Unique variants in the FLNC gene

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.

667 entries on 7 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
./. 1 - c.-7470628_*7075382del r.0? p.0? - - pathogenic g.121000064_135573959del - - - IMPDH1_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
-?/. 1 - c.-87C>G r.(?) p.(=) - - likely benign g.128470605C>G g.128830551C>G FLNC(NM_001458.4):c.-87C>G - FLNC_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.-57C>T r.(?) p.(=) - - likely benign g.128470635C>T g.128830581C>T - - FLNC_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.-26_-9dup r.(?) p.(=) - - benign g.128470666_128470683dup g.128830612_128830629dup FLNC(NM_001458.4):c.-31_-14dupAGCCCCGGCCGCACCCCC - FLNC_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.-12G>T r.(?) p.(=) - - benign g.128470680G>T g.128830626G>T FLNC(NM_001458.4):c.-12G>T - FLNC_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 1 c.19del r.(?) p.(Tyr7Thrfs*51) ABD, CH1 - likely pathogenic g.128470710del g.128830656del - - FLNC_000441 - PubMed: Ader 2019 - - Germline - - - - - Els Vanhoutte
-?/. 1 - c.31G>A r.(?) p.(Gly11Ser) - - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.61A>G r.(?) p.(Met21Val) - - 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 - - - - - VKGL-NL_AMC
-/., -?/. 2 - c.96G>A r.(?) p.(Ala32=) - - benign, 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 - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
+?/. 1 1 c.102G>A r.(?) p.(Trp34*) ABD, CH1 - likely pathogenic g.128470793G>A g.128830739G>A - - FLNC_000442 - PubMed: Bains 2019 - - Germline - - - - - Els Vanhoutte
+?/. 1 1 c.115C>T r.(?) p.(Gln39*) ABD, CH1 - likely pathogenic g.128470806C>T g.128830752C>T - - FLNC_000443 - PubMed: Janin 2017 - - Germline - - - - - Els Vanhoutte
?/. 1 - c.140A>G r.(?) p.(Asn47Ser) - - VUS g.128470831A>G g.128830777A>G - - FLNC_000326 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.147C>T r.(?) p.(His49=) - - 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 - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.153G>A r.(?) p.(Lys51=) - - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.161G>A r.(?) p.(Gly54Asp) ABD, CH1 - VUS g.128470852G>A g.128830798G>A - - FLNC_000166 additional variants in DCTN1, NEB x2, TTN x2 PubMed: Fichna 2018 - - Germline - - - - - Johan den Dunnen
+?/. 1 1 c.230_234del r.(?) p.(Leu77Profs*73) ABD, CH1 - likely pathogenic g.128470921_128470925del g.128830867_128830871del 230_234delTCAGC - FLNC_000444 - PubMed: Janin 2017 - - Germline - - - - - Els Vanhoutte
-?/. 1 - c.231C>T r.(?) p.(Leu77=) - - likely benign g.128470922C>T - FLNC(NM_001458.4):c.231C>T (p.L77=) - FLNC_000640 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 1 c.241C>T r.(?) p.(Arg81Cys) CH1, ABD - VUS g.128470932C>T g.128830878C>T - - FLNC_000446 - PubMed: Janssens 2015 - - Germline - - - - - Els Vanhoutte
+?/. 1 1 c.241del r.(?) p.(Arg81Alafs*15) ABD, CH1 - likely pathogenic g.128470932del g.128830878del 241delC - FLNC_000445 - PubMed: Ortiz-Genga 2016 - - Germline - - - - - Els Vanhoutte
?/. 3 1 c.248_265dup r.(?) p.(Pro88_Arg89insHisArgLysPheHisPro) ABD, CH1 - VUS g.128470939_128470956dup g.128830885_128830902dup FLNC(NM_001458.4):c.248_265dupACCGCAAGTTCCATCCGC (p.P88_R89insHRKFHP) - FLNC_000327 VKGL data sharing initiative Nederland Verdonschot/Vanhoutte 2020, submitted - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen, Els Vanhoutte
+?/. 1 1 c.249C>G r.(?) p.(Tyr83*) ABD, CH1 - likely pathogenic g.128470940C>G g.128830886C>G - - FLNC_000447 - PubMed: Ortiz-Genga 2016 - - Germline - - - - - Els Vanhoutte
-/., -?/. 2 - c.294G>A r.(?) p.(Glu98=) - - benign, 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 - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/. 1 1 c.318C>G r.(?) p.(Phe106Leu) ABD, CH1 - likely pathogenic g.128471009C>G g.128830955C>G - - FLNC_000329 - PubMed: Reinstein 2016 - - Germline - - - - - Els Vanhoutte
+?/. 1 1 c.322G>T r.(?) p.(Glu108*) ABD, CH1 - likely pathogenic g.128471013G>T g.128830959G>T - - FLNC_000448 - PubMed: Valdes-Mas2014 - - Germline - - - - - Els Vanhoutte
?/. 2 1 c.328G>A r.(?) p.(Glu110Lys) ABD, CH1 - VUS g.128471019G>A g.128830965G>A - - FLNC_000330 VKGL data sharing initiative Nederland Verdonschot/Vanhoutte 2020, submitted - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Els Vanhoutte
-?/. 1 - c.352+8C>G r.(=) p.(=) - - likely benign g.128471051C>G g.128830997C>G - - FLNC_000331 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.352+10G>A r.(=) p.(=) - - benign g.128471053G>A g.128830999G>A FLNC(NM_001458.4):c.352+10G>A - FLNC_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.353-9C>T r.(=) p.(=) - - likely benign g.128475371C>T - FLNC(NM_001458.4):c.353-9C>T - FLNC_000621 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.366C>T r.(?) p.(Ile122=) - - 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 - - - - - VKGL-NL_AMC
+?/. 2 2 c.367G>A r.(?) p.(Val123Met) ABD, CH1 - likely pathogenic g.128475394G>A g.128835340G>A - - FLNC_000332 VKGL data sharing initiative Nederland Verdonschot/Vanhoutte 2020, submitted - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Els Vanhoutte
+?/. 1 2 c.368T>C r.(?) p.(Val123Ala) ABD, CH1 - likely pathogenic g.128475395T>C g.128835341T>C - - FLNC_000449 - PubMed: Valdes-Mas2014 - - Germline - - - - - Els Vanhoutte
-/. 1 - c.369G>C r.(?) p.(Val123=) - - 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 - - - - - VKGL-NL_AMC
+/., +?/. 2 2 c.404G>A r.(?) p.(Trp135*), p.(Trp135Ter) ABD, CH1 - likely pathogenic, pathogenic g.128475431G>A g.128835377G>A FLNC(NM_001458.4):c.404G>A (p.W135*) - FLNC_000180 VKGL data sharing initiative Nederland LOVD - - CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, Els Vanhoutte
?/. 1 - c.420C>A r.(?) p.(His140Gln) - - VUS g.128475447C>A g.128835393C>A - - FLNC_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.439A>G r.(?) p.(Met147Val) - - 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 - - - - - VKGL-NL_Rotterdam
-?/., ?/. 5 2 c.449A>G r.(?) p.(Asp150Gly), p.Asp150Gly ABD, CH1 ACMG likely benign, VUS g.128475476A>G g.128835422A>G FLNC(NM_001458.4):c.449A>G (p.D150G) - FLNC_000171 VKGL data sharing initiative Nederland Verdonschot/Vanhoutte 2020, submitted - rs760711912 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC, Els Vanhoutte
?/. 1 - c.519G>A r.(?) p.(Val173=) - - VUS g.128475546G>A - FLNC(NM_001458.4):c.519G>A (p.V173=) - FLNC_000641 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.554G>A r.(?) p.(Trp185Ter) - - pathogenic g.128475581G>A - FLNC(NM_001458.4):c.554G>A (p.W185*) - FLNC_000594 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 3 - c.558G>A r.(?) p.(Gln186=) - - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/., -?/. 4 - c.561C>T r.(?) p.(Asp187=) - - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/. 5 2 c.577G>A r.(?) p.(Ala193Thr) ABD, CH2 ACMG likely pathogenic g.128475604G>A g.128835550G>A FLNC(NM_001458.4):c.577G>A (p.A193T) - FLNC_000146 combination of variants not reported, VKGL data sharing initiative Nederland, 1 more item PubMed: Duff 2011, PubMed: Topf 2020 - rs387906587 CLASSIFICATION record, Germline - 1/1001 cases - - - Johan den Dunnen, Andreas Laner, VKGL-NL_Nijmegen, VKGL-NL_VUmc, Els Vanhoutte
+?/. 1 2 c.581_599del r.(?) p.(Leu194Profs*52) ABD, CH2 - likely pathogenic g.128475608_128475626del g.128835554_128835572del 581_599del19 - FLNC_000450 - PubMed: Ortiz-Genga 2016 - - Germline - - - - - Els Vanhoutte
-/., -?/. 4 - c.597C>T r.(?) p.(Ala199=) - - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/., -?/. 4 - c.600C>T r.(?) p.(Pro200=) - - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/. 1 2 c.601+1G>T r.spl p.? ABD, CH2 - likely pathogenic g.128475629G>T g.128835575G>T - - FLNC_000451 - PubMed: Janin 2017 - - Germline - - - - - Els Vanhoutte
+?/. 1 3 c.602-716_1010delins353-1376_353-1339 r.spl p.Gly201Valfs*36 ABD, CH2 - likely pathogenic g.128476498_128478081delins128474004_128474041 g.128836444_128838027delins128833950_128833987 602-716_1010delinsTGCCCCGGGAGGGGTGCCTCAGTCTCCCTGTCCCTCTG - FLNC_000452 - PubMed: Ortiz-Genga 2016 - - Germline - - - - - Els Vanhoutte
-?/. 1 - c.602-34C>T r.(=) p.(=) - - likely benign g.128477180C>T g.128837126C>T - - FLNC_000333 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 3 - c.602-16T>A r.(=) p.(=) - - benign, 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 - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/. 2 - c.602-11C>T r.(=) p.(=) - - benign g.128477203C>T g.128837149C>T FLNC(NM_001458.4):c.602-11C>T - FLNC_000334 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
-/. 1 - c.642C>T r.(?) p.(Pro214=) - - benign g.128477254C>T - FLNC(NM_001458.4):c.642C>T (p.P214=) - FLNC_000642 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.643G>A r.(?) p.(Val215Met) - - likely pathogenic g.128477255G>A g.128837201G>A - - FLNC_000631 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - Johan den Dunnen
+?/. 1 3 c.664A>G r.(?) p.(Met222Val) ABD, CH2 - likely pathogenic g.128477276A>G g.128837222A>G - - FLNC_000453 - PubMed: Gemelli 2019 - - Germline - - - - - Els Vanhoutte
+/., +?/. 2 3 c.697C>T r.(?) p.(Gln233*), p.(Gln233Ter) ABD, CH2 - likely pathogenic, pathogenic g.128477309C>T g.128837255C>T FLNC(NM_001458.4):c.697C>T (p.Q233*) - FLNC_000016 VKGL data sharing initiative Nederland Verdonschot/Vanhoutte 2020, submitted - - CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, Els Vanhoutte
-?/. 1 - c.699+34G>A r.(=) p.(=) - - likely benign g.128477345G>A - - - FLNC_000595 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.700-31C>T r.(=) p.(=) - - likely benign g.128477421C>T g.128837367C>T - - FLNC_000335 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.700-30G>A r.(=) p.(=) - - likely benign g.128477422G>A g.128837368G>A - - FLNC_000336 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.700-12T>C r.(=) p.(=) - - benign g.128477440T>C g.128837386T>C FLNC(NM_001458.4):c.700-12T>C - FLNC_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.700-5C>T r.spl? p.? - - 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 - - - - - VKGL-NL_Utrecht
+?/. 1 - c.700-2A>G r.spl? p.? - - likely pathogenic g.128477450A>G - FLNC(NM_001458.4):c.700-2A>G - FLNC_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 1 4 c.711del r.(?) p.(Glu238Argfs*14) ABD, CH2 - likely pathogenic g.128477463del g.128837409del - - FLNC_000454 - PubMed: Ader 2019 - - Germline - - - - - Els Vanhoutte
+?/. 1 - c.719T>C r.(?) p.(Ile240Thr) - - likely pathogenic g.128477471T>C g.128837417T>C - - FLNC_000632 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - Johan den Dunnen
-/. 2 - c.720T>C r.(?) p.(Ile240=) - - 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 - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 2 4 c.743A>T r.(?) p.(His248Leu) ABD, CH2 - VUS g.128477495A>T g.128837441A>T FLNC(NM_001458.4):c.743A>T (p.H248L) - FLNC_000188 VKGL data sharing initiative Nederland Verdonschot/Vanhoutte 2020, submitted - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Utrecht, Els Vanhoutte
+?/. 1 4 c.752T>C r.(?) p.(Met251Thr) ABD, CH2 - likely pathogenic g.128477504T>C g.128837450T>C - - FLNC_000455 - PubMed: Duff 2011 - - Germline - - - - - Els Vanhoutte
+?/. 1 - c.754A>C r.(?) p.(Thr252Pro) - - likely pathogenic g.128477506A>C g.128837452A>C - - FLNC_000633 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - Johan den Dunnen
-/. 2 - c.795T>C r.(?) p.(Gly265=) - - 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 - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
+/., +?/. 2 4 c.805C>T r.(?) p.(Arg269*) ROD1, Ig-like 1 - likely pathogenic, pathogenic g.128477557C>T g.128837503C>T FLNC(NM_001458.4):c.805C>T (p.R269*) - FLNC_000456 VKGL data sharing initiative Nederland PubMed: Begay 2018 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Els Vanhoutte
-?/., ?/. 2 4 c.850+4T>G r.spl? p.? ROD1, Ig-like 1 - likely benign, VUS g.128477606T>G g.128837552T>G - - FLNC_000337 VKGL data sharing initiative Nederland PubMed: Cui 2018 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Els Vanhoutte
-/. 2 - c.850+18G>A r.(=) p.(=) - - benign g.128477620G>A g.128837566G>A FLNC(NM_001458.4):c.850+18G>A - FLNC_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
-/. 1 - c.851-7C>A r.(=) p.(=) - - benign g.128477684C>A g.128837630C>A FLNC(NM_001458.4):c.851-7C>A - FLNC_000579 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.853A>G r.(?) p.(Ile285Val) - - likely benign g.128477693A>G g.128837639A>G FLNC(NM_001458.4):c.853A>G (p.I285V) - FLNC_000580 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.856G>A r.(?) p.(Glu286Lys) - - VUS g.128477696G>A g.128837642G>A FLNC(NM_001458.4):c.856G>A (p.E286K) - FLNC_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 5 c.870C>A r.(?) p.(Asn290Lys) ROD1, Ig-like 1 - VUS g.128477710C>A g.128837656C>A - - FLNC_000457 - PubMed: Valdes-Mas2014 - - Germline - - - - - Els Vanhoutte
-?/. 1 - c.872C>T r.(?) p.(Thr291Ile) - - likely benign g.128477712C>T g.128837658C>T - - FLNC_000338 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.898G>A r.(?) p.(Val300Met) - - VUS g.128477738G>A - FLNC(NM_001458.4):c.898G>A (p.V300M) - FLNC_000643 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.905C>T r.(?) p.(Thr302Met) - - VUS g.128477745C>T - FLNC(NM_001458.4):c.905C>T (p.T302M) - FLNC_000644 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 5 c.925G>A r.(?) p.(Glu309Lys) ROD1, Ig-like 1 - VUS g.128477765G>A g.128837711G>A - - FLNC_000339 VKGL data sharing initiative Nederland PubMed: Weihl 2015 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Els Vanhoutte
?/. 1 5 c.968A>T r.(?) p.(Glu323Val) Ig-like 1, ROD1 - VUS g.128477808A>T g.128837754A>T - - FLNC_000458 - PubMed: Janssens 2015 - - Germline - - - - - Els Vanhoutte
?/. 1 5 c.969+3A>G r.spl? p.? ROD1, Ig-like 1 - VUS g.128477812A>G g.128837758A>G - - FLNC_000459 - PubMed: Dai 2015 - - Germline - - - - - Els Vanhoutte
-/., -?/. 2 - c.969+14G>T r.(=) p.(=) - - benign, likely benign g.128477823G>T g.128837769G>T FLNC(NM_001458.4):c.969+14G>T - FLNC_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.970-5A>G r.spl? p.? - - likely benign g.128478036A>G - FLNC(NM_001458.4):c.970-5A>G - FLNC_000645 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/., ?/. 3 6 c.970-4A>G r.spl? p.? ROD1, Ig-like 1 - pathogenic, VUS g.128478037A>G g.128837983A>G FLNC(NM_001458.4):c.970-4A>G - FLNC_000190 VKGL data sharing initiative Nederland Verdonschot/Vanhoutte 2020, submitted - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC, Els Vanhoutte
?/. 2 - c.977T>C r.(?) p.(Val326Ala) - - VUS g.128478048T>C g.128837994T>C FLNC(NM_001127487.1):c.977T>C (p.(Val326Ala)), FLNC(NM_001458.4):c.977T>C (p.V326A) - FLNC_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
?/. 1 6 c.986A>G r.(?) p.(Asn329Ser) ROD1, Ig-like 1 - VUS g.128478057A>G g.128838003A>G - - FLNC_000460 - PubMed: Alejandra Restrepo-Cordoba 2017 - - Germline - - - - - Els Vanhoutte
?/. 1 - c.1000C>A r.(?) p.(Arg334Ser) - - VUS g.128478071C>A - FLNC(NM_001458.4):c.1000C>A (p.R334S) - FLNC_000646 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1019A>G r.(?) p.(Tyr340Cys) - - VUS g.128478090A>G g.128838036A>G - - FLNC_000581 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.1032C>T r.(?) p.(Val344=) - - benign g.128478103C>T g.128838049C>T FLNC(NM_001458.4):c.1032C>T (p.V344=) - FLNC_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 7 c.1076T>C r.(?) p.(Ile359Thr) ROD1, Ig-like 1 - VUS g.128478349T>C g.128838295T>C - - FLNC_000461 - PubMed: Cui 2018 - - Germline - - - - - Els Vanhoutte
-?/., ?/. 3 - c.1081C>T r.(?) p.(Arg361Cys) - - likely benign, VUS g.128478354C>T g.128838300C>T FLNC(NM_001458.4):c.1081C>T (p.R361C) - FLNC_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
?/. 1 - c.1094A>G r.(?) p.(Glu365Gly) - - VUS g.128478367A>G g.128838313A>G FLNC(NM_001458.4):c.1094A>G (p.E365G) - FLNC_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1098G>C r.(?) p.(Val366=) - - likely benign g.128478371G>C g.128838317G>C - - FLNC_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 2 - c.1108A>G r.(?) p.(Met370Val) - - likely benign g.128478381A>G g.128838327A>G FLNC(NM_001458.4):c.1108A>G (p.M370V) - FLNC_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.1131G>C r.(?) p.Lys377Asn - ACMG VUS g.128478404G>C g.128838350G>C - - FLNC_000169 - - - - Germline - - - - - Andreas Laner
?/. 1 - c.1132G>A r.(?) p.(Val378Met) - - VUS g.128478405G>A g.128838351G>A FLNC(NM_001458.4):c.1132G>A (p.V378M) - FLNC_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 7 c.1132G>T r.(?) p.(Val378Leu) ROD1, Ig-like 2 - VUS g.128478405G>T g.128838351G>T - - FLNC_000462 - PubMed: Cui 2018 - - Germline - - - - - Els Vanhoutte
?/. 1 7 c.1141C>T r.(?) p.(Arg381Cys) Ig-like 2, ROD1 - VUS g.128478414C>T g.128838360C>T - - FLNC_000463 - PubMed: Aloraifi 2015 - - Germline - - - - - Els Vanhoutte
?/. 1 - c.1142G>A r.(?) p.(Arg381His) - - VUS g.128478415G>A g.128838361G>A FLNC(NM_001458.4):c.1142G>A (p.R381H) - FLNC_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.1166G>A r.(?) p.(Gly389Asp) - - VUS g.128478439G>A - FLNC(NM_001458.4):c.1166G>A (p.G389D) - FLNC_000596 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
?/. 1 7 c.1171G>T r.(?) p.(Val391Leu) Ig-like 2, ROD1 - VUS g.128478444G>T g.128838390G>T - - FLNC_000464 - PubMed: Takata 2018 - - Germline - - - - - Els Vanhoutte
?/. 1 - c.1196A>T r.(?) p.(Asp399Val) - - VUS g.128478469A>T g.128838415A>T FLNC(NM_001458.4):c.1196A>T (p.D399V) - FLNC_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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