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.

761 entries on 8 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. _1_8_ c.-155_*624{0} r.0 p.0 Both (homozygous) ACMG pathogenic g.(?_23755060)_(23899304)?)del g.(?_23180921)_(23325165_?)del del coding sequence - SGCG_000203 ACMG PSV1_strong, PM4, PP4_mod PubMed: Cerino 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MYOP P17/Myo067 PubMed: Cerino 2022 analysis 82 myopathy patients - - Chile - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-155)_(-1+1_1-1)del r.0? p.0? Both (homozygous) - pathogenic g.(?_23755060)_(23755215_23777833)del - - - SGCG_000094 del ex1 PubMed: Trabelsi 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - - (France) - - - - - 2 Johan den Dunnen
+/. _1_4i c.(?_-155)_(385+1_386-1)del r.0? p.0? Parent #1 - pathogenic g.(?_23755060)_(23824857_23853497)del - - - SGCG_000068 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. _1_4i c.(?_-155)_(385+1_386-1)del r.0? p.0? Parent #2 - pathogenic g.(?_23755060)_(23824857_23853497)del - - - SGCG_000068 - PubMed: Wildforster 2009 - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. _1_6i c.(?_-155)_(578+1_579-1)del r.(0) p.(0) Parent #1 - pathogenic g.(?_23755060)_(23869627_23894775)del - - - SGCG_000106 114 kb deletion ESHG2010, Piluso P12.132 - - Germline - - - - - DNA arrayCGH - - LGMD2 - ESHG2010, Piluso P12.132 - - - Italy - - - - - 1 Johan den Dunnen
+/. _1_8_ c.(?_-155)_(*1_?)del r.0? p.0? Parent #2 - pathogenic g.(?_23755060)_(23898681_?)del - - - SGCG_000045 deletion entire gene - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. _1_8_ c.(?_-155)_(*1_?)del r.0? p.0? Parent #2 - pathogenic g.(?_23755060)_(23898681_?)del - - - SGCG_000045 - {PMID19056483:Wildforster 2009} - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. _1_8_ c.(?_-155)_(*1_?)del r.0? p.0? Parent #2 - pathogenic g.(?_23755060)_(23898681_?)del - - - SGCG_000045 - {PMID19056483:Wildforster 2009} - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. _1_8_ c.(?_-155)_(*1_?)del r.0? p.0? Parent #2 - pathogenic g.(?_23755060)_(23898681_?)del - - - SGCG_000045 1.1-2.8 Mb deletion including markers D13S232 (intron 2), D13S292 and D13S1243 but not D13S115 and D13S283 PubMed: Nowak - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA, FISH - - LGMD - PubMed: Nowak sister FamAusIII.2; muscle RNA F - Australia - - - - - 1 Johan den Dunnen
+/. _1_8_ c.(?_-155)_(*1_?)del r.0? p.0? Parent #2 - pathogenic g.(?_23755060)_(23898681_?)del - - - SGCG_000045 - PubMed: Bonnemann, PubMed: Lo 2008 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - LGMD - PubMed: Bonnemann, PubMed: Lo 2008 muscle RNA F - Australia - - - - - 1 Maria Chiotis
+/. _1_8_ c.(?_-155)_(*1_?)del r.0? p.0? Parent #2 - pathogenic g.(?_23755060)_(23898681_?)del - - - SGCG_000045 1.1-2.8 Mb deletion including markers D13S232 (intron 2), D13S292 and D13S1243 but not D13S115 and D13S283 PubMed: Nowak - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA, FISH - - LGMD - PubMed: Nowak sister FamAusIII.1; muscle RNA F - Australia - - - - - 1 Johan den Dunnen
+/. _1_8_ c.(?_-155)_(*1_?)del r.0 p.0 Parent #2 - pathogenic g.(?_23755060)_(23898681_?)del - - - SGCG_000045 deletion entire gene PubMed: Trabelsi 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - no (France) - - - - - 1 Johan den Dunnen
+/. _1_8_ c.(?_-155)_(*1_?)del r.0? p.0? Parent #1 - pathogenic g.(?_23755060)_(23898681_?)del - - - SGCG_000045 deletion entire gene - - - Germline - - - - - DNA MAPH, MLPA, SEQ - - LGMD - - - F - Netherlands - - - - - 1 Ieke Ginjaar
+/. _1_8_ c.(?_-155)_(*1_?)del r.0? p.0? Parent #1 - pathogenic g.(?_23755060)_(23898681_?)del - - - SGCG_000045 deletion entire gene - - - Germline - - - - - DNA MLPA, SEQ - - LGMD - - - F - Netherlands - - - - - 1 Ieke Ginjaar
+/. _1_8_ c.(?_-155)_(*1_?)del r.0 p.0 Parent #2 - pathogenic g.(?_23755060)_(23898681_?)del - - - SGCG_000045 1.3Mb deletion incl. SGCG and 5 flanking genes ESHG2010, Piluso P12.132 - - Germline - - - - - DNA arrayCGH - - LGMD2 - ESHG2010, Piluso P12.132 - - - Italy - - - - - 1 Johan den Dunnen
-/. 1 c.-128del r.-128del p.(=) Parent #1 - benign g.23755087del g.23180948del - - SGCG_000051 - - - - Germline - - - - - DNA SEQ - - ? - - present in dbEST, Sugano heart cDNA library (4/4 clones) - - - - - - - - 1 Johan den Dunnen
+/. 1 c.-127_121del r.(?) p.? Parent #1 - pathogenic g.23755088_23777954del g.23180949_23203815del -128_-122delGACAGTT - SGCG_000092 - PubMed: Trabelsi 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - - (France) - - - - - 2 Johan den Dunnen
-/. 1 c.-88G>A r.-88g>a p.(=) Parent #1 - benign g.23755127G>A g.23180988G>A - - SGCG_000050 - - - rs4770403 Germline - 0.14 - - - - - - - - - - - - - - - - - - - - -
?/. 1i c.-1+5G>A r.spl? p.(?) Parent #1 - VUS g.23755219G>A g.23181080G>A IVS1+5G>A - SGCG_000078 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 1i c.-1+5G>A r.spl? p.(?) Parent #1 - VUS g.23755219G>A g.23181080G>A IVS1+5G>A - SGCG_000078 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 1i c.-1+5G>A r.spl? p.(?) Parent #1 - VUS g.23755219G>A g.23181080G>A IVS1+5G>A - SGCG_000078 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 1i c.-1+5G>A r.spl? p.(?) Parent #1 - VUS g.23755219G>A g.23181080G>A - - SGCG_000078 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
-/. 1i c.-1+1380G>A r.(=) p.(=) Parent #1 - benign g.23756594G>A g.23182455G>A - - SGCG_000015 - - - rs3794371 Germline - 0.48 - - - - - - - - - - - - - - - - - - - - -
+/. - c.(?_299)_*624{0} r.? p.? Parent #1 - pathogenic (recessive) g.(?_23824770)_(24871873_?)del - chr13:23824770-24871873 - SGCG_000187 1047.1 kb deletion; combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 1 Johan den Dunnen
+/. _1_8_ c.0 r.0 p.0 Maternal (inferred) - pathogenic g.? - del gene - BRCA2_000000 no sequence SGCG gene PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - - - - 1 Madhuri Hegde
-/. 1i c.1-8906G>A r.(=) p.(=) Parent #1 - benign g.23768928G>A g.23194789G>A - - SGCG_000016 - - - rs3794367 Germline - 0.51 - - - - - - - - - - - - - - - - - - - - -
-?/. 1i c.1-6638T>C r.(=) p.(=) Unknown - likely benign g.23771196T>C g.23197057T>C - - SGCG_000017 mother/father heterozygous - - rs3794364 Germline - - - - - DNA SEQ - - LGMD private email contact me for details - F no India - >25y - - - 1 Johan den Dunnen
+/. 1i_5i c.(-1+1)_(1-1)_(505+1_506-1)del r.(ex2_5del) p.? Parent #1 - pathogenic g.(23755215_23777833)_(23853618_23869553)del - - - SGCG_000076 - {PMID19056483:Wildforster 2009} - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? {PMID19056483:Wildforster 2009} - - - Germany - - - - - 1 Gabriele Dekomien
+/. 1i_5i c.(-1+1)_(1-1)_(505+1_506-1)del r.(ex2_5del) p.? Parent #1 - pathogenic g.(23755215_23777833)_(23853618_23869553)del - - - SGCG_000076 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 1i_5i c.(-1+1)_(1-1)_(505+1_506-1)del r.(ex2_5del) p.? Parent #1 - pathogenic g.(23755215_23777833)_(23853618_23869553)del - - - SGCG_000076 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 1i_5i c.(-1+1)_(1-1)_(505+1_506-1)del r.(del) p.? Parent #2 - pathogenic g.(23755215_23777833)_(23853618_23869553)del - - - SGCG_000076 - {PMID19056483:Wildforster 2009} - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? {PMID19056483:Wildforster 2009} - - - Germany - - - - - 1 Gabriele Dekomien
?/. 2 c.8G>A r.(?) p.(Arg3His) Parent #1 - VUS g.23777841G>A g.23203702G>A - - SGCG_000142 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 2 c.8G>A r.(?) p.(Arg3His) Parent #1 - VUS g.23777841G>A g.23203702G>A - - SGCG_000142 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
-?/. - c.8G>A r.(?) p.(Arg3His) Unknown - likely benign g.23777841G>A - SGCG(NM_000231.2):c.8G>A (p.(Arg3His)) - SGCG_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.13del r.(?) p.(Gln5Serfs*11) Parent #1 - pathogenic g.23777846del g.23203707del - - SGCG_000093 - PubMed: Trabelsi 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - no (France) - - - - - 1 Johan den Dunnen
?/. - c.17A>G r.(?) p.Tyr6Cys Unknown ACMG VUS g.23777850A>G g.23203711A>G - - SGCG_000138 not regarded causative for phenotype, no second variant detected in SGCG in patient - - rs148041867 Germline - - - - - DNA SEQ-NG - - - - - - F - Germany - - - - - 1 Andreas Laner
?/. 2 c.17A>G r.(?) p.(Tyr6Cys) Parent #1 - VUS g.23777850A>G g.23203711A>G - - SGCG_000138 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
?/. 2 c.31G>T r.(?) p.(Glu11*) Paternal (inferred) - VUS g.23777864G>T g.23203725G>T - - SGCG_000091 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - Turkey - - - - - 1 Pervin Dincer
?/. 2 c.31G>T r.(?) p.(Glu11*) Maternal (inferred) - VUS g.23777864G>T g.23203725G>T - - SGCG_000091 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - Turkey - - - - - 1 Pervin Dincer
+/. 2 c.87dup r.87dup p.Gly30Trpfs*30 Parent #1 - pathogenic g.23777920dup g.23203781dup - - SGCG_000006 - PubMed: McNally, PubMed: Duggan, OMIM:var0006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MD - PubMed: McNally, PubMed: Duggan, OMIM:var0006 - F - - United States/Italy - - - - 1 Johan den Dunnen
+/. 2 c.87dup r.87dup p.Gly30Trpfs*30 Parent #2 - pathogenic g.23777920dup g.23203781dup - - SGCG_000006 - PubMed: McNally, PubMed: Duggan, OMIM:var0006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MD - PubMed: McNally, PubMed: Duggan, OMIM:var0006 - F - - United States/Italy - - - - 1 Johan den Dunnen
+/. 2 c.87dup r.87dup p.Gly30Trpfs*30 Parent #1 - pathogenic g.23777920dup g.23203781dup - - SGCG_000006 - PubMed: Boito - - Germline - - - - - DNA, RNA RT-PCR, SSCA - - MD - PubMed: Boito adopted F - Italy - - - - - 1 Johan den Dunnen
+/. 2 c.87dup r.(?) p.(Gly30Trpfs*30) Parent #1 - pathogenic g.23777920dup g.23203781dup - - SGCG_000006 - PubMed: Trabelsi 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - no (France) - - - - - 1 Johan den Dunnen
+/. 2 c.87dup r.(?) p.(Gly30Trpfs*30) Parent #2 - pathogenic g.23777920dup g.23203781dup - - SGCG_000006 - PubMed: Trabelsi 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - no (France) - - - - - 1 Johan den Dunnen
+/. 2 c.87dup r.87dup p.Gly30Trpfs*30 Paternal (inferred) - pathogenic g.23777920dup g.23203781dup - - SGCG_000006 - - - - Germline - - - - - DNA, RNA DOVAM, SEQ - - MD - - has affected sister and cousins M - Canada Italian American >60y - - - 1 Elena Popescu
+/. 2 c.87dup r.87dup p.Gly30Trpfs*30 Maternal (inferred) - pathogenic g.23777920dup g.23203781dup - - SGCG_000006 - - - - Germline - - - - - DNA, RNA DOVAM, SEQ - - MD - - has affected sister and cousins M - Canada Italian American >60y - - - 1 Elena Popescu
+/. 2 c.87dup r.87dup p.Gly30Trpfs*30 Paternal (confirmed) - pathogenic g.23777920dup g.23203781dup - - SGCG_000006 - - - - Germline - - - - - DNA, RNA DOVAM, SEQ - - MD - - sister of 0019149 F - Canada white (Italy) - - - - 1 Elena Popescu
+/. 2 c.87dup r.87dup p.Gly30Trpfs*30 Maternal (confirmed) - pathogenic g.23777920dup g.23203781dup - - SGCG_000006 - - - - Germline - - - - - DNA, RNA DOVAM, SEQ - - MD - - sister of 0019149 F - Canada white (Italy) - - - - 1 Elena Popescu
+/. 2 c.87dup r.87dup p.Gly30Trpfs*30 Parent #1 - pathogenic g.23777920dup g.23203781dup - - SGCG_000006 - - - - Germline - - - - - DNA, RNA DOVAM, RT-PCR, SEQ - - MD - - cousin of patient 0019149 F - Canada white (Italy) 34y - - - 1 Elena Popescu
+/. 2 c.87dup r.87dup p.Gly30Trpfs*30 Parent #2 - pathogenic g.23777920dup g.23203781dup - - SGCG_000006 - - - - Germline - - - - - DNA, RNA DOVAM, RT-PCR, SEQ - - MD - - cousin of patient 0019149 F - Canada white (Italy) 34y - - - 1 Elena Popescu
+/. 2 c.87dup r.87dup P.Gly30Trpfs*30 Paternal (confirmed) - pathogenic g.23777920dup g.23203781dup - - SGCG_000006 - - - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MD - - second generation second cousin of 0019149, niece of 0019152 F - United States white (Italy) >24y - - - 1 Elena Popescu
+/. 2 c.87dup r.87dup P.Gly30Trpfs*30 Maternal (confirmed) - pathogenic g.23777920dup g.23203781dup - - SGCG_000006 - - - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MD - - second generation second cousin of 0019149, niece of 0019152 F - United States white (Italy) >24y - - - 1 Elena Popescu
+/. 2 c.87dup r.87dup p.Gly30Trpfsx30 Paternal (confirmed) - pathogenic g.23777920dup g.23203781dup - - SGCG_000006 - - - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MD - - first cousin of 0019149, brother of 0019226 M - United States white (Italy) 40y - - - 1 Elena Popescu
+/. 2 c.87dup r.87dup p.Gly30Trpfs*30 Maternal (confirmed) - pathogenic g.23777920dup g.23203781dup - - SGCG_000006 - - - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MD - - first cousin of 0019149, brother of 0019226 M - United States white (Italy) 40y - - - 1 Elena Popescu
+/. 2 c.87dup r.87dup p.Gly30Trpfs*30 Maternal (confirmed) - pathogenic g.23777920dup g.23203781dup - - SGCG_000006 - - - - Germline - - - - - DNA, RNA DOVAM, RT-PCR, SEQ - - MD - - first cousin of 0019149, sister of 0019225, daugther of 0019152 F - United States white (Italy) >44y - - - 1 Elena Popescu
+/. 2 c.87dup r.87dup P.Gly30Trpfs*30 Paternal (confirmed) - pathogenic g.23777920dup g.23203781dup - - SGCG_000006 - - - - Germline - - - - - DNA, RNA DOVAM, RT-PCR, SEQ - - MD - - first cousin of 0019149, sister of 0019225, daugther of 0019152 F - United States white (Italy) >44y - - - 1 Elena Popescu
+/. 2 c.87dup r.(?) p.(Gly30Trpfs*30) Parent #1 - pathogenic g.23777920dup g.23203781dup 87_88insT - SGCG_000006 - PubMed: Khadlikar 2009 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Khadlikar 2009 - - - India - - - - - 1 Johan den Dunnen
+/. 2 c.87dup r.(?) p.(Gly30Trpfs*30) Parent #2 - pathogenic g.23777920dup g.23203781dup 87_88insT - SGCG_000006 - PubMed: Khadlikar 2009 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Khadlikar 2009 - - - India - - - - - 1 Johan den Dunnen
+/. 2 c.87dup r.(?) p.(Gly30Trpfs*30) Paternal (inferred) - pathogenic g.23777920dup g.23203781dup - - SGCG_000006 - - - - Germline - - - - - DNA SEQ - - LGMD - - - F no Algeria - >20y - - - 1 Imane Dalichaouche
+/. 2 c.87dup r.(?) p.(Gly30Trpfs*30) Maternal (inferred) - pathogenic g.23777920dup g.23203781dup - - SGCG_000006 - - - - Germline - - - - - DNA SEQ - - LGMD - - - F no Algeria - >20y - - - 1 Imane Dalichaouche
+/. 2 c.87dup r.(?) p.Gly30Trpfsx30 Parent #2 - pathogenic g.23777920dup g.23203781dup - - SGCG_000006 - - - - Germline - - - - - DNA SEQ - - LGMD - - - F no Algeria - >6y - - - 1 Imane Dalichaouche
+/. 2 c.87dup r.(?) p.Gly30Trpfsx30 Parent #2 - pathogenic g.23777920dup g.23203781dup - - SGCG_000006 - - - - Germline - - - - - DNA SEQ - - LGMD - - - F no Algeria - >19y - - - 1 Imane Dalichaouche
+/. 2 c.87dup r.(?) p.Gly30Trpfsx30 Both (homozygous) - pathogenic g.23777920dup g.23203781dup - - SGCG_000006 - - - - Germline - - - - - DNA SEQ - - LGMD - - - M yes Algeria - >20y - - - 1 Imane Dalichaouche
+/. 2 c.87dup r.(?) p.Gly30Trpfsx30 Both (homozygous) - pathogenic g.23777920dup g.23203781dup - - SGCG_000006 - - - - Germline - - - - - DNA SEQ - - LGMD - - - M yes Algeria - >11y - - - 1 Imane Dalichaouche
+/. 2 c.87dup r.(?) p.Gly30Trpfsx30 Both (homozygous) - pathogenic g.23777920dup g.23203781dup - - SGCG_000006 - - - - Germline - - - - - DNA SEQ - - LGMD - - - F no Algeria - >11y - - - 1 Imane Dalichaouche
+/. 2 c.87dup r.(?) p.Gly30Trpfsx30 Both (homozygous) - pathogenic g.23777920dup g.23203781dup - - SGCG_000006 - - - - Germline - - - - - DNA SEQ - - LGMD - - - F no Algeria - >19y - - - 1 Imane Dalichaouche
+/. 2 c.87dup r.(?) p.(Gly30Trpfs*30) Parent #2 - pathogenic g.23777920dup g.23203781dup 87dupT - SGCG_000006 - PubMed: Dalichaouche 2017 - - Germline - - - - - DNA SEQ, PCRm - - MD 27759885-Fam11Pat15 PubMed: Dalichaouche 2017 - F no Algeria Algeria-north - - - - 2 Johan den Dunnen
+/. 2 c.87dup r.(?) p.(Gly30Trpfs*30) Parent #2 - pathogenic g.23777920dup g.23203781dup 87dupT - SGCG_000006 - PubMed: Dalichaouche 2017 - - Germline - - - - - DNA SEQ, PCRm - - MD 27759885-Fam11Pat21 PubMed: Dalichaouche 2017 - F no Algeria Algeria-north - - - - 1 Johan den Dunnen
+/. 2 c.87dup r.(?) p.(Gly30Trpfs*30) Parent #1 - pathogenic g.23777920dup g.23203781dup 87dupT - SGCG_000006 - PubMed: Dalichaouche 2017 - - Germline - - - - - DNA SEQ, PCRm - - MD 27759885-Fam32Pat44 PubMed: Dalichaouche 2017 - M yes Algeria Algeria-north - - - - 1 Johan den Dunnen
+/. 2 c.87dup r.(?) p.(Gly30Trpfs*30) Both (homozygous) - pathogenic g.23777920dup g.23203781dup 87dupT - SGCG_000006 - PubMed: Dalichaouche 2017 - - Germline - - - - - DNA SEQ, PCRm - - MD 27759885-Fam42Pat55 PubMed: Dalichaouche 2017 - M yes Algeria Algeria-north - - - - 1 Johan den Dunnen
+/. 2 c.87dup r.(?) p.(Gly30Trpfs*30) Both (homozygous) - pathogenic g.23777920dup g.23203781dup 87dupT - SGCG_000006 - PubMed: Dalichaouche 2017 - - Germline - - - - - DNA SEQ, PCRm - - MD 27759885-Fam47Pat60 PubMed: Dalichaouche 2017 - M yes Algeria Algeria-north - - - - 1 Johan den Dunnen
+/. 2 c.87dup r.(?) p.(Gly30Trpfs*30) Both (homozygous) - pathogenic g.23777920dup g.23203781dup 87dupT - SGCG_000006 - PubMed: Dalichaouche 2017 - - Germline - - - - - DNA SEQ, PCRm - - MD 27759885-Fam52Pat65 PubMed: Dalichaouche 2017 - F no Algeria Algeria-north - - - - 1 Johan den Dunnen
+/. 2 c.87dup r.(?) p.(Gly30Trpfs*30) Both (homozygous) - pathogenic g.23777920dup g.23203781dup 87dupT - SGCG_000006 - PubMed: Dalichaouche 2017 - - Germline - - - - - DNA SEQ, PCRm - - MD 27759885-Fam52Pat80 PubMed: Dalichaouche 2017 - F no Algeria Algeria-north - - - - 2 Johan den Dunnen
+/. 2 c.87dup r.(?) p.(Gly30Trpfs*30) Both (homozygous) - pathogenic g.23777920dup g.23203781dup 87dupT - SGCG_000006 - PubMed: Dalichaouche 2017 - - Germline - - - - - DNA SEQ, PCRm - - MD 27759885-Fam64Pat78 PubMed: Dalichaouche 2017 - F no Algeria Algeria-north - - - - 1 Johan den Dunnen
+/. 2 c.92G>A r.(?) p.(Trp31*) Both (homozygous) - pathogenic (recessive) g.23777925G>A g.23203786G>A - - SGCG_000059 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+?/. - c.92G>A r.(?) p.(Trp31Ter) Both (homozygous) ACMG likely pathogenic (recessive) g.23777925G>A g.23203786G>A - - SGCG_000059 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat116 PubMed: Chakravorty 2020 - F - India India - - - - 1 Johan den Dunnen
+/. 2 c.93G>A r.(?) p.(Trp31*) Both (homozygous) - pathogenic (recessive) g.23777926G>A g.23203787G>A - - SGCG_000043 - PubMed: Vermeer 2004 - - Germline - - - - - DNA SEQ - - LGMD PatC PubMed: Vermeer 2004 - M - Morocco - - - - - 1 Ieke Ginjaar
+/. - c.101G>A r.(?) p.(Arg34His) Both (homozygous) - pathogenic (recessive) g.23777934G>A g.23203795G>A - - SGCG_000188 430kb region of homozygosity PubMed: Yis 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - Mendeliome LGMD Pat9 PubMed: Yis 2018 - - - Turkey - - - - - 1 Johan den Dunnen
+?/. - c.101G>A r.(?) p.(Arg34His) Both (homozygous) ACMG likely pathogenic (recessive) g.23777934G>A g.23203795G>A - - SGCG_000188 ACMG: PM3, PP3_MOD, PM2_SUP, PP4 PMID: 8968757, 30838351, 9192266 - - Germline ? - - - - DNA SEQ-NG-I - - LGMDR5;LGMD2C 214351 - - M likely Turkey - - - - - 1 Andreas Laner
-/. 2 c.112T>C r.(=) p.(=) Parent #1 - benign g.23777945T>C g.23203806T>C 114 (L38L) - SGCG_000030 - PubMed: McNally 1996 - rs1800349 Germline - - - - - DNA SSCA - - ? - PubMed: McNally 1996 - - - Brazil - - - - - 1 Johan den Dunnen
?/. 2 c.124_126del r.(?) p.(Leu44del) Parent #1 - VUS g.23777957_23777959del g.23203818_23203820del 124_126delCTT (Leu41del) - SGCG_000101 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 2 c.124_126del r.(?) p.(Leu44del) Parent #1 - VUS g.23777957_23777959del g.23203818_23203820del - - SGCG_000101 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 2 c.124_126del r.(?) p.(Leu44del) Parent #1 - VUS g.23777957_23777959del g.23203818_23203820del - - SGCG_000101 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 2 c.124_126del r.(?) p.(Leu44del) Parent #1 - VUS g.23777957_23777959del g.23203818_23203820del - - SGCG_000101 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 2 c.124_126del r.(?) p.(Leu44del) Paternal (confirmed) - VUS g.23777957_23777959del g.23203818_23203820del 124_126delTTC (Leu41del) - SGCG_000101 - PubMed: Giugliano 2018 - - Germline - - - - - DNA SEQ-NG - - LGMD Patient XI PubMed: Giugliano 2018 - M - Italy - - - - - 1 Teresa Giugliano
+/. 2 c.128T>G r.128u>g p.Leu43* Parent #1 - pathogenic g.23777961T>G g.23203822T>G - - SGCG_000053 - PubMed: Boito - - Germline - - - - - DNA, RNA RT-PCR, SSCA - - LGMD - PubMed: Boito - F - Italy - - - - - 1 Johan den Dunnen
?/. 2 c.142G>A r.(?) p.(Val48Ile) Parent #1 - VUS g.23777975G>A g.23203836G>A - - SGCG_000143 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
?/. 2 c.157C>T r.(?) p.(Leu53Phe) Parent #1 - VUS g.23777990C>T g.23203851C>T - - SGCG_000144 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
?/. 2 c.158T>C r.(?) p.(Leu53Pro) Parent #1 - VUS g.23777991T>C g.23203852T>C - - SGCG_000079 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 2 c.158T>C r.(?) p.(Leu53Pro) Parent #1 - VUS g.23777991T>C g.23203852T>C - - SGCG_000079 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 2 c.158T>C r.(?) p.(Leu53Pro) Parent #2 - VUS g.23777991T>C g.23203852T>C - - SGCG_000079 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 2 c.158T>C r.(?) p.(Leu53Pro) Parent #1 - pathogenic g.23777991T>C g.23203852T>C - - SGCG_000079 - PubMed: Klinge 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Klinge 2008 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 2 c.158T>C r.(?) p.(Leu53Pro) Parent #2 - pathogenic g.23777991T>C g.23203852T>C - - SGCG_000079 - PubMed: Klinge 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Klinge 2008 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 2 c.158T>C r.(?) p.(Leu53Pro) Parent #1 - pathogenic g.23777991T>C g.23203852T>C - - SGCG_000079 - PubMed: Klinge 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Klinge 2008 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 2 c.158T>C r.(?) p.(Leu53Pro) Parent #2 - pathogenic g.23777991T>C g.23203852T>C - - SGCG_000079 - PubMed: Klinge 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Klinge 2008 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 2 c.158T>C r.(?) p.(Leu53Pro) Parent #1 - pathogenic g.23777991T>C g.23203852T>C - - SGCG_000079 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 2 c.161C>A r.(?) p.(Thr54Lys) Parent #1 - VUS g.23777994C>A g.23203855C>A - - SGCG_000145 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 2 c.161C>G r.(?) p.(Thr54Arg) Parent #1 - VUS g.23777994C>G g.23203855C>G 161C>G;181A>T - SGCG_000141 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.181A>T r.(?) p.(Met61Leu) Parent #1 - VUS g.23778014A>T g.23203875A>T 161C>G;181A>T - SGCG_000140 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 2 c.190T>C r.(?) p.(Ser64Pro) Parent #1 - VUS g.23778023T>C g.23203884T>C - - SGCG_000146 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
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