### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = FRMD5)
# 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}}"
"FRMD5"	"FERM domain containing 5"	"15"	"q15.3"	"unknown"	"NC_000015.9"	"UD_136087096429"	""	"https://www.LOVD.nl/FRMD5"	""	"1"	"28214"	"84978"	"616309"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"https://databases.lovd.nl/shared/refseq/FRMD5_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2022-10-13 21:36:47"	"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}}"
"00008143"	"FRMD5"	"transcript variant 2"	"001"	"NM_032892.3"	""	"NP_116281.2"	""	""	""	"-177"	"2066"	"1713"	"44487429"	"44165730"	""	"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}}"
"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 = 1
"{{geneid}}"	"{{diseaseid}}"
"FRMD5"	"05611"


## Individuals ## Do not remove or alter this header ##
## Count = 8
"{{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}}"
"00418960"	""	""	""	"1"	""	"00006"	"{PMID:Lu 2022:36206744}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	"China"	""	"0"	""	""	""	"Pat1"
"00418961"	""	""	""	"1"	""	"00006"	"{PMID:Lu 2022:36206744}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	"China"	""	"0"	""	""	""	"Pat2"
"00418962"	""	""	""	"1"	""	"00006"	"{PMID:Lu 2022:36206744}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	"United States"	""	"0"	""	""	""	"Pat3"
"00418963"	""	""	""	"1"	""	"00006"	"{PMID:Lu 2022:36206744}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	"United States"	""	"0"	""	""	""	"Pat4"
"00418964"	""	""	""	"1"	""	"00006"	"{PMID:Lu 2022:36206744}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"DECIPHER-269740"
"00418965"	""	""	""	"1"	""	"00006"	"{PMID:Lu 2022:36206744}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"DECIPHER-303400"
"00418966"	""	""	""	"1"	""	"00006"	"{PMID:Lu 2022:36206744}"	"2-generation family, 1 affected, unaffected non carrier mother"	"M"	""	"United States"	""	"0"	""	""	""	"Pat7"
"00418967"	""	""	""	"1"	""	"00006"	"{PMID:Lu 2022:36206744}"	"2-generation family, 1 affected, unaffected non carrier mother"	"M"	""	"United States"	""	"0"	""	""	""	"Pat8"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 8
"{{individualid}}"	"{{diseaseid}}"
"00418960"	"05611"
"00418961"	"05611"
"00418962"	"05611"
"00418963"	"05611"
"00418964"	"05611"
"00418965"	"05611"
"00418966"	"05611"
"00418967"	"05611"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 05611
## Count = 8
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"
"0000310247"	"05611"	"00418960"	"00006"	"Isolated (sporadic)"	"3y"	"see paper; ...,  motor delay; developmental delay; seizures; ataxia; no hypotonia; spasticity; strabismus; MRI brain normal; feeding difficulties"	"6m"	""	""	""	""	""	""	"neurodevelopmental delay"
"0000310248"	"05611"	"00418961"	"00006"	"Isolated (sporadic)"	"8y"	"see paper; ...,  motor delay; developmental delay; intellectual disability; seizures; ataxia; hypotonia; spasticity; nystagmus; MRI brain pachygyria in bilateral temporal lobes; feeding difficulties, severe constipation"	"3m"	""	""	""	""	""	""	"neurodevelopmental delay"
"0000310249"	"05611"	"00418962"	"00006"	"Isolated (sporadic)"	"27y"	"see paper; ...,  motor delay; developmental delay; borderline intellectual disability; seizures; ataxia; no hypotonia; no spasticity; opsoclonus; MRI brain normal; myoclonus and dystonia; difficulty with fine motor skills; dyslexia; migraines"	"<0d"	""	""	""	""	""	""	"neurodevelopmental delay"
"0000310250"	"05611"	"00418963"	"00006"	"Isolated (sporadic)"	"17y"	"see paper; ...,  motor delay; developmental delay; intellectual disability; seizures; ataxia; hypotonia; spasticity; ocular vertical nystagmus/flutter; MRI brain normal"	"<0d"	""	""	""	""	""	""	"neurodevelopmental delay"
"0000310251"	"05611"	"00418964"	"00006"	"Isolated (sporadic)"	"18y"	"see paper; ...,  motor delay; developmental delay; intellectual disability; no seizures; ataxia; hypotonia; no spasticity; nystagmus, intermittent flutter with poor fixation, mild myopia, delayed visual maturation; MRI brain normal; learning disability, behavioral problems, dystonia, dyskinetic and spasm-like movements and postures"	"<0d"	""	""	""	""	""	""	"neurodevelopmental delay"
"0000310252"	"05611"	"00418965"	"00006"	"Isolated (sporadic)"	"9y"	"see paper; ...,  motor delay; developmental delay; intellectual disability; no seizures; ataxia; hypotonia; no spasticity; opsoclonus, hypermetropia, visually impaired; MRI brain normal; moderate learning disability, urinary incontinence, behavior and self-regulation concerns, poor sleep, anxiety"	"<0d"	""	""	""	""	""	""	"neurodevelopmental delay"
"0000310253"	"05611"	"00418966"	"00006"	"Unknown"	"16y"	"see paper; ...,  motor delay; developmental delay; intellectual disability; seizures; ataxia; nystagmus, opsoclonus; MRI brain cystic foci in the periventricular white matter; learning problems, fatigue, headaches, interrupted sleep"	"<0d"	""	""	""	""	""	""	"neurodevelopmental delay"
"0000310254"	"05611"	"00418967"	"00006"	"Unknown"	"15y6m"	"see paper; ...,  motor delay; developmental delay; intellectual disability; abnormal EEG; no ataxia; hypotonia; spasticity; intermittent esotropia; MRI brain delays in myelination; autism spectrum disorder;, renal anomalies"	"8m"	""	""	""	""	""	""	"neurodevelopmental delay"


## Screenings ## Do not remove or alter this header ##
## Count = 8
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000420258"	"00418960"	"1"	"00006"	"00006"	"2022-10-13 21:36:14"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000420259"	"00418961"	"1"	"00006"	"00006"	"2022-10-13 21:36:14"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000420260"	"00418962"	"1"	"00006"	"00006"	"2022-10-13 21:36:14"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000420261"	"00418963"	"1"	"00006"	"00006"	"2022-10-13 21:36:14"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000420262"	"00418964"	"1"	"00006"	"00006"	"2022-10-13 21:36:14"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000420263"	"00418965"	"1"	"00006"	"00006"	"2022-10-13 21:36:14"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000420264"	"00418966"	"1"	"00006"	"00006"	"2022-10-13 21:36:14"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000420265"	"00418967"	"1"	"00006"	"00006"	"2022-10-13 21:36:14"	""	""	"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 = 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}}"
"0000880575"	"0"	"90"	"15"	"44202167"	"44202167"	"subst"	"0"	"00006"	"FRMD5_000007"	"g.44202167A>G"	""	"{PMID:Lu 2022:36206744}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.43909969A>G"	""	"pathogenic (dominant)"	""
"0000880576"	"0"	"90"	"15"	"44175985"	"44175985"	"subst"	"0"	"00006"	"FRMD5_000005"	"g.44175985T>C"	""	"{PMID:Lu 2022:36206744}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.43883787T>C"	""	"pathogenic (dominant)"	""
"0000880577"	"0"	"90"	"15"	"44175983"	"44175983"	"subst"	"0"	"00006"	"FRMD5_000004"	"g.44175983G>C"	""	"{PMID:Lu 2022:36206744}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.43883785G>C"	""	"pathogenic (dominant)"	""
"0000880578"	"0"	"90"	"15"	"44175982"	"44175982"	"subst"	"0"	"00006"	"FRMD5_000003"	"g.44175982A>G"	""	"{PMID:Lu 2022:36206744}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.43883784A>G"	""	"pathogenic (dominant)"	""
"0000880579"	"0"	"90"	"15"	"44175982"	"44175982"	"subst"	"0"	"00006"	"FRMD5_000003"	"g.44175982A>G"	""	"{PMID:Lu 2022:36206744}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.43883784A>G"	""	"pathogenic (dominant)"	""
"0000880580"	"0"	"90"	"15"	"44175976"	"44175976"	"subst"	"0"	"00006"	"FRMD5_000002"	"g.44175976A>G"	""	"{PMID:Lu 2022:36206744}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.43883778A>G"	""	"pathogenic (dominant)"	""
"0000880581"	"0"	"90"	"15"	"44175991"	"44175991"	"subst"	"0"	"00006"	"FRMD5_000006"	"g.44175991T>G"	""	"{PMID:Lu 2022:36206744}"	""	""	"father not available"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.43883793T>G"	""	"pathogenic (dominant)"	""
"0000880582"	"0"	"90"	"15"	"44166159"	"44166159"	"subst"	"0"	"00006"	"FRMD5_000001"	"g.44166159T>C"	""	"{PMID:Lu 2022:36206744}"	""	""	"father not available"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.43873961T>C"	""	"pathogenic (dominant)"	""
"0000914289"	"0"	"70"	"15"	"44175989"	"44175989"	"subst"	"0"	"02327"	"FRMD5_000008"	"g.44175989G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000981222"	"0"	"50"	"15"	"44166444"	"44166444"	"subst"	"0"	"02325"	"FRMD5_000009"	"g.44166444C>T"	""	""	""	"FRMD5(NM_001286491.2):c.650G>A (p.G217E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000981223"	"0"	"30"	"15"	"44343042"	"44343042"	"subst"	"0"	"01804"	"FRMD5_000010"	"g.44343042G>C"	""	""	""	"FRMD5(NM_032892.5):c.103-126535C>G"	"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 FRMD5
## 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}}"
"0000880575"	"00008143"	"90"	"340"	"0"	"340"	"0"	"c.340T>C"	"r.(?)"	"p.(Phe114Leu)"	""
"0000880576"	"00008143"	"90"	"1051"	"0"	"1051"	"0"	"c.1051A>G"	"r.(?)"	"p.(Ser351Gly)"	""
"0000880577"	"00008143"	"90"	"1053"	"0"	"1053"	"0"	"c.1053C>G"	"r.(?)"	"p.(Ser351Arg)"	""
"0000880578"	"00008143"	"90"	"1054"	"0"	"1054"	"0"	"c.1054T>C"	"r.(?)"	"p.(Cys352Arg)"	""
"0000880579"	"00008143"	"90"	"1054"	"0"	"1054"	"0"	"c.1054T>C"	"r.(?)"	"p.(Cys352Arg)"	""
"0000880580"	"00008143"	"90"	"1060"	"0"	"1060"	"0"	"c.1060T>C"	"r.(?)"	"p.(Ser354Pro)"	""
"0000880581"	"00008143"	"90"	"1045"	"0"	"1045"	"0"	"c.1045A>C"	"r.(?)"	"p.(Ser349Arg)"	""
"0000880582"	"00008143"	"90"	"1637"	"0"	"1637"	"0"	"c.1637A>G"	"r.(?)"	"p.(Tyr546Cys)"	""
"0000914289"	"00008143"	"70"	"1047"	"0"	"1047"	"0"	"c.1047C>A"	"r.(?)"	"p.(Ser349Arg)"	""
"0000981222"	"00008143"	"50"	"1352"	"0"	"1352"	"0"	"c.1352G>A"	"r.(?)"	"p.(Gly451Glu)"	""
"0000981223"	"00008143"	"30"	"103"	"-126535"	"103"	"-126535"	"c.103-126535C>G"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 8
"{{screeningid}}"	"{{variantid}}"
"0000420258"	"0000880575"
"0000420259"	"0000880576"
"0000420260"	"0000880577"
"0000420261"	"0000880578"
"0000420262"	"0000880579"
"0000420263"	"0000880580"
"0000420264"	"0000880581"
"0000420265"	"0000880582"