### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = MAP4K4)
# 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}}"
"MAP4K4"	"mitogen-activated protein kinase kinase kinase kinase 4"	"2"	"q11.2-q12"	"unknown"	"NC_000002.11"	"UD_134711888214"	""	"https://www.LOVD.nl/MAP4K4"	""	"1"	"6866"	"9448"	"604666"	"1"	"1"	"1"	"1"	"MANE select NM_001395002.1.\r\nEstablishment 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/MAP4K4_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2022-12-07 10:22:18"	"00006"	"2024-01-23 18:13:56"


## 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}}"
"00025327"	"MAP4K4"	"transcript variant 2"	"001"	"NM_145686.3"	""	"NP_663719.2"	""	""	""	"-378"	"7263"	"3822"	"102314165"	"102511152"	"00006"	"2018-10-21 16:22:01"	""	""


## 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}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"


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


## 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}}"
"00183251"	""	""	""	"1"	""	"00006"	"{PMID:Vora 2017:28518170}"	"fetus"	""	""	"United States"	"<00y00m00d"	"0"	""	""	""	"28518170-Pat8"
"00183252"	""	""	""	"7"	""	"00006"	"Bhoj, ASHG2018 P353"	"4 families with 7 affected"	""	""	""	""	"0"	""	""	""	"ASHG2018-P353"
"00326415"	""	""	""	"1"	""	"00006"	"{PMID:Wang 2018:30120215}"	"2-generation family, 1 affected, non-affected carrier mother"	""	""	"China"	""	"0"	""	""	"Han"	"AVM558"
"00427168"	""	""	""	"1"	""	"00006"	"{PMID:Cesana 2022:36469137}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"no"	"Italy"	""	"0"	""	""	""	"Pat1"
"00427169"	""	""	""	"1"	""	"00006"	"{PMID:Cesana 2022:36469137}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"Denmark"	""	"0"	""	""	""	"Pat2"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{individualid}}"	"{{diseaseid}}"
"00183251"	"00198"
"00183252"	"00198"
"00326415"	"00198"
"00427168"	"05611"
"00427169"	"05611"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 05611
## Count = 5
"{{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}}"
"0000143981"	"00198"	"00183251"	"00006"	"Unknown"	""	"fetus with complex heart defect (hypoplastic left heart, atrial septal defect, aortic atresia); right kidney fused to lower pole of left kidney"	""	""	""	""	""	""	""	""	""	""	""
"0000143982"	"00198"	"00183252"	"00006"	"Unknown"	""	"neurologic dysfunction, cardiac anomalies"	""	""	""	""	""	""	""	""	""	""	""
"0000244876"	"00198"	"00326415"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"brain arteriovenous malformations"	""
"0000318184"	"05611"	"00427168"	"00006"	"Isolated (sporadic)"	"04y02m"	"see paper; ..., delay in the development of neuro-motor milestones and suspicion of autism spectrum disorder"	""	""	"delay idevelopment neuro-motor milestones, suspicion autism spectrum disorder"	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000318185"	"05611"	"00427169"	"00006"	"Isolated (sporadic)"	"03y08m"	"see paper; ..., developmental delay"	""	""	"developmental delay"	""	""	""	""	""	""	"developmental delay"	""


## 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}}"
"0000184208"	"00183251"	"1"	"00006"	"00006"	"2018-10-21 16:32:29"	""	""	"SEQ"	"DNA"	""	"WES"
"0000184209"	"00183252"	"1"	"00006"	"00006"	"2018-10-21 16:43:05"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000327629"	"00326415"	"1"	"00006"	"00006"	"2021-01-11 17:45:23"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000428489"	"00427168"	"1"	"00006"	"00006"	"2022-12-07 10:26:19"	"00006"	"2022-12-07 10:40:40"	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"
"0000428490"	"00427169"	"1"	"00006"	"00006"	"2022-12-07 10:32:20"	"00006"	"2022-12-07 10:40:14"	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}"	"{{geneid}}"
"0000184208"	"MAP4K4"
"0000184209"	"MAP4K4"
"0000327629"	"ENG"
"0000327629"	"MAP4K4"


## 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 = 7
"{{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}}"
"0000408212"	"0"	"90"	"2"	"1"	"4294967295"	""	"0"	"00006"	"MAP4K4_000000"	"g.?C>T"	""	"{PMID:Vora 2017:28518170}"	""	"3568C>T (Gln1190*)"	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000408213"	"0"	"90"	"2"	"0"	"0"	""	"0"	"00006"	"MAP4K4_000000"	"g.?"	""	"Bhoj, ASHG2018 P353"	""	""	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000711409"	"0"	"70"	"2"	"102476316"	"102476316"	"subst"	"0"	"00006"	"MAP4K4_000001"	"g.102476316G>A"	""	"{PMID:Wang 2018:30120215}"	""	"NM_001242559.1:c.1694G>A"	""	"De novo"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000799601"	"0"	"70"	"2"	"102314993"	"102314993"	"subst"	"0"	"02327"	"MAP4K4_000002"	"g.102314993T>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000907875"	"0"	"90"	"2"	"102476192"	"102476193"	"del"	"0"	"00006"	"MAP4K4_000003"	"g.102476192_102476193del"	""	"{PMID:Cesana 2022:36469137}"	""	""	"variant confirmed at RNA level"	"De novo"	""	""	"0"	""	"NM_001395002.1:c.1570_1571del (Leu524ThrfsTer3)"	"g.101859730_101859731del"	""	"pathogenic (dominant)"	""
"0000907876"	"0"	"90"	"2"	"102314600"	"102314600"	"del"	"0"	"00006"	"MAP4K4_000004"	"g.102314600del"	""	"{PMID:Cesana 2022:36469137}"	""	"NM_001395002.1:c.57+1del"	""	"De novo"	""	""	"0"	""	""	"g.101698138del"	""	"pathogenic (dominant)"	""
"0000974203"	"0"	"30"	"2"	"102504275"	"102504275"	"subst"	"0.00090193"	"01804"	"MAP4K4_000005"	"g.102504275C>T"	""	""	""	"MAP4K4(NM_001384497.1):c.3798C>T (p.(Ile1266=))"	"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 MAP4K4
## Count = 7
"{{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}}"
"0000408212"	"00025327"	"90"	"-8388608"	"0"	"8388607"	"0"	"c.?C>T"	"r.?"	"p.?"	""
"0000408213"	"00025327"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""
"0000711409"	"00025327"	"70"	"1601"	"0"	"1601"	"0"	"c.1601G>A"	"r.(?)"	"p.(Arg534Gln)"	""
"0000799601"	"00025327"	"70"	"116"	"0"	"116"	"0"	"c.116T>G"	"r.(?)"	"p.(Val39Gly)"	""
"0000907875"	"00025327"	"90"	"1483"	"-6"	"1483"	"-5"	"c.1483-6_1483-5del"	"r.spl?"	"p.?"	""
"0000907876"	"00025327"	"90"	"57"	"1"	"57"	"1"	"c.57+1del"	"r.57del"	"p.Asp20Ilefs*51"	"1i"
"0000974203"	"00025327"	"30"	"3474"	"0"	"3474"	"0"	"c.3474C>T"	"r.(?)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}"	"{{variantid}}"
"0000184208"	"0000408212"
"0000184209"	"0000408213"
"0000327629"	"0000711409"
"0000428489"	"0000907875"
"0000428490"	"0000907876"