Unique 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.

162 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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 c.-189G>T r.(?) p.(=) - benign g.52904614C>A g.52038448C>A - - SGCB_000040 - - - rs10434429 Germline - - - - - Johan den Dunnen
?/. 1 1 c.-26A>G r.(?) p.(=) - VUS g.52904451T>C g.52038285T>C -26G>A - SGCB_000084 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
+/. 3 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, duplication <4.5 Kb; unknown variant 2nd chromosome PubMed: Trabelsi 2008, PubMed: Saillour 2008 - - Germline - - - - - Johan den Dunnen, Svetlana Kocheva
-/. 1 1 c.-20del r.(?) p.(=) - benign g.52904446del g.52038280del -20delG - SGCB_000085 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
+/. 2 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 - - - - - Svetlana Kocheva
?/. 1 - c.-12_8dup r.(?) p.(Ala4Glyfs*22) ACMG VUS g.52904418dup - - - SGCB_000134 1 more item - - - Germline - - - - - Andreas Laner
+/. 1 1 c.-10_16del r.(?) p.0? - pathogenic g.52904417_52904442del g.52038251_52038276del - - SGCB_000043 - - - - Germline - - - - - Rosário dos Santos
+/., +?/. 4 1 c.-10_16dup r.(?) p.(Ala6Aspfs*24), p.(Ala6AspfsTer24) ACMG likely pathogenic, pathogenic (recessive) g.52904417_52904442dup g.52038251_52038276dup -10_16dup26 - SGCB_000083 - PubMed: Mojbafan 2016, PubMed: Mojbafan 2020 - - Germline yes - - - - Johan den Dunnen, Tom Winder
+/., ?/. 17 1 c.-10_22dup r.(?), r.-22_10dup p.(Ala8AspfsTer24), p.(Ala8Glyfs*22)? - likely pathogenic, pathogenic, VUS g.52904416_52904447dup g.52038250_52038281dup -22_10dup, 10-22_10dup32, 23_54ins - SGCB_000031 - PubMed: Boito, PubMed: Fanin 2003, PubMed: Klinge 2008, PubMed: Trabelsi 2008, 1 more item - - Germline yes - - - - Johan den Dunnen, Gabriele Dekomien, Jamie Zeegers
?/. 1 1 c.-4G>T r.(?) p.(=) - VUS g.52904429C>A g.52038263C>A - - SGCB_000129 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 2 _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 - - - - - Johan den Dunnen
+/. 1 3i c.(429+1_430-1)? r.spl p.? - pathogenic g.(52895088_52895843)? - exon 3 SD - SGCB_000000 - PubMed: Crosbie 2000 - - Germline - - - - - Johan den Dunnen
+/. 1 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 - - - - - Johan den Dunnen
+?/. 1 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) - - - - - Lakshmi Bremadesam
+/. 1 _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 - - - - - Johan den Dunnen
-/. 1 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 - - - - - Johan den Dunnen
+/. 2 1 c.1A>G r.(?) p.(Met1?) - pathogenic g.52904425T>C g.52038259T>C Met1? - SGCB_000091 ACMG PVS1 PS4-M PM2 PP3 PP5; no genotypes reported PubMed: Nguyen 2021, PubMed: Semplicini 2015, Journal: Semplicini 2015 - - Germline - - - - - Johan den Dunnen, Jamie Zeegers
+/. 4 1 c.1A>T r.(?) p.(0?) - pathogenic g.52904425T>A g.52038259T>A - - SGCB_000027 - Dincer 2004, Acta Myologica XXIII: 67 - - Germline - - - - - Johan den Dunnen
+/. 11 1 c.1_2del r.(?) p.(0), p.(0?), p.0? - pathogenic g.52904424_52904425del g.52038258_52038259del 1_2delAT - SGCB_000059 - PubMed: Klinge 2008, PubMed: Nallamilli 2018 - - Germline - - - - - Johan den Dunnen, Ieke Ginjaar, Gabriele Dekomien, Madhuri Hegde
+/. 4 1 c.2T>C r.(?) p.(0?) - pathogenic g.52904424A>G g.52038258A>G - - SGCB_000033 - PubMed: Moreira 2003 - - Germline - - - - - Johan den Dunnen
?/. 2 1 c.9_14dup r.(?) p.(Ala8_Ala9dup) - VUS g.52904417_52904422dup g.52038251_52038256dup 9_14dup6, 9_14dupAGCGGC - SGCB_000128 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 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 - - - - - Madhuri Hegde
+/. 1 1 c.19del r.(?) p.(Ala7Argfs*12) - pathogenic g.52904408del g.52038242del 19delG - SGCB_000061 - - - - Germline - - - - - Gabriele Dekomien
?/. 10 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 - - - - - Gabriele Dekomien, Madhuri Hegde
-?/. 1 - 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
+/. 2 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 - - - - - Johan den Dunnen
?/. 1 - 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 - - - Mohammed Faruq
+/., +?/., ?/. 7 1, 3 c.31C>G r.(?), r.31c>g p.(Gln11Glu), p.Gln11Glu - likely pathogenic, pathogenic, VUS g.52904395G>C g.52038229G>C - - SGCB_000009 Note that both variants have been reported as pathogenic by others (Duggan 1997 and Duclos 1998), 1 more item MDCRC 2021, submitted, PubMed: Duggan, PubMed: Nallamilli 2018 - - Germline, Germline/De novo (untested) - - - - - Johan den Dunnen, Madhuri Hegde, Tom Winder, Lakshmi Bremadesam
+/. 15 1 c.31C>T r.(?), r.31c>t p.(Gln11*), p.Gln11* - pathogenic, pathogenic (recessive) g.52904395G>A g.52038229G>A Q11X - SGCB_000010 VKGL data sharing initiative Nederland Dincer 2004, Acta Myologica XXIII: 67, PubMed: Duggan, PubMed: Ginjaar 2000, PubMed: Khadlikar 2009, 3 more items - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, Ieke Ginjaar, Gabriele Dekomien, Madhuri Hegde, Tom Winder, Vikki Stefans, VKGL-NL_Nijmegen
?/. 2 1 c.33G>C r.(?) p.(Gln11His) - VUS g.52904393C>G g.52038227C>G - - SGCB_000126 2 heterozygous, no homozygous; Clinindb (India), variant apparently homozygous PubMed: Nallamilli 2018, PubMed: Narang 2020, Journal: Narang 2020 - rs796065319 Germline - 2/2785 individuals - - - Madhuri Hegde, Mohammed Faruq
+/. 3 1i c.33+1G>C r.(?), r.spl? p.(?), p.? - pathogenic g.52904392C>G g.52038226C>G IVS1+1G>C - SGCB_000064 - PubMed: Semplicini 2015, Journal: Semplicini 2015 - - Germline - - - - - Gabriele Dekomien, Jamie Zeegers
-/. 1 1i c.33+2241C>A r.(=) p.(=) - benign g.52902152G>T g.52035986G>T - - SGCB_000024 - - - rs429664 Germline - 0.47 - - - Johan den Dunnen
-/. 1 1i c.34-47A>T r.(=) p.(=) - benign g.52899853T>A g.52033687T>A - - SGCB_000054 - - - rs429664 Germline - 0.47 - - - Ieke Ginjaar
+?/. 1 1i c.34-1G>A r.spl p.? - likely pathogenic g.52899807C>T g.52033641C>T - - SGCB_000090 - - - - Germline yes - - - - Zohreh Fattahi
+/. 24 1i_2i c.(33+1_34-1)_(243+1_244-1)del r.(ex2del), r.? p.? ACMG pathogenic, pathogenic (recessive) g.(52896030_52899596)_(52899807_52904392)del, g.(?_52899596)_(52899807_?)del g.(52029864_52033430)_(52033641_52038226)del chr4:52899598-52899806 - SGCB_000065 0.21 kb deletion PubMed: Mojbafan 2020, PubMed: Topf 2020 - - Germline - 1/1001 cases - - - Johan den Dunnen, Gabriele Dekomien
+/. 1 2 c.36_37delinsG r.(?) p.(Ser13Valfs*6) - pathogenic g.52899803_52899804delinsC g.52033637_52033638delinsC - - SGCB_000092 - PubMed: Semplicini 2015, Journal: Semplicini 2015 - - Germline - - - - - Jamie Zeegers
?/. 1 2 c.67C>T r.(?) p.(Arg23Cys) - VUS g.52899773G>A g.52033607G>A - - SGCB_000125 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 - c.82G>T r.(?) p.(Glu28Ter) - pathogenic g.52899758C>A g.52033592C>A - - SGCB_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 2 c.82_86del r.(?) p.(Glu28Lys*5) - pathogenic g.52899754_52899758del g.52033588_52033592del - - SGCB_000018 - {DB: Newcastle} - - Germline - - - - - Johan den Dunnen
-/. 1 2 c.83A>G r.(?) p.(Glu28Gly) - benign g.52899757T>C g.52033591T>C - - SGCB_000036 - - - rs11541944 Germline - - - - - Johan den Dunnen
+/. 5 2 c.85A>T r.(?) p.(Arf29*), p.(Arg29*), p.(Arg29*†) - pathogenic, pathogenic (recessive) g.52899755T>A g.52033589T>A - - SGCB_000022 - PubMed: Cagliani, PubMed: Guglieri 2007, PubMed: Magri 2015, 1 more item - - Germline - - - - - Johan den Dunnen, Jamie Zeegers
?/. 1 - c.87_89del r.(?) p.(Arg30del) - VUS g.52899753_52899755del g.52033587_52033589del - - SGCB_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 2 c.90G>T r.(?) p.(Arg30Ser) - benign g.52899750C>A g.52033584C>A - - SGCB_000035 - - - rs11541942 Germline - - - - - Johan den Dunnen
-?/. 1 - c.92G>T r.(?) p.(Ser31Ile) - likely benign g.52899748C>A g.52033582C>A SGCB(NM_000232.4):c.92G>T (p.(Ser31Ile)) - SGCB_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 3 2 c.112_113del r.(?) p.(Ser38*) - pathogenic, pathogenic (recessive) g.52899727_52899728del g.52033561_52033562del 112_113delCT - SGCB_000076 - PubMed: Saha 2018, Journal: Saha 2018, PubMed: Trabelsi 2008 - - Germline yes - - - - Johan den Dunnen
+/. 1 2 c.128dup r.(?) p.(Tyr44Ilefs*5) - pathogenic g.52899713dup g.52033547dup 128_129insG - SGCB_000077 - PubMed: Trabelsi 2008 - - Germline - - - - - Johan den Dunnen
?/. 6 2 c.151C>T r.(?) p.(Arg51Cys) - VUS g.52899689G>A g.52033523G>A - - SGCB_000124 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 2 c.166G>C r.(?) p.(Gly56Arg) - VUS g.52899674C>G g.52033508C>G - - SGCB_000060 - - - - Germline - - - - - Gabriele Dekomien
?/. 1 - c.181A>G r.(?) p.(Lys61Glu) ACMG VUS g.52899659T>C g.52033493T>C - - SGCB_000157 - PubMed: Chakravorty 2020 - - Germline - - - - - Johan den Dunnen
+?/. 1 2 c.185del r.(?) p.(Gly62Alafs*3) - likely pathogenic g.52899657del g.52033491del - - SGCB_000089 - - - - Germline yes - - - - Zohreh Fattahi
?/. 1 2 c.188A>G r.(?) p.(Asn63Ser) - VUS g.52899652T>C g.52033486T>C - - SGCB_000123 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 2 2 c.191T>G r.(?) p.(Leu64*) - pathogenic g.52899649A>C g.52033483A>C - - SGCB_000078 - PubMed: Trabelsi 2008 - - Germline - - - - - Johan den Dunnen
?/. 1 2 c.199_210del r.(?) p.(Cys67_Ile70del) - VUS g.52899633_52899644del g.52033467_52033478del - - SGCB_000122 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 2 2, 3 c.212T>G r.(?) p.(Leu71Arg) - pathogenic g.52899628A>C g.52033462A>C - - SGCB_000079 - PubMed: Semplicini 2015, Journal: Semplicini 2015, PubMed: Trabelsi 2008 - - Germline - - - - - Johan den Dunnen, Jamie Zeegers
+/. 1 - c.214_215del r.(?) p.(Leu72Valfs*26) - pathogenic (recessive) g.52899625_52899626del g.52033459_52033460del - - SGCB_000147 - PubMed: Ten Dam 2019 - - Germline - - - - - Ieke Ginjaar
?/. 1 2i c.243+2T>G r.spl? p.(?) - VUS g.52899595A>C g.52033429A>C - - SGCB_000068 - - - - Germline - - - - - Gabriele Dekomien
+/. 1 2i c.243+3_243+6del r.243_244ins243+1_243+2ins243+7_243+10 p.Ile81_Ile82insValPhe - pathogenic g.52899594_52899597del g.52033428_52033431del - - SGCB_000051 - PubMed: Barresi 2000, OMIM:var0009 - - Germline - - - - - Johan den Dunnen
+/., ?/. 6 2i c.243+5G>A r.(spl?) p.(?) - pathogenic, VUS g.52899592C>T g.52033426C>T IVS2+5G>A - SGCB_000062 - PubMed: Klinge 2008 - - Germline - - - - - Johan den Dunnen, Gabriele Dekomien
+/. 1 2i c.243+6T>A r.243_244insgugagaauuu p.Ile82Valfs*20 ACMG pathogenic (recessive) g.52899591A>T - - - SGCB_000166 ACMG PVS1, PM2, PP1, PP4 PubMed: Xie 2022, Journal: Xie 2022 - - Germline yes - - - - Johan den Dunnen
+/. 1 2i c.243+1558C>T r.243_244ins243+1470_243+1556 p.Ile82Leufs*24 ACMG likely pathogenic (recessive) g.52898039G>A - - - SGCB_000165 ACMG PVS1, PM2, PP1, PP4 PubMed: Xie 2022, Journal: Xie 2022 - - Germline yes - - - - Johan den Dunnen
+/. 1 2i c.243+1576C>G r.243_244ins243+1470_243+1575 p.Ile82Leufs*24 ACMG pathogenic (recessive) g.52898021G>C - - - SGCB_000167 ACMG PVS1, PM2, PP4 PubMed: Xie 2022, Journal: Xie 2022 - - Germline - - - - - Johan den Dunnen
-/. 1 2i c.244-761T>C r.(=) p.(=) - benign g.52896790A>G g.52030624A>G - - SGCB_000046 - - - rs225172 Germline - 0.59 - - - Johan den Dunnen
-/. 1 2i c.244-622T>C r.(=) p.(=) - benign g.52896651A>G g.52030485A>G - - SGCB_000045 - - - rs178724 Germline - 0.59 - - - Johan den Dunnen
-/., -?/. 6 2i c.244-21T>C r.(=), r.(?) p.(=) - benign, likely benign g.52896050A>G g.52029884A>G 224-21T>C - SGCB_000025 parents homozygous from website {DBsub-Emory}, PubMed: Barresi 2000, PubMed: Sylvius - rs225170 Germline, Unknown - 0.55, ? - - - Johan den Dunnen, Ieke Ginjaar, Madhuri Hegde
+/. 3 2i c.244-2A>G r.spl? p.(?), p.? - pathogenic g.52896031T>C g.52029865T>C - - SGCB_000011 - PubMed: Duggan, PubMed: Khadlikar 2009, PubMed: Love - - Germline - - - - - Johan den Dunnen
+?/. 1 2i c.244-1G>A r.spl p.? - likely pathogenic g.52896030C>T g.52029864C>T - - SGCB_000163 Novel variant (2021) MDCRC 2021, submitted - - Germline/De novo (untested) - - - - - Lakshmi Bremadesam
?/. 1 3 c.251T>C r.(?) p.(Leu84Pro) - VUS g.52896022A>G g.52029856A>G - - SGCB_000121 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 6 3 c.265G>A r.(?) p.(Val89Met) - pathogenic, pathogenic (recessive) g.52896008C>T g.52029842C>T - - SGCB_000029 - Dincer 2004, Acta Myologica XXIII: 67, from website {DBsub-Emory}, PubMed: Yis 2018 - - Germline, Unknown - - - - - Johan den Dunnen, Madhuri Hegde
+/., +?/. 12 3 c.271C>T r.(?), r.271c>u p.(Arg91Cys), p.(Arg91Cys†), p.Arg91Cys ACMG likely pathogenic, pathogenic, pathogenic (recessive) g.52896002G>A g.52029836G>A - - SGCB_000016 no second variant, no variant 2nd chromosome, 1 more item PubMed: Cagliani, PubMed: Duclos 1998, PubMed: Ganapathy 2019, PubMed: Guglieri 2007, 2 more items - rs555514820 Germline - - HinfI- - - Johan den Dunnen, Madhuri Hegde, Andreas Laner
+/. 6 3 c.272G>C r.(?) p.(Arg91Pro) - pathogenic g.52896001C>G g.52029835C>G - - SGCB_000005 - PubMed: Bonnemann, PubMed: Moreira 2003, OMIM:var0005 - - Germline - - - - - Johan den Dunnen
+/. 2 3 c.272G>T r.(?) p.(Arg91Leu) - pathogenic g.52896001C>A g.52029835C>A - - SGCB_000008 - PubMed: Bonnemann, OMIM:var0008 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.273_292del r.(?) p.(Ile92*) ACMG pathogenic (recessive) g.52895981_52896000del g.52029815_52029834del - - SGCB_000145 ACMG PVS1, PM2, PP4 PubMed: Xie 2019 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.274_275delinsTC r.(?) p.(Ile92Ser) - pathogenic g.52895998_52895999delinsGA g.52029832_52029833delinsGA - - SGCB_000028 - Dincer 2004, Acta Myologica XXIII: 67 - - Germline - - - - - Johan den Dunnen
+/. 7 3 c.275T>C r.(?) p.(Ile92Thr) - pathogenic g.52895998A>G g.52029832A>G - - SGCB_000026 - Dincer 2004, Acta Myologica XXIII: 67, PubMed: Semplicini 2015, Journal: Semplicini 2015 - - Germline - - - - - Johan den Dunnen, Ieke Ginjaar, Jamie Zeegers
?/. 1 3 c.286G>C r.(?) p.(Gly96Arg) - VUS g.52895987C>G g.52029821C>G - - SGCB_000155 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
+/. 7 1, 3 c.299T>A r.(?), r.299u>a p.(Met100Lys), p.Met100Lys - pathogenic g.52895974A>T g.52029808A>T - - SGCB_000007 - Rivas 2004, Acta Myologica XXIII: 159, {DB: Porto}, PubMed: Moreira 2003, 1 more item - - Germline - - - - - Johan den Dunnen, Rosário dos Santos
+/. 3 3 c.323T>G r.(?), r.(spl?) p.(Leu108Arg) - pathogenic, pathogenic (recessive) g.52895950A>C g.52029784A>C - - SGCB_000006 - PubMed: Alcantara-Ortigoza 2019, PubMed: Bonnemann, PubMed: Moreira 2003, OMIM:var0006 - rs104893870 Germline - - - - - Johan den Dunnen, Miguel Angel Alcántara-Ortigoza
+/., +?/. 3 3 c.325C>T r.(?) p.(Arg109*) - likely pathogenic, pathogenic g.52895948G>A g.52029782G>A - - SGCB_000056 combination of variants not reported, not in 320 control chromosomes PubMed: Guglieri 2007, PubMed: Topf 2020 - - Germline - 2/1001 cases - - - Johan den Dunnen
+/. 3 3 c.334C>T r.(?), r.333_429del p.(Gln112*), p.Gln112Leufs*12 ACMG pathogenic (recessive) g.52895939G>A g.52029773G>A - - SGCB_000141 ACMG PVS1, PM2, PP4, no variant 2nd chromosome, no variant found on 2nd chromosome PubMed: Xie 2019, PubMed: Xie 2022, Journal: Xie 2022, PubMed: Yu 2017 - - Germline - - - - - Johan den Dunnen
+/. 2 3 c.334_337del r.(?) p.(Gln112Tyrfs*6) - pathogenic g.52895939_52895942del g.52029773_52029776del - - SGCB_000080 - PubMed: Semplicini 2015, Journal: Semplicini 2015, PubMed: Trabelsi 2008 - - Germline - - - - - Johan den Dunnen, Jamie Zeegers
?/. 1 - c.335A>T r.(?) p.(Gln112Leu) ACMG VUS g.52895938T>A g.52029772T>A - - SGCB_000156 - PubMed: Chakravorty 2020 - - Germline - - - - - Johan den Dunnen
+/., +?/., ?/. 96 3 c.341C>T r.(=), r.(?), r.341c>u p.(Ser114Phe), p.Ser114Phe ACMG likely pathogenic, pathogenic, pathogenic (recessive), VUS g.52895932G>A g.52029766G>A SGCB(NM_000232.4):c.341C>T (p.(Ser114Phe)) - SGCB_000012 ACMG grading: PS3, PM1, combination of variants not reported, no second variant, 6 more items Ginjaar WMS2005, {DB: Newcastle}, PubMed: Crosbie 2000, PubMed: Duggan, PubMed: Fichna 2018, 11 more items - rs150518260 CLASSIFICATION record, Germline - 2/1001 cases - - - Johan den Dunnen, Ieke Ginjaar, Gabriele Dekomien, Madhuri Hegde, Tom Winder, Vikki Stefans, Andreas Laner, Jamie Zeegers, VKGL-NL_Leiden, MobiDetails
?/. 1 3 c.345C>T r.(?) p.(=) - VUS g.52895928G>A g.52029762G>A - - SGCB_000120 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/., ?/. 4 3 c.346A>G r.(?) p.(Met116Val) ACMG likely pathogenic (recessive), VUS g.52895927T>C g.52029761T>C SGCB(NM_000232.4):c.346A>G (p.M116V) - SGCB_000119 VKGL data sharing initiative Nederland PubMed: Chakravorty 2020, PubMed: Ganapathy 2019, PubMed: Nallamilli 2018 ClinVar-RCV000407437.1 rs752168132 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, Madhuri Hegde, VKGL-NL_VUmc, Micaela Carcione
+/., +?/., ?/. 9 3 c.355A>T r.(?), r.355a>u p.(Ile119Phe), p.Ile119Phe ACMG likely pathogenic, pathogenic, VUS g.52895918T>A g.52029752T>A - - SGCB_000017 ACMG PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4, variant apparently homozygous, 1 more item MDCRC 2021, submitted, PubMed: Duclos 1998, PubMed: Monies 2016, PubMed: Nallamilli 2018, 1 more item - rs762412447 Germline, Germline/De novo (untested) - - Sau3A- - - Johan den Dunnen, Madhuri Hegde, Tom Winder, Lakshmi Bremadesam
+?/. 1 - c.356T>A r.(?) p.(Ile119Asn) ACMG likely pathogenic g.52895917A>T g.52029751A>T - - SGCB_000098 ACMG grading: PM2, PM5, PP2, PP3; additional variants in PLEC x2, TRAPPC11, HSPG2 x2, TTN PubMed: Fichna 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.366_367del r.(?) p.(Tyr123*) ACMG pathogenic (recessive) g.52895906_52895907del g.52029740_52029741del 366_367delTT - SGCB_000144 ACMG PVS1, PM2, PP1, PP4 PubMed: Xie 2019 - - Germline - - - - - Johan den Dunnen
?/. 1 3 c.368A>C r.(?) p.(Tyr123Ser) - VUS g.52895905T>G g.52029739T>G - - SGCB_000118 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-/. 1 3 c.376A>G r.(?) p.(Thr126Ala) - benign g.52895897T>C g.52029731T>C - - SGCB_000034 - - - rs11541943 Germline - - - - - Johan den Dunnen
+/. 31 3 c.377_384dup r.(?), r.377_384dup p.(Gly129Glnfs*2), p.(Gly129Glnfs*2†), p.Gly129Glnfs*2 - pathogenic, pathogenic (recessive) g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Barresi 2000, OMIM:var0003, PubMed: Bonnemann, PubMed: Duggan, OMIM:var0003, PubMed: Duggan, 5 more items - - Germline - - - - - Johan den Dunnen, Jamie Zeegers
?/. 1 3 c.380T>C r.(?) p.(Val127Ala) - VUS g.52895893A>G g.52029727A>G - - SGCB_000117 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 - c.391C>T r.(?) p.(Arg131Ter) - pathogenic g.52895882G>A g.52029716G>A - - SGCB_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 3 c.392G>A r.(?) p.(Arg131Gln) - VUS g.52895881C>T g.52029715C>T - - SGCB_000116 no second variant, Sequencing unsuccessful for ~13% of exons (no second variant) PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.398A>G r.(?) p.(Glu133Gly) - VUS g.52895875T>C g.52029709T>C - - SGCB_000030 - PubMed: Love - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.416G>A r.416g>a p.Gly139Asp - pathogenic g.52895857C>T g.52029691C>T - - SGCB_000013 - PubMed: Duggan - - Germline - - - - - Johan den Dunnen
-/. 1 3i c.430-328C>T r.(=) p.(=) - benign g.52895415G>A g.52029249G>A - - SGCB_000042 - - - rs172817 Germline - 0.34 - - - Johan den Dunnen
-?/. 1 - c.430-10T>C r.(=) p.(=) - likely benign g.52895097A>G g.52028931A>G SGCB(NM_000232.4):c.430-10T>C - SGCB_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 3i c.430-5dup r.spl? p.? - VUS g.52895099dup g.52028933dup 430-5dupT - SGCB_000115 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 27 4 c.452C>G r.(?), r.452c>g p.(Thr151Arg), p.Thr151Arg - pathogenic g.52895065G>C g.52028899G>C - - SGCB_000001 variant apparently homozygous, variant apparently homozygous; no second variant Pyatt ASHG2008-P304, PubMed: Duclos 1998, PubMed: Lim 1995, OMIM:var0001, PubMed: Nallamilli 2018 - - Germline, Uniparental disomy - - - - - Johan den Dunnen, Madhuri Hegde, Tom Winder
?/. 1 - c.458T>C r.(?) p.(Leu153Pro) - VUS g.52895059A>G g.52028893A>G - - SGCB_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
Legend   How to query   « First ‹ Prev     1 2     Next › Last »