Full data view for gene CFL2

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_138638.4 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
?/. _1 c.-482G>A r.(=) p.(=) Unknown - VUS g.35184228C>T g.34715022C>T - - CFL2_000011 - - - rs17525727 Germline - 0.16-0.18 - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-297dup r.(=) p.(=) Unknown - VUS g.35184050dup g.34714844dup - - CFL2_000003 - - - rs17523478 Germline - 0.16-0.21 - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.-241C>A r.(?) p.(=) Unknown - VUS g.35183987G>T g.34714781G>T - - CFL2_000002 - - - rs17523485 Germline - 0.17-0.54 - 0 - - - - - - - - - - - - - - - - - - -
?/. 1i c.3+99C>T r.(=) p.(=) Unknown - VUS g.35183645G>A g.34714439G>A - - CFL2_000004 - - - rs17523492 Germline - 0.03-0.50 - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.19G>A r.(?) p.(Val7Met) Unknown - VUS g.35182752C>T g.34713546C>T - - CFL2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.19G>A r.(?) p.(Val7Met) Both (homozygous) - pathogenic g.35182752C>T g.34713546C>T - - CFL2_000012 homozygosity mapping PubMed: Ockeloen 2012 - - Germline yes - - 0 - DNA arraySNP, SEQ - - MYOP 22560515-Pat1 PubMed: Ockeloen 2012 5-generation family, 2 affected sisters; older sister F no Iraq Kurdish >21y 0 - - 1 Johan den Dunnen
+/. 2 c.19G>A r.(?) p.(Val7Met) Both (homozygous) - pathogenic g.35182752C>T g.34713546C>T - - CFL2_000012 homozygosity mapping PubMed: Ockeloen 2012 - - Germline yes - - 0 - DNA arraySNP, SEQ - - MYOP 22560515-Pat2 PubMed: Ockeloen 2012 5-generation family, 2 affected sisters; younger sister F no Iraq Kurdish - 0 - - 1 Johan den Dunnen
+/. 2 c.103G>A r.(?) p.(Ala35Thr) Both (homozygous) - pathogenic g.35182668C>T g.34713462C>T - - CFL2_000001 shared 4.6Mb haplotype; not in 564 control chromosomes PubMed: Agrawal 2007, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - NEM 17160903-Fam1.VIa PubMed: Agrawal 2007 older sister of 17160903-Fam1.VIc; 6-generation family, 2 affecteds, 16 heterozygous non-affected carriers F - (United States) Middle-East - 0 - - 1 Alan Beggs
+/. 2 c.103G>A r.(?) p.(Ala35Thr) Both (homozygous) - pathogenic g.35182668C>T g.34713462C>T - - CFL2_000001 shared 4.6Mb haplotype; not in 564 control chromosomes; 4-20x more mRNA PubMed: Agrawal 2007, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - NEM 17160903-Fam1.VIc PubMed: Agrawal 2007 younger sister of 17160903-Fam1.VIa; 6-generation family, 2 affecteds, 16 heterozygous carriers F - (United States) Middle-East - 0 - - 1 Alan Beggs
+?/. 2 c.103G>A r.(?) p.Ala35Thr Unknown - NA g.35182668C>T g.34713462C>T - - CFL2_000001 pcDNA-DEST cloned; C2C12 normal expression, bacterial expression reduced stability and/or solubility, probable protein misfolding PubMed: Agrawal 2007, OMIM:var0001 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.235G>T r.(?) p.(Asp79Tyr) Paternal (confirmed) - pathogenic (recessive) g.35182536C>A g.34713330C>A - - CFL2_000020 - Fattori ESHG2018 P10.07 - - Germline yes - - 0 - DNA SEQ - - MYOP Fam2Pat1/2/3 Fattori ESHG2018 P10.07 2-generation family, affected brother and 2 sisters (2F, M), unaffected heterozygous carrier parents F;M no Italy - - 0 - - 3 Johan den Dunnen
+/. 2 c.256G>C r.(?) p.(Asp86His) Both (homozygous) - pathogenic (recessive) g.35182515C>G g.34713309C>G - - CFL2_000019 - Fattori ESHG2018 P10.07 - - Germline - - - 0 - DNA SEQ - - MYOP Fam1Pat1 Fattori ESHG2018 P10.07 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - 0 - - 1 Johan den Dunnen
+/. 2 c.281del r.(?) p.(Ser94Leufs*6) Maternal (confirmed) - pathogenic (recessive) g.35182490del g.34713284del 281delC - CFL2_000021 - Fattori ESHG2018 P10.07 - - Germline yes - - 0 - DNA SEQ - - MYOP Fam2Pat1/2/3 Fattori ESHG2018 P10.07 2-generation family, affected brother and 2 sisters (2F, M), unaffected heterozygous carrier parents F;M no Italy - - 0 - - 3 Johan den Dunnen
-/. 2i c.311+51_311+53del r.= p.= Unknown - benign g.35182415_35182417del g.34713209_34713211del - - CFL2_000010 - PubMed: Thirion 2001 - rs3835290 Germline - 5/13 - 0 - DNA, RNA RT-PCR, SEQ - - Healthy/Control con PubMed: Thirion 2001 - - - - - - 0 - - 5 Johan den Dunnen
-?/. 2i c.312-8T>C r.(=) p.(=) Unknown - likely benign g.35182350A>G g.34713144A>G CFL2(NM_138638.4):c.312-8T>C - CFL2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 2i c.312-8_312-7del r.(=) p.(=) Unknown - likely benign g.35182359_35182360del g.34713153_34713154del CFL2(NM_021914.7):c.312-8_312-7delTT - CFL2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 2i c.312-7del r.(=) p.(=) Unknown - benign g.35182360del g.34713154del CFL2(NM_138638.4):c.312-7delT - CFL2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 2i c.312-7del r.(=) p.(=) Unknown - likely benign g.35182360del g.34713154del CFL2(NM_138638.4):c.312-7delT - CFL2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.338del r.(?) p.(Ser113Thrfs*3) Both (homozygous) ACMG likely pathogenic g.35182316del g.34713110del - - CFL2_000014 - PubMed: Trujillano 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - NEM-7 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - 1 Daniel Trujillano
+?/. 3 c.353C>A r.(?) p.(Ala118Asp) Both (homozygous) - likely pathogenic g.35182301G>T g.34713095G>T - - CFL2_000013 - - - - Germline - - - 0 - DNA PCR, SEQ - - Healthy/Control myopathy, nemaline (NEM) - - M ? United States Hispanic - 0 - - 1 Tom Winder
?/. - c.437G>C r.(?) p.Arg146Pro Unknown ACMG VUS g.35182135C>G g.34712929C>G - - CFL2_000022 not regarded causative for phenotype in patient, co-occurrence with pathogenic variant in KIF21A - - - Germline - - - 0 - DNA SEQ-NG - - - - - - F - Germany - - 0 - - 1 Andreas Laner
?/. 4 c.*285A>G r.(?) p.(=) Unknown - VUS g.35181786T>C g.34712580T>C - - CFL2_000005 - - - rs9789 Germline - 0.12-0.73 - 0 - - - - - - - - - - - - - - - - - - -
?/. 4 c.*806C>T r.(?) p.(=) Unknown - VUS g.35181265G>A g.34712059G>A - - CFL2_000006 - - - rs1059318 Germline - 0.23 - 0 - - - - - - - - - - - - - - - - - - -
?/. 4 c.*1682A>T r.(?) p.(=) Unknown - VUS g.35180389T>A g.34711183T>A - - CFL2_000007 - - - rs712301 Germline - 0.35 - 0 - - - - - - - - - - - - - - - - - - -
?/. 4 c.*1905A>G r.(?) p.(=) Unknown - VUS g.35180166T>C g.34710960T>C - - CFL2_000008 - - - rs41528946 Germline - 0.00-0.25 - 0 - - - - - - - - - - - - - - - - - - -
?/. 4 c.*2038G>T r.(?) p.(=) Unknown - VUS g.35180033C>A g.34710827C>A - - CFL2_000009 - - - rs9491 Germline - 0.12-0.88 - 0 - - - - - - - - - - - - - - - - - - -
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