### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = FAM166B)
# 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}}"
"FAM166B" "family with sequence similarity 166, member B" "9" "p13.3" "unknown" "NC_000009.11" "UD_136086954761" "" "https://www.LOVD.nl/CIMIP2B" "" "1" "34242" "730112" "0" "1" "1" "1" "1" "NOTE: gene name changed from FAM166B to CIMIP2B\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/FAM166B_codingDNA.html" "1" "" "NOTE: gene name changed from FAM166B to CIMIP2B" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-11-20 15:26:50" "00000" "2024-08-28 13:16:32"
## 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}}"
"00024237" "FAM166B" "transcript variant 1" "003" "NM_001164310.1" "" "NP_001157782.1" "" "" "" "-71" "887" "828" "35563896" "35561945" "00006" "2017-03-05 17:54:51" "" ""
## 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}}"
"00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49"
"04282" "CVI" "cerebral visual impairment (CVI)" "" "" "" "" "" "00006" "2015-06-15 15:37:52" "00006" "2015-06-15 15:38:26"
## 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}}"
"00039399" "" "" "" "1" "" "01158" "{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "F" "yes" "" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}" "{{diseaseid}}"
"00039399" "00139"
"00039399" "04282"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 04282
## Count = 1
"{{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}}"
"0000078835" "04282" "00039399" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" ""
## 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}}"
"0000039640" "00039399" "1" "01158" "01158" "2015-06-15 14:32:40" "" "" "SEQ-NG" "DNA" "" ""
## 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 = 10
"{{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}}"
"0000067253" "11" "30" "9" "35562085" "35562088" "dup" "0" "01158" "FAM166B_000002" "g.35562085_35562088dup" "" "{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "c.745_748dup" "" "Germline" "" "" "0" "" "" "g.35562088_35562091dup" "" "likely benign" ""
"0000067254" "21" "30" "9" "35563190" "35563190" "subst" "0" "01158" "FAM166B_000001" "g.35563190A>G" "" "{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000307504" "0" "30" "9" "35560740" "35560740" "subst" "6.67095E-5" "01943" "RUSC2_000003" "g.35560740C>T" "" "" "" "RUSC2(NM_001135999.1):c.4103C>T (p.S1368L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35560743C>T" "" "likely benign" ""
"0000307505" "0" "50" "9" "35561277" "35561277" "subst" "4.06894E-5" "01943" "RUSC2_000004" "g.35561277C>G" "" "" "" "RUSC2(NM_001135999.1):c.4449C>G (p.D1483E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35561280C>G" "" "VUS" ""
"0000341848" "0" "50" "9" "35560589" "35560589" "subst" "0" "02327" "RUSC2_000006" "g.35560589C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35560592C>T" "" "VUS" ""
"0000722512" "0" "30" "9" "35561014" "35561014" "subst" "8.13319E-6" "01943" "RUSC2_000014" "g.35561014A>G" "" "" "" "RUSC2(NM_001135999.1):c.4269A>G (p.T1423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000722513" "0" "50" "9" "35561342" "35561342" "subst" "0.000158779" "01943" "RUSC2_000015" "g.35561342C>T" "" "" "" "RUSC2(NM_001135999.1):c.4514C>T (p.P1505L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000852267" "0" "30" "9" "35563218" "35563218" "subst" "7.30959E-5" "01943" "RUSC2_000016" "g.35563218T>C" "" "" "" "FAM166B(NM_001164310.3):c.231A>G (p.L77=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000997856" "0" "50" "9" "35558215" "35558215" "subst" "0" "01804" "RUSC2_000025" "g.35558215G>A" "" "" "" "RUSC2(NM_014806.2):c.3082G>A (p.(Val1028Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000997857" "0" "70" "9" "35560427" "35560427" "subst" "0" "01804" "RUSC2_000026" "g.35560427C>T" "" "" "" "RUSC2(NM_014806.2):c.3790C>T (p.(Arg1264*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
## 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 FAM166B
## Count = 10
"{{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}}"
"0000067253" "00024237" "30" "745" "0" "748" "0" "c.745_748dup" "r.(?)" "p.(Phe250*)" "6"
"0000067254" "00024237" "30" "259" "0" "259" "0" "c.259T>C" "r.(?)" "p.(Ser87Gly)" "2"
"0000307504" "00024237" "30" "2092" "0" "2092" "0" "c.*1264G>A" "r.(=)" "p.(=)" ""
"0000307505" "00024237" "50" "1555" "0" "1555" "0" "c.*727G>C" "r.(=)" "p.(=)" ""
"0000341848" "00024237" "50" "2243" "0" "2243" "0" "c.*1415G>A" "r.(=)" "p.(=)" ""
"0000722512" "00024237" "30" "1818" "0" "1818" "0" "c.*990T>C" "r.(=)" "p.(=)" ""
"0000722513" "00024237" "50" "1490" "0" "1490" "0" "c.*662G>A" "r.(=)" "p.(=)" ""
"0000852267" "00024237" "30" "231" "0" "231" "0" "c.231A>G" "r.(?)" "p.(Leu77=)" ""
"0000997856" "00024237" "50" "4617" "0" "4617" "0" "c.*3789C>T" "r.(=)" "p.(=)" ""
"0000997857" "00024237" "70" "2405" "0" "2405" "0" "c.*1577G>A" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{variantid}}"
"0000039640" "0000067253"
"0000039640" "0000067254"