Full data view for gene SGCA

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000023.2 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     
+?/. 7 c.850C>T r.(?) p.(Arg284Cys) Unknown - likely pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - - - - Germline - - - - - DNA SEQ-NG-H - - LGMDR3;LGMD2D - - - M no Spain - - - - - 1 Aurelio Hernández-Laín
?/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #1 - VUS g.48247606C>T g.50170245C>T - - SGCA_000005 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Greece - - - - - 1 Gabriele Dekomien
?/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #1 - VUS g.48247606C>T g.50170245C>T - - SGCA_000005 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #2 - VUS g.48247606C>T g.50170245C>T - - SGCA_000005 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #2 - VUS g.48247606C>T g.50170245C>T - - SGCA_000005 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #2 - VUS g.48247606C>T g.50170245C>T - - SGCA_000005 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #2 - VUS g.48247606C>T g.50170245C>T - - SGCA_000005 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #2 - VUS g.48247606C>T g.50170245C>T - - SGCA_000005 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Greece - - - - - 1 Gabriele Dekomien
+/. 7 c.850C>T r.850c>u p.Arg284Cys Parent #2 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Duggan - - Germline - - - - - DNA, RNA RT-PCR, SSCA - - LGMD - PubMed: Duggan - - - - United States/Italy - - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Paternal (confirmed) - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Dos Santos 2001 - - Germline - - - - - DNA SSCA - - BMD - PubMed: Dos Santos 2001 brother of 11693784.2 M - Portugal - - - - - 1 Rosário dos Santos
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #2 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - {DB: Newcastle} - - Germline - - - - - DNA HD, SSCA - - LGMD - {DB: Newcastle} - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.850c>u p.Arg284Cys Parent #1 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Duggan - - Germline - - - - - DNA, RNA RT-PCR, SSCA - - LGMD - PubMed: Duggan - - - United States - - - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.850c>u p.Arg284Cys Parent #2 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Duggan - - Germline - - - - - DNA, RNA RT-PCR, SSCA - - LGMD - PubMed: Duggan - - - United States - - - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #1 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Carrie 1997 - - Germline - - - - - DNA DGGE - - hCK - PubMed: Carrie 1997 - F no France - >54y - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #2 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Carrie 1997 - - Germline - - - - - DNA DGGE - - hCK - PubMed: Carrie 1997 - F no France - >54y - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #1 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Carrie 1997 - - Germline - - - - - DNA DGGE - - hCK - PubMed: Carrie 1997 raised serum transaminase F - Morocco - - - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #2 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Carrie 1997 - - Germline - - - - - DNA DGGE - - hCK - PubMed: Carrie 1997 raised serum transaminase F - Morocco - - - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.850c>u p.Arg284Cys Parent #1 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Angelini, OMIM:var0005 - - Germline - - - - - DNA, RNA RT-PCR, SSCA - - LGMD - PubMed: Angelini, OMIM:var0005 - - - - United States/Italy - - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.850c>u p.Arg284Cys Parent #2 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Angelini, OMIM:var0005 - - Germline - - - - - DNA, RNA RT-PCR, SSCA - - LGMD - PubMed: Angelini, OMIM:var0005 - - - - United States/Italy - - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #2 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Carrie 1997 - - Germline - - - - - DNA DGGE - - LGMD - PubMed: Carrie 1997 - - - - France/Italy - - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #2 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Carrie 1997 - - Germline - - - - - DNA DGGE - - LGMD - PubMed: Carrie 1997 - - - - France/Italy - - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #1 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Carrie 1997 - - Germline - - - - - DNA DGGE - - LGMD - PubMed: Carrie 1997 - - - France - - - - - 3 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #1 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Carrie 1997 - - Germline - - - - - DNA DGGE - - LGMD - PubMed: Carrie 1997 - - - Italy - - - - - 2 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.Arg284Cys Parent #1 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Mongini - - Germline - - - - - DNA, RNA RT-PCR, SSCA - - hCK - PubMed: Mongini - M - Italy - - - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #2 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Vainzof, PubMed: Moreira 2003 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Vainzof, PubMed: Moreira 2003 3 affected brothers M - Brazil - - - - - 3 Johan den Dunnen
+/. 7 c.850C>T r.850c>u p.Arg284Cys Parent #2 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Boito - - Germline - - - - - DNA, RNA RT-PCR, SSCA - - LGMD - PubMed: Boito - F - Italy - - - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.850c>u p.Arg284Cys Parent #1 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Boito - - Germline - - - - - DNA, RNA RT-PCR, SSCA - - LGMD - PubMed: Boito - F - Italy - - - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #2 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Moreira 2003, PubMed: Passos-Bueno - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Moreira 2003, PubMed: Passos-Bueno brother of LG7.1, LG7.3, LG7.4 M - Brazil - - - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #2 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Moreira 2003, PubMed: Passos-Bueno - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Moreira 2003, PubMed: Passos-Bueno sister of LG7.1, LG7.2, LG7.4 F - Brazil - - - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #2 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Moreira 2003, PubMed: Passos-Bueno - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Moreira 2003, PubMed: Passos-Bueno sister of LG7.1, LG7.2, LG7.3 F - Brazil - - - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #2 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Moreira 2003, PubMed: Passos-Bueno - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Moreira 2003, PubMed: Passos-Bueno brother of LG7.2, LG7.3, LG7.4 M - Brazil - - - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #2 - pathogenic (recessive) g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #1 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - F - Italy - >22y - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #1 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 relative of 14663034e-IV.2 F - Italy - >42y - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #1 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 relative of 14663034e-IV.1 M - Italy - >40y - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #1 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - M - Italy - >29y - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #2 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - F - Italy - >22y - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #2 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 relative of 14663034e-IV.2 F - Italy - >42y - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #2 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 relative of 14663034e-IV.1 M - Italy - >40y - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #2 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - M - Italy - >29y - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #2 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - F - Italy - >11y - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Paternal (confirmed) - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Dos Santos 2001 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Dos Santos 2001 sister of 11693784.1 F - Portugal - - - - - 1 Rosário dos Santos
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #2 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Trabelsi 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - no (France) - - - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #1 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Trabelsi 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - - (France) - - - - - 2 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #2 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Trabelsi 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - - (France) - - - - - 2 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #2 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Trabelsi 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - no (France) - - - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #2 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Eymard 1997 - - Germline - - - - - DNA DGGE - - LGMD - PubMed: Eymard 1997 - F no (Italy);(France) Europe >35y - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #2 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Eymard 1997 - - Germline - - - - - DNA DGGE - - BMD/DMD - PubMed: Eymard 1997 - M no (Italy);(France) Europe >29y - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #2 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Klinge 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Klinge 2008 relative of 18996010.9b - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #2 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Klinge 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Klinge 2008 relative of 18996010.9a - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #2 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - ESHG2010 Stehlikova P2.117 - - Germline - - - - - DNA SEQ - - LGMD - ESHG2010 Stehlikova P2.117 - - - Czech Republic - - - - - 1 Jana Zidkova
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #2 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - ESHG2010 Stehlikova P2.117 - - Germline - - - - - DNA SEQ - - LGMD - ESHG2010 Stehlikova P2.117 - - - Czech Republic - - - - - 1 Jana Zidkova
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #2 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - - - - Germline - - - - - DNA PCR, SEQ - - LGMD - - - F - United States - - - - - 1 Tom Winder
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #1 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - - - - Germline - - - - - DNA PCR, SEQ - - LGMD - - - M - United States white - - - - 1 Tom Winder
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Both (homozygous) - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 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
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #1 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Both (homozygous) - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 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
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #1 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Both (homozygous) - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 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
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #1 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #1 - VUS g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #1 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 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
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #1 - pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. - c.850C>T r.(?) p.(Arg284Cys) Unknown - likely pathogenic g.48247606C>T g.50170245C>T SGCA(NM_000023.4):c.850C>T (p.R284C) - SGCA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.850C>T r.(?) p.(Arg284Cys) Both (homozygous) ACMG pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 ACMG PM3, PP5 PubMed: Özyilmaz 2019 - rs137852623 Germline - - - - - DNA SEQ, SEQ-NG - LGMD gene panel LGMD Pat9 PubMed: Özyilmaz 2019 - M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.850C>T r.(?) p.(Arg284Cys) Both (homozygous) ACMG pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 ACMG PM3, PP5 PubMed: Özyilmaz 2019 - rs137852623 Germline - - - - - DNA SEQ, SEQ-NG - LGMD gene panel LGMD Pat10 PubMed: Özyilmaz 2019 - F - Turkey - - - - - 1 Johan den Dunnen
+/. - c.850C>T r.(?) p.(Arg284Cys) Both (homozygous) ACMG pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 ACMG PM3, PP5 PubMed: Özyilmaz 2019 - rs137852623 Germline - - - - - DNA SEQ, SEQ-NG - LGMD gene panel LGMD Pat11 PubMed: Özyilmaz 2019 - F - Turkey - - - - - 1 Johan den Dunnen
+/. - c.850C>T r.(?) p.(Arg284Cys) Both (homozygous) ACMG pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 ACMG PM3, PP5 PubMed: Özyilmaz 2019 - rs137852623 Germline - - - - - DNA SEQ, SEQ-NG - LGMD gene panel LGMD Pat5 PubMed: Özyilmaz 2019 - M - Turkey - - - - - 1 Johan den Dunnen
+?/. - c.850C>T r.(?) p.(Arg284Cys) Unknown - pathogenic (recessive) g.48247606C>T g.50170245C>T - - SGCA_000005 - - - rs137852623 Germline/De novo (untested) - - - - - DNA SEQ-NG - - LGMDR3;LGMD2D - - compound heterozygous patient M - Greece - 14y - - - 1 Helen Latsoudis
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Both (homozygous) - pathogenic (recessive) g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam71Pat1 PubMed: Magri 2015 - F - Italy - - - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Both (homozygous) - pathogenic (recessive) g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam72Pat1/2 PubMed: Magri 2015 family, 2 affected (F, M) F;M - Italy - - - - - 2 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Both (homozygous) - pathogenic (recessive) g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam78Pat1 PubMed: Magri 2015 - M - Italy - - - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Both (homozygous) - pathogenic (recessive) g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam79Pat1 PubMed: Magri 2015 - F - Italy - - - - - 1 Johan den Dunnen
+/. 7 c.850C>T r.(?) p.(Arg284Cys) Parent #2 - pathogenic (recessive) g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam73Pat1/2 PubMed: Magri 2015 family, 2 affected (2M) M - Italy - - - - - 2 Johan den Dunnen
+/. - c.850C>T r.(?) p.(Arg284Cys) Both (homozygous) - pathogenic (recessive) g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+?/. - c.850C>T r.(?) p.(Arg284Cys) Unknown - likely pathogenic g.48247606C>T g.50170245C>T - - SGCA_000005 combination of variants not reported PubMed: Topf 2020 - - Germline - 4/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 4 Johan den Dunnen
+/. - c.850C>T r.(?) p.(Arg284Cys) Both (homozygous) - pathogenic (recessive) g.48247606C>T g.50170245C>T - - SGCA_000005 184kb region of homozygosity PubMed: Yis 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - Mendeliome LGMD Pat20 PubMed: Yis 2018 - - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.850C>T r.(?) p.(Arg284Cys) Unknown - pathogenic g.48247606C>T - SGCA(NM_000023.4):c.850C>T (p.R284C) - SGCA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.850C>T r.(?) p.(Arg284Cys) Both (homozygous) ACMG likely pathogenic (recessive) g.48247606C>T g.50170245C>T - - SGCA_000005 ACMG PM1 PM2 PP3 PP5 PubMed: Cavdarli 2023 - rs137852623 Germline - - - - - DNA SEQ, SEQ-NG - gene panel NMD D6 PubMed: Cavdarli 2023 analysis 146 neuromuscular disease patients M - Turkey - - - - - 1 Johan den Dunnen
+?/. - c.850C>T r.(?) p.(Arg284Cys) Both (homozygous) ACMG likely pathogenic (recessive) g.48247606C>T g.50170245C>T - - SGCA_000005 ACMG PM2 PP2 PP3 PP5_S PubMed: Cavdarli 2023 - rs137852623 Germline - - - - - DNA SEQ, SEQ-NG - gene panel NMD D34 PubMed: Cavdarli 2023 analysis 146 neuromuscular disease patients M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.850C>T r.(?) p.(Arg284Cys) Both (homozygous) ACMG pathogenic (recessive) g.48247606C>T g.50170245C>T - - SGCA_000005 ACMG PM2 PM5 PP2 PP3 PP5/S PubMed: Cavdarli 2023 - rs137852623 Germline - - - - - DNA SEQ, SEQ-NG - gene panel NMD D54 PubMed: Cavdarli 2023 analysis 146 neuromuscular disease patients F - Turkey - - - - - 1 Johan den Dunnen
+?/. - c.850C>T r.(?) p.(Arg284Cys) Both (homozygous) ACMG likely pathogenic (recessive) g.48247606C>T g.50170245C>T - - SGCA_000005 ACMG PM1 PM2 PP3 PP5 PubMed: Cavdarli 2023 - rs137852623 Germline - - - - - DNA SEQ, SEQ-NG - 47-gene panel MD D6 PubMed: Cavdarli 2023 analysis 67 patients muscular dystrophy/myopathy (not DMD) M - Turkey - - - - - 1 Johan den Dunnen
+?/. - c.850C>T r.(?) p.(Arg284Cys) Both (homozygous) ACMG likely pathogenic (recessive) g.48247606C>T g.50170245C>T - - SGCA_000005 ACMG PM2 PP2 PP3 PP5(strong)  PubMed: Cavdarli 2023 - rs137852623 Germline - - - - - DNA SEQ, SEQ-NG - 47-gene panel MD D34 PubMed: Cavdarli 2023 analysis 67 patients muscular dystrophy/myopathy (not DMD) M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.850C>T r.(?) p.(Arg284Cys) Both (homozygous) ACMG pathogenic (recessive) g.48247606C>T g.50170245C>T - - SGCA_000005 ACMG PM2 PM5 PP2 PP3 PP5/S PubMed: Cavdarli 2023 - rs137852623 Germline - - - - - DNA SEQ, SEQ-NG - 47-gene panel MD D54 PubMed: Cavdarli 2023 analysis 67 patients muscular dystrophy/myopathy (not DMD) F - Turkey - - - - - 1 Johan den Dunnen
+/. - c.850C>T r.(?) p.(Arg284Cys) Parent #1 - pathogenic (recessive) g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Stehlikova 2014 - - Germline - - - - - DNA SEQ - - LGMD2 LGMD-Pat82 PubMed: Stehlikova 2014 - - - Czech Republic - - - - - 1 Johan den Dunnen
+/. - c.850C>T r.(?) p.(Arg284Cys) Parent #1 - pathogenic (recessive) g.48247606C>T g.50170245C>T - - SGCA_000005 - PubMed: Stehlikova 2014 - - Germline - - - - - DNA SEQ - - LGMD2 LGMD-Pat83 PubMed: Stehlikova 2014 - - - Czech Republic - - - - - 1 Johan den Dunnen
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