### 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"	"00000"	"2025-05-05 21:14:00"


## 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 = 2
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"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"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"JPH1"	"00244"
"JPH1"	"02709"


## Individuals ## Do not remove or alter this header ##
## Count = 4
"{{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"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{individualid}}"	"{{diseaseid}}"
"00454768"	"00244"
"00454769"	"00244"
"00454770"	"00244"
"00454771"	"00244"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00244, 02709
## Count = 4
"{{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}}"
"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)"	""	""	""	""	""	""	""	""	"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"	""	""	""	""	""	""	""	""	"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"	""	""	""	""	""	""	""	""	"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"	""	""	""	""	""	""	""	""	"congenital myopathy"


## Screenings ## Do not remove or alter this header ##
## Count = 4
"{{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"


## 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 = 5
"{{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"	""


## 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 = 5
"{{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.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}"	"{{variantid}}"
"0000456380"	"0001010038"
"0000456381"	"0001010039"
"0000456382"	"0001010040"
"0000456383"	"0001010041"