### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FSIP2) # 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}}" "FSIP2" "fibrous sheath interacting protein 2" "2" "q32.1" "unknown" "NG_051365.1" "UD_134711348181" "" "https://www.LOVD.nl/FSIP2" "" "1" "21675" "401024" "615796" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/FSIP2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-02-13 22:47:37" "00000" "2025-11-01 13:22:20" ## 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}}" "00008174" "FSIP2" "fibrous sheath interacting protein 2" "001" "NM_173651.2" "" "NP_775922.2" "" "" "" "1" "21054" "20991" "186603355" "186698016" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05562" "SPGF" "spermatogenic failure (SPGF)" "" "" "" "" "" "00006" "2019-02-13 22:06:30" "" "" "05563" "SPGF34" "spermatogenic failure, type 34 (SPGF-34)" "AR" "618153" "" "autosomal recessive" "" "00006" "2019-02-13 22:49:41" "00006" "2021-12-10 21:51:32" "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}}" "FSIP2" "05563" ## 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}}" "00225421" "" "" "" "1" "" "00006" "{PMID:Martinez 2018:30137358}" "" "M" "" "" "" "0" "" "" "Tunisia" "30137358-PatFSIP-1" "00225422" "" "" "" "1" "" "00006" "{PMID:Martinez 2018:30137358}" "" "M" "" "" "" "0" "" "" "Tunisia" "30137358-PatFSIP-2" "00225423" "" "" "" "1" "" "00006" "{PMID:Martinez 2018:30137358}" "" "M" "" "" "" "0" "" "" "Tunisia" "30137358-PatFSIP-3" "00225424" "" "" "" "1" "" "00006" "{PMID:Martinez 2018:30137358}" "" "M" "" "" "" "0" "" "" "Tunisia" "30137358-PatFSIP-4" "00225425" "" "" "" "1" "" "00006" "{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}" "" "M" "" "" "" "0" "" "" "Tunisia" "30686508-PatFSIP-5" "00225426" "" "" "" "1" "" "00006" "{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}" "" "M" "" "" "" "0" "" "" "Tunisia" "30686508-PatFSIP-6" "00225427" "" "" "" "1" "" "00006" "{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}" "" "M" "" "" "" "0" "" "" "Tunisia" "30686508-PatFSIP-7" "00416237" "" "" "00019959" "1" "" "00006" "{PMID:Fregeau 2016:27087320}" "affected twin brother" "M" "" "Netherlands" "" "0" "" "" "" "Pat7" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00225421" "05562" "00225422" "05562" "00225423" "05562" "00225424" "05562" "00225425" "05562" "00225426" "05562" "00225427" "05562" "00416237" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05562, 05563, 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}}" "0000170538" "05562" "00225421" "00006" "Familial, autosomal recessive" "" "male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)" "" "" "" "" "" "" "" "male fertility" "0000170539" "05562" "00225422" "00006" "Familial, autosomal recessive" "" "male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)" "" "" "" "" "" "" "" "male fertility" "0000170540" "05562" "00225423" "00006" "Familial, autosomal recessive" "" "male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)" "" "" "" "" "" "" "" "male fertility" "0000170541" "05562" "00225424" "00006" "Familial, autosomal recessive" "" "male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)" "" "" "" "" "" "" "" "male fertility" "0000170542" "05562" "00225425" "00006" "Familial, autosomal recessive" "" "male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)" "" "" "" "" "" "" "" "male fertility" "0000170543" "05562" "00225426" "00006" "Familial, autosomal recessive" "" "male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)" "" "" "" "" "" "" "" "male fertility" "0000170544" "05562" "00225427" "00006" "Familial, autosomal recessive" "" "male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)" "" "" "" "" "" "" "" "male fertility" "0000308004" "05611" "00416237" "00006" "Isolated (sporadic)" "11y" "see paper; ..., no intrauterine growth retardation; intellectual disability/developmental delay/autism; no seizures; hypotonia; no behavioral problems; no spastic quadriparesis; ttention deficit hyperactivity disorder; feeding/swallowing problems; thin corpus callosum; diminished white matter volume; no abnormal cerebellar vermis; no ventriculomegaly; no small pons; no abnormal hippocampus; small anterior commissure; no delayed myelination; no coloboma; no optic nerve atrophy/hypoplasia; no microphthalmia; no Peter’s anomaly; no iris anomalies; no blepharophimosis; no sensorineural hearing loss; no choanal atresia; cleft lip; no ventricular septal defect; no patent foramen ovale; no patent ductus arteriosus; no anomalous pulmonary venous return; no gastroesophageal reflux disease; no duodenal atresia; no annular pancreas; no pyloric hypertrophy; no vesicoureteral reflux; no cystic kidney; no hypospadias; no cryptorchidism; no syndactyly; no hip dysplasia; no scoliosis; no lumbar lordosis; no tall stature (≥98th centile); short stature (≤2nd centile); no macrocephaly (≥98th centile); microcephaly (≤2nd centile); no third fontanel; no frontal bossing; no triangular face; no abnormal eyebrows; no hypotelorism; no hypertelorism; no upslanting palpebral fissures; down-slanting palpebral fissures; no small palpebral fissures; no epicanthal folds; no deeply set eyes; no blepharaophymosis; no abnormal ears; no preauricular pits; no bulbous nose; no anteverted nares; no flat philtrum; no full lips; no small mouth; no furrowed tongue; no abnormal teeth; no broad alveolar ridges; no high arched palate; no micrognathia; no small nipples; no inverted nipples; no small hands; no syndactyly; no 5th finger clinodactyly; no digital anomalies; no nail hypoplasia; abnormal palmar creases; no widow’s peak; no sacral hair tuft; no cafe au lait spots" "" "" "" "" "" "" "" "neurodevelopmental disorder" ## 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}}" "0000226500" "00225421" "1" "00006" "00006" "2019-02-15 17:38:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226501" "00225422" "1" "00006" "00006" "2019-02-15 17:38:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226502" "00225423" "1" "00006" "00006" "2019-02-15 17:38:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226503" "00225424" "1" "00006" "00006" "2019-02-15 17:38:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226504" "00225425" "1" "00006" "00006" "2019-02-15 17:38:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226505" "00225426" "1" "00006" "00006" "2019-02-15 17:38:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226506" "00225427" "1" "00006" "00006" "2019-02-15 17:38:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000417517" "00416237" "1" "00006" "00006" "2022-08-25 17:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000226500" "FSIP2" "0000226501" "FSIP2" "0000226502" "FSIP2" "0000226503" "FSIP2" "0000226504" "FSIP2" "0000226505" "FSIP2" "0000226506" "FSIP2" ## 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 = 53 "{{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}}" "0000287967" "0" "30" "2" "186667459" "186667459" "subst" "0.000393511" "01943" "FSIP2_000008" "g.186667459C>T" "" "" "" "FSIP2(NM_173651.3):c.13426C>T (p.L4476=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185802732C>T" "" "likely benign" "" "0000287968" "0" "50" "2" "186668929" "186668929" "subst" "0.000375491" "01943" "FSIP2_000011" "g.186668929C>T" "" "" "" "FSIP2(NM_173651.3):c.14896C>T (p.H4966Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185804202C>T" "" "VUS" "" "0000287969" "0" "50" "2" "186655615" "186655615" "subst" "0.000101262" "01943" "FSIP2_000001" "g.186655615G>T" "" "" "" "FSIP2(NM_173651.3):c.3752G>T (p.S1251I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185790888G>T" "" "VUS" "" "0000328002" "0" "50" "2" "186656108" "186656108" "subst" "5.33195E-5" "01804" "FSIP2_000002" "g.186656108C>A" "" "" "" "FSIP2(NM_173651.2):c.4512C>A (p.(His1504Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185791381C>A" "" "VUS" "" "0000328003" "0" "50" "2" "186656353" "186656355" "del" "0" "01804" "FSIP2_000003" "g.186656353_186656355del" "" "" "" "FSIP2(NM_173651.2):c.4754_4756del (p.(Gly1586del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185791626_185791628del" "" "VUS" "" "0000328004" "0" "50" "2" "186656460" "186656460" "subst" "0.000353251" "01804" "FSIP2_000004" "g.186656460T>A" "" "" "" "FSIP2(NM_173651.2):c.4864T>A (p.(Ser1622Thr)), FSIP2(NM_173651.3):c.4597T>A (p.S1533T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185791733T>A" "" "VUS" "" "0000328005" "0" "50" "2" "186659025" "186659027" "del" "3.18527E-5" "01804" "FSIP2_000005" "g.186659025_186659027del" "" "" "" "FSIP2(NM_173651.2):c.7429_7431del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185794298_185794300del" "" "VUS" "" "0000328006" "0" "50" "2" "186660476" "186660476" "subst" "0.000145643" "01804" "FSIP2_000006" "g.186660476A>G" "" "" "" "FSIP2(NM_173651.2):c.8880A>G (p.(Ile2960Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185795749A>G" "" "VUS" "" "0000328007" "0" "50" "2" "186666727" "186666727" "subst" "8.30427E-6" "01804" "FSIP2_000007" "g.186666727C>T" "" "" "" "FSIP2(NM_173651.2):c.12961C>T (p.(Gln4321Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185802000C>T" "" "VUS" "" "0000328008" "0" "50" "2" "186668433" "186668433" "subst" "0.000783567" "01804" "FSIP2_000009" "g.186668433G>T" "" "" "" "FSIP2(NM_173651.2):c.14667G>T (p.(Gln4889His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185803706G>T" "" "VUS" "" "0000328009" "0" "50" "2" "186668645" "186668645" "subst" "0.00025818" "01804" "FSIP2_000010" "g.186668645T>G" "" "" "" "FSIP2(NM_173651.2):c.14879T>G (p.(Leu4960Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185803918T>G" "" "VUS" "" "0000328010" "0" "50" "2" "186669008" "186669008" "subst" "7.8974E-6" "01804" "FSIP2_000012" "g.186669008T>C" "" "" "" "FSIP2(NM_173651.2):c.15242T>C (p.(Ile5081Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185804281T>C" "" "VUS" "" "0000328011" "0" "50" "2" "186669251" "186669251" "subst" "0" "01804" "FSIP2_000013" "g.186669251T>C" "" "" "" "FSIP2(NM_173651.2):c.15485T>C (p.(Leu5162Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185804524T>C" "" "VUS" "" "0000328012" "0" "50" "2" "186673628" "186673628" "subst" "0.00164879" "01804" "FSIP2_000014" "g.186673628T>C" "" "" "" "FSIP2(NM_173651.2):c.19862T>C (p.(Ile6621Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.185808901T>C" "" "VUS" "" "0000458748" "3" "90" "2" "186654145" "186654145" "dup" "0" "00006" "FSIP2_000017" "g.186654145dup" "1/167 cases MMAF" "{PMID:Martinez 2018:30137358}" "" "2282dupA" "" "Germline" "" "" "0" "" "" "g.185789418dup" "" "pathogenic (recessive)" "" "0000458749" "3" "90" "2" "186618488" "186618488" "del" "9.03489E-6" "00006" "FSIP2_000016" "g.186618488del" "2/167 cases MMAF" "{PMID:Martinez 2018:30137358}" "" "910delC" "" "Germline" "" "" "0" "" "" "g.185753761del" "" "pathogenic (recessive)" "" "0000458750" "3" "90" "2" "186618488" "186618488" "del" "9.03489E-6" "00006" "FSIP2_000016" "g.186618488del" "2/167 cases MMAF" "{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}" "" "910delC" "" "Germline" "" "" "0" "" "" "g.185753761del" "" "pathogenic (recessive)" "" "0000458751" "3" "90" "2" "186653470" "186653479" "del" "0" "00006" "FSIP2_000015" "g.186653470_186653479delinsTGT" "1/167 cases MMAF" "{PMID:Martinez 2018:30137358}" "" "1606_1607insTGT;1607_1616delAAAGATTGCA" "" "Germline" "" "" "0" "" "" "g.185788743_185788752delinsTGT" "" "pathogenic (recessive)" "" "0000458752" "3" "90" "2" "186670426" "186670429" "del" "0" "00006" "FSIP2_000018" "g.186670426_186670429del" "1/167 cases MMAF" "{PMID:Martinez 2018:30137358}" "" "16389_16392delAATA" "" "Germline" "" "" "0" "" "" "g.185805699_185805702del" "" "pathogenic (recessive)" "" "0000458753" "3" "90" "2" "186659866" "186659866" "subst" "2.2728E-5" "00006" "FSIP2_000019" "g.186659866C>A" "1/167 cases MMAF" "{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}" "" "8003C>A" "" "Germline" "" "" "0" "" "" "g.185795139C>A" "" "pathogenic (recessive)" "" "0000458754" "3" "90" "2" "186655115" "186655115" "del" "0" "00006" "FSIP2_000020" "g.186655115del" "1/167 cases MMAF" "{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}" "" "3252delA" "" "Germline" "" "" "0" "" "" "g.185790388del" "" "pathogenic (recessive)" "" "0000513647" "0" "30" "2" "186629263" "186629263" "subst" "0" "01943" "FSIP2_000022" "g.186629263C>A" "" "" "" "FSIP2(NM_173651.3):c.1382C>A (p.T461N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185764536C>A" "" "likely benign" "" "0000513648" "0" "50" "2" "186657147" "186657147" "subst" "5.31277E-5" "01943" "FSIP2_000023" "g.186657147T>G" "" "" "" "FSIP2(NM_173651.3):c.5284T>G (p.L1762V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185792420T>G" "" "VUS" "" "0000513649" "0" "30" "2" "186658699" "186658699" "subst" "3.09372E-5" "01943" "FSIP2_000024" "g.186658699G>A" "" "" "" "FSIP2(NM_173651.3):c.6836G>A (p.S2279N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185793972G>A" "" "likely benign" "" "0000513650" "0" "30" "2" "186661534" "186661534" "subst" "0.000355937" "01943" "FSIP2_000025" "g.186661534C>T" "" "" "" "FSIP2(NM_173651.3):c.9671C>T (p.T3224M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185796807C>T" "" "likely benign" "" "0000513653" "0" "50" "2" "186672788" "186672788" "subst" "0" "01943" "FSIP2_000028" "g.186672788T>C" "" "" "" "FSIP2(NM_173651.3):c.18755T>C (p.I6252T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185808061T>C" "" "VUS" "" "0000513655" "0" "50" "2" "186678579" "186678579" "subst" "4.11814E-6" "01943" "FSIP2_000030" "g.186678579T>G" "" "" "" "FSIP2(NM_173651.3):c.20135T>G (p.F6712C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185813852T>G" "" "VUS" "" "0000607339" "0" "50" "2" "186611436" "186611436" "subst" "4.60907E-5" "01943" "FSIP2_000031" "g.186611436C>T" "" "" "" "FSIP2(NM_173651.3):c.658C>T (p.R220C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185746709C>T" "" "VUS" "" "0000607340" "0" "30" "2" "186665617" "186665617" "subst" "0" "01943" "FSIP2_000032" "g.186665617G>T" "" "" "" "FSIP2(NM_173651.3):c.11584G>T (p.A3862S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185800890G>T" "" "likely benign" "" "0000607341" "0" "50" "2" "186672136" "186672136" "subst" "0" "01943" "FSIP2_000033" "g.186672136G>A" "" "" "" "FSIP2(NM_173651.3):c.18103G>A (p.E6035K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.185807409G>A" "" "VUS" "" "0000688580" "0" "50" "2" "186618493" "186618493" "subst" "0" "01943" "FSIP2_000034" "g.186618493A>C" "" "" "" "FSIP2(NM_173651.3):c.915A>C (p.K305N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688581" "0" "30" "2" "186655232" "186655232" "subst" "3.0421E-5" "01943" "FSIP2_000035" "g.186655232C>T" "" "" "" "FSIP2(NM_173651.3):c.3369C>T (p.S1123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718339" "0" "30" "2" "186656460" "186656460" "subst" "0.000353251" "01943" "FSIP2_000004" "g.186656460T>A" "" "" "" "FSIP2(NM_173651.2):c.4864T>A (p.(Ser1622Thr)), FSIP2(NM_173651.3):c.4597T>A (p.S1533T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718340" "0" "30" "2" "186659971" "186659971" "subst" "7.60202E-6" "01943" "FSIP2_000036" "g.186659971A>G" "" "" "" "FSIP2(NM_173651.3):c.8108A>G (p.K2703R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800223" "0" "50" "2" "186666899" "186666899" "subst" "0.00010781" "01943" "FSIP2_000037" "g.186666899T>C" "" "" "" "FSIP2(NM_173651.3):c.12866T>C (p.V4289A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800224" "0" "30" "2" "186670923" "186670923" "subst" "0" "01943" "FSIP2_000038" "g.186670923C>T" "" "" "" "FSIP2(NM_173651.3):c.16890C>T (p.S5630=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800225" "0" "30" "2" "186673441" "186673441" "subst" "6.21231E-5" "01943" "FSIP2_000039" "g.186673441A>G" "" "" "" "FSIP2(NM_173651.3):c.19408A>G (p.I6470V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858214" "0" "30" "2" "186656868" "186656868" "subst" "0" "01943" "FSIP2_000040" "g.186656868G>A" "" "" "" "FSIP2(NM_173651.3):c.5005G>A (p.V1669I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858215" "0" "50" "2" "186658228" "186658228" "subst" "0" "01943" "FSIP2_000041" "g.186658228T>G" "" "" "" "FSIP2(NM_173651.3):c.6365T>G (p.I2122R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858216" "0" "50" "2" "186668702" "186668702" "subst" "0" "01943" "FSIP2_000042" "g.186668702T>C" "" "" "" "FSIP2(NM_173651.3):c.14669T>C (p.I4890T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000877213" "11" "90" "2" "186654198" "186654198" "del" "0" "00006" "FSIP2_000043" "g.186654198del" "" "{PMID:Fregeau 2016:27087320}" "" "" "" "Germline" "" "" "0" "" "" "g.185789471del" "" "VUS" "" "0000877214" "21" "70" "2" "186656179" "186656179" "subst" "0.00414535" "00006" "FSIP2_000044" "g.186656179C>G" "" "{PMID:Fregeau 2016:27087320}" "" "" "" "Germline" "" "rs192957612" "0" "" "" "" "" "VUS" "" "0000947645" "0" "50" "2" "186658455" "186658455" "subst" "0" "02327" "FSIP2_000045" "g.186658455T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947646" "0" "50" "2" "186668586" "186668586" "subst" "0" "02327" "FSIP2_000046" "g.186668586A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974802" "0" "50" "2" "186664780" "186664780" "subst" "1.53212E-5" "01804" "FSIP2_000047" "g.186664780G>A" "" "" "" "FSIP2(NM_173651.4):c.10747G>A (p.(Val3583Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974803" "0" "50" "2" "186666026" "186666026" "subst" "0.000456955" "01804" "FSIP2_000048" "g.186666026T>A" "" "" "" "FSIP2(NM_173651.4):c.11993T>A (p.(Ile3998Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992290" "0" "30" "2" "186658899" "186658899" "subst" "0.000151297" "01804" "FSIP2_000049" "g.186658899G>C" "" "" "" "FSIP2(NM_173651.2):c.7303G>C (p.(Ala2435Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024442" "0" "70" "2" "186666288" "186666288" "dup" "0" "02327" "FSIP2_000050" "g.186666288dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001032845" "0" "30" "2" "186620996" "186620996" "subst" "0.00160602" "01804" "FSIP2_000051" "g.186620996G>C" "" "" "" "FSIP2(NM_173651.4):c.1069G>C (p.(Glu357Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032846" "0" "50" "2" "186659105" "186659105" "del" "0" "01804" "FSIP2_000052" "g.186659105del" "" "" "" "FSIP2(NM_173651.4):c.7242del (p.(Glu2415Lysfs*8))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032847" "0" "30" "2" "186673805" "186673805" "subst" "0.00323675" "01804" "FSIP2_000053" "g.186673805C>T" "" "" "" "FSIP2(NM_173651.4):c.19772C>T (p.(Thr6591Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050988" "0" "30" "2" "186660561" "186660561" "subst" "" "01804" "chr2_024326" "g.186660561A>G" "" "" "" "FSIP2(NM_173651.4):c.8698A>G (p.(Lys2900Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050989" "0" "50" "2" "186668963" "186668963" "del" "" "01804" "chr2_024327" "g.186668963del" "" "" "" "FSIP2(NM_173651.4):c.14930del (p.(Val4977Glyfs*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 FSIP2 ## Count = 53 "{{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}}" "0000287967" "00008174" "30" "13693" "0" "13693" "0" "c.13693C>T" "r.(?)" "p.(Leu4565=)" "" "0000287968" "00008174" "50" "15163" "0" "15163" "0" "c.15163C>T" "r.(?)" "p.(His5055Tyr)" "" "0000287969" "00008174" "50" "4019" "0" "4019" "0" "c.4019G>T" "r.(?)" "p.(Ser1340Ile)" "" "0000328002" "00008174" "50" "4512" "0" "4512" "0" "c.4512C>A" "r.(?)" "p.(His1504Gln)" "" "0000328003" "00008174" "50" "4757" "0" "4759" "0" "c.4757_4759del" "r.(?)" "p.(Gly1586del)" "" "0000328004" "00008174" "50" "4864" "0" "4864" "0" "c.4864T>A" "r.(?)" "p.(Ser1622Thr)" "" "0000328005" "00008174" "50" "7429" "0" "7431" "0" "c.7429_7431del" "r.(?)" "p.(Ile2477del)" "" "0000328006" "00008174" "50" "8880" "0" "8880" "0" "c.8880A>G" "r.(?)" "p.(Ile2960Met)" "" "0000328007" "00008174" "50" "12961" "0" "12961" "0" "c.12961C>T" "r.(?)" "p.(Gln4321Ter)" "" "0000328008" "00008174" "50" "14667" "0" "14667" "0" "c.14667G>T" "r.(?)" "p.(Gln4889His)" "" "0000328009" "00008174" "50" "14879" "0" "14879" "0" "c.14879T>G" "r.(?)" "p.(Leu4960Arg)" "" "0000328010" "00008174" "50" "15242" "0" "15242" "0" "c.15242T>C" "r.(?)" "p.(Ile5081Thr)" "" "0000328011" "00008174" "50" "15485" "0" "15485" "0" "c.15485T>C" "r.(?)" "p.(Leu5162Ser)" "" "0000328012" "00008174" "50" "19862" "0" "19862" "0" "c.19862T>C" "r.(?)" "p.(Ile6621Thr)" "" "0000458748" "00008174" "90" "2549" "0" "2549" "0" "c.2549dup" "r.(?)" "p.(Asn850Lysfs*4)" "" "0000458749" "00008174" "90" "1177" "0" "1177" "0" "c.1177del" "r.(?)" "p.(Gln393Lysfs*13)" "" "0000458750" "00008174" "90" "1177" "0" "1177" "0" "c.1177del" "r.(?)" "p.(Gln393Lysfs*13)" "" "0000458751" "00008174" "90" "1874" "0" "1883" "0" "c.1874_1883delinsTGT" "r.(?)" "p.(Lys625Metfs*2)" "" "0000458752" "00008174" "90" "16660" "0" "16663" "0" "c.16660_16663del" "r.(?)" "p.(Asn5554Glufs*4)" "" "0000458753" "00008174" "90" "8270" "0" "8270" "0" "c.8270C>A" "r.(?)" "p.(Ser2757*)" "" "0000458754" "00008174" "90" "3519" "0" "3519" "0" "c.3519del" "r.(?)" "p.(Lys1173Asnfs*19)" "" "0000513647" "00008174" "30" "1649" "0" "1649" "0" "c.1649C>A" "r.(?)" "p.(Thr550Asn)" "" "0000513648" "00008174" "50" "5551" "0" "5551" "0" "c.5551T>G" "r.(?)" "p.(Leu1851Val)" "" "0000513649" "00008174" "30" "7103" "0" "7103" "0" "c.7103G>A" "r.(?)" "p.(Ser2368Asn)" "" "0000513650" "00008174" "30" "9938" "0" "9938" "0" "c.9938C>T" "r.(?)" "p.(Thr3313Met)" "" "0000513653" "00008174" "50" "19022" "0" "19022" "0" "c.19022T>C" "r.(?)" "p.(Ile6341Thr)" "" "0000513655" "00008174" "50" "20402" "0" "20402" "0" "c.20402T>G" "r.(?)" "p.(Phe6801Cys)" "" "0000607339" "00008174" "50" "925" "0" "925" "0" "c.925C>T" "r.(?)" "p.(Arg309Cys)" "" "0000607340" "00008174" "30" "11851" "0" "11851" "0" "c.11851G>T" "r.(?)" "p.(Ala3951Ser)" "" "0000607341" "00008174" "50" "18370" "0" "18370" "0" "c.18370G>A" "r.(?)" "p.(Glu6124Lys)" "" "0000688580" "00008174" "50" "1182" "0" "1182" "0" "c.1182A>C" "r.(?)" "p.(Lys394Asn)" "" "0000688581" "00008174" "30" "3636" "0" "3636" "0" "c.3636C>T" "r.(?)" "p.(Ser1212=)" "" "0000718339" "00008174" "30" "4864" "0" "4864" "0" "c.4864T>A" "r.(?)" "p.(Ser1622Thr)" "" "0000718340" "00008174" "30" "8375" "0" "8375" "0" "c.8375A>G" "r.(?)" "p.(Lys2792Arg)" "" "0000800223" "00008174" "50" "13133" "0" "13133" "0" "c.13133T>C" "r.(?)" "p.(Val4378Ala)" "" "0000800224" "00008174" "30" "17157" "0" "17157" "0" "c.17157C>T" "r.(?)" "p.(Ser5719=)" "" "0000800225" "00008174" "30" "19675" "0" "19675" "0" "c.19675A>G" "r.(?)" "p.(Ile6559Val)" "" "0000858214" "00008174" "30" "5272" "0" "5272" "0" "c.5272G>A" "r.(?)" "p.(Val1758Ile)" "" "0000858215" "00008174" "50" "6632" "0" "6632" "0" "c.6632T>G" "r.(?)" "p.(Ile2211Arg)" "" "0000858216" "00008174" "50" "14936" "0" "14936" "0" "c.14936T>C" "r.(?)" "p.(Ile4979Thr)" "" "0000877213" "00008174" "90" "2602" "0" "2602" "0" "c.2602del" "r.(?)" "p.(Ser868Hisfs*12)" "" "0000877214" "00008174" "70" "4583" "0" "4583" "0" "c.4583C>G" "r.(?)" "p.(Thr1528Arg)" "" "0000947645" "00008174" "50" "6859" "0" "6859" "0" "c.6859T>A" "r.(?)" "p.(Cys2287Ser)" "" "0000947646" "00008174" "50" "14820" "0" "14820" "0" "c.14820A>C" "r.(?)" "p.(Lys4940Asn)" "" "0000974802" "00008174" "50" "11014" "0" "11014" "0" "c.11014G>A" "r.(?)" "p.(Val3672Ile)" "" "0000974803" "00008174" "50" "12260" "0" "12260" "0" "c.12260T>A" "r.(?)" "p.(Ile4087Asn)" "" "0000992290" "00008174" "30" "7303" "0" "7303" "0" "c.7303G>C" "r.(?)" "p.(Ala2435Pro)" "" "0001024442" "00008174" "70" "12522" "0" "12522" "0" "c.12522dup" "r.(?)" "p.(Glu4175Argfs*26)" "" "0001032845" "00008174" "30" "1336" "0" "1336" "0" "c.1336G>C" "r.(?)" "p.(Glu446Gln)" "" "0001032846" "00008174" "50" "7509" "0" "7509" "0" "c.7509del" "r.(?)" "p.(Glu2504Lysfs*8)" "" "0001032847" "00008174" "30" "20039" "0" "20039" "0" "c.20039C>T" "r.(?)" "p.(Thr6680Ile)" "" "0001050988" "00008174" "30" "8965" "0" "8965" "0" "c.8965A>G" "r.(?)" "p.(Lys2989Glu)" "" "0001050989" "00008174" "50" "15197" "0" "15197" "0" "c.15197del" "r.(?)" "p.(Val5066Glyfs*3)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000226500" "0000458748" "0000226501" "0000458749" "0000226502" "0000458751" "0000226503" "0000458752" "0000226504" "0000458750" "0000226505" "0000458753" "0000226506" "0000458754" "0000417517" "0000877213" "0000417517" "0000877214"