Full data view for gene HSPB1

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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. 1 c.-56C>T r.(?) p.(=) Parent #1 - benign g.75931974C>T g.76302657C>T 1-56C>T - HSPB1_000021 - PubMed: Kijima 2005 - - Germline no ? - 0 - DNA SEQ - - HMN - PubMed: Kijima 2005 - - - Japan - - 0 - - 1 Johan den Dunnen
-?/. - c.-19C>T r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. 1 c.9G>A r.(?) p.(Glu3=) Parent #1 - benign g.75932038G>A g.76302721G>A - - HSPB1_000004 - - - rs77586767 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.9G>A r.(?) p.(Glu3=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.9G>A r.(?) p.(Glu3=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.19C>T r.(?) p.(Pro7Ser) Unknown - likely pathogenic (dominant) g.75932048C>T g.76302731C>T - - HSPB1_000042 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - DNA SEQ - - HMN F8 PubMed: Echaniz-Laguna 2017 - - - Algeria - - 0 - - 1 Johan den Dunnen
-?/. - c.24C>T r.(?) p.(Phe8=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.45C>A r.(?) p.(Ser15Arg) Unknown - likely pathogenic (dominant) g.75932074C>A g.76302757C>A - - HSPB1_000039 - PubMed: Antoniadi 2015 - - Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel CMT-2 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-?/. 1 c.108C>G r.(?) p.(Pro36=) Parent #1 - likely benign g.75932137C>G g.76302820C>G - - HSPB1_000020 - PubMed: Kijima 2005 - - Germline no ? - 0 - DNA SEQ - - HMN - PubMed: Kijima 2005 - - - Japan - - 0 - - 1 Johan den Dunnen
+/. 1 c.116C>T r.(?) p.(Pro39Leu) Maternal (inferred) - pathogenic g.75932145C>T g.76302828C>T - - HSPB1_000018 - PubMed: Houlden 2008 - - Germline - - - 0 - DNA SEQ - - CMT-2 - PubMed: Houlden 2008 2-geenration family, affected boy and possibly affected, deceased mother M no United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+?/. - c.116C>T r.(?) p.(Pro39Leu) Unknown - likely pathogenic (dominant) g.75932145C>T g.76302828C>T - - HSPB1_000018 - PubMed: Antoniadi 2015 - - Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel HMN - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.116C>T r.(?) p.(Pro39Leu) Parent #1 - pathogenic (dominant) g.75932145C>T g.76302828C>T - - HSPB1_000018 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - DNA SEQ - - HMN F1 PubMed: Echaniz-Laguna 2017 family, 2 affected - - France - - 0 - - 2 Johan den Dunnen
+/. - c.116C>T r.(?) p.(Pro39Leu) Parent #1 - pathogenic (dominant) g.75932145C>T g.76302828C>T - - HSPB1_000018 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - DNA SEQ - - HMN F1 PubMed: Echaniz-Laguna 2017 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.116C>T r.(?) p.(Pro39Leu) Parent #1 - pathogenic (dominant) g.75932145C>T g.76302828C>T - - HSPB1_000018 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - DNA SEQ - - HMN F4 PubMed: Echaniz-Laguna 2017 family, 2 affected - - France - - 0 - - 2 Johan den Dunnen
+/. - c.116C>T r.(?) p.(Pro39Leu) Parent #1 - pathogenic (dominant) g.75932145C>T g.76302828C>T - - HSPB1_000018 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - DNA SEQ - - HMN F4 PubMed: Echaniz-Laguna 2017 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.116C>T r.(?) p.(Pro39Leu) Unknown - pathogenic (dominant) g.75932145C>T g.76302828C>T - - HSPB1_000018 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - DNA SEQ - - HMN F10 PubMed: Echaniz-Laguna 2017 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.116C>T r.(?) p.(Pro39Leu) Unknown - pathogenic (dominant) g.75932145C>T g.76302828C>T - - HSPB1_000018 - PubMed: Echaniz-Laguna 2017 - - De novo - - - 0 - DNA SEQ - - HMN F11 PubMed: Echaniz-Laguna 2017 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.116C>T r.(?) p.(Pro39Leu) Unknown - pathogenic (dominant) g.75932145C>T g.76302828C>T - - HSPB1_000018 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - DNA SEQ - - HMN F20 PubMed: Echaniz-Laguna 2017 - - - France - - 0 - - 1 Johan den Dunnen
+?/. - c.158G>A r.(?) p.(Gly53Asp) Unknown - likely pathogenic (dominant) g.75932187G>A g.76302870G>A - - HSPB1_000043 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - DNA SEQ - - HMN F3 PubMed: Echaniz-Laguna 2017 - - - Cote D'Ivoire (Ivory Coast) - - 0 - - 1 Johan den Dunnen
+/. - c.165_171dup r.(?) p.(Leu58AlafsTer105) Unknown - pathogenic (dominant) g.75932194_75932200dup g.76302877_76302883dup - - HSPB1_000044 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - DNA SEQ - - HMN F9 PubMed: Echaniz-Laguna 2017 - - - France - - 0 - - 1 Johan den Dunnen
-?/. - c.178C>T r.(?) p.(Pro60Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.178C>T r.(?) p.(Pro60Ser) Unknown - likely benign g.75932207C>T - HSPB1(NM_001540.3):c.178C>T (p.P60S) - HSPB1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.180dup r.(?) p.(Ala61ArgfsTer100) Unknown - likely pathogenic (dominant) g.75932209dup g.76302892dup - - HSPB1_000045 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - DNA SEQ - - HMN F13 PubMed: Echaniz-Laguna 2017 - - - France - - 0 - - 1 Johan den Dunnen
+?/. - c.250G>A r.(?) p.Gly84Arg Unknown 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 - DNA SEQ-NG - - - - - - M - Germany - - 0 - - 1 Andreas Laner
+/. - c.250G>A r.(?) p.(Gly84Arg) Parent #1 - pathogenic g.75932279G>A g.76302962G>A - - HSPB1_000030 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - 0 - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat6 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - 1 Johan den Dunnen
+/. 1 c.250G>C r.(?) p.(Gly84Arg) Unknown - pathogenic g.75932279G>C g.76302962G>C 349G>C - HSPB1_000005 not in 400 control chromosomes PubMed: James 2008 - - Germline - - - 0 - DNA SEQ - - HMN - PubMed: James 2008 - - no United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 1 c.250G>C r.(?) p.(Gly84Arg) Unknown - pathogenic g.75932279G>C g.76302962G>C G250C - HSPB1_000005 - PubMed: Houlden 2008 - - Germline yes - - 0 - DNA SEQ - - CMT-2 - PubMed: Houlden 2008 2-geenration family, 2 affected brothers and possibly affected, deceased father M no United Kingdom (Great Britain) - - 0 - - 2 Johan den Dunnen
+?/. - c.250G>C r.(?) p.(Gly84Arg) Unknown - likely pathogenic g.75932279G>C g.76302962G>C - - HSPB1_000005 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 1 Johan den Dunnen
+?/. 1 c.295C>A r.(?) p.(Leu99Met) Both (homozygous) - likely pathogenic g.75932324C>A g.76303007C>A C295A - HSPB1_000006 - PubMed: Houlden 2008, OMIM:var0008 - rs121909113 Germline - - - 0 - DNA SEQ - - CMT-2 - PubMed: Houlden 2008 2-generation family, 1 affected, unaffected heterozygous carrier parent/sister M yes Pakistan - - 0 - - 1 Johan den Dunnen
+?/. - c.302T>C r.(?) p.(Val101Ala) Parent #1 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 - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat7 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - 1 Johan den Dunnen
-?/. - c.364+10C>G r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. 1i c.365-60C>T r.(?) p.(=) Parent #1 - benign g.75933059C>T g.76303742C>T - - HSPB1_000001 - - - rs11769502 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. 1i c.365-13C>T r.(?) p.(=) Unknown - likely benign g.75933106C>T g.76303789C>T - - HSPB1_000019 - PubMed: Benedetti 2010 - - Germline - - - 0 - DNA SEQ - - CMT-2 - PubMed: Benedetti 2010 - F no Italy - >52y 0 - - 1 Johan den Dunnen
?/. 1i c.365-7C>G r.(=) p.(=) Parent #1 - VUS g.75933112C>G g.76303795C>G - - HSPB1_000002 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
?/. - c.365-7C>G r.(=) p.(=) Unknown - VUS g.75933112C>G g.76303795C>G HSPB1(NM_001540.3):c.365-7C>G - HSPB1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1i c.365-7C>T r.(?) p.(=) Parent #1 - benign g.75933112C>T g.76303795C>T - - HSPB1_000022 - PubMed: Kijima 2005 - - Germline no ? - 0 - DNA SEQ - - HMN - PubMed: Kijima 2005 - - - Japan - - 0 - - 1 Johan den Dunnen
+/. 2 c.379C>T r.(?) p.(Arg127Trp) Parent #1 - pathogenic g.75933133C>T g.76303816C>T - - HSPB1_000007 - PubMed: Evgrafov 2004, OMIM:var0002 - rs29001571 Germline - - - 0 - DNA SEQ - - HMN - PubMed: Evgrafov 2004 - ? no Belgium - - 0 - - 1 Johan den Dunnen
?/. 2 c.379C>T r.(?) p.(Arg127Trp) Unknown - VUS g.75933133C>T g.76303816C>T - - HSPB1_000007 - PubMed: Benedetti 2010 - - Germline - - - 0 - DNA SEQ - - CMT-2 - PubMed: Benedetti 2010 - M no Italy - >47y 0 - - 1 Johan den Dunnen
+/. - c.379C>T r.(?) p.(Arg127Trp) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.379C>T r.(?) p.(Arg127Trp) Unknown - pathogenic (dominant) g.75933133C>T g.76303816C>T - - HSPB1_000007 - PubMed: Antoniadi 2015 - rs29001571 Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel HMN - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.379C>T r.(?) p.(Arg127Trp) Unknown - pathogenic (dominant) g.75933133C>T g.76303816C>T - - HSPB1_000007 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - DNA SEQ - - HMN F2 PubMed: Echaniz-Laguna 2017 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.379C>T r.(?) p.(Arg127Trp) Unknown - pathogenic (dominant) g.75933133C>T g.76303816C>T - - HSPB1_000007 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - DNA SEQ - - HMN F5 PubMed: Echaniz-Laguna 2017 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.379C>T r.(?) p.(Arg127Trp) Unknown - pathogenic (dominant) g.75933133C>T g.76303816C>T - - HSPB1_000007 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - DNA SEQ - - HMN F21 PubMed: Echaniz-Laguna 2017 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.379C>T r.(?) p.(Arg127Trp) Parent #1 - pathogenic (dominant) g.75933133C>T g.76303816C>T - - HSPB1_000007 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - DNA SEQ - - HMN F23 PubMed: Echaniz-Laguna 2017 family, 2 affected - - France - - 0 - - 2 Johan den Dunnen
+/. - c.379C>T r.(?) p.(Arg127Trp) Parent #1 - pathogenic (dominant) g.75933133C>T g.76303816C>T - - HSPB1_000007 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - DNA SEQ - - HMN F23 PubMed: Echaniz-Laguna 2017 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.379C>T r.(?) p.(Arg127Trp) Unknown - pathogenic (dominant) g.75933133C>T g.76303816C>T - - HSPB1_000007 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - DNA SEQ - - HMN F25 PubMed: Echaniz-Laguna 2017 - - - France - - 0 - - 1 Johan den Dunnen
+?/. - c.383A>G r.(?) p.(Gln128Arg) Unknown - likely pathogenic (dominant) g.75933137A>G g.76303820A>G - - HSPB1_000046 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - DNA SEQ - - HMN F7 PubMed: Echaniz-Laguna 2017 - - - France - - 0 - - 1 Johan den Dunnen
?/. 2 c.383A>G r.(?) p.(Gln128Arg) Unknown - VUS g.75933137A>G g.76303820A>G - - HSPB1_000046 - PubMed: Ganapathy 2019 - rs558882005 Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-1196 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
?/. - c.388G>A r.(?) p.(Glu130Lys) Unknown - VUS g.75933142G>A g.76303825G>A - - HSPB1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.404C>A r.(?) p.(Ser135Tyr) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. 2 c.404C>G r.(?) p.(Ser135Cys) Parent #1 - pathogenic g.75933158C>G g.76303841C>G - - HSPB1_000008 - PubMed: Benedetti 2010 - - Germline yes - - 0 - DNA SEQ - - CMT-2 - PubMed: Benedetti 2010 2-generation family, affected mother daugther F no Italy - - 0 - - 2 Johan den Dunnen
+/. 2 c.404C>T r.(?) p.(Ser135Phe) Parent #1 - pathogenic g.75933158C>T g.76303841C>T - - HSPB1_000009 - PubMed: Evgrafov 2004, OMIM:var0001 - rs28939680 Germline yes - - 0 - DNA SEQ - - CMT-2F - PubMed: Evgrafov 2004 6-generation family, 18 affecteds (8F, 10M) F;M no Russian Federation - - 0 - - 18 Johan den Dunnen
+/. 2 c.404C>T r.(?) p.(Ser135Phe) Parent #1 - pathogenic g.75933158C>T g.76303841C>T - - HSPB1_000009 variant on shared haplotype (Russia) PubMed: Evgrafov 2004, OMIM:var0001 - rs28939680 Germline yes - - 0 - DNA SEQ - - CMT-2 - PubMed: Evgrafov 2004 - - no - Russian Federation - 0 - - 1 Johan den Dunnen
+/. 2 c.404C>T r.(?) p.(Ser135Phe) Parent #1 - pathogenic g.75933158C>T g.76303841C>T - - HSPB1_000009 variant on shared haplotype (Russia) PubMed: Evgrafov 2004, OMIM:var0001 - rs28939680 Germline yes - - 0 - DNA SEQ - - CMT-2 - PubMed: Evgrafov 2004 - - no - Russian Federation - 0 - - 1 Johan den Dunnen
+/. 2 c.404C>T r.(?) p.(Ser135Phe) Parent #1 - pathogenic g.75933158C>T g.76303841C>T - - HSPB1_000009 variant on shared haplotype (Russia) PubMed: Evgrafov 2004, OMIM:var0001 - rs28939680 Germline yes - - 0 - DNA SEQ - - CMT-2 - PubMed: Evgrafov 2004 - - no - Russian Federation - 0 - - 1 Johan den Dunnen
+/. 2 c.404C>T r.(?) p.(Ser135Phe) Parent #1 - pathogenic g.75933158C>T g.76303841C>T - - HSPB1_000009 variant on shared haplotype (Russia) PubMed: Evgrafov 2004, OMIM:var0001 - rs28939680 Germline yes - - 0 - DNA SEQ - - CMT-2 - PubMed: Evgrafov 2004 - - no - Russian Federation - 0 - - 1 Johan den Dunnen
+/. 2 c.404C>T r.(?) p.(Ser135Phe) Parent #1 - pathogenic g.75933158C>T g.76303841C>T - - HSPB1_000009 different haplotype PubMed: Evgrafov 2004, OMIM:var0001 - rs28939680 Germline yes - - 0 - DNA SEQ - - HMN - PubMed: Evgrafov 2004 - - no - United Kingdom (Great Britain) - 0 - - 1 Johan den Dunnen
+/. 2 c.404C>T r.(?) p.(Ser135Phe) Parent #1 - pathogenic g.75933158C>T g.76303841C>T C525G - HSPB1_000009 - {PMID:Houlden 2008:18832141, OMIM:var0001 - rs28939680 Germline yes - - 0 - DNA SEQ - - CMT-2 - PubMed: Houlden 2008 9-generation family, 49 affecteds M;F no United Kingdom (Great Britain) - - 0 - - 49 Johan den Dunnen
+/. - c.404C>T r.(?) p.(Ser135Phe) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. - c.404C>T r.(?) p.(Ser135Phe) Unknown - pathogenic (dominant) g.75933158C>T g.76303841C>T - - HSPB1_000009 - PubMed: Antoniadi 2015 - rs28939680 Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel CMT-2 Pat-HSPB1-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.404C>T r.(?) p.(Ser135Phe) Unknown - pathogenic (dominant) g.75933158C>T g.76303841C>T - - HSPB1_000009 - PubMed: Antoniadi 2015 - rs28939680 Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel HMN Pat-HSPB1-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.404C>T r.(?) p.(Ser135Phe) Unknown - pathogenic (dominant) g.75933158C>T g.76303841C>T - - HSPB1_000009 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - DNA SEQ - - HMN F17 PubMed: Echaniz-Laguna 2017 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.404C>T r.(?) p.(Ser135Phe) Parent #1 - pathogenic (dominant) g.75933158C>T g.76303841C>T - - HSPB1_000009 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - DNA SEQ - - HMN F18 PubMed: Echaniz-Laguna 2017 family, 2 affected - - Italy - - 0 - - 2 Johan den Dunnen
+/. - c.404C>T r.(?) p.(Ser135Phe) Parent #1 - pathogenic (dominant) g.75933158C>T g.76303841C>T - - HSPB1_000009 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - DNA SEQ - - HMN F18 PubMed: Echaniz-Laguna 2017 - - - Italy - - 0 - - 1 Johan den Dunnen
+/. - c.404C>T r.(?) p.(Ser135Phe) Unknown - pathogenic (dominant) g.75933158C>T g.76303841C>T - - HSPB1_000009 - PubMed: Echaniz-Laguna 2017 - - De novo - - - 0 - DNA SEQ - - HMN F22 PubMed: Echaniz-Laguna 2017 - - - Algeria - - 0 - - 1 Johan den Dunnen
+/. - c.404C>T r.(?) p.(Ser135Phe) Unknown - pathogenic (dominant) g.75933158C>T g.76303841C>T - - HSPB1_000009 - PubMed: Echaniz-Laguna 2017 - - De novo - - - 0 - DNA SEQ - - HMN F24 PubMed: Echaniz-Laguna 2017 - - - Algeria - - 0 - - 1 Johan den Dunnen
+/. - c.404C>T r.(?) p.(Ser135Phe) Unknown - pathogenic (dominant) g.75933158C>T g.76303841C>T - - HSPB1_000009 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - DNA SEQ - - HMN F26 PubMed: Echaniz-Laguna 2017 - - - Armenia - - 0 - - 1 Johan den Dunnen
+/. 2 c.406C>T r.(?) p.(Arg136Trp) Parent #1 - pathogenic g.75933160C>T g.76303843C>T - - HSPB1_000010 - PubMed: Evgrafov 2004, OMIM:var0005 - rs28939681 Germline yes - - 0 - DNA SEQ - - CMT-2F - PubMed: Evgrafov 2004 - - no Belgium - - 0 - - 1 Johan den Dunnen
+/. - c.406C>T r.(?) p.(Arg136Trp) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. - c.415A>G r.(?) p.(Thr139Ala) Unknown - VUS g.75933169A>G - HSPB1(NM_001540.3):c.415A>G (p.T139A) - HSPB1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.418C>G r.(?) p.(Arg140Gly) Parent #1 - pathogenic g.75933172C>G g.76303855C>G - - HSPB1_000011 - PubMed: Houlden 2008, OMIM:var0007 - rs121909112 Germline yes - - 0 - DNA SEQ - - CMT-2 - PubMed: Houlden 2008 4-generation family, affected father/son M - India - - 0 - - 2 Johan den Dunnen
+/. 2 c.418C>G r.(?) p.(Arg140Gly) Parent #1 - pathogenic g.75933172C>G g.76303855C>G C404T - HSPB1_000011 - PubMed: Houlden 2008, OMIM:var0007 - rs121909112 Germline yes - - 0 - DNA SEQ - - CMT-2 - PubMed: Houlden 2008 2-generation family, 1 affected, untested parents M no India - - 0 - - 1 Johan den Dunnen
+/. 2 c.418C>G r.(?) p.(Arg140Gly) Parent #1 - pathogenic g.75933172C>G g.76303855C>G C404T - HSPB1_000011 - PubMed: Houlden 2008, OMIM:var0007 - rs121909112 Germline yes - - 0 - DNA SEQ - - CMT-2 - PubMed: Houlden 2008 2-generation family, 1 affected, untested parents M no India - - 0 - - 1 Johan den Dunnen
?/. - c.418C>G r.(?) p.(Arg140Gly) Unknown - VUS g.75933172C>G g.76303855C>G - - HSPB1_000011 - - - - Germline - - - 0 - DNA SEQ Blood - CMT-2 ? - - - - Spain - - 0 - - 1 Carmen Espinós
?/. - c.420_421del r.(?) p.(Lys141IlefsTer19) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.421A>C r.(?) p.(Lys141Gln) Parent #1 - pathogenic g.75933175A>C g.76303858A>C - - HSPB1_000012 - PubMed: Ikeda 2009 - - Germline yes - - 0 - DNA SEQ - - HMN-2 - PubMed: Ikeda 2009 3-generation family, 3 affected males M no Japan - - 0 - - 3 Johan den Dunnen
+/. - c.421A>C r.(?) p.(Lys141Gln) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.422_423insTT r.(?) p.(Lys141AsnfsTer24) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. 2i c.428+33_428+47del r.(spl?) p.(?) Parent #1 - VUS g.75933215_75933229del g.76303898_76303912del - - HSPB1_000003 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. - c.429-17C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.438C>G r.(?) p.(Pro146=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.438dup r.(?) p.(Gly147Argfs*14) Unknown 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 - DNA SEQ-NG-I - - CMT-2F 176829 - - M ? Germany - - 0 - - 1 Andreas Laner
?/. 3 c.440G>A r.(?) p.(Gly147Asp) Unknown - VUS g.75933312G>A g.76303995G>A - - HSPB1_000049 - PubMed: Ganapathy 2019 - - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-5303 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
+/. 3 c.452C>T r.(?) p.(Thr151Ile) Parent #1 - pathogenic g.75933324C>T g.76304007C>T - - HSPB1_000013 - PubMed: Evgrafov 2004, OMIM:var0003 - rs28937568 Germline yes - - 0 - DNA SEQ - - HMN - PubMed: Evgrafov 2004 4-generation family, 4 afffecteds (F, 3M) F;M no Croatia (Hrvatska) - - 0 - - 4 Johan den Dunnen
+/. - c.452C>T r.(?) p.(Thr151Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+?/. - c.452C>T r.(?) p.(Thr151Ile) Unknown - likely pathogenic g.75933324C>T g.76304007C>T - - HSPB1_000013 - - - rs28937568 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - M - - - - 0 - - 1 Andreas Laner
+/. - c.452C>T r.(?) p.(Thr151Ile) Unknown - pathogenic (dominant) g.75933324C>T g.76304007C>T - - HSPB1_000013 - PubMed: Antoniadi 2015 - rs28937568 Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel CMT-2 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.452C>T r.(?) p.(Thr151Ile) Unknown - pathogenic (dominant) g.75933324C>T g.76304007C>T - - HSPB1_000013 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - DNA SEQ - - HMN F6 PubMed: Echaniz-Laguna 2017 - - - France - - 0 - - 1 Johan den Dunnen
+/. 3 c.476_477del r.(?) p.(Pro159Argfs*42) Parent #1 - pathogenic g.75933348_75933349del g.76304031_76304032del 476_477delCT - HSPB1_000014 - PubMed: Mandich 2010 - - Germline yes - - 0 - DNA SEQ - - neuropathy, peripheral - PubMed: Mandich 2010 2-generation family, affected father/son M no Italy - - 0 - - 2 Johan den Dunnen
+/. - c.490A>G r.(?) p.(Thr164Ala) Parent #1 - pathogenic (dominant) g.75933362A>G g.76304045A>G - - HSPB1_000040 - PubMed: Lin 2011 - - Germline - - - 0 - DNA SEQ - gene panel CMT Fam2 PubMed: Lin 2011 3-generation family, 3 affected (F, 2M) M - Taiwan Han Chinese - 0 - - 3 Johan den Dunnen
+/. - c.523C>T r.(?) p.(Gln175Ter) Unknown - pathogenic (dominant) g.75933395C>T g.76304078C>T - - HSPB1_000047 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - DNA SEQ - - HMN F12 PubMed: Echaniz-Laguna 2017 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.523C>T r.(?) p.(Gln175Ter) Unknown - pathogenic (dominant) g.75933395C>T g.76304078C>T - - HSPB1_000047 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - DNA SEQ - - HMN F14 PubMed: Echaniz-Laguna 2017 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.523C>T r.(?) p.(Gln175Ter) Unknown - pathogenic (dominant) g.75933395C>T g.76304078C>T - - HSPB1_000047 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - DNA SEQ - - HMN F15 PubMed: Echaniz-Laguna 2017 - - - England - - 0 - - 1 Johan den Dunnen
+/. - c.523C>T r.(?) p.(Gln175Ter) Parent #1 - pathogenic (dominant) g.75933395C>T g.76304078C>T - - HSPB1_000047 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - DNA SEQ - - HMN F16 PubMed: Echaniz-Laguna 2017 family, 2 affected - - France - - 0 - - 2 Johan den Dunnen
+/. - c.523C>T r.(?) p.(Gln175Ter) Parent #1 - pathogenic (dominant) g.75933395C>T g.76304078C>T - - HSPB1_000047 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - DNA SEQ - - HMN F16 PubMed: Echaniz-Laguna 2017 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.523C>T r.(?) p.(Gln175Ter) Parent #1 - pathogenic (dominant) g.75933395C>T g.76304078C>T - - HSPB1_000047 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - DNA SEQ - - HMN F27 PubMed: Echaniz-Laguna 2017 family, 6 affected - - France - - 0 - - 6 Johan den Dunnen
+/. - c.523C>T r.(?) p.(Gln175Ter) Parent #1 - pathogenic (dominant) g.75933395C>T g.76304078C>T - - HSPB1_000047 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - DNA SEQ - - HMN F27 PubMed: Echaniz-Laguna 2017 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.523C>T r.(?) p.(Gln175Ter) Parent #1 - pathogenic (dominant) g.75933395C>T g.76304078C>T - - HSPB1_000047 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - DNA SEQ - - HMN F27 PubMed: Echaniz-Laguna 2017 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.523C>T r.(?) p.(Gln175Ter) Parent #1 - pathogenic (dominant) g.75933395C>T g.76304078C>T - - HSPB1_000047 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - DNA SEQ - - HMN F27 PubMed: Echaniz-Laguna 2017 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.523C>T r.(?) p.(Gln175Ter) Parent #1 - pathogenic (dominant) g.75933395C>T g.76304078C>T - - HSPB1_000047 - PubMed: Echaniz-Laguna 2017 - - Germline - - - 0 - DNA SEQ - - HMN F27 PubMed: Echaniz-Laguna 2017 - - - France - - 0 - - 1 Johan den Dunnen
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