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.

68 entries on 1 page. Showing entries 1 - 68.
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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.1325G>A r.(?) p.(Arg490Gln) Both (homozygous) - pathogenic (recessive) g.42693953G>A g.42401755G>A NM_173087:c.1325G>A - CAPN3_000034 - PubMed: Alazami 2016 - - Germline - - - - - DNA arraySNP, SEQ, SEQ-NG - WES ? Fam11 PubMed: Alazami 2016 patient - - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #1 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Fanin 2005, OMIM:var0010 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Fanin 2005, OMIM:var0010 - - - Italy - - - - - 1 Marina Fanin
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #2 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Fanin 2005, OMIM:var0010 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Fanin 2005, OMIM:var0010 - - - Italy - - - - - 1 Marina Fanin
+/. 11 c.1469G>A r.1469g>a p.(Arg490Gln) Parent #1 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Richard 1999 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Richard 1999 - - - France - - - - - 2 Johan den Dunnen
+/. 11 c.1469G>A r.1469g>a p.(Arg490Gln) Parent #2 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Richard 1999 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Richard 1999 - - - France - - - - - 2 Johan den Dunnen
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #1 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Fanin 2003, PubMed: Fanin 2004, PubMed: Fanin 2005, OMIM:var0010 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Fanin 2003, PubMed: Fanin 2004, PubMed: Fanin 2005, OMIM:var0010 - - - Italy - - - - - 1 Marina Fanin
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #2 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Fanin 2003, PubMed: Fanin 2004, PubMed: Fanin 2005, OMIM:var0010 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Fanin 2003, PubMed: Fanin 2004, PubMed: Fanin 2005, OMIM:var0010 - - - Italy - - - - - 1 Marina Fanin
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #1 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Fanin 2003, PubMed: Fanin 2004, PubMed: Fanin 2005, OMIM:var0010 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Fanin 2003, PubMed: Fanin 2004, PubMed: Fanin 2005, OMIM:var0010 - - - Italy - - - - - 1 Marina Fanin
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #2 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Fanin 2003, PubMed: Fanin 2004, PubMed: Fanin 2005, OMIM:var0010 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Fanin 2003, PubMed: Fanin 2004, PubMed: Fanin 2005, OMIM:var0010 - - - Italy - - - - - 1 Marina Fanin
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #1 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Fanin 2003, PubMed: Fanin 2004, PubMed: Fanin 2005, OMIM:var0010 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Fanin 2003, PubMed: Fanin 2004, PubMed: Fanin 2005, OMIM:var0010 - - - Italy - - - - - 1 Marina Fanin
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #2 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Fanin 2003, PubMed: Fanin 2004, PubMed: Fanin 2005, OMIM:var0010 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Fanin 2003, PubMed: Fanin 2004, PubMed: Fanin 2005, OMIM:var0010 - - - Italy - - - - - 1 Marina Fanin
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #1 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Fanin 2003, PubMed: Fanin 2004, OMIM:var0010 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Fanin 2003, PubMed: Fanin 2004, OMIM:var0010 - - - Italy - - - - - 1 Marina Fanin
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #2 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Fanin 2003, PubMed: Fanin 2004, OMIM:var0010 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Fanin 2003, PubMed: Fanin 2004, OMIM:var0010 - - - Italy - - - - - 1 Marina Fanin
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #1 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Piluso 2005 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - M - Turkey - - - - - 1 Johan den Dunnen
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #2 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Piluso 2005 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - M - Turkey - - - - - 1 Johan den Dunnen
+/. 11 c.1469G>A r.1469g>a p.Arg490Gln Parent #1 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - - - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD - - - - - United States - - - - - 1 Johan den Dunnen
+/. 11 c.1469G>A r.1469g>a p.Arg490Gln Parent #2 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - - - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD - - - - - United States - - - - - 1 Johan den Dunnen
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #1 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - - - - Germline - - - - - DNA SEQ - - LGMD - - - F - Germany - - - - - 1 Lab Müller-Reible
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #2 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - - - - Germline - - - - - DNA SEQ - - LGMD - - - F - Germany - - - - - 1 Lab Müller-Reible
+/. 11 c.1469G>A r.1469g>a p.Arg490Gln Parent #1 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - - - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD - - - - - United States - - - - - 1 Johan den Dunnen
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #2 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Dincer 1997 - - Germline - - - - - DNA SEQ - - LGMD 09266733-Fam12 PubMed: Dincer 1997 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #1 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Richard 1999 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Richard 1999 - - - France - - - - - 1 Johan den Dunnen
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #1 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Richard 1999 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Richard 1999 - - - France - - - - - 1 Johan den Dunnen
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #1 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Richard 1999 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Richard 1999 - - - France - - - - - 1 Johan den Dunnen
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #2 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Fanin 2004, PubMed: Fanin 2003, OMIM:var0010 - - Germline - - - - - DNA DHPLC - - hCK - PubMed: Fanin 2004 + PubMed: Fanin 2003 - M - Italy - >16y - - - 1 Marina Fanin
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #2 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Fanin 2004, PubMed: Fanin 2003, PubMed: Fanin 2005, OMIM:var0010 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Fanin 2004, PubMed: Fanin 2003, PubMed: Fanin 2005, OMIM:var0009 - M - Italy - >26y - - - 1 Marina Fanin
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #2 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Piluso 2005 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - M - Turkey - - - - - 1 Johan den Dunnen
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #1 - pathogenic (recessive) g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 2 Amets Sáenz
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #1 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Krahn 2006 - - Germline - - - - - DNA DHPLC - - LGMD Pat2 PubMed: Krahn 2006 - M - France - >6y - - - 1 Johan den Dunnen
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #1 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Fanin 2007 - - Germline - - - - - DNA SSCA - - LGMD 16971480-Pat1 PubMed: Fanin 2007 - M - Italy - - - - - 1 Marina Fanin
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #2 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Fanin 2007 - - Germline - - - - - DNA SSCA - - LGMD 16971480-Pat1 PubMed: Fanin 2007 - M - Italy - - - - - 1 Marina Fanin
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #1 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Fanin 2007 - - Germline - - - - - DNA SSCA - - LGMD 16971480-Pat2 PubMed: Fanin 2007 - M - Italy - - - - - 1 Marina Fanin
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #2 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Fanin 2007 - - Germline - - - - - DNA SSCA - - LGMD 16971480-Pat2 PubMed: Fanin 2007 - M - Italy - - - - - 1 Marina Fanin
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #1 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Fanin 2007 - - Germline - - - - - DNA SSCA - - hCK 16971480-Pat3 PubMed: Fanin 2007 - M - Italy - - - - - 1 Marina Fanin
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #1 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Fanin 2007 - - Germline - - - - - DNA SSCA - - LGMD 16971480-Pat6 PubMed: Fanin 2007 - F - Italy - - - - - 1 Marina Fanin
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #2 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Fanin 2007 - - Germline - - - - - DNA SSCA - - LGMD 16971480-Pat6 PubMed: Fanin 2007 - F - Italy - - - - - 1 Marina Fanin
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #1 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Fanin 2007 - - Germline - - - - - DNA SSCA - - LGMD 16971480-Pat7 PubMed: Fanin 2007 - M - Italy - - - - - 1 Marina Fanin
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #2 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Fanin 2007 - - Germline - - - - - DNA SSCA - - LGMD 16971480-Pat7 PubMed: Fanin 2007 - M - Italy - - - - - 1 Marina Fanin
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #1 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Fanin 2007 - - Germline - - - - - DNA SSCA - - LGMD 16971480-Pat8 PubMed: Fanin 2007 - M - Italy - - - - - 1 Marina Fanin
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #1 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Fanin 2007 - - Germline - - - - - DNA SSCA - - LGMD 16971480-Pat14 PubMed: Fanin 2007 - F - Italy - - - - - 1 Marina Fanin
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #2 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Fanin 2007 - - Germline - - - - - DNA SSCA - - LGMD 16971480-Pat14 PubMed: Fanin 2007 - F - Italy - - - - - 1 Marina Fanin
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #2 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Guglieri 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - F - Italy - >39y - - - 1 Johan den Dunnen
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #2 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Guglieri 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - F - Italy - >32y - - - 1 Johan den Dunnen
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #1 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Groen 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Groen 2007 - F - United Kingdom (Great Britain) - - - - - 1 Ann Curtis
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #2 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Groen 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Groen 2007 - F - United Kingdom (Great Britain) - - - - - 1 Ann Curtis
+/. 11 c.1469G>A r.1469g>a p.Arg490Gln Parent #2 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Nascimbeni 2010 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Nascimbeni 2010 patient fron one region (Veneto) - - Italy - - - - - 1 Marina Fanin
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Unknown - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - - - - Unknown - - - - - DNA PCR, SEQ - - LGMD - - - - - United States - - - - - 1 Tom Winder
?/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #1 - VUS g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #1 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #1 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #1 - VUS g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #1 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #1 - pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.1469G>A r.(?) p.(Arg490Gln) Both (homozygous) ACMG pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 ACMG PM1, PM2, PM5, PP3, PP5 PubMed: Özyilmaz 2019 - rs121434548 Germline - - - - - DNA SEQ, SEQ-NG - LGMD gene panel LGMD Pat21 PubMed: Özyilmaz 2019 2-generation family, affected, unaffected heterozygous carrier parents M - Turkey - - - - - 1 Johan den Dunnen
+?/. - c.1469G>A r.(?) p.(Arg490Gln) Parent #1 - likely pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121434548 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
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Both (homozygous) - pathogenic (recessive) g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam11Pat1 PubMed: Magri 2015 - M - Italy - - - - - 1 Johan den Dunnen
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Both (homozygous) - pathogenic (recessive) g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam28Pat1 PubMed: Magri 2015 - M - Italy - - - - - 1 Johan den Dunnen
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #2 - pathogenic (recessive) g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam15Pat1 PubMed: Magri 2015 - F - Italy - - - - - 1 Johan den Dunnen
+/. - c.1469G>A r.(?) p.(Arg490Gln) Parent #2 - pathogenic (recessive) g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+?/. - c.1469G>A r.(?) p.(Arg490Gln) Unknown - likely pathogenic g.42693953G>A g.42401755G>A - - CAPN3_000034 combination of variants not reported PubMed: Topf 2020 - - Germline - 3/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 3 Johan den Dunnen
+?/. - c.1469G>A r.(?) p.(Arg490Gln) Both (homozygous) ACMG likely pathogenic g.42693953G>A g.42401755G>A NM_173087.1:c.1325G>A - CAPN3_000034 ACMG PM1, PM2, PP2, PP3 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - WES ID 12DG1367 PubMed: Anazi 2017 simplex case F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.1469G>A r.(?) p.(Arg490Gln) Unknown - pathogenic g.42693953G>A - CAPN3(NM_000070.2):c.1469G>A (p.(Arg490Gln)) - CAPN3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1469G>A r.(?) p.(Arg490Gln) Both (homozygous) ACMG pathogenic (recessive) g.42693953G>A g.42401755G>A - - CAPN3_000034 ACMG PM1 PM2 PM5 PP3 PP5 PubMed: Cavdarli 2023 - rs121434548 Germline - - - - - DNA SEQ, SEQ-NG - gene panel NMD D38 PubMed: Cavdarli 2023 analysis 146 neuromuscular disease patients M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.1469G>A r.(?) p.(Arg490Gln) Both (homozygous) ACMG pathogenic (recessive) g.42693953G>A g.42401755G>A - - CAPN3_000034 ACMG PM1 PM2 PM5 PP3 PP5 PubMed: Cavdarli 2023 - rs121434548 Germline - - - - - DNA SEQ, SEQ-NG - 47-gene panel MD D38 PubMed: Cavdarli 2023 analysis 67 patients muscular dystrophy/myopathy (not DMD) M - Turkey - - - - - 1 Johan den Dunnen
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #1 - pathogenic (recessive) g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Balci 2006 - - Germline - - - - - DNA SEQ - - LGMD2 Pat13 PubMed: Balci 2006 - M no Turkey - - - - - 1 Pervin Dincer
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Both (homozygous) - pathogenic (recessive) g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Balci 2006 - - Germline - - - - - DNA SEQ - - LGMD2 Pat16 PubMed: Balci 2006 - M yes Turkey - - - - - 1 Pervin Dincer
+/. 11 c.1469G>A r.(?) p.(Arg490Gln) Parent #2 - pathogenic (recessive) g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Balci 2006 - - Germline - - - - - DNA SEQ - - LGMD2 Pat4 PubMed: Balci 2006 - F yes Turkey - - - - - 1 Pervin Dincer
+/. - c.1469G>A r.(?) p.(Arg490Gln) Parent #1 - pathogenic (recessive) g.42693953G>A g.42401755G>A - - CAPN3_000034 - PubMed: Stehlikova 2014 - - Germline - - - - - DNA SEQ - - LGMD2 LGMD-Pat34 PubMed: Stehlikova 2014 - - - Czech Republic - - - - - 1 Johan den Dunnen
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