Full data view for gene SGCG

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000231.2 transcript reference sequence.

92 entries on 1 page. Showing entries 1 - 92.
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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     
?/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - VUS g.23898652G>A g.23324513G>A - - SGCG_000002 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany Gypsy - - - - 1 Gabriele Dekomien
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany Gypsy - - - - 1 Gabriele Dekomien
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany Gypsy - - - - 1 Gabriele Dekomien
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany Gypsy - - - - 1 Gabriele Dekomien
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany Gypsy - - - - 1 Gabriele Dekomien
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany Gypsy - - - - 1 Gabriele Dekomien
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany Gypsy - - - - 1 Gabriele Dekomien
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany Gypsy - - - - 1 Gabriele Dekomien
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #2 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany Gypsy - - - - 1 Gabriele Dekomien
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #2 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany Gypsy - - - - 1 Gabriele Dekomien
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #2 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany Gypsy - - - - 1 Gabriele Dekomien
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #2 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany Gypsy - - - - 1 Gabriele Dekomien
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #2 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany Gypsy - - - - 1 Gabriele Dekomien
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #2 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany Gypsy - - - - 1 Gabriele Dekomien
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #2 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany Gypsy - - - - 1 Gabriele Dekomien
+/. 8 c.848G>A r.(=) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - PubMed: Garcia-Garcia - - Germline - - RsaI+ - - DNA SEQ - - LGMD - PubMed: Garcia-Garcia - - - Spain Gypsy - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(=) p.(Cys283Tyr) Parent #2 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - PubMed: Garcia-Garcia - - Germline - - RsaI+ - - DNA SEQ - - LGMD - PubMed: Garcia-Garcia - - - Spain Gypsy - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.848g>a p.Cys283Tyr Parent #1 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - PubMed: Piccolo, OMIM:var0002 - - Germline - - RsaI+ - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Crosbie 2000 7 large families; shared haplotype - - - Gypsy - - - - 7 Johan den Dunnen
+/. 8 c.848G>A r.848g>a p.Cys283Tyr Parent #2 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - PubMed: Piccolo, OMIM:var0002 - - Germline - - RsaI+ - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Crosbie 2000 7 large families; shared haplotype - - - Gypsy - - - - 7 Johan den Dunnen
+/. 8 c.848G>A r.848g>a p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - Merlini, 2001, Acta Myologica 20: 188-191 - - Germline - - RsaI+ - - DNA SEQ - - LGMD - Merlini, 2001, Acta Myologica 20: 188-191 extensive phenotypic study - - Bulgaria Gypsy - - - - 21 Johan den Dunnen
+/. 8 c.848G>A r.848g>a p.(Cys283Tyr) Parent #2 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - Merlini, 2001, Acta Myologica 20: 188-191 - - Germline - - RsaI+ - - DNA SEQ - - LGMD - Merlini, 2001, Acta Myologica 20: 188-191 extensive phenotypic study - - Bulgaria Gypsy - - - - 21 Johan den Dunnen
+/. 8 c.848G>A r.848g>a p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - Merlini, 2001, Acta Myologica 20: 188-191 - - Germline - - RsaI+ - - DNA SEQ - - LGMD - Merlini, 2001, Acta Myologica 20: 188-191 extensive phenotypic study - - Germany Gypsy - - - - 2 Johan den Dunnen
+/. 8 c.848G>A r.848g>a p.(Cys283Tyr) Parent #2 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - Merlini, 2001, Acta Myologica 20: 188-191 - - Germline - - RsaI+ - - DNA SEQ - - LGMD - Merlini, 2001, Acta Myologica 20: 188-191 extensive phenotypic study - - Germany Gypsy - - - - 2 Johan den Dunnen
+/. 8 c.848G>A r.848g>a p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - Merlini, 2001, Acta Myologica 20: 188-191 - - Germline - - RsaI+ - - DNA SEQ - - LGMD - Merlini, 2001, Acta Myologica 20: 188-191 extensive phenotypic study - - France Gypsy - - - - 4 Johan den Dunnen
+/. 8 c.848G>A r.848g>a p.(Cys283Tyr) Parent #2 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - Merlini, 2001, Acta Myologica 20: 188-191 - - Germline - - RsaI+ - - DNA SEQ - - LGMD - Merlini, 2001, Acta Myologica 20: 188-191 extensive phenotypic study - - France Gypsy - - - - 4 Johan den Dunnen
+/. 8 c.848G>A r.848g>a p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - Merlini, 2001, Acta Myologica 20: 188-191 - - Germline - - RsaI+ - - DNA SEQ - - LGMD - Merlini, 2001, Acta Myologica 20: 188-191 extensive phenotypic study - - Italy Gypsy - - - - 2 Johan den Dunnen
+/. 8 c.848G>A r.848g>a p.(Cys283Tyr) Parent #2 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - Merlini, 2001, Acta Myologica 20: 188-191 - - Germline - - RsaI+ - - DNA SEQ - - LGMD - Merlini, 2001, Acta Myologica 20: 188-191 extensive phenotypic study - - Italy Gypsy - - - - 2 Johan den Dunnen
+/. 8 c.848G>A r.848g>a p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - Merlini, 2001, Acta Myologica 20: 188-191 - - Germline - - RsaI+ - - DNA SEQ - - LGMD - Merlini, 2001, Acta Myologica 20: 188-191 extensive phenotypic study - - Portugal Gypsy - - - - 2 Johan den Dunnen
+/. 8 c.848G>A r.848g>a p.(Cys283Tyr) Parent #2 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - Merlini, 2001, Acta Myologica 20: 188-191 - - Germline - - RsaI+ - - DNA SEQ - - LGMD - Merlini, 2001, Acta Myologica 20: 188-191 extensive phenotypic study - - Portugal Gypsy - - - - 2 Johan den Dunnen
+/. 8 c.848G>A r.848g>a p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - Merlini, 2001, Acta Myologica 20: 188-191 - - Germline - - RsaI+ - - DNA SEQ - - LGMD - Merlini, 2001, Acta Myologica 20: 188-191 extensive phenotypic study - - Spain Gypsy - - - - 4 Johan den Dunnen
+/. 8 c.848G>A r.848g>a p.(Cys283Tyr) Parent #2 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - Merlini, 2001, Acta Myologica 20: 188-191 - - Germline - - RsaI+ - - DNA SEQ - - LGMD - Merlini, 2001, Acta Myologica 20: 188-191 extensive phenotypic study - - Spain Gypsy - - - - 4 Johan den Dunnen
+/. 8 c.848G>A r.848g>a p.Cys283Tyr Parent #1 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - PubMed: Boito - - Germline - - RsaI+ - - DNA, RNA RT-PCR, SSCA - - MD - PubMed: Boito - F - Italy - - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.848g>a p.Cys283Tyr Parent #2 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - PubMed: Boito - - Germline - - RsaI+ - - DNA, RNA RT-PCR, SSCA - - MD - PubMed: Boito - F - Italy - - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(=) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - PubMed: Todorova 1999, PubMed: Todorova 2004, OMIM:var0002 - - Germline - - - - - DNA SSCA - - MD - PubMed: Todorova 1999, PubMed: Todorova 2004, OMIM:var0002 45 homozygous patients; shared haplotype - - Bulgaria Gypsy - - - - 45 Johan den Dunnen
+/. 8 c.848G>A r.(=) p.(Cys283Tyr) Parent #2 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - PubMed: Todorova 1999, PubMed: Todorova 2004, OMIM:var0002 - - Germline - - - - - DNA SSCA - - MD - PubMed: Todorova 1999, PubMed: Todorova 2004, OMIM:var0002 45 homozygous patients; shared haplotype - - Bulgaria Gypsy - - - - 45 Johan den Dunnen
+/. 8 c.848G>A r.(=) p.(Cys283Tyr) Parent #2 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - PubMed: Bonnemann - - Germline - - RsaI+ - - DNA SSCA - - LGMD - PubMed: Bonnemann - M - Australia - - - - - 1 Johan den Dunnen
-/. 8 c.848G>A r.(=) p.(Cys283Tyr) Parent #1 - benign g.23898652G>A g.23324513G>A - - SGCG_000002 - PubMed: Todorova 1999, PubMed: Todorova 2004, OMIM:var0002 - - Germline - 9/800 - - - DNA SSCA - - ? - PubMed: Todorova 1999, PubMed: Todorova 2004, OMIM:var0002 newborns, North-East Bulgaria - - Bulgaria - - - - - 9 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - F - Italy - >22y - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #2 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - F - Italy - >22y - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - M - Italy - >12y - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #2 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - M - Italy - >12y - - - 1 Johan den Dunnen
-/. 8 c.848G>A r.(=) p.(Cys283Tyr) Parent #1 - benign g.23898652G>A g.23324513G>A - - SGCG_000002 - PubMed: Todorova 1999, PubMed: Todorova 2004, OMIM:var0002 - - Germline - 17/1632 - - - DNA SSCA - - ? - PubMed: Todorova 1999, PubMed: Todorova 2004, OMIM:var0002 45 registered patients in population tested - - Bulgaria Gypsy - - - - 17 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Paternal (confirmed) - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 shared allele PubMed: Lasa 1998 - - Germline - - RsaI+ - - DNA PCRdig - - LGMD - PubMed: Lasa 1998 relative of Fam1b - - Spain Gypsy - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Maternal (confirmed) - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 shared allele PubMed: Lasa 1998 - - Germline - - RsaI+ - - DNA PCRdig - - LGMD - PubMed: Lasa 1998 relative of Fam1b - - Spain Gypsy - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Paternal (confirmed) - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 shared allele PubMed: Lasa 1998 - - Germline - - RsaI+ - - DNA PCRdig - - LGMD - PubMed: Lasa 1998 relative of Fam1a - - Spain Gypsy - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Maternal (confirmed) - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 shared allele PubMed: Lasa 1998 - - Germline - - RsaI+ - - DNA PCRdig - - LGMD - PubMed: Lasa 1998 relative of Fam1a - - Spain Gypsy - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 shared allele PubMed: Lasa 1998 - - Germline - - RsaI+ - - DNA PCRdig - - LGMD - PubMed: Lasa 1998 - - - Spain Gypsy - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #2 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 shared allele PubMed: Lasa 1998 - - Germline - - RsaI+ - - DNA PCRdig - - LGMD - PubMed: Lasa 1998 - - - Spain Gypsy - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 shared allele PubMed: Lasa 1998 - - Germline - - RsaI+ - - DNA PCRdig - - LGMD - PubMed: Lasa 1998 - - - Spain Gypsy - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #2 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 shared allele PubMed: Lasa 1998 - - Germline - - RsaI+ - - DNA PCRdig - - LGMD - PubMed: Lasa 1998 - - - Spain Gypsy - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 shared allele PubMed: Lasa 1998 - - Germline - - RsaI+ - - DNA PCRdig - - LGMD - PubMed: Lasa 1998 - - - Spain Gypsy - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #2 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 shared allele PubMed: Lasa 1998 - - Germline - - RsaI+ - - DNA PCRdig - - LGMD - PubMed: Lasa 1998 - - - Spain Gypsy - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 shared allele PubMed: Lasa 1998 - - Germline - - RsaI+ - - DNA PCRdig - - LGMD - PubMed: Lasa 1998 - - - Spain Gypsy - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #2 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 shared allele PubMed: Lasa 1998 - - Germline - - RsaI+ - - DNA PCRdig - - LGMD - PubMed: Lasa 1998 - - - Spain Gypsy - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 shared allele PubMed: Lasa 1998 - - Germline - - RsaI+ - - DNA PCRdig - - LGMD - PubMed: Lasa 1998 - - - Spain Gypsy - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #2 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 shared allele PubMed: Lasa 1998 - - Germline - - RsaI+ - - DNA PCRdig - - LGMD - PubMed: Lasa 1998 - - - Spain Gypsy - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 shared allele PubMed: Lasa 1998 - - Germline - - RsaI+ - - DNA PCRdig - - LGMD - PubMed: Lasa 1998 - - - Spain Gypsy - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #2 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 shared allele PubMed: Lasa 1998 - - Germline - - RsaI+ - - DNA PCRdig - - LGMD - PubMed: Lasa 1998 - - - Spain Gypsy - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 shared allele PubMed: Lasa 1998 - - Germline - - RsaI+ - - DNA PCRdig - - LGMD - PubMed: Lasa 1998 - - - Spain Gypsy - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #2 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 shared allele PubMed: Lasa 1998 - - Germline - - RsaI+ - - DNA PCRdig - - LGMD - PubMed: Lasa 1998 - - - Spain Gypsy - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 shared allele PubMed: Lasa 1998 - - Germline - - RsaI+ - - DNA PCRdig - - LGMD - PubMed: Lasa 1998 - - - Spain Gypsy - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #2 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 shared allele PubMed: Lasa 1998 - - Germline - - RsaI+ - - DNA PCRdig - - LGMD - PubMed: Lasa 1998 - - - Spain Gypsy - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 shared allele PubMed: Lasa 1998 - - Germline - - RsaI+ - - DNA PCRdig - - LGMD - PubMed: Lasa 1998 - - - Spain Gypsy - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #2 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 shared allele PubMed: Lasa 1998 - - Germline - - RsaI+ - - DNA PCRdig - - LGMD - PubMed: Lasa 1998 - - - Spain Gypsy - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 shared allele PubMed: Lasa 1998 - - Germline - - RsaI+ - - DNA PCRdig - - LGMD - PubMed: Lasa 1998 - - - Portugal Gypsy - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #2 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 shared allele PubMed: Lasa 1998 - - Germline - - RsaI+ - - DNA PCRdig - - LGMD - PubMed: Lasa 1998 - - - Portugal Gypsy - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 shared allele PubMed: Lasa 1998 - - Germline - - RsaI+ - - DNA PCRdig - - LGMD - PubMed: Lasa 1998 - - - Portugal Gypsy - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #2 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 shared allele PubMed: Lasa 1998 - - Germline - - RsaI+ - - DNA PCRdig - - LGMD - PubMed: Lasa 1998 - - - Portugal Gypsy - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 control Gypsy chromosomes PubMed: Morar 2004 - - Germline - 6/108 RsaI+ - - DNA PCR - - ? - PubMed: Morar 2004 - - - Bulgaria Gypsy Balkan-Darakchii - - - - 6 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 control Gypsy chromosomes PubMed: Morar 2004 - - Germline - 0/190 RsaI+ - - DNA PCR - - ? - PubMed: Morar 2004 - - - Bulgaria Gypsy Balkan-Kalaidjii - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 control Gypsy chromosomes PubMed: Morar 2004 - - Germline - 0/126 RsaI+ - - DNA PCR - - ? - PubMed: Morar 2004 - - - Bulgaria Gypsy Balkan-Blacksmiths - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 control Gypsy chromosomes PubMed: Morar 2004 - - Germline - 2/122 RsaI+ - - DNA PCR - - ? - PubMed: Morar 2004 - - - Bulgaria Gypsy Balkan-Musicians - - - - 2 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 control Gypsy chromosomes PubMed: Morar 2004 - - Germline - 0/202 RsaI+ - - DNA PCR - - ? - PubMed: Morar 2004 - - - Bulgaria Gypsy Balkan-Feredjelli - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 control Gypsy chromosomes PubMed: Morar 2004 - - Germline - 28/448 RsaI+ - - DNA PCR - - ? - PubMed: Morar 2004 - - - Bulgaria Gypsy Balkan-Turgovzi - - - - 28 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 control Gypsy chromosomes PubMed: Morar 2004 - - Germline - 0/76 RsaI+ - - DNA PCR - - ? - PubMed: Morar 2004 - - - Bulgaria Gypsy Balkan-Xoroxane - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 control Gypsy chromosomes PubMed: Morar 2004 - - Germline - 0/226 RsaI+ - - DNA PCR - - ? - PubMed: Morar 2004 - - - Bulgaria Gypsy Vlax-Rudari - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 control Gypsy chromosomes PubMed: Morar 2004 - - Germline - 0/82 RsaI+ - - DNA PCR - - ? - PubMed: Morar 2004 - - - Bulgaria Gypsy Vlax-Kalderash - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 control Gypsy chromosomes PubMed: Morar 2004 - - Germline - 0/246 RsaI+ - - DNA PCR - - ? - PubMed: Morar 2004 - - - Bulgaria Gypsy Vlax-Lom - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 control Gypsy chromosomes PubMed: Morar 2004 - - Germline - 0/126 RsaI+ - - DNA PCR - - ? - PubMed: Morar 2004 - - - Bulgaria Gypsy Vlax-KalaidjiiS - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 control Gypsy chromosomes PubMed: Morar 2004 - - Germline - 8/586 RsaI+ - - DNA PCR - - ? - PubMed: Morar 2004 - - - Hungary Gypsy - - - - 8 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 control Gypsy chromosomes PubMed: Morar 2004 - - Germline - 0/40 RsaI+ - - DNA PCR - - ? - PubMed: Morar 2004 - - - Lithuania Gypsy - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A C283Y - SGCG_000002 control Gypsy chromosomes PubMed: Morar 2004 - - Germline - 2/148 RsaI+ - - DNA PCR - - ? - PubMed: Morar 2004 - - - Spain Gypsy - - - - 2 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #1 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #2 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Parent #2 - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - - - - Germline - - - - - DNA PCR, SEQ - - LGMD - - - F - United States - - - - - 1 Tom Winder
+/. - c.848G>A r.(?) p.(Cys283Tyr) Parent #2 - pathogenic (recessive) g.23898652G>A g.23324513G>A - - SGCG_000002 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD ? PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.848G>A r.(?) p.(Cys283Tyr) Both (homozygous) ACMG pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 ACMG PM2, PP3, PP5 PubMed: Özyilmaz 2019 - rs104894422 Germline - - - - - DNA SEQ, SEQ-NG - LGMD gene panel LGMD Pat7 PubMed: Özyilmaz 2019 - F - Turkey - - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Both (homozygous) - pathogenic (recessive) g.23898652G>A g.23324513G>A - - SGCG_000002 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam68Pat1 PubMed: Magri 2015 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.848G>A r.(?) p.(Cys283Tyr) Both (homozygous) - pathogenic (recessive) g.23898652G>A g.23324513G>A - - SGCG_000002 - PubMed: Yis 2018 - - Germline - - - - - DNA SEQ - - LGMD Pat3 PubMed: Yis 2018 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Cys283Tyr) Both (homozygous) - pathogenic g.23898652G>A g.23324513G>A - - SGCG_000002 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-1651 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. - c.848G>A r.(?) p.(Cys283Tyr) Unknown - pathogenic g.23898652G>A - SGCG(NM_000231.2):c.848G>A (p.(Cys283Tyr)) - SGCG_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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