC_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-57C>T r.(?) p.(=) - Unknown - likely benign g.128470635C>T g.128830581C>T - - FLNC_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-26_-9dup r.(?) p.(=) - Unknown - benign g.128470666_128470683dup g.128830612_128830629dup FLNC(NM_001458.4):c.-31_-14dupAGCCCCGGCCGCACCCCC - FLNC_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-12G>T r.(?) p.(=) - Unknown - benign g.128470680G>T g.128830626G>T FLNC(NM_001458.4):c.-12G>T - FLNC_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.19del r.(?) p.(Tyr7Thrfs*51) ABD, CH1 Unknown - likely pathogenic g.128470710del g.128830656del - - FLNC_000441 - PubMed: Ader 2019 - - Germline - - - 0 - DNA SEQ - - CM - PubMed: Ader 2019 - - - - - - 0 - - 1 Els Vanhoutte
-?/. - c.31G>A r.(?) p.(Gly11Ser) - Unknown - likely benign g.128470722G>A g.128830668G>A FLNC(NM_001458.4):c.31G>A (p.G11S) - FLNC_000325 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.61A>G r.(?) p.(Met21Val) - Unknown - VUS g.128470752A>G g.128830698A>G FLNC(NM_001458.4):c.61A>G (p.M21V) - FLNC_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.96G>A r.(?) p.(Ala32=) - Unknown - benign g.128470787G>A g.128830733G>A FLNC(NM_001458.4):c.96G>A (p.A32=) - FLNC_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.96G>A r.(?) p.(Ala32=) - Unknown - likely benign g.128470787G>A g.128830733G>A FLNC(NM_001458.4):c.96G>A (p.A32=) - FLNC_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 1 c.102G>A r.(?) p.(Trp34*) ABD, CH1 Unknown - likely pathogenic g.128470793G>A g.128830739G>A - - FLNC_000442 - PubMed: Bains 2019 - - Germline - - - 0 - DNA SEQ - - CM - PubMed: Bains 2019 - - - - - - 0 - - 1 Els Vanhoutte
+?/. 1 c.115C>T r.(?) p.(Gln39*) ABD, CH1 Unknown - likely pathogenic g.128470806C>T g.128830752C>T - - FLNC_000443 - PubMed: Janin 2017 - - Germline - - - 0 - DNA SEQ - - CM - PubMed: Janin 2017 - - - - - - 0 - - 1 Els Vanhoutte
?/. - c.140A>G r.(?) p.(Asn47Ser) - Unknown - VUS g.128470831A>G g.128830777A>G - - FLNC_000326 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.147C>T r.(?) p.(His49=) - Unknown - benign g.128470838C>T g.128830784C>T FLNC(NM_001458.4):c.147C>T (p.H49=) - FLNC_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.147C>T r.(?) p.(His49=) - Unknown - benign g.128470838C>T g.128830784C>T FLNC(NM_001458.4):c.147C>T (p.H49=) - FLNC_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.153G>A r.(?) p.(Lys51=) - Unknown - likely benign g.128470844G>A g.128830790G>A FLNC(NM_001458.4):c.153G>A (p.K51=) - FLNC_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.161G>A r.(?) p.(Gly54Asp) ABD, CH1 Parent #1 - VUS g.128470852G>A g.128830798G>A - - FLNC_000166 additional variants in DCTN1, NEB x2, TTN x2 PubMed: Fichna 2018 - - Germline - - - 0 - DNA SEQ-NG - WES LGMD 29970176-Pat200a PubMed: Fichna 2018 - F - Poland - - 0 - - 1 Johan den Dunnen
+?/. 1 c.230_234del r.(?) p.(Leu77Profs*73) ABD, CH1 Unknown - likely pathogenic g.128470921_128470925del g.128830867_128830871del 230_234delTCAGC - FLNC_000444 - PubMed: Janin 2017 - - Germline - - - 0 - DNA SEQ - - CM - PubMed: Janin 2017 - - - - - - 0 - - 1 Els Vanhoutte
-?/. - c.231C>T r.(?) p.(Leu77=) - Unknown - likely benign g.128470922C>T - FLNC(NM_001458.4):c.231C>T (p.L77=) - FLNC_000640 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.241C>T r.(?) p.(Arg81Cys) CH1, ABD Unknown - VUS g.128470932C>T g.128830878C>T - - FLNC_000446 - PubMed: Janssens 2015 - - Germline - - - 0 - DNA SEQ - - FTD - PubMed: Janssens 2015 - - - - - - 0 - - 1 Els Vanhoutte
+?/. 1 c.241del r.(?) p.(Arg81Alafs*15) ABD, CH1 Unknown - likely pathogenic g.128470932del g.128830878del 241delC - FLNC_000445 - PubMed: Ortiz-Genga 2016 - - Germline - - - 0 - DNA SEQ - - CM - PubMed: Ortiz-Genga 2016 - - - - - - 0 - - 1 Els Vanhoutte
?/. - c.248_265dup r.(?) p.(Pro88_Arg89insHisArgLysPheHisPro) - Unknown - VUS g.128470939_128470956dup g.128830885_128830902dup FLNC(NM_001458.4):c.248_265dupACCGCAAGTTCCATCCGC (p.P88_R89insHRKFHP) - FLNC_000327 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.248_265dup r.(?) p.(Pro88_Arg89insHisArgLysPheHisPro) ABD, CH1 Unknown - VUS g.128470939_128470956dup g.128830885_128830902dup - - FLNC_000327 - Verdonschot/Vanhoutte 2020, submitted - - Germline - - - 0 - DNA SEQ - - CM - Verdonschot/Vanhoutte 2020, submitted - - - - - - 0 - - 1 Els Vanhoutte
?/. - c.248_265dup r.(?) p.(Pro88_Arg89insHisArgLysPheHisPro) - Unknown - VUS g.128470939_128470956dup - FLNC(NM_001458.4):c.248_265dupACCGCAAGTTCCATCCGC (p.P88_R89insHRKFHP) - FLNC_000327 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.249C>G r.(?) p.(Tyr83*) ABD, CH1 Unknown - likely pathogenic g.128470940C>G g.128830886C>G - - FLNC_000447 - PubMed: Ortiz-Genga 2016 - - Germline - - - 0 - DNA SEQ - - CM - PubMed: Ortiz-Genga 2016 - - - - - - 0 - - 1 Els Vanhoutte
-?/. - c.294G>A r.(?) p.(Glu98=) - Unknown - likely benign g.128470985G>A g.128830931G>A FLNC(NM_001458.4):c.294G>A (p.E98=) - FLNC_000328 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.294G>A r.(?) p.(Glu98=) - Unknown - benign g.128470985G>A g.128830931G>A FLNC(NM_001458.4):c.294G>A (p.E98=) - FLNC_000328 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.318C>G r.(?) p.(Phe106Leu) ABD, CH1 Unknown - likely pathogenic g.128471009C>G g.128830955C>G - - FLNC_000329 - PubMed: Reinstein 2016 - - Germline - - - 0 - DNA SEQ - - CM - PubMed: Reinstein 2016 - - - - - - 0 - - 1 Els Vanhoutte
+?/. 1 c.322G>T r.(?) p.(Glu108*) ABD, CH1 Unknown - likely pathogenic g.128471013G>T g.128830959G>T - - FLNC_000448 - PubMed: Valdes-Mas2014 - - Germline - - - 0 - DNA SEQ - - CM - PubMed: Valdes-Mas2014 - - - - - - 0 - - 1 Els Vanhoutte
?/. - c.328G>A r.(?) p.(Glu110Lys) - Unknown - VUS g.128471019G>A g.128830965G>A - - FLNC_000330 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.328G>A r.(?) p.(Glu110Lys) ABD, CH1 Unknown - VUS g.128471019G>A g.128830965G>A - - FLNC_000330 - Verdonschot/Vanhoutte 2020, submitted - - Germline - - - 0 - DNA SEQ - - CM - Verdonschot/Vanhoutte 2020, submitted - - - - - - 0 - - 1 Els Vanhoutte
-?/. - c.352+8C>G r.(=) p.(=) - Unknown - likely benign g.128471051C>G g.128830997C>G - - FLNC_000331 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.352+10G>A r.(=) p.(=) - Unknown - benign g.128471053G>A g.128830999G>A FLNC(NM_001458.4):c.352+10G>A - FLNC_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.353-9C>T r.(=) p.(=) - Unknown - likely benign g.128475371C>T - FLNC(NM_001458.4):c.353-9C>T - FLNC_000621 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.366C>T r.(?) p.(Ile122=) - Unknown - benign g.128475393C>T g.128835339C>T FLNC(NM_001458.4):c.366C>T (p.I122=) - FLNC_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.367G>A r.(?) p.(Val123Met) - Unknown - likely pathogenic g.128475394G>A g.128835340G>A - - FLNC_000332 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.367G>A r.(?) p.(Val123Met) ABD, CH1 Unknown - likely pathogenic g.128475394G>A g.128835340G>A - - FLNC_000332 - Verdonschot/Vanhoutte 2020, submitted - - Germline - - - 0 - DNA SEQ - - CM - Verdonschot/Vanhoutte 2020, submitted - - - - - - 0 - - 1 Els Vanhoutte
+?/. 2 c.368T>C r.(?) p.(Val123Ala) ABD, CH1 Unknown - likely pathogenic g.128475395T>C g.128835341T>C - - FLNC_000449 - PubMed: Valdes-Mas2014 - - Germline - - - 0 - DNA SEQ - - CM - PubMed: Valdes-Mas2014 - - - - - - 0 - - 1 Els Vanhoutte
-/. - c.369G>C r.(?) p.(Val123=) - Unknown - benign g.128475396G>C g.128835342G>C FLNC(NM_001458.4):c.369G>C (p.V123=) - FLNC_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.404G>A r.(?) p.(Trp135Ter) - Unknown - pathogenic g.128475431G>A g.128835377G>A FLNC(NM_001458.4):c.404G>A (p.W135*) - FLNC_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.404G>A r.(?) p.(Trp135*) ABD, CH1 Unknown - likely pathogenic g.128475431G>A g.128835377G>A - - FLNC_000180 - LOVD - - Germline - - - 0 - DNA SEQ - - CM - LOVD - - - - - - 0 - - 1 Els Vanhoutte
?/. - c.420C>A r.(?) p.(His140Gln) - Unknown - VUS g.128475447C>A g.128835393C>A - - FLNC_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.439A>G r.(?) p.(Met147Val) - Unknown - VUS g.128475466A>G g.128835412A>G FLNC(NM_001458.4):c.439A>G (p.M147V) - FLNC_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.449A>G r.(?) p.Asp150Gly - Unknown ACMG VUS g.128475476A>G g.128835422A>G - - FLNC_000171 - - - rs760711912 Germline - - - 0 - DNA SEQ-NG - - - - - - M - Germany - - 0 - - 1 Andreas Laner
?/. - c.449A>G r.(?) p.(Asp150Gly) - Unknown - VUS g.128475476A>G g.128835422A>G FLNC(NM_001458.4):c.449A>G (p.D150G) - FLNC_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.449A>G r.(?) p.(Asp150Gly) - Unknown - likely benign g.128475476A>G g.128835422A>G FLNC(NM_001458.4):c.449A>G (p.D150G) - FLNC_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.449A>G r.(?) p.(Asp150Gly) ABD, CH1 Unknown - VUS g.128475476A>G g.128835422A>G - - FLNC_000171 - Verdonschot/Vanhoutte 2020, submitted - - Germline - - - 0 - DNA SEQ - - CM - Verdonschot/Vanhoutte 2020, submitted - - - - - - 0 - - 1 Els Vanhoutte
?/. - c.449A>G r.(?) p.(Asp150Gly) - Unknown - VUS g.128475476A>G - FLNC(NM_001458.4):c.449A>G (p.D150G) - FLNC_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.519G>A r.(?) p.(Val173=) - Unknown - VUS g.128475546G>A - FLNC(NM_001458.4):c.519G>A (p.V173=) - FLNC_000641 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.554G>A r.(?) p.(Trp185Ter) - Unknown - pathogenic g.128475581G>A - FLNC(NM_001458.4):c.554G>A (p.W185*) - FLNC_000594 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.558G>A r.(?) p.(Gln186=) - Unknown - benign g.128475585G>A g.128835531G>A FLNC(NM_001458.4):c.558G>A (p.Q186=) - FLNC_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.558G>A r.(?) p.(Gln186=) - Unknown - likely benign g.128475585G>A g.128835531G>A FLNC(NM_001458.4):c.558G>A (p.Q186=) - FLNC_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.558G>A r.(?) p.(Gln186=) - Unknown - likely benign g.128475585G>A g.128835531G>A FLNC(NM_001458.4):c.558G>A (p.Q186=) - FLNC_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.561C>T r.(?) p.(Asp187=) - Unknown - benign g.128475588C>T g.128835534C>T FLNC(NM_001458.4):c.561C>T (p.D187=) - FLNC_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.561C>T r.(?) p.(Asp187=) - Unknown - benign g.128475588C>T g.128835534C>T FLNC(NM_001458.4):c.561C>T (p.D187=) - FLNC_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.561C>T r.(?) p.(Asp187=) - Unknown - benign g.128475588C>T g.128835534C>T FLNC(NM_001458.4):c.561C>T (p.D187=) - FLNC_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.561C>T r.(?) p.(Asp187=) - Unknown - likely benign g.128475588C>T g.128835534C>T FLNC(NM_001458.4):c.561C>T (p.D187=) - FLNC_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.577G>A r.(?) p.(Ala193Thr) - Unknown - likely pathogenic g.128475604G>A g.128835550G>A FLNC(NM_001458.4):c.577G>A (p.A193T) - FLNC_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 2 c.577G>A r.(?) p.(Ala193Thr) ABD, CH2 Unknown - likely pathogenic g.128475604G>A g.128835550G>A - - FLNC_000146 - PubMed: Duff 2011 - - Germline - - - 0 - DNA SEQ - - MYOP - PubMed: Duff 2011 - - - - - - 0 - - 1 Els Vanhoutte
+?/. - c.577G>A r.(?) p.(Ala193Thr) - Unknown ACMG likely pathogenic g.128475604G>A g.128835550G>A - - FLNC_000146 ACMG: PS3,PM2,PP3; Duff et al. 2011. Am J Hum Genet 88: 729; van den Bogaart et al. 2017. Neuromuscul Disord 27: 73 - - rs387906587 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - - - - 0 - - 1 Andreas Laner
+?/. - c.577G>A r.(?) p.(Ala193Thr) - Unknown - likely pathogenic g.128475604G>A g.128835550G>A - - FLNC_000146 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 1 Johan den Dunnen
+?/. - c.577G>A r.(?) p.(Ala193Thr) - Unknown - likely pathogenic g.128475604G>A - FLNC(NM_001458.4):c.577G>A (p.A193T) - FLNC_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.581_599del r.(?) p.(Leu194Profs*52) ABD, CH2 Unknown - likely pathogenic g.128475608_128475626del g.128835554_128835572del 581_599del19 - FLNC_000450 - PubMed: Ortiz-Genga 2016 - - Germline - - - 0 - DNA SEQ - - CM - PubMed: Ortiz-Genga 2016 - - - - - - 0 - - 1 Els Vanhoutte
-?/. - c.597C>T r.(?) p.(Ala199=) - Unknown - likely benign g.128475624C>T g.128835570C>T FLNC(NM_001458.4):c.597C>T (p.A199=) - FLNC_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.597C>T r.(?) p.(Ala199=) - Unknown - likely benign g.128475624C>T g.128835570C>T FLNC(NM_001458.4):c.597C>T (p.A199=) - FLNC_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.597C>T r.(?) p.(Ala199=) - Unknown - likely benign g.128475624C>T g.128835570C>T FLNC(NM_001458.4):c.597C>T (p.A199=) - FLNC_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.597C>T r.(?) p.(Ala199=) - Unknown - benign g.128475624C>T - FLNC(NM_001458.4):c.597C>T (p.A199=) - FLNC_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.600C>T r.(?) p.(Pro200=) - Unknown - likely benign g.128475627C>T g.128835573C>T FLNC(NM_001458.4):c.600C>T (p.P200=) - FLNC_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.600C>T r.(?) p.(Pro200=) - Unknown - benign g.128475627C>T g.128835573C>T FLNC(NM_001458.4):c.600C>T (p.P200=) - FLNC_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.600C>T r.(?) p.(Pro200=) - Unknown - likely benign g.128475627C>T g.128835573C>T FLNC(NM_001458.4):c.600C>T (p.P200=) - FLNC_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.600C>T r.(?) p.(Pro200=) - Unknown - likely benign g.128475627C>T g.128835573C>T FLNC(NM_001458.4):c.600C>T (p.P200=) - FLNC_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.601+1G>T r.spl p.? ABD, CH2 Unknown - likely pathogenic g.128475629G>T g.128835575G>T - - FLNC_000451 - PubMed: Janin 2017 - - Germline - - - 0 - DNA SEQ - - CM - PubMed: Janin 2017 - - - - - - 0 - - 1 Els Vanhoutte
+?/. 3 c.602-716_1010delins353-1376_353-1339 r.spl p.Gly201Valfs*36 ABD, CH2 Unknown - likely pathogenic g.128476498_128478081delins128474004_128474041 g.128836444_128838027delins128833950_128833987 602-716_1010delinsTGCCCCGGGAGGGGTGCCTCAGTCTCCCTGTCCCTCTG - FLNC_000452 - PubMed: Ortiz-Genga 2016 - - Germline - - - 0 - DNA SEQ - - CM - PubMed: Ortiz-Genga 2016 - - - - - - 0 - - 1 Els Vanhoutte
-?/. - c.602-34C>T r.(=) p.(=) - Unknown - likely benign g.128477180C>T g.128837126C>T - - FLNC_000333 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.602-16T>A r.(=) p.(=) - Unknown - benign g.128477198T>A g.128837144T>A FLNC(NM_001458.4):c.602-16T>A - FLNC_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.602-16T>A r.(=) p.(=) - Unknown - likely benign g.128477198T>A g.128837144T>A FLNC(NM_001458.4):c.602-16T>A - FLNC_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.602-16T>A r.(=) p.(=) - Unknown - likely benign g.128477198T>A - FLNC(NM_001458.4):c.602-16T>A - FLNC_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.602-11C>T r.(=) p.(=) - Unknown - benign g.128477203C>T g.128837149C>T FLNC(NM_001458.4):c.602-11C>T - FLNC_000334 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.602-11C>T r.(=) p.(=) - Unknown - benign g.128477203C>T g.128837149C>T FLNC(NM_001458.4):c.602-11C>T - FLNC_000334 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.642C>T r.(?) p.(Pro214=) - Unknown - benign g.128477254C>T - FLNC(NM_001458.4):c.642C>T (p.P214=) - FLNC_000642 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.643G>A r.(?) p.(Val215Met) - Unknown - likely pathogenic g.128477255G>A g.128837201G>A - - FLNC_000631 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 1 Johan den Dunnen
+?/. 3 c.664A>G r.(?) p.(Met222Val) ABD, CH2 Unknown - likely pathogenic g.128477276A>G g.128837222A>G - - FLNC_000453 - PubMed: Gemelli 2019 - - Germline - - - 0 - DNA SEQ - - MYOP - PubMed: Gemelli 2019 - - - - - - 0 - - 1 Els Vanhoutte
+/. - c.697C>T r.(?) p.(Gln233Ter) - Unknown - pathogenic g.128477309C>T g.128837255C>T FLNC(NM_001458.4):c.697C>T (p.Q233*) - FLNC_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 3 c.697C>T r.(?) p.(Gln233*) ABD, CH2 Unknown - likely pathogenic g.128477309C>T g.128837255C>T - - FLNC_000016 - Verdonschot/Vanhoutte 2020, submitted - - Germline - - - 0 - DNA SEQ - - CM - Verdonschot/Vanhoutte 2020, submitted - - - - - - 0 - - 1 Els Vanhoutte
-?/. - c.699+34G>A r.(=) p.(=) - Unknown - likely benign g.128477345G>A - - - FLNC_000595 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.700-31C>T r.(=) p.(=) - Unknown - likely benign g.128477421C>T g.128837367C>T - - FLNC_000335 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.700-30G>A r.(=) p.(=) - Unknown - likely benign g.128477422G>A g.128837368G>A - - FLNC_000336 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.700-12T>C r.(=) p.(=) - Unknown - benign g.128477440T>C g.128837386T>C FLNC(NM_001458.4):c.700-12T>C - FLNC_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.700-5C>T r.spl? p.? - Unknown - likely benign g.128477447C>T g.128837393C>T FLNC(NM_001458.4):c.700-5C>T - FLNC_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.700-2A>G r.spl? p.? - Unknown - likely pathogenic g.128477450A>G - FLNC(NM_001458.4):c.700-2A>G - FLNC_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.711del r.(?) p.(Glu238Argfs*14) ABD, CH2 Unknown - likely pathogenic g.128477463del g.128837409del - - FLNC_000454 - PubMed: Ader 2019 - - Germline - - - 0 - DNA SEQ - - CM - PubMed: Ader 2019 - - - - - - 0 - - 1 Els Vanhoutte
+?/. - c.719T>C r.(?) p.(Ile240Thr) - Unknown - likely pathogenic g.128477471T>C g.128837417T>C - - FLNC_000632 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 1 Johan den Dunnen
-/. - c.720T>C r.(?) p.(Ile240=) - Unknown - benign g.128477472T>C g.128837418T>C FLNC(NM_001458.4):c.720T>C (p.I240=) - FLNC_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.720T>C r.(?) p.(Ile240=) - Unknown - benign g.128477472T>C g.128837418T>C FLNC(NM_001458.4):c.720T>C (p.I240=) - FLNC_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.743A>T r.(?) p.(His248Leu) - Unknown - VUS g.128477495A>T g.128837441A>T FLNC(NM_001458.4):c.743A>T (p.H248L) - FLNC_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.743A>T r.(?) p.(His248Leu) ABD, CH2 Unknown - VUS g.128477495A>T g.128837441A>T - - FLNC_000188 - Verdonschot/Vanhoutte 2020, submitted - - Germline - - - 0 - DNA SEQ - - CM - Verdonschot/Vanhoutte 2020, submitted - - - - - - 0 - - 1 Els Vanhoutte
+?/. 4 c.752T>C r.(?) p.(Met251Thr) ABD, CH2 Unknown - likely pathogenic g.128477504T>C g.128837450T>C - - FLNC_000455 - PubMed: Duff 2011 - - Germline - - - 0 - DNA SEQ - - MYOP - PubMed: Duff 2011 - - - - - - 0 - - 1 Els Vanhoutte
+?/. - c.754A>C r.(?) p.(Thr252Pro) - Unknown - likely pathogenic g.128477506A>C g.128837452A>C - - FLNC_000633 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 1 Johan den Dunnen
-/. - c.795T>C r.(?) p.(Gly265=) - Unknown - benign g.128477547T>C g.128837493T>C FLNC(NM_001458.4):c.795T>C (p.G265=) - FLNC_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.795T>C r.(?) p.(Gly265=) - Unknown - benign g.128477547T>C g.128837493T>C FLNC(NM_001458.4):c.795T>C (p.G265=) - FLNC_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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