Unique variants in the HSPB1 gene

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_001540.3 transcript reference sequence.

50 entries on 1 page. Showing entries 1 - 50.
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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 c.-56C>T r.(?) p.(=) - benign g.75931974C>T g.76302657C>T 1-56C>T - HSPB1_000021 - PubMed: Kijima 2005 - - Germline no ? - - - Johan den Dunnen
-?/. 1 - c.-19C>T r.(?) p.(=) - likely benign g.75932011C>T g.76302694C>T HSPB1(NM_001540.3):c.-19C>T - HSPB1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 3 1 c.9G>A r.(?) p.(Glu3=) - benign, likely benign g.75932038G>A g.76302721G>A HSPB1(NM_001540.3):c.9G>A (p.E3=) - HSPB1_000004 VKGL data sharing initiative Nederland - - rs77586767 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam, VKGL-NL_AMC
+?/. 1 - c.19C>T r.(?) p.(Pro7Ser) - likely pathogenic (dominant) g.75932048C>T g.76302731C>T - - HSPB1_000042 - PubMed: Echaniz-Laguna 2017 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.24C>T r.(?) p.(Phe8=) - likely benign g.75932053C>T g.76302736C>T HSPB1(NM_001540.3):c.24C>T (p.F8=) - HSPB1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.45C>A r.(?) p.(Ser15Arg) - likely pathogenic (dominant) g.75932074C>A g.76302757C>A - - HSPB1_000039 - PubMed: Antoniadi 2015 - - Germline - - - - - Johan den Dunnen
-?/. 1 1 c.108C>G r.(?) p.(Pro36=) - likely benign g.75932137C>G g.76302820C>G - - HSPB1_000020 - PubMed: Kijima 2005 - - Germline no ? - - - Johan den Dunnen
+/., +?/. 9 1 c.116C>T r.(?) p.(Pro39Leu) - likely pathogenic (dominant), pathogenic, pathogenic (dominant) g.75932145C>T g.76302828C>T - - HSPB1_000018 - PubMed: Antoniadi 2015, PubMed: Echaniz-Laguna 2017, PubMed: Houlden 2008 - - De novo, Germline - - - - - Johan den Dunnen
+?/. 1 - c.158G>A r.(?) p.(Gly53Asp) - likely pathogenic (dominant) g.75932187G>A g.76302870G>A - - HSPB1_000043 - PubMed: Echaniz-Laguna 2017 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.165_171dup r.(?) p.(Leu58AlafsTer105) - pathogenic (dominant) g.75932194_75932200dup g.76302877_76302883dup - - HSPB1_000044 - PubMed: Echaniz-Laguna 2017 - - Germline - - - - - Johan den Dunnen
-?/. 2 - c.178C>T r.(?) p.(Pro60Ser) - likely benign g.75932207C>T g.76302890C>T HSPB1(NM_001540.3):c.178C>T (p.P60S) - HSPB1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
+?/. 1 - c.180dup r.(?) p.(Ala61ArgfsTer100) - likely pathogenic (dominant) g.75932209dup g.76302892dup - - HSPB1_000045 - PubMed: Echaniz-Laguna 2017 - - Germline - - - - - Johan den Dunnen
+/., +?/. 2 - c.250G>A r.(?) p.(Gly84Arg), p.Gly84Arg ACMG likely pathogenic, pathogenic g.75932279G>A g.76302962G>A - - HSPB1_000030 1 more item PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - Johan den Dunnen, Andreas Laner
+/., +?/. 3 1 c.250G>C r.(?) p.(Gly84Arg) - likely pathogenic, pathogenic g.75932279G>C g.76302962G>C 349G>C, G250C - HSPB1_000005 combination of variants not reported, not in 400 control chromosomes PubMed: Houlden 2008, PubMed: James 2008, PubMed: Topf 2020 - - Germline yes 1/1001 cases - - - Johan den Dunnen
+?/. 1 1 c.295C>A r.(?) p.(Leu99Met) - likely pathogenic g.75932324C>A g.76303007C>A C295A - HSPB1_000006 - PubMed: Houlden 2008, OMIM:var0008 - rs121909113 Germline - - - - - Johan den Dunnen
+?/. 1 - c.302T>C r.(?) p.(Val101Ala) ACMG likely pathogenic g.75932331T>C g.76303014T>C - - HSPB1_000031 ACMG pm1, pm2, pp2, pp3 PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline yes 1/612 cases - - - Johan den Dunnen
-?/. 1 - c.364+10C>G r.(=) p.(=) - likely benign g.75932403C>G g.76303086C>G HSPB1(NM_001540.3):c.364+10C>G - HSPB1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 1i c.365-60C>T r.(?) p.(=) - benign g.75933059C>T g.76303742C>T - - HSPB1_000001 - - - rs11769502 Germline - - - - - Andreas Laner
-?/. 1 1i c.365-13C>T r.(?) p.(=) - likely benign g.75933106C>T g.76303789C>T - - HSPB1_000019 - PubMed: Benedetti 2010 - - Germline - - - - - Johan den Dunnen
?/. 2 1i c.365-7C>G r.(=) p.(=) - VUS g.75933112C>G g.76303795C>G HSPB1(NM_001540.3):c.365-7C>G - HSPB1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam
-/. 1 1i c.365-7C>T r.(?) p.(=) - benign g.75933112C>T g.76303795C>T - - HSPB1_000022 - PubMed: Kijima 2005 - - Germline no ? - - - Johan den Dunnen
+/., ?/. 10 2 c.379C>T r.(?) p.(Arg127Trp) - pathogenic, pathogenic (dominant), VUS g.75933133C>T g.76303816C>T HSPB1(NM_001540.3):c.379C>T (p.R127W) - HSPB1_000007 VKGL data sharing initiative Nederland PubMed: Antoniadi 2015, PubMed: Benedetti 2010, PubMed: Echaniz-Laguna 2017, 1 more item - rs29001571 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+?/., ?/. 2 2 c.383A>G r.(?) p.(Gln128Arg) - likely pathogenic (dominant), VUS g.75933137A>G g.76303820A>G - - HSPB1_000046 - PubMed: Echaniz-Laguna 2017, PubMed: Ganapathy 2019 - rs558882005 Germline - - - - - Johan den Dunnen
?/. 1 - c.388G>A r.(?) p.(Glu130Lys) - VUS g.75933142G>A g.76303825G>A - - HSPB1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.404C>A r.(?) p.(Ser135Tyr) - pathogenic g.75933158C>A g.76303841C>A HSPB1(NM_001540.3):c.404C>A (p.S135Y) - HSPB1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 2 c.404C>G r.(?) p.(Ser135Cys) - pathogenic g.75933158C>G g.76303841C>G - - HSPB1_000008 - PubMed: Benedetti 2010 - - Germline yes - - - - Johan den Dunnen
+/. 16 2 c.404C>T r.(?) p.(Ser135Phe) - pathogenic, pathogenic (dominant) g.75933158C>T g.76303841C>T C525G, HSPB1(NM_001540.3):c.404C>T (p.S135F) - HSPB1_000009 different haplotype, variant on shared haplotype (Russia), VKGL data sharing initiative Nederland PubMed: Antoniadi 2015, PubMed: Echaniz-Laguna 2017, PubMed: Evgrafov 2004, OMIM:var0001, 1 more item - rs28939680 CLASSIFICATION record, De novo, Germline yes - - - - Johan den Dunnen, VKGL-NL_AMC
+/. 2 2 c.406C>T r.(?) p.(Arg136Trp) - pathogenic g.75933160C>T g.76303843C>T HSPB1(NM_001540.3):c.406C>T (p.R136W) - HSPB1_000010 VKGL data sharing initiative Nederland PubMed: Evgrafov 2004, OMIM:var0005 - rs28939681 CLASSIFICATION record, Germline yes - - - - Johan den Dunnen, VKGL-NL_AMC
?/. 1 - c.415A>G r.(?) p.(Thr139Ala) - VUS g.75933169A>G - HSPB1(NM_001540.3):c.415A>G (p.T139A) - HSPB1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/., ?/. 4 2 c.418C>G r.(?) p.(Arg140Gly) - pathogenic, VUS g.75933172C>G g.76303855C>G C404T - HSPB1_000011 - PubMed: Houlden 2008, OMIM:var0007 - rs121909112 Germline yes - - - - Johan den Dunnen, Carmen Espinós
?/. 1 - c.420_421del r.(?) p.(Lys141IlefsTer19) - VUS g.75933174_75933175del g.76303857_76303858del HSPB1(NM_001540.3):c.420_421delGA (p.K141Ifs*19) - HSPB1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 2 c.421A>C r.(?) p.(Lys141Gln) - pathogenic g.75933175A>C g.76303858A>C HSPB1(NM_001540.3):c.421A>C (p.K141Q) - HSPB1_000012 VKGL data sharing initiative Nederland PubMed: Ikeda 2009 - - CLASSIFICATION record, Germline yes - - - - Johan den Dunnen, VKGL-NL_AMC
?/. 1 - c.422_423insTT r.(?) p.(Lys141AsnfsTer24) - VUS g.75933176_75933177insTT g.76303859_76303860insTT HSPB1(NM_001540.3):c.422_423insTT (p.K141Nfs*24) - HSPB1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 2i c.428+33_428+47del r.(spl?) p.(?) - VUS g.75933215_75933229del g.76303898_76303912del - - HSPB1_000003 - - - - Germline - - - - - Andreas Laner
-?/. 1 - c.429-17C>T r.(=) p.(=) - likely benign g.75933284C>T g.76303967C>T HSPB1(NM_001540.3):c.429-17C>T - HSPB1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.438C>G r.(?) p.(Pro146=) - likely benign g.75933310C>G g.76303993C>G HSPB1(NM_001540.3):c.438C>G (p.P146=) - HSPB1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.438dup r.(?) p.(Gly147Argfs*14) ACMG likely pathogenic (dominant) g.75933310dup g.76303993dup - - HSPB1_000041 ACMG PVS1_STR, PS4_SUP, PM2_SUP; PMID: 28144995, 29381233, 22734906 - ClinVar-000916358 - Germline ? - - - - Andreas Laner
?/. 1 3 c.440G>A r.(?) p.(Gly147Asp) - VUS g.75933312G>A g.76303995G>A - - HSPB1_000049 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
+/., +?/. 5 3 c.452C>T r.(?) p.(Thr151Ile) - likely pathogenic, pathogenic, pathogenic (dominant) g.75933324C>T g.76304007C>T HSPB1(NM_001540.3):c.452C>T (p.T151I) - HSPB1_000013 VKGL data sharing initiative Nederland PubMed: Antoniadi 2015, PubMed: Echaniz-Laguna 2017, PubMed: Evgrafov 2004, OMIM:var0003 - rs28937568 CLASSIFICATION record, Germline yes - - - - Johan den Dunnen, Andreas Laner, VKGL-NL_AMC
+/. 1 3 c.476_477del r.(?) p.(Pro159Argfs*42) - pathogenic g.75933348_75933349del g.76304031_76304032del 476_477delCT - HSPB1_000014 - PubMed: Mandich 2010 - - Germline yes - - - - Johan den Dunnen
+/. 1 - c.490A>G r.(?) p.(Thr164Ala) - pathogenic (dominant) g.75933362A>G g.76304045A>G - - HSPB1_000040 - PubMed: Lin 2011 - - Germline - - - - - Johan den Dunnen
+/. 11 - c.523C>T r.(?) p.(Gln175Ter) - pathogenic (dominant) g.75933395C>T g.76304078C>T - - HSPB1_000047 - PubMed: Echaniz-Laguna 2017 - - Germline - - - - - Johan den Dunnen
+/. 2 3 c.539C>T r.(?) p.(Thr180Ile) - pathogenic, pathogenic (dominant) g.75933411C>T g.76304094C>T - - HSPB1_000015 - PubMed: Echaniz-Laguna 2017, PubMed: Luigetti 2010 - - De novo, Germline - - - - - Johan den Dunnen
+/., +?/. 2 3 c.544C>T r.(?) p.(Pro182Ser) - likely pathogenic, pathogenic g.75933416C>T g.76304099C>T HSPB1(NM_001540.3):c.544C>T (p.P182S) - HSPB1_000016 VKGL data sharing initiative Nederland PubMed: Kijima 2005, OMIM:var0006 - rs104894020 CLASSIFICATION record, De novo - 1/74 cases - - - Johan den Dunnen, VKGL-NL_AMC
+/., +?/. 2 3 c.545C>T r.(?) p.(Pro182Leu) - likely pathogenic, pathogenic g.75933417C>T g.76304100C>T HSPB1(NM_001540.3):c.545C>T (p.P182L) - HSPB1_000017 VKGL data sharing initiative Nederland PubMed: Evgrafov 2004, OMIM:var0004 - rs28937569 CLASSIFICATION record, Germline yes - - - - Johan den Dunnen, VKGL-NL_AMC
+?/. 1 - c.560C>T r.(?) p.(Ser187Leu) - likely pathogenic (dominant) g.75933432C>T g.76304115C>T - - HSPB1_000048 - PubMed: Echaniz-Laguna 2017 - - De novo - - - - - Johan den Dunnen
?/. 1 3 c.570G>C r.(?) p.(Gln190His) - VUS g.75933442G>C g.76304125G>C - - HSPB1_000023 - - - - Germline - - - - - Simona Capponi
?/. 1 - c.598G>A r.(?) p.(Asp200Asn) - VUS g.75933470G>A g.76304153G>A - - HSPB1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 3 c.610dup r.(?) p.(Ala204Glyfs*6) - VUS g.75933482dup g.76304165dup 610dupG - HSPB1_000024 - - - - Germline - - - - - Simona Capponi
-/. 1 - c.*11C>T r.(=) p.(=) - benign g.75933501C>T g.76304184C>T HSPB1(NM_001540.3):c.*11C>T - HSPB1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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