Full data view for gene CAPN3

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000070.2 transcript reference sequence.

82 entries on 1 page. Showing entries 1 - 82.
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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.1468C>T r.(?) p.(Arg490Trp) Unknown - pathogenic g.42693952C>T g.42401754C>T CAPN3(NM_000070.2):c.1468C>T (p.(Arg490Trp)), CAPN3(NM_000070.3):c.1468C>T (p.R490W) - CAPN3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1468C>T r.(?) p.(Arg490Trp) Unknown - pathogenic g.42693952C>T g.42401754C>T CAPN3(NM_000070.2):c.1468C>T (p.(Arg490Trp)), CAPN3(NM_000070.3):c.1468C>T (p.R490W) - CAPN3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - - - - Germline - - - - - DNA DHPLC - - LGMD - - - F - Germany - - - - - 1 Gabriele Dekomien
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #2 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - - - - Germline - - - - - DNA DHPLC - - LGMD - - - F - Germany - - - - - 1 Gabriele Dekomien
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Fanin 2004 + PubMed: Fanin 2003 + PubMed: Fanin 2005 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Fanin 2004 + PubMed: Fanin 2003 + PubMed: Fanin 2005 - M - Italy - >30y - - - 1 Marina Fanin
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Fanin 2005 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Fanin 2005 - - - Italy - - - - - 1 Marina Fanin
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 unknown variant 2nd allele PubMed: Fanin 2007 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Fanin 2007 - M - Italy - - - - - 1 Marina Fanin
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 not in 120 control chromosomes PubMed: Richard - - Germline - - - - - DNA HD, SEQ, SSCA - - LGMD 07720071-M2888 PubMed: Richard - - - France - - - - - 1 Johan den Dunnen
+/. 11 c.1468C>T r.1468c>u p.Arg490Trp Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Richard 1997 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD 09150160-US9351 PubMed: Richard 1997 2-generation family, 1 affected F no United States - - - - - 1 Johan den Dunnen
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - - - - Germline - - - - - DNA SSCA - - LGMD - - - M - Portugal - - - - - 1 Rosário dos Santos
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: de Paula - - Germline - - - - - DNA SSCA, DHPLC - - LGMD - PubMed: de Paula - M - Brazil white - - - - 1 Johan den Dunnen
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #2 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: de Paula - - Germline - - - - - DNA SSCA, DHPLC - - LGMD - PubMed: de Paula - M - Brazil - - - - - 5 Johan den Dunnen
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Fanin 2004 + PubMed: Fanin 2003 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Fanin 2004 + PubMed: Fanin 2003 - M - Slovenia - >25y - - - 1 Marina Fanin
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - - - - Germline - - - - - DNA DHPLC - - LGMD - - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 11 c.1468C>T r.1468c>u p.Arg490Trp Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - - - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD - - - M - Portugal - >44y - - - 1 Rosário dos Santos
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - - - - Germline - - - - - DNA SEQ - - LGMD - - - F - Germany - - - - - 1 Lab Müller-Reible
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - - - - Germline - - - - - DNA SEQ - - LGMD - - - M - Germany - - - - - 1 Lab Müller-Reible
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #2 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Groen 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Groen 2007 - M - Germany - - - - - 1 Lab Müller-Reible
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - - - - Germline - - - - - DNA SEQ - - LGMD - - - F - Germany - - - - - 1 Lab Müller-Reible
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - - - - Germline - - - - - DNA SEQ - - LGMD - - - F - Germany - - - - - 1 Lab Müller-Reible
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic (recessive) g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic (recessive) g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Germany - - - - - 1 Amets Sáenz
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic (recessive) g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic (recessive) g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic (recessive) g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+/. 11 c.1468C>T r.1468c>u p.Arg490Trp Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Chrobakova, PubMed: Hermanova 2005, PubMed: Stehlikova 2007 - - Germline - - AlwI-;BanII+ - - DNA, RNA RT-PCR, SEQ, DHPLC - - LGMD Pat6/4 PubMed: Chrobakova, PubMed: Hermanova 2005, PubMed: Stehlikova 2007 - M - Czech Republic - >20y - - - 1 Johan den Dunnen
?/. 11 c.1468C>T r.1468c>u p.Arg490Trp Unknown - VUS g.42693952C>T g.42401754C>T - - CAPN3_000009 - - - - Germline - - - - - DNA, RNA SEQ - - hCK - - - - - - - - - - - 1 Lorea Blazquez
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #2 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Fanin 2007 - - Germline - - - - - DNA SSCA - - LGMD 16971480-Pat10 PubMed: Fanin 2007 - M - Italy - - - - - 1 Marina Fanin
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Fanin 2007 - - Germline - - - - - DNA SSCA - - LGMD 16971480-Pat15 PubMed: Fanin 2007 - F - Italy - - - - - 1 Marina Fanin
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Guglieri 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - M - Italy - >41y - - - 1 Johan den Dunnen
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Guglieri 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - M - Italy - >22y - - - 1 Johan den Dunnen
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Guglieri 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - F - Italy - >33y - - - 1 Johan den Dunnen
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Groen 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Groen 2007 - M - United Kingdom (Great Britain) - - - - - 1 Ann Curtis
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Groen 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Groen 2007 - F - United Kingdom (Great Britain) - - - - - 1 Ann Curtis
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Groen 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Groen 2007 - F - United Kingdom (Great Britain) - - - - - 1 Ann Curtis
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #2 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Groen 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Groen 2007 - F - United Kingdom (Great Britain) - - - - - 1 Ann Curtis
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Groen 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Groen 2007 - F - United Kingdom (Great Britain) - - - - - 1 Ann Curtis
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Groen 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Groen 2007 - M - United Kingdom (Great Britain) - - - - - 1 Ann Curtis
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Groen 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Groen 2007 - M - United Kingdom (Great Britain) - - - - - 1 Ann Curtis
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #2 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Groen 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Groen 2007 - M - United Kingdom (Great Britain) - - - - - 1 Ann Curtis
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #2 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Nascimbeni 2010 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Nascimbeni 2010 patient fron one region (Veneto) - - Italy - - - - - 1 Marina Fanin
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Both (homozygous) - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - VUS g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Both (homozygous) - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 variant apparently homozygous; no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. - c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - likely pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141656719 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.1468C>T r.(?) p.(Arg490Trp) Unknown - pathogenic g.42693952C>T - - - CAPN3_000009 - - - rs141656719 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic (recessive) g.42693952C>T g.42401754C>T Arg490Trp - CAPN3_000009 - PubMed: Schröder 2013 - - Germline - - - - - DNA SEQ - - LGMD CAPN3-Pat10 PubMed: Schröder 2013 - - - Germany - - - - - 1 Johan den Dunnen
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic (recessive) g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam10Pat1 PubMed: Magri 2015 - F - Italy - - - - - 1 Johan den Dunnen
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic (recessive) g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam23Pat1 PubMed: Magri 2015 - M - Italy - - - - - 1 Johan den Dunnen
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic (recessive) g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam34Pat1 PubMed: Magri 2015 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.1468C>T r.(?) p.(Arg490Trp) Parent #2 - pathogenic (recessive) g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+?/. - c.1468C>T r.(?) p.(Arg490Trp) Unknown - likely pathogenic g.42693952C>T g.42401754C>T - - CAPN3_000009 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
+/. 11 c.1468C>T r.(?) p.(Arg490Trp) Unknown - pathogenic (recessive) g.42693952C>T g.42401754C>T - - CAPN3_000009 combination of variants not reported PubMed: Barp 2020 - - Germline - 6/57 cases - - - DNA SEQ - - LGMD - PubMed: Barp 2020 analysis 57 LGMD2A cases - - - - - - - - 6 Johan den Dunnen
+/. - c.1468C>T r.(?) p.(Arg490Trp) Unknown - pathogenic g.42693952C>T - CAPN3(NM_000070.2):c.1468C>T (p.(Arg490Trp)), CAPN3(NM_000070.3):c.1468C>T (p.R490W) - CAPN3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1468C>T r.(?) p.(Arg490Trp) Unknown - likely pathogenic (recessive) g.42693952C>T - c. [1468C>T(;)2362_2363delAGinsTCATCT]; p.[(Arg490Trp)(;)(Arg788Serfs*14)] - CAPN3_000009 - PubMed: Escobar-Cedillo 2021 - - Germline - - - - - DNA SEQ-NG Blood - LGMD - PubMed: Escobar-Cedillo 2021 - M - Mexico Mexican-mestizo - - - - 1 Luz Berenice Lopez-Hernandez
+?/. - c.1468C>T r.(?) p.(Arg490Trp) Both (homozygous) - likely pathogenic g.42693952C>T - c.1468C>T; p.(Arg490Trp) - CAPN3_000009 - PubMed: Escobar-Cedillo 2021 - - Germline - - - - - DNA SEQ-NG Blood - LGMD - PubMed: Escobar-Cedillo 2021 - M - Mexico Mexican-mestizo - - - - 1 Luz Berenice Lopez-Hernandez
+/. - c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic (recessive) g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Stehlikova 2014 - - Germline - - - - - DNA SEQ - - LGMD2 LGMD-Pat61 PubMed: Stehlikova 2014 - - - Czech Republic - - - - - 1 Johan den Dunnen
+/. - c.1468C>T r.(?) p.(Arg490Trp) Parent #1 - pathogenic (recessive) g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Stehlikova 2014 - - Germline - - - - - DNA SEQ - - LGMD2 LGMD-Pat33 PubMed: Stehlikova 2014 - - - Czech Republic - - - - - 1 Johan den Dunnen
+/. - c.1468C>T r.(?) p.(Arg490Trp) Both (homozygous) - pathogenic (recessive) g.42693952C>T g.42401754C>T - - CAPN3_000009 - PubMed: Marti 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES hCK Pat12 PubMed: Marti 2025 patient, no family history - - Spain - - - - - 1 Johan den Dunnen
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