Unique variants in the SGCA gene

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.

226 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. 1 _1_7i c.-36_(956+1_957-1)dup r.? p.? 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 - - - - - Johan den Dunnen
?/. 1 5' UTR c.-5C>G r.(?) p.(=) - VUS g.48243397C>G g.50166036C>G - - SGCA_000140 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 _1_10_ c.(?_-1)_(*1_?)del r.0? p.0? - pathogenic g.(?_48243401)_(48252799_?)del - - - SGCA_000000 - PubMed: Duggan - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.(157+1_158-1)_(312+1_313-1)? r.158_312del p.Ala53Glyfs*10 - pathogenic g.(48244849_48244942)_(48245098_48245307)? - - - SGCA_000000 - PubMed: Passos-Bueno - - Germline - - NlaIV- - - Johan den Dunnen
-/. 1 6i c.747+161_747+192AC[15_21] r.(=) p.(=) - benign g.48246776_48246807AC[15_21] g.50169415_50169446AC[15_21] - - SGCA_000055 - PubMed: Roberds - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.1A>G r.(?) p.0? ACMG pathogenic (recessive) g.48243402A>G g.50166041A>G - - SGCA_000208 ACMG PVS1, PM2, PP1, PP3, PP4 PubMed: Xie 2019 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.2T>C r.(?) p.0? - likely pathogenic g.48243403T>C g.50166042T>C - - SGCA_000223 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - Johan den Dunnen
?/. 2 1 c.34G>A r.(?) p.(Val12Met) - VUS g.48243435G>A g.50166074G>A - - SGCA_000141 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 1i c.37+1G>C r.spl? p.(?) - pathogenic g.48243439G>C g.50166078G>C IVS1+G>C - SGCA_000083 - - - - Germline - - - - - Gabriele Dekomien
+/. 1 1i c.37+2C>G r.spl p.? - pathogenic g.48243440C>G g.50166079C>G - - SGCA_000142 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/., ?/. 9 1, 1i c.(37+3A>T), c.37+3A>T r.(spl?), r.spl, r.spl? p.(?), p.? - pathogenic, VUS g.48243441A>T g.50166080A>T IVS1 splice, IVS1+3A>T - SGCA_000029 aberrant splicing PubMed: Carrie 1997, PubMed: Eymard 1997, PubMed: Trabelsi 2008 - - Germline - - MaeI+ - - Johan den Dunnen, Gabriele Dekomien
?/. 3 1i c.37+6T>C r.(?), r.(spl?) p.(?) - VUS g.48243444T>C g.50166083T>C - - SGCA_000117 father and mother heterozygous PubMed: Nallamilli 2018 - - Germline - - - - - Johan den Dunnen, Madhuri Hegde
-/., -?/., ?/. 4 1i c.37+23G>A r.(?) p.(=) - benign, likely benign, VUS g.48243461G>A g.50166100G>A - - SGCA_000112 father homozygous, mother heterozygous from website {DBsub-Emory} - - Germline, Unknown - - - - - Johan den Dunnen, Marina Fanin, Madhuri Hegde
-/. 1 1i c.37+23G>T r.(=) p.(=) - benign g.48243461G>T g.50166100G>T - - SGCA_000062 - - - - Germline - - - - - Ieke Ginjaar
-/. 2 1i c.37+27A>G r.(=) p.(=) - benign g.48243465A>G g.50166104A>G IVS1+27G>A - SGCA_000043 - {DB: Berne}, PubMed: Carrie 1997 - - Germline - 0.05, 6/128 AciI- - - Johan den Dunnen
-/., -?/. 3 1i c.37+66C>T r.(=) p.(=) - benign, likely benign g.48243504C>T g.50166143C>T SGCA(NM_000023.2):c.37+66C>T - SGCA_000061 parents homozygous, VKGL data sharing initiative Nederland - - rs9911548 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Groningen
?/. 1 1i c.38-46G>C r.(?) p.(=) - VUS g.48244683G>C g.50167322G>C - - SGCA_000113 - from website {DBsub-Emory} - - Germline - - - - - Madhuri Hegde
-?/., ?/. 2 2 c.62C>T r.(?) p.(Thr21Ile) - likely benign, VUS g.48244753C>T g.50167392C>T SGCA(NM_000023.2):c.62C>T (p.T21I) - SGCA_000131 VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Utrecht
+/. 2 2 c.73C>T r.(?) p.(Gln25*) - pathogenic g.48244764C>T g.50167403C>T - - SGCA_000069 - PubMed: Gouveia 2006 - - Germline - - - - - Johan den Dunnen
?/. 1 2 c.80C>T r.(?) p.(Thr27Met) - VUS g.48244771C>T g.50167410C>T - - SGCA_000143 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 2 c.85C>T r.(?) p.(His29Tyr) - VUS g.48244776C>T g.50167415C>T - - SGCA_000144 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 6 2 c.86dup r.(?), r.86dup p.(His29Glnfs*15), p.His29Glnfs*15 - pathogenic g.48244777dup g.50167416dup 86insA - SGCA_000053 - PubMed: Boito, PubMed: Ramelli 2006, PubMed: Trabelsi 2008 - - Germline, Unknown - - - - - Johan den Dunnen, Marina Fanin
?/. 2 2 c.88C>A r.(?) p.(Pro30Thr) - VUS g.48244779C>A g.50167418C>A - - SGCA_000063 - - - - Germline - - - - - Ieke Ginjaar
+/. 1 2 c.88_112del r.(?) p.(Pro30Thrfs*9) - pathogenic g.48244779_48244803del g.50167418_50167442del 87_111del - SGCA_000095 - PubMed: Trabelsi 2008 - - Germline - - - - - Johan den Dunnen
?/. 2 2 c.89C>T r.(?) p.(Pro30Leu) - VUS g.48244780C>T g.50167419C>T - - SGCA_000030 - PubMed: Carrie 1997, PubMed: Nallamilli 2018 - - Germline - - - - - Johan den Dunnen, Madhuri Hegde
+/., +?/. 8 2 c.92T>C r.(?), r.92u>c p.(Leu31Pro), p.Leu31Pro - likely pathogenic, pathogenic g.48244783T>C g.50167422T>C - - SGCA_000017 combination of variants not reported PubMed: Duggan, PubMed: Guglieri 2007, PubMed: Moreira, PubMed: Topf 2020, PubMed: Trabelsi 2008 - - Germline - 1/1001 cases - - - Johan den Dunnen, Tom Winder
+/. 5 2 c.95T>C r.(?) p.(Val32Ala) - pathogenic (recessive) g.48244786T>C g.50167425T>C - - SGCA_000209 - PubMed: Xie 2019, PubMed: Yu 2017 - - Germline - - - - - Johan den Dunnen
+/., +?/., ?/. 10 2, 3 c.100C>T r.(?) p.(Arg34Cys) - likely pathogenic, pathogenic, VUS g.48244791C>T g.50167430C>T - - SGCA_000031 combination of variants not reported, variant apparently homozygous PubMed: Carrie 1997, PubMed: Eymard 1997, PubMed: Nallamilli 2018, PubMed: Topf 2020 - - Germline - 1/1001 cases HaeIII- - - Johan den Dunnen, Gabriele Dekomien, Madhuri Hegde
+/., ?/. 24 2 c.101G>A r.(?), r.101g>a p.(Arg34His), p.Arg34His ACMG pathogenic, pathogenic (recessive), VUS g.48244792G>A g.50167431G>A SGCA(NM_000023.2):c.101G>A (p.(Arg34His)) - SGCA_000006 ACMG PM2, PP1-S, PM3, PP1-M, PP1, PP2, PP3, PP4, VKGL data sharing initiative Nederland from website {DBsub-Emory}, PubMed: Carrie 1997, PubMed: Duggan, PubMed: Monies 2016, PubMed: Xie 2019, 5 more items - - CLASSIFICATION record, Germline - - NlaIII+ - - Johan den Dunnen, Ieke Ginjaar, Gabriele Dekomien, Madhuri Hegde, VKGL-NL_Leiden, VKGL-NL_Nijmegen
+/. 5 2 c.101G>T r.(?) p.(Arg34Leu) - pathogenic g.48244792G>T g.50167431G>T - - SGCA_000091 - PubMed: Liang 2016, Journal: Liang 2016 - - Germline yes - - - - Jamie Zeegers
+/. 1 - c.109G>T r.(?) p.(Val37Leu) - pathogenic (recessive) g.48244800G>T g.50167439G>T - - SGCA_000200 - PubMed: Reddy 2017 - - Germline - - - - - Johan den Dunnen
?/. 1 2 c.132G>A r.(?) p.(=) - VUS g.48244823G>A g.50167462G>A - - SGCA_000145 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 2 c.155T>G r.(?) p.(Val52Gly) - VUS g.48244846T>G g.50167485T>G - - SGCA_000146 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/., ?/. 11 2 c.157G>A r.(?), r.(spl?) p.(Ala53Thr), p.(Ala53Thr?) - pathogenic, VUS g.48244848G>A g.50167487G>A - - SGCA_000042 not in 460 control chromosomes, variant apparently homozygous PubMed: Dos Santos 2001, PubMed: Fendri 2006, PubMed: Nallamilli 2018, PubMed: Trabelsi 2008 - - Germline - 0/340 HphI - - Johan den Dunnen, Rosário dos Santos, Madhuri Hegde
+/. 8 2i c.157+1G>A r.spl, r.spl? p.(?), p.(del?), p.? - pathogenic, pathogenic (recessive) g.48244849G>A g.50167488G>A - - SGCA_000070 - ESHG2010 Stehlikova P2.117, Ginjaar WMS2005, PubMed: Ten Dam 2019, PubMed: Ten Dam 2019 - - Germline - - TaqI+ - - Ieke Ginjaar, Jana Sedlackova
-/. 1 - c.158-11G>A r.(=) p.(=) - benign g.48244932G>A g.50167571G>A SGCA(NM_000023.2):c.158-11G>A - SGCA_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.158-10C>G r.(=) p.(=) - likely benign g.48244933C>G g.50167572C>G SGCA(NM_000023.2):c.158-10C>G - SGCA_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 2i_3 c.158-10_160del r.spl p.? ACMG likely pathogenic (recessive) g.48244933_48244945del g.50167572_50167584del - - SGCA_000210 ACMG PM2, PM3, PP1, PP3, PP4 PubMed: Xie 2019 - - Germline - - - - - Johan den Dunnen
+/. 3 3 c.161del r.(?) p.(Val54Alafs*157) - pathogenic g.48244946del g.50167585del 161delT - SGCA_000032, SGCA_000147 - PubMed: Carrie 1997, PubMed: Nallamilli 2018 - - Germline - - - - - Johan den Dunnen, Madhuri Hegde
+/. 1 3 c.168del r.(?) p.(Ala57Leufs*154) - pathogenic g.48244953del g.50167592del 168delC - SGCA_000148 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.172G>C r.(?) p.(Val58Leu) - VUS g.48244957G>C g.50167596G>C - - SGCA_000149 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 3 c.183dup r.(?) p.(Tyr62Leufs*43) - pathogenic g.48244968dup g.50167607dup 183dupC - SGCA_000150 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 3 c.184T>C r.(?) p.(Tyr62His) - pathogenic g.48244969T>C g.50167608T>C - - SGCA_000007 - PubMed: Piccolo, PubMed: Eymard 1997, PubMed: Crosbie 2000 - - Germline - - - - - Johan den Dunnen
+?/., ?/. 2 3 c.190G>A r.(?) p.(Ala64Thr) - likely pathogenic, VUS g.48244975G>A g.50167614G>A - - SGCA_000129 - PubMed: Nallamilli 2018 - - Germline ? - - - - Madhuri Hegde, Aurelio Hernández-Laín
?/. 2 3 c.197T>A r.(?) p.(Leu66His) ACMG VUS g.48244982T>A g.50167621T>A - - SGCA_000151 variant apparently homozygous; no second variant PubMed: Nallamilli 2018, PubMed: Nerakh 2021 - - Germline - - - - - Johan den Dunnen, Madhuri Hegde
-?/. 1 - c.199C>G r.(?) p.(Gln67Glu) - likely benign g.48244984C>G g.50167623C>G - - SGCA_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 3 c.203G>A r.(?) p.(Gly68Gln) - pathogenic g.48244988G>A g.50167627G>A - - SGCA_000008 - PubMed: Piccolo, PubMed: Eymard 1997, PubMed: Crosbie 2000 - - Germline - - BsmFI- - - Johan den Dunnen
+?/. 1 3 c.218C>G r.(?) p.(Pro73Arg) ACMG likely pathogenic (recessive) g.48245003C>G g.50167642C>G - - SGCA_000211 ACMG PM1, PM2, PM3, PP1, PP3, PP4 PubMed: Xie 2019 - - Germline - - - - - Johan den Dunnen
+?/. 1 3 c.218C>T r.(?) p.(Pro73Leu) ACMG likely pathogenic (recessive) g.48245003C>T g.50167642C>T - - SGCA_000212 ACMG PM1, PM2, PM3, PP1, PP3, PP4 PubMed: Xie 2019 - - Germline - - - - - Johan den Dunnen
+/. 8 3 c.220C>T r.(?) p.(Arg74Trp) - pathogenic, pathogenic (recessive) g.48245005C>T g.50167644C>T - - SGCA_000038 not in 200 control chromosomes PubMed: Ginjaar 2000, PubMed: Higuchi, PubMed: Higuchi, PubMed: Saha 2018, Journal: Saha 2018, 1 more item - rs757888349 Germline - - - - - Johan den Dunnen, Ieke Ginjaar, Gabriele Dekomien
?/. 1 3 c.221G>A r.(?) p.(Arg74Gln) - VUS g.48245006G>A g.50167645G>A - - SGCA_000118 - - - - Unknown - - - - - Marina Fanin
+/. 2 - c.226C>T r.(?) p.(Leu76Phe) - pathogenic (recessive) g.48245011C>T g.50167650C>T - - SGCA_000139 - PubMed: Saha 2018, Journal: Saha 2018, PubMed: Yis 2018 - - Germline - - - - - Johan den Dunnen
+/+, +/., +?/., ?/. 201 2, 3 c.(229C>T), c.229C>T r.(229C>T), r.(?), r.0, r.229c>u p.(Arg77Cys), p.0, p.Arg77Cys - likely pathogenic, pathogenic, pathogenic (recessive), VUS g.48245014C>T g.50167653C>T 299C>T, SGCA(NM_000023.2):c.229C>T (p.(Arg77Cys)) - SGCA_000003 aberrant band exon 2, no variant identified, combination of variants not reported, no second variant, 7 more items ESHG2010 Stehlikova P2.117, from website {DBsub-Emory}, Ginjaar WMS2005, PubMed: Ten Dam 2019, 35 more items - - CLASSIFICATION record, Germline yes 8/1001 cases BspLI-, NlaIV- - - Johan den Dunnen, Ieke Ginjaar, Rosário dos Santos, Gabriele Dekomien, Madhuri Hegde, Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq, Jana Sedlackova, Tom Winder, VKGL-NL_Leiden, VKGL-NL_Nijmegen, Valeria Guzman Olvera
?/. 1 3 c.230G>A r.(?) p.(Arg77His) - VUS g.48245015G>A g.50167654G>A - - SGCA_000152 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/., +?/. 2 - c.232_238del r.(?) p.(Tyr78Serfs*131) - likely pathogenic, pathogenic (recessive) g.48245017_48245023del g.50167656_50167662del 232_238delTACACCC - SGCA_000224 combination of variants not reported PubMed: Topf 2020, PubMed: Yis 2018 - - Germline - 2/1001 cases - - - Johan den Dunnen
+/. 1 3 c.233_234delinsGA r.(?) p.(Tyr78*) - pathogenic (recessive) g.48245018_48245019delinsGA g.50167657_50167658delinsGA - - SGCA_000213 - PubMed: Xie 2019 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.233_234insGA r.(?) p.(Tyr78*) - pathogenic (recessive) g.48245018_48245019insGA g.50167657_50167658insGA - - SGCA_000214 - PubMed: Yu 2017 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.234C>A r.(?) p.(Tyr78*) ACMG pathogenic (recessive) g.48245019C>A g.50167658C>A - - SGCA_000215 ACMG PVS1, PM2, PP4 PubMed: Xie 2019 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.238C>T r.(?) p.(Gln80*) - pathogenic g.48245023C>T g.50167662C>T - - SGCA_000011 - PubMed: Piccolo, PubMed: CarriÈ, PubMed: Eymard 1997 - - Germline - - - - - Johan den Dunnen
+/., +?/., ?/. 8 3, 4 c.241C>T r.(?) p.(Arg81Cys), p.Arg81Cys ACMG likely pathogenic, pathogenic, pathogenic (recessive), VUS g.48245026C>T g.50167665C>T Arg81Ser - SGCA_000092 combination of variants not reported, VKGL data sharing initiative Nederland, 1 more item PubMed: Guglieri 2007, PubMed: Magri 2015, PubMed: Nallamilli 2018, PubMed: Topf 2020, 1 more item - rs398123098 CLASSIFICATION record, Germline - 1/1001 cases - - - Johan den Dunnen, Madhuri Hegde, Andreas Laner, VKGL-NL_Nijmegen
?/. 3 3 c.250dup r.(?) p.(His84Profs*21) - VUS g.48245035dup g.50167674dup 250dupC - SGCA_000080 - - - - Germline - - - - - Gabriele Dekomien
+/. 1 - c.257C>T r.(?) p.(Pro86Leu) - pathogenic g.48245042C>T - - - SGCA_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., ?/. 2 3 c.265C>T r.(?) p.(Leu89Phe) - pathogenic, VUS g.48245050C>T g.50167689C>T - - SGCA_000081 - PubMed: Klinge 2008 - - Germline - - - - - Johan den Dunnen, Gabriele Dekomien
+/. 1 3 c.266_267inv r.(?) p.(Leu89Arg) - pathogenic g.48245051_48245052inv g.50167690_50167691inv - - SGCA_000039 - {DB: Newcastle} - - Germline - - - - - Johan den Dunnen
+/. 6 3 c.269A>G r.(?) p.(Tyr90Cys) - pathogenic g.48245054A>G g.50167693A>G - - SGCA_000041 - {DB: Porto}, PubMed: Moreira - - Germline - 0/260 Fnu4HI - - Johan den Dunnen
+/. 5 3 c.271G>A r.(?) p.(Gly91Ser) - pathogenic, pathogenic (recessive) g.48245056G>A g.50167695G>A - - SGCA_000076 not in 320 control chromosomes PubMed: Guglieri 2007, PubMed: Magri 2015 - - Germline - - - - - Johan den Dunnen, Marina Fanin
+/. 1 3 c.271G>C r.(?) p.(Gly91Arg) - pathogenic g.48245056G>C g.50167695G>C - - SGCA_000033 - PubMed: Carrie 1997 - - Germline - - BsrBI+ - - Johan den Dunnen
?/. 1 3 c.272G>A r.(?) p.(Gly91Asp) - VUS g.48245057G>A g.50167696G>A - - SGCA_000153 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 2 3 c.278C>T r.(?), r.278c>u p.(Ala93Val), p.Ala93Val - pathogenic g.48245063C>T g.50167702C>T - - SGCA_000018 - PubMed: Duggan, PubMed: Trabelsi 2008 - - Germline - - - - - Johan den Dunnen
?/. 2 3 c.288_290del r.(?) p.(Glu96del) - VUS g.48245073_48245075del g.50167712_50167714del 288_290delAGA - SGCA_000111 - - - - Germline, Unknown - - - - - Johan den Dunnen, Tom Winder
+/. 3 3 c.290A>G r.(?), r.290a>g p.(Asp97Gly), p.Asp97Gly - pathogenic g.48245075A>G g.50167714A>G - - SGCA_000019 - PubMed: Duggan, PubMed: Guglieri 2007 - - Germline - - - - - Johan den Dunnen
+/., ?/. 4 3 c.292C>A r.(?) p.(Arg98Ser) - pathogenic, VUS g.48245077C>A g.50167716C>A - - SGCA_000082 - PubMed: Klinge 2008 - - Germline - - - - - Johan den Dunnen, Gabriele Dekomien
+/., +?/. 10 3 c.292C>T r.(?), r.292c>u p.(Arg98Cys), p.Arg98Cys - likely pathogenic, pathogenic, pathogenic (recessive) g.48245077C>T g.50167716C>T - - SGCA_000020 variant apparently homozygous PubMed: Duggan, PubMed: Guglieri 2007, PubMed: Ljunggren, PubMed: Magri 2015, PubMed: Nallamilli 2018, 2 more items - - Germline - - Sau3A- - - Johan den Dunnen, Madhuri Hegde
+/., +?/., ?/. 15 3 c.293G>A r.(?), r.293g>a p.(Arg98His), p.Arg98His - likely pathogenic, pathogenic, VUS g.48245078G>A g.50167717G>A 293C>A - SGCA_000001 combination of variants not reported PubMed: Boito, PubMed: Carrie 1997, PubMed: Eymard 1997, PubMed: Klinge 2008, PubMed: Ljunggren, 4 more items - - Germline - 2/1001 cases NlaIII+ - - Johan den Dunnen, Gabriele Dekomien, Madhuri Hegde
?/. 1 3 c.293G>C r.(?) p.(Arg98Pro) - VUS g.48245078G>C g.50167717G>C - - SGCA_000154 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 3 c.301C>T r.(?) p.(Gln101*) - pathogenic g.48245086C>T g.50167725C>T - - SGCA_000096 - PubMed: Trabelsi 2008 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.302A>G r.(?) p.(Gln101Arg) - likely pathogenic g.48245087A>G g.50167726A>G - - SGCA_000225 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - - - Johan den Dunnen
+?/., ?/. 3 3 c.307A>G r.(?) p.(Ile103Val) - likely pathogenic, VUS g.48245092A>G g.50167731A>G - - SGCA_000155 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 3 3 c.307A>T r.(?) p.(Ile103Phe) - pathogenic, pathogenic (recessive) g.48245092A>T g.50167731A>T Ile307Trp - SGCA_000074 not in 320 control chromosomes PubMed: Guglieri 2007, PubMed: Magri 2015 - - Germline - - - - - Johan den Dunnen
+/., ?/. 5 3 c.308T>C r.(?), r.308u>c p.(Ile103Thr), p.Ile103Thr - pathogenic, VUS g.48245093T>C g.50167732T>C - - SGCA_000021 - PubMed: Duggan - - Germline - - - - - Johan den Dunnen, Gabriele Dekomien
?/. 2 3 c.312G>A r.(?) p.(=) - VUS g.48245097G>A g.50167736G>A - - SGCA_000156 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 3i c.312_313ins(NEO) r.0 p.0 - NA g.48245097_48245308ins(NEO) - - - SGCA_000000 1 more item PubMed: Kobuke 2008 - - In vitro (cloned) - - - - - Johan den Dunnen
-/. 2 3i c.312+83C>T r.(=) p.(=) - benign g.48245180C>T g.50167819C>T - - SGCA_000060 - - - rs2696297 Germline - - - - - Johan den Dunnen, Ieke Ginjaar
-/., -?/. 4 3i c.313-39C>A r.(=), r.(?) p.(=) - benign, likely benign g.48245269C>A g.50167908C>A 131-39C>A - SGCA_000064 parents homozygous from website {DBsub-Emory} - - Germline - - - - - Johan den Dunnen, Ieke Ginjaar, Madhuri Hegde
-?/. 1 - c.313-11C>T r.(=) p.(=) - likely benign g.48245297C>T g.50167936C>T - - SGCA_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 3i c.313-2A>G r.spl p.? - pathogenic (recessive) g.48245306A>G g.50167945A>G - - SGCA_000216 - PubMed: Xie 2019, PubMed: Yu 2017 - - Germline - - - - - Johan den Dunnen
+/. 1 3i_8i c.(312+1_313-1)_(983+1_984-1)del r.? p.? ACMG pathogenic (recessive) g.(48245098_48245307)_(48248028_48252617)del g.(50167737_50167946)_(50170667_50175256)del deletion ex4-8 - SGCA_000205 ACMG PVS1, PM3, PP1, PP4 PubMed: Xie 2019 - - Germline - - - - - Johan den Dunnen
+/. 3 - c.319_329del r.(?) p.(Ala107Glyfs*4) ACMG pathogenic (recessive) g.48245315_48245325del g.50167954_50167964del - - SGCA_000124 - PubMed: Mojbafan 2020 - - Germline - - - - - Johan den Dunnen
+/. 2 4 c.320C>T r.(?) p.(Ala107Val) - pathogenic (recessive) g.48245315C>T g.50167954C>T - - SGCA_000217 - PubMed: Xie 2019, PubMed: Yu 2017 - - Germline - - - - - Johan den Dunnen
+?/. 2 4 c.320_330del r.(?) p.(Ala107Glyfs*4) - likely pathogenic g.48245315_48245325del g.50167954_50167964del 319_329delGCCTACAATCG - SGCA_000124 - author, submitted - - Germline yes - - - - Zohreh Fattahi
+?/. 1 4 c.322_325dup r.(?) p.(Asn109Ilefs*7) - likely pathogenic g.48245317_48245320dup g.50167956_50167959dup 322_325dupTACA - SGCA_000157 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 4 c.328C>T r.(?) p.(Arg110Trp) - VUS g.48245323C>T g.50167962C>T - - SGCA_000158 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 4 c.329G>T r.(?) p.(Arg110Leu) - pathogenic g.48245324G>T g.50167963G>T - - SGCA_000056 - PubMed: Moreira - - Germline - - - - - Johan den Dunnen
+/. 7 4 c.(348_352dup), c.348_352dup r.(?), r.348_352dup p.(Gln118Leufs*95), p.Gln118Leufs*95 - pathogenic g.48245343_48245347dup g.50167982_50167986dup 347_351dupCTCGG, p.fs118toX212 - SGCA_000022 - PubMed: Crosbie 2000, PubMed: Duggan, PubMed: Klinge 2008 - - Germline - - - - - Johan den Dunnen, Gabriele Dekomien
?/. 3 4 c.350G>A r.(?) p.(Arg117Gln) - VUS g.48245345G>A g.50167984G>A - - SGCA_000159 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 1 - c.358_359del r.(?) p.(Leu120Glyfs*70) - likely pathogenic g.48245353_48245354del g.50167992_50167993del - - SGCA_000226 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - Johan den Dunnen
?/. 1 4 c.359T>G r.(?) p.(Leu120Arg) - VUS g.48245354T>G g.50167993T>G - - SGCA_000160 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/., +?/., -/., ?/. 24 4 c.371T>C r.(?), r.371u>c p.(Ile124Thr), p.Ile124Thr - benign, likely pathogenic, pathogenic, pathogenic (recessive), VUS g.48245366T>C g.50168005T>C 371C>T - SGCA_000023 1 heterozygous, no homozygous; Clinindb (India), variant apparently homozygous; no second variant PubMed: Fischer, PubMed: Carrie 1997, PubMed: Duggan, PubMed: Ginjaar 2000, PubMed: Klinge 2008, 5 more items - rs768814872 Germline - 1/2794 individuals BsrI+ - - Johan den Dunnen, Ieke Ginjaar, Gabriele Dekomien, Madhuri Hegde, Mohammed Faruq
+/. 2 4 c.377A>G r.(?) p.(Asp126Gly) - pathogenic g.48245372A>G g.50168011A>G - - SGCA_000108 - - - - Germline - - - - - Gabriele Dekomien
?/. 2 4 c.385G>A r.(?) p.(Gly129Ser) - VUS g.48245380G>A g.50168019G>A - - SGCA_000161 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
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