### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = FMNL3)
# 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}}"
"FMNL3"	"formin-like 3"	"12"	"q13.12"	"unknown"	"NC_000012.11"	"UD_132464936709"	""	"http://www.LOVD.nl/FMNL3"	""	"1"	"23698"	"91010"	"616288"	"1"	"1"	"1"	"1"	""	""	"g"	"http://databases.lovd.nl/shared/refseq/FMNL3_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2015-03-13 20:24:12"	"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}}"
"00008022"	"FMNL3"	"transcript variant 1"	"002"	"NM_175736.4"	""	"NP_783863.4"	""	""	""	"-234"	"10958"	"3084"	"50101197"	"50031724"	""	"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}}"
"04225"	"-"	"neurodegeneration"	""	""	""	""	""	"00006"	"2015-03-13 20:14:29"	""	""


## 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}}"
"00034216"	""	""	""	"2"	""	"00006"	"{PMID:Kumar 2015:25504045}, {PMID:Kumar 2015:10.1093/hmg/ddu614}, {PMID:Kumar 2022:35091571}"	"3-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents/sibs"	"F;M"	"yes"	""	""	"0"	""	""	"Middle East"	"family"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}"	"{{diseaseid}}"
"00034216"	"04225"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 04225
## 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}}"
"0000027612"	"04225"	"00034216"	"00006"	"Isolated (sporadic)"	""	"see paper;  infantile-onset neurodegenerative disorder, predominant\r\nsensorimotor axonal neuropathy, optic atrophy, cognitive deficit"	""	""	""	""	""	""	""	""	""


## 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}}"
"0000034285"	"00034216"	"1"	"00006"	"00006"	"2015-03-13 20:19:55"	"00006"	"2022-12-20 10:01:40"	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000034285"	"FMNL3"
"0000034285"	"STXBP5L"
"0000034285"	"TIMMDC1"


## 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 = 11
"{{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}}"
"0000061283"	"11"	"70"	"12"	"50100850"	"50100850"	"subst"	"0"	"00006"	"FMNL3_000001"	"g.50100850G>C"	""	"{PMID:Kumar 2015:25504045}, {PMID:Kumar 2015:10.1093/hmg/ddu614}"	""	"114G>C"	"probably not associated with phenotype"	"Germline"	"yes"	""	"0"	""	""	"g.49707067G>C"	""	"likely pathogenic"	""
"0000061284"	"21"	"70"	"12"	"50045947"	"50045947"	"subst"	"0"	"00006"	"FMNL3_000002"	"g.50045947T>G"	""	"{PMID:Kumar 2015:25504045}, {PMID:Kumar 2015:10.1093/hmg/ddu614}"	""	"1372T>G"	"probably not associated with phenotype"	"Germline"	"yes"	""	"0"	""	""	"g.49652164T>G"	""	"likely pathogenic"	""
"0000061285"	"0"	"30"	"12"	"50100850"	"50100850"	"subst"	"0"	"00006"	"FMNL3_000001"	"g.50100850G>C"	""	"{PMID:Kumar 2015:25504045}, {PMID:Kumar 2015:10.1093/hmg/ddu614}"	""	""	"cDNA expression cloning no overexpression difference axonal outgrowth or arborization mouse primary hippocampal neurons overexpressing with/without p.Ile458Leu"	"In vitro (cloned)"	"-"	""	"0"	""	""	"g.49707067G>C"	""	"NA"	""
"0000061286"	"0"	"30"	"12"	"50045947"	"50045947"	"subst"	"0"	"00006"	"FMNL3_000002"	"g.50045947T>G"	""	"{PMID:Kumar 2015:25504045}, {PMID:Kumar 2015:10.1093/hmg/ddu614}"	""	""	"cDNA expression cloning no overexpression difference axonal outgrowth or arborization mouse primary hippocampal neurons overexpressing with/without p.Phe38Leu"	"In vitro (cloned)"	"-"	""	"0"	""	""	"g.49652164T>G"	""	"NA"	""
"0000350551"	"0"	"50"	"12"	"50031548"	"50031548"	"subst"	"0"	"02327"	"PRPF40B_000002"	"g.50031548G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.49637765G>A"	""	"VUS"	""
"0000548421"	"0"	"50"	"12"	"50047117"	"50047117"	"subst"	"0"	"01804"	"FMNL3_000006"	"g.50047117A>G"	""	""	""	"FMNL3(NM_175736.4):c.1222-7T>C (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49653334A>G"	""	"VUS"	""
"0000805788"	"0"	"50"	"12"	"50042107"	"50042107"	"subst"	"6.11396E-5"	"01943"	"FMNL3_000007"	"g.50042107T>G"	""	""	""	"FMNL3(NM_001367835.1):c.2545A>C (p.K849Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000805789"	"0"	"70"	"12"	"50042816"	"50042817"	"dup"	"0"	"01804"	"FMNL3_000008"	"g.50042816_50042817dup"	""	""	""	"FMNL3(NM_175736.4):c.2511_2512insCA (p.(Ala838Glnfs*12))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000853424"	"0"	"30"	"12"	"50045892"	"50045892"	"subst"	"0.000115367"	"01943"	"FMNL3_000010"	"g.50045892C>T"	""	""	""	"FMNL3(NM_001367835.1):c.1427G>A (p.R476Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000863023"	"0"	"50"	"12"	"50041566"	"50041566"	"subst"	"3.24947E-5"	"01943"	"FMNL3_000009"	"g.50041566G>A"	""	""	""	"FMNL3(NM_175736.5):c.2698C>T (p.R900C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000863024"	"0"	"50"	"12"	"50052325"	"50052325"	"subst"	"1.22488E-5"	"01943"	"FMNL3_000011"	"g.50052325G>A"	""	""	""	"FMNL3(NM_175736.5):c.505C>T (p.R169W)"	"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 FMNL3
## Count = 11
"{{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}}"
"0000061283"	"00008022"	"70"	"114"	"0"	"114"	"0"	"c.114C>G"	"r.(?)"	"p.(Phe38Leu)"	"1"
"0000061284"	"00008022"	"70"	"1372"	"0"	"1372"	"0"	"c.1372A>C"	"r.(?)"	"p.(Ile458Leu)"	"14"
"0000061285"	"00008022"	"30"	"114"	"0"	"114"	"0"	"c.114C>G"	"r.(?)"	"p.Phe38Leu"	"1"
"0000061286"	"00008022"	"30"	"1372"	"0"	"1372"	"0"	"c.1372A>C"	"r.(?)"	"p.Ile458Leu"	"14"
"0000350551"	"00008022"	"50"	"11134"	"0"	"11134"	"0"	"c.*8050C>T"	"r.(=)"	"p.(=)"	""
"0000548421"	"00008022"	"50"	"1222"	"-7"	"1222"	"-7"	"c.1222-7T>C"	"r.(=)"	"p.(=)"	""
"0000805788"	"00008022"	"50"	"2545"	"0"	"2545"	"0"	"c.2545A>C"	"r.(?)"	"p.(Lys849Gln)"	""
"0000805789"	"00008022"	"70"	"2510"	"0"	"2511"	"0"	"c.2510_2511dup"	"r.(?)"	"p.(Ala838Glnfs*12)"	""
"0000853424"	"00008022"	"30"	"1427"	"0"	"1427"	"0"	"c.1427G>A"	"r.(?)"	"p.(Arg476Gln)"	""
"0000863023"	"00008022"	"50"	"2698"	"0"	"2698"	"0"	"c.2698C>T"	"r.(?)"	"p.(Arg900Cys)"	""
"0000863024"	"00008022"	"50"	"505"	"0"	"505"	"0"	"c.505C>T"	"r.(?)"	"p.(Arg169Trp)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{variantid}}"
"0000034285"	"0000061283"
"0000034285"	"0000061284"