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.

948 entries on 10 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_7i c.-36_(956+1_957-1)dup r.? p.? Maternal (confirmed) ACMG pathogenic (recessive) g.(?_48243366)_(48247713_48248000)dup g.(?_50166005)_50170352_50170639)dup duplication ex1-7 - SGCA_000204 ACMG PVS1, PM3, PP1, PP4 PubMed: Xie 2019 - - Germline - - - 0 - DNA MLPA, SEQ, SEQ-NG - candidate gene panel LGMD P10 PubMed: Xie 2019 - F - China - - 0 - - 1 Johan den Dunnen
?/. 5' UTR c.-5C>G r.(?) p.(=) Parent #1 - VUS g.48243397C>G g.50166036C>G - - SGCA_000140 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - 0 - - 1 Madhuri Hegde
+/. _1_10_ c.(?_-1)_(*1_?)del r.0? p.0? Parent #2 - pathogenic g.(?_48243401)_(48252799_?)del - - - SGCA_000000 - PubMed: Duggan - - Germline - - - 0 - DNA, RNA RT-PCR, SSCA - - LGMD - PubMed: Duggan - - - - United States/Italy - 0 - - 1 Johan den Dunnen
+/. 3 c.(157+1_158-1)_(312+1_313-1)? r.158_312del p.Ala53Glyfs*10 Parent #2 - pathogenic g.(48244849_48244942)_(48245098_48245307)? - - - SGCA_000000 - PubMed: Passos-Bueno - - Germline - - NlaIV- 0 - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Passos-Bueno - - - Brazil - - 0 - - 1 Johan den Dunnen
-/. 6i c.747+161_747+192AC[15_21] r.(=) p.(=) Parent #1 - benign g.48246776_48246807AC[15_21] g.50169415_50169446AC[15_21] - - SGCA_000055 - PubMed: Roberds - - Germline - - - 0 - DNA PCR - - ? - PubMed: Roberds marker D17S1319 (GDB) - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.1A>G r.(?) p.0? Both (homozygous) ACMG pathogenic (recessive) g.48243402A>G g.50166041A>G - - SGCA_000208 ACMG PVS1, PM2, PP1, PP3, PP4 PubMed: Xie 2019 - - Germline - - - 0 - DNA SEQ, SEQ-NG - candidate gene panel LGMD P16 PubMed: Xie 2019 - F - China - - 0 - - 1 Johan den Dunnen
+?/. - c.2T>C r.(?) p.0? Unknown - likely pathogenic g.48243403T>C g.50166042T>C - - SGCA_000223 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 1 Johan den Dunnen
?/. 1 c.34G>A r.(?) p.(Val12Met) Parent #1 - VUS g.48243435G>A g.50166074G>A - - SGCA_000141 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 1 c.34G>A r.(?) p.(Val12Met) Parent #1 - VUS g.48243435G>A g.50166074G>A - - SGCA_000141 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 1i c.37+1G>C r.spl? p.(?) Parent #2 - pathogenic g.48243439G>C g.50166078G>C IVS1+G>C - SGCA_000083 - - - - Germline - - - 0 - DNA SEQ - - LGMD ? - - - - Germany - - 0 - - 1 Gabriele Dekomien
+/. 1i c.37+2C>G r.spl p.? Parent #1 - pathogenic g.48243440C>G g.50166079C>G - - SGCA_000142 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 1 c.(37+3A>T) r.spl p.(?) Parent #1 - pathogenic g.48243441A>T g.50166080A>T IVS1 splice - SGCA_000029 - PubMed: Eymard 1997 - - Germline - - - 0 - DNA DGGE - - LGMD - PubMed: Eymard 1997 - F - (Morocco);(Algeria) Africa N. >11y 0 - - 1 Johan den Dunnen
+/. 1 c.(37+3A>T) r.spl p.(?) Parent #2 - pathogenic g.48243441A>T g.50166080A>T IVS1 splice - SGCA_000029 - PubMed: Eymard 1997 - - Germline - - - 0 - DNA DGGE - - LGMD - PubMed: Eymard 1997 - F - (Morocco);(Algeria) Africa N. >11y 0 - - 1 Johan den Dunnen
?/. 1i c.37+3A>T r.spl? p.(?) Unknown - VUS g.48243441A>T g.50166080A>T IVS1+3A>T - SGCA_000029 - - - - Germline - - - 0 - DNA SEQ - - LGMD ? - - - - Germany - - 0 - - 1 Gabriele Dekomien
?/. 1i c.37+3A>T r.spl? p.(?) Unknown - VUS g.48243441A>T g.50166080A>T IVS1+3A>T - SGCA_000029 - - - - Germline - - - 0 - DNA SEQ - - LGMD ? - - - - Germany - - 0 - - 1 Gabriele Dekomien
+/. 1i c.37+3A>T r.spl p.(?) Parent #2 - pathogenic g.48243441A>T g.50166080A>T IVS1+3A>T - SGCA_000029 aberrant splicing PubMed: Carrie 1997 - - Germline - - MaeI+ 0 - DNA, RNA DGGE, RT-PCR - - LGMD - PubMed: Carrie 1997 - - - Algeria - - 0 - - 1 Johan den Dunnen
+/. 1i c.37+3A>T r.spl? p.(?) Parent #1 - pathogenic g.48243441A>T g.50166080A>T IVS1+3A>T - SGCA_000029 aberrant splicing PubMed: Carrie 1997 - - Germline - - MaeI+ 0 - DNA, RNA DGGE, RT-PCR - - LGMD - PubMed: Carrie 1997 - - - Algeria - - 0 - - 1 Johan den Dunnen
+/. 1i c.37+3A>T r.spl? p.? Parent #2 - pathogenic g.48243441A>T g.50166080A>T - - SGCA_000029 - PubMed: Trabelsi 2008 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - - (France) - - 0 - - 2 Johan den Dunnen
+/. 1i c.37+3A>T r.(spl?) p.? Parent #1 - pathogenic g.48243441A>T g.50166080A>T - - SGCA_000029 - PubMed: Trabelsi 2008 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - yes (France) - - 0 - - 2 Johan den Dunnen
+/. 1i c.37+3A>T r.spl? p.? Parent #2 - pathogenic g.48243441A>T g.50166080A>T - - SGCA_000029 - PubMed: Trabelsi 2008 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - yes (France) - - 0 - - 2 Johan den Dunnen
?/. 1i c.37+6T>C r.(spl?) p.(?) Paternal (inferred) - VUS g.48243444T>C g.50166083T>C - - SGCA_000117 father and mother heterozygous - - - Germline - - - 0 - DNA SEQ - - LGMD private email - - F no India - >25y 0 - - 1 Johan den Dunnen
?/. 1i c.37+6T>C r.(spl?) p.(?) Maternal (inferred) - VUS g.48243444T>C g.50166083T>C - - SGCA_000117 father and mother heterozygous - - - Germline - - - 0 - DNA SEQ - - LGMD private email - - F no India - >25y 0 - - 1 Johan den Dunnen
?/. 1i c.37+6T>C r.(?) p.(?) Parent #1 - VUS g.48243444T>C g.50166083T>C - - SGCA_000117 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
-/. 1i c.37+23G>A r.(?) p.(=) Unknown - benign g.48243461G>A g.50166100G>A - - SGCA_000112 - from website {DBsub-Emory} - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 1i c.37+23G>A r.(?) p.(=) Paternal (inferred) - likely benign g.48243461G>A g.50166100G>A - - SGCA_000112 father homozygous, mother heterozygous - - - Germline - - - 0 - DNA SEQ - - LGMD private email - - F no India - >25y 0 - - 1 Johan den Dunnen
-?/. 1i c.37+23G>A r.(?) p.(=) Maternal (inferred) - likely benign g.48243461G>A g.50166100G>A - - SGCA_000112 father homozygous, mother heterozygous - - - Germline - - - 0 - DNA SEQ - - LGMD private email - - F no India - >25y 0 - - 1 Johan den Dunnen
?/. 1i c.37+23G>A r.(?) p.(=) Unknown - VUS g.48243461G>A g.50166100G>A - - SGCA_000112 - - - - Unknown - - - 0 - DNA SEQ - - LGMD-2C - - - M ? - white - 0 - - 1 Marina Fanin
-/. 1i c.37+23G>T r.(=) p.(=) Parent #1 - benign g.48243461G>T g.50166100G>T - - SGCA_000062 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Netherlands - - 0 - - 2 Ieke Ginjaar
-/. 1i c.37+27A>G r.(=) p.(=) Parent #1 - benign g.48243465A>G g.50166104A>G IVS1+27G>A - SGCA_000043 - PubMed: Carrie 1997 - - Germline - 6/128 AciI- 0 - DNA DGGE - - ? - PubMed: Carrie 1997 - - - - - - 0 - - 6 Johan den Dunnen
-/. 1i c.37+27A>G r.(=) p.(=) Parent #1 - benign g.48243465A>G g.50166104A>G - - SGCA_000043 - {DB: Berne} - - Germline - 0.05 AciI- 0 - DNA DGGE - - ? - {DB: Berne} found once in healthy control - - Germany - - 0 - - 1 Johan den Dunnen
-?/. 1i c.37+66C>T r.(=) p.(=) Paternal (inferred) - likely benign g.48243504C>T g.50166143C>T - - SGCA_000061 parents homozygous - - rs9911548 Germline - - - 0 - DNA SEQ - - LGMD private email - - F no India - >25y 0 - - 1 Johan den Dunnen
-?/. 1i c.37+66C>T r.(=) p.(=) Maternal (inferred) - likely benign g.48243504C>T g.50166143C>T - - SGCA_000061 parents homozygous - - rs9911548 Germline - - - 0 - DNA SEQ - - LGMD private email - - F no India - >25y 0 - - 1 Johan den Dunnen
-/. - c.37+66C>T r.(=) p.(=) Unknown - benign g.48243504C>T g.50166143C>T SGCA(NM_000023.2):c.37+66C>T - SGCA_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1i c.38-46G>C r.(?) p.(=) Unknown - VUS g.48244683G>C g.50167322G>C - - SGCA_000113 - from website {DBsub-Emory} - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.62C>T r.(?) p.(Thr21Ile) Unknown - likely benign g.48244753C>T g.50167392C>T SGCA(NM_000023.2):c.62C>T (p.T21I) - SGCA_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.62C>T r.(?) p.(Thr21Ile) Parent #1 - VUS g.48244753C>T g.50167392C>T - - SGCA_000131 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.73C>T r.(?) p.(Gln25*) Parent #2 - pathogenic g.48244764C>T g.50167403C>T - - SGCA_000069 - PubMed: Gouveia 2006 - - Germline - - - 0 - DNA SEQ, PCRm - - LGMD - PubMed: Gouveia 2006 - - - Brazil - >12y 0 - - 1 Johan den Dunnen
+/. 2 c.73C>T r.(?) p.(Gln25*) Parent #1 - pathogenic g.48244764C>T g.50167403C>T - - SGCA_000069 - PubMed: Gouveia 2006 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Gouveia 2006 submitted by E-mail (patient) F no Belgium - - 0 - - 1 Johan den Dunnen
?/. 2 c.80C>T r.(?) p.(Thr27Met) Parent #1 - VUS g.48244771C>T g.50167410C>T - - SGCA_000143 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 2 c.85C>T r.(?) p.(His29Tyr) Parent #1 - VUS g.48244776C>T g.50167415C>T - - SGCA_000144 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.86dup r.86dup p.His29Glnfs*15 Parent #2 - pathogenic g.48244777dup g.50167416dup - - SGCA_000053 - PubMed: Boito - - Germline - - - 0 - DNA, RNA RT-PCR, SSCA - - LGMD - PubMed: Boito - M - Italy - - 0 - - 1 Johan den Dunnen
+/. 2 c.86dup r.(?) p.(His29Glnfs*15) Parent #1 - pathogenic g.48244777dup g.50167416dup - - SGCA_000053 - PubMed: Ramelli 2006 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Ramelli 2006 - F - Switzerland - >43y 0 - - 1 Johan den Dunnen
+/. 2 c.86dup r.(?) p.(His29Glnfs*15) Parent #2 - pathogenic g.48244777dup g.50167416dup - - SGCA_000053 - PubMed: Ramelli 2006 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Ramelli 2006 - F - Switzerland - >43y 0 - - 1 Johan den Dunnen
+/. 2 c.86dup r.(?) p.(His29Glnfs*15) Parent #1 - pathogenic g.48244777dup g.50167416dup - - SGCA_000053 - PubMed: Trabelsi 2008 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - no (France) - - 0 - - 1 Johan den Dunnen
+/. 2 c.86dup r.(?) p.(His29Glnfs*15) Parent #1 - pathogenic g.48244777dup g.50167416dup - - SGCA_000053 - PubMed: Trabelsi 2008 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - ? (France) - - 0 - - 1 Johan den Dunnen
+/. 2 c.86dup r.(?) p.(His29Glnfs*15) Unknown - pathogenic g.48244777dup g.50167416dup 86insA - SGCA_000053 - - - - Unknown - - - 0 - DNA SEQ - - LGMD-2C - - - M ? - white - 0 - - 1 Marina Fanin
?/. 2 c.88C>A r.(?) p.(Pro30Thr) Parent #1 - VUS g.48244779C>A g.50167418C>A - - SGCA_000063 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Ieke Ginjaar
?/. 2 c.88C>A r.(?) p.(Pro30Thr) Parent #2 - VUS g.48244779C>A g.50167418C>A - - SGCA_000063 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Ieke Ginjaar
+/. 2 c.88_112del r.(?) p.(Pro30Thrfs*9) Parent #1 - pathogenic g.48244779_48244803del g.50167418_50167442del 87_111del - SGCA_000095 - PubMed: Trabelsi 2008 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - no (France) - - 0 - - 1 Johan den Dunnen
?/. 2 c.89C>T r.(?) p.(Pro30Leu) Parent #1 - VUS g.48244780C>T g.50167419C>T - - SGCA_000030 - PubMed: Carrie 1997 - - Germline - - - 0 - DNA PCRm, DGGE - - ? - PubMed: Carrie 1997 NOTE - Leu normal amino acid in mouse - - Germany - - 0 - - 1 Johan den Dunnen
?/. 2 c.89C>T r.(?) p.(Pro30Leu) Parent #1 - VUS g.48244780C>T g.50167419C>T - - SGCA_000030 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.92T>C r.92u>c p.Leu31Pro Parent #1 - pathogenic g.48244783T>C g.50167422T>C - - SGCA_000017 - PubMed: Duggan - - Germline - - - 0 - DNA, RNA RT-PCR, SSCA - - LGMD - PubMed: Duggan - - - - United States/Italy - 0 - - 1 Johan den Dunnen
+/. 2 c.92T>C r.(?) p.(Leu31Pro) Parent #2 - pathogenic g.48244783T>C g.50167422T>C - - SGCA_000017 - PubMed: Moreira - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Moreira - F - Brazil - - 0 - - 1 Johan den Dunnen
+/. 2 c.92T>C r.(?) p.(Leu31Pro) Parent #1 - pathogenic g.48244783T>C g.50167422T>C - - SGCA_000017 - PubMed: Guglieri 2007 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - F - Italy - >11y 0 - - 1 Johan den Dunnen
+/. 2 c.92T>C r.(?) p.(Leu31Pro) Parent #1 - pathogenic g.48244783T>C g.50167422T>C - - SGCA_000017 - PubMed: Trabelsi 2008 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - no (France) - - 0 - - 1 Johan den Dunnen
+/. 2 c.92T>C r.(?) p.(Leu31Pro) Parent #1 - pathogenic g.48244783T>C g.50167422T>C - - SGCA_000017 - PubMed: Trabelsi 2008 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - no (France) - - 0 - - 1 Johan den Dunnen
+/. 2 c.92T>C r.(?) p.(Leu31Pro) Parent #2 - pathogenic g.48244783T>C g.50167422T>C - - SGCA_000017 - PubMed: Trabelsi 2008 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - no (France) - - 0 - - 1 Johan den Dunnen
+/. 2 c.92T>C r.(?) p.(Leu31Pro) Parent #1 - pathogenic g.48244783T>C g.50167422T>C - - SGCA_000017 - - - - Germline - - - 0 - DNA PCR, SEQ - - LGMD - - - M - United States white - 0 - - 1 Tom Winder
+?/. - c.92T>C r.(?) p.(Leu31Pro) Unknown - likely pathogenic g.48244783T>C g.50167422T>C - - SGCA_000017 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.95T>C r.(?) p.(Val32Ala) Paternal (confirmed) - pathogenic (recessive) g.48244786T>C g.50167425T>C - - SGCA_000209 - PubMed: Xie 2019 - - Germline - - - 0 - DNA SEQ, SEQ-NG - candidate gene panel LGMD P4 PubMed: Xie 2019 - F - China - - 0 - - 1 Johan den Dunnen
+/. 2 c.95T>C r.(?) p.(Val32Ala) Paternal (confirmed) - pathogenic (recessive) g.48244786T>C g.50167425T>C - - SGCA_000209 - PubMed: Xie 2019 - - Germline - - - 0 - DNA SEQ, SEQ-NG - candidate gene panel LGMD P7 PubMed: Xie 2019 - M - China - - 0 - - 1 Johan den Dunnen
+/. 2 c.95T>C r.(?) p.(Val32Ala) Paternal (confirmed) - pathogenic (recessive) g.48244786T>C g.50167425T>C - - SGCA_000209 - PubMed: Xie 2019 - - Germline - - - 0 - DNA SEQ, SEQ-NG - candidate gene panel LGMD P17 PubMed: Xie 2019 - F - China - - 0 - - 1 Johan den Dunnen
+/. - c.95T>C r.(?) p.(Val32Ala) Paternal (confirmed) - pathogenic (recessive) g.48244786T>C g.50167425T>C - - SGCA_000209 - PubMed: Yu 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P21 PubMed: Yu 2017 analysis 180 LGMD patients F - China - - 0 - - 1 Johan den Dunnen
+/. - c.95T>C r.(?) p.(Val32Ala) Paternal (confirmed) - pathogenic (recessive) g.48244786T>C g.50167425T>C - - SGCA_000209 - PubMed: Yu 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P102 PubMed: Yu 2017 analysis 180 LGMD patients M - China - - 0 - - 1 Johan den Dunnen
?/. 2 c.100C>T r.(?) p.(Arg34Cys) Parent #1 - VUS g.48244791C>T g.50167430C>T - - SGCA_000031 - - - - Germline - - - 0 - DNA SEQ - - LGMD ? - - - - Germany - - 0 - - 1 Gabriele Dekomien
?/. 2 c.100C>T r.(?) p.(Arg34Cys) Parent #1 - VUS g.48244791C>T g.50167430C>T - - SGCA_000031 - - - - Germline - - - 0 - DNA SEQ - - LGMD ? - - - - Germany - - 0 - - 1 Gabriele Dekomien
+/. 2 c.100C>T r.(?) p.(Arg34Cys) Parent #1 - pathogenic g.48244791C>T g.50167430C>T - - SGCA_000031 - - - - Germline - - - 0 - DNA SEQ - - LGMD ? - - - - Germany - - 0 - - 1 Gabriele Dekomien
+/. 2 c.100C>T r.(?) p.(Arg34Cys) Parent #1 - pathogenic g.48244791C>T g.50167430C>T - - SGCA_000031 - PubMed: Carrie 1997 - - Germline - - HaeIII- 0 - DNA DGGE - - LGMD - PubMed: Carrie 1997 - - - Algeria - - 0 - - 1 Johan den Dunnen
+/. 2 c.100C>T r.(?) p.(Arg34Cys) Parent #2 - pathogenic g.48244791C>T g.50167430C>T - - SGCA_000031 - PubMed: Carrie 1997 - - Germline - - HaeIII- 0 - DNA DGGE - - LGMD - PubMed: Carrie 1997 - - - Algeria - - 0 - - 1 Johan den Dunnen
+/. 2 c.100C>T r.(?) p.(Arg34Cys) Parent #1 - pathogenic g.48244791C>T g.50167430C>T - - SGCA_000031 - PubMed: Eymard 1997 - - Germline - - - 0 - DNA DGGE - - LGMD - PubMed: Eymard 1997 - M - (Morocco);(Algeria) Africa N. >10y 0 - - 1 Johan den Dunnen
+/. 2 c.100C>T r.(?) p.(Arg34Cys) Parent #2 - pathogenic g.48244791C>T g.50167430C>T - - SGCA_000031 - PubMed: Eymard 1997 - - Germline - - - 0 - DNA DGGE - - LGMD - PubMed: Eymard 1997 - M - (Morocco);(Algeria) Africa N. >10y 0 - - 1 Johan den Dunnen
?/. 2 c.100C>T r.(?) p.(Arg34Cys) Both (homozygous) - VUS g.48244791C>T g.50167430C>T - - SGCA_000031 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.100C>T r.(?) p.(Arg34Cys) Parent #1 - VUS g.48244791C>T g.50167430C>T - - SGCA_000031 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+?/. - c.100C>T r.(?) p.(Arg34Cys) Unknown - likely pathogenic g.48244791C>T g.50167430C>T - - SGCA_000031 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.101G>A r.(?) p.(Arg34His) Unknown - pathogenic g.48244792G>A g.50167431G>A - - SGCA_000006 - from website {DBsub-Emory} - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.101G>A r.(?) p.(Arg34His) Parent #1 - VUS g.48244792G>A g.50167431G>A - - SGCA_000006 - - - - Germline - - - 0 - DNA SEQ - - LGMD ? - - - - Germany - - 0 - - 1 Gabriele Dekomien
?/. 2 c.101G>A r.(?) p.(Arg34His) Parent #1 - VUS g.48244792G>A g.50167431G>A - - SGCA_000006 - - - - Germline - - - 0 - DNA SEQ - - LGMD ? - - - - Germany - - 0 - - 1 Gabriele Dekomien
+/. 2 c.101G>A r.(?) p.(Arg34His) Parent #1 - pathogenic g.48244792G>A g.50167431G>A - - SGCA_000006 - - - - Germline - - - 0 - DNA SEQ - - LGMD ? - - - - Germany - - 0 - - 1 Gabriele Dekomien
+/. 2 c.101G>A r.(?) p.(Arg34His) Parent #2 - pathogenic g.48244792G>A g.50167431G>A - - SGCA_000006 - - - - Germline - - - 0 - DNA DHPLC, SEQ, MLPA - - LGMD ? - - - - Germany - - 0 - - 1 Gabriele Dekomien
+/. 2 c.101G>A r.(?) p.(Arg34His) Parent #1 - pathogenic g.48244792G>A g.50167431G>A - - SGCA_000006 - - - - Germline - - - 0 - DNA SEQ - - LGMD ? - - - - Germany - - 0 - - 1 Gabriele Dekomien
+/. 2 c.101G>A r.(?) p.(Arg34His) Parent #1 - pathogenic g.48244792G>A g.50167431G>A - - SGCA_000006 - PubMed: Piccolo, PubMed: CarriÈ, PubMed: Eymard 1997 - - Germline - - NlaIII+ 0 - DNA DGGE - - LGMD-2C - PubMed: Eymard 1997 - F no Italy Europe - 0 - - 1 Johan den Dunnen
+/. 2 c.101G>A r.(?) p.(Arg34His) Parent #2 - pathogenic g.48244792G>A g.50167431G>A - - SGCA_000006 - PubMed: Piccolo, PubMed: CarriÈ, PubMed: Eymard 1997 - - Germline - - NlaIII+ 0 - DNA DGGE - - LGMD-2C - PubMed: Eymard 1997 - F no Italy Europe - 0 - - 1 Johan den Dunnen
+/. 2 c.101G>A r.101g>a p.Arg34His Parent #1 - pathogenic g.48244792G>A g.50167431G>A - - SGCA_000006 - PubMed: Duggan - - Germline - - NlaIII+ 0 - DNA, RNA RT-PCR, SSCA - - LGMD - PubMed: Duggan - - - - Europe - 0 - - 1 Johan den Dunnen
+/. 2 c.101G>A r.101g>a p.Arg34His Parent #1 - pathogenic g.48244792G>A g.50167431G>A - - SGCA_000006 - PubMed: Duggan - - Germline - - NlaIII+ 0 - DNA, RNA RT-PCR - - LGMD - PubMed: Duggan - - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.101G>A r.101g>a p.Arg34His Parent #2 - pathogenic g.48244792G>A g.50167431G>A - - SGCA_000006 - PubMed: Duggan - - Germline - - NlaIII+ 0 - DNA, RNA RT-PCR - - LGMD - PubMed: Duggan - - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.101G>A r.(?) p.(Arg34His) Parent #1 - pathogenic g.48244792G>A g.50167431G>A - - SGCA_000006 - PubMed: Carrie 1997 - - Germline - - NlaIII+ 0 - DNA DGGE - - LGMD - PubMed: Carrie 1997 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 2 c.101G>A r.(?) p.(Arg34His) Parent #1 - pathogenic g.48244792G>A g.50167431G>A - - SGCA_000006 - PubMed: Carrie 1997 - - Germline - - NlaIII+ 0 - DNA DGGE - - LGMD - PubMed: Carrie 1997 - - - France - - 0 - - 1 Johan den Dunnen
+/. 2 c.101G>A r.(?) p.(Arg34His) Parent #1 - pathogenic g.48244792G>A g.50167431G>A - - SGCA_000006 - PubMed: Trabelsi 2008 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - - (France) - - 0 - - 2 Johan den Dunnen
+/. 2 c.101G>A r.(?) p.(Arg34His) Parent #1 - pathogenic g.48244792G>A g.50167431G>A - - SGCA_000006 - PubMed: Trabelsi 2008 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - no (France) - - 0 - - 1 Johan den Dunnen
+/. 2 c.101G>A r.(?) p.(Arg34His) Parent #2 - pathogenic g.48244792G>A g.50167431G>A - - SGCA_000006 - PubMed: Eymard 1997, PubMed: Crosbie 2000 - - Germline - - NlaIII+ 0 - DNA DGGE - - BMD/DMD - PubMed: Eymard 1997, PubMed: Crosbie 2000 - F no (Italy);(France) Europe >21y 0 - - 1 Johan den Dunnen
+/. 2 c.101G>A r.(?) p.(Arg34His) Both (homozygous) - pathogenic (recessive) g.48244792G>A g.50167431G>A - - SGCA_000006 - - - - Germline - - - 0 - DNA SEQ - - LGMD - - - - - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. - c.101G>A r.(?) p.(Arg34His) Unknown - pathogenic g.48244792G>A g.50167431G>A SGCA(NM_000023.2):c.101G>A (p.(Arg34His)) - SGCA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.101G>A r.(?) p.(Arg34His) Unknown - pathogenic g.48244792G>A g.50167431G>A SGCA(NM_000023.2):c.101G>A (p.(Arg34His)) - SGCA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.101G>A r.(?) p.(Arg34His) Both (homozygous) ACMG pathogenic g.48244792G>A g.50167431G>A - - SGCA_000006 ACMG PM2, PP1-S, PM3, PP1-M, PP1, PP2, PP3, PP4 PubMed: Monies 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 759-gene panel neurological disorders LGMD Fam29 / 11R-00463 PubMed: Monies 2016 759-gene panel analysis 50 patients suspected of LGMD - - Saudi Arabia - - 0 - - 1 Johan den Dunnen
+/. 2 c.101G>A r.(?) p.(Arg34His) Maternal (confirmed) - pathogenic (recessive) g.48244792G>A g.50167431G>A - - SGCA_000006 - PubMed: Xie 2019 - - Germline - - - 0 - DNA SEQ, SEQ-NG - candidate gene panel LGMD P1 PubMed: Xie 2019 - M - China - - 0 - - 1 Johan den Dunnen
+/. - c.101G>A r.(?) p.(Arg34His) Parent #1 - pathogenic (recessive) g.48244792G>A g.50167431G>A - - SGCA_000006 - PubMed: Ten Dam 2019 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - F - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. - c.101G>A r.(?) p.(Arg34His) Parent #1 - pathogenic (recessive) g.48244792G>A g.50167431G>A - - SGCA_000006 - PubMed: Ten Dam 2019 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. - c.101G>A r.(?) p.(Arg34His) Both (homozygous) - pathogenic (recessive) g.48244792G>A g.50167431G>A - - SGCA_000006 - PubMed: Yis 2018 - - Germline - - - 0 - DNA SEQ - - LGMD Pat18/19 PubMed: Yis 2018 family, 2 affected - - Turkey - - 0 - - 2 Johan den Dunnen
+/. 2 c.101G>T r.(?) p.(Arg34Leu) Both (homozygous) - pathogenic g.48244792G>T g.50167431G>T - - SGCA_000091 - PubMed: Liang 2016, Journal: Liang 2016 - - Germline yes - - 0 - DNA PCR, SEQ-NG - - LGMD-2D 26944168-FamPatV2 PubMed: Liang 2016, Journal: Liang 2016 5-generation family, 5 affecteds (F, 4M), 13 unaffected heterozygous carriers M no Taiwan Taiwan >17y 0 - - 5 Jamie Zeegers
+/. 2 c.101G>T r.(?) p.(Arg34Leu) Both (homozygous) - pathogenic g.48244792G>T g.50167431G>T - - SGCA_000091 - PubMed: Liang 2016, Journal: Liang 2016 - - Germline yes - - 0 - DNA PCR, SEQ-NG - - LGMD-2D 26944168-FamPatV1 PubMed: Liang 2016, Journal: Liang 2016 - F no Taiwan Taiwan >19y 0 - - 1 Jamie Zeegers
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