Full data view for gene NEFL

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.

85 entries on 1 page. Showing entries 1 - 85.
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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     
-/. - c.-42del r.(?) p.(=) Unknown - benign g.24814071del g.24956557del NEFL(NM_006158.4):c.-42delT - NEFL_010052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.19G>A r.(?) p.(Glu7Lys) Unknown - pathogenic g.24814011C>T g.24956497C>T NEFL(NM_006158.4):c.19G>A (p.E7K) - NEFL_010037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.19G>A r.(?) p.(Glu7Lys) Unknown - pathogenic g.24814011C>T g.24956497C>T - - NEFL_000006 - PubMed: Jordanova 2003 - rs57848467 Germline - - - 0 - DNA SEQ - - CMT-2 - PubMed: Jordanova 2003 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.22C>A r.(?) p.(Pro8Thr) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.23C>A r.(?) p.(Pro8Gln) Unknown - pathogenic g.24814007G>T g.24956493G>T NEFL(NM_006158.4):c.23C>A (p.P8Q) - NEFL_010033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.23C>A r.(?) p.(Pro8Gln) Unknown - pathogenic g.24814007G>T g.24956493G>T - - NEFL_000007 - PubMed: Jordanova 2003 - - Germline - - - 0 - DNA SEQ - - CMT-2 - PubMed: Jordanova 2003 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.23C>G r.(?) p.(Pro8Arg) Unknown - pathogenic g.24814007G>C g.24956493G>C NEFL(NM_006158.4):c.23C>G (p.P8R) - NEFL_010034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.23C>G r.(?) p.(Pro8Arg) Unknown - pathogenic g.24814007G>C g.24956493G>C - - NEFL_000008 - PubMed: Jordanova 2003 - rs61491953 Germline - - - 0 - DNA SEQ - - CMT-2 - PubMed: Jordanova 2003 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.23C>T r.(?) p.(Pro8Leu) Unknown - pathogenic g.24814007G>A g.24956493G>A NEFL(NM_006158.4):c.23C>T (p.P8L) - NEFL_010035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.23C>T r.(?) p.(Pro8Leu) Unknown - pathogenic g.24814007G>A g.24956493G>A - - NEFL_000009 - PubMed: Jordanova 2003 - - Germline - - - 0 - DNA SEQ - - CMT-2 - PubMed: Jordanova 2003 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.23G>C - - Unknown - likely benign g.24814007C>G - - - NEFL_010057 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Germline - - - 0 - DNA SEQ Blood - CMT-2 ? - - - - Spain - - 0 - - 1 Carmen Espinós
-?/. - c.45G>A r.(?) p.(Lys15=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.59_60insCTCCACGTAGCGC r.(?) p.(Glu20AspfsTer4) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.64C>A r.(?) p.(Pro22Thr) Unknown - pathogenic g.24813966G>T g.24956452G>T NEFL(NM_006158.4):c.64C>A (p.P22T) - NEFL_010030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.64C>A r.(?) p.(Pro22Thr) Paternal (inferred) - pathogenic (dominant) g.24813966G>T g.24956452G>T - - NEFL_000003 - - - - Germline - 1/25 - 0 - DNA SEQ - - CMT - - family, 2 affecteds F no Korea, South (Republic) Korean - 0 - - 1 Ki Wha Chung
+/. - c.64C>T r.(?) p.(Pro22Ser) Unknown - pathogenic g.24813966G>A g.24956452G>A NEFL(NM_006158.4):c.64C>T (p.P22S) - NEFL_010031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.64C>T r.(?) p.(Pro22Ser) Unknown - pathogenic g.24813966G>A g.24956452G>A - - NEFL_000016 - PubMed: Georgiou 2002 - - Germline - - - 0 - DNA SEQ - - CMT-2 - PubMed: Georgiou 2002 - - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.65C>G r.(?) p.(Pro22Arg) Unknown - pathogenic g.24813965G>C g.24956451G>C - - NEFL_000017 - PubMed: Shin 2008 - - Germline - - - 0 - DNA SEQ - - CMT - PubMed: Shin 2008 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.65C>G r.(?) p.(Pro22Arg) Parent #1 - pathogenic g.24813965G>C g.24956451G>C - - NEFL_000017 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - 0 - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat32 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - 1 Johan den Dunnen
+/. - c.65C>G r.(?) p.(Pro22Arg) Parent #1 - pathogenic g.24813965G>C g.24956451G>C - - NEFL_000017 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline yes 1/612 cases - 0 - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat33 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - 1 Johan den Dunnen
-/. - c.123C>T r.(?) p.(Ser41=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.192G>A r.(?) p.(Leu64=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.227T>C r.(?) p.(Val76Ala) Unknown - benign g.24813803A>G g.24956289A>G NEFL(NM_006158.4):c.227T>C (p.V76A) - NEFL_010027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.227T>C r.(?) p.(Val76Ala) Parent #1 - likely benign g.24813803A>G g.24956289A>G - - NEFL_010027 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs58907919 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - c.262A>C r.(?) p.(Thr88Pro) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.262A>C r.(?) p.(Thr88Pro) Unknown - likely pathogenic g.24813768T>G g.24956254T>G NEFL(NM_006158.4):c.262A>C (p.T88P) - NEFL_010049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.262A>C r.(?) p.(Thr88Pro) Unknown - pathogenic g.24813768T>G g.24956254T>G NEFL(NM_006158.4):c.262A>C (p.T88P) - NEFL_010049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.262A>C r.(?) p.(Thr88Pro) Unknown - VUS g.24813768T>G - NEFL(NM_006158.4):c.262A>C (p.T88P) - NEFL_010049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.268G>A r.(?) p.(Glu90Lys) Unknown - pathogenic g.24813762C>T g.24956248C>T NEFL(NM_006158.4):c.268G>A (p.E90K) - NEFL_010026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.268G>A r.(?) p.(Glu90Lys) Unknown - pathogenic g.24813762C>T g.24956248C>T - - NEFL_000010 - PubMed: Jordanova 2003 - rs58332872 Germline - - - 0 - DNA SEQ - - CMT-2 - PubMed: Jordanova 2003 - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.279G>A r.(?) p.(Gln93=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.281T>A r.(?) p.(Leu94His) Unknown - VUS g.24813749A>T - NEFL(NM_006158.4):c.281T>A (p.L94H) - NEFL_010066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.281T>C r.(?) p.(Leu94Pro) Unknown - likely pathogenic g.24813749A>G g.24956235A>G NEFL(NM_006158.4):c.281T>C (p.L94P) - NEFL_010024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.281T>C r.(?) p.(Leu94Pro) Unknown - pathogenic g.24813749A>G g.24956235A>G - - NEFL_000011 - PubMed: Miltenberger-Miltenyi 2007 - rs62636505 Germline - - - 0 - DNA SEQ - - CMT-2 - PubMed: Miltenberger-Miltenyi 2007 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.293A>G r.(?) p.(Asn98Ser) Unknown - pathogenic g.24813737T>C g.24956223T>C NEFL(NM_006158.4):c.293A>G (p.N98S) - NEFL_010023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.293A>G r.(?) p.(Asn98Ser) Unknown - pathogenic g.24813737T>C g.24956223T>C - - NEFL_000012 - PubMed: Yoshihara 2002 - rs58982919 Germline - - - 0 - DNA SEQ - - CMT - PubMed: Yoshihara 2002 - - - - - - 0 - - 1 Johan den Dunnen
+?/. - c.293T>C - - Unknown - likely pathogenic g.24813737A>G - - - NEFL_010056 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Germline - - - 0 - DNA SEQ Blood - CMT-2 ? - - - - Spain - - 0 - - 1 Carmen Espinós
+?/. - c.293T>G - - Unknown - likely pathogenic g.24813737A>C - - - NEFL_010055 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Germline - - - 0 - DNA SEQ Blood - CMT-2 ? - - - - Spain - - 0 - - 1 Carmen Espinós
?/. - c.296A>C r.(?) p.(Asp99Ala) Unknown - VUS g.24813734T>G g.24956220T>G - - NEFL_010048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.400C>T r.(?) p.(Arg134Cys) Unknown - VUS g.24813630G>A - - - NEFL_010062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.418G>T r.(?) p.(Glu140*) Unknown - pathogenic g.24813612C>A g.24956098C>A - - NEFL_000013 - PubMed: Abe 2009 - - Germline - - - 0 - DNA SEQ - - CMT - PubMed: Abe 2009 - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.423G>A r.(?) p.(Gln141=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.446C>T r.(?) p.(Ala149Val) Unknown - pathogenic g.24813584G>A g.24956070G>A NEFL(NM_006158.4):c.446C>T (p.A149V) - NEFL_010021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.446C>T r.(?) p.(Ala149Val) Unknown - pathogenic g.24813584G>A g.24956070G>A - - NEFL_000014 - PubMed: Yoshihara 2002 - - Germline - - - 0 - DNA SEQ - - CMT - PubMed: Yoshihara 2002 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.532T>A r.(?) p.(Tyr178Asn) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.542dup r.(?) p.(Val182Glyfs*96) Unknown - pathogenic g.24813488dup g.24955974dup - - NEFL_010064 pathogenic for "Charcot-Marie-Tooth disease, dominant intermediate G" - - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG - - CMT-1F - - - - - - - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
-/. - c.582A>C r.(?) p.(Glu194Asp) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.628G>T r.(?) p.(Glu210*) Unknown - pathogenic g.24813402C>A g.24955888C>A - - NEFL_000015 - PubMed: Yum 2009 - - Germline - - - 0 - DNA SEQ - - neuropathy - PubMed: Yum 2009 - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.639C>G r.(?) p.(Ile213Met) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.639C>G r.(?) p.(Ile213Met) Unknown - likely benign g.24813391G>C - NEFL(NM_006158.4):c.639C>G (p.I213M) - NEFL_010020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.667C>T r.(?) p.(Leu223=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.667C>T r.(?) p.(Leu223=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.720C>T r.(?) p.(Tyr240=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.793_798del r.(?) p.(Tyr265_Glu266del) Unknown - VUS g.24813234_24813239del g.24955720_24955725del - - NEFL_010044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.803T>C r.(?) p.(Leu268Pro) Unknown - pathogenic g.24813227A>G g.24955713A>G - - NEFL_000018 - PubMed: Fabrizi 2007 - rs62636502 Germline - - - 0 - DNA SEQ - - CMT-2 - PubMed: Fabrizi 2007 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.943_948dup r.(?) p.(Lys315_Thr316dup) Unknown - 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) - - - 0 - DNA SEQ-NG - - CMT-1F - - - - - - - - 0 - - 1 Gemeinschaftspraxis für Humangenetik Dresden
+/. - c.995A>C r.(?) p.(Gln332Pro) Unknown - pathogenic g.24813035T>G g.24955521T>G NEFL(NM_006158.4):c.995A>C (p.Q332P) - NEFL_010018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.995A>C r.(?) p.(Gln332Pro) Unknown - pathogenic g.24813035T>G g.24955521T>G - - NEFL_000019 - PubMed: Mersiyanova 2000 - rs59443585 Germline - - - 0 - DNA SEQ - - CMT-2 - PubMed: Mersiyanova 2000 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.995A>C r.(?) p.(Gln332Pro) Parent #1 - pathogenic g.24813035T>G g.24955521T>G - - NEFL_000019 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - 0 - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat34 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - 1 Johan den Dunnen
+/. - c.998T>C r.(?) p.(Leu333Pro) Unknown - pathogenic g.24813032A>G g.24955518A>G NEFL(NM_006158.4):c.998T>C (p.L333P) - NEFL_010017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.998T>C r.(?) p.(Leu333Pro) Unknown - pathogenic g.24813032A>G g.24955518A>G - - NEFL_000020 - PubMed: Choi 2004 - rs60930717 Germline - - - 0 - DNA SEQ - - CMT-2 - PubMed: Choi 2004 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.1044+8_1044+92del r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1044+15G>C r.(=) p.(=) Unknown - likely benign g.24812971C>G - NEFL(NM_006158.4):c.1044+15G>C - NEFL_010061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1080C>T r.(?) p.(Thr360=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1114T>G r.(?) p.(Tyr372Asp) Unknown - VUS g.24811750A>C g.24954236A>C - - NEFL_010042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.1150A>T r.(?) p.(Ile384Phe) Maternal (confirmed) - likely pathogenic g.24811714T>A g.24954200T>A - - NEFL_000002 - - - - Germline - 1/25 - 0 - DNA DSCA, SEQ - - CMT - - family, 6 affecteds M no Korea, South (Republic) Korean - 0 - - 1 Ki Wha Chung
-/. - c.1169+14G>A r.(=) p.(=) Unknown - benign g.24811681C>T g.24954167C>T NEFL(NM_006158.4):c.1169+14G>A - NEFL_010014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1170-13T>C r.(=) p.(=) Unknown - benign g.24811322A>G g.24953808A>G NEFL(NM_006158.4):c.1170-13T>C - NEFL_010016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1178A>C - - Unknown - likely pathogenic g.24811301T>G - - - NEFL_010054 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Germline - - - 0 - DNA SEQ Blood - CMT-2 ? - - - - Spain - - 0 - - 1 Carmen Espinós
+/. - c.1186G>A r.(?) p.(Glu396Lys) Unknown - pathogenic g.24811293C>T g.24953779C>T NEFL(NM_006158.4):c.1186G>A (p.E396K) - NEFL_010013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.1186G>A r.(?) p.(Glu396Lys) Maternal (confirmed) - pathogenic (dominant) g.24811293C>T g.24953779C>T - - NEFL_000001 - - - - Germline - 1/25 - 0 - DNA DSCA, SEQ - - CMT - - family, 3 affecteds F no Korea, South (Republic) Korean - 0 - - 1 Ki Wha Chung
+/. 3 c.1186G>A r.(?) p.(Glu396Lys) Unknown - pathogenic g.24811293C>T g.24953779C>T - - NEFL_000004 - PubMed: Zuchner 2004 - - Germline - - - 0 - DNA SEQ - - CMT - PubMed: Zuchner 2004 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.1186G>A r.(?) p.(Glu396Lys) Parent #1 - pathogenic g.24811293C>T g.24953779C>T - - NEFL_000001 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - 0 - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat31 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - 1 Johan den Dunnen
-/. - c.1212C>T r.(?) p.(Ser404=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1315A>T - - Unknown - likely pathogenic g.24811164T>A - - - NEFL_010053 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Germline - - - 0 - DNA SEQ Blood - CMT-2 ? - - - - Spain - - 0 - - 1 Carmen Espinós
+/. 3 c.1319C>T r.(?) p.(Pro440Leu) Unknown - pathogenic g.24811160G>A g.24953646G>A - - NEFL_000005 - PubMed: Benedetti 2010 - - Germline - - - 0 - DNA SEQ - - CMT - PubMed: Benedetti 2010 - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.1402G>A r.(?) p.(Asp468Asn) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1406_1408= r.(=) p.(Glu469=) Unknown - benign g.24811071del g.24953557del NEFL(NM_006158.4):c.1413delC (p.S472Lfs*78) - NEFL_010009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1406_1408= r.(=) p.(Glu469=) Unknown - benign g.24811071del g.24953557del NEFL(NM_006158.4):c.1413delC (p.S472Lfs*78) - NEFL_010010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1457C>T r.(?) p.(Ala486Val) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1529_1531del r.(?) p.(Glu510del) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1571_1572insG r.(?) p.(Glu525ArgfsTer7) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1579_1581del r.(?) p.(Glu527del) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1610A>G r.(?) p.(Gln537Arg) Unknown - likely benign g.24810345T>C - NEFL(NM_006158.4):c.1610A>G (p.Q537R) - NEFL_010065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1100C>T r.(=) p.(=) Parent #1 - 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 - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 51 Mohammed Faruq
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