All variants in the SGCB 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_000232.4 transcript reference sequence.

579 entries on 6 pages. Showing entries 1 - 100.
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Effect     

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 c.-189G>T r.(?) p.(=) - benign g.52904614C>A g.52038448C>A - - SGCB_000040 - - - rs10434429 Germline - - - 0 - Johan den Dunnen
?/. 1 c.-26A>G r.(?) p.(=) - VUS g.52904451T>C g.52038285T>C -26G>A - SGCB_000084 - from website {DBsub-Emory} - - Unknown - - - 0 - Madhuri Hegde
+/. 1_1i c.-22_(33+1_34-1)dup r.(?) p.? - pathogenic g.(52899807_52904392)_52904447dup - 10(-22_33+?dup) - SGCB_000073 duplication <4.5 Kb PubMed: Trabelsi 2008, PubMed: Saillour 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 1_1i c.-22_(33+1_34-1)dup r.(?) p.? - pathogenic g.(52899807_52904392)_52904447dup - 10(-22_33+?dup) - SGCB_000073 duplication <4.5 Kb; unknown variant 2nd chromosome PubMed: Trabelsi 2008, PubMed: Saillour 2008 - - Germline - - - 0 - Svetlana Kocheva
+/. 1_1i c.-22_(33+1_34-1)dup r.(?) p.? - pathogenic g.(52899807_52904392)_52904447dup - 10(-22_33+?dup) - SGCB_000073 duplication <4.5 Kb PubMed: Trabelsi 2008, PubMed: Saillour 2008 - - Germline - - - 0 - Johan den Dunnen
-/. 1 c.-20del r.(?) p.(=) - benign g.52904446del g.52038280del -20delG - SGCB_000085 - from website {DBsub-Emory} - - Unknown - - - 0 - Madhuri Hegde
+/. 1 c.-18_8dup r.(?) p.(Ala4TrpfsTer18) - pathogenic g.52904422_52904447dup g.52038256_52038281dup 4-22_4dup26 - SGCB_000075 - PubMed: Trabelsi 2008, PubMed: Saillour 2008 - - Germline - - - 0 - Svetlana Kocheva
+/. 1 c.-18_8dup r.(?) p.(Ala4TrpfsTer18) - pathogenic g.52904422_52904447dup g.52038256_52038281dup 4-22_4dup26 - SGCB_000075 - PubMed: Trabelsi 2008, PubMed: Saillour 2008 - - Germline - - - 0 - Svetlana Kocheva
?/. - c.-12_8dup r.(?) p.(Ala4Glyfs*22) ACMG VUS g.52904418dup - - - SGCB_000134 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. - - - Germline - - - 0 - Andreas Laner
+/. 1 c.-10_16del r.(?) p.0? - pathogenic g.52904417_52904442del g.52038251_52038276del - - SGCB_000043 - - - - Germline - - - 0 - Rosário dos Santos
+?/. 1 c.-10_16dup r.(?) p.(Ala6AspfsTer24) - likely pathogenic g.52904417_52904442dup g.52038251_52038276dup -10_16dup26 - SGCB_000083 - - - - Germline - - - 0 - Tom Winder
+/. 1 c.-10_16dup r.(?) p.(Ala6AspfsTer24) - pathogenic (recessive) g.52904417_52904442dup g.52038251_52038276dup -10_16dup26 - SGCB_000083 - PubMed: Mojbafan 2016 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.-10_16dup r.(?) p.(Ala6Aspfs*24) ACMG pathogenic (recessive) g.52904417_52904442dup g.52038251_52038276dup - - SGCB_000083 - PubMed: Mojbafan 2020 - - Germline - - - 0 - Johan den Dunnen
+/. - c.-10_16dup r.(?) p.(Ala6Aspfs*24) ACMG pathogenic (recessive) g.52904417_52904442dup g.52038251_52038276dup - - SGCB_000083 - PubMed: Mojbafan 2020 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.-10_22dup r.(?) p.(Ala8AspfsTer24) - pathogenic g.52904416_52904447dup g.52038250_52038281dup - - SGCB_000031 - PubMed: Semplicini 2015, Journal: Semplicini 2015 - - Germline yes - - 0 - Jamie Zeegers
+/. 1 c.-10_22dup r.(?) p.(Ala8AspfsTer24) - likely pathogenic g.52904416_52904447dup g.52038250_52038281dup - - SGCB_000031 - PubMed: Semplicini 2015, Journal: Semplicini 2015 - - Germline yes - - 0 - Jamie Zeegers
+/. 1 c.-10_22dup r.(?) p.(Ala8AspfsTer24) - pathogenic g.52904416_52904447dup g.52038250_52038281dup - - SGCB_000031 - PubMed: Semplicini 2015, Journal: Semplicini 2015 - - Germline yes - - 0 - Jamie Zeegers
?/. 1 c.-10_22dup r.(?) p.(Ala8Glyfs*22)? - VUS g.52904416_52904447dup g.52038250_52038281dup - - SGCB_000031 - - - - Germline - - - 0 - Gabriele Dekomien
?/. 1 c.-10_22dup r.(?) p.(Ala8Glyfs*22)? - VUS g.52904416_52904447dup g.52038250_52038281dup - - SGCB_000031 - - - - Germline - - - 0 - Gabriele Dekomien
?/. 1 c.-10_22dup r.(?) p.(Ala8Glyfs*22)? - VUS g.52904416_52904447dup g.52038250_52038281dup - - SGCB_000031 - - - - Germline - - - 0 - Gabriele Dekomien
?/. 1 c.-10_22dup r.(?) p.(Ala8Glyfs*22)? - VUS g.52904416_52904447dup g.52038250_52038281dup - - SGCB_000031 - - - - Germline - - - 0 - Gabriele Dekomien
+/. 1 c.-10_22dup r.-22_10dup p.(Ala8Glyfs*22)? - pathogenic g.52904416_52904447dup g.52038250_52038281dup -22_10dup - SGCB_000031 - PubMed: Boito - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.-10_22dup r.-22_10dup p.(Ala8Glyfs*22)? - pathogenic g.52904416_52904447dup g.52038250_52038281dup -22_10dup - SGCB_000031 - PubMed: Boito - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.-10_22dup r.-22_10dup p.(Ala8Glyfs*22)? - pathogenic g.52904416_52904447dup g.52038250_52038281dup -22_10dup - SGCB_000031 - PubMed: Fanin 2003 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.-10_22dup r.-22_10dup p.(Ala8Glyfs*22)? - pathogenic g.52904416_52904447dup g.52038250_52038281dup -22_10dup - SGCB_000031 - PubMed: Fanin 2003 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.-10_22dup r.(?) p.(Ala8Glyfs*22)? - pathogenic g.52904416_52904447dup g.52038250_52038281dup 10-22_10dup32 - SGCB_000031 - PubMed: Trabelsi 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.-10_22dup r.(?) p.(Ala8Glyfs*22)? - pathogenic g.52904416_52904447dup g.52038250_52038281dup 10-22_10dup32 - SGCB_000031 - PubMed: Trabelsi 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.-10_22dup r.(?) p.(Ala8Glyfs*22)? - pathogenic g.52904416_52904447dup g.52038250_52038281dup 23_54ins - SGCB_000031 - PubMed: Klinge 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.-10_22dup r.(?) p.(Ala8Glyfs*22)? - pathogenic g.52904416_52904447dup g.52038250_52038281dup 23_54ins - SGCB_000031 - PubMed: Klinge 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.-10_22dup r.(?) p.(Ala8Glyfs*22)? - pathogenic g.52904416_52904447dup g.52038250_52038281dup 23_54ins - SGCB_000031 - PubMed: Klinge 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.-10_22dup r.(?) p.(Ala8Glyfs*22)? - pathogenic g.52904416_52904447dup g.52038250_52038281dup 23_54ins - SGCB_000031 - PubMed: Klinge 2008 - - Germline - - - 0 - Johan den Dunnen
?/. 1 c.-4G>T r.(?) p.(=) - VUS g.52904429C>A g.52038263C>A - - SGCB_000129 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. _1_8_ c.(?_-1)_(*1_?)del r.0 p.(0) - pathogenic g.(?_52890122)_(52904426_?)del - c.-60-?_*3251+?del - SGCB_000050 deletion ~400 Kb PubMed: Kaindl 2005 - - Germline - - - 0 - Johan den Dunnen
+/. _1_8_ c.(?_-1)_(*1_?)del r.0 p.(0) - pathogenic g.(?_52890122)_(52904426_?)del - c.-60-?_*3251+?del - SGCB_000050 - PubMed: Kaindl 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 3i c.(429+1_430-1)? r.spl p.? - pathogenic g.(52895088_52895843)? - exon 3 SD - SGCB_000000 - PubMed: Crosbie 2000 - - Germline - - - 0 - Johan den Dunnen
+/. 4i_6_ c.(621+1_626-1)_*3262{0} r.? p.? ACMG pathogenic (recessive) g.(?_52886861)_(52894262_52894895)del g.(?_52020695)_(52028096_52028729)del deletion ex5-6 - SGCB_000143 ACMG PVS1, PM3, PP1, PP4 PubMed: Xie 2019 - - Germline - - - 0 - Johan den Dunnen
+?/. 2i_6i c.-60_(429+1_430-1){0} r.(?) p.(?) - likely pathogenic g.(52895088_52895843)_(52904485_?)del g.(52028922_52029677)_(52038319_?)del del ex3-6 (?_-1_429+1_430-1)del - SGCB_000162 - MDCRC 2021, submitted - - Germline/De novo (untested) - - - 0 - Lakshmi Bremadesam
+/. _1_6_ c.-60_*3262{0} r.0 p.0 - pathogenic (recessive) g.(?_52886861)_(52904485_?)del g.(?_52020695)_(52038319_?)del whole gene deletion - SGCB_000148 - PubMed: Yis 2018 - - Germline - - - 0 - Johan den Dunnen
-/. 2i c.244-1587_244-1530CA[11_29] r.(=) p.(=) - benign g.52897559_52897616TG[11_29] g.52031393_52031450TG[11_29] - - SGCB_000047 - - - rs6148429 Germline - - - 0 - Johan den Dunnen
+/. 1 c.1A>G r.(?) p.(Met1?) - pathogenic g.52904425T>C g.52038259T>C Met1? - SGCB_000091 - PubMed: Semplicini 2015, Journal: Semplicini 2015 - - Germline - - - 0 - Jamie Zeegers
+/. - c.1A>G r.(?) p.(Met1?) - pathogenic g.52904425T>C g.52038259T>C - - SGCB_000091 ACMG PVS1 PS4-M PM2 PP3 PP5; no genotypes reported PubMed: Nguyen 2021 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.1A>T r.(?) p.(0?) - pathogenic g.52904425T>A g.52038259T>A - - SGCB_000027 - Dincer 2004, Acta Myologica XXIII: 67 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.1A>T r.(?) p.(0?) - pathogenic g.52904425T>A g.52038259T>A - - SGCB_000027 - Dincer 2004, Acta Myologica XXIII: 67 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.1A>T r.(?) p.(0?) - pathogenic g.52904425T>A g.52038259T>A - - SGCB_000027 - Dincer 2004, Acta Myologica XXIII: 67 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.1A>T r.(?) p.(0?) - pathogenic g.52904425T>A g.52038259T>A - - SGCB_000027 - Dincer 2004, Acta Myologica XXIII: 67 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.1_2del r.(?) p.0? - pathogenic g.52904424_52904425del g.52038258_52038259del - - SGCB_000059 - - - - Germline - - - 0 - Gabriele Dekomien
+/. 1 c.1_2del r.(?) p.0? - pathogenic g.52904424_52904425del g.52038258_52038259del - - SGCB_000059 - - - - Germline - - - 0 - Gabriele Dekomien
+/. 1 c.1_2del r.(?) p.(0?) - pathogenic g.52904424_52904425del g.52038258_52038259del - - SGCB_000059 - - - - Germline - - - 0 - Gabriele Dekomien
+/. 1 c.1_2del r.(?) p.(0) - pathogenic g.52904424_52904425del g.52038258_52038259del - - SGCB_000059 - - - - Germline - - - 0 - Gabriele Dekomien
+/. 1 c.1_2del r.(?) p.(0) - pathogenic g.52904424_52904425del g.52038258_52038259del - - SGCB_000059 - - - - Germline - - - 0 - Gabriele Dekomien
+/. 1 c.1_2del r.(?) p.(0?) - pathogenic g.52904424_52904425del g.52038258_52038259del - - SGCB_000059 - - - - Germline - - - 0 - Gabriele Dekomien
+/. 1 c.1_2del r.(?) p.(0?) - pathogenic g.52904424_52904425del g.52038258_52038259del - - SGCB_000059 - PubMed: Klinge 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.1_2del r.(?) p.(0?) - pathogenic g.52904424_52904425del g.52038258_52038259del - - SGCB_000059 - PubMed: Klinge 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.1_2del r.(?) p.0? - pathogenic g.52904424_52904425del g.52038258_52038259del - - SGCB_000059 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 1 c.1_2del r.(?) p.0? - pathogenic g.52904424_52904425del g.52038258_52038259del - - SGCB_000059 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 1 c.1_2del r.(?) p.0? - pathogenic g.52904424_52904425del g.52038258_52038259del 1_2delAT - SGCB_000059 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 1 c.2T>C r.(?) p.(0?) - pathogenic g.52904424A>G g.52038258A>G - - SGCB_000033 - PubMed: Moreira 2003 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.2T>C r.(?) p.(0?) - pathogenic g.52904424A>G g.52038258A>G - - SGCB_000033 - PubMed: Moreira 2003 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.2T>C r.(?) p.(0?) - pathogenic g.52904424A>G g.52038258A>G - - SGCB_000033 - PubMed: Moreira 2003 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.2T>C r.(?) p.(0?) - pathogenic g.52904424A>G g.52038258A>G - - SGCB_000033 - PubMed: Moreira 2003 - - Germline - - - 0 - Johan den Dunnen
?/. 1 c.9_14dup r.(?) p.(Ala8_Ala9dup) - VUS g.52904417_52904422dup g.52038251_52038256dup 9_14dup6 - SGCB_000128 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.9_14dup r.(?) p.(Ala8_Ala9dup) - VUS g.52904417_52904422dup g.52038251_52038256dup 9_14dupAGCGGC - SGCB_000128 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.18_23dup r.(?) p.(Ala8_Ala9dup) - VUS g.52904411_52904416dup g.52038245_52038250dup 18_23dup6 - SGCB_000127 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 1 c.19del r.(?) p.(Ala7Argfs*12) - pathogenic g.52904408del g.52038242del 19delG - SGCB_000061 - - - - Germline - - - 0 - Gabriele Dekomien
?/. 1 c.21_23dup r.(?) p.(Ala9dup) - VUS g.52904414_52904416dup g.52038248_52038250dup - - SGCB_000071 - - - - Germline - - - 0 - Gabriele Dekomien
?/. 1 c.21_23dup r.(?) p.(Ala9dup) - VUS g.52904414_52904416dup g.52038248_52038250dup - - SGCB_000071 - - - - Germline - - - 0 - Gabriele Dekomien
?/. 1 c.21_23dup r.(?) p.(Ala9dup) - VUS g.52904414_52904416dup g.52038248_52038250dup - - SGCB_000071 - - - - Germline - - - 0 - Gabriele Dekomien
?/. 1 c.21_23dup r.(?) p.(Ala9dup) - VUS g.52904414_52904416dup g.52038248_52038250dup - - SGCB_000071 - - - - Germline - - - 0 - Gabriele Dekomien
?/. 1 c.21_23dup r.(?) p.(Ala9dup) - VUS g.52904414_52904416dup g.52038248_52038250dup - - SGCB_000071 - - - - Germline - - - 0 - Gabriele Dekomien
?/. 1 c.21_23dup r.(?) p.(Ala9dup) - VUS g.52904414_52904416dup g.52038248_52038250dup 21_23dupGGC - SGCB_000071 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.21_23dup r.(?) p.(Ala9dup) - VUS g.52904414_52904416dup g.52038248_52038250dup 21_23dupGGC - SGCB_000071 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.21_23dup r.(?) p.(Ala9dup) - VUS g.52904414_52904416dup g.52038248_52038250dup 21_23dupGGC - SGCB_000071 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.21_23dup r.(?) p.(Ala9dup) - VUS g.52904414_52904416dup g.52038248_52038250dup 21_23dupGGC - SGCB_000071 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.21_23dup r.(?) p.(Ala9dup) - VUS g.52904414_52904416dup g.52038248_52038250dup 21_23dupGGC - SGCB_000071 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
-?/. - c.26_27insCGC r.(?) p.(Ala9dup) - likely benign g.52904401_52904402insGGC g.52038235_52038236insGGC - - SGCB_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 c.29_33del r.(?) p.(Glu10Alafs*13) ACMG pathogenic (recessive) g.52904393_52904397del g.52038227_52038231del 29_33delAACAG - SGCB_000146 ACMG PVS1, PM2, PP1, PP4 PubMed: Xie 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.29_33del r.(?) p.(Glu10Alafs*13) ACMG pathogenic (recessive) g.52904393_52904397del g.52038227_52038231del 29_33delAACAG - SGCB_000146 ACMG PVS1, PM2, PP1, PP4 PubMed: Xie 2019 - - Germline - - - 0 - Johan den Dunnen
?/. - c.29_33dup r.(?) p.(Gln12Asnfs*9) - VUS g.52904396_52904400dup g.52038230_52038234dup - - SGCB_000140 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs796065319 Germline - 2/2785 individuals - 0 - Mohammed Faruq
+/. 1 c.31C>G r.31c>g p.Gln11Glu - pathogenic g.52904395G>C g.52038229G>C - - SGCB_000009 - PubMed: Duggan - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.31C>G r.31c>g p.Gln11Glu - pathogenic g.52904395G>C g.52038229G>C - - SGCB_000009 - PubMed: Duggan - - Germline - - - 0 - Johan den Dunnen
+?/. 1 c.31C>G r.(?) p.(Gln11Glu) - likely pathogenic g.52904395G>C g.52038229G>C - - SGCB_000009 Note that both variants have been reported as pathogenic by others (Duggan 1997 and Duclos 1998) - - - Germline - - - 0 - Tom Winder
?/. 1 c.31C>G r.(?) p.(Gln11Glu) - VUS g.52904395G>C g.52038229G>C - - SGCB_000009 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.31C>G r.(?) p.(Gln11Glu) - VUS g.52904395G>C g.52038229G>C - - SGCB_000009 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.31C>G r.(?) p.(Gln11Glu) - VUS g.52904395G>C g.52038229G>C - - SGCB_000009 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.31C>G r.(?) p.(Gln11Glu) - VUS g.52904395G>C g.52038229G>C - - SGCB_000009 - MDCRC 2021, submitted - - Germline/De novo (untested) - - - 0 - Lakshmi Bremadesam
+/. 1 c.31C>T r.(?) p.(Gln11*) - pathogenic g.52904395G>A g.52038229G>A - - SGCB_000010 - - - - Germline - - - 0 - Gabriele Dekomien
+/. 1 c.31C>T r.(?) p.(Gln11*) - pathogenic g.52904395G>A g.52038229G>A - - SGCB_000010 - Dincer 2004, Acta Myologica XXIII: 67 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.31C>T r.(?) p.(Gln11*) - pathogenic g.52904395G>A g.52038229G>A - - SGCB_000010 - Dincer 2004, Acta Myologica XXIII: 67 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.31C>T r.(?) p.(Gln11*) - pathogenic (recessive) g.52904395G>A g.52038229G>A - - SGCB_000010 - PubMed: Ginjaar 2000 - - Germline - - - 0 - Ieke Ginjaar
+/. 1 c.31C>T r.31c>t p.Gln11* - pathogenic g.52904395G>A g.52038229G>A - - SGCB_000010 - PubMed: Duggan - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.31C>T r.(?) p.(Gln11*) - pathogenic g.52904395G>A g.52038229G>A - - SGCB_000010 - PubMed: Love - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.31C>T r.(?) p.(Gln11*) - pathogenic g.52904395G>A g.52038229G>A - - SGCB_000010 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 1 c.31C>T r.(?) p.(Gln11*) - pathogenic g.52904395G>A g.52038229G>A - - SGCB_000010 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 1 c.31C>T r.(?) p.(Gln11*) - pathogenic g.52904395G>A g.52038229G>A Q11X - SGCB_000010 - PubMed: Khadlikar 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.31C>T r.(?) p.(Gln11*) - pathogenic g.52904395G>A g.52038229G>A - - SGCB_000010 - - - - Germline - - - 0 - Tom Winder
+/. 1 c.31C>T r.(?) p.(Gln11*) - pathogenic g.52904395G>A g.52038229G>A - - SGCB_000010 - - - - Germline - - - 0 - Vikki Stefans
+/. 1 c.31C>T r.(?) p.(Gln11*) - pathogenic g.52904395G>A g.52038229G>A - - SGCB_000010 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. - c.31C>T r.(?) p.(Gln11*) - pathogenic (recessive) g.52904395G>A g.52038229G>A - - SGCB_000010 - PubMed: Ten Dam 2019 - - Germline - - - 0 - Ieke Ginjaar
+/. - c.31C>T r.(?) p.(Gln11*) - pathogenic (recessive) g.52904395G>A g.52038229G>A - - SGCB_000010 - PubMed: Ten Dam 2019 - - Germline - - - 0 - Ieke Ginjaar
+/. - c.31C>T r.(?) p.(Gln11*) - pathogenic g.52904395G>A - - - SGCB_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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