Unique variants in the BSCL2 gene

BSCL2-seipinopathies variation databases - curated by the neurogenetics and metabolic-thyroid disease groups, Instituto de Investigaciones Sanitarias de Santiago de Compostela (IDIS-SERGAS), Spain.
This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_001122955.3 transcript reference sequence.

82 entries on 1 page. Showing entries 1 - 82.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

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.-17108C>G r.(?) p.(=) - - - - VUS g.62491775G>C g.62724303G>C HNRNPUL2(NM_001079559.2):c.662C>G (p.A221G) - GNG3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-15669G>A r.(?) p.(=) - - - - likely benign g.62490336C>T - HNRNPUL2(NM_001079559.2):c.931G>A (p.(Val311Ile)) - GNG3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/? 1 1 c.-51C>G r.(?) p.(=) - - - - VUS g.62474718G>C g.62707246G>C - - BSCL2_000026 not in 356 control chromosomes - - rs181391402 Unknown ? 1000G=0.05 - - - María-Jesús Sobrido
-/., -?/., -?/?, ?/? 7 1 c.60C>G r.(?) p.(Asp20Glu) benign 0.002 Tolerated (1.00) - benign, likely benign, VUS g.62474608G>C g.62707136G>C BSCL2(NM_001122955.3):c.60C>G (p.D20E, p.(Asp20Glu)) - BSCL2_000025 1 in 356 control chromosomes, VKGL data sharing initiative Nederland - - rs115116507 CLASSIFICATION record, Germline, Unknown no, yes 1000G=3.00;EVS=3.99 - - - María-Jesús Sobrido, Sergio Piñeiro, VKGL-NL_Leiden, VKGL-NL_AMC
+/. 2 - c.62A>T r.(?) p.(Gln21Leu) - - - - pathogenic (recessive) g.62474606T>A g.62707134T>A - - BSCL2_000078 - PubMed: Akinci 2016 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.88-662C>A r.(=) p.(=) - - - - likely benign g.62473751G>T g.62706279G>T - - BSCL2_000079 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117597269 Germline - 3/2767 individuals - - - Mohammed Faruq
?/? 1 1i c.88-62C>G r.(=) p.(=) - - - - VUS g.62473151G>C g.62705679G>C - - BSCL2_000027 not in 314 control chromosomes - - - Germline - - - - - María-Jesús Sobrido
?/. 1 - c.100G>A r.(?) p.(Ala34Thr) - - - - VUS g.62473077C>T g.62705605C>T BSCL2(NM_001122955.3):c.100G>A (p.A34T) - GNG3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/., -?/., ?/? 4 2 c.124C>T r.(?) p.(Arg42Cys) possiblyDamaging 0.736 Deleterious(0.00) ACMG likely benign, VUS g.62473053G>A g.62705581G>A BSCL2(NM_001122955.3):c.124C>T (p.R42C) - BSCL2_000028 1 in 348 control chromosomes, ACMG: PP2-BS1, VKGL data sharing initiative Nederland PubMed: Ferese 2021 SCV001148309.4 rs201493373 CLASSIFICATION record, Germline, Unknown no EVS=0.07 - - - María-Jesús Sobrido, VKGL-NL_Utrecht, VKGL-NL_AMC, Yvet den Hartog
-?/. 1 - c.131G>A r.(?) p.(Gly44Asp) - - - - likely benign g.62473046C>T - BSCL2(NM_001122955.3):c.131G>A (p.G44D) - GNG3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.133G>A r.(?) p.(Gly45Ser) - - - - VUS g.62473044C>T g.62705572C>T BSCL2(NM_001122955.3):c.133G>A (p.G45S) - GNG3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 1 2 c.166G>A r.(?) p.(Gly56Arg) possiblyDamaging 0.490 Deleterious(0.00) - VUS g.62473011C>T g.62705539C>T - - BSCL2_000029 not in 356 control chromosomes - - - Germline - - - - - María-Jesús Sobrido
?/. 1 - c.184C>T r.(?) p.(Leu62Phe) - - - - VUS g.62472993G>A g.62705521G>A BSCL2(NM_001122955.3):c.184C>T (p.L62F) - GNG3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/? 1 2 c.232C>A r.(?) p.(Gln78Lys) possiblyDamaging 0.829 Tolerated (0.07) - VUS g.62472945G>T g.62705473G>T - - BSCL2_000031 not in 356 control chromosomes - - - Germline - - - - - María-Jesús Sobrido
+/. 4 - c.280C>T r.(?) p.(Gln94*) - - - - pathogenic (recessive) g.62472897G>A g.62705425G>A - - BSCL2_000077 - PubMed: Akinci 2016 - - Germline - - - - - Johan den Dunnen
+/? 5 2 c.346_347dup r.(?) p.(Tyr117SerfsTer40) - - - - pathogenic g.62472830_62472831dup g.62705358_62705359dup 500insTT (F53fsX93 ) - BSCL2_000001 - PubMed: Agarwal 2003 - - Germline yes - - - - María-Jesús Sobrido
+/?, ?/? 11 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) - - - - pathogenic, VUS g.62472791_62472792delinsTCC g.62705319_62705320delinsTCC 536delCCinsGGA (F63fsX75), V99IfsX49 - BSCL2_000044 - PubMed: Boutet et al., Biochimie 2009, PubMed: Magre 2001 - - Germline, Unknown ?, yes - - - - Johan den Dunnen, María-Jesús Sobrido
+/? 3 2 c.386delinsGGA r.(?) p.(Pro129ArgfsTer28) - - - - pathogenic g.62472791delinsTCC g.62705319delinsTCC 537delCinsGGA (S64fsX91) - BSCL2_000004 - PubMed: Agarwal 2003 - - Germline yes - - - - María-Jesús Sobrido
+/? 1 2i c.405-11A>G r.404_405ins405-10_405-1 p.Arg135SerfsTer4 - - - - pathogenic g.62470032T>C g.62702560T>C IVS2-11A>G - BSCL2_000008 - PubMed: Mandal 2006 - - Unknown ? - - - - María-Jesús Sobrido
+/? 2 3 c.424A>G r.(?) p.(Thr142Ala) - - - - pathogenic g.62470002T>C g.62702530T>C c.424A>G; p.T142A - BSCL2_000062 - PubMed: Miranda 2009 - - Unknown ? - - - - María-Jesús Sobrido
?/. 1 - c.446C>T r.(?) p.(Pro149Leu) - - - - VUS g.62469980G>A g.62702508G>A - - BSCL2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +/?, ?/? 35 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69) - pathogenic, pathogenic (dominant), VUS g.62469971T>C g.62702499T>C 263A>G (Asn88Ser), 263A>G (N88S), BSCL2(NM_032667.6):c.263A>G (p.N88S), 1 more item - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site, VKGL data sharing initiative Nederland PubMed: Antoniadi 2015, PubMed: Bienfait 2007, PubMed: Brusse et al., Neurogenetics 2009, 10 more items - rs137852972 CLASSIFICATION record, Germline, Unknown ?, yes - - - - Johan den Dunnen, María-Jesús Sobrido, VKGL-NL_Utrecht, VKGL-NL_AMC
+/. 1 - c.460T>C r.(?) p.(Ser154Pro) - - - - pathogenic g.62469966A>G g.62702494A>G BSCL2(NM_001122955.3):c.460T>C (p.S154P) - BSCL2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/., +/?, ?/? 16 3 c.461C>T r.(?) p.(Ser154Leu) possiblyDamaging 0.814 Tolerated (0.46) - pathogenic, pathogenic (dominant), VUS g.62469965G>A g.62702493G>A 269C>T (p.S90L), 269C>T (S90L), 269C>T (Ser90Leu), NM_032667.6:c.269C>T, 1 more item - BSCL2_000006 not in 1100 control chromosomes; affects N-glycosylation site, VKGL data sharing initiative Nederland, 1 more item PubMed: Antoniadi 2015, PubMed: Cho 2007, PubMed: Dierick et al., Brain 2008, PubMed: Rohkamm 2007, 3 more items - rs137852973 CLASSIFICATION record, De novo, Germline ?, yes - - - - Johan den Dunnen, María-Jesús Sobrido, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/? 3 3 c.464T>C r.(?) p.(Leu155Pro) - - - - pathogenic g.62469962A>G g.62702490A>G c.464T>C; p.L155P - BSCL2_000063 - PubMed: Miranda 2009 - - Germline yes - - - - María-Jesús Sobrido
+/. 2 - c.465_468del r.(?) p.(Thr156Argfs*8) - - - - pathogenic (recessive) g.21889760G>A, g.62469960_62469963del g.21563267G>A, g.62702488_62702491del - - ALPL_000002 - PubMed: Akinci 2016 - - Germline - - - - - Gerard C.P. Schaafsma, Johan den Dunnen
-/., -/?, ?/? 6 3i c.486+11G>T r.(=) p.(=) - - - - benign, VUS g.62469929C>A g.62702457C>A 294+11G>T, BSCL2(NM_001122955.3):c.486+11G>T - BSCL2_000010 VKGL data sharing initiative Nederland PubMed: Brugman et al., J. Neurol. 2009, PubMed: Rohkamm 2007 - rs72929434 CLASSIFICATION record, Germline, Unknown - 1000G=15.00;EVS=18.5 - - - Johan den Dunnen, María-Jesús Sobrido, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/? 1 3i c.487-34A>T r.(=) p.(=) - - - - benign g.62462217T>A g.62694745T>A 295-34A>T - BSCL2_000011 - PubMed: Rohkamm 2007 - rs181164682 Germline - 1000G=0.60;EVS=0.51 - - - María-Jesús Sobrido
-?/. 1 - c.487-14G>A r.(=) p.(=) - - - - likely benign g.62462197C>T g.62694725C>T BSCL2(NM_001122955.3):c.487-14G>A - BSCL2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.487-2A>C r.spl? p.? - - - - VUS g.62462185T>G g.62694713T>G BSCL2(NM_001122955.3):c.487-2A>C - BSCL2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/? 2 3i_6i c.487-?_863+?del r.(del) p.(del) - - - - pathogenic g.(62458893_62459848)_(62462183_62469940)del - - - BSCL2_000039 deletion exons 4-6 PubMed: Magre 2001 - - Germline yes - - - - María-Jesús Sobrido
+/? 3 4 c.493_494insAA r.(?) p.(Met165LysfsTer11) - - - - pathogenic g.62462177_62462178insTT g.62694705_62694706insTT 645insAA (F100fsX111) - BSCL2_000047 - PubMed: Magre 2001 - - Germline yes - - - - María-Jesús Sobrido
+/? 1 4 c.507_508del r.(?) p.(Tyr170SerfsTer7) - - - - pathogenic g.62462162_62462163del g.62694690_62694691del 659delGT (F105fsX112) - BSCL2_000049 - PubMed: Magre 2001 - - Germline yes - - - - María-Jesús Sobrido
+/?, ?/? 38 4 c.509_513del r.(?) p.(Tyr170Cysfs*6), p.(Tyr170CysfsTer6) - - - - pathogenic, VUS g.62462160_62462164del g.62694688_62694692del 507_511del, 659delGTATC, 659delGTATC (F105fsX111), Y106CfsX6 - BSCL2_000042 - PubMed: Agarwal 2003, PubMed: Boutet et al., Biochimie 2009, PubMed: Guillen-Navarro 2013, 2 more items - - Germline, Unknown ?, yes - - - - Johan den Dunnen, María-Jesús Sobrido
+/?, ?/? 34 4 c.517dup r.(?) p.(Thr173Asnfs*5), p.(Thr173AsnfsTer5) - - - - pathogenic, VUS g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Agarwal 2003, PubMed: Bhayana et al., Clin. Genet. 2002, PubMed: Magre 2001, 2 more items - - Germline ?, yes - - - - Johan den Dunnen, María-Jesús Sobrido
+/? 2 4 c.538G>T r.(?) p.(Glu180Ter) - - - - pathogenic g.62462132C>A g.62694660C>A - - BSCL2_000041 - PubMed: Guillen-Navarro 2013 - - Germline yes - - - - Johan den Dunnen
+?/. 1 4 c.566T>A r.(?) p.(Met189Lys) - - - - likely pathogenic g.62462104A>T g.62694632A>T - - BSCL2_000075 - - - - Germline yes - - - - David Araujo-Vilar
-?/. 1 - c.588C>T r.(?) p.(Cys196=) - - - - likely benign g.62462082G>A - BSCL2(NM_001122955.3):c.588C>T (p.C196=) - GNG3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/? 10 4 c.604C>T r.(?) p.(Arg202Ter) - - - - pathogenic g.62462066G>A g.62694594G>A 412C>T (R138X), 412C>T (R138X, F63fsX75) - BSCL2_000022 - PubMed: Magre 2001, PubMed: Miranda 2009 - rs137852970 Germline, Unknown ?, yes - - - - María-Jesús Sobrido
?/. 1 - c.614C>T r.(?) p.(Ser205Phe) - - - - VUS g.62462056G>A g.62694584G>A BSCL2(NM_001122955.3):c.614C>T (p.S205F) - GNG3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +/? 6 4i c.630+1G>A r.487_630del, r.spl p.?, p.Val163_Ser210del - - - - pathogenic, pathogenic (recessive) g.62462039C>T g.62694567C>T IVS4+1G>A (delV99-S146) - BSCL2_000046 - PubMed: Akinci 2016, PubMed: Magre 2001 - - Germline yes - - - - Johan den Dunnen, María-Jesús Sobrido
-?/. 1 - c.630+15C>A r.(=) p.(=) - - - - likely benign g.62462025G>T g.62694553G>T BSCL2(NM_001122955.3):c.630+15C>A - BSCL2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/., ?/? 2 4i c.631-2A>C r.spl? p.? - - - - VUS g.62460271T>G g.62692799T>G BSCL2(NM_001122955.3):c.631-2A>C, c.439-2 A>C (V147fsx59) - BSCL2_000058 VKGL data sharing initiative Nederland Jeninga 2013 - - CLASSIFICATION record, Germline ? - - - - Sergio Piñeiro, VKGL-NL_Utrecht
+/? 1 4i_6i c.631-?_863+?delins12 r.(del) p.(del) - - - - pathogenic g.(62458893_62459848)_(62460269_62462040)delins12 - delins exon 5-6 - BSCL2_000037 258 bp deletion/12 bp insertion exons 5-6 PubMed: Magre 2001 - - Germline yes - - - - María-Jesús Sobrido
+/. 1 - c.631del r.(?) p.(Val211*) - - - - pathogenic (recessive) g.62460270del g.62692798del - - BSCL2_000076 - PubMed: Akinci 2016 - - Germline - - - - - Johan den Dunnen
?/? 1 5 c.636delC r.(?) p.(?) - - - - VUS g.62460264delG g.62692792delG c.636 delC (Tyr213Thrfsx20) - BSCL2_000056 1 more item Rahman 2013 - - Germline ? - - - - Sergio Piñeiro
?/? 2 5 c.745G>A r.(?) p.(Ala249Thr) benign 0.050 Tolerated (0.14) - VUS g.62460155C>T g.62692683C>T - - BSCL2_000032 1 in 356 control chromosomes - - rs10776 Unknown - 1000G=0.10;EVS=0.02 - - - María-Jesús Sobrido
?/? 1 5 c.752A>G r.(?) p.(Tyr251Cys) - - - - VUS g.62460148T>C g.62692676T>C c.560 A>G (Y187C) - BSCL2_000054 - Nishiyama 2009 - - Germline yes - - - - Sergio Piñeiro
+/?, ?/? 7 5 c.757G>T r.(?) p.(Glu253Ter) - - - - pathogenic, VUS g.62460143C>A g.62692671C>A 565G>T (Glu189X), 909G>T (Glu189X) - BSCL2_000015 - PubMed: Friguls et al., Eur. J. Med. Genet. 2009, PubMed: Jin 2007, 1 more item - rs137852975 Germline yes - - - - Johan den Dunnen, María-Jesús Sobrido, Sergio Piñeiro
-/. 1 - c.765+15C>T r.(=) p.(=) - - - - benign g.62460120G>A g.62692648G>A BSCL2(NM_001122955.3):c.765+15C>T - BSCL2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/? 3 5i c.766-49T>C r.(=) p.(=) - - - - benign g.62459994A>G g.62692522A>G 574-49T>C - BSCL2_000012 - PubMed: Rohkamm 2007 - rs2850597 Germline - 1000G=25.5;EVS=26.95 - - - María-Jesús Sobrido
+/? 2 5i c.766-2A>G r.spl p.? - - - - pathogenic g.62459947T>C g.62692475T>C IVS5-2A>G - BSCL2_000017 - PubMed: Miranda 2009 - - Unknown ? - - - - María-Jesús Sobrido
?/. 1 - c.808C>T r.(?) p.(Arg270Cys) - - - - VUS g.62459903G>A - BSCL2(NM_032667.6):c.616C>T (p.R206C) - GNG3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.823G>A r.(?) p.(Gly275Arg) - - - - likely benign g.62459888C>T - BSCL2(NM_001122955.3):c.823G>A (p.(Gly275Arg)) - GNG3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/?, ?/? 11 6 c.826G>C r.(?) p.(Ala276Pro) - - - - pathogenic, VUS g.62459885C>G g.62692413C>G 978G>C (Ala212Pro), p.A212P - BSCL2_000043 - PubMed: Boutet et al., Biochimie 2009, PubMed: Magre 2001 - rs137852971 Germline, Unknown ?, yes - - - - Johan den Dunnen, María-Jesús Sobrido
+/? 4 6 c.828del r.(?) p.(Tyr277ThrfsTer20) - - - - pathogenic g.62459884del g.62692412del 636delC (Tyr213Thrfs), 980delC (F213fsX232) - BSCL2_000009 - PubMed: Magre 2001, PubMed: Mandal 2006 - - Germline, Unknown ?, yes - - - - María-Jesús Sobrido
-?/., ?/. 2 - c.844G>A r.(?) p.(Ala282Thr) - - - - likely benign, VUS g.62459867C>T g.62692395C>T BSCL2(NM_001122955.3):c.844G>A (p.A282T) - GNG3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
+/? 1 6 c.844_854del r.(?) p.(His281HisfsTer33) - - - - pathogenic g.62459860_62459870del g.62692388_62692398del 652_662del (H217fsX272) - BSCL2_000016 - PubMed: Shirwalkar 2008 - - Unknown ? - - - - María-Jesús Sobrido
?/? 1 6 c.845C>T r.(?) p.(Ala282Val) probablyDamaging 1.000 Tolerated (0.27) - VUS g.62459866G>A g.62692394G>A - - BSCL2_000033 not in 356 control chromosomes - - rs185341934 Germline no 1000G=0.4 - - - María-Jesús Sobrido
-?/. 2 - c.861C>T r.(?) p.(Leu287=) - - - - likely benign g.62459850G>A g.62692378G>A BSCL2(NM_001122955.3):c.861C>T (p.L287=) - BSCL2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
+/? 3 6i c.863+5G>A r.863_864ins[gugaa;863+6_863+77] p.Tyr289Ter - - - - pathogenic g.62459843C>T g.62692371C>T IVS6+5G>A (F224fsX225) - BSCL2_000045 - PubMed: Agarwal 2003, PubMed: Magre 2001 - - Germline yes - - - - María-Jesús Sobrido
+/?, ?/? 8 6i c.864-3C>G r.864_1005del, r.spl p.?, p.?), p.Tyr289LeufsTer64 - - - - pathogenic, VUS g.62458896G>C g.62691424G>C IVS6-3C>G (delY225-Q271fsX288), IVS6-3C>G (Q271fsX288), Y225LfsX64 - BSCL2_000050 - PubMed: Agarwal 2003, PubMed: Boutet et al., Biochimie 2009, PubMed: Magre 2001 - - Germline, Unknown ?, yes - - - - Johan den Dunnen, María-Jesús Sobrido
+/? 5 6i c.864-2A>G r.spl p.? - - - - pathogenic g.62458895T>C g.62691423T>C IVS6-2A>G (F224delY225-) - BSCL2_000003 - PubMed: Agarwal 2003 - - Germline yes - - - - María-Jesús Sobrido
+/? 3 7 c.876C>G r.(?) p.(Tyr292Ter) - - - - pathogenic g.62458881G>C g.62691409G>C 1028C>G (L227X) - BSCL2_000003 - PubMed: Agarwal 2003 - - Germline yes - - - - María-Jesús Sobrido
?/. 1 - c.895G>A r.(?) p.(Ala299Thr) - - - - VUS g.62458862C>T g.62691390C>T BSCL2(NM_001122955.3):c.895G>A (p.A299T) - GNG3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.933C>T r.(?) p.(Ser311=) - - - - likely benign g.62458824G>A g.62691352G>A BSCL2(NM_001122955.3):c.933C>T (p.S311=) - GNG3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/?, ?/? 4 7 c.974dup r.(?) p.(Ile326HisfsTer12) - - - - pathogenic, VUS g.62458789dup g.62691317dup 1126insG (G271fsX283), c.974_975 insG - BSCL2_000002, BSCL2_000057 - Agarwal 2003PubMed: 1, Huang 2013, PubMed: Agarwal 2003 - - Germline ?, yes EVS=0,18 - - - María-Jesús Sobrido, Sergio Piñeiro
?/? 3 7 c.975dupG r.(?) p.(Ile326HisfsTer12) - - - - VUS g.62458782dup g.62691310dupC 783insG (I262fsX273) - BSCL2_000038 1 more item PubMed: Huang et al., Kaohsiung J. Med. Sci. 2010, 1 more item - - Germline ?, yes - - - - Johan den Dunnen, Sergio Piñeiro
+/? 22 7 c.985C>T r.(?) p.(Arg329Ter) - - - - pathogenic g.62458772G>A g.62691300G>A - - BSCL2_000040 founder haplotype PubMed: Guillen-Navarro 2013 - - Germline yes - - - - Johan den Dunnen
-/., -/? 2 7i c.1006-50T>G r.(=) p.(=) - - - - benign g.62458663A>C g.62691191A>C 814-50T>G - BSCL2_000013 43 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020, PubMed: Rohkamm 2007 - rs72929419 Germline - 43/2795 individuals - - - María-Jesús Sobrido, Mohammed Faruq
+/?, ?/? 11 8 c.1015C>T r.(?) p.(Arg339Ter) - - - - pathogenic, VUS g.62458604G>A, g.62458604G>C g.62691132G>A 823C>T (p.R275X), 823C>T (R275X) - BSCL2_000007, BSCL2_000024 1 more item PubMed: Ebihara 2004, PubMed: Nishiyama 2009, PubMed: Nishiyama et al., Pediatr. Int. 2009 - rs137852974 Germline, Unknown ?, yes - - - - Johan den Dunnen, María-Jesús Sobrido
-?/., ?/. 2 - c.1100C>T r.(?) p.(Pro367Leu) - - - - likely benign, VUS g.62458312G>A g.62690840G>A BSCL2(NM_001122955.3):c.1100C>T (p.P367L) - BSCL2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
-/., -/? 4 9 c.1137A>G r.(?) p.(Glu379=), p.(Glu379Glu) - - - - benign g.62458275T>C g.62690803T>C 945A>G (E315E), 945A>G (E315EN), 1 more item - BSCL2_000014 VKGL data sharing initiative Nederland PubMed: Rohkamm 2007 - rs6856 CLASSIFICATION record, Germline - 1000G=15.0;EVS=18.32 - - - María-Jesús Sobrido, VKGL-NL_AMC
-?/?, ?/. 2 10 c.1210_1212del r.(?) p.(Glu404del) - - - - likely benign, VUS g.62458109_62458111del g.62690637_62690639del BSCL2(NM_001122955.3):c.1210_1212delGAG (p.E404del) - BSCL2_000034 not in 328 control chromosomes, VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline no EVS=0.14 - - - María-Jesús Sobrido, VKGL-NL_AMC
-?/? 2 10i c.1234+19C>A r.(=) p.(=) - - - - likely benign g.62458065G>T g.62690593G>T - - BSCL2_000035 3 in 328 control chromosomes - - - Germline no - - - - María-Jesús Sobrido
-/. 1 - c.1251A>G r.(?) p.(Glu417=) - - - - benign g.62457977T>C g.62690505T>C BSCL2(NM_001122955.3):c.1251A>G (p.E417=) - BSCL2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., ?/? 7 11 c.1280T>C r.(?) p.(Leu427Pro) benign 0.009 Tolerated (0.24) - likely benign, VUS g.62457948A>G g.62690476A>G BSCL2(NM_001122955.3):c.1280T>C (p.L427P), BSCL2(NM_032667.6):c.1088T>C (p.L363P) - BSCL2_000030 1 in 352 control chromosomes, VKGL data sharing initiative Nederland - - rs145649423 CLASSIFICATION record, Germline - 1000G=0.10;EVS=0.26 - - - María-Jesús Sobrido, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.1288C>T r.(?) p.(Pro430Ser) - - - - likely benign g.62457940G>A g.62690468G>A BSCL2(NM_001122955.3):c.1288C>T (p.P430S) - BSCL2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1334G>A r.(?) p.(Ser445Asn) - - - - VUS g.62457894C>T g.62690422C>T BSCL2(NM_001122955.3):c.1334G>A (p.S445N) - BSCL2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1361G>A r.(?) p.(Arg454Gln) - - - - VUS g.62457867C>T - BSCL2(NM_001122955.3):c.1361G>A (p.R454Q) - GNG3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/? 2 11 c.1363C>T r.(?) p.(Gln455Ter) - - - - pathogenic g.62457865G>A g.62690393G>A - - BSCL2_000021 - PubMed: Miranda 2009 - - Unknown ? - - - - María-Jesús Sobrido
?/., ?/? 2 11 c.1367G>A r.(?) p.(Arg456His) possiblyDamaging 0.675 Tolerated (0.15) - VUS g.62457861C>T g.62690389C>T BSCL2(NM_001122955.3):c.1367G>A (p.R456H) - BSCL2_000036 not in 356 control chromosomes, VKGL data sharing initiative Nederland - - rs149466797 CLASSIFICATION record, Germline - EVS=0.02 - - - María-Jesús Sobrido, VKGL-NL_Rotterdam
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