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.

86 entries on 1 page. Showing entries 1 - 86.
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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.598_612del r.(?) p.(Phe200_Leu204del) Parent #2 ACMG pathogenic g.42680050_42680064del g.42387852_42387866del 598-612delGTTCTGGAGTGCTCT - CAPN3_000025 ACMG grading: PS3, PS4, PM1, PM2, PM4; additional variants in NEB x2, DNM2, TTN x2, CACNA1S PubMed: Fichna 2018 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat173a PubMed: Fichna 2018 - M - Poland - - - - - 1 Johan den Dunnen
+/. - c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 ACMG pathogenic g.42680050_42680064del g.42387852_42387866del 598-612delGTTCTGGAGTGCTCT - CAPN3_000025 ACMG grading: PS3, PS4, PM1, PM2, PM4; additional variants in COL12A1, PLEC , DNM2TTN PubMed: Fichna 2018 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat424 PubMed: Fichna 2018 - F - Poland - - - - - 1 Johan den Dunnen
+/. - c.598_612del r.(?) p.(Phe200_Leu204del) Parent #2 ACMG pathogenic g.42680050_42680064del g.42387852_42387866del 598-612delGTTCTGGAGTGCTCT - CAPN3_000025 ACMG grading: PS3, PS4, PM1, PM2, PM4; additional variants in MYOT, SGCB, RYR1, NEB, SYNE2, TTN PubMed: Fichna 2018 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat175d PubMed: Fichna 2018 - M - Poland - - - - - 1 Johan den Dunnen
+/. - c.598_612del r.(?) p.(Phe200_Leu204del) Parent #2 ACMG pathogenic g.42680050_42680064del g.42387852_42387866del 598-612delGTTCTGGAGTGCTCT - CAPN3_000025 ACMG grading: PVS1, PS3, PS4, PM1, PM2, PM4; additional variants in COL6A1, COL6A3, HNRNPDL, RYR1 x2, SYNE1, MYH7, TTN x5 PubMed: Fichna 2018 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat144a PubMed: Fichna 2018 - F - Poland - - - - - 1 Johan den Dunnen
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - - - - Germline - - - - - DNA SEQ - - LGMD - - - M - Germany - - - - - 1 Lab Müller-Reible
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - - - - Germline - - - - - DNA SEQ - - LGMD - - pathogenicity unclear M - Germany - - - - - 1 Lab Müller-Reible
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - - - - Germline - - - - - DNA SEQ - - LGMD - - pathogenicity unclear F - Germany - - - - - 1 Lab Müller-Reible
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - Politano et al., Neuromuscul.Disord. 12: 733 - - Germline - - - - - DNA SEQ - - hCK - Politano et al., Neuromuscul.Disord. 12: 733 - - - - - - - - - 2 Johan den Dunnen
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Todorova 2005 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Todorova 2005 - F - Germany - - - - - 1 Lab Müller-Reible
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - - - - Germline - - - - - DNA DHPLC - - LGMD - - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Todorova 2005 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Todorova 2005 - M - Germany - - - - - 1 Lab Müller-Reible
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Piluso 2005 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - M - Germany - - - - - 1 Johan den Dunnen
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Richard 1999, Georgieva ESHG2007, P677 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Richard 1999, Georgieva ESHG2007, P677 - M - Bulgaria - - - - - 1 Johan den Dunnen
+/. 4 c.598_612del r.(?) p.Phe200_Leu204del Parent #1 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: H‰ffner - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: H‰ffner - - - Germany - - - - - 1 Johan den Dunnen
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #2 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Pogoda - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Pogoda - - - Russia - - - - - 1 Johan den Dunnen
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #2 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Canki-Klain - - Germline - - - - - DNA PCR - - LGMD - PubMed: Canki-Klain, OMIM:var0009 - - - Croatia (Hrvatska) - - - - - 2 Johan den Dunnen
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Fanin 2004 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Fanin 2004 - M - Croatia (Hrvatska) - - - - - 1 Marina Fanin
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Piluso 2005 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - M - Italy - - - - - 1 Johan den Dunnen
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Piluso 2005 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - M - Italy - - - - - 1 Johan den Dunnen
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #2 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Piluso 2005 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - M - Hungary - - - - - 1 Johan den Dunnen
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Piluso 2005 - - Germline - - - - - DNA DHPLC - - hCK - PubMed: Piluso 2005 - M - Italy - - - - - 1 Johan den Dunnen
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Piluso 2005 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - F - Italy - - - - - 1 Johan den Dunnen
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - - - - Germline - - - - - DNA SEQ - - LGMD - - - M - Germany - - - - - 1 Lab Müller-Reible
+/. 4 c.598_612del r.598_612del p.Phe200_Leu204del Parent #1 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Hermanova 2005, PubMed: Stehlikova 2007 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, DHPLC - - LGMD Pat10 PubMed: Hermanova 2005, PubMed: Stehlikova 2007 - M - Czech Republic - >22y - - - 1 Johan den Dunnen
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #2 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - - - - Germline - - - - - DNA SEQ - - LGMD - - - F - Germany - - - - - 1 Lab Müller-Reible
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Milic 2005 - - Germline - - - - - DNA DHPLC - - LGMD Fam10 PubMed: Milic 2005 - M - Croatia (Hrvatska) - - - - - 1 Johan den Dunnen
+/. 4 c.598_612del r.598_612del p.Phe200_Leu204del Parent #2 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Stehlikova 2007 - - Germline - - - - - DNA, RNA RT-PCR, DHPLC, SEQ - - LGMD Pat5 PubMed: Stehlikova 2007 - - - Czech Republic - >7y - - - 1 Johan den Dunnen
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #2 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Canki-Klain, PubMed: Milic 2005 - - Germline - - - - - DNA PCR - - LGMD Fam18 PubMed: Canki-Klain, PubMed: Milic 2005, OMIM:var0009 - - - Croatia (Hrvatska) - - - - - 1 Johan den Dunnen
+/. 4 c.598_612del r.598_612del p.Phe200_Leu204del Parent #1 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 heterozygous on RNA PubMed: Chrobakova, PubMed: Hermanova 2005, PubMed: Stehlikova 2007 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, DHPLC - - LGMD Pat5 PubMed: Chrobakova, PubMed: Hermanova 2005, PubMed: Stehlikova 2007 - M - Czech Republic - >67y - - - 1 Johan den Dunnen
?/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Unknown - VUS g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - - - - Germline - - - - - DNA SEQ - - LGMD - - - M - - - - - - - 1 Pervin Dincer
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Guglieri 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - F - Italy - >52y - - - 1 Johan den Dunnen
?/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #2 - VUS g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - - - - Germline - - - - - DNA SEQ - - ? - - - M - (United States) - - - - - 1 Aaron Bossler
+/. 4 c.598_612del r.(?) p.Phe200_Leu204del Parent #2 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - Stehlikova ESHG2009 P16.45 - - Germline - - - - - DNA SEQ - - LGMD - Stehlikova ESHG2009 P16.45 - - - Czech Republic - - - - - 1 Johan den Dunnen
+/. 4 c.598_612del r.(?) p.Phe200_Leu204del Parent #1 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - Stehlikova ESHG2009 P16.45 - - Germline - - - - - DNA SEQ - - LGMD - Stehlikova ESHG2009 P16.45 - - - Czech Republic - - - - - 1 Johan den Dunnen
+/. 4 c.598_612del r.(?) p.Phe200_Leu204del Parent #2 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - Stehlikova ESHG2009 P16.45 - - Germline - - - - - DNA SEQ - - LGMD - Stehlikova ESHG2009 P16.45 - - - Czech Republic - - - - - 1 Johan den Dunnen
+/. 4 c.598_612del r.(?) p.Phe200_Leu204del Parent #1 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 unknown variant 2nd allele Stehlikova ESHG2009 P16.45 - - Germline - - - - - DNA SEQ - - LGMD - Stehlikova ESHG2009 P16.45 - - - Czech Republic - - - - - 1 Johan den Dunnen
+/. 4 c.598_612del r.(?) p.Phe200_Leu204del Parent #1 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 unknown variant 2nd allele Stehlikova ESHG2009 P16.45 - - Germline - - - - - DNA SEQ - - LGMD - Stehlikova ESHG2009 P16.45 - - - Czech Republic - - - - - 1 Johan den Dunnen
+/. 4 c.598_612del r.(?) p.Phe200_Leu204del Parent #1 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 unknown variant 2nd allele Stehlikova ESHG2009 P16.45 - - Germline - - - - - DNA SEQ - - LGMD - Stehlikova ESHG2009 P16.45 - - - Czech Republic - - - - - 1 Johan den Dunnen
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Unknown - pathogenic g.42680050_42680064del g.42387852_42387866del 598_612delTTCTGGAGTGCTCTG - CAPN3_000025 from website {DBsub-Emory} - - - Unknown - - - - - DNA SEQ - - ? Emory-? - - - - (United States) - - - - - 1 Madhuri Hegde
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (dominant) g.42680050_42680064del g.42387852_42387866del 598_612delTTCTGGAGTGCTCTG - CAPN3_000025 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (dominant) g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (dominant) g.42680050_42680064del g.42387852_42387866del 598_612delTTCTGGAGTGCTCTG - CAPN3_000025 2 variants detected PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (dominant) g.42680050_42680064del g.42387852_42387866del 598_612del15 - CAPN3_000025 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (dominant) g.42680050_42680064del g.42387852_42387866del 598_612del15 - CAPN3_000025 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (dominant) g.42680050_42680064del g.42387852_42387866del 598_612del15 - CAPN3_000025 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (dominant) g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (dominant) g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (dominant) g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (dominant) g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (dominant) g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (dominant) g.42680050_42680064del g.42387852_42387866del 598_612del15 - CAPN3_000025 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (dominant) g.42680050_42680064del g.42387852_42387866del 598_612del15 - CAPN3_000025 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (dominant) g.42680050_42680064del g.42387852_42387866del 598_612del15 - CAPN3_000025 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (dominant) g.42680050_42680064del g.42387852_42387866del 598_612del15 - CAPN3_000025 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (dominant) g.42680050_42680064del g.42387852_42387866del 598_612del15 - CAPN3_000025 no variant 2nd chromosome PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.598_612del r.(?) p.(Phe200_Leu204del) Unknown ACMG pathogenic g.42680050_42680064del g.42387852_42387866del c.598_612del15 - CAPN3_000025 ACMG PM1, PM2, PM4, PP5 PubMed: Özyilmaz 2019 - rs727503837 Germline - - - - - DNA SEQ, SEQ-NG - LGMD gene panel LGMD Pat24 PubMed: Özyilmaz 2019 no variant 2nd allele F - Turkey - - - - - 1 Johan den Dunnen
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #2 - pathogenic (recessive) g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Dobrescu 2015 - - Germline - - - - - DNA SEQ - - BMD/DMD patient PubMed: Dobrescu 2015 - M - Romania - - - - - 1 Johan den Dunnen
+/. - c.598_612del r.(?) p.(Phe200_Leu204del) Unknown - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 Haffner et al. 1998. HumMutat 1: S298; Todorova et al. 2005. ClinGenet 67: 356-8 - - rs771137354 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+/. - c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (recessive) g.42680050_42680064del g.42387852_42387866del 200-204delFWSAL - CAPN3_000025 - PubMed: Schröder 2013 - - Germline - - - - - DNA SEQ - - LGMD CAPN3-Pat1 PubMed: Schröder 2013 - - - Germany - - - - - 1 Johan den Dunnen
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (recessive) g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam21Pat1 PubMed: Magri 2015 - F - Italy - - - - - 1 Johan den Dunnen
+/. - c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (recessive) g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (recessive) g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+?/. - c.598_612del r.(?) p.(Phe200_Leu204del) Unknown - likely pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 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
+/. 4 c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (recessive) g.42680050_42680064del - - - CAPN3_000025 - - - - Germline - - - - - DNA SEQ - - LGMD private email contact me for details - F - Romania - - - - - 1 Johan den Dunnen
+?/. - c.598_612del r.(?) p.(Phe200_Leu204del) Maternal (confirmed) - likely pathogenic (recessive) g.42680050_42680064del - 598_612delTTCTGGAGTGCTCTG - CAPN3_000025 - PubMed: Macias 2021 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat214;A5(II1) PubMed: Fichna 2018, PubMed: Macias 2021 2-eneration family, affected sister/brother F - Poland - - - - - 2 Johan den Dunnen
+?/. - c.598_612del r.(?) p.(Phe200_Leu204del) Maternal (confirmed) - likely pathogenic (recessive) g.42680050_42680064del - 598_612delTTCTGGAGTGCTCTG - CAPN3_000025 - PubMed: Macias 2021 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat191;A6(II2) PubMed: Fichna 2018, PubMed: Macias 2021 2-generation family, 3 affected sibs (F, 2M) M - Poland - - - - - 3 Johan den Dunnen
+?/. - c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - likely pathogenic (recessive) g.42680050_42680064del g.42387852_42387866del 598_612delTTCTGGAGTGCTCTG - CAPN3_000025 - PubMed: Macias 2021 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat170;A7 PubMed: Fichna 2018, PubMed: Macias 2021 - M - Poland - - - - - 1 Johan den Dunnen
+?/. - c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - likely pathogenic (recessive) g.42680050_42680064del - 598_612delTTCTGGAGTGCTCTG - CAPN3_000025 - PubMed: Macias 2021 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat250a;A8(II3) PubMed: Fichna 2018, PubMed: Macias 2021 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Poland - - - - - 2 Johan den Dunnen
+/. - c.598_612del r.(?) p.(Phe200_Leu204del) Parent #2 - pathogenic (recessive) g.42680050_42680064del g.42387852_42387866del 598-612del - CAPN3_000025 - PubMed: Macias 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - LGMD C4 PubMed: Macias 2021 - M - Poland - - - - - 1 Johan den Dunnen
+/. - c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (recessive) g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Mroczek 2022 - - Germline - - - - - DNA SEQ - - LGMD2 PatLT-4 PubMed: Mroczek 2022 - - - Lithuania - - - - - 1 Johan den Dunnen
+/. - c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (recessive) g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Mroczek 2022 - - Germline - - - - - DNA SEQ - - LGMD2 PatLT-5 PubMed: Mroczek 2022 - - - Lithuania - - - - - 1 Johan den Dunnen
+/. - c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (recessive) g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Mroczek 2022 - - Germline - - - - - DNA SEQ - - LGMD2 PatCZ-8 PubMed: Mroczek 2022 - - - Czech Republic - - - - - 1 Johan den Dunnen
+/. - c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (recessive) g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Mroczek 2022 - - Germline - - - - - DNA SEQ - - LGMD2 PatCZ-9 PubMed: Mroczek 2022 - - - Czech Republic - - - - - 1 Johan den Dunnen
+/. - c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (recessive) g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Mroczek 2022 - - Germline - - - - - DNA SEQ - - LGMD2 PatCZ-10 PubMed: Mroczek 2022 - - - Czech Republic - - - - - 1 Johan den Dunnen
+/. - c.598_612del r.(?) p.(Phe200_Leu204del) Both (homozygous) - pathogenic (recessive) g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Stehlikova 2014 - - Germline - - - - - DNA SEQ - - LGMD2 LGMD-Pat50 PubMed: Stehlikova 2014 - - - Czech Republic - - - - - 1 Johan den Dunnen
+/. - c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (recessive) g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Stehlikova 2014 - - Germline - - - - - DNA SEQ - - LGMD2 LGMD-Pat51 PubMed: Stehlikova 2014 - - - Czech Republic - - - - - 1 Johan den Dunnen
+/. - c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (recessive) g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Stehlikova 2014 - - Germline - - - - - DNA SEQ - - LGMD2 LGMD-Pat52 PubMed: Stehlikova 2014 - - - Czech Republic - - - - - 1 Johan den Dunnen
+/. - c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (recessive) g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Stehlikova 2014 - - Germline - - - - - DNA SEQ - - LGMD2 LGMD-Pat63 PubMed: Stehlikova 2014 - - - Czech Republic - - - - - 1 Johan den Dunnen
+/. - c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (recessive) g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Stehlikova 2014 - - Germline - - - - - DNA SEQ - - LGMD2 LGMD-Pat64 PubMed: Stehlikova 2014 - - - Czech Republic - - - - - 1 Johan den Dunnen
+/. - c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (recessive) g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Stehlikova 2014 - - Germline - - - - - DNA SEQ - - LGMD2 LGMD-Pat65 PubMed: Stehlikova 2014 - - - Czech Republic - - - - - 1 Johan den Dunnen
+/. - c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (recessive) g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Stehlikova 2014 - - Germline - - - - - DNA SEQ - - LGMD2 LGMD-Pat66 PubMed: Stehlikova 2014 - - - Czech Republic - - - - - 1 Johan den Dunnen
+/. - c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (recessive) g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 no variant 2nd chromosome PubMed: Stehlikova 2014 - - Germline - - - - - DNA SEQ - - LGMD2 LGMD-Pat70 PubMed: Stehlikova 2014 - - - Czech Republic - - - - - 1 Johan den Dunnen
+/. - c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (recessive) g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 no variant 2nd chromosome PubMed: Stehlikova 2014 - - Germline - - - - - DNA SEQ - - LGMD2 LGMD-Pat71 PubMed: Stehlikova 2014 - - - Czech Republic - - - - - 1 Johan den Dunnen
+/. - c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (recessive) g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - PubMed: Stehlikova 2014 - - Germline - - - - - DNA SEQ - - LGMD2 LGMD-Pat28 PubMed: Stehlikova 2014 - - - Czech Republic - - - - - 1 Johan den Dunnen
+/. - c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 - Journal: Sharkova 2021 - - Germline yes - - - - DNA SEQ - - LGMD FamPatII2/III2 Journal: Sharkova 2021 3-generation family, affected mother/daughter F - Russia - - - - - 1 Johan den Dunnen
+/. - c.598_612del r.(?) p.(Phe200_Leu204del) Parent #1 - pathogenic (recessive) g.42680050_42680064del g.42387852_42387866del - - CAPN3_000025 ACMG PM3, PM2, PM4, PM1, PP5 PubMed: Radziwonik-Fraczyk 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - 89-gene panel NMD Pat18 PubMed: Radziwonik-Fraczyk 2024 patient M - Poland - - - - - 1 Johan den Dunnen
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