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.

107 entries on 2 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     
+?/. - c.2362_2363delAGinsTCATCT r.(?) p.(Arg788Serfs*14) Unknown - likely pathogenic (recessive) g.42703180_42703181delinsTCATCT - c. [1468C>T(;)2362_2363delAGinsTCATCT]; p.[(Arg490Trp)(;)(Arg788Serfs*14)] - CAPN3_000015 - PubMed: Escobar-Cedillo 2021 - - Germline - - - - - DNA SEQ-NG Blood - LGMD - PubMed: Escobar-Cedillo 2021 - M - Mexico Mexican-mestizo - - - - 1 Luz Berenice Lopez-Hernandez
+?/. - c.2362_2363delAGinsTCATCT r.(?) p.(Arg788Serfs*14) Unknown - likely pathogenic (recessive) g.42703180_42703181delinsTCATCT - c. [1501A>G(;)2362_2363delAGinsTCATCT];p.[(Thr501Ala)(;)(Arg788Serfs)] - CAPN3_000015 - PubMed: Escobar-Cedillo 2021 - - Germline - - - - - DNA SEQ-NG Blood - LGMD - PubMed: Escobar-Cedillo 2021 - M - Mexico Mexican-mestizo - - - - 1 Luz Berenice Lopez-Hernandez
+?/. - c.2362_2363delAGinsTCATCT r.(?) p.(Arg788Serfs*14) Both (homozygous) - likely pathogenic g.42703180_42703181delinsTCATCT - c.2362_2363delAGinsTCATCT; p.(Arg788Serfs) - CAPN3_000015 - PubMed: Escobar-Cedillo 2021 - - Germline - - - - - DNA SEQ-NG Blood - LGMD - PubMed: Escobar-Cedillo 2021 - F - Mexico Mexican-mestizo - - - - 1 Luz Berenice Lopez-Hernandez
+?/. - c.2362_2363delAGinsTCATCT r.(?) p.(Arg788Serfs*14) Both (homozygous) - likely pathogenic g.42703180_42703181delinsTCATCT - c.2362_2363delAGinsTCATCT; p.(Arg788Serfs) - CAPN3_000015 - PubMed: Escobar-Cedillo 2021 - - Germline - - - - - DNA SEQ-NG Blood - LGMD - PubMed: Escobar-Cedillo 2021 - F - Mexico Mexican-mestizo - - - - 1 Luz Berenice Lopez-Hernandez
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Unknown - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - - - - Germline - - - - - DNA SEQ - - LGMD - - - F - United States - >64y - - - 1 Tom Winder
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic (recessive) g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Cobo 2004, PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Cobo 2004, PubMed: Sáenz 2005 51 homozygous patients (Spain, Portugal, Germany, France, USA), shared haplotype, origin 50 generations old - - - white - - - - 51 Amets Sáenz
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #2 - pathogenic (recessive) g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Cobo 2004, PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Cobo 2004, PubMed: Sáenz 2005 51 homozygous patients (Spain, Portugal, Germany, France, USA), shared haplotype, origin 50 generations old - - - white - - - - 51 Amets Sáenz
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: de Paula - - Germline - - - - - DNA SSCA, DHPLC - - LGMD - PubMed: de Paula - F;M - Brazil white - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #2 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: de Paula - - Germline - - - - - DNA SSCA, DHPLC - - LGMD - PubMed: de Paula - F;M - Brazil white - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: de Paula - - Germline - - - - - DNA SSCA, DHPLC - - LGMD - PubMed: de Paula - F no Brazil white - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #2 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: de Paula - - Germline - - - - - DNA SSCA, DHPLC - - LGMD - PubMed: de Paula - F no Brazil white - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: de Paula - - Germline - - - - - DNA SSCA, DHPLC - - LGMD - PubMed: de Paula - F - Brazil white - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #2 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: de Paula - - Germline - - - - - DNA SSCA, DHPLC - - LGMD - PubMed: de Paula - F - Brazil white - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: de Paula - - Germline - - - - - DNA SSCA, DHPLC - - LGMD - PubMed: de Paula - M no Brazil white - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #2 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: de Paula - - Germline - - - - - DNA SSCA, DHPLC - - LGMD - PubMed: de Paula - M no Brazil white - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: de Paula - - Germline - - - - - DNA SSCA, DHPLC - - LGMD - PubMed: de Paula - M no Brazil African-Brazilian - - - - 2 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #2 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: de Paula - - Germline - - - - - DNA SSCA, DHPLC - - LGMD - PubMed: de Paula - M no Brazil African-Brazilian - - - - 2 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Urtasun 1998, OMIM:var0006 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Urtasun 1998, OMIM:var0006 25 patients; ancestral - - Spain Basque - - - - 25 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #2 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Urtasun 1998, OMIM:var0006 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Urtasun 1998, OMIM:var0006 25 patients; ancestral - - Spain Basque - - - - 25 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Krahn 2006, OMIM:var0006 - - Germline - - - - - DNA SEQ - - ? - PubMed: Krahn 2006, OMIM:var0006 - M - Spain - - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #2 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Krahn 2006, OMIM:var0006 - - Germline - - - - - DNA SEQ - - ? - PubMed: Krahn 2006, OMIM:var0006 - M - Spain - - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Krahn 2006, OMIM:var0006 - - Germline - - - - - DNA SEQ - - hCK - PubMed: Krahn 2006, OMIM:var0006 - F - Spain - - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #2 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Krahn 2006, OMIM:var0006 - - Germline - - - - - DNA SEQ - - hCK - PubMed: Krahn 2006, OMIM:var0006 - F - Spain - - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic (recessive) g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 7 patients (Spain, Portugal, Germany, France, USA) - - - white - - - - 7 Amets Sáenz
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Richard 1999 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Richard 1999 - - - - - - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Urtasun 1998, OMIM:var0006 - - Germline - - - - - DNA SEQ - - LGMD Fam27 PubMed: Urtasun 1998, OMIM:var0006 - F;M - Spain Basque - - - - 2 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Urtasun 1998, OMIM:var0006 - - Germline - - - - - DNA SEQ - - LGMD Fam29-cases 39 PubMed: Urtasun 1998, OMIM:var0006 - F - Spain Basque - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: de Paula - - Germline - - - - - DNA SSCA, DHPLC - - LGMD - PubMed: de Paula - F no Brazil white - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic (recessive) g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 2 affected - - - white - - - - 3 Amets Sáenz
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #2 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Richard 1995 - - Germline - - - - - DNA HD, SEQ - - LGMD 07720071-B505 PubMed: Richard 1995 2-generation family, 2 affecteds (2F) F - Brazil - - - - - 2 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #2 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Richard 1995 - - Germline - - - - - DNA, RNA HD, RT-PCR, SEQ - - LGMD 07720071-R14 PubMed: Richard 1995 + PubMed: Penisson-Besnier - - - Reunion - - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Urtasun 1998, OMIM:var0006 - - Germline - - - - - DNA SEQ - - LGMD Fam5-case 7 PubMed: Urtasun 1998, OMIM:var0006 - M - Spain Basque - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Urtasun 1998, OMIM:var0006 - - Germline - - - - - DNA SEQ - - LGMD Fam7-case 9 PubMed: Urtasun 1998, OMIM:var0006 - F - Spain Basque - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Urtasun 1998, OMIM:var0006 - - Germline - - - - - DNA SEQ - - LGMD Fam20-case 27 PubMed: Urtasun 1998, OMIM:var0006 - F - Spain Basque - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Richard 1997, OMIM:var0006 - - Germline - - - - - DNA SEQ - - LGMD 09150160-US9344 PubMed: Richard 1997, OMIM:var0006 2-generation family, 2 affecteds (2F) F no United States - - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Richard 1999 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Richard 1999 - - - Spain - - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Richard 1997, OMIM:var0006 - - Germline - - - - - DNA HD, SEQ - - LGMD 09150160-US3a PubMed: Richard 1997, OMIM:var0006 2-generation family, 2 affecteds (M, F) M no United States - - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Richard 1999 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Richard 1999 - - - Spain - - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Richard 1999 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Richard 1999 - - - Spain - - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - - - - Germline - - - - - DNA SSCA - - LGMD - - - F - United States - - - - - 1 Rosário dos Santos
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: de Paula - - Germline - - - - - DNA SSCA, DHPLC - - LGMD - PubMed: de Paula - M - Brazil white - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 change in XK:c.451dupC (present in 5 affected cousins together with c.759_761del) PubMed: Starling 2006 - - Germline - - - - - DNA SEQ - - LGMD PatIV-I PubMed: Starling 2006 4-generation family M - Brazil - - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Urtasun 1998, OMIM:var0006 - - Germline - - - - - DNA SEQ - - LGMD Fam24-case 32 PubMed: Urtasun 1998, OMIM:var0006 - M - Spain Basque - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Urtasun 1998, OMIM:var0006 - - Germline - - - - - DNA SEQ - - LGMD Fam25-case 34 PubMed: Urtasun 1998, OMIM:var0006 - F - Spain Basque - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Urtasun 1998, OMIM:var0006 - - Germline - - - - - DNA SEQ - - LGMD Fam19 PubMed: Urtasun 1998, OMIM:var0006 - M - Spain Basque - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic (recessive) g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic (recessive) g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - France - - - - - 1 Amets Sáenz
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic (recessive) g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - France - - - - - 2 Amets Sáenz
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - - - - Germline - - - - - DNA SEQ - - LGMD - - - F - Germany - - - - - 1 Lab Müller-Reible
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - - - - Germline - - - - - DNA SEQ - - LGMD - - - F - Germany - - - - - 1 Lab Müller-Reible
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - - - - Germline - - - - - DNA SEQ - - LGMD - - - M - Germany - - - - - 1 Lab Müller-Reible
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic (recessive) g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic (recessive) g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Richard 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Richard 1999 - - - Spain Basque - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic (recessive) g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic (recessive) g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic (recessive) g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic (recessive) g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic (recessive) g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - France - - - - - 1 Amets Sáenz
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic (recessive) g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 2 Amets Sáenz
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic (recessive) g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - - European - - - - 1 Amets Sáenz
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic (recessive) g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - - European - - - - 1 Amets Sáenz
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic (recessive) g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic (recessive) g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #2 - pathogenic (recessive) g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #2 - pathogenic (recessive) g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #2 - pathogenic (recessive) g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic (recessive) g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic (recessive) g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic (recessive) g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - France - - - - - 1 Amets Sáenz
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #2 - pathogenic (recessive) g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - (Spain);(France) - - - - - 3 Amets Sáenz
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic (recessive) g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 2 Amets Sáenz
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic (recessive) g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic (recessive) g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic (recessive) g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Krahn 2006, OMIM:var0006 - - Germline - - - - - DNA SEQ - - ? - PubMed: Krahn 2006, OMIM:var0006 - F - Spain - - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Cobo 2004 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Cobo 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Krahn 2006, OMIM:var0006 - - Germline - - - - - DNA DHPLC - - LGMD Pat34 PubMed: Krahn 2006, OMIM:var0006 - M - France - - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Krahn 2006, OMIM:var0006 - - Germline - - - - - DNA DHPLC - - LGMD Pat6 PubMed: Krahn 2006, OMIM:var0006 - F - France - >55y - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Krahn 2006, OMIM:var0006 - - Germline - - - - - DNA DHPLC - - LGMD Pat63 PubMed: Krahn 2006, OMIM:var0006 - F - France - - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.2362_2363delinsucaucu p.Arg788Serfs*14 Paternal (confirmed) - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - - - - Germline - - - - - DNA, RNA SEQ - - LGMD - - - F - - - - - - - 1 Lorea Blazquez
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #2 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Groen 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Groen 2007 - F - United Kingdom (Great Britain) - - - - - 1 Ann Curtis
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Groen 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Groen 2007 related to Groen.34 M - United Kingdom (Great Britain) - - - - - 1 Ann Curtis
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Groen 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Groen 2007 related to Groen.22 M - United Kingdom (Great Britain) - - - - - 1 Ann Curtis
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #2 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - Ginjaar, WMS2008 - - Germline - - - - - DNA MLPA - - FSHD - Ginjaar, WMS2008 - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - - - - Germline - - - - - DNA PCR, SEQ - - LGMD - - - - - United States - - - - - 1 Tom Winder
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Richard 1997 - - Germline - - - - - DNA HD, SEQ - - LGMD 09150160-US3b PubMed: Richard 1997 2-generation family, 2 affecteds (M, F) F no United States - >34y - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Paternal (inferred) - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - - - - Germline - - - - - DNA PCR, SEQ - - LGMD - - - F - United States Hispanic - - - - 1 Tom Winder
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Maternal (inferred) - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - - - - Germline - - - - - DNA PCR, SEQ - - LGMD - - - F - United States Hispanic - - - - 1 Tom Winder
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Both (homozygous) - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 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
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Both (homozygous) - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 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
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Both (homozygous) - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 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
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 - pathogenic (recessive) g.42703180_42703181delinsTCATCT g.42410982_42410983delinsTCATCT - - CAPN3_000015 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Both (homozygous) - pathogenic (!) g.42703180_42703181delinsTCATCT - - - CAPN3_000015 authors link variant in heterozygous family members to generalised epilepsy (3/3 cases) PubMed: Viloria-Alebesque 2019 - - Germline - - - - - DNA SEQ - - LGMD FamPatIII4 PubMed: Viloria-Alebesque 2019 3-generation family, 1 affected M - Spain - - - - - 1 Johan den Dunnen
+/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14) Parent #1 ACMG pathogenic (recessive) g.42703180_42703181delinsTCATCT - - - CAPN3_000015 ACMG PVS1, PM3_very_strong, PM2, PP4_mod PubMed: Cerino 2022 - - Germline yes - - - - DNA SEQ blood - LGMDR1;LGMD2A P37/Myo100 PubMed: Cerino 2022 - M no Chile - - - - - 1 JA Bevilacqua
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