All 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 NM_006158.4 transcript reference sequence.

115 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Effect     

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     
-/. - c.-42del r.(?) p.(=) - benign g.24814071del g.24956557del NEFL(NM_006158.4):c.-42delT - NEFL_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.19G>A r.(?) p.(Glu7Lys) - pathogenic g.24814011C>T g.24956497C>T NEFL(NM_006158.4):c.19G>A (p.E7K) - NEFL_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 1 c.19G>A r.(?) p.(Glu7Lys) - pathogenic g.24814011C>T g.24956497C>T - - NEFL_000007 - PubMed: Jordanova 2003 - rs57848467 Germline - - - 0 - Johan den Dunnen
+/. - c.22C>A r.(?) p.(Pro8Thr) - pathogenic g.24814008G>T g.24956494G>T NEFL(NM_006158.4):c.22C>A (p.P8T) - NEFL_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.23C>A r.(?) p.(Pro8Gln) - pathogenic g.24814007G>T g.24956493G>T NEFL(NM_006158.4):c.23C>A (p.P8Q) - NEFL_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 1 c.23C>A r.(?) p.(Pro8Gln) - pathogenic g.24814007G>T g.24956493G>T - - NEFL_000069 - PubMed: Jordanova 2003 - rs61491953 Germline - - - 0 - Johan den Dunnen
+/. - c.23C>G r.(?) p.(Pro8Arg) - pathogenic g.24814007G>C g.24956493G>C NEFL(NM_006158.4):c.23C>G (p.P8R) - NEFL_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 1 c.23C>G r.(?) p.(Pro8Arg) - pathogenic g.24814007G>C g.24956493G>C - - NEFL_000034 - PubMed: Jordanova 2003 - rs61491953 Germline - - - 0 - Johan den Dunnen
-?/. - c.23C>G r.(?) p.(Pro8Arg) - likely benign g.24814007G>C g.24956493G>C - - NEFL_000034 - - - rs61491953 Germline - - - 0 - Carmen Espinós
+/. - c.23C>G r.(?) p.(Pro8Arg) - pathogenic (dominant) g.24814007G>C g.24956493G>C - - NEFL_000034 - PubMed: Antoniadi 2015 - rs61491953 Germline - - - 0 - Johan den Dunnen
+/. - c.23C>G r.(?) p.(Pro8Arg) - pathogenic (dominant) g.24814007G>C g.24956493G>C - - NEFL_000034 - PubMed: Antoniadi 2015 - rs61491953 Germline - - - 0 - Johan den Dunnen
+/. - c.23C>G r.(?) p.(Pro8Arg) - pathogenic (dominant) g.24814007G>C g.24956493G>C - - NEFL_000034 - PubMed: Lin 2011 - rs61491953 Germline - - - 0 - Johan den Dunnen
+/. - c.23C>G r.(?) p.(Pro8Arg) - pathogenic (dominant) g.24814007G>C g.24956493G>C - - NEFL_000034 - PubMed: Lin 2011 - rs61491953 Germline - - - 0 - Johan den Dunnen
+/. - c.23C>G r.(?) p.(Pro8Arg) - pathogenic (dominant) g.24814007G>C g.24956493G>C P8R - NEFL_000034 - PubMed: Horga 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.23C>T r.(?) p.(Pro8Leu) - pathogenic g.24814007G>A g.24956493G>A NEFL(NM_006158.4):c.23C>T (p.P8L) - NEFL_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 1 c.23C>T r.(?) p.(Pro8Leu) - pathogenic g.24814007G>A g.24956493G>A - - NEFL_000035 - PubMed: Jordanova 2003 - rs61491953 Germline - - - 0 - Johan den Dunnen
-?/. - c.45G>A r.(?) p.(Lys15=) - likely benign g.24813985C>T g.24956471C>T NEFL(NM_006158.4):c.45G>A (p.K15=) - NEFL_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.59_60insCTCCACGTAGCGC r.(?) p.(Glu20AspfsTer4) - pathogenic g.24813970_24813971insGCGCTACGTGGAG g.24956456_24956457insGCGCTACGTGGAG NEFL(NM_006158.4):c.59_60insCTCCACGTAGCGC (p.E20Dfs*4) - NEFL_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.64C>A r.(?) p.(Pro22Thr) - pathogenic g.24813966G>T g.24956452G>T NEFL(NM_006158.4):c.64C>A (p.P22T) - NEFL_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 1 c.64C>A r.(?) p.(Pro22Thr) - pathogenic (dominant) g.24813966G>T g.24956452G>T - - NEFL_000030 - - - rs28928910 Germline - 1/25 - 0 - Ki Wha Chung
+/. - c.64C>T r.(?) p.(Pro22Ser) - pathogenic g.24813966G>A g.24956452G>A NEFL(NM_006158.4):c.64C>T (p.P22S) - NEFL_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 1 c.64C>T r.(?) p.(Pro22Ser) - pathogenic g.24813966G>A g.24956452G>A - - NEFL_000031 - PubMed: Georgiou 2002 - rs28928910 Germline - - - 0 - Johan den Dunnen
+/. - c.64C>T r.(?) p.(Pro22Ser) - pathogenic (dominant) g.24813966G>A g.24956452G>A - - NEFL_000031 - PubMed: Lin 2011 - rs28928910 Germline - - - 0 - Johan den Dunnen
+/. 1 c.65C>G r.(?) p.(Pro22Arg) - pathogenic g.24813965G>C g.24956451G>C - - NEFL_000017 - PubMed: Shin 2008 - rs267607538 Germline - - - 0 - Johan den Dunnen
+/. - c.65C>G r.(?) p.(Pro22Arg) - pathogenic g.24813965G>C g.24956451G>C - - NEFL_000017 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - rs267607538 Germline - 1/612 cases - 0 - Johan den Dunnen
+/. - c.65C>G r.(?) p.(Pro22Arg) - pathogenic g.24813965G>C g.24956451G>C - - NEFL_000017 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - rs267607538 Germline yes 1/612 cases - 0 - Johan den Dunnen
-/. - c.123C>T r.(?) p.(Ser41=) - benign g.24813907G>A g.24956393G>A NEFL(NM_006158.4):c.123C>T (p.S41=) - NEFL_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.192G>A r.(?) p.(Leu64=) - benign g.24813838C>T g.24956324C>T NEFL(NM_006158.4):c.192G>A (p.L64=) - NEFL_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.227T>C r.(?) p.(Val76Ala) - benign g.24813803A>G g.24956289A>G NEFL(NM_006158.4):c.227T>C (p.V76A) - NEFL_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.227T>C r.(?) p.(Val76Ala) - likely benign g.24813803A>G g.24956289A>G - - NEFL_000027 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs58907919 Germline - 1/2795 individuals - 0 - Mohammed Faruq
?/. - c.262A>C r.(?) p.(Thr88Pro) - VUS g.24813768T>G g.24956254T>G NEFL(NM_006158.4):c.262A>C (p.T88P) - NEFL_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.262A>C r.(?) p.(Thr88Pro) - likely pathogenic g.24813768T>G g.24956254T>G NEFL(NM_006158.4):c.262A>C (p.T88P) - NEFL_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.262A>C r.(?) p.(Thr88Pro) - pathogenic g.24813768T>G g.24956254T>G NEFL(NM_006158.4):c.262A>C (p.T88P) - NEFL_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.262A>C r.(?) p.(Thr88Pro) - VUS g.24813768T>G - NEFL(NM_006158.4):c.262A>C (p.T88P) - NEFL_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.268G>A r.(?) p.(Glu90Lys) - pathogenic g.24813762C>T g.24956248C>T NEFL(NM_006158.4):c.268G>A (p.E90K) - NEFL_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 1 c.268G>A r.(?) p.(Glu90Lys) - pathogenic g.24813762C>T g.24956248C>T - - NEFL_000026 - PubMed: Jordanova 2003 - rs58332872 Germline - - - 0 - Johan den Dunnen
+/. - c.269A>G r.(?) p.(Glu90Gly) - pathogenic g.24813761T>C g.24956247T>C - - NEFL_000038 - - - - Germline yes - - 0 - Justine Lerat
+/. 1 c.269A>G r.? p.? - pathogenic g.24813761T>C - c.269A>G - NEFL_000038 no second gene variant - - - Germline yes - - 0 - LOVD
-/. - c.279G>A r.(?) p.(Gln93=) - benign g.24813751C>T g.24956237C>T NEFL(NM_006158.4):c.279G>A (p.Q93=) - NEFL_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.281T>A r.(?) p.(Leu94His) - VUS g.24813749A>T - NEFL(NM_006158.4):c.281T>A (p.L94H) - NEFL_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.281T>C r.(?) p.(Leu94Pro) - likely pathogenic g.24813749A>G g.24956235A>G NEFL(NM_006158.4):c.281T>C (p.L94P) - NEFL_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 1 c.281T>C r.(?) p.(Leu94Pro) - pathogenic g.24813749A>G g.24956235A>G - - NEFL_000024 - PubMed: Miltenberger-Miltenyi 2007 - rs62636505 Germline - - - 0 - Johan den Dunnen
+?/. - c.293A>C r.(?) p.(Asn98Thr) - likely pathogenic g.24813737T>G g.24956223T>G - - NEFL_000055 - - - rs58982919 Germline - - - 0 - Carmen Espinós
+/. - c.293A>G r.(?) p.(Asn98Ser) - pathogenic g.24813737T>C g.24956223T>C NEFL(NM_006158.4):c.293A>G (p.N98S) - NEFL_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 1 c.293A>G r.(?) p.(Asn98Ser) - pathogenic g.24813737T>C g.24956223T>C - - NEFL_000070 - PubMed: Yoshihara 2002 - rs58982919 Germline - - - 0 - Johan den Dunnen
+?/. - c.293A>G r.(?) p.(Asn98Ser) - likely pathogenic g.24813737T>G g.24956223T>C - - NEFL_000070 - - - rs58982919 Germline - - - 0 - Carmen Espinós
+/. - c.293A>G r.(?) p.(Asn98Ser) - pathogenic (dominant) g.24813737T>C g.24956223T>C - - NEFL_000070 - PubMed: Antoniadi 2015 - rs58982919 Germline - - - 0 - Johan den Dunnen
+/. 1 c.293A>G r.(?) p.(Asn98Ser) - pathogenic (dominant) g.24813737T>C g.24956223T>C N98S - NEFL_000070 - PubMed: Horga 2017 - rs58982919 De novo - 3/5 patients - 0 - Farina Kemper
+/. 1 c.293A>G r.(?) p.(Asn98Ser) - pathogenic (dominant) g.24813737T>C g.24956223T>C N98S - NEFL_000070 - PubMed: Horga 2017 - rs58982919 De novo - 3/5 patients - 0 - Farina Kemper
+/. 1 c.293A>G r.(?) p.(Asn98Ser) - pathogenic (dominant) g.24813737T>C g.24956223T>C N98S - NEFL_000070 - PubMed: Horga 2017 - rs58982919 De novo - 3/5 patients - 0 - Farina Kemper
+/. - c.293A>G r.(?) p.(Asn98Ser) - pathogenic g.24813737T>C g.24956223T>C c.293A>G - NEFL_000070 - PubMed: Thomas 2022 - - De novo - - - 0 - Johan den Dunnen
+/. 1 c.293A>G r.? p.? - pathogenic g.24813737T>C - c.293A>G - NEFL_000070 - - - rs58982919 Germline - - - 0 - LOVD
?/. - c.296A>C r.(?) p.(Asp99Ala) - VUS g.24813734T>G g.24956220T>G - - NEFL_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.299G>C r.(?) p.(Arg100Pro) - likely pathogenic (dominant) g.24813731C>G g.24956217C>G - - NEFL_000060 - PubMed: Antoniadi 2015 - - Germline - - - 0 - Johan den Dunnen
?/. - c.400C>T r.(?) p.(Arg134Cys) - VUS g.24813630G>A - - - NEFL_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 c.418G>T r.(?) p.(Glu140*) - pathogenic g.24813612C>A g.24956098C>A - - NEFL_000013 - PubMed: Abe 2009 - rs121913663 Germline - - - 0 - Johan den Dunnen
-/. - c.423G>A r.(?) p.(Gln141=) - benign g.24813607C>T g.24956093C>T NEFL(NM_006158.4):c.423G>A (p.Q141=) - NEFL_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.446C>T r.(?) p.(Ala149Val) - pathogenic g.24813584G>A g.24956070G>A NEFL(NM_006158.4):c.446C>T (p.A149V) - NEFL_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 1 c.446C>T r.(?) p.(Ala149Val) - pathogenic g.24813584G>A g.24956070G>A - - NEFL_000033 - PubMed: Yoshihara 2002 - rs59101996 Germline - - - 0 - Johan den Dunnen
+/. - c.487G>T r.(?) (p.Glu163*) - pathogenic (recessive) g.24813543C>A g.24956029C>A - - NEFL_000073 variant not in 500 healthy controls PubMed: Fu 2017 - - Germline - - - 0 - Farina Kemper
?/. - c.532T>A r.(?) p.(Tyr178Asn) - VUS g.24813498A>T g.24955984A>T NEFL(NM_006158.4):c.532T>A (p.Y178N) - NEFL_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 c.542dup r.(?) p.(Val182Glyfs*96) - pathogenic g.24813488dup g.24955974dup - - NEFL_000064 pathogenic for "Charcot-Marie-Tooth disease, dominant intermediate G" - - - Germline/De novo (untested) - - - 0 - Gemeinschaftspraxis für Humangenetik Dresden
-/. - c.582A>C r.(?) p.(Glu194Asp) - benign g.24813448T>G g.24955934T>G NEFL(NM_006158.4):c.582A>C (p.E194D) - NEFL_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 c.628G>T r.(?) p.(Glu210*) - pathogenic g.24813402C>A g.24955888C>A - - NEFL_000037 - PubMed: Yum 2009 - rs199422214 Germline - - - 0 - Johan den Dunnen
-/. - c.639C>G r.(?) p.(Ile213Met) - benign g.24813391G>C g.24955877G>C NEFL(NM_006158.4):c.639C>G (p.I213M) - NEFL_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.639C>G r.(?) p.(Ile213Met) - likely benign g.24813391G>C - NEFL(NM_006158.4):c.639C>G (p.I213M) - NEFL_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.667C>T r.(?) p.(Leu223=) - benign g.24813363G>A g.24955849G>A NEFL(NM_006158.4):c.667C>T (p.L223=) - NEFL_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.667C>T r.(?) p.(Leu223=) - likely benign g.24813363G>A g.24955849G>A NEFL(NM_006158.4):c.667C>T (p.L223=) - NEFL_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.720C>T r.(?) p.(Tyr240=) - benign g.24813310G>A g.24955796G>A NEFL(NM_006158.4):c.720C>T (p.Y240=) - NEFL_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.793_798del r.(?) p.(Tyr265_Glu266del) - VUS g.24813234_24813239del g.24955720_24955725del - - NEFL_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.794A>G r.(?) (p.Tyr265Cys) - likely pathogenic (dominant) g.24813236T>C g.24955722T>C - - NEFL_000072 - PubMed: Machado 2019 RCV0001438101 - Germline yes - - 0 - Farina Kemper
+/. - c.794A>G r.(?) (p.Tyr265Cys) - likely pathogenic (dominant) g.24813236T>C g.24955722T>C - - NEFL_000072 - PubMed: Machado 2019 RCV0001438101 - Germline yes - - 0 - Farina Kemper
+/. 1 c.794A>G r.(?) p.(Tyr265Cys) ACGS pathogenic (dominant) g.24813236T>C - - - NEFL_000072 proband, affected father and brother heterozygous, unaffected mother/brothers did not carry variant - - - Germline yes - - 0 - Sherifa Ahmed Hamed
+/. 1 c.803T>C r.(?) p.(Leu268Pro) - pathogenic g.24813227A>G g.24955713A>G - - NEFL_000018 - PubMed: Fabrizi 2007 - rs62636502 Germline - - - 0 - Johan den Dunnen
+?/. - c.803T>G r.(?) p.(Leu268Arg) - likely pathogenic (dominant) g.24813227A>C g.24955713A>C - - NEFL_000059 - PubMed: Antoniadi 2015 - rs62636502 Germline - - - 0 - Johan den Dunnen
+/. 1 c.932T>C r.(?) p.(Leu311Pro) - pathogenic (dominant) g.24813098A>G g.24955584A>G L311P - NEFL_000071 - PubMed: Horga 2017 - - Germline/De novo (untested) - 1/5 cases - 0 - Farina Kemper
?/. - c.935T>C r.(?) p.(Leu312Pro) - VUS g.24813095A>G g.24955581A>G - - NEFL_000001 Polyphen-2: prob. damaging (PSIC: 0,988) - - - Germline - - - 0 - Andreas Laner
?/. - c.943_948dup r.(?) p.(Lys315_Thr316dup) - VUS g.24813084_24813089dup g.24955570_24955575dup - - NEFL_000039 The effect ist unknown, but a pathogenic tendency of this variant is assumed. - - - Germline/De novo (untested) - - - 0 - Gemeinschaftspraxis für Humangenetik Dresden
+/. - c.995A>C r.(?) p.(Gln332Pro) - pathogenic g.24813035T>G g.24955521T>G NEFL(NM_006158.4):c.995A>C (p.Q332P) - NEFL_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 1 c.995A>C r.(?) p.(Gln332Pro) - pathogenic g.24813035T>G g.24955521T>G - - NEFL_000023 - PubMed: Mersiyanova 2000 - rs59443585 Germline - - - 0 - Johan den Dunnen
+/. - c.995A>C r.(?) p.(Gln332Pro) - pathogenic g.24813035T>G g.24955521T>G - - NEFL_000023 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - rs59443585 Germline - 1/612 cases - 0 - Johan den Dunnen
+/. - c.998T>C r.(?) p.(Leu333Pro) - pathogenic g.24813032A>G g.24955518A>G NEFL(NM_006158.4):c.998T>C (p.L333P) - NEFL_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 1 c.998T>C r.(?) p.(Leu333Pro) - pathogenic g.24813032A>G g.24955518A>G - - NEFL_000021 - PubMed: Choi 2004 - rs60930717 Germline - - - 0 - Johan den Dunnen
-?/. - 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_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1044+15G>C r.(=) p.(=) - likely benign g.24812971C>G - NEFL(NM_006158.4):c.1044+15G>C - NEFL_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1044+45G>C r.(=) p.(=) - benign g.24812941C>G g.24955427C>G - - NEFL_000002 - - - - Germline - - - 0 - Andreas Laner
-/. - c.1044+46G>A r.(=) p.(=) - benign g.24812940C>T g.24955426C>T - - NEFL_000003 - - - rs43338656 Germline - - - 0 - Andreas Laner
-/. - c.1080C>T r.(?) p.(Thr360=) - benign g.24811784G>A g.24954270G>A NEFL(NM_006158.4):c.1080C>T (p.T360=) - NEFL_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.1114T>G r.(?) p.(Tyr372Asp) - VUS g.24811750A>C g.24954236A>C - - NEFL_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 2 c.1150A>T r.(?) p.(Ile384Phe) - likely pathogenic g.24811714T>A g.24954200T>A - - NEFL_000067 - - - - Germline - 1/25 - 0 - Ki Wha Chung
-/. - c.1169+14G>A r.(=) p.(=) - benign g.24811681C>T g.24954167C>T NEFL(NM_006158.4):c.1169+14G>A - NEFL_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1170-13T>C r.(=) p.(=) - benign g.24811322A>G g.24953808A>G NEFL(NM_006158.4):c.1170-13T>C - NEFL_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+?/. - c.1178T>G r.(?) p.(Leu393Trp) - likely pathogenic g.24811301A>C g.24953787A>C - - NEFL_000054 - - - - Germline - - - 0 - Carmen Espinós
+/. - c.1186G>A r.(?) p.(Glu396Lys) - pathogenic g.24811293C>T g.24953779C>T NEFL(NM_006158.4):c.1186G>A (p.E396K) - NEFL_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 3 c.1186G>A r.(?) p.(Glu396Lys) - pathogenic (dominant) g.24811293C>T g.24953779C>T - - NEFL_000004 - - - - Germline - 1/25 - 0 - Ki Wha Chung
+/. 3 c.1186G>A r.(?) p.(Glu396Lys) - pathogenic g.24811293C>T g.24953779C>T - - NEFL_000004 - PubMed: Zuchner 2004 - - Germline - - - 0 - Johan den Dunnen
+/. - c.1186G>A r.(?) p.(Glu396Lys) - pathogenic g.24811293C>T g.24953779C>T - - NEFL_000004 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - 0 - Johan den Dunnen
+/. - c.1186G>A r.(?) p.(Glu396Lys) - pathogenic (dominant) g.24811293C>T g.24953779C>T - - NEFL_000004 - PubMed: Antoniadi 2015 - rs62636503 Germline - - - 0 - Johan den Dunnen
+/. - c.1186G>A r.(?) p.(Glu396Lys) - pathogenic (dominant) g.24811293C>T g.24953779C>T - - NEFL_000004 - PubMed: Lin 2011 - - Germline - - - 0 - Johan den Dunnen
+/. - c.1186G>A r.(?) p.(Glu396Lys) - pathogenic (dominant) g.24811293C>T g.24953779C>T - - NEFL_000004 - PubMed: Lin 2011 - - Germline - - - 0 - Johan den Dunnen
Legend   How to query   « First ‹ Prev     1 2     Next › Last »