Unique variants in the NEFL gene

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

60 entries on 1 page. Showing entries 1 - 60.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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.-42del r.(?) p.(=) - benign g.24814071del g.24956557del NEFL(NM_006158.4):c.-42delT - NEFL_010052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 1 c.19G>A r.(?) p.(Glu7Lys) - pathogenic g.24814011C>T g.24956497C>T NEFL(NM_006158.4):c.19G>A (p.E7K) - NEFL_000006, NEFL_010037 VKGL data sharing initiative Nederland PubMed: Jordanova 2003 - rs57848467 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/. 1 - c.22C>A r.(?) p.(Pro8Thr) - pathogenic g.24814008G>T g.24956494G>T NEFL(NM_006158.4):c.22C>A (p.P8T) - NEFL_010036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 1 c.23C>A r.(?) p.(Pro8Gln) - pathogenic g.24814007G>T g.24956493G>T NEFL(NM_006158.4):c.23C>A (p.P8Q) - NEFL_000007, NEFL_010033 VKGL data sharing initiative Nederland PubMed: Jordanova 2003 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/. 2 1 c.23C>G r.(?) p.(Pro8Arg) - pathogenic g.24814007G>C g.24956493G>C NEFL(NM_006158.4):c.23C>G (p.P8R) - NEFL_000008, NEFL_010034 VKGL data sharing initiative Nederland PubMed: Jordanova 2003 - rs61491953 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/. 2 1 c.23C>T r.(?) p.(Pro8Leu) - pathogenic g.24814007G>A g.24956493G>A NEFL(NM_006158.4):c.23C>T (p.P8L) - NEFL_000009, NEFL_010035 VKGL data sharing initiative Nederland PubMed: Jordanova 2003 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
-?/. 1 - c.23G>C - - - likely benign g.24814007C>G - - - NEFL_010057 1 more item - - - Germline - - - - - Carmen Espinós
-?/. 1 - c.45G>A r.(?) p.(Lys15=) - likely benign g.24813985C>T g.24956471C>T NEFL(NM_006158.4):c.45G>A (p.K15=) - NEFL_010051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.59_60insCTCCACGTAGCGC r.(?) p.(Glu20AspfsTer4) - pathogenic g.24813970_24813971insGCGCTACGTGGAG g.24956456_24956457insGCGCTACGTGGAG NEFL(NM_006158.4):c.59_60insCTCCACGTAGCGC (p.E20Dfs*4) - NEFL_010050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 1 c.64C>A r.(?) p.(Pro22Thr) - pathogenic, pathogenic (dominant) g.24813966G>T g.24956452G>T NEFL(NM_006158.4):c.64C>A (p.P22T) - NEFL_000003, NEFL_010030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - 1/25 - - - Ki Wha Chung, VKGL-NL_AMC
+/. 2 1 c.64C>T r.(?) p.(Pro22Ser) - pathogenic g.24813966G>A g.24956452G>A NEFL(NM_006158.4):c.64C>T (p.P22S) - NEFL_000016, NEFL_010031 VKGL data sharing initiative Nederland PubMed: Georgiou 2002 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/. 3 1 c.65C>G r.(?) p.(Pro22Arg) - pathogenic g.24813965G>C g.24956451G>C - - NEFL_000017 - PubMed: Dohrn 2017, Journal: Dohrn 2017, PubMed: Shin 2008 - - Germline yes 1/612 cases - - - Johan den Dunnen
-/. 1 - c.123C>T r.(?) p.(Ser41=) - benign g.24813907G>A g.24956393G>A NEFL(NM_006158.4):c.123C>T (p.S41=) - NEFL_010029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.192G>A r.(?) p.(Leu64=) - benign g.24813838C>T g.24956324C>T NEFL(NM_006158.4):c.192G>A (p.L64=) - NEFL_010028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 2 - c.227T>C r.(?) p.(Val76Ala) - benign, likely benign g.24813803A>G g.24956289A>G NEFL(NM_006158.4):c.227T>C (p.V76A) - NEFL_010027 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs58907919 CLASSIFICATION record, Germline - 1/2795 individuals - - - VKGL-NL_AMC, Mohammed Faruq
+/., +?/., ?/. 4 - c.262A>C r.(?) p.(Thr88Pro) - likely pathogenic, pathogenic, VUS g.24813768T>G g.24956254T>G NEFL(NM_006158.4):c.262A>C (p.T88P) - NEFL_010049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/. 2 1 c.268G>A r.(?) p.(Glu90Lys) - pathogenic g.24813762C>T g.24956248C>T NEFL(NM_006158.4):c.268G>A (p.E90K) - NEFL_000010, NEFL_010026 VKGL data sharing initiative Nederland PubMed: Jordanova 2003 - rs58332872 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
-/. 1 - c.279G>A r.(?) p.(Gln93=) - benign g.24813751C>T g.24956237C>T NEFL(NM_006158.4):c.279G>A (p.Q93=) - NEFL_010025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.281T>A r.(?) p.(Leu94His) - VUS g.24813749A>T - NEFL(NM_006158.4):c.281T>A (p.L94H) - NEFL_010066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/., +?/. 2 1 c.281T>C r.(?) p.(Leu94Pro) - likely pathogenic, pathogenic g.24813749A>G g.24956235A>G NEFL(NM_006158.4):c.281T>C (p.L94P) - NEFL_000011, NEFL_010024 VKGL data sharing initiative Nederland PubMed: Miltenberger-Miltenyi 2007 - rs62636505 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/. 2 1 c.293A>G r.(?) p.(Asn98Ser) - pathogenic g.24813737T>C g.24956223T>C NEFL(NM_006158.4):c.293A>G (p.N98S) - NEFL_000012, NEFL_010023 VKGL data sharing initiative Nederland PubMed: Yoshihara 2002 - rs58982919 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+?/. 1 - c.293T>C - - - likely pathogenic g.24813737A>G - - - NEFL_010056 1 more item - - - Germline - - - - - Carmen Espinós
+?/. 1 - c.293T>G - - - likely pathogenic g.24813737A>C - - - NEFL_010055 1 more item - - - Germline - - - - - Carmen Espinós
?/. 1 - c.296A>C r.(?) p.(Asp99Ala) - VUS g.24813734T>G g.24956220T>G - - NEFL_010048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.400C>T r.(?) p.(Arg134Cys) - VUS g.24813630G>A - - - NEFL_010062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 1 c.418G>T r.(?) p.(Glu140*) - pathogenic g.24813612C>A g.24956098C>A - - NEFL_000013 - PubMed: Abe 2009 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.423G>A r.(?) p.(Gln141=) - benign g.24813607C>T g.24956093C>T NEFL(NM_006158.4):c.423G>A (p.Q141=) - NEFL_010022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 1 c.446C>T r.(?) p.(Ala149Val) - pathogenic g.24813584G>A g.24956070G>A NEFL(NM_006158.4):c.446C>T (p.A149V) - NEFL_000014, NEFL_010021 VKGL data sharing initiative Nederland PubMed: Yoshihara 2002 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
?/. 1 - c.532T>A r.(?) p.(Tyr178Asn) - VUS g.24813498A>T g.24955984A>T NEFL(NM_006158.4):c.532T>A (p.Y178N) - NEFL_010047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 1 c.542dup r.(?) p.(Val182Glyfs*96) - pathogenic g.24813488dup g.24955974dup - - NEFL_010064 pathogenic for "Charcot-Marie-Tooth disease, dominant intermediate G" - - - Germline/De novo (untested) - - - - - Gemeinschaftspraxis für Humangenetik Dresden
-/. 1 - c.582A>C r.(?) p.(Glu194Asp) - benign g.24813448T>G g.24955934T>G NEFL(NM_006158.4):c.582A>C (p.E194D) - NEFL_010046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 1 c.628G>T r.(?) p.(Glu210*) - pathogenic g.24813402C>A g.24955888C>A - - NEFL_000015 - PubMed: Yum 2009 - - Germline - - - - - Johan den Dunnen
-/., -?/. 2 - c.639C>G r.(?) p.(Ile213Met) - benign, likely benign g.24813391G>C g.24955877G>C NEFL(NM_006158.4):c.639C>G (p.I213M) - NEFL_010020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/., -?/. 2 - c.667C>T r.(?) p.(Leu223=) - benign, likely benign g.24813363G>A g.24955849G>A NEFL(NM_006158.4):c.667C>T (p.L223=) - NEFL_010045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 1 - c.720C>T r.(?) p.(Tyr240=) - benign g.24813310G>A g.24955796G>A NEFL(NM_006158.4):c.720C>T (p.Y240=) - NEFL_010019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.793_798del r.(?) p.(Tyr265_Glu266del) - VUS g.24813234_24813239del g.24955720_24955725del - - NEFL_010044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 1 c.803T>C r.(?) p.(Leu268Pro) - pathogenic g.24813227A>G g.24955713A>G - - NEFL_000018 - PubMed: Fabrizi 2007 - rs62636502 Germline - - - - - Johan den Dunnen
?/. 1 - c.943_948dup r.(?) p.(Lys315_Thr316dup) - VUS g.24813084_24813089dup g.24955570_24955575dup - - NEFL_010039 The effect ist unknown, but a pathogenic tendency of this variant is assumed. - - - Germline/De novo (untested) - - - - - Gemeinschaftspraxis für Humangenetik Dresden
+/. 3 1 c.995A>C r.(?) p.(Gln332Pro) - pathogenic g.24813035T>G g.24955521T>G NEFL(NM_006158.4):c.995A>C (p.Q332P) - NEFL_000019, NEFL_010018 VKGL data sharing initiative Nederland PubMed: Dohrn 2017, Journal: Dohrn 2017, PubMed: Mersiyanova 2000 - rs59443585 CLASSIFICATION record, Germline - 1/612 cases - - - Johan den Dunnen, VKGL-NL_AMC
+/. 2 1 c.998T>C r.(?) p.(Leu333Pro) - pathogenic g.24813032A>G g.24955518A>G NEFL(NM_006158.4):c.998T>C (p.L333P) - NEFL_000020, NEFL_010017 VKGL data sharing initiative Nederland PubMed: Choi 2004 - rs60930717 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
-?/. 1 - c.1044+8_1044+92del r.(=) p.(=) - likely benign g.24812902_24812986del g.24955388_24955472del NEFL(NM_006158.4):c.1044+8_1044+92del - NEFL_010043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1044+15G>C r.(=) p.(=) - likely benign g.24812971C>G - NEFL(NM_006158.4):c.1044+15G>C - NEFL_010061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1080C>T r.(?) p.(Thr360=) - benign g.24811784G>A g.24954270G>A NEFL(NM_006158.4):c.1080C>T (p.T360=) - NEFL_010015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1114T>G r.(?) p.(Tyr372Asp) - VUS g.24811750A>C g.24954236A>C - - NEFL_010042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 2 c.1150A>T r.(?) p.(Ile384Phe) - likely pathogenic g.24811714T>A g.24954200T>A - - NEFL_000002 - - - - Germline - 1/25 - - - Ki Wha Chung
-/. 1 - c.1169+14G>A r.(=) p.(=) - benign g.24811681C>T g.24954167C>T NEFL(NM_006158.4):c.1169+14G>A - NEFL_010014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1170-13T>C r.(=) p.(=) - benign g.24811322A>G g.24953808A>G NEFL(NM_006158.4):c.1170-13T>C - NEFL_010016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.1178A>C - - - likely pathogenic g.24811301T>G - - - NEFL_010054 1 more item - - - Germline - - - - - Carmen Espinós
+/. 4 3 c.1186G>A r.(?) p.(Glu396Lys) - pathogenic, pathogenic (dominant) g.24811293C>T g.24953779C>T NEFL(NM_006158.4):c.1186G>A (p.E396K) - NEFL_000001, NEFL_000004, NEFL_010013 VKGL data sharing initiative Nederland PubMed: Dohrn 2017, Journal: Dohrn 2017, PubMed: Zuchner 2004 - - CLASSIFICATION record, Germline - 1/25, 1/612 cases - - - Johan den Dunnen, Ki Wha Chung, VKGL-NL_AMC
-/. 1 - c.1212C>T r.(?) p.(Ser404=) - benign g.24811267G>A g.24953753G>A NEFL(NM_006158.4):c.1212C>T (p.S404=) - NEFL_010012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.1315A>T - - - likely pathogenic g.24811164T>A - - - NEFL_010053 1 more item - - - Germline - - - - - Carmen Espinós
+/. 1 3 c.1319C>T r.(?) p.(Pro440Leu) - pathogenic g.24811160G>A g.24953646G>A - - NEFL_000005 - PubMed: Benedetti 2010 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.1402G>A r.(?) p.(Asp468Asn) - benign g.24811077C>T g.24953563C>T NEFL(NM_006158.4):c.1402G>A (p.D468N) - NEFL_010011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.1406_1408= r.(=) p.(Glu469=) - benign g.24811071del g.24953557del NEFL(NM_006158.4):c.1413delC (p.S472Lfs*78) - NEFL_010009, NEFL_010010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
-/. 1 - c.1457C>T r.(?) p.(Ala486Val) - benign g.24811021G>A g.24953508G>A NEFL(NM_006158.4):c.1457C>T (p.A486V) - NEFL_010008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1529_1531del r.(?) p.(Glu510del) - benign g.24810436_24810438del g.24952923_24952925del NEFL(NM_006158.4):c.1529_1531delAAG (p.E510del) - NEFL_010041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1571_1572insG r.(?) p.(Glu525ArgfsTer7) - likely benign g.24810383_24810384insC g.24952870_24952871insC NEFL(NM_006158.4):c.1571_1572insG (p.E525Rfs*7) - NEFL_010040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1579_1581del r.(?) p.(Glu527del) - benign g.24810380_24810382del g.24952867_24952869del NEFL(NM_006158.4):c.1578_1580delGAG (p.E527del), NEFL(NM_006158.4):c.1579_1581delGAG (p.E527del) - NEFL_010005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1610A>G r.(?) p.(Gln537Arg) - likely benign g.24810345T>C - NEFL(NM_006158.4):c.1610A>G (p.Q537R) - NEFL_010065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*1100C>T r.(=) p.(=) - likely benign g.24809223G>A g.24951710G>A - - NEFL_010058 51 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79736124 Germline - 51/2795 individuals - - - Mohammed Faruq
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