All 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.

112 entries on 2 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.-56C>T r.(?) p.(=) - benign g.75931974C>T g.76302657C>T 1-56C>T - HSPB1_000021 - PubMed: Kijima 2005 - - Germline no ? - 0 - Johan den Dunnen
-?/. - 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 - - - 0 - VKGL-NL_AMC
-/. 1 c.9G>A r.(?) p.(Glu3=) - benign g.75932038G>A g.76302721G>A - - HSPB1_000004 - - - rs77586767 Germline - - - 0 - Andreas Laner
-/. - c.9G>A r.(?) p.(Glu3=) - benign g.75932038G>A g.76302721G>A HSPB1(NM_001540.3):c.9G>A (p.E3=) - HSPB1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.9G>A r.(?) p.(Glu3=) - likely benign g.75932038G>A g.76302721G>A HSPB1(NM_001540.3):c.9G>A (p.E3=) - HSPB1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.19C>T r.(?) p.(Pro7Ser) - likely pathogenic (dominant) g.75932048C>T g.76302731C>T - - HSPB1_000042 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - Johan den Dunnen
-?/. - 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
+?/. - c.45C>A r.(?) p.(Ser15Arg) - likely pathogenic (dominant) g.75932074C>A g.76302757C>A - - HSPB1_000039 - PubMed: Antoniadi 2015 - - Germline - - - 0 - Johan den Dunnen
-?/. 1 c.108C>G r.(?) p.(Pro36=) - likely benign g.75932137C>G g.76302820C>G - - HSPB1_000020 - PubMed: Kijima 2005 - - Germline no ? - 0 - Johan den Dunnen
+/. 1 c.116C>T r.(?) p.(Pro39Leu) - pathogenic g.75932145C>T g.76302828C>T - - HSPB1_000018 - PubMed: Houlden 2008 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.116C>T r.(?) p.(Pro39Leu) - likely pathogenic (dominant) g.75932145C>T g.76302828C>T - - HSPB1_000018 - PubMed: Antoniadi 2015 - - Germline - - - 0 - Johan den Dunnen
+/. - c.116C>T r.(?) p.(Pro39Leu) - pathogenic (dominant) g.75932145C>T g.76302828C>T - - HSPB1_000018 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.116C>T r.(?) p.(Pro39Leu) - pathogenic (dominant) g.75932145C>T g.76302828C>T - - HSPB1_000018 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.116C>T r.(?) p.(Pro39Leu) - pathogenic (dominant) g.75932145C>T g.76302828C>T - - HSPB1_000018 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.116C>T r.(?) p.(Pro39Leu) - pathogenic (dominant) g.75932145C>T g.76302828C>T - - HSPB1_000018 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.116C>T r.(?) p.(Pro39Leu) - pathogenic (dominant) g.75932145C>T g.76302828C>T - - HSPB1_000018 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.116C>T r.(?) p.(Pro39Leu) - pathogenic (dominant) g.75932145C>T g.76302828C>T - - HSPB1_000018 - PubMed: Echaniz-Laguna 2017 - - De novo - - - 0 - Johan den Dunnen
+/. - c.116C>T r.(?) p.(Pro39Leu) - pathogenic (dominant) g.75932145C>T g.76302828C>T - - HSPB1_000018 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.158G>A r.(?) p.(Gly53Asp) - likely pathogenic (dominant) g.75932187G>A g.76302870G>A - - HSPB1_000043 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.165_171dup r.(?) p.(Leu58AlafsTer105) - pathogenic (dominant) g.75932194_75932200dup g.76302877_76302883dup - - HSPB1_000044 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - Johan den Dunnen
-?/. - 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 - - - 0 - VKGL-NL_AMC
-?/. - c.178C>T r.(?) p.(Pro60Ser) - likely benign g.75932207C>T - HSPB1(NM_001540.3):c.178C>T (p.P60S) - HSPB1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.180dup r.(?) p.(Ala61ArgfsTer100) - likely pathogenic (dominant) g.75932209dup g.76302892dup - - HSPB1_000045 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.250G>A r.(?) p.Gly84Arg ACMG likely pathogenic g.75932279G>A g.76302962G>A - - HSPB1_000030 ACMG grading: PP5,PM2,PS3,PP3,PP1; reported in PMID: 18344398, 18832141, 21892769, 25429913, 18344398, 23948568 - - - Germline - - - 0 - Andreas Laner
+/. - c.250G>A r.(?) p.(Gly84Arg) - pathogenic g.75932279G>A g.76302962G>A - - HSPB1_000030 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - 0 - Johan den Dunnen
+/. 1 c.250G>C r.(?) p.(Gly84Arg) - pathogenic g.75932279G>C g.76302962G>C 349G>C - HSPB1_000005 not in 400 control chromosomes PubMed: James 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.250G>C r.(?) p.(Gly84Arg) - pathogenic g.75932279G>C g.76302962G>C G250C - HSPB1_000005 - PubMed: Houlden 2008 - - Germline yes - - 0 - Johan den Dunnen
+?/. - c.250G>C r.(?) p.(Gly84Arg) - likely pathogenic g.75932279G>C g.76302962G>C - - HSPB1_000005 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - Johan den Dunnen
+?/. 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 - - - 0 - Johan den Dunnen
+?/. - 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 - 0 - Johan den Dunnen
-?/. - 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 - - - 0 - VKGL-NL_Utrecht
-/. 1i c.365-60C>T r.(?) p.(=) - benign g.75933059C>T g.76303742C>T - - HSPB1_000001 - - - rs11769502 Germline - - - 0 - Andreas Laner
-?/. 1i c.365-13C>T r.(?) p.(=) - likely benign g.75933106C>T g.76303789C>T - - HSPB1_000019 - PubMed: Benedetti 2010 - - Germline - - - 0 - Johan den Dunnen
?/. 1i c.365-7C>G r.(=) p.(=) - VUS g.75933112C>G g.76303795C>G - - HSPB1_000002 - - - - Germline - - - 0 - Andreas Laner
?/. - 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 - - - - - VKGL-NL_Rotterdam
-/. 1i c.365-7C>T r.(?) p.(=) - benign g.75933112C>T g.76303795C>T - - HSPB1_000022 - PubMed: Kijima 2005 - - Germline no ? - 0 - Johan den Dunnen
+/. 2 c.379C>T r.(?) p.(Arg127Trp) - pathogenic g.75933133C>T g.76303816C>T - - HSPB1_000007 - PubMed: Evgrafov 2004, OMIM:var0002 - rs29001571 Germline - - - 0 - Johan den Dunnen
?/. 2 c.379C>T r.(?) p.(Arg127Trp) - VUS g.75933133C>T g.76303816C>T - - HSPB1_000007 - PubMed: Benedetti 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.379C>T r.(?) p.(Arg127Trp) - pathogenic g.75933133C>T g.76303816C>T HSPB1(NM_001540.3):c.379C>T (p.R127W) - HSPB1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.379C>T r.(?) p.(Arg127Trp) - pathogenic (dominant) g.75933133C>T g.76303816C>T - - HSPB1_000007 - PubMed: Antoniadi 2015 - rs29001571 Germline - - - 0 - Johan den Dunnen
+/. - c.379C>T r.(?) p.(Arg127Trp) - pathogenic (dominant) g.75933133C>T g.76303816C>T - - HSPB1_000007 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.379C>T r.(?) p.(Arg127Trp) - pathogenic (dominant) g.75933133C>T g.76303816C>T - - HSPB1_000007 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.379C>T r.(?) p.(Arg127Trp) - pathogenic (dominant) g.75933133C>T g.76303816C>T - - HSPB1_000007 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.379C>T r.(?) p.(Arg127Trp) - pathogenic (dominant) g.75933133C>T g.76303816C>T - - HSPB1_000007 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.379C>T r.(?) p.(Arg127Trp) - pathogenic (dominant) g.75933133C>T g.76303816C>T - - HSPB1_000007 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.379C>T r.(?) p.(Arg127Trp) - pathogenic (dominant) g.75933133C>T g.76303816C>T - - HSPB1_000007 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.383A>G r.(?) p.(Gln128Arg) - likely pathogenic (dominant) g.75933137A>G g.76303820A>G - - HSPB1_000046 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - Johan den Dunnen
?/. 2 c.383A>G r.(?) p.(Gln128Arg) - VUS g.75933137A>G g.76303820A>G - - HSPB1_000046 - PubMed: Ganapathy 2019 - rs558882005 Germline - - - 0 - Johan den Dunnen
?/. - 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
+/. - 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 - - - 0 - VKGL-NL_AMC
+/. 2 c.404C>G r.(?) p.(Ser135Cys) - pathogenic g.75933158C>G g.76303841C>G - - HSPB1_000008 - PubMed: Benedetti 2010 - - Germline yes - - 0 - Johan den Dunnen
+/. 2 c.404C>T r.(?) p.(Ser135Phe) - pathogenic g.75933158C>T g.76303841C>T - - HSPB1_000009 - PubMed: Evgrafov 2004, OMIM:var0001 - rs28939680 Germline yes - - 0 - Johan den Dunnen
+/. 2 c.404C>T r.(?) p.(Ser135Phe) - pathogenic g.75933158C>T g.76303841C>T - - HSPB1_000009 variant on shared haplotype (Russia) PubMed: Evgrafov 2004, OMIM:var0001 - rs28939680 Germline yes - - 0 - Johan den Dunnen
+/. 2 c.404C>T r.(?) p.(Ser135Phe) - pathogenic g.75933158C>T g.76303841C>T - - HSPB1_000009 variant on shared haplotype (Russia) PubMed: Evgrafov 2004, OMIM:var0001 - rs28939680 Germline yes - - 0 - Johan den Dunnen
+/. 2 c.404C>T r.(?) p.(Ser135Phe) - pathogenic g.75933158C>T g.76303841C>T - - HSPB1_000009 variant on shared haplotype (Russia) PubMed: Evgrafov 2004, OMIM:var0001 - rs28939680 Germline yes - - 0 - Johan den Dunnen
+/. 2 c.404C>T r.(?) p.(Ser135Phe) - pathogenic g.75933158C>T g.76303841C>T - - HSPB1_000009 variant on shared haplotype (Russia) PubMed: Evgrafov 2004, OMIM:var0001 - rs28939680 Germline yes - - 0 - Johan den Dunnen
+/. 2 c.404C>T r.(?) p.(Ser135Phe) - pathogenic g.75933158C>T g.76303841C>T - - HSPB1_000009 different haplotype PubMed: Evgrafov 2004, OMIM:var0001 - rs28939680 Germline yes - - 0 - Johan den Dunnen
+/. 2 c.404C>T r.(?) p.(Ser135Phe) - pathogenic g.75933158C>T g.76303841C>T C525G - HSPB1_000009 - {PMID:Houlden 2008:18832141, OMIM:var0001 - rs28939680 Germline yes - - 0 - Johan den Dunnen
+/. - c.404C>T r.(?) p.(Ser135Phe) - pathogenic g.75933158C>T g.76303841C>T HSPB1(NM_001540.3):c.404C>T (p.S135F) - HSPB1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.404C>T r.(?) p.(Ser135Phe) - pathogenic (dominant) g.75933158C>T g.76303841C>T - - HSPB1_000009 - PubMed: Antoniadi 2015 - rs28939680 Germline - - - 0 - Johan den Dunnen
+/. - c.404C>T r.(?) p.(Ser135Phe) - pathogenic (dominant) g.75933158C>T g.76303841C>T - - HSPB1_000009 - PubMed: Antoniadi 2015 - rs28939680 Germline - - - 0 - Johan den Dunnen
+/. - c.404C>T r.(?) p.(Ser135Phe) - pathogenic (dominant) g.75933158C>T g.76303841C>T - - HSPB1_000009 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.404C>T r.(?) p.(Ser135Phe) - pathogenic (dominant) g.75933158C>T g.76303841C>T - - HSPB1_000009 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.404C>T r.(?) p.(Ser135Phe) - pathogenic (dominant) g.75933158C>T g.76303841C>T - - HSPB1_000009 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.404C>T r.(?) p.(Ser135Phe) - pathogenic (dominant) g.75933158C>T g.76303841C>T - - HSPB1_000009 - PubMed: Echaniz-Laguna 2017 - - De novo - - - 0 - Johan den Dunnen
+/. - c.404C>T r.(?) p.(Ser135Phe) - pathogenic (dominant) g.75933158C>T g.76303841C>T - - HSPB1_000009 - PubMed: Echaniz-Laguna 2017 - - De novo - - - 0 - Johan den Dunnen
+/. - c.404C>T r.(?) p.(Ser135Phe) - pathogenic (dominant) g.75933158C>T g.76303841C>T - - HSPB1_000009 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.406C>T r.(?) p.(Arg136Trp) - pathogenic g.75933160C>T g.76303843C>T - - HSPB1_000010 - PubMed: Evgrafov 2004, OMIM:var0005 - rs28939681 Germline yes - - 0 - Johan den Dunnen
+/. - 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 - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - 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
+/. 2 c.418C>G r.(?) p.(Arg140Gly) - pathogenic g.75933172C>G g.76303855C>G - - HSPB1_000011 - PubMed: Houlden 2008, OMIM:var0007 - rs121909112 Germline yes - - 0 - Johan den Dunnen
+/. 2 c.418C>G r.(?) p.(Arg140Gly) - pathogenic g.75933172C>G g.76303855C>G C404T - HSPB1_000011 - PubMed: Houlden 2008, OMIM:var0007 - rs121909112 Germline yes - - 0 - Johan den Dunnen
+/. 2 c.418C>G r.(?) p.(Arg140Gly) - pathogenic g.75933172C>G g.76303855C>G C404T - HSPB1_000011 - PubMed: Houlden 2008, OMIM:var0007 - rs121909112 Germline yes - - 0 - Johan den Dunnen
?/. - c.418C>G r.(?) p.(Arg140Gly) - VUS g.75933172C>G g.76303855C>G - - HSPB1_000011 - - - - Germline - - - 0 - Carmen Espinós
?/. - 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 c.421A>C r.(?) p.(Lys141Gln) - pathogenic g.75933175A>C g.76303858A>C - - HSPB1_000012 - PubMed: Ikeda 2009 - - Germline yes - - 0 - Johan den Dunnen
+/. - 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 - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - 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
?/. 2i c.428+33_428+47del r.(spl?) p.(?) - VUS g.75933215_75933229del g.76303898_76303912del - - HSPB1_000003 - - - - Germline - - - 0 - Andreas Laner
-?/. - 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
-?/. - 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
+?/. - 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 ? - - 0 - Andreas Laner
?/. 3 c.440G>A r.(?) p.(Gly147Asp) - VUS g.75933312G>A g.76303995G>A - - HSPB1_000049 - PubMed: Ganapathy 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.452C>T r.(?) p.(Thr151Ile) - pathogenic g.75933324C>T g.76304007C>T - - HSPB1_000013 - PubMed: Evgrafov 2004, OMIM:var0003 - rs28937568 Germline yes - - 0 - Johan den Dunnen
+/. - c.452C>T r.(?) p.(Thr151Ile) - pathogenic g.75933324C>T g.76304007C>T HSPB1(NM_001540.3):c.452C>T (p.T151I) - HSPB1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+?/. - c.452C>T r.(?) p.(Thr151Ile) - likely pathogenic g.75933324C>T g.76304007C>T - - HSPB1_000013 - - - rs28937568 Germline - - - 0 - Andreas Laner
+/. - c.452C>T r.(?) p.(Thr151Ile) - pathogenic (dominant) g.75933324C>T g.76304007C>T - - HSPB1_000013 - PubMed: Antoniadi 2015 - rs28937568 Germline - - - 0 - Johan den Dunnen
+/. - c.452C>T r.(?) p.(Thr151Ile) - pathogenic (dominant) g.75933324C>T g.76304007C>T - - HSPB1_000013 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.476_477del r.(?) p.(Pro159Argfs*42) - pathogenic g.75933348_75933349del g.76304031_76304032del 476_477delCT - HSPB1_000014 - PubMed: Mandich 2010 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.490A>G r.(?) p.(Thr164Ala) - pathogenic (dominant) g.75933362A>G g.76304045A>G - - HSPB1_000040 - PubMed: Lin 2011 - - Germline - - - 0 - Johan den Dunnen
+/. - c.523C>T r.(?) p.(Gln175Ter) - pathogenic (dominant) g.75933395C>T g.76304078C>T - - HSPB1_000047 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.523C>T r.(?) p.(Gln175Ter) - pathogenic (dominant) g.75933395C>T g.76304078C>T - - HSPB1_000047 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.523C>T r.(?) p.(Gln175Ter) - pathogenic (dominant) g.75933395C>T g.76304078C>T - - HSPB1_000047 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.523C>T r.(?) p.(Gln175Ter) - pathogenic (dominant) g.75933395C>T g.76304078C>T - - HSPB1_000047 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.523C>T r.(?) p.(Gln175Ter) - pathogenic (dominant) g.75933395C>T g.76304078C>T - - HSPB1_000047 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.523C>T r.(?) p.(Gln175Ter) - pathogenic (dominant) g.75933395C>T g.76304078C>T - - HSPB1_000047 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.523C>T r.(?) p.(Gln175Ter) - pathogenic (dominant) g.75933395C>T g.76304078C>T - - HSPB1_000047 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.523C>T r.(?) p.(Gln175Ter) - pathogenic (dominant) g.75933395C>T g.76304078C>T - - HSPB1_000047 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.523C>T r.(?) p.(Gln175Ter) - pathogenic (dominant) g.75933395C>T g.76304078C>T - - HSPB1_000047 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.523C>T r.(?) p.(Gln175Ter) - pathogenic (dominant) g.75933395C>T g.76304078C>T - - HSPB1_000047 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - Johan den Dunnen
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