### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = JPH1)
# 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}}"
"JPH1"	"junctophilin 1"	"8"	"q21"	"unknown"	"NC_000008.10"	"UD_136087910578"	""	"https://www.LOVD.nl/JPH1"	""	"1"	"14201"	"56704"	"605266"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"https://databases.lovd.nl/shared/refseq/JPH1_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2024-09-26 09:28:59"	"00006"	"2026-05-04 13:34:38"


## 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}}"
"00010275"	"JPH1"	"junctophilin 1"	"001"	"NM_020647.2"	""	"NP_065698.1"	""	""	""	"-40"	"4333"	"1986"	"75233562"	"75146939"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{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"
"00244"	"MYOP"	"myopathy (MYOP)"	""	""	""	""	""	"00006"	"2013-10-12 23:00:55"	"00006"	"2019-06-19 11:52:31"
"02709"	"CMT2K"	"Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K"	"AD;AR"	"607831"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2024-09-26 08:42:49"
"07250"	"CMYO25"	"myopathy, congenital, type 25"	"AR"	"620964"	""	""	""	"00006"	"2026-03-30 15:27:20"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}"	"{{diseaseid}}"
"JPH1"	"00244"
"JPH1"	"02709"
"JPH1"	"07250"


## Individuals ## Do not remove or alter this header ##
## Count = 5
"{{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}}"
"00454768"	""	""	""	"1"	""	"00006"	"{PMID:Johari 2024:39209426}"	"2-generation family, 1 affected, unaffected heterozygous carrier mother"	"F"	"yes"	""	""	"0"	""	""	""	"Pat1"
"00454769"	""	""	""	"1"	""	"00006"	"{PMID:Johari 2024:39209426}"	"2-generation family, 1 affected, unaffected heterozygous carrier sister"	"F"	"yes"	""	""	"0"	""	""	""	"Pat2"
"00454770"	""	""	""	"1"	""	"00006"	"{PMID:Johari 2024:39209426}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"yes"	""	""	"0"	""	""	""	"Pat3"
"00454771"	""	""	""	"1"	""	"00006"	"{PMID:Johari 2024:39209426}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"yes"	""	""	"0"	""	""	""	"Pat4"
"00478168"	""	""	""	"1"	""	"00006"	"{PMID:Sambuughin 2024:39457051}"	"analysis 53 cases with exertional heat illness events"	""	""	"United States"	""	"0"	""	""	""	"?"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{individualid}}"	"{{diseaseid}}"
"00454768"	"00244"
"00454769"	"00244"
"00454770"	"00244"
"00454771"	"00244"
"00478168"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 02709, 07250
## Count = 4
"{{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}}"
"0000343387"	"00244"	"00454768"	"00006"	"Familial, autosomal recessive"	"30y-40y"	"11m-not sitting; slowly progressive; walk up to 10 min; mainly manual wheelchair user, able to stand up with assistance, unable to walk; generalised weakness (proximal and distal, upper and lower limbs), facial weakness, ptosis; absent reflexes; talipes at birth; kyphoscoliosis, 12y-surgery, rigid spine (thoraco-lumbar); generalised muscle wasting; bilateral ptosis, ophthalmoplegia; dysphagia; birth respiratory insufficiency, forced vital capacity 0.5 L (0.19), non-invasive ventilation (BiPAP); cleft palate; migraine; mild myopathic changes (in childhood)"	""	""	""	""	""	""	""	""	"CMYO25"	"congenital myopathy"	""
"0000343388"	"00244"	"00454769"	"00006"	"Familial, autosomal recessive"	"40y-50y"	"delayed motor milestones, 3y-walk; progression stable through childhood, slow decline since fourth/fifth decade; walk unaided, able to climb stairs with aid of railing; stand up with assistance, able to walk 10 m with support; generalised weakness (proximal and distal upper and lower limbs), ptosis, facial/neck flexor weakness; absent reflexes; talipes at birth, ankle contractures; dorsal scoliosis, lumbar lordosis, winged scapulae; generalised muscle wasting; ptosis, ophthalmoparesis (surgical correction ptosis and squint in childhood); nasal voice, no dysphagia; no respiratory support, forced vital capacity 1.76 L (0.63), PIMmax 0.43, PEMmax 0.72; cleft palate; myalgia, exercise intolerance; hypoacuasia fourth decade (neural deafness); alcoholic liver cirrhosis; died from hepatic insufficiency (transplant excluded); myopathic features, normal repeat nerve stimulation and jitter; 11y-muscle biopsy quadriceps type 1 myofiber predominance, with <2% of type myofibers, some hypertrophied myofibers and disseminated atrophic myofibers of both types"	""	""	""	""	""	""	""	""	"CMYO25"	"congenital myopathy"	""
"0000343389"	"00244"	"00454770"	"00006"	"Familial, autosomal recessive"	"10y-20y"	"delayed motor milestones, 20m-assisted stand, 2y6m-walk; progression relatively stable through childhood; walk around school, able to run (but slowly, climb stairs with railings; generalised weakness, ptosis, facial diplegia, no neck flexor weakness; absent reflexes LL, reduced reflexes UL; no contracture, hypermobile at ankles; mild lumbar lordosis, no scoliosis; generalised muscle wasting, thin muscle bulk; ptosis, ophthalmoplegia with mild limitation of upward gaze; mild dysarthria; birth short-term nasogastric tube feeds; no respiratory support, forced vital capacity 1.22 L (0.57), forced expiratory volume in 1s 1.20 (0.62), normal sleep study; exercise intolerance with fatigue; 38y-muscle biopsy deltoid type 1 myofiber predominance, few centralised nuclei, occasional hypertrophic myofibers present and scattered hypotrophic type 2 myofibers, mild focal fibrosis, no myofiber degeneration or regeneration, nor abnormalities in NADH-SDH oxidative reactions; EMG slightly reduced triads, occasional small minicore-like foci"	""	""	""	""	""	""	""	""	"CMYO25"	"congenital myopathy"	""
"0000343390"	"00244"	"00454771"	"00006"	"Familial, autosomal recessive"	"01y-10y"	"delayed motor milestones, 20m-assisted stand, 4y-walk; progression relatively stable; walk alone; motor delay, able to walk, climb stairs with railings; severe peripheral hypotonia and distal weakness; generalised weakness, ptosis, no neck flexor weakness; absent reflexes; mild scoliosis; generalised muscle wasting; ptosis, ophthalmoplegia with mild limitation of upward gaze; mild dysarthria, nasogastric tube feeding, now GT feeding; no respiratory support; left vocal cord palsy; bilateral coxa valga, generalised osteopenia; bilateral undescended testes status postorchidopexy dysmorphic; microcephaly; high arched palate; developmental delay; gastroesophageal reflux disease, swallowing incoordination; constipation; muscle biopsy upper arm type 1 myofiber predominance and mostly type 2 myofiber atrophy, no grouping of myofiber types"	""	""	""	""	""	""	""	""	"CMYO25"	"congenital myopathy"	""


## Screenings ## Do not remove or alter this header ##
## Count = 5
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000456380"	"00454768"	"1"	"00006"	"00006"	"2024-09-26 09:29:23"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000456381"	"00454769"	"1"	"00006"	"00006"	"2024-09-26 09:29:23"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000456382"	"00454770"	"1"	"00006"	"00006"	"2024-09-26 09:29:23"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WGS"
"0000456383"	"00454771"	"1"	"00006"	"00006"	"2024-09-26 09:29:23"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000479815"	"00478168"	"1"	"00006"	"00006"	"2026-05-04 13:34:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 0


## 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 = 6
"{{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}}"
"0001010038"	"3"	"70"	"8"	"75233153"	"75233153"	"del"	"0"	"00006"	"JPH1_000003"	"g.75233153del"	""	"{PMID:Johari 2024:39209426}"	""	"373delG"	"ACMG PVS1, PM2_sup"	"Germline"	""	""	"0"	""	""	"g.74320918del"	""	"likely pathogenic (recessive)"	""
"0001010039"	"3"	"70"	"8"	"75233169"	"75233169"	"subst"	"0"	"00006"	"JPH1_000004"	"g.75233169G>T"	""	"{PMID:Johari 2024:39209426}"	""	""	"ACMG PVS1, PM2_sup"	"Germline"	""	""	"0"	""	""	"g.74320934G>T"	""	"likely pathogenic (recessive)"	""
"0001010040"	"3"	"70"	"8"	"75156931"	"75156931"	"del"	"0"	"00006"	"JPH1_000001"	"g.75156931del"	""	"{PMID:Johari 2024:39209426}"	""	"1738delC"	"ACMG PVS1, PM2_sup"	"Germline"	""	""	"0"	""	""	"g.74244696del"	""	"likely pathogenic (recessive)"	""
"0001010041"	"3"	"70"	"8"	"75157159"	"75157159"	"del"	"0"	"00006"	"JPH1_000002"	"g.75157159del"	""	"{PMID:Johari 2024:39209426}"	""	"1510delG"	"ACMG PVS1, PM2_sup"	"Germline"	""	""	"0"	""	""	"g.74244924del"	""	"likely pathogenic (recessive)"	""
"0001037048"	"0"	"30"	"8"	"75185140"	"75185140"	"subst"	"0"	"01804"	"JPH1_000005"	"g.75185140G>A"	""	""	""	"JPH1(NM_020647.4):c.1140-13402C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001075806"	"0"	"50"	"8"	"75156803"	"75156803"	"subst"	"2.45074E-5"	"00006"	"JPH1_000006"	"g.75156803G>C"	""	"{PMID:Sambuughin 2024:39457051}"	""	"JHP1"	"combination with other variants not reported"	"Germline/De novo (untested)"	""	"rs139101026"	"0"	""	""	"g.74244568G>C"	""	"VUS"	""


## 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 JPH1
## Count = 6
"{{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}}"
"0001010038"	"00010275"	"70"	"373"	"0"	"373"	"0"	"c.373del"	"r.(?)"	"p.(Asp125ThrfsTer30)"	"1"
"0001010039"	"00010275"	"70"	"354"	"0"	"354"	"0"	"c.354C>A"	"r.(?)"	"p.(Tyr118Ter)"	"1"
"0001010040"	"00010275"	"70"	"1738"	"0"	"1738"	"0"	"c.1738del"	"r.(?)"	"p.(Leu580TrpfsTer16)"	"4"
"0001010041"	"00010275"	"70"	"1510"	"0"	"1510"	"0"	"c.1510del"	"r.(?)"	"p.(Glu504SerfsTer3)"	"4"
"0001037048"	"00010275"	"30"	"1140"	"-13402"	"1140"	"-13402"	"c.1140-13402C>T"	"r.(=)"	"p.(=)"	""
"0001075806"	"00010275"	"50"	"1866"	"0"	"1866"	"0"	"c.1866C>G"	"r.(?)"	"p.(Ser622Arg)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}"	"{{variantid}}"
"0000456380"	"0001010038"
"0000456381"	"0001010039"
"0000456382"	"0001010040"
"0000456383"	"0001010041"
"0000479815"	"0001075806"