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.

64 entries on 1 page. Showing entries 1 - 64.
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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     
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #1 - pathogenic (recessive) g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #2 - pathogenic (recessive) g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #1 - pathogenic (recessive) g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #2 - pathogenic (recessive) g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #1 - pathogenic g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Richard 1999 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Richard 1999 - - - Spain - - - - - 1 Johan den Dunnen
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #2 - pathogenic g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Richard 1999 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Richard 1999 - - - Spain - - - - - 1 Johan den Dunnen
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #1 - pathogenic g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Richard 1997, PubMed: Dincer 1997 - - Germline - - - - - DNA SEQ - - LGMD 09150160-T14 PubMed: Richard 1997, PubMed: Dincer 1997 6-generation family, 2 affecteds (F, M) - - Turkey - - - - - 1 Johan den Dunnen
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #2 - pathogenic g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Richard 1997, PubMed: Dincer 1997 - - Germline - - - - - DNA SEQ - - LGMD 09150160-T14 PubMed: Richard 1997, PubMed: Dincer 1997 6-generation family, 2 affecteds (F, M) - - Turkey - - - - - 1 Johan den Dunnen
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #1 - pathogenic g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Fanin 2004 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Fanin 2004 - M - Italy - - - - - 1 Marina Fanin
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #2 - pathogenic g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Fanin 2004 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Fanin 2004 - M - Italy - - - - - 1 Marina Fanin
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #1 - pathogenic g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Todorova 2005 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Todorova 2005 2 affecteds F;M - Turkey - - - - - 1 Lab Müller-Reible
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #2 - pathogenic g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Todorova 2005 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Todorova 2005 2 affecteds F;M - Turkey - - - - - 1 Lab Müller-Reible
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #1 - pathogenic g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Urtasun 1998 - - Germline - - - - - DNA SEQ - - LGMD Fam26-case 35 PubMed: Urtasun 1998 distanst cousins F - Spain Basque - - - - 1 Johan den Dunnen
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #2 - pathogenic g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Urtasun 1998 - - Germline - - - - - DNA SEQ - - LGMD Fam26-case 35 PubMed: Urtasun 1998 distanst cousins F - Spain Basque - - - - 1 Johan den Dunnen
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #1 - pathogenic (recessive) g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #2 - pathogenic (recessive) g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #1 - pathogenic (recessive) g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #1 - pathogenic g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Richard 1999 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Richard 1999 - - - Spain - - - - - 1 Johan den Dunnen
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #1 - pathogenic g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Piluso 2005 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - F - Italy - - - - - 1 Johan den Dunnen
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #2 - pathogenic g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Urtasun 1998 - - Germline - - - - - DNA SEQ - - LGMD Fam28-case 38 PubMed: Urtasun 1998 - F - Spain Basque - - - - 1 Johan den Dunnen
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #1 - pathogenic g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Urtasun 1998 - - Germline - - - - - DNA SEQ - - LGMD Fam13 PubMed: Urtasun 1998 - F - Spain Basque - - - - 3 Johan den Dunnen
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #2 - pathogenic g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Urtasun 1998 - - Germline - - - - - DNA SEQ - - LGMD Fam20-case 27 PubMed: Urtasun 1998, OMIM:var0006 - F - Spain Basque - - - - 1 Johan den Dunnen
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #1 - pathogenic g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Richard 1999 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Richard 1999 - - - Spain - - - - - 1 Johan den Dunnen
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #2 - pathogenic g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: de Paula - - Germline - - - - - DNA SSCA, DHPLC - - LGMD - PubMed: de Paula - M - Brazil African-Brazilian - - - - 3 Johan den Dunnen
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #2 - pathogenic g.42702844G>A g.42410646G>A - - CAPN3_000028 - - - - Germline - - - - - DNA SEQ - - LGMD - - - F - Germany - - - - - 1 Lab Müller-Reible
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #2 - pathogenic (recessive) g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #1 - pathogenic (recessive) g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 2 Amets Sáenz
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #1 - pathogenic (recessive) g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #2 - pathogenic (recessive) g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #2 - pathogenic g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Guglieri 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - M - Italy - >41y - - - 1 Johan den Dunnen
?/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #1 - VUS g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #1 - pathogenic g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #1 - pathogenic g.42702844G>A g.42410646G>A - - CAPN3_000028 consistent with diagnosis LGMD PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #1 - pathogenic g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #1 - pathogenic g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #1 - pathogenic g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Both (homozygous) - pathogenic (recessive) g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Mojbafan 2018 - - Germline yes - - - - DNA SEQ - linkage to CAPN3 gene LGMD Fam8 PubMed: Mojbafan 2018 4-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F;M yes Iran - - - - - 2 Johan den Dunnen
+?/. - c.2243G>A r.(?) p.(Arg748Gln) Parent #1 - likely pathogenic g.42702844G>A g.42410646G>A - - CAPN3_000028 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587780290 Germline - 2/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+/. - c.2243G>A r.(?) p.(Arg748Gln) Maternal (confirmed) - pathogenic (recessive) g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P46 PubMed: Yu 2017 analysis 180 LGMD patients M - China - - - - - 1 Johan den Dunnen
+/. - c.2243G>A r.(?) p.(Arg748Gln) Parent #2 - pathogenic (recessive) g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P62 PubMed: Yu 2017 analysis 180 LGMD patients F - China - - - - - 1 Johan den Dunnen
+/. - c.2243G>A r.(?) p.(Arg748Gln) Parent #2 - pathogenic (recessive) g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Zhong 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - LGMD Pat74 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2243G>A r.(?) p.(Arg748Gln) Both (homozygous) - pathogenic (recessive) g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Zhong 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - LGMD Pat86 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2243G>A r.(?) p.(Arg748Gln) Parent #2 - pathogenic (recessive) g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Zhong 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - LGMD Pat14 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2243G>A r.(?) p.(Arg748Gln) Parent #2 - pathogenic (recessive) g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Zhong 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - LGMD Pat15 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2243G>A r.(?) p.(Arg748Gln) Parent #2 - pathogenic (recessive) g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Zhong 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - LGMD Pat27 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2243G>A r.(?) p.(Arg748Gln) Parent #2 - pathogenic (recessive) g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Zhong 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - LGMD Pat55 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2243G>A r.(?) p.(Arg748Gln) Parent #2 - pathogenic (recessive) g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Zhong 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - LGMD Pat61 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.2243G>A r.2243g>a p.(Arg748Gln) Unknown - NA g.42702844G>A g.42410646G>A - - CAPN3_000028 expression cloning mini-gene splicing assay no effect PubMed: Dionnet 2020 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Parent #2 - pathogenic (recessive) g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam23Pat1 PubMed: Magri 2015 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.2243G>A r.(?) p.(Arg748Gln) Both (homozygous) - pathogenic (recessive) g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.2243G>A r.(?) p.(Arg748Gln) Both (homozygous) - pathogenic (recessive) g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+?/. - c.2243G>A r.(?) p.(Arg748Gln) Unknown - likely pathogenic g.42702844G>A g.42410646G>A - - CAPN3_000028 combination of variants not reported PubMed: Topf 2020 - - Germline - 6/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 6 Johan den Dunnen
+/. - c.2243G>A r.(?) p.(Arg748Gln) Both (homozygous) ACMG pathogenic (recessive) g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Mojbafan 2020 - - Germline - - - - - DNA SEQ - - LGMD  Fam12Pat1 PubMed: Mojbafan 2020 2-generation family, 2 affected - - Iran - - - - - 2 Johan den Dunnen
+/. - c.2243G>A r.(?) p.(Arg748Gln) Both (homozygous) ACMG pathogenic (recessive) g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Mojbafan 2020 - - Germline - - - - - DNA SEQ - - LGMD  Fam12Pat2 PubMed: Mojbafan 2020 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.2243G>A r.(?) p.(Arg748Gln) Both (homozygous) - pathogenic (recessive) g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Yis 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES LGMD Pat11/12 PubMed: Yis 2018 family, 2 affected - - Turkey - - - - - 2 Johan den Dunnen
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Both (homozygous) - pathogenic g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-3597 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Both (homozygous) - pathogenic g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-3859 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+?/. - c.2243G>A r.(?) p.(Arg748Gln) Parent #1 - likely pathogenic g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 166-gene panel NMD P146 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - 1 Johan den Dunnen
+/. - c.2243G>A r.(?) p.(Arg748Gln) Paternal (confirmed) ACMG pathogenic (recessive) g.42702844G>A - - - CAPN3_000028 ACMG PM3_VS, PS3_sup, PM1, PM2, PP3, PP1_mod; PP4_mod PubMed: Cerino 2022 - - Germline yes - - - - DNA SEQ-NG-I blood Myopanel2 306 NM genes panel LGMDR1;LGMD2A P14/Myo057 PubMed: Cerino 2022 - F no Chile Hispanic - - - - 1 JA Bevilacqua
+/. 21 c.2243G>A r.(?) p.(Arg748Gln) Both (homozygous) - pathogenic (recessive) g.42702844G>A g.42410646G>A - - CAPN3_000028 - PubMed: Khadilkar 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel MYOP Pat-CAPN3-3 PubMed: Khadilkar 2022 - - - India - - - - - 1 Johan den Dunnen
+/. - c.2243G>A r.(?) p.(Arg748Gln) Unknown - pathogenic g.42702844G>A - CAPN3(NM_000070.2):c.2243G>A (p.(Arg748Gln)) - CAPN3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2243G>A r.(?) p.(Arg748Gln) Parent #1 - pathogenic (recessive) g.42702844G>A - - - CAPN3_000028 - PubMed: Szucs 2022 - - Germline - - - - - DNA FISH, microscope, SEQ, SEQ-NG - WES DMD patient PubMed: Szucs 2022 female patient F - Hungary - - - - - 1 Johan den Dunnen
+/. - c.2243G>A r.(?) p.(Arg748Gln) Both (homozygous) ACMG pathogenic (recessive) g.42702844G>A g.42410646G>A - - CAPN3_000028 ACMG PS3 PM1 PM2 PM5 PP2 PP3 PP5  PubMed: Cavdarli 2023 - rs587780290 Germline - - - - - DNA SEQ, SEQ-NG - gene panel NMD D32 PubMed: Cavdarli 2023 analysis 146 neuromuscular disease patients M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.2243G>A r.(?) p.(Arg748Gln) Both (homozygous) ACMG pathogenic (recessive) g.42702844G>A g.42410646G>A - - CAPN3_000028 ACMG PS3 PM1 PM2 PM5 PP2 PP3 PP5  PubMed: Cavdarli 2023 - rs587780290 Germline - - - - - DNA SEQ, SEQ-NG - 47-gene panel MD D32 PubMed: Cavdarli 2023 analysis 67 patients muscular dystrophy/myopathy (not DMD) M - Turkey - - - - - 1 Johan den Dunnen
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