### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HSPB8) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "HSPB8" "heat shock 22kDa protein 8" "12" "q24.23" "unknown" "LRG_249" "UD_132118327660" "" "http://www.LOVD.nl/HSPB8" "" "1" "30171" "26353" "608014" "1" "1" "1" "1" "This database is one of the gene variant databases from the:\r\nVariants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB." "" "g" "http://databases.lovd.nl/shared/refseq/HSPB8_codingDNA.html" "1" "" "This database is one of the gene variant databases from the \"Leiden Muscular Dystrophy pages\" (LMDp)" "-1" "" "-1" "00001" "2012-05-23 00:00:00" "00006" "2016-01-11 00:15:38" "00006" "2025-03-03 16:56:28" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00009701" "HSPB8" "heat shock 22kDa protein 8" "001" "NM_014365.2" "" "NP_055180.1" "" "" "" "-523" "1479" "591" "119616595" "119632551" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01447" "HMN2A" "neuropathy, motor, distal, hereditary, type 2A (HMN-2A)" "AD" "158590" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02780" "CMT2L" "Charcot-Marie-Tooth disease, type 2L (CMT-2L)" "AD" "608673" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05111" "HMN" "neuropathy, motor, distal, hereditary (HMN)" "" "" "" "" "" "00006" "2016-01-11 01:33:03" "00006" "2016-03-20 12:15:43" "05112" "HMN2" "neuropathy, motor, distal, hereditary, type II (HMN-2)" "" "" "" "" "" "00006" "2016-01-11 01:38:35" "00006" "2021-12-11 13:56:28" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05299" "MFM" "myopathy, myofibrillar (MFM)" "" "" "" "" "" "00006" "2017-06-30 15:34:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "HSPB8" "01447" "HSPB8" "02780" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00056466" "" "" "" "8" "" "00006" "{PMID:Irobi 2004:15122253}" "4-generation family, 8 affecteds (3F, 5M)" "F;M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00056467" "" "" "" "34" "" "00006" "{PMID:Irobi 2004:15122253}" "6-generation family, 34 affecteds (16F, 18M)" "F;M" "no" "Czech Republic" "" "0" "" "" "" "" "00056468" "" "" "" "26" "" "00006" "{PMID:Tang 2004:15021985}, {PMID:Tang 2005:15565283}" "6-generation family, 26 affecteds (15F, 11M)" "F;M" "no" "China" "" "0" "" "" "" "" "00056469" "" "" "" "2" "" "00006" "{PMID:Zhang 2005:16086267}" "" "?" "?" "China" "" "0" "" "" "" "" "00057160" "" "" "" "4" "" "00006" "{PMID:Irobi 2004:15122253}" "4-generation family, 4 affecteds (2F, 2M)" "F;M" "no" "Bulgaria" "" "0" "" "" "" "" "00057161" "" "" "" "32" "" "00006" "{PMID:Irobi 2004:15122253}" "6-generation family, 32 affecteds (13F, 19M)" "F;M" "no" "Belgium" "" "0" "" "" "" "" "00288211" "" "" "" "1" "" "00006" "{PMID:Lee 2019:31607746}" "" "" "" "United States" "" "0" "" "" "" "Pat21" "00314335" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00359311" "" "" "" "3" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "F29" "00359312" "" "" "00359311" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "France" "" "0" "" "" "" "F29" "00359313" "" "" "00359311" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "France" "" "0" "" "" "" "F29" "00359314" "" "" "" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Gabon" "" "0" "" "" "" "F30" "00359315" "" "" "" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "France" "" "0" "" "" "" "F31" "00359316" "" "" "" "2" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "F32" "00359317" "" "" "00359316" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "France" "" "0" "" "" "" "F32" "00462284" "" "" "" "1" "" "04799" "" "" "M" "no" "" "" "" "" "" "" "" "00462288" "" "" "" "1" "" "04799" "" "" "" "" "China" "" "" "" "" "" "" "00462289" "" "" "" "1" "" "04799" "" "" "" "" "China" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00056466" "05112" "00056467" "05112" "00056468" "02780" "00056469" "05113" "00057160" "05112" "00057161" "05112" "00288211" "00198" "00314335" "05126" "00359311" "05111" "00359312" "05111" "00359313" "05111" "00359314" "05111" "00359315" "05111" "00359316" "05111" "00359317" "05111" "00462284" "05299" "00462288" "05299" "00462289" "05299" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01447, 02780, 05111, 05112, 05113, 05126, 05299 ## Count = 16 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000043154" "05112" "00056466" "00006" "Familial, autosomal dominant" "" "Neuropathy, distal hereditary motor, type II" "" "" "" "" "" "" "" "" "" "" "" "0000043155" "05112" "00056467" "00006" "Familial, autosomal dominant" "" "neuropathy, distal hereditary motor, type II" "" "" "" "" "" "" "" "" "" "" "" "0000043156" "02780" "00056468" "00006" "Familial, autosomal dominant" "" "Charcot-Marie-Tooth disease 2L; see paper ..." "" "" "" "" "" "" "" "" "" "" "" "0000043848" "05112" "00057160" "00006" "Familial, autosomal dominant" "" "Neuropathy, distal hereditary motor, type II" "" "" "" "" "" "" "" "" "" "" "" "0000043849" "05112" "00057161" "00006" "Familial, autosomal dominant" "" "neuropathy, distal hereditary motor, type II; exclusive lower motor neuron disease\r\nwithout sensory loss, onset age 15–25y, presenting symptoms paresis extensor muscles big toe later extensor muscles feet, disease progresses rapidly, complete paralysis all distal muscles lower extremities within 5y, EMG chronic neurogenic alterations" "" "" "" "" "" "" "" "" "" "" "" "0000221948" "00198" "00288211" "00006" "Familial" "45y" "decreased muscle tone, hypotonia, muscle weakness, gowers sign, myopathy, shoulder girdle muscle atrophy, difficulty walking, difficulty climbing stairs, frequent falls, abnormal gait" "" "" "" "" "" "" "" "" "" "" "" "0000254607" "05111" "00359311" "00006" "Familial, autosomal dominant" "60y" "see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254608" "05111" "00359312" "00006" "Familial, autosomal dominant" "12y" "see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254609" "05111" "00359313" "00006" "Familial, autosomal dominant" "15y" "see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254610" "05111" "00359314" "00006" "Familial, autosomal dominant" "30y" "see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254611" "05111" "00359315" "00006" "Isolated (sporadic)" "60y" "see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement; CK level 530 (U/L)" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254612" "05111" "00359316" "00006" "Familial, autosomal dominant" "15y" "see paper; ..., distal weakness LL+UL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254613" "05111" "00359317" "00006" "Familial, autosomal dominant" "8y" "see paper; ..., distal weakness LL+UL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000349785" "05299" "00462284" "04799" "Familial, autosomal dominant" "26y" "Spinal rigidity (HP:0003306)" "16y" "" "Difficulty running (HP:0009046)" "" "" "" "" "" "" "myositis" "" "0000349787" "05299" "00462288" "04799" "Familial, autosomal dominant" "61" "" "51" "" "" "" "" "" "" "" "" "myositis" "" "0000349788" "05299" "00462289" "04799" "Familial, autosomal dominant" "24" "Spinal rigidity (HP:0003306)" "15" "" "Difficulty running (HP:0009046)" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000056427" "00056466" "1" "00006" "00006" "2012-11-05 16:17:39" "" "" "SEQ" "DNA" "" "" "0000056428" "00056467" "1" "00006" "00006" "2012-11-05 16:17:39" "" "" "SEQ" "DNA" "" "" "0000056429" "00056468" "1" "00006" "00006" "2012-11-05 16:17:39" "" "" "SEQ" "DNA" "" "" "0000056430" "00056469" "1" "00006" "00006" "2012-11-05 16:17:39" "" "" "SEQ" "DNA" "" "" "0000057121" "00057160" "1" "00006" "00006" "2012-11-05 16:17:39" "" "" "SEQ" "DNA" "" "" "0000057122" "00057161" "1" "00006" "00006" "2012-11-05 16:17:39" "" "" "SEQ" "DNA" "" "" "0000289380" "00288211" "1" "00006" "00006" "2020-02-16 14:03:09" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood, fibroblast" "WES" "0000315508" "00314335" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000360551" "00359311" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360552" "00359312" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360553" "00359313" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360554" "00359314" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360555" "00359315" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360556" "00359316" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360557" "00359317" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000463919" "00462284" "1" "04799" "04799" "2025-02-07 14:18:31" "" "" "SEQ" "DNA" "blood sample" "WES (whole exome sequencing" "0000463920" "00462288" "1" "04799" "04799" "2025-02-07 15:12:28" "" "" "SEQ" "DNA" "blood sample" "" "0000463921" "00462289" "1" "04799" "04799" "2025-02-07 15:22:36" "" "" "SEQ" "DNA" "blood sample" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{geneid}}" "0000056427" "HSPB8" "0000056428" "HSPB8" "0000056429" "HSPB8" "0000056430" "HSPB8" "0000057121" "HSPB8" "0000057122" "HSPB8" "0000289380" "HSPB8" "0000315508" "HSPB8" "0000360551" "HSPB8" "0000360552" "HSPB8" "0000360553" "HSPB8" "0000360554" "HSPB8" "0000360555" "HSPB8" "0000360556" "HSPB8" "0000360557" "HSPB8" "0000463919" "CNTN1" "0000463919" "HSPB8" "0000463919" "NEB" "0000463919" "SLC25A1" "0000463919" "SLC5A7" "0000463919" "SYNE2" "0000463919" "TNXB" "0000463920" "HSPB8" "0000463921" "HSPB8" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 32 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000086674" "1" "90" "12" "119624883" "119624883" "subst" "0" "00006" "HSPB8_000004" "g.119624883A>G" "" "{PMID:Irobi 2004:15122253}, {OMIM608014:0002}" "" "" "" "Germline" "yes" "rs104894351" "0" "" "" "g.119187078A>G" "" "pathogenic" "" "0000086675" "1" "90" "12" "119624885" "119624885" "subst" "0" "00006" "HSPB8_000005" "g.119624885G>C" "" "{PMID:Irobi 2004:15122253}, {OMIM608014:0001}" "" "" "" "Germline" "yes" "rs104894345" "0" "" "" "g.119187080G>C" "" "pathogenic" "" "0000086676" "1" "90" "12" "119624885" "119624885" "subst" "0" "00006" "HSPB8_000006" "g.119624885G>T" "" "{PMID:Tang 2005:15565283}, {OMIM608014:0003}" "" "" "" "Germline" "yes" "rs104894345" "0" "" "" "g.119187080G>T" "" "pathogenic" "" "0000086677" "1" "30" "12" "119631654" "119631654" "subst" "0.0199175" "00006" "HSPB8_000007" "g.119631654C>T" "2/115 CMT cases" "{PMID:Zhang 2005:16086267}" "" "" "" "Germline" "" "rs4628742" "0" "" "" "g.119193849C>T" "" "likely benign" "" "0000087408" "1" "90" "12" "119624883" "119624883" "subst" "0" "00006" "HSPB8_000004" "g.119624883A>G" "" "{PMID:Irobi 2004:15122253}, {OMIM608014:0002}" "" "" "" "Germline" "yes" "rs104894351" "0" "" "" "g.119187078A>G" "" "pathogenic" "" "0000087409" "1" "90" "12" "119624885" "119624885" "subst" "0" "00006" "HSPB8_000005" "g.119624885G>C" "" "{PMID:Irobi 2004:15122253}, {OMIM608014:0001}" "" "" "" "Germline" "yes" "rs104894345" "0" "" "" "g.119187080G>C" "" "pathogenic" "" "0000247136" "0" "10" "12" "119632307" "119632307" "subst" "0" "02330" "HSPB8_000011" "g.119632307A>G" "" "" "" "HSPB8(NM_014365.3):c.*644A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119194502A>G" "" "benign" "" "0000247175" "0" "90" "12" "119624883" "119624883" "subst" "0" "02330" "HSPB8_000004" "g.119624883A>G" "" "" "" "HSPB8(NM_014365.3):c.421A>G (p.K141E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119187078A>G" "" "pathogenic" "" "0000277799" "0" "50" "12" "119617383" "119617383" "subst" "0.000159746" "02330" "HSPB8_000008" "g.119617383C>G" "" "" "" "HSPB8(NM_014365.3):c.266C>G (p.P89R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119179578C>G" "" "VUS" "" "0000277800" "0" "90" "12" "119624885" "119624885" "subst" "0" "02330" "HSPB8_000005" "g.119624885G>C" "" "" "" "HSPB8(NM_014365.3):c.423G>C (p.K141N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119187080G>C" "" "pathogenic" "" "0000277801" "0" "90" "12" "119624885" "119624885" "subst" "0" "02330" "HSPB8_000006" "g.119624885G>T" "" "" "" "HSPB8(NM_014365.3):c.423G>T (p.K141N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119187080G>T" "" "pathogenic" "" "0000277802" "0" "10" "12" "119631488" "119631488" "subst" "0.000540716" "02330" "HSPB8_000010" "g.119631488C>T" "" "" "" "HSPB8(NM_014365.2):c.432-16C>T, HSPB8(NM_014365.3):c.432-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119193683C>T" "" "benign" "" "0000277803" "0" "10" "12" "119631654" "119631654" "subst" "0.0199175" "02330" "HSPB8_000007" "g.119631654C>T" "" "" "" "HSPB8(NM_014365.2):c.582C>T (p.T194=), HSPB8(NM_014365.3):c.582C>T (p.T194=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119193849C>T" "" "benign" "" "0000285139" "0" "10" "12" "119631654" "119631654" "subst" "0.0199175" "02326" "HSPB8_000007" "g.119631654C>T" "" "" "" "HSPB8(NM_014365.2):c.582C>T (p.T194=), HSPB8(NM_014365.3):c.582C>T (p.T194=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119193849C>T" "" "benign" "" "0000546794" "0" "90" "12" "119624883" "119624883" "subst" "0" "02327" "HSPB8_000004" "g.119624883A>G" "" "" "" "HSPB8(NM_014365.3):c.421A>G (p.K141E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119187078A>G" "" "pathogenic" "" "0000546795" "0" "10" "12" "119631624" "119631624" "subst" "0.00378453" "02330" "HSPB8_000012" "g.119631624C>T" "" "" "" "HSPB8(NM_014365.3):c.552C>T (p.N184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119193819C>T" "" "benign" "" "0000546796" "0" "10" "12" "119632347" "119632347" "subst" "0" "02330" "HSPB8_000013" "g.119632347G>A" "" "" "" "HSPB8(NM_014365.3):c.*684G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119194542G>A" "" "benign" "" "0000613902" "0" "30" "12" "119631488" "119631488" "subst" "0.000540716" "02326" "HSPB8_000010" "g.119631488C>T" "" "" "" "HSPB8(NM_014365.2):c.432-16C>T, HSPB8(NM_014365.3):c.432-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119193683C>T" "" "likely benign" "" "0000645309" "11" "70" "12" "119631592" "119631605" "del" "0" "00006" "HSPB8_000014" "g.119631592_119631605del" "" "{PMID:Lee 2019:31607746}" "" "" "" "Germline" "" "" "0" "" "" "g.119193787_119193800del" "{CV:000837712.1}" "likely pathogenic" "" "0000697597" "0" "70" "12" "119631634" "119631634" "del" "0" "00006" "HSPB8_000015" "g.119631634del" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.119193829del" "" "likely pathogenic" "" "0000760577" "1" "70" "12" "119624875" "119624875" "subst" "0" "00006" "HSPB8_000017" "g.119624875A>C" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.119187070A>C" "" "likely pathogenic (dominant)" "" "0000760578" "1" "70" "12" "119624875" "119624875" "subst" "0" "00006" "HSPB8_000017" "g.119624875A>C" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.119187070A>C" "" "likely pathogenic (dominant)" "" "0000760579" "1" "70" "12" "119624875" "119624875" "subst" "0" "00006" "HSPB8_000017" "g.119624875A>C" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.119187070A>C" "" "likely pathogenic (dominant)" "" "0000760580" "0" "90" "12" "119624885" "119624885" "subst" "0" "00006" "HSPB8_000005" "g.119624885G>C" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.119187080G>C" "" "pathogenic (dominant)" "" "0000760581" "0" "70" "12" "119617386" "119617386" "subst" "0" "00006" "HSPB8_000016" "g.119617386C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "De novo" "" "" "0" "" "" "g.119179581C>T" "" "likely pathogenic (dominant)" "" "0000760582" "1" "70" "12" "119624884" "119624884" "subst" "0" "00006" "HSPB8_000018" "g.119624884A>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.119187079A>T" "" "likely pathogenic (dominant)" "" "0000760583" "1" "70" "12" "119624884" "119624884" "subst" "0" "00006" "HSPB8_000018" "g.119624884A>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.119187079A>T" "" "likely pathogenic (dominant)" "" "0000890310" "0" "10" "12" "119624864" "119624864" "subst" "0.00709208" "02330" "HSPB8_000019" "g.119624864T>C" "" "" "" "HSPB8(NM_014365.3):c.402T>C (p.I134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913771" "0" "10" "12" "119631607" "119631607" "subst" "0.00130344" "02330" "HSPB8_000020" "g.119631607G>C" "" "" "" "HSPB8(NM_014365.3):c.535G>C (p.E179Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001023992" "0" "90" "12" "119631643" "119631643" "del" "0" "04799" "HSPB8_000022" "g.119631643del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.119193838del" "" "pathogenic (dominant)" "ACMG" "0001023994" "20" "90" "12" "119631610" "119631614" "del" "0" "04799" "HSPB8_000021" "g.119631610_119631614del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.119193805_119193809del" "" "pathogenic (dominant)" "ACMG" "0001023995" "0" "90" "12" "119631634" "119631634" "del" "0" "04799" "HSPB8_000015" "g.119631634del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.119193829del" "" "pathogenic (dominant)" "ACMG" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes HSPB8 ## Count = 32 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000086674" "00009701" "90" "421" "0" "421" "0" "c.421A>G" "r.(?)" "p.(Lys141Glu)" "2" "0000086675" "00009701" "90" "423" "0" "423" "0" "c.423G>C" "r.(?)" "p.(Lys141Asn)" "2" "0000086676" "00009701" "90" "423" "0" "423" "0" "c.423G>T" "r.(?)" "p.(Lys141Asn)" "2" "0000086677" "00009701" "30" "582" "0" "582" "0" "c.582C>T" "r.(?)" "p.(Thr194=)" "3" "0000087408" "00009701" "90" "421" "0" "421" "0" "c.421A>G" "r.(?)" "p.(Lys141Glu)" "2" "0000087409" "00009701" "90" "423" "0" "423" "0" "c.423G>C" "r.(?)" "p.(Lys141Asn)" "2" "0000247136" "00009701" "10" "1235" "0" "1235" "0" "c.*644A>G" "r.(=)" "p.(=)" "" "0000247175" "00009701" "90" "421" "0" "421" "0" "c.421A>G" "r.(?)" "p.(Lys141Glu)" "" "0000277799" "00009701" "50" "266" "0" "266" "0" "c.266C>G" "r.(?)" "p.(Pro89Arg)" "" "0000277800" "00009701" "90" "423" "0" "423" "0" "c.423G>C" "r.(?)" "p.(Lys141Asn)" "" "0000277801" "00009701" "90" "423" "0" "423" "0" "c.423G>T" "r.(?)" "p.(Lys141Asn)" "" "0000277802" "00009701" "10" "432" "-16" "432" "-16" "c.432-16C>T" "r.(=)" "p.(=)" "" "0000277803" "00009701" "10" "582" "0" "582" "0" "c.582C>T" "r.(?)" "p.(Thr194=)" "" "0000285139" "00009701" "10" "582" "0" "582" "0" "c.582C>T" "r.(?)" "p.(Thr194=)" "" "0000546794" "00009701" "90" "421" "0" "421" "0" "c.421A>G" "r.(?)" "p.(Lys141Glu)" "" "0000546795" "00009701" "10" "552" "0" "552" "0" "c.552C>T" "r.(?)" "p.(Asn184=)" "" "0000546796" "00009701" "10" "1275" "0" "1275" "0" "c.*684G>A" "r.(=)" "p.(=)" "" "0000613902" "00009701" "30" "432" "-16" "432" "-16" "c.432-16C>T" "r.(=)" "p.(=)" "" "0000645309" "00009701" "70" "520" "0" "533" "0" "c.520_533del" "r.520_533del" "p.(Tyr174Argfs*37)" "" "0000697597" "00009701" "70" "562" "0" "562" "0" "c.562del" "r.(?)" "p.(Gln188Argfs*59)" "" "0000760577" "00009701" "70" "413" "0" "413" "0" "c.413A>C" "r.(?)" "p.(Asn138Thr)" "" "0000760578" "00009701" "70" "413" "0" "413" "0" "c.413A>C" "r.(?)" "p.(Asn138Thr)" "" "0000760579" "00009701" "70" "413" "0" "413" "0" "c.413A>C" "r.(?)" "p.(Asn138Thr)" "" "0000760580" "00009701" "90" "423" "0" "423" "0" "c.423G>C" "r.(?)" "p.(Lys141Asn)" "" "0000760581" "00009701" "70" "269" "0" "269" "0" "c.269C>T" "r.(?)" "p.(Pro90Leu)" "" "0000760582" "00009701" "70" "422" "0" "422" "0" "c.422A>T" "r.(?)" "p.(Lys141Met)" "" "0000760583" "00009701" "70" "422" "0" "422" "0" "c.422A>T" "r.(?)" "p.(Lys141Met)" "" "0000890310" "00009701" "10" "402" "0" "402" "0" "c.402T>C" "r.(?)" "p.(Ile134=)" "" "0000913771" "00009701" "10" "535" "0" "535" "0" "c.535G>C" "r.(?)" "p.(Glu179Gln)" "" "0001023992" "00009701" "90" "571" "0" "571" "0" "c.571del" "r.(?)" "p.(Gln191Argfs*56)" "3" "0001023994" "00009701" "90" "538" "0" "542" "0" "c.538_542del" "r.(?)" "p.(Ser180Phefs*34)" "3" "0001023995" "00009701" "90" "562" "0" "562" "0" "c.562del" "r.(?)" "p.(Gln188Argfs*59)" "3" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{variantid}}" "0000056427" "0000086674" "0000056428" "0000086675" "0000056429" "0000086676" "0000056430" "0000086677" "0000057121" "0000087408" "0000057122" "0000087409" "0000289380" "0000645309" "0000315508" "0000697597" "0000360551" "0000760577" "0000360552" "0000760578" "0000360553" "0000760579" "0000360554" "0000760580" "0000360555" "0000760581" "0000360556" "0000760582" "0000360557" "0000760583" "0000463919" "0001023992" "0000463920" "0001023994" "0000463921" "0001023995"