Full data view for gene SEPN1

NOTE: gene symbol was recently changed from SEPN1 to SELENON. This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_020451.2 transcript reference sequence.

604 entries on 7 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 c.-42T>C r.(?) p.(=) Parent #1 - benign g.26126680T>C g.25800189T>C - - SEPN1_000102 also found in controls - - rs12121707 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. 1 c.-42T>C r.(?) p.(=) Unknown - benign g.26126680T>C g.25800189T>C - - SEPN1_000102 - from website {DBsub-Emory} - - Unknown - - - - - DNA SEQ - - ? Emory-? from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
-/. - c.-42T>C r.(?) p.(=) Unknown - benign g.26126680T>C g.25800189T>C - - SEPN1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.-30_64del r.(?) p.? Maternal (inferred) - pathogenic (recessive) g.26126692_26126785del g.25800201_25800294del 1-34_60del94 - SEPN1_000074 - - - - Germline - - - - - DNA SEQ - - RSMD ? - - M - United Kingdom (Great Britain) - - - - - 1 Shu Yau
+/. 1 c.-30_64del r.(?) p.? Paternal (inferred) - pathogenic (recessive) g.26126692_26126785del g.25800201_25800294del 1-34_60del94 - SEPN1_000074 - - - - Germline - - - - - DNA SEQ - - RSMD ? - - M - United Kingdom (Great Britain) - - - - - 1 Shu Yau
+/. 1 c.-30_64del r.(?) p.0? Unknown - pathogenic g.26126692_26126785del g.25800201_25800294del - - SEPN1_000074 - - - - Unknown - - - - - DNA PCR, SEQ - - MYOP ? - - - - Sweden - - - - - 1 Tom Winder
-/. 1 c.-22_72del r.(?) p.0? Parent #2 - benign g.26126700_26126793del g.25800209_25800302del 1-25_69del - SEPN1_000050 - PubMed: Maiti 2009 - - Germline - - - - - DNA SEQ - - RSMD ? PubMed: Maiti 2009 sister died of similar symptoms F - - - 5y6m - - - 1 Johan den Dunnen
+?/. 1 c.-22_72del r.(?) p.0? Unknown - likely pathogenic (recessive) g.26126700_26126793del g.25800209_25800302del -25_69del - SEPN1_000050 combination of variants not reported PubMed: Villar-Quiles 2020 - - Germline - 1/132 cases - - - DNA SEQ - - MYOP - PubMed: Villar-Quiles 2020 analysis 132 patients with SEPN1-related myopathy - - - - - - - - 1 Johan den Dunnen
?/. 1 c.-14_-5dup r.(?) p.(=) Unknown - VUS g.26126708_26126717dup g.25800217_25800226dup -14_-5dup10 - SEPN1_000037 - - - - Germline - - - - - DNA SEQ - - MYOP ? - - - - United States - - - - - 1 Tom Winder
?/. 1 c.-12C>G r.(?) p.(=) Maternal (inferred) - VUS g.26126710C>G g.25800219C>G - - SEPN1_000077 - - - - Germline - - - - - DNA SEQ - - RSMD ? - - F - United Kingdom (Great Britain) - - - - - 1 Shu Yau
?/. 1 c.-12C>G r.(?) p.(=) Paternal (inferred) - VUS g.26126710C>G g.25800219C>G - - SEPN1_000077 - - - - Germline - - - - - DNA SEQ - - RSMD ? - - F - United Kingdom (Great Britain) - - - - - 1 Shu Yau
+/. 1 c.-11_81del r.(?) p.0? Parent #1 - pathogenic (recessive) g.26126711_26126802del g.25800220_25800311del -19_73del - SEPN1_000001 - PubMed: Clarke 2006 - - Germline - - - - - DNA SEQ - - ? 16365872.C6 PubMed: Clarke 2006 - M - Australia - - - - - 1 Johan den Dunnen
+/. 1 c.-11_81del r.(?) p.0? Both (homozygous) - pathogenic (recessive) g.26126711_26126802del g.25800220_25800311del -19_73del - SEPN1_000001 linked to 1p36 PubMed: Ferreiro 2004 - - Germline - - - - - DNA SSCA, SEQ - - MYOP FamII PubMed: Ferreiro 2004 11-generation family, 4 affected (2F, 2M), distant relatives, genetic isolate F;M yes Germany - - - - - 4 Johan den Dunnen
+/. 1 c.-11_81del r.(?) p.0? Parent #1 - pathogenic (recessive) g.26126711_26126802del g.25800220_25800311del -11_81del92 - SEPN1_000001 - - - - Germline - - - - - DNA PCR, SEQ - - RSMD ? - - F - United States - - - - - 1 Tom Winder
+/. 1 c.-11_81del r.(?) p.0? Unknown - pathogenic g.26126711_26126802del g.25800220_25800311del 1-11_81del92 - SEPN1_000001 - - - - Germline - - - - - DNA SEQ - - RSMD ? - affected brother with same genotype F - United Kingdom (Great Britain) - - - - - 1 Shu Yau
+?/. 1 c.-11_81del r.(?) p.0? Unknown - likely pathogenic (recessive) g.26126711_26126802del g.25800220_25800311del -19_73del - SEPN1_000001 combination of variants not reported PubMed: Villar-Quiles 2020 - - Germline - 11/132 cases - - - DNA SEQ - - MYOP - PubMed: Villar-Quiles 2020 analysis 132 patients with SEPN1-related myopathy - - - - - - - - 10 Johan den Dunnen
+?/. - c.-11_81del r.(?) p.? Both (homozygous) ACMG pathogenic (recessive) g.26126711_26126802del g.25800220_25800311del - - SEPN1_000001 - PubMed: Lin 2023, Journal: Lin 2023 - - Germline ? - - - - DNA SEQ-NG-I - Exome sequencing MYOP Fam11PatII4 PubMed: Lin 2023, Journal: Lin 2023 2-generation family, affected twin pair F, M), unaffected parents F yes Egypt - - - - - 1 Barbara Vona
+?/. 1 c.-10_135del r.(?) p.0? Parent #2 - likely pathogenic g.26126712_26126856del g.25800221_25800365del - - SEPN1_000101 deletion of the terminal 10 nucleotides of the 5' UTR and the first 135 nucleotides of exon 1 - - - Germline - - - - - DNA PCR, SEQ - - RSMD ? - - - - United States - - - - - 1 Tom Winder
-/- 1_13 c.= r.= p.= Unknown - benign g.? - - - SEPN1_000000 no variants 2nd chromosome - - - Germline - - - - - DNA SEQ - - ? 18348272.1 PubMed: Zirn 2008 - F - Turkey - >7y - - - 1 Johan den Dunnen
-/- 1_13 c.= r.= p.= Unknown - benign g.? - - - SEPN1_000000 no variants 2nd chromosome - - - Germline - - - - - DNA SEQ - - - ? - - M;F - Turkey - - - - - 3 Johan den Dunnen
+/. 1 c.1A>G r.(?) p.0? Parent #2 - pathogenic (recessive) g.26126722A>G g.25800231A>G - - SEPN1_000002 - PubMed: Clarke 2006 - rs121908184 Germline - - - - - DNA SEQ - - ? 16365872.C6 PubMed: Clarke 2006 - M - Australia - - - - - 1 Johan den Dunnen
+/. 1 c.1A>G r.(?) p.0? Both (homozygous) - pathogenic (recessive) g.26126722A>G g.25800231A>G - - SEPN1_000002 mRNA level near normal PubMed: Ferreiro 2002, OMIM:var0003, PubMed: Allamand 2006 - rs121908184 Germline - - - - - DNA SSCA, SEQ - - RSMD F2a PubMed: Ferreiro 2002 2-genertion family, 2 affected sisters M ? Italy - - - - - 2 Johan den Dunnen
+/. 1 c.1A>G r.(?) p.0? Both (homozygous) - pathogenic (recessive) g.26126722A>G g.25800231A>G - - SEPN1_000002 - PubMed: Ferreiro 2002, OMIM:var0003, PubMed: Allamand 2006 - rs121908184 Germline - - - - - DNA SSCA, SEQ - - RSMD F2b PubMed: Ferreiro 2002 sister F2a F ? Italy - - - - - 1 Johan den Dunnen
+/. 1 c.1A>G r.(?) p.0? Both (homozygous) - pathogenic (recessive) g.26126722A>G g.25800231A>G - - SEPN1_000002 - PubMed: Ferreiro 2002, OMIM:var0003, PubMed: Allamand 2006 - rs121908184 Germline - - - - - DNA SSCA, SEQ - - RSMD F3 PubMed: Ferreiro 2002 - M ? Belgium - - - - - 1 Johan den Dunnen
+/. 1 c.1A>G r.(?) p.0? Both (homozygous) - pathogenic (recessive) g.26126722A>G g.25800231A>G - - SEPN1_000002 - PubMed: Ferreiro 2002, OMIM:var0003, PubMed: Allamand 2006 - rs121908184 Germline - - - - - DNA SSCA, SEQ - - RSMD F4 PubMed: Ferreiro 2002 - M ? Germany - - - - - 1 Johan den Dunnen
+/. 1 c.1A>G r.(?) p.0? Maternal (confirmed) - pathogenic g.26126722A>G g.25800231A>G - - SEPN1_000002 - - - rs121908184 Germline - - - - - DNA SEQ - - RSMD ? - - F - Switzerland - - - - - 1 Shu Yau
+/. 1 c.1A>G r.(?) p.0? Unknown - pathogenic g.26126722A>G g.25800231A>G - - SEPN1_000002 - - - rs121908184 Germline - - - - - DNA SEQ - - RSMD ? - - M - United States - - - - - 1 Tom Winder
-/. 1 c.1A>G r.(?) p.0? Parent #1 - benign g.26126722A>G g.25800231A>G - - SEPN1_000002 - PubMed: Maiti 2009 - rs121908184 Germline - - - - - DNA SEQ - - RSMD ? PubMed: Maiti 2009 - ? - - - - - - - 1 Johan den Dunnen
-/. 1 c.1A>G r.(?) p.0? Parent #2 - benign g.26126722A>G g.25800231A>G - - SEPN1_000002 - PubMed: Maiti 2009 - rs121908184 Germline - - - - - DNA SEQ - - RSMD ? PubMed: Maiti 2009 - ? - - - - - - - 1 Johan den Dunnen
+?/. 1 c.1A>G r.(?) p.0? Unknown - likely pathogenic g.26126722A>G g.25800231A>G - - SEPN1_000002 - - - rs121908184 Germline - - - - - DNA SEQ - - CMYO4A;CFTD ? - - F - (United States) - - - - - 1 Tom Winder
+/. 1 c.1A>G r.(?) p.0? Parent #1 - pathogenic g.26126722A>G g.25800231A>G (Met1Val) - SEPN1_000002 - - - rs121908184 Germline - - - - - DNA PCR, SEQ - - RSMD ? - - - - United States - - - - - 1 Tom Winder
+/. 1 c.1A>G r.(?) p.(0?) Maternal (confirmed) - pathogenic g.26126722A>G g.25800231A>G Met1Val - SEPN1_000002 - - - rs121908184 Germline - - - - - DNA SEQ - - RSMD ? - - M - Germany German - - - - 1 Wolfram Kress
+/. 1 c.1A>G r.(?) p.(Met1Val) Parent #1 - pathogenic g.26126722A>G g.25800231A>G M1V - SEPN1_000002 - - - rs121908184 Germline - - - - - DNA SEQ - - ? ? - - F - - - - - - - 1 Lab Müller-Reible
+/. 1 c.1A>G r.(?) p.(Met1Val) Parent #1 - pathogenic g.26126722A>G g.25800231A>G M1V - SEPN1_000002 - - - rs121908184 Germline - - - - - DNA SEQ - - ? ? - - M - - - - - - - 1 Lab Müller-Reible
+/. 1 c.1A>G r.(?) p.0? Parent #1 - pathogenic (recessive) g.26126722A>G g.25800231A>G (Met1Val) - SEPN1_000002 - - - rs121908184 Germline - - - - - DNA PCR, SEQ - - RSMD ? - - M - United States - - - - - 1 Tom Winder
+/. 1 c.1A>G r.(?) p.0? Unknown - pathogenic g.26126722A>G g.25800231A>G - - SEPN1_000002 - - - rs121908184 Germline - - - - - DNA SEQ - - RSMD ? - - F - United Kingdom (Great Britain) - - - - - 1 Shu Yau
+/. 1 c.1A>G r.(?) p.0? Unknown - pathogenic g.26126722A>G g.25800231A>G - - SEPN1_000002 - - - rs121908184 Germline - - - - - DNA SEQ - - RSMD ? - - M - Switzerland - - - - - 1 Shu Yau
+/. - c.1A>G r.(?) p.(Met1?) Unknown - pathogenic g.26126722A>G g.25800231A>G - - SEPN1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.1A>G r.(?) p.0? Unknown - likely pathogenic (recessive) g.26126722A>G g.25800231A>G - - SEPN1_000002 combination of variants not reported PubMed: Villar-Quiles 2020 - rs121908184 Germline - 20/132 cases - - - DNA SEQ - - MYOP - PubMed: Villar-Quiles 2020 analysis 132 patients with SEPN1-related myopathy - - - - - - - - 16 Johan den Dunnen
+/. - c.1A>G r.(?) p.(Met1?) Unknown - pathogenic g.26126722A>G - - - SEPN1_000002 - - - rs121908184 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1A>G r.(?) p.(Met1?) Both (homozygous) ACMG pathogenic (recessive) g.26126722A>G g.25800231A>G - - SEPN1_000002 - PubMed: Bouman 2023 - - Germline - - - - - DNA SEQ - - NMD Pat5 PubMed: Bouman 2023 - F - - - - - - - 1 Johan den Dunnen
+/. 1 c.2dup r.2dup p.0? Paternal (confirmed) - pathogenic (recessive) g.26126723dup g.25800232dup 1_2insT - SEPN1_000004 mRNA level 0.6-0.7; potential secondary translation initiation PubMed: Okamoto 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - RSMD Pat1 PubMed: Okamoto 2006 first cousin parents M - Japan - >41y - - - 1 Johan den Dunnen
+/. 1 c.2dup r.2dup p.0? Maternal (confirmed) - pathogenic (recessive) g.26126723dup g.25800232dup 1_2insT - SEPN1_000004 mRNA level 0.6-0.7; potential secondary translation initiation PubMed: Okamoto 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - RSMD Pat1 PubMed: Okamoto 2006 first cousin parents M - Japan - >41y - - - 1 Johan den Dunnen
+/. 1 c.2dup r.(?) p.0? Unknown - pathogenic g.26126723dup g.25800232dup 1_2insT - SEPN1_000004 - PubMed: Okamoto 2006 - - Germline - 0/100 - - - DNA SEQ - - - ? PubMed: Okamoto 2006 - ? - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.2T>G r.(?) p.0? Paternal (inferred) - pathogenic (recessive) g.26126723T>G g.25800232T>G (Met1Val) - SEPN1_000073 - - - - Germline - - - - - DNA PCR, SEQ - - RSMD ? - - F - United States Arab - - - - 1 Tom Winder
+/. 1 c.2T>G r.(?) p.0? Maternal (inferred) - pathogenic (recessive) g.26126723T>G g.25800232T>G (Met1Val) - SEPN1_000073 - - - - Germline - - - - - DNA PCR, SEQ - - RSMD ? - - F - United States Arab - - - - 1 Tom Winder
+?/. 1 c.8_12dup r.(?) p.(Gln8Argfs*60) Unknown - likely pathogenic (recessive) g.26126729_26126733dup g.25800238_25800242dup - - SEPN1_000153 combination of variants not reported PubMed: Villar-Quiles 2020 - - Germline - 1/132 cases - - - DNA SEQ - - MYOP - PubMed: Villar-Quiles 2020 analysis 132 patients with SEPN1-related myopathy - - - - - - - - 1 Johan den Dunnen
+?/. 1 c.9_33del r.(?) p.(Ala4Profs*54) Parent #1 - likely pathogenic g.26126730_26126754del g.25800239_25800263del 9_33del25 - SEPN1_000060 - - - - Germline - - - - - DNA PCR, SEQ - - ? ? - - - - United States - - - - - 1 Tom Winder
+/. 1 c.9_33del r.(?) p.(Ala4fs*54) Unknown - pathogenic g.26126730_26126754del g.25800239_25800263del 9_33del24 - SEPN1_000060 - - - - Germline - - - - - DNA SEQ - - RSMD ? - - M - United Kingdom (Great Britain) - - - - - 1 Shu Yau
+/. 1 c.9_33del r.(?) p.(Arg4Profs*54) Unknown - pathogenic g.26126730_26126754del g.25800239_25800263del 9_33del24 - SEPN1_000060 - - - - Germline - - - - - DNA SEQ - - RSMD ? - - F - United Kingdom (Great Britain) - - - - - 1 Shu Yau
+/. 1 c.13_22dup r.(?) p.(Gln8Profs*78) Both (homozygous) - pathogenic (recessive) g.26126734_26126743dup g.25800243_25800252dup 22dup10 - SEPN1_000003 - PubMed: Moghadaszadeh 2001 - - Germline - - - - - DNA SSCA, SEQ - - RSMD Fam1809 PubMed: Moghadaszadeh 2001 - ? - Morocco - - - - - 3 Johan den Dunnen
+/. 1 c.13_22dup r.(?) p.(Gln8Profs*78) Both (homozygous) - pathogenic (recessive) g.26126734_26126743dup g.25800243_25800252dup 22dup10 - SEPN1_000003 - PubMed: Moghadaszadeh 2001 - - Germline - - - - - DNA SSCA, SEQ - - RSMD Fam13369 PubMed: Moghadaszadeh 2001 - ? - Algeria - - - - - 1 Johan den Dunnen
+/. 1 c.13_22dup r.(?) p.(Gln8Profs*78) Both (homozygous) - pathogenic (recessive) g.26126734_26126743dup g.25800243_25800252dup 22dup10 - SEPN1_000003 - PubMed: Ferreiro 2002, PubMed: Allamand 2006 - - Germline - - - - - DNA SSCA, SEQ - - RSMD F1 PubMed: Ferreiro 2002 - M - Germany - - - - - 1 Johan den Dunnen
+/. 1 c.13_22dup r.(?) p.(Gln8Profs*78) Unknown - pathogenic g.26126734_26126743dup g.25800243_25800252dup - - SEPN1_000003 - - - - Germline - - - - - DNA SEQ - - RSMD ? - - M - United States - - - - - 1 Tom Winder
+/. 1 c.13_22dup r.(?) p.(Gln8Profs*78) Maternal (inferred) - pathogenic g.26126734_26126743dup g.25800243_25800252dup 13_22dup10 - SEPN1_000003 - - - - Germline - - - - - DNA SEQ - - RSMD ? - - M - United Kingdom (Great Britain) - - - - - 1 Shu Yau
+/. 1 c.13_22dup r.(?) p.(Gln8Profs*78) Paternal (inferred) - pathogenic g.26126734_26126743dup g.25800243_25800252dup 13_22dup10 - SEPN1_000003 - - - - Germline - - - - - DNA SEQ - - RSMD ? - - M - United Kingdom (Great Britain) - - - - - 1 Shu Yau
+/. 1 c.13_22dup r.(?) p.(Gln8Profs*78) Both (homozygous) - pathogenic (recessive) g.26126734_26126743dup g.25800243_25800252dup 12_21dup10 - SEPN1_000003 - PubMed: Schara 2008 - - Germline - - - - - DNA SEQ - - RSMD Pat5 PubMed: Schara 2008 - M - Germany - - - - - 1 Johan den Dunnen
+/. 1 c.13_22dup r.(?) p.(Gln8Profs*78) Parent #1 - pathogenic g.26126734_26126743dup g.25800243_25800252dup - - SEPN1_000003 - - - - Germline - - - - - DNA SEQ - - ? ? - - F - - - - - - - 1 Lab Müller-Reible
+/. 1 c.13_22dup r.(?) p.(Gln8Profs*78) Parent #2 - pathogenic g.26126734_26126743dup g.25800243_25800252dup - - SEPN1_000003 - - - - Germline - - - - - DNA SEQ - - ? ? - - F - - - - - - - 1 Lab Müller-Reible
+/. 1 c.13_22dup r.(?) p.(Gln8Profs*78) Parent #1 - pathogenic g.26126734_26126743dup g.25800243_25800252dup - - SEPN1_000003 - - - - Germline - - - - - DNA SEQ - - ? ? - - F - - - - - - - 1 Lab Müller-Reible
+/. 1 c.13_22dup r.(?) p.(Gln8Profs*78) Parent #2 - pathogenic g.26126734_26126743dup g.25800243_25800252dup - - SEPN1_000003 - - - - Germline - - - - - DNA SEQ - - ? ? - - F - - - - - - - 1 Lab Müller-Reible
+/. 1 c.13_22dup r.(?) p.(Gln8Profs*78) Parent #1 - pathogenic g.26126734_26126743dup g.25800243_25800252dup - - SEPN1_000003 - - - - Germline - - - - - DNA SEQ - - ? ? - - M - - - - - - - 1 Lab Müller-Reible
+/. 1 c.13_22dup r.(?) p.(Gln8Profs*78) Parent #2 - pathogenic g.26126734_26126743dup g.25800243_25800252dup - - SEPN1_000003 - - - - Germline - - - - - DNA SEQ - - ? ? - - M - - - - - - - 1 Lab Müller-Reible
+/. 1 c.13_22dup r.(?) p.(Gln8Profs*78) Maternal (inferred) - pathogenic (recessive) g.26126734_26126743dup g.25800243_25800252dup 13_22dup10 - SEPN1_000003 - - - - Germline - - - - - DNA SEQ - - RSMD ? - - F - United Kingdom (Great Britain) - - - - - 1 Shu Yau
+/. 1 c.13_22dup r.(?) p.(Gln8Profs*78) Paternal (inferred) - pathogenic (recessive) g.26126734_26126743dup g.25800243_25800252dup 13_22dup10 - SEPN1_000003 - - - - Germline - - - - - DNA SEQ - - RSMD ? - - F - United Kingdom (Great Britain) - - - - - 1 Shu Yau
+/. 1 c.13_22dup r.(?) p.(Gln8Profs*78) Unknown - pathogenic g.26126734_26126743dup g.25800243_25800252dup 13_22dupCGGCCGGGCC - SEPN1_000003 - from website {DBsub-Emory} - - Unknown - - - - - DNA SEQ - - ? Emory-? from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1 c.13_22dup r.(?) p.(Gln8Profs*78) Parent #1 - pathogenic g.26126734_26126743dup g.25800243_25800252dup - - SEPN1_000003 - - - - Germline - - - - - DNA PCR, SEQ - - RSMD ? - - M - United States - - - - - 1 Tom Winder
+/. 1 c.13_22dup r.(?) p.(Gln8Profs*78) Parent #1 - pathogenic g.26126734_26126743dup g.25800243_25800252dup - - SEPN1_000003 - - - - Germline - - - - - DNA PCR, SEQ - - RSMD ? - - M - United States - - - - - 1 Tom Winder
+?/. 1 c.13_22dup r.(?) p.(Gln8Profs*78) Unknown - likely pathogenic (recessive) g.26126734_26126743dup g.25800243_25800252dup 8_17dup - SEPN1_000003 combination of variants not reported PubMed: Villar-Quiles 2020 - rs970951421 Germline - 12/132 cases - - - DNA SEQ - - MYOP - PubMed: Villar-Quiles 2020 analysis 132 patients with SEPN1-related myopathy - - - - - - - - 8 Johan den Dunnen
+/. - c.13_22dup r.(?) p.(Gln8fs) Parent #2 ACMG pathogenic (recessive) g.26126734_26126743dup g.25800243_25800252dup - - SEPN1_000003 - PubMed: Bouman 2023 - - Germline - - - - - DNA SEQ - - NMD Pat9 PubMed: Bouman 2023 - M - - - - - - - 1 Johan den Dunnen
+/. 1 c.23_32dup r.(?) p.(Pro12Thrfs*75) Both (homozygous) - pathogenic (recessive) g.26126744_26126753dup g.25800253_25800262dup 23_32dup10 - SEPN1_000038 variant identical to 13_22dup10? PubMed: Clarke 2006 - - Germline - - - - - DNA SEQ - - RSMD 16365872.E8 PubMed: Clarke 2006 - F - Australia - - - - - 1 Johan den Dunnen
?/. 1 c.42C>T r.(?) p.(=) Unknown - VUS g.26126763C>T g.25800272C>T - - SEPN1_000036 - - - - Germline - - - - - DNA SEQ - - MYOP ? - - - - United States - - - - - 1 Tom Winder
?/. 1 c.42C>T r.(?) p.(=) Unknown - VUS g.26126763C>T g.25800272C>T - - SEPN1_000036 - from website {DBsub-Emory} - - Unknown - - - - - DNA SEQ - - ? Emory-? from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
-/. - c.42C>T r.(?) p.? Unknown - benign g.26126763C>T - - - SEPN1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.44_72dup r.(?) p.(Arg25Alafs*51) Unknown - pathogenic g.26126765_26126793dup g.25800274_25800302dup 44_72dup29 - SEPN1_000059 - - - - Germline - - - - - DNA SEQ - - MYOP ? - - - - (United States) - - - - - 1 Tom Winder
+?/. 1 c.44_72dup r.(?) p.(Arg25Alafs*51) Parent #2 - likely pathogenic g.26126765_26126793dup g.25800274_25800302dup 44_72dup29 - SEPN1_000059 - - - - Germline - - - - - DNA PCR, SEQ - - RSMD ? - - - - United States - - - - - 1 Tom Winder
+?/. 1 c.44_72dup r.(?) p.(Arg25Alafs*51) Unknown - likely pathogenic (recessive) g.26126765_26126793dup g.25800274_25800302dup - - SEPN1_000059 combination of variants not reported PubMed: Villar-Quiles 2020 - rs797044620 Germline - 2/132 cases - - - DNA SEQ - - MYOP - PubMed: Villar-Quiles 2020 analysis 132 patients with SEPN1-related myopathy - - - - - - - - 2 Johan den Dunnen
+/. 1 c.56_83dup r.(?) p.(Arg29Alafs*63) Maternal (confirmed) - pathogenic g.26126777_26126804dup g.25800286_25800313dup 56_83dup28 - SEPN1_000095 - - - - Germline - - - - - DNA SEQ - - RSMD ? - - M - United Kingdom (Great Britain) - - - - - 1 Shu Yau
+/. 1 c.60_79dup r.60_79dup p.Arg27Leufs*62 Paternal (confirmed) - pathogenic (recessive) g.26126781_26126800dup g.25800290_25800309dup - - SEPN1_000005 mRNA level 0.3; potential secondary translation initiation PubMed: Okamoto 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - RSMD Pat2 PubMed: Okamoto 2006 - F no Japan - >31y - - - 1 Johan den Dunnen
+/. 1 c.60_79dup r.60_79dup p.Arg27Leufs*62 Maternal (confirmed) - pathogenic (recessive) g.26126781_26126800dup g.25800290_25800309dup - - SEPN1_000005 mRNA level 0.3; potential secondary translation initiation PubMed: Okamoto 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - RSMD Pat2 PubMed: Okamoto 2006 - F no Japan - >31y - - - 1 Johan den Dunnen
+/. 1 c.60_79dup r.? p.Arg27Leufs*62 Unknown - pathogenic g.26126781_26126800dup g.25800290_25800309dup - - SEPN1_000005 - PubMed: Okamoto 2006 - - Germline - 0/100 - - - DNA SEQ - - - ? PubMed: Okamoto 2006 - ? - Japan - - - - - 1 Johan den Dunnen
+?/. 1 c.69_76dup r.(?) p.(Arg26Hisfs*43) Unknown - likely pathogenic (recessive) g.26126790_26126797dup g.25800299_25800306dup 66_73dup - SEPN1_000154 combination of variants not reported PubMed: Villar-Quiles 2020 - rs911937146 Germline - 2/132 cases - - - DNA SEQ - - MYOP - PubMed: Villar-Quiles 2020 analysis 132 patients with SEPN1-related myopathy - - - - - - - - 2 Johan den Dunnen
+?/. 1 c.77_84dup r.(?) p.(Arg29Alafs*40) Unknown - likely pathogenic (recessive) g.26126798_26126805dup g.25800307_25800314dup - - SEPN1_000155 combination of variants not reported PubMed: Villar-Quiles 2020 - - Germline - 2/132 cases - - - DNA SEQ - - MYOP - PubMed: Villar-Quiles 2020 analysis 132 patients with SEPN1-related myopathy - - - - - - - - 2 Johan den Dunnen
?/. 1 c.103G>C r.(?) p.(Gly35Arg) Unknown - VUS g.26126824G>C g.25800333G>C - - SEPN1_000093 - - - - Germline - - - - - DNA SEQ - - RSMD ? - - F - Saudi Arabia - - - - - 1 Shu Yau
?/. 1 c.103G>C r.(?) p.(Gly35Arg) Maternal (confirmed) - VUS g.26126824G>C g.25800333G>C - - SEPN1_000093 - - - - Germline - - - - - DNA SEQ - - RSMD ? - - M - United Kingdom (Great Britain) - - - - - 1 Shu Yau
+?/. 1 c.125_136dup r.(?) p.(Ala42_Ala45dup) Parent #1 - likely pathogenic g.26126846_26126857dup g.25800355_25800366dup - - SEPN1_000113 - - - - Germline - - - - - DNA PCR, SEQ - - MYOP ? - - - - El Salvador - - - - - 1 Tom Winder
+?/. 1 c.142del r.(?) p.(Val48Serfs*18) Unknown - likely pathogenic (recessive) g.26126863del g.25800372del - - SEPN1_000156 combination of variants not reported PubMed: Villar-Quiles 2020 - - Germline - 1/132 cases - - - DNA SEQ - - MYOP - PubMed: Villar-Quiles 2020 analysis 132 patients with SEPN1-related myopathy - - - - - - - - 1 Johan den Dunnen
+?/. 1 c.163dup r.(?) p.(Ala55Glyfs*28) Parent #1 - likely pathogenic g.26126884dup g.25800393dup 163dupG - SEPN1_000100 - - - - Germline - - - - - DNA PCR, SEQ - - RSMD ? - - - - United States - - - - - 1 Tom Winder
+/. 1 c.166C>T r.(?) p.(Gln56*) Maternal (inferred) - pathogenic (recessive) g.26126887C>T g.25800396C>T - - SEPN1_000080 - - - - Germline - - - - - DNA SEQ - - RSMD ? - - F - United Kingdom (Great Britain) - - - - - 1 Shu Yau
+/. 1 c.166C>T r.(?) p.(Gln56*) Paternal (inferred) - pathogenic (recessive) g.26126887C>T g.25800396C>T - - SEPN1_000080 - - - - Germline - - - - - DNA SEQ - - RSMD ? - - F - United Kingdom (Great Britain) - - - - - 1 Shu Yau
-/. - c.183+116G>A r.(=) p.(=) Unknown - benign g.26127020G>A - SELENON(NM_020451.3):c.183+116G>A - SEPN1_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.234del r.(?) p.? Parent #1 - likely pathogenic (recessive) g.26127584del g.25801093del 233delC - SEPN1_000144 no variant 2nd allele PubMed: Park 2017 - - Germline - 1/209 cases - - - DNA SEQ, SEQ-NG - 69-gene panel muscular disorder MD Pat55 PubMed: Park 2017 - M - Korea - - - - - 1 Johan den Dunnen
+?/. 2 c.249_250dup r.(?) p.(Asp84Glyfs*17) Parent #1 - likely pathogenic g.26127599_26127600dup g.25801108_25801109dup 249_250dupGG - SEPN1_000056 - - - - Germline - - - - - DNA SEQ - - RSMD ? - - - - Sri Lanka - - - - - 1 Tom Winder
+?/. 2 c.249_250dup r.(?) p.(Asp84Glyfs*17) Parent #2 - likely pathogenic g.26127599_26127600dup g.25801108_25801109dup 249_250dupGG - SEPN1_000056 - - - - Germline - - - - - DNA SEQ - - RSMD ? - - - - Sri Lanka - - - - - 1 Tom Winder
+?/. 2 c.249_250dup r.(?) p.(Asp84Glyfs*17) Unknown - likely pathogenic (recessive) g.26127599_26127600dup g.25801108_25801109dup - - SEPN1_000056 combination of variants not reported PubMed: Villar-Quiles 2020 - - Germline - 1/132 cases - - - DNA SEQ - - MYOP - PubMed: Villar-Quiles 2020 analysis 132 patients with SEPN1-related myopathy - - - - - - - - 1 Johan den Dunnen
+/. 2 c.249_250dup r.(?) p.(Asp84GlyfsTer17) Parent #1 - pathogenic g.26127599_26127600dup g.25801108_25801109dup c.249_250dupGG - SEPN1_000056 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-361 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. 2 c.253A>G r.(?) p.(Met85Val) Unknown - VUS g.26127603A>G g.25801112A>G - - SEPN1_000027 - - - - Germline - - - - - DNA SEQ - - ? ? - - M - United States - - - - - 1 Tom Winder
+?/. - c.272_273insCTGAT r.(?) p.(Glu91Aspfs*2) Unknown - likely pathogenic g.26127622_26127623insCTGAT g.25801131_25801132insCTGAT - - SEPN1_000151 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 2 Johan den Dunnen
+?/. 2 c.279dup r.(?) p.(Pro94Thrfs*4) Unknown - likely pathogenic (recessive) g.26127629dup g.25801138dup 277dupA - SEPN1_000157 combination of variants not reported PubMed: Villar-Quiles 2020 - - Germline - 1/132 cases - - - DNA SEQ - - MYOP - PubMed: Villar-Quiles 2020 analysis 132 patients with SEPN1-related myopathy - - - - - - - - 1 Johan den Dunnen
+?/. - c.301G>C r.spl? p.(?,Gly101Arg) Parent #2 ACMG likely pathogenic (recessive) g.26127651G>C g.25801160G>C - - SEPN1_000197 - PubMed: Bouman 2023 - - Germline - - - - - DNA SEQ - - NMD Pat8 PubMed: Bouman 2023 - M - - - - - - - 1 Johan den Dunnen
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