### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PANK4)
# 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}}"
"PANK4"	"pantothenate kinase 4"	"1"	"p36.32"	"unknown"	"NC_000001.10"	"UD_132319010725"	""	"https://www.LOVD.nl/PANK4"	""	"1"	"19366"	"55229"	"606162"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"https://databases.lovd.nl/shared/refseq/PANK4_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2018-11-20 19:50:42"	"00000"	"2025-02-07 18:57:27"


## 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}}"
"00015639"	"PANK4"	"pantothenate kinase 4"	"001"	"NM_018216.1"	""	"NP_060686.1"	""	""	""	"-9"	"2633"	"2322"	"2458035"	"2439975"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"05165"	"CCTRCT"	"cataract, congenital (CCTRCT)"	""	""	""	""	""	"00006"	"2016-05-15 20:37:47"	""	""


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


## Individuals ## Do not remove or alter this header ##
## Count = 1
"{{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}}"
"00207341"	""	""	""	"1"	""	"03111"	""	""	""	""	"(China)"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}"	"{{diseaseid}}"
"00207341"	"05165"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 05165
## Count = 0


## Screenings ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000208377"	"00207341"	"1"	"03111"	"03111"	"2018-11-20 08:59:07"	""	""	"microsat;PCRm;RT-PCR;SEQ;SEQ-NG"	"DNA"	"blood"	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{geneid}}"
"0000208377"	"PANK4"


## 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 = 20
"{{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}}"
"0000305839"	"0"	"50"	"1"	"2436005"	"2436005"	"subst"	"0.000150607"	"01943"	"PLCH2_000005"	"g.2436005T>A"	""	""	""	"PLCH2(NM_014638.4):c.3604T>A (p.S1202T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.2504566T>A"	""	"VUS"	""
"0000320469"	"0"	"50"	"1"	"2435530"	"2435530"	"subst"	"0"	"01804"	"PLCH2_000003"	"g.2435530C>A"	""	""	""	"PLCH2(NM_014638.2):c.3129C>A (p.(Ser1043Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.2504091C>A"	""	"VUS"	""
"0000320470"	"0"	"50"	"1"	"2435759"	"2435759"	"subst"	"0.00163564"	"01804"	"PLCH2_000004"	"g.2435759G>A"	""	""	""	"PLCH2(NM_014638.2):c.3358G>A (p.(Val1120Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.2504320G>A"	""	"VUS"	""
"0000320471"	"0"	"50"	"1"	"2436319"	"2436322"	"del"	"0"	"01804"	"PLCH2_000006"	"g.2436319_2436322del"	""	""	""	"PLCH2(NM_014638.2):c.3916_3919del (p.(Thr1307SerfsTer190))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.2504880_2504883del"	""	"VUS"	""
"0000320472"	"0"	"30"	"1"	"2436489"	"2436489"	"subst"	"0.00478614"	"01804"	"PLCH2_000007"	"g.2436489T>G"	""	""	""	"PLCH2(NM_014638.2):c.4088T>G (p.(Leu1363Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.2505050T>G"	""	"likely benign"	""
"0000320473"	"0"	"50"	"1"	"2460988"	"2460988"	"subst"	"0"	"01804"	"HES5_000001"	"g.2460988G>A"	""	""	""	"HES5(NM_001010926.3):c.421C>T (p.(Pro141Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.2529549G>A"	""	"VUS"	""
"0000438213"	"21"	"70"	"1"	"2451906"	"2451906"	"subst"	"0"	"03111"	"PANK4_000001"	"g.2451906C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.2520467C>T"	""	"likely pathogenic"	""
"0000506689"	"0"	"30"	"1"	"2435357"	"2435357"	"subst"	"0"	"01804"	"PANK4_000002"	"g.2435357A>C"	""	""	""	"PLCH2(NM_014638.2):c.2960-4A>C (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.2503918A>C"	""	"likely benign"	""
"0000506693"	"0"	"30"	"1"	"2435373"	"2435373"	"subst"	"0"	"01804"	"PANK4_000006"	"g.2435373T>C"	""	""	""	"PLCH2(NM_014638.2):c.2972T>C (p.(Leu991Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.2503934T>C"	""	"likely benign"	""
"0000506694"	"0"	"30"	"1"	"2435451"	"2435451"	"subst"	"0.0016721"	"01804"	"PANK4_000007"	"g.2435451C>T"	""	""	""	"PLCH2(NM_014638.2):c.3050C>T (p.(Pro1017Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.2504012C>T"	""	"likely benign"	""
"0000506696"	"0"	"30"	"1"	"2435840"	"2435842"	"del"	"0"	"01804"	"PANK4_000008"	"g.2435840_2435842del"	""	""	""	"PLCH2(NM_014638.2):c.3430_3432del (p.(Ser1144del))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.2504401_2504403del"	""	"likely benign"	""
"0000506747"	"0"	"30"	"1"	"2461162"	"2461162"	"subst"	"0.00105418"	"01804"	"HES5_000003"	"g.2461162T>G"	""	""	""	"HES5(NM_001010926.3):c.247A>C (p.(Ser83Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.2529723T>G"	""	"likely benign"	""
"0000506748"	"0"	"30"	"1"	"2461547"	"2461547"	"subst"	"0.00193535"	"01804"	"HES5_000004"	"g.2461547T>C"	""	""	""	"HES5(NM_001010926.3):c.54+3A>G (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.2530108T>C"	""	"likely benign"	""
"0000605595"	"0"	"50"	"1"	"2450033"	"2450033"	"subst"	"0"	"01804"	"PANK4_000012"	"g.2450033C>T"	""	""	""	"PANK4(NM_018216.1):c.1039G>A (p.(Glu347Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.2518594C>T"	""	"VUS"	""
"0000605598"	"0"	"50"	"1"	"2452159"	"2452159"	"subst"	"0"	"01804"	"PANK4_000013"	"g.2452159T>A"	""	""	""	"PANK4(NM_018216.1):c.606+3A>T (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.2520720T>A"	""	"VUS"	""
"0000605599"	"0"	"30"	"1"	"2460961"	"2460963"	"dup"	"0"	"01804"	"HES5_000005"	"g.2460961_2460963dup"	""	""	""	"HES5(NM_001010926.3):c.464_465insCGC (p.(Ala155dup))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.2529522_2529524dup"	""	"likely benign"	""
"0000857404"	"0"	"30"	"1"	"2436536"	"2436536"	"subst"	"0"	"01804"	"PANK4_000014"	"g.2436536C>T"	""	""	""	"PLCH2(NM_014638.2):c.4135C>T (p.(Pro1379Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000991060"	"0"	"50"	"1"	"2450744"	"2450744"	"subst"	"8.2118E-6"	"01804"	"PANK4_000015"	"g.2450744C>T"	""	""	""	"PANK4(NM_018216.1):c.873G>A (p.(Met291Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000991061"	"0"	"30"	"1"	"2452296"	"2452296"	"subst"	"2.77904E-5"	"01804"	"PANK4_000016"	"g.2452296C>T"	""	""	""	"PANK4(NM_018216.1):c.472G>A (p.(Val158Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001024144"	"0"	"50"	"1"	"2453171"	"2453171"	"subst"	"4.06246E-6"	"02327"	"PANK4_000017"	"g.2453171C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"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 PANK4
## Count = 20
"{{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}}"
"0000305839"	"00015639"	"50"	"6603"	"0"	"6603"	"0"	"c.*4281A>T"	"r.(=)"	"p.(=)"	""
"0000320469"	"00015639"	"50"	"7078"	"0"	"7078"	"0"	"c.*4756G>T"	"r.(=)"	"p.(=)"	""
"0000320470"	"00015639"	"50"	"6849"	"0"	"6849"	"0"	"c.*4527C>T"	"r.(=)"	"p.(=)"	""
"0000320471"	"00015639"	"50"	"6288"	"0"	"6291"	"0"	"c.*3966_*3969del"	"r.(=)"	"p.(=)"	""
"0000320472"	"00015639"	"30"	"6119"	"0"	"6119"	"0"	"c.*3797A>C"	"r.(=)"	"p.(=)"	""
"0000320473"	"00015639"	"50"	"-2962"	"0"	"-2962"	"0"	"c.-2962C>T"	"r.(?)"	"p.(=)"	""
"0000438213"	"00015639"	"70"	"607"	"-53"	"607"	"-53"	"c.607-53G>A"	"r.(?)"	"p.(=)"	""
"0000506689"	"00015639"	"30"	"7251"	"0"	"7251"	"0"	"c.*4929T>G"	"r.(=)"	"p.(=)"	""
"0000506693"	"00015639"	"30"	"7235"	"0"	"7235"	"0"	"c.*4913A>G"	"r.(=)"	"p.(=)"	""
"0000506694"	"00015639"	"30"	"7157"	"0"	"7157"	"0"	"c.*4835G>A"	"r.(=)"	"p.(=)"	""
"0000506696"	"00015639"	"30"	"6775"	"0"	"6777"	"0"	"c.*4453_*4455del"	"r.(=)"	"p.(=)"	""
"0000506747"	"00015639"	"30"	"-3136"	"0"	"-3136"	"0"	"c.-3136A>C"	"r.(?)"	"p.(=)"	""
"0000506748"	"00015639"	"30"	"-3521"	"0"	"-3521"	"0"	"c.-3521A>G"	"r.(?)"	"p.(=)"	""
"0000605595"	"00015639"	"50"	"1039"	"0"	"1039"	"0"	"c.1039G>A"	"r.(?)"	"p.(Glu347Lys)"	""
"0000605598"	"00015639"	"50"	"606"	"3"	"606"	"3"	"c.606+3A>T"	"r.spl?"	"p.?"	""
"0000605599"	"00015639"	"30"	"-2921"	"0"	"-2919"	"0"	"c.-2921_-2919dup"	"r.(?)"	"p.(=)"	""
"0000857404"	"00015639"	"30"	"6072"	"0"	"6072"	"0"	"c.*3750G>A"	"r.(=)"	"p.(=)"	""
"0000991060"	"00015639"	"50"	"873"	"0"	"873"	"0"	"c.873G>A"	"r.(?)"	"p.(Met291Ile)"	""
"0000991061"	"00015639"	"30"	"472"	"0"	"472"	"0"	"c.472G>A"	"r.(?)"	"p.(Val158Met)"	""
"0001024144"	"00015639"	"50"	"193"	"0"	"193"	"0"	"c.193G>C"	"r.(?)"	"p.(Asp65His)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{variantid}}"
"0000208377"	"0000438213"