### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CD99L2)
# 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}}"
"CD99L2"	"CD99 molecule-like 2"	"X"	"q28"	"unknown"	"NG_021320.1"	"UD_132118248232"	""	"http://www.LOVD.nl/CD99L2"	""	"1"	"18237"	"83692"	"300846"	"1"	"1"	"1"	"1"	""	""	"g"	"http://databases.lovd.nl/shared/refseq/CD99L2_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00000"	"2009-03-06 00:00:00"	"00006"	"2015-07-27 15:43:21"	"00000"	"2024-04-19 20:27:30"


## 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}}"
"00000359"	"CD99L2"	"transcript variant 1"	"005"	"NM_031462.3"	""	"NP_113650.2"	""	""	""	"-228"	"3487"	"789"	"149934809"	"150067289"	"00000"	"2012-09-13 12:09:49"	""	""


## 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}}"
"00187"	"MRX;IDX"	"mental retardation, X-linked (MRX, intellectual disability (IDX))"	""	""	""	"X-linked"	""	"00006"	"2013-09-05 15:56:47"	"00006"	"2018-12-18 09:23:21"
"01157"	"CHTE"	"Hypothyroidism, central, testicular enlargement (CHTE)"	"XLR"	"300888"	""	""	""	"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 = 0


## 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}}"
"00000208"	""	""	""	"1"	""	"00037"	"{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00000209"	""	""	""	"1"	""	"00037"	"{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00046857"	""	""	""	"3"	""	"00006"	"{PMID:Tarpey 2009:19377476}"	""	"M"	""	""	""	"0"	"for details contact Lucy Raymond (flr24 @ cam.ac.uk)"	""	""	""
"00046858"	""	""	""	"1"	""	"00006"	"{PMID:Tarpey 2009:19377476}"	""	"M"	""	""	""	"0"	"for details contact Lucy Raymond (flr24 @ cam.ac.uk)"	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{individualid}}"	"{{diseaseid}}"
"00000208"	"01157"
"00000209"	"01157"
"00046857"	"00187"
"00046858"	"00187"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00187, 01157
## Count = 4
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Birth/Gestational_age_wk}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"
"0000034314"	"00187"	"00046857"	"00006"	"Familial, X-linked recessive"	""	""	""	""	""	""	""	""	""	""	""	""
"0000034315"	"00187"	"00046858"	"00006"	"Familial, X-linked recessive"	""	""	""	""	""	""	""	""	""	""	""	""
"0000038983"	"01157"	"00000208"	"00006"	"Familial, X-linked recessive"	""	"central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)"	""	""	"3w"	""	""	""	""	""	""	""
"0000038984"	"01157"	"00000209"	"00006"	"Familial, X-linked recessive"	""	"central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)"	""	""	"07y04m"	""	""	""	""	""	""	""


## 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}}"
"0000000209"	"00000208"	"1"	"00037"	"00001"	"2012-09-13 12:02:03"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000000210"	"00000209"	"1"	"00037"	"00001"	"2012-09-13 12:09:36"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000046966"	"00046857"	"1"	"00006"	"00006"	"2009-04-08 13:58:13"	""	""	"SEQ"	"DNA"	""	""
"0000046967"	"00046858"	"1"	"00006"	"00006"	"2009-04-08 13:58:13"	""	""	"SEQ"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{geneid}}"
"0000046966"	"CD99L2"
"0000046967"	"CD99L2"


## 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 = 14
"{{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}}"
"0000007861"	"20"	"30"	"X"	"149937404"	"149937404"	"subst"	"0"	"00037"	"CD99L2_000003"	"g.149937404T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.150768931T>C"	""	"likely benign"	""
"0000010023"	"20"	"30"	"X"	"149937404"	"149937404"	"subst"	"0"	"00037"	"CD99L2_000003"	"g.149937404T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.150768931T>C"	""	"likely benign"	""
"0000010024"	"0"	"30"	"X"	"149938519"	"149938519"	"subst"	"0"	"00037"	"CD99L2_000004"	"g.149938519G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.150770046G>A"	""	"likely benign"	""
"0000075632"	"20"	"30"	"X"	"150067038"	"150067038"	"subst"	"0.00983215"	"00124"	"CD99L2_000001"	"g.150067038G>A"	"3/208 cases"	"{PMID:Tarpey 2009:19377476}"	""	"pF8F"	"recurrent, found 3 times"	"Germline"	""	""	"0"	""	""	"g.150898565G>A"	""	"likely benign"	""
"0000075633"	"20"	"50"	"X"	"149937538"	"149937538"	"subst"	"0.000433712"	"00124"	"CD99L2_000002"	"g.149937538G>A"	"1/208 cases"	"{PMID:Tarpey 2009:19377476}"	""	""	"found once, nonrecurrent change"	"Germline"	""	""	"0"	""	""	"g.150769065G>A"	""	"VUS"	""
"0000335870"	"0"	"30"	"X"	"149931134"	"149931134"	"subst"	"0.000276075"	"01804"	"MTMR1_000022"	"g.149931134G>A"	""	""	""	"MTMR1(NM_003828.2):c.1930G>A (p.(Val644Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150762661G>A"	""	"likely benign"	""
"0000335871"	"0"	"30"	"X"	"149931185"	"149931185"	"subst"	"0.00173506"	"01804"	"MTMR1_000023"	"g.149931185G>A"	""	""	""	"MTMR1(NM_003828.2):c.1981G>A (p.(Val661Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150762712G>A"	""	"likely benign"	""
"0000574129"	"0"	"30"	"X"	"149963926"	"149963926"	"subst"	"0.000531698"	"01943"	"CD99L2_000005"	"g.149963926C>T"	""	""	""	"CD99L2(NM_001242614.1):c.323G>A (p.R108K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150795453C>T"	""	"likely benign"	""
"0000619129"	"0"	"50"	"X"	"149931153"	"149931153"	"subst"	"0"	"01943"	"MTMR1_000029"	"g.149931153G>A"	""	""	""	"MTMR1(NM_001306144.3):c.1973G>A (p.R658Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150762680G>A"	""	"VUS"	""
"0000659134"	"0"	"30"	"X"	"149937538"	"149937538"	"subst"	"0.000433712"	"01804"	"CD99L2_000002"	"g.149937538G>A"	""	""	""	"CD99L2(NM_001184808.1):c.539C>T (p.(Pro180Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150769065G>A"	""	"likely benign"	""
"0000682177"	"0"	"30"	"X"	"149931164"	"149931164"	"subst"	"0"	"01943"	"MTMR1_000031"	"g.149931164C>T"	""	""	""	"MTMR1(NM_001353990.1):c.2011C>T (p.P671S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000728525"	"0"	"30"	"X"	"149931158"	"149931158"	"subst"	"0"	"01943"	"MTMR1_000032"	"g.149931158T>C"	""	""	""	"MTMR1(NM_001353990.1):c.2005T>C (p.S669P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000810010"	"0"	"30"	"X"	"149938799"	"149938799"	"subst"	"0.00010075"	"01943"	"CD99L2_000006"	"g.149938799G>A"	""	""	""	"CD99L2(NM_001242614.1):c.729C>T (p.A243=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000984509"	"0"	"30"	"X"	"149931074"	"149931074"	"subst"	"0.000657078"	"01804"	"MTMR1_000033"	"g.149931074G>A"	""	""	""	"MTMR1(NM_001306144.3):c.1894G>A (p.(Val632Ile))"	"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 CD99L2
## Count = 14
"{{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}}"
"0000007861"	"00000359"	"30"	"892"	"0"	"892"	"0"	"c.*103A>G"	"r.(?)"	"p.(=)"	"11"
"0000010023"	"00000359"	"30"	"892"	"0"	"892"	"0"	"c.*103A>G"	"r.(?)"	"p.(=)"	"11"
"0000010024"	"00000359"	"30"	"721"	"258"	"721"	"258"	"c.721+258C>T"	"r.(=)"	"p.(=)"	"10i"
"0000075632"	"00000359"	"30"	"24"	"0"	"24"	"0"	"c.24C>T"	"r.(?)"	"p.(Phe8=)"	"1"
"0000075633"	"00000359"	"50"	"758"	"0"	"758"	"0"	"c.758C>T"	"r.(?)"	"p.(Pro253Leu)"	"10"
"0000335870"	"00000359"	"30"	"7162"	"0"	"7162"	"0"	"c.*6373C>T"	"r.(=)"	"p.(=)"	""
"0000335871"	"00000359"	"30"	"7111"	"0"	"7111"	"0"	"c.*6322C>T"	"r.(=)"	"p.(=)"	""
"0000574129"	"00000359"	"30"	"311"	"0"	"311"	"0"	"c.311G>A"	"r.(?)"	"p.(Arg104Lys)"	""
"0000619129"	"00000359"	"50"	"7143"	"0"	"7143"	"0"	"c.*6354C>T"	"r.(=)"	"p.(=)"	""
"0000659134"	"00000359"	"30"	"758"	"0"	"758"	"0"	"c.758C>T"	"r.(?)"	"p.(Pro253Leu)"	""
"0000682177"	"00000359"	"30"	"7132"	"0"	"7132"	"0"	"c.*6343G>A"	"r.(=)"	"p.(=)"	""
"0000728525"	"00000359"	"30"	"7138"	"0"	"7138"	"0"	"c.*6349A>G"	"r.(=)"	"p.(=)"	""
"0000810010"	"00000359"	"30"	"699"	"0"	"699"	"0"	"c.699C>T"	"r.(?)"	"p.(Ala233=)"	""
"0000984509"	"00000359"	"30"	"7222"	"0"	"7222"	"0"	"c.*6433C>T"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}"	"{{variantid}}"
"0000000209"	"0000007861"
"0000000210"	"0000010023"
"0000000210"	"0000010024"
"0000046966"	"0000075632"
"0000046967"	"0000075633"