### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FLII) # 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}}" "FLII" "flightless I homolog (Drosophila)" "17" "p11.2" "unknown" "NC_000017.10" "UD_134408482123" "" "https://www.LOVD.nl/FLII" "" "1" "3750" "2314" "600362" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/FLII_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-09-28 14:49:13" "00000" "2025-07-08 13:22:38" ## 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}}" "00008000" "FLII" "transcript variant 1" "002" "NM_002018.3" "" "NP_002009.1" "" "" "" "-226" "4133" "3810" "18162230" "18148129" "" "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}}" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## 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}}" "00327547" "" "" "" "5" "" "00006" "{PMID:Beck 2014:25044745}" "2-generation family, 5 affected (2F, 3M)" "F;M" "yes" "Iraq" "" "0" "" "" "" "family" "00454843" "" "" "" "1" "" "00006" "{PMID:Ruijmbeek 2023:37561591}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "no" "Netherlands" "" "0" "" "" "" "Fam1PatII2" "00454844" "" "" "" "1" "" "00006" "{PMID:Ruijmbeek 2023:37561591}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam2PatII1" "00454845" "" "" "" "1" "" "00006" "{PMID:Ruijmbeek 2023:37561591}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam3PatII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00327547" "04214" "00454843" "04172" "00454844" "04172" "00454845" "04172" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04172, 04214 ## 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}}" "0000245811" "04214" "00327547" "00006" "Familial, autosomal recessive" "" "see paper; ..., Leber congenital amaurosis , Joubert syndrome, polycystic kidney disease" "" "" "" "" "" "" "" "" "" "0000343453" "04172" "00454843" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "pediatric cardiomyopathy" "0000343454" "04172" "00454844" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "pediatric cardiomyopathy" "0000343455" "04172" "00454845" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "pediatric cardiomyopathy" ## 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}}" "0000328762" "00327547" "1" "00006" "00006" "2021-01-23 14:41:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000456454" "00454843" "1" "00006" "00006" "2024-09-28 15:05:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000456455" "00454844" "1" "00006" "00006" "2024-09-28 15:05:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000456456" "00454845" "1" "00006" "00006" "2024-09-28 15:05:36" "" "" "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 = 29 "{{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}}" "0000712846" "1" "50" "17" "18148496" "18148496" "subst" "4.06593E-5" "00000" "FLII_000004" "g.18148496G>A" "" "{PMID:Beck 2014:25044745}" "" "" "" "Germline" "" "" "0" "" "" "g.18245182G>A" "" "VUS" "" "0000712847" "2" "50" "17" "18155793" "18155793" "subst" "0.00294918" "00000" "FLII_000005" "g.18155793T>A" "" "{PMID:Beck 2014:25044745}" "" "" "" "Germline" "" "rs61741784" "0" "" "" "g.18252479T>A" "" "VUS" "" "0000726233" "0" "50" "17" "18149059" "18149059" "subst" "2.84282E-5" "01943" "FLII_000006" "g.18149059G>A" "" "" "" "FLII(NM_002018.3):c.3502C>T (p.R1168W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726234" "0" "50" "17" "18155017" "18155017" "subst" "0" "01943" "FLII_000007" "g.18155017G>A" "" "" "" "FLII(NM_002018.3):c.1360C>T (p.Q454*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914749" "0" "10" "17" "18148485" "18148485" "subst" "0.24953" "02325" "FLII_000008" "g.18148485G>A" "" "" "" "FLII(NM_001256264.2):c.3744C>T (p.H1248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914750" "0" "10" "17" "18161744" "18161744" "subst" "0.246811" "02325" "FLII_000009" "g.18161744C>T" "" "" "" "FLII(NM_001256264.2):c.30+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914751" "0" "10" "17" "18161808" "18161808" "subst" "0.00315913" "02325" "FLII_000010" "g.18161808C>T" "" "" "" "FLII(NM_001256264.2):c.-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000982355" "0" "30" "17" "18150587" "18150587" "subst" "0.000244898" "01804" "FLII_000011" "g.18150587C>T" "" "" "" "FLII(NM_002018.4):c.2572G>A (p.(Gly858Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003019" "0" "50" "17" "18129048" "18129048" "subst" "0" "01804" "FLII_000012" "g.18129048C>T" "" "" "" "LLGL1(NM_004140.3):c.52C>T (p.(Leu18Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003020" "0" "50" "17" "18129076" "18129076" "subst" "0.00028169" "01804" "FLII_000013" "g.18129076A>G" "" "" "" "LLGL1(NM_004140.3):c.80A>G (p.(Lys27Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003021" "0" "50" "17" "18137152" "18137154" "del" "0" "01804" "FLII_000014" "g.18137152_18137154del" "" "" "" "LLGL1(NM_004140.3):c.453_455delAGC (p.(Ala152del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003022" "0" "30" "17" "18139965" "18139965" "subst" "2.03819E-5" "01804" "FLII_000015" "g.18139965C>T" "" "" "" "LLGL1(NM_004140.3):c.1397C>T (p.(Ala466Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003023" "0" "30" "17" "18143975" "18143975" "subst" "4.06474E-5" "01804" "FLII_000016" "g.18143975G>T" "" "" "" "LLGL1(NM_004140.3):c.2290G>T (p.(Val764Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003024" "0" "50" "17" "18144829" "18144829" "subst" "2.44208E-5" "01804" "FLII_000017" "g.18144829G>A" "" "" "" "LLGL1(NM_004140.3):c.2567G>A (p.(Arg856His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003025" "0" "30" "17" "18145891" "18145891" "subst" "2.8462E-5" "01804" "FLII_000018" "g.18145891C>T" "" "" "" "LLGL1(NM_004140.3):c.3065C>T (p.(Thr1022Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003026" "0" "50" "17" "18145908" "18145908" "subst" "3.26091E-5" "01804" "FLII_000019" "g.18145908G>A" "" "" "" "LLGL1(NM_004140.3):c.3082G>A (p.(Asp1028Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003027" "0" "30" "17" "18146115" "18146115" "subst" "0" "01804" "FLII_000020" "g.18146115T>C" "" "" "" "LLGL1(NM_004140.3):c.3175T>C (p.(Cys1059Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001010139" "1" "70" "17" "18155017" "18155017" "subst" "0" "00006" "FLII_000007" "g.18155017G>A" "" "{PMID:Ruijmbeek 2023:37561591}" "" "" "" "Germline" "" "" "0" "" "" "g.18251703G>A" "" "likely pathogenic (recessive)" "" "0001010140" "3" "70" "17" "18152034" "18152034" "subst" "0" "00006" "FLII_000022" "g.18152034G>C" "" "{PMID:Ruijmbeek 2023:37561591}" "" "" "" "Germline" "" "" "0" "" "" "g.18248720G>C" "" "likely pathogenic (recessive)" "" "0001010141" "3" "70" "17" "18148544" "18148544" "subst" "4.47267E-5" "00006" "FLII_000021" "g.18148544G>A" "" "{PMID:Ruijmbeek 2023:37561591}" "" "" "" "Germline" "" "" "0" "" "" "g.18245230G>A" "" "likely pathogenic (recessive)" "" "0001010142" "2" "70" "17" "18149059" "18149059" "subst" "2.84282E-5" "00006" "FLII_000006" "g.18149059G>A" "" "{PMID:Ruijmbeek 2023:37561591}" "" "" "" "Germline" "" "" "0" "" "" "g.18245745G>A" "" "likely pathogenic (recessive)" "" "0001026827" "0" "50" "17" "18149133" "18149133" "subst" "0.000714669" "02326" "FLII_000023" "g.18149133A>T" "" "" "" "FLII(NM_001256264.2):c.3395T>A (p.F1132Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041670" "0" "30" "17" "18148884" "18148884" "subst" "0.00036975" "02326" "FLII_000024" "g.18148884T>A" "" "" "" "FLII(NM_001256264.2):c.3561A>T (p.L1187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041671" "0" "30" "17" "18149093" "18149093" "subst" "0.000353291" "02326" "FLII_000025" "g.18149093G>A" "" "" "" "FLII(NM_001256264.2):c.3435C>T (p.D1145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041672" "0" "50" "17" "18151078" "18151078" "subst" "2.92432E-5" "02326" "FLII_000026" "g.18151078G>A" "" "" "" "FLII(NM_001256264.2):c.2347C>T (p.R783C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041673" "0" "10" "17" "18152096" "18152096" "subst" "0.000374008" "02326" "FLII_000027" "g.18152096C>G" "" "" "" "FLII(NM_001256264.2):c.1985+18G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046599" "0" "10" "17" "18148534" "18148534" "subst" "0.0176768" "02326" "FLII_000028" "g.18148534C>T" "" "" "" "FLII(NM_001256264.2):c.3695G>A (p.R1232H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046600" "0" "50" "17" "18156698" "18156699" "ins" "0" "02326" "FLII_000029" "g.18156698_18156699insCTT" "" "" "" "FLII(NM_001256264.2):c.896_897insAAG (p.S300dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046601" "0" "50" "17" "18156711" "18156712" "ins" "0" "02326" "FLII_000030" "g.18156711_18156712insGGGC" "" "" "" "FLII(NM_001256264.2):c.883_884insGCCC (p.F295Cfs*3)" "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 FLII ## Count = 29 "{{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}}" "0000712846" "00008000" "50" "3766" "0" "3766" "0" "c.3766C>T" "r.(?)" "p.(Arg1256Cys)" "" "0000712847" "00008000" "50" "1091" "0" "1091" "0" "c.1091A>T" "r.(?)" "p.(Glu364Val)" "" "0000726233" "00008000" "50" "3502" "0" "3502" "0" "c.3502C>T" "r.(?)" "p.(Arg1168Trp)" "" "0000726234" "00008000" "50" "1360" "0" "1360" "0" "c.1360C>T" "r.(?)" "p.(Gln454*)" "" "0000914749" "00008000" "10" "3777" "0" "3777" "0" "c.3777C>T" "r.(?)" "p.(His1259=)" "" "0000914750" "00008000" "10" "63" "198" "63" "198" "c.63+198G>A" "r.(=)" "p.(=)" "" "0000914751" "00008000" "10" "63" "134" "63" "134" "c.63+134G>A" "r.(=)" "p.(=)" "" "0000982355" "00008000" "30" "2572" "0" "2572" "0" "c.2572G>A" "r.(?)" "p.(Gly858Ser)" "" "0001003019" "00008000" "50" "23214" "0" "23214" "0" "c.*19404G>A" "r.(=)" "p.(=)" "" "0001003020" "00008000" "50" "23186" "0" "23186" "0" "c.*19376T>C" "r.(=)" "p.(=)" "" "0001003021" "00008000" "50" "15111" "0" "15113" "0" "c.*11301_*11303del" "r.(=)" "p.(=)" "" "0001003022" "00008000" "30" "12297" "0" "12297" "0" "c.*8487G>A" "r.(=)" "p.(=)" "" "0001003023" "00008000" "30" "8287" "0" "8287" "0" "c.*4477C>A" "r.(=)" "p.(=)" "" "0001003024" "00008000" "50" "7433" "0" "7433" "0" "c.*3623C>T" "r.(=)" "p.(=)" "" "0001003025" "00008000" "30" "6371" "0" "6371" "0" "c.*2561G>A" "r.(=)" "p.(=)" "" "0001003026" "00008000" "50" "6354" "0" "6354" "0" "c.*2544C>T" "r.(=)" "p.(=)" "" "0001003027" "00008000" "30" "6147" "0" "6147" "0" "c.*2337A>G" "r.(=)" "p.(=)" "" "0001010139" "00008000" "70" "1360" "0" "1360" "0" "c.1360C>T" "r.(?)" "p.(Gln454Ter)" "" "0001010140" "00008000" "70" "2020" "0" "2020" "0" "c.2020C>G" "r.(?)" "p.(Leu674Val)" "" "0001010141" "00008000" "70" "3718" "0" "3718" "0" "c.3718C>T" "r.(?)" "p.(Arg1240Cys)" "" "0001010142" "00008000" "70" "3502" "0" "3502" "0" "c.3502C>T" "r.(?)" "p.(Arg1168Trp)" "" "0001026827" "00008000" "50" "3428" "0" "3428" "0" "c.3428T>A" "r.(?)" "p.(Phe1143Tyr)" "" "0001041670" "00008000" "30" "3594" "0" "3594" "0" "c.3594A>T" "r.(?)" "p.(=)" "" "0001041671" "00008000" "30" "3468" "0" "3468" "0" "c.3468C>T" "r.(?)" "p.(=)" "" "0001041672" "00008000" "50" "2380" "0" "2380" "0" "c.2380C>T" "r.(?)" "p.(Arg794Cys)" "" "0001041673" "00008000" "10" "2018" "18" "2018" "18" "c.2018+18G>C" "r.(=)" "p.(=)" "" "0001046599" "00008000" "10" "3728" "0" "3728" "0" "c.3728G>A" "r.(?)" "p.(Arg1243His)" "" "0001046600" "00008000" "50" "929" "0" "930" "0" "c.929_930insAAG" "r.(?)" "p.(Ser311dup)" "" "0001046601" "00008000" "50" "916" "0" "917" "0" "c.916_917insGCCC" "r.(?)" "p.(Phe306Cysfs*3)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000328762" "0000712846" "0000328762" "0000712847" "0000456454" "0001010139" "0000456454" "0001010142" "0000456455" "0001010140" "0000456456" "0001010141"