Full data view for gene CHRNE

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000080.3 transcript reference sequence.

489 entries on 5 pages. Showing entries 1 - 100.
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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_2 c.-906_130delinsCGCATCCAAGA r.0? p.0? Maternal (confirmed) - pathogenic g.4805975_4807264delinsTCTTGGATGCG g.4902680_4903969delinsTCTTGGATGCG - - CHRNE_000081 1.29 Kb deletion promoter-exon 2; fusion transcripts containing 5' GP1BA sequences PubMed: Abicht 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CMS - PubMed: Abicht 2002 2-generation family, unaffected parents/6 siblings M - Germany - >36y - - - 1 Angela Abicht
+/. 1_2 c.-906_130delinsCGCATCCAAGA r.? p.? Parent #1 - pathogenic g.4805975_4807264delinsTCTTGGATGCG g.4902680_4903969delinsTCTTGGATGCG - - CHRNE_000081 1.29 Kb deletion promoter-exon 2 PubMed: Abicht 2002 - - Germline - - - - - DNA SEQ - - - - PubMed: Abicht 2002 unaffected carrier father, brother M - Germany - - - - - 2 Angela Abicht
+/. 1 c.-96C>T r.(?) p.(=) Paternal (confirmed) - pathogenic g.4806454G>A g.4903159G>A -156C>T - CHRNE_000071 affects promoter N-box PubMed: Nichols 1999 - - Germline - - MspI- - - DNA SEQ, SSCA - - CMS - PubMed: Nichols 1999 2-generation family, affected brother/sister F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 1 c.-96C>T r.(?) p.(=) Maternal (confirmed) - pathogenic g.4806454G>A g.4903159G>A -156C>T - CHRNE_000071 affects promoter N-box PubMed: Nichols 1999 - - Germline - - MspI- - - DNA SEQ, SSCA - - CMS - PubMed: Nichols 1999 2-generation family, affected brother/sister F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 1 c.-96C>T r.(?) p.(=) Paternal (confirmed) - pathogenic g.4806454G>A g.4903159G>A -156C>T - CHRNE_000071 affects promoter N-box, no CHRNE mRNA expression PubMed: Nichols 1999 - - Germline - - MspI- - - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Nichols 1999 2-generation family, affected brother/sister M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 1 c.-96C>T r.(?) p.(=) Maternal (confirmed) - pathogenic g.4806454G>A g.4903159G>A -156C>T - CHRNE_000071 affects promoter N-box, no CHRNE mRNA expression PubMed: Nichols 1999 - - Germline - - MspI- - - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Nichols 1999 2-generation family, affected brother/sister M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 1 c.-96C>T r.(?) p.(=) Parent #1 - pathogenic g.4806454G>A g.4903159G>A -156C>T - CHRNE_000071 affects promoter N-box PubMed: Nichols 1999 - - Germline - - MspI- - - DNA SEQ, SSCA - - - - PubMed: Nichols 1999 unaffected carrier parents and 2 sisters - - United Kingdom (Great Britain) - - - - - 4 Johan den Dunnen
+?/. - c.-96C>T r.(?) p.(?) Unknown ACMG likely pathogenic g.4806454G>A g.4903159G>A - - CHRNE_000071 ACMG: PS3,PM2 - - rs748144899 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+/. 1 c.-95G>A r.(?) p.(=) Paternal (confirmed) - pathogenic g.4806453C>T g.4903158C>T -155G>A - CHRNE_000074 not in 182 CMS/200 control chromosomes; affects Ets binding site promoter mouse (Duclert 1996) PubMed: Ohno 1999 - - Germline - - MspI- - - DNA SEQ - - CMS - PubMed: Ohno 1999 2-generation family, affected brother/sister, unaffected carrier parents M - Turkey - >12y - - - 1 Johan den Dunnen
+/. 1 c.-95G>A r.(?) p.(=) Maternal (confirmed) - pathogenic g.4806453C>T g.4903158C>T -155G>A - CHRNE_000074 not in 182 CMS/200 control chromosomes; affects Ets binding site promoter mouse (Duclert 1996) PubMed: Ohno 1999 - - Germline - - MspI- - - DNA SEQ - - CMS - PubMed: Ohno 1999 2-generation family, affected brother/sister, unaffected carrier parents M - Turkey - >12y - - - 1 Johan den Dunnen
+/. 1 c.-95G>A r.(?) p.(=) Paternal (confirmed) - pathogenic g.4806453C>T g.4903158C>T -155G>A - CHRNE_000074 not in 182 CMS/200 control chromosomes; affects Ets binding site promoter mouse (Duclert 1996) PubMed: Ohno 1999 - - Germline - - MspI- - - DNA SEQ - - CMS - PubMed: Ohno 1999 2-generation family, affected brother/sister, unaffected carrier parents F - Turkey - >14y - - - 1 Johan den Dunnen
+/. 1 c.-95G>A r.(?) p.(=) Maternal (confirmed) - pathogenic g.4806453C>T g.4903158C>T -155G>A - CHRNE_000074 not in 182 CMS/200 control chromosomes; affects Ets binding site promoter mouse (Duclert 1996) PubMed: Ohno 1999 - - Germline - - MspI- - - DNA SEQ - - CMS - PubMed: Ohno 1999 2-generation family, affected brother/sister, unaffected carrier parents F - Turkey - >14y - - - 1 Johan den Dunnen
+/. 1 c.-95G>A r.(?) p.(=) Maternal (confirmed) - pathogenic g.4806453C>T g.4903158C>T -155G>A - CHRNE_000074 not in 182 CMS/200 control chromosomes; affects Ets binding site promoter mouse (Duclert 1996) PubMed: Ohno 1999 - - Germline - - MspI- - - DNA SEQ - - - - PubMed: Ohno 1999 unaffected carrier parents and brother - - Turkey - - - - - 3 Johan den Dunnen
+/. 1 c.-95G>A r.(?) p.(=) Parent #1 - pathogenic g.4806453C>T g.4903158C>T - - CHRNE_000074 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Czech Republic - - - - - 1 Angela Abicht
+/. - c.-94G>A r.(=) p.(=) Both (homozygous) - pathogenic g.4806452C>T g.4903157C>T - - CHRNE_000136 promoter mutation published as -154G>A in N-bo - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+/. 1 c.-94G>A r.(?) p.(=) Unknown - NA g.4806452C>T g.4903157C>T -154G>A - CHRNE_000080 reporter gene construct rat soleus muscle not induced by agrin PubMed: Abicht 2002 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.-94G>A r.(?) p.(=) Maternal (confirmed) - pathogenic g.4806452C>T g.4903157C>T -154G>A - CHRNE_000080 not in 84 CMS/104 control chromosomes; severely reduced expression PubMed: Abicht 2002 - - Germline - - MspI- - - DNA, RNA RT-PCR, SEQ - - CMS - PubMed: Abicht 2002 2-generation family, unaffected parents/6 siblings M - Germany - >36y - - - 1 Angela Abicht
+/. 1 c.-94G>A r.(?) p.(=) Parent #1 - pathogenic g.4806452C>T g.4903157C>T -154G>A - CHRNE_000080 - PubMed: Abicht 2002 - - Germline - - MspI- - - DNA SEQ - - - - PubMed: Abicht 2002 unaffected carrier mother, sister F - Germany - - - - - 2 Angela Abicht
+/. 1 c.-94G>A r.(?) p.(=) Paternal (inferred) - pathogenic g.4806452C>T g.4903157C>T - - CHRNE_000080 - - - - Germline - - MspI- - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
+/. 1 c.-94G>A r.(?) p.(=) Maternal (inferred) - pathogenic g.4806452C>T g.4903157C>T - - CHRNE_000080 - - - - Germline - - MspI- - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
-/. 1 c.-60C>T r.(?) p.(=) Unknown - benign g.4806418G>A g.4903123G>A C362T (P121L) - CHRNE_000079 - PubMed: Ohno 1996 - - Germline - - - - - DNA SEQ, SSCA - - CMS - PubMed: Ohno 1996 2-generation family, affected brother/sister, unaffected carrier parents M - - - - - - - 1 Johan den Dunnen
-/. 1 c.-60C>T r.(?) p.(=) Unknown - benign g.4806418G>A g.4903123G>A C362T (P121L) - CHRNE_000079 - PubMed: Ohno 1996 - - Germline - - - - - DNA SEQ, SSCA - - CMS - PubMed: Ohno 1996 2-generation family, affected brother/sister, unaffected carrier parents F - - - - - - - 1 Johan den Dunnen
+/. 8 c.917G<T r.spl? p.(Arg306Met) Parent #1 - pathogenic g.? - - - CHRNE_000110 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Brazil - - - - - 1 Angela Abicht
+/. 8 c.917G<T r.spl? p.(Arg306Met) Parent #2 - pathogenic g.? - - - CHRNE_000110 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Brazil - - - - - 1 Angela Abicht
+/. 8 c.917G<T r.spl? p.(Arg306Met) Parent #1 - pathogenic g.? - - - CHRNE_000110 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
+/. 8 c.917G<T r.spl? p.(Arg306Met) Parent #1 - pathogenic g.? - - - CHRNE_000110 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
?/. 1_12 c.? r.? p.? Parent #2 - VUS g.? - - - MYH2_000008 unknown variant 2nd chromosome - - - Germline - - - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
?/. 1_12 c.? r.? p.? Parent #2 - VUS g.? - - - MYH2_000008 unknown variant 2nd chromosome - - - Germline - - - - - DNA SEQ - - CMS - - father no clinical or electrophysiological signs of CMS - - Germany - - - - - 1 Angela Abicht
?/. 1_12 c.? r.? p.? Parent #2 - VUS g.? - - - MYH2_000008 unknown variant 2nd chromosome - - - Germline - - - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
-?/. - c.6A>G r.(?) p.(Ala2=) Unknown - likely benign g.4806353T>C - CHRNE(NM_000080.4):c.6A>G (p.A2=) - C17orf107_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.16C>G r.(?) p.(Leu6Val) Parent #1 - VUS g.4806343G>C g.4903048G>C - - CHRNE_000135 alamut: benign - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/. 1 c.23T>A r.(?) p.(Val8Asp) Paternal (inferred) - pathogenic g.4806336A>T g.4903041A>T V-13D - CHRNE_000025 - PubMed: Middleton 1999 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Middleton 1999 - - yes Jordan - - - - - 1 Johan den Dunnen
+/. 1 c.23T>A r.(?) p.(Val8Asp) Maternal (inferred) - pathogenic g.4806336A>T g.4903041A>T V-13D - CHRNE_000025 - PubMed: Middleton 1999 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Middleton 1999 - - yes Jordan - - - - - 1 Johan den Dunnen
+/. 1 c.26T>G r.(?) p.(Leu9Arg) Parent #1 - pathogenic g.4806333A>C g.4903038A>C - - CHRNE_000078 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Portugal - - - - - 1 Angela Abicht
+/. 1 c.26T>G r.(?) p.(Leu9Arg) Parent #2 - pathogenic g.4806333A>C g.4903038A>C - - CHRNE_000078 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Portugal - - - - - 1 Angela Abicht
+/. 1 c.37G>A r.(?) p.Gly13Arg Unknown - NA g.4806322C>T g.4903027C>T - - CHRNE_000005 expression cloning human cDNA HEK293 cells; reduced expression CHRNE, 0.10 assembly with CHRNA PubMed: Ohno 1996 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.37G>A r.(?) p.(Gly13Arg) Unknown - pathogenic g.4806322C>T g.4903027C>T G-24A (G-8R) - CHRNE_000005 not in 84 CMS/200 control chromosomes; residue not conserved PubMed: Ohno 1996 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Ohno 1996 3-generation family, unaffected carrier parents/son F - Germany - - - - - 1 Johan den Dunnen
+/. 1 c.37G>A r.(?) p.(Gly13Arg) Paternal (confirmed) - pathogenic g.4806322C>T g.4903027C>T G-24A (G-8R) - CHRNE_000005 - PubMed: Ohno 1996 - - Germline - - - - - DNA PCR, SEQ, SSCA - - CMS - PubMed: Ohno 1996 - F - - - - - - - 1 Johan den Dunnen
+/. 1 c.37G>A r.(?) p.(Gly13Arg) Parent #1 - pathogenic g.4806322C>T g.4903027C>T G-24A (G-8R) - CHRNE_000005 residue not conserved PubMed: Ohno 1996 - - Germline - - - - - DNA SEQ - - - - PubMed: Ohno 1996 unaffected carrier father and daugther - - Germany - - - - - 2 Johan den Dunnen
?/. - c.37G>A r.(?) p.(Gly13Arg) Parent #1 - VUS g.4806322C>T g.4903027C>T - - CHRNE_000005 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs372635387 Germline - 2/2765 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+?/. - c.37G>A r.(?) p.(Gly13Arg) Unknown - likely pathogenic g.4806322C>T - CHRNE(NM_000080.4):c.37G>A (p.(Gly13Arg)) - CHRNE_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.45C>T r.(?) p.(Leu15=) Unknown - benign g.4806314G>A g.4903019G>A CHRNE(NM_000080.3):c.45C>T (p.(Leu15=)) - CHRNE_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.45C>T r.(?) p.(Leu15=) Unknown - likely benign g.4806314G>A - CHRNE(NM_000080.3):c.45C>T (p.(Leu15=)) - CHRNE_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.53G>T r.(?) p.(Gly18Val) Unknown - benign g.4806052C>A g.4902757C>A CHRNE(NM_000080.3):c.53G>T (p.(Gly18Val)) - C17orf107_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.53G>T r.53g>u p.Gly18Val Unknown - benign g.4806052C>A g.4902757C>A G-8T (G-3V) - CHRNE_000092 - PubMed: Engel 1996 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Engel 1996 3-generation family, affected girl F - United States - >19y - - - 1 Johan den Dunnen
-/. 2 c.53G>T r.(?) p.(Gly18Val) Maternal (confirmed) - benign g.4806052C>A g.4902757C>A G-8T (G-3V) - CHRNE_000092 - PubMed: Ohno 1996 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Ohno 1996 3-generation family, unaffected carrier parents/son F - Germany - - - - - 1 Johan den Dunnen
-/. 2 c.53G>T r.(?) p.(Gly18Val) Parent #1 - benign g.4806052C>A g.4902757C>A G-8T (G-3V) - CHRNE_000092 - PubMed: Ohno 1996 - - Germline - - - - - DNA SEQ, SSCA - - - - PubMed: Ohno 1996, OMIM:var0003 unaffected carrier mother and son - - Germany - - - - - 2 Johan den Dunnen
-/. 2 c.53G>T r.53g>u p.Gly18Val Unknown - benign g.4806052C>A g.4902757C>A G-8T (G-3V) - CHRNE_000092 control chromosomes PubMed: Engel 1996 - - Germline - 6/252 - - - DNA, RNA SEQ - - - - PubMed: Engel 1996 - - - United States - - - - - 6 Johan den Dunnen
-?/. - c.53G>T r.(?) p.(Gly18Val) Unknown - likely benign g.4806052C>A g.4902757C>A CHRNE(NM_000080.3):c.53G>T (p.(Gly18Val)) - C17orf107_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.53G>T r.(?) p.(Gly18Val) Parent #1 - likely benign g.4806052C>A g.4902757C>A - - C17orf107_000002 47 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs4790235 Germline - 47/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 47 Mohammed Faruq
?/. - c.70G>A r.(?) p.(Glu24Lys) Parent #1 - VUS g.4806035C>T g.4902740C>T - - CHRNE_000134 path. - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/. 2 c.92T>C r.(?) p.(Leu31Pro) Parent #1 - pathogenic g.4806013A>G g.4902718A>G - - CHRNE_000093 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Brazil - - - - - 1 Angela Abicht
+/. 2 c.92T>C r.(?) p.(Leu31Pro) Parent #2 - pathogenic g.4806013A>G g.4902718A>G - - CHRNE_000093 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Brazil - - - - - 1 Angela Abicht
+/. 2 c.103T>C r.(?) p.(Tyr35His) Parent #1 - pathogenic g.4806002A>G g.4902707A>G Y15H - CHRNE_000037 - PubMed: Ealing 2002 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Ealing 2002 - M no Netherlands - - - - - 1 Johan den Dunnen
+/. - c.103T>C r.(?) p.(Tyr35His) Unknown - pathogenic g.4806002A>G - CHRNE(NM_000080.3):c.103T>C (p.(Tyr35His)) - CHRNE_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.105T>A r.(?) p.(Tyr35*) Parent #1 - pathogenic g.4806000A>T g.4902705A>T Y15X - CHRNE_000034 - PubMed: Croxen 2002 - - Germline - - - - - DNA SEQ, SSCA - - CMS - PubMed: Croxen 2002 - F no - - - - - - 1 Johan den Dunnen
+/. 2 c.105T>A r.(?) p.(Tyr35*) Parent #1 - pathogenic g.4806000A>T g.4902705A>T Y15X - CHRNE_000034 - PubMed: Croxen 2002 - - Germline - - - - - DNA SEQ, SSCA - - CMS - PubMed: Croxen 2002 Sister of patient I (#20707) Despite both sisters carry the same ε-subunit alleles, only patient II developed detectable AChR antibodies. F yes - - - - - - 1 Johan den Dunnen
+/. 2 c.115_119dup r.(?) p.(Pro41Alafs*19) Paternal (inferred) - pathogenic g.4805986_4805990dup g.4902691_4902695dup 115_119dupAGCCG - CHRNE_000019 - PubMed: Ohno 1998 - - Germline - - MwoI - - DNA SEQ - - CMS - PubMed: Ohno 1998 - F yes Turkey - - - - - 1 Johan den Dunnen
+/. 2 c.115_119dup r.(?) p.(Pro41Alafs*19) Maternal (inferred) - pathogenic g.4805986_4805990dup g.4902691_4902695dup 115_119dupAGCCG - CHRNE_000019 - PubMed: Ohno 1998 - - Germline - - MwoI - - DNA SEQ - - CMS - PubMed: Ohno 1998 - F yes Turkey - - - - - 1 Johan den Dunnen
+/. 2 c.118C>T r.(?) p.(Arg40Trp) Unknown - pathogenic g.4805987G>A g.4902692G>A - - CHRNE_000058 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.126dup r.(?) p.(Glu44Glyfs*3) Paternal (inferred) - pathogenic g.4805979dup g.4902684dup 70insG - CHRNE_000021 - PubMed: Ohno 1998 - - Germline - - BdI - - DNA PCR, SEQ - - CMS - PubMed: Ohno 1998 - F yes Turkey - - - - - 1 Johan den Dunnen
+/. 2 c.126dup r.(?) p.(Glu44Glyfs*3) Maternal (inferred) - pathogenic g.4805979dup g.4902684dup 70insG - CHRNE_000021 - PubMed: Ohno 1998 - - Germline - - BdI - - DNA PCR, SEQ - - CMS - PubMed: Ohno 1998 - F yes Turkey - - - - - 1 Johan den Dunnen
?/. 2 c.126dup r.(?) p.(Glu44Glyfs*3) Parent #2 - VUS g.4805979dup g.4902684dup 70insG - CHRNE_000021 - PubMed: Croxen 2002 - - Germline - - BdI - - DNA SEQ, SSCA - - CMS - PubMed: Croxen 2002 - F no - - - - - - 1 Johan den Dunnen
+/. 2 c.126dup r.(?) p.(?) Unknown - pathogenic g.4805979dup g.4902684dup 126dupG - CHRNE_000061 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.126dup r.(?) p.(Glu44Glyfs*3) Maternal (inferred) - pathogenic g.4805979dup g.4902684dup 70insG - CHRNE_000021 - PubMed: Ohno 1998 - - Germline - - BdI - - DNA SEQ - - CMS - PubMed: Ohno 1998 - F no Turkey - - - - - 1 Johan den Dunnen
+/. 2 c.126dup r.(?) p.(Glu44Glyfs*3) Parent #1 - pathogenic g.4805979dup g.4902684dup 130dupG - CHRNE_000021 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
+/. 2 c.126dup r.(?) p.(Glu44Glyfs*3) Parent #2 - pathogenic g.4805979dup g.4902684dup 130dupG - CHRNE_000021 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
+/. 2 c.126dup r.(?) p.(Glu44Glyfs*3) Parent #2 - pathogenic g.4805979dup g.4902684dup 130dupG - CHRNE_000021 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Brazil - - - - - 1 Angela Abicht
+/. 2 c.126dup r.(?) p.(Glu44Glyfs*3) Parent #2 - pathogenic g.4805979dup g.4902684dup 130dupG - CHRNE_000021 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Portugal - - - - - 1 Angela Abicht
+/. 2 c.126dup r.(?) p.(Glu44Glyfs*3) Parent #2 - pathogenic g.4805979dup g.4902684dup 130dupG - CHRNE_000021 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Chile - - - - - 1 Angela Abicht
+/. 2 c.126dup r.(?) p.(Glu44Glyfs*3) Parent #2 - pathogenic g.4805979dup g.4902684dup 130dupG - CHRNE_000021 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
?/. 2 c.126dup r.(?) p.(Glu44Glyfs*3) Parent #2 - VUS g.4805979dup g.4902684dup 70insG - CHRNE_000021 - PubMed: Croxen 2002 - - Germline - - - - - DNA SEQ, SSCA - - CMS - PubMed: Croxen 2002 Sister of patient I (#20707) Despite both sisters carry the same ε-subunit alleles, only patient II developed detectable AChR antibodies. F yes - - - - - - 1 Johan den Dunnen
+/. - c.130dup r.(?) p.(Glu44Glyfs*3) Unknown - pathogenic g.4805977dup g.4902682dup - - CHRNE_000169 - Ohno et al. 1998. Ann Neurol 44: 234 - rs762368691 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+/. 2 c.158_161dup r.(?) p.(Lys34Asnfs*13) Parent #1 - pathogenic g.4805944_4805947dup g.4902649_4902652dup - - CHRNE_000091 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Iran - - - - - 1 Angela Abicht
+/. 2 c.158_161dup r.(?) p.(Lys34Asnfs*13) Parent #2 - pathogenic g.4805944_4805947dup g.4902649_4902652dup - - CHRNE_000091 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Iran - - - - - 1 Angela Abicht
+/. 2 c.183_187dup r.183_187dup p.Leu63Profs*3 Maternal (confirmed) - pathogenic g.4805918_4805922dup g.4902623_4902627dup 127ins5 - CHRNE_000010 not in 100 control chromosomes PubMed: Ohno 1997 - - Germline - - BslI- - - DNA SEQ - - CMS - PubMed: Ohno 1997 3-generation family, affected brother/sister - - - - - - - - 2 Johan den Dunnen
+/. 2 c.183_187dup r.(?) p.(Leu63Profs*3) Parent #1 - pathogenic g.4805918_4805922dup g.4902623_4902627dup - - CHRNE_000010 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
+/. 2 c.183_187dup r.183_187dup p.Leu63Profs*3 Paternal (inferred) - pathogenic g.4805918_4805922dup g.4902623_4902627dup 127ins5 - CHRNE_000010 not in 100 control chromosomes PubMed: Ohno 1997 - - Germline - - BslI- - - DNA SEQ - - - - PubMed: Ohno 1997 3-generation family, unaffected carrier mother F no - - - - - - 1 Johan den Dunnen
+/. 2 c.183_187dup r.(?) p.(Leu63ProfsTer3) Both (homozygous) - pathogenic g.4805918_4805922dup g.4902623_4902627dup - - CHRNE_000010 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-3056 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. 2 c.183_187dup r.(?) p.(Leu63ProfsTer3) Both (homozygous) - pathogenic g.4805918_4805922dup g.4902623_4902627dup - - CHRNE_000010 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-5167 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. - c.209_210del r.(?) p.(Leu70Hisfs*3) Both (homozygous) - pathogenic g.4805772_4805773del g.4902477_4902478del - - CHRNE_000133 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+/. 3 c.211A>C r.(?) p.(Thr71Pro) Paternal (confirmed) - pathogenic g.4805768T>G g.4902473T>G T51P - CHRNE_000024 - PubMed: Middleton 1999 - - Germline - - HphI - - DNA SEQ - - CMS - PubMed: Middleton 1999 2-generation family, 1 affected M yes Turkey - - - - - 1 Johan den Dunnen
+/. 3 c.211A>C r.(?) p.(Thr71Pro) Maternal (confirmed) - pathogenic g.4805768T>G g.4902473T>G T51P - CHRNE_000024 - PubMed: Middleton 1999 - - Germline - - HphI - - DNA SEQ - - CMS - PubMed: Middleton 1999 2-generation family, 1 affected M yes Turkey - - - - - 1 Johan den Dunnen
+/. 3 c.211A>C r.(?) p.(Thr71Pro) Parent #1 - pathogenic g.4805768T>G g.4902473T>G T51P - CHRNE_000024 - PubMed: Middleton 1999 - - Germline - - HphI - - DNA SEQ - - - - PubMed: Middleton 1999 2-generation family, unaffected carrier parents/sister - yes Turkey - - - - - 3 Johan den Dunnen
?/. - c.221T>G r.(?) p.(Val74Gly) Unknown - VUS g.4805758A>C g.4902463A>C - - C17orf107_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3i c.234+54C>A r.(?) p.(=) Maternal (confirmed) - benign g.4805691G>T g.4902396G>T IVS3+54C>A - CHRNE_000094 - PubMed: Abicht 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CMS - PubMed: Abicht 2002 2-generation family, unaffected parents/6 siblings M - Germany - >36y - - - 1 Angela Abicht
-/. 3i c.234+54C>A r.(?) p.(=) Parent #1 - benign g.4805691G>T g.4902396G>T IVS3+54C>A - CHRNE_000094 - PubMed: Abicht 2002 - - Germline - - - - - DNA SEQ - - - - PubMed: Abicht 2002 unaffected carrier mother, sister F - Germany - - - - - 2 Angela Abicht
+/. 4 c.250C>T r.(?) p.(Arg84*) Maternal (confirmed) - pathogenic g.4805606G>A g.4902311G>A C190T (R64X) - CHRNE_000011 not in 100 control chromosomes PubMed: Ohno 1997, OMIM:var0004 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Ohno 1997 2-generation family, 2 affected brothers M - - - - - - - 2 Johan den Dunnen
+/. 4 c.250C>T r.(?) p.(Arg84*) Paternal (inferred) - pathogenic g.4805606G>A g.4902311G>A R64X - CHRNE_000011 - PubMed: Sieb 2000 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Sieb 2000 - F - - white - - - - 1 Johan den Dunnen
+/. 4 c.250C>T r.(?) p.(Arg84*) Parent #1 - pathogenic g.4805606G>A g.4902311G>A C190T (R64X) - CHRNE_000011 not in 100 control chromosomes PubMed: Ohno 1997, OMIM:var0004 - - Germline - - - - - DNA SEQ - - - - PubMed: Ohno 1997, OMIM:var0004 2-generation family, unaffected carrier mother M no - - - - - - 1 Johan den Dunnen
+/. 4 c.293T>C r.(?) p.(Leu98Pro) Parent #1 - pathogenic g.4805563A>G g.4902268A>G L78P (233 T>C) - CHRNE_000001 - PubMed: Croxen 2002 a - rs28929768 Germline - - - - - DNA SEQ - - CMS - PubMed: Croxen 2002 a - F yes Bangladesh - - - - - 1 Johan den Dunnen
+/. 4 c.293T>C r.(?) p.(Leu98Pro) Parent #2 - pathogenic g.4805563A>G g.4902268A>G L78P (233 T>C) - CHRNE_000001 - PubMed: Croxen 2002 a - rs28929768 Germline - - - - - DNA SEQ - - CMS - PubMed: Croxen 2002 a - F yes Bangladesh - - - - - 1 Johan den Dunnen
+/. - c.337G>T r.(?) p.(Glu113*) Unknown ACMG pathogenic g.4805519C>A g.4902224C>A - - CHRNE_000170 ACMG grading: PVS1,PM2,PM3 - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+/. 4i c.344+1G>A r.(?) p.(=) Maternal (inferred) - pathogenic g.4805511C>T g.4902216C>T IVS4+1G>A - CHRNE_000121 - PubMed: Sieb 2000 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Sieb 1997 Brother and sister affected - - Italy - - - - - 2 Johan den Dunnen
?/. - c.344+18C>T r.(=) p.(=) Parent #1 - VUS g.4805494G>A g.4902199G>A - - CHRNE_000132 - - - - Germline - - - - - DNA SEQ - - MEOAL;MMDS8 - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.344+18C>T r.(=) p.(=) Unknown - likely benign g.4805494G>A - CHRNE(NM_000080.4):c.344+18C>T - CHRNE_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.345-7C>T r.(=) p.(=) Unknown - benign g.4805389G>A g.4902094G>A - - C17orf107_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4i c.345-2A>C r.spl p.? Parent #2 - pathogenic (recessive) g.4805384T>G g.4902089T>G eIVS4-2A>C - CHRNE_000171 - PubMed: Ohno 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CMS FamPat9 PubMed: Ohno 2003 - - - United States - - - - - 1 Johan den Dunnen
+/. 5 c.355C>T r.(?) p.(Gln119*) Parent #1 - pathogenic g.4805372G>A g.4902077G>A - - CHRNE_000096 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Algeria - - - - - 1 Angela Abicht
+/. 5 c.355C>T r.(?) p.(Gln119*) Parent #2 - pathogenic g.4805372G>A g.4902077G>A - - CHRNE_000096 - - - - Germline - - - - - DNA SEQ - - CMS - - - - - Algeria - - - - - 1 Angela Abicht
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