### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CAPN10) # 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}}" "CAPN10" "calpain 10" "2" "q37.3" "unknown" "NG_011558.2" "UD_131962709030" "" "http://www.LOVD.nl/CAPN10" "" "1" "1477" "11132" "605286" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/CAPN10_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2014-10-23 06:07:19" "00000" "2025-11-01 13:22:20" ## 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}}" "00004336" "CAPN10" "transcript variant 1" "001" "NM_023083.3" "" "NP_075571.1" "" "" "" "-196" "2448" "2019" "241526133" "241538526" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "02349" "NIDDM1" "diabetes mellitus, noninsulin-dependent, 1" "" "601283" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CAPN10" "02349" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00387869" "" "" "" "3" "" "00006" "{PMID:Hu 2019:29302074}" "family, 3 affected individuals, first cousin parents" "" "yes" "" "" "0" "" "" "Arab" "M9000010" "00387871" "" "" "" "3" "" "00006" "{PMID:Hu 2019:29302074}" "family, 3 affected individuals, third cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M9000033" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00387869" "00139" "00387871" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 02349 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000281437" "00139" "00387869" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly, epilepsy" "" "" "" "" "" "" "" "" "intellectual disability" "0000281439" "00139" "00387871" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly" "" "" "" "" "" "" "" "" "intellectual disability" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000389100" "00387869" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000389102" "00387871" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000389100" "CAPN10" "0000389102" "CAPN10" ## 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}}" "0000248804" "0" "10" "2" "241538074" "241538074" "subst" "0.978634" "02325" "CAPN10_000003" "g.241538074A>G" "" "" "" "CAPN10(NM_023083.4):c.1996A>G (p.I666V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240598657A>G" "" "benign" "" "0000272596" "0" "50" "2" "241535845" "241535845" "subst" "1.62606E-5" "01943" "CAPN10_000002" "g.241535845C>T" "" "" "" "CAPN10(NM_023083.3):c.1388C>T (p.P463L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240596428C>T" "" "VUS" "" "0000272597" "0" "30" "2" "241531477" "241531477" "subst" "0.00384901" "01943" "CAPN10_000001" "g.241531477C>A" "" "" "" "CAPN10(NM_023083.3):c.598C>A (p.P200T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240592060C>A" "" "likely benign" "" "0000515296" "0" "30" "2" "241526428" "241526428" "subst" "0.00807235" "01804" "CAPN10_000004" "g.241526428C>G" "" "" "" "CAPN10(NM_023083.3):c.100C>G (p.(Leu34Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240587011C>G" "" "likely benign" "" "0000515297" "0" "30" "2" "241528786" "241528786" "subst" "0" "01804" "CAPN10_000005" "g.241528786T>G" "" "" "" "CAPN10(NM_023083.3):c.168T>G (p.(Phe56Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240589369T>G" "" "likely benign" "" "0000515300" "0" "50" "2" "241533340" "241533340" "subst" "7.0058E-5" "01804" "CAPN10_000007" "g.241533340G>C" "" "" "" "CAPN10(NM_023083.3):c.706G>C (p.(Glu236Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240593923G>C" "" "VUS" "" "0000515301" "0" "50" "2" "241534088" "241534088" "subst" "0.00127685" "01943" "CAPN10_000008" "g.241534088C>T" "" "" "" "CAPN10(NM_023083.3):c.959C>T (p.P320L), CAPN10(NM_023083.4):c.959C>T (p.P320L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240594671C>T" "" "VUS" "" "0000515304" "0" "30" "2" "241535888" "241535888" "subst" "0.00104596" "01943" "CAPN10_000010" "g.241535888G>A" "" "" "" "CAPN10(NM_023083.3):c.1431G>A (p.A477=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240596471G>A" "" "likely benign" "" "0000515305" "0" "30" "2" "241536279" "241536279" "subst" "0.00321001" "02325" "CAPN10_000011" "g.241536279C>T" "" "" "" "CAPN10(NM_023083.4):c.1663C>T (p.R555C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240596862C>T" "" "likely benign" "" "0000515306" "0" "50" "2" "241537305" "241537305" "subst" "0" "01943" "CAPN10_000012" "g.241537305G>A" "" "" "" "CAPN10(NM_023083.3):c.1744G>A (p.V582I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240597888G>A" "" "VUS" "" "0000515307" "0" "30" "2" "241537306" "241537306" "subst" "0.0027921" "01804" "CAPN10_000013" "g.241537306T>C" "" "" "" "CAPN10(NM_023083.3):c.1745T>C (p.(Val582Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240597889T>C" "" "likely benign" "" "0000515308" "0" "30" "2" "241537386" "241537386" "subst" "6.12785E-5" "01943" "CAPN10_000014" "g.241537386G>A" "" "" "" "CAPN10(NM_023083.3):c.1825G>A (p.A609T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240597969G>A" "" "likely benign" "" "0000515309" "0" "10" "2" "241537421" "241537421" "subst" "0.583251" "02325" "CAPN10_000015" "g.241537421G>A" "" "" "" "CAPN10(NM_023083.4):c.1860G>A (p.A620=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240598004G>A" "" "benign" "" "0000676578" "0" "50" "2" "241526447" "241526447" "subst" "0" "02325" "CAPN10_000016" "g.241526447A>C" "" "" "" "CAPN10(NM_023083.4):c.119A>C (p.D40A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718670" "0" "50" "2" "241528869" "241528869" "subst" "0" "02325" "CAPN10_000017" "g.241528869A>G" "" "" "" "CAPN10(NM_023083.4):c.251A>G (p.K84R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800520" "0" "50" "2" "241537402" "241537402" "subst" "2.44814E-5" "02325" "CAPN10_000018" "g.241537402G>A" "" "" "" "CAPN10(NM_023083.4):c.1841G>A (p.R614Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000817893" "3" "90" "2" "241528849" "241528849" "subst" "0" "00006" "CAPN10_000019" "g.241528849T>A" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.240589432T>A" "" "pathogenic (recessive)" "ACMG" "0000817895" "3" "90" "2" "241530301" "241530301" "subst" "0" "00006" "CAPN10_000020" "g.241530301C>T" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.240590884C>T" "" "pathogenic (recessive)" "ACMG" "0000849814" "0" "50" "2" "241534088" "241534088" "subst" "0.00127685" "02325" "CAPN10_000008" "g.241534088C>T" "" "" "" "CAPN10(NM_023083.3):c.959C>T (p.P320L), CAPN10(NM_023083.4):c.959C>T (p.P320L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849815" "0" "30" "2" "241535795" "241535795" "subst" "0.000118213" "01943" "CAPN10_000021" "g.241535795C>T" "" "" "" "CAPN10(NM_023083.3):c.1338C>T (p.T446=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911647" "0" "50" "2" "241535783" "241535783" "dup" "0" "02329" "CAPN10_000022" "g.241535783dup" "" "" "" "CAPN10(NM_023083.4):c.1326dupC (p.V443Rfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975125" "0" "50" "2" "241530368" "241530368" "subst" "0" "01804" "CAPN10_000023" "g.241530368T>G" "" "" "" "CAPN10(NM_023083.4):c.410T>G (p.(Phe137Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975126" "0" "50" "2" "241534510" "241534510" "subst" "1.62504E-5" "01804" "CAPN10_000024" "g.241534510G>A" "" "" "" "CAPN10(NM_023083.4):c.1067G>A (p.(Arg356Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975127" "0" "50" "2" "241534537" "241534537" "subst" "0" "01804" "CAPN10_000025" "g.241534537C>T" "" "" "" "CAPN10(NM_023083.4):c.1094C>T (p.(Pro365Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975128" "0" "50" "2" "241534583" "241534583" "subst" "0.000129998" "01804" "CAPN10_000026" "g.241534583C>T" "" "" "" "CAPN10(NM_023083.4):c.1140C>T (p.(Ala380=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975129" "0" "50" "2" "241535922" "241535922" "subst" "5.3325E-5" "01804" "CAPN10_000027" "g.241535922G>A" "" "" "" "CAPN10(NM_023083.4):c.1465G>A (p.(Gly489Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975130" "0" "50" "2" "241536165" "241536165" "subst" "3.36462E-5" "01804" "CAPN10_000028" "g.241536165G>A" "" "" "" "CAPN10(NM_023083.4):c.1549G>A (p.(Val517Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975131" "0" "50" "2" "241537399" "241537399" "subst" "0.00094714" "01804" "CAPN10_000029" "g.241537399G>A" "" "" "" "CAPN10(NM_023083.4):c.1838G>A (p.(Ser613Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033174" "0" "50" "2" "241534551" "241534551" "subst" "2.03094E-5" "01804" "CAPN10_000030" "g.241534551C>T" "" "" "" "CAPN10(NM_023083.4):c.1108C>T (p.(Arg370Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033175" "0" "30" "2" "241537507" "241537507" "subst" "8.33208E-6" "01804" "CAPN10_000031" "g.241537507G>A" "" "" "" "CAPN10(NM_023083.4):c.1943+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051165" "0" "50" "2" "241528817" "241528817" "subst" "0" "01804" "CAPN10_000032" "g.241528817C>T" "" "" "" "CAPN10(NM_023083.4):c.199C>T (p.(Gln67*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051166" "0" "30" "2" "241533473" "241533478" "del" "0" "01804" "CAPN10_000033" "g.241533473_241533478del" "" "" "" "CAPN10(NM_023083.4):c.830+9_830+14del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 CAPN10 ## 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}}" "0000248804" "00004336" "10" "1996" "0" "1996" "0" "c.1996=" "r.(=)" "p.(Val666=)" "" "0000272596" "00004336" "50" "1388" "0" "1388" "0" "c.1388C>T" "r.(?)" "p.(Pro463Leu)" "" "0000272597" "00004336" "30" "598" "0" "598" "0" "c.598C>A" "r.(?)" "p.(Pro200Thr)" "" "0000515296" "00004336" "30" "100" "0" "100" "0" "c.100C>G" "r.(?)" "p.(Leu34Val)" "" "0000515297" "00004336" "30" "168" "0" "168" "0" "c.168T>G" "r.(?)" "p.(Phe56Leu)" "" "0000515300" "00004336" "50" "706" "0" "706" "0" "c.706G>C" "r.(?)" "p.(Glu236Gln)" "" "0000515301" "00004336" "50" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Pro320Leu)" "" "0000515304" "00004336" "30" "1431" "0" "1431" "0" "c.1431G>A" "r.(?)" "p.(Ala477=)" "" "0000515305" "00004336" "30" "1663" "0" "1663" "0" "c.1663C>T" "r.(?)" "p.(Arg555Cys)" "" "0000515306" "00004336" "50" "1744" "0" "1744" "0" "c.1744G>A" "r.(?)" "p.(Val582Ile)" "" "0000515307" "00004336" "30" "1745" "0" "1745" "0" "c.1745T>C" "r.(?)" "p.(Val582Ala)" "" "0000515308" "00004336" "30" "1825" "0" "1825" "0" "c.1825G>A" "r.(?)" "p.(Ala609Thr)" "" "0000515309" "00004336" "10" "1860" "0" "1860" "0" "c.1860G>A" "r.(?)" "p.(Ala620=)" "" "0000676578" "00004336" "50" "119" "0" "119" "0" "c.119A>C" "r.(?)" "p.(Asp40Ala)" "" "0000718670" "00004336" "50" "251" "0" "251" "0" "c.251A>G" "r.(?)" "p.(Lys84Arg)" "" "0000800520" "00004336" "50" "1841" "0" "1841" "0" "c.1841G>A" "r.(?)" "p.(Arg614Gln)" "" "0000817893" "00004336" "90" "231" "0" "231" "0" "c.231T>A" "r.(?)" "p.(Cys77Ter)" "" "0000817895" "00004336" "90" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Gln115Ter)" "" "0000849814" "00004336" "50" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Pro320Leu)" "" "0000849815" "00004336" "30" "1338" "0" "1338" "0" "c.1338C>T" "r.(?)" "p.(Thr446=)" "" "0000911647" "00004336" "50" "1326" "0" "1326" "0" "c.1326dup" "r.(?)" "p.(Val443Argfs*18)" "" "0000975125" "00004336" "50" "410" "0" "410" "0" "c.410T>G" "r.(?)" "p.(Phe137Cys)" "" "0000975126" "00004336" "50" "1067" "0" "1067" "0" "c.1067G>A" "r.(?)" "p.(Arg356Gln)" "" "0000975127" "00004336" "50" "1094" "0" "1094" "0" "c.1094C>T" "r.(?)" "p.(Pro365Leu)" "" "0000975128" "00004336" "50" "1140" "0" "1140" "0" "c.1140C>T" "r.(?)" "p.(=)" "" "0000975129" "00004336" "50" "1465" "0" "1465" "0" "c.1465G>A" "r.(?)" "p.(Gly489Arg)" "" "0000975130" "00004336" "50" "1549" "0" "1549" "0" "c.1549G>A" "r.(?)" "p.(Val517Met)" "" "0000975131" "00004336" "50" "1838" "0" "1838" "0" "c.1838G>A" "r.(?)" "p.(Ser613Asn)" "" "0001033174" "00004336" "50" "1108" "0" "1108" "0" "c.1108C>T" "r.(?)" "p.(Arg370Trp)" "" "0001033175" "00004336" "30" "1943" "3" "1943" "3" "c.1943+3G>A" "r.spl?" "p.?" "" "0001051165" "00004336" "50" "199" "0" "199" "0" "c.199C>T" "r.(?)" "p.(Gln67*)" "" "0001051166" "00004336" "30" "830" "9" "830" "14" "c.830+9_830+14del" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000389100" "0000817893" "0000389102" "0000817895"