### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SF1) # 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}}" "SF1" "splicing factor 1" "11" "q13" "unknown" "NC_000011.9" "UD_132118631360" "" "https://www.LOVD.nl/SF1" "" "1" "12950" "7536" "601516" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-10-29 09:42:08" "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}}" "00018762" "SF1" "transcript variant 1" "005" "NM_004630.3" "" "NP_004621.2" "" "" "" "-452" "3134" "1920" "64546316" "64532076" "" "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}}" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "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}}" "SF1" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{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}}" "00407356" "" "" "" "1" "" "00000" "{PMID:Borràs 2013:23534816}" "" "" "" "Spain" "" "0" "" "" "Spanish" "RP-95" "00466068" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00467729" "" "" "" "1" "" "00006" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "Pat1" "00467730" "" "" "" "1" "" "00006" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat2" "00467731" "" "" "" "1" "" "00006" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat3" "00467732" "" "" "" "1" "" "00006" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat4" "00467733" "" "" "" "1" "" "00006" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Pat5" "00467734" "" "" "" "1" "" "00006" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat6" "00467735" "" "" "" "1" "" "00006" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat7" "00467736" "" "" "" "1" "" "00006" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat8" "00467737" "" "" "" "1" "" "00006" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat9" "00467738" "" "" "" "1" "" "00006" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat10" "00467739" "" "" "" "1" "" "00006" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat11" "00467740" "" "" "" "1" "" "00006" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat12" "00467741" "" "" "" "1" "" "00006" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat13" "00467742" "" "" "" "1" "" "00006" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "2-generation family, 1 affected, unaffected non-carrier mother" "M" "" "" "" "0" "" "" "" "Pat14" "00467743" "" "" "" "1" "" "00006" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat15" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 17 "{{individualid}}" "{{diseaseid}}" "00407356" "04214" "00466068" "05611" "00467729" "05611" "00467730" "05611" "00467731" "05611" "00467732" "05611" "00467733" "05611" "00467734" "05611" "00467735" "05611" "00467736" "05611" "00467737" "05611" "00467738" "05611" "00467739" "05611" "00467740" "05611" "00467741" "05611" "00467742" "05611" "00467743" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04214, 05611 ## Count = 17 "{{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}}" "0000299710" "04214" "00407356" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "severe autosomal dominant retinitis pigmentosa (adRP)" "0000351454" "05611" "00466068" "03544" "Familial, autosomal dominant" "" "HP:0000098, HP:0000483, HP:0000486, HP:0000540, HP:0001256, HP:0001999, HP:0002474, HP:0002808, HP:0100710" "" "" "" "" "" "" "" "SF1-related NDD" "complex NDD" "0000352881" "05611" "00467729" "00006" "Unknown" "2y" "see paper; ..., mild developmental delay; 13m-walk; 2y-first words; speech few words; no autism spectrum disorder; hyperphagia, hypersomnia; 16m-1 seizure; bitemporal constriction, large eyebrows, epicanthus bilateral, facial hypertrichosis; normal extremities; postnatal growth retardation, 2y-growth curve inflection; constipation and diarrhea" "" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352882" "05611" "00467730" "00006" "Isolated (sporadic)" "8y" "see paper; ..., mild intellectual developmental disorder; 18m-walk; 2.5y-first words; speaks with full sentences with lisp, ask questions, understanding difficulties; no autism spectrum disorder; autistic features in earlychildhood, evolving towards a normalization; no seizures; MRI brain plagiocephaly; plagiocephaly, earlobes upward facing, epicanthic folds, hypertelorism, dental malposition, inverted nipples; short fifht fingers, long toes and short fifht toe nails; postnatal growth retardation; scalp cutis aplasia congenita, cutis marmorata and facial telengiectasia, malposition of permanent teeth" "" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352883" "05611" "00467731" "00006" "Isolated (sporadic)" "4y" "see paper; ..., moderate developmental delay; 14m-walk; 4y-first words; speech few words, use of pictograms for 50 words; autism spectrum disorder; phobia of fans, poor eye contact; no seizures; high forehead, ogival palate and one cafe-au-lait spot; normal extremities; no postnatal growth retardation; structural enamel defects on all temporary second molars, requiring tooth extraction" "" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352884" "05611" "00467732" "00006" "Isolated (sporadic)" "8y" "see paper; ..., learning difficulties; 18m-walk; 18m-first words; limited language; autism spectrum disorder; no seizures; hypertelorism, thin upper lip; normal extremities; no postnatal growth retardation; lower limbs cutis marmorata, dental crowding " "" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352885" "05611" "00467733" "00006" "Unknown" "13y" "see paper; ..., moderate intellectual developmental disorder; 26m-walk; 3y-first words; limited expressive language; autism spectrum disorder; no seizures; prominent ears surgically pinned, strawberry birthmarks to face and neck and inverted nipple; large hands; postnatal growth retardation, GH-therapy; polyhydramnios during pregnancy, undescended small testes, obesity, insensitivity to pain " "" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352886" "05611" "00467734" "00006" "Isolated (sporadic)" "15y" "see paper; ..., langage delay, intellectual developmental disorder; 12m-walk; 2y-first words; speech fluently with articulation difficulties; autism spectrum disorder; seizures; right epicanthal fold, long face and posteriorly rotated ears; short toes with hypoplastic nails; no postnatal growth retardation; strabismus" "" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352887" "05611" "00467735" "00006" "Isolated (sporadic)" "5y" "see paper; ..., mild developmental delay; 17m-walk; after 2y-first words; speech 20-30 words, expressive and receptive speech delay, non-verbal cognitive development within lower normal range; no autism spectrum disorder; sometimes stubborn, still not toilet trained; no seizures; sparse scalp hair, broad forehead, triangular face, epicanthus, sparse eyebrows, widly spaced eyes, short nasal bridge, broad nasal tip, midface retrusion, deep and short philtrum, teneted upper vermilion, retrognathia, low-set ears, pectus excavatum; broad distal phalange, broad foot, sandal gap; postnatal growth retardation, 2y delayed bone age; atrial septum defect, strabismus, hyperopia" "" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352888" "05611" "00467736" "00006" "Isolated (sporadic)" "8y" "see paper; ..., global developmental delay; 12m-walk; 12-15m-first words regression; na; autism spectrum disorder; attention-deficit/hyperactivity disorder, spleep disturbance; no seizures; MRI brain normal; tall forehead with a high anterior hairline and deep set eyes; normal extremities; no postnatal growth retardation; conductive hearing loss, bilateral lamellar cataract, bifid uvula, cervicobrachial dystonia causing tremor, undescended left testis" "" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352889" "05611" "00467737" "00006" "Isolated (sporadic)" "13y" "see paper; ..., mild intellectual developmental disorder; 36m-walk; 4y-first words; severe phonological speech disorder, prononciation problems, receptives language skills better than expressive; autism spectrum disorder; no seizures; synophyrs, metopic prominence, low set ears, cupped ears, prominent ear lobes, wide spaced teeth, inverted nipples, pes planus, broad feet, shawl scrotum; unilateral transverse palmar crease; postnatal growth retardation; polyhydramnios during pregnancy, preterm delivery, metopic synostosis" "" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352890" "05611" "00467738" "00006" "Isolated (sporadic)" "11y" "see paper; ..., moderate intellectual developmental disorder; 16m-walk; 3y-first words; bisyllabism; autism spectrum disorder; limited interaction by interest; no seizures; MRI brain normal; triangular face, anteverted nares, detached ears; short fingers and toes with hypoplastic nails; postnatal growth retardation, 5y-GH-therapy; severe feeding difficulties, gastrostomy placed at 30 mo, surgical closure of atrial septum defect, mild refractive error" "" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352891" "05611" "00467739" "00006" "Isolated (sporadic)" "4y" "see paper; ..., mild intellectual developmental disorder; 24m-walk; 3y-first words; speech words associations; no autism spectrum disorder; nocturnal awakenings; no seizures; long face, broad forehead, arched eyebrows, tented philtrum, exaggerated cupid\'s bow; brachydactyly, hypoplastic fingernails and toenails; no postnatal growth retardation; distal hyperlaxity, strabismus, oligodontia of primary teeth (upper lateral incisors)" "" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352892" "05611" "00467740" "00006" "Isolated (sporadic)" "6y" "see paper; ..., language delay, global low cognitive function without intellectual developmental disorder; 18m-walk; speech delay, 3y-regression of acquisition, improvement, now fluent; no autism spectrum disorder; normal behavior; no seizures; MRI brain left frontal peri-natal ischemic sequels; ears posteriorly rotated, tip of the nose arched, nostrils very anteverted, small mouth; fetal padds; no postnatal growth retardation; generalized hyperlaxity, scoliosis " "" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352893" "05611" "00467741" "00006" "Isolated (sporadic)" "3y" "see paper; ..., langage delay; <18m-walk; 2y-first words; speech few words; no autism spectrum disorder; normal behavior; no seizures; MRI brain pineal cyst, white matter hypersignals; enophtalmia, prognathism; hypoplastic toenails; no postnatal growth retardation; feeding difficulties during infancy" "" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352894" "05611" "00467742" "00006" "Unknown" "22y" "see paper; ..., moderate intellectual developmental disorder; 12m-walk; 9y-first words; speech sentences; autism spectrum disorder; attention-deficit/hyperactivity disorder, prior violent behavior; no seizures; narrow ears, mild synorphrys; normal extremities; no postnatal growth retardation; obesity during chilhood" "" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352895" "05611" "00467743" "00006" "Isolated (sporadic)" "11y" "see paper; ..., mild developmental delay (IQ86, verbal comprehension index 75); 14m-walk; 1y-first words; speech severe articulation problems up to 3y, speaks in short sentences; autism spectrum disorder; attention-deficit/hyperactivity disorder; 5y-onset focal seizures, EEG continuous spike, wave during slow wave sleep; MRI brain hypoplastic corpus callosum and incomplete inversion of the left hippocampus. Hemisfere asymetry (left smaller).; triangular face, anteverted nares, pointy chin, cubid bow lip, frontal bossing; short hands and tapering fingers; no postnatal growth retardation; 1y-unilateral exotropia (2y-surgery)" "" "" "" "" "" "" "" "" "hearing loss" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000408604" "00407356" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000467723" "00466068" "1" "03544" "03544" "2025-07-24 10:36:03" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000469395" "00467729" "1" "00006" "00006" "2025-10-29 10:02:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469396" "00467730" "1" "00006" "00006" "2025-10-29 10:02:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469397" "00467731" "1" "00006" "00006" "2025-10-29 10:02:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469398" "00467732" "1" "00006" "00006" "2025-10-29 10:02:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469399" "00467733" "1" "00006" "00006" "2025-10-29 10:02:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469400" "00467734" "1" "00006" "00006" "2025-10-29 10:02:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469401" "00467735" "1" "00006" "00006" "2025-10-29 10:02:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469402" "00467736" "1" "00006" "00006" "2025-10-29 10:02:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469403" "00467737" "1" "00006" "00006" "2025-10-29 10:02:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469404" "00467738" "1" "00006" "00006" "2025-10-29 10:02:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469405" "00467739" "1" "00006" "00006" "2025-10-29 10:02:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469406" "00467740" "1" "00006" "00006" "2025-10-29 10:02:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469407" "00467741" "1" "00006" "00006" "2025-10-29 10:02:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469408" "00467742" "1" "00006" "00006" "2025-10-29 10:02:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469409" "00467743" "1" "00006" "00006" "2025-10-29 10:02:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000408604" "SLC1A7" ## 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 = 35 "{{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}}" "0000301327" "0" "90" "11" "64527370" "64527370" "subst" "1.62648E-5" "02326" "PYGM_000013" "g.64527370T>C" "" "" "" "PYGM(NM_001164716.1):c.1A>G (p.M1?), PYGM(NM_005609.4):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64759898T>C" "" "pathogenic" "" "0000322292" "0" "50" "11" "64533620" "64533620" "subst" "0" "01804" "SF1_000001" "g.64533620C>T" "" "" "" "SF1(NM_001178030.1):c.1958-630G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64766148C>T" "" "VUS" "" "0000613536" "0" "30" "11" "64533431" "64533431" "subst" "4.47873E-5" "01943" "SF1_000004" "g.64533431G>A" "" "" "" "SF1(NM_004630.3):c.1779C>T (p.A593=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64765959G>A" "" "likely benign" "" "0000613537" "0" "50" "11" "64534542" "64534542" "subst" "1.31675E-5" "02325" "SF1_000005" "g.64534542G>A" "" "" "" "SF1(NM_004630.4):c.1412C>T (p.P471L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64767070G>A" "" "VUS" "" "0000613538" "0" "30" "11" "64545490" "64545490" "subst" "0" "01943" "SF1_000006" "g.64545490G>A" "" "" "" "SF1(NM_001178030.1):c.375C>T (p.D125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64778018G>A" "" "likely benign" "" "0000656837" "0" "90" "11" "64527223" "64527223" "subst" "0.00140518" "02325" "PYGM_000002" "g.64527223G>A" "" "" "" "PYGM(NM_001164716.1):c.148C>T (p.R50*), PYGM(NM_005609.4):c.148C>T (p.R50*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64759751G>A" "" "pathogenic" "" "0000691120" "0" "30" "11" "64532875" "64532875" "subst" "0" "01943" "SF1_000007" "g.64532875C>T" "" "" "" "SF1(NM_201995.2):c.1903G>A (p.G635S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723570" "0" "90" "11" "64527223" "64527223" "subst" "0.00140518" "01943" "PYGM_000002" "g.64527223G>A" "" "" "" "PYGM(NM_001164716.1):c.148C>T (p.R50*), PYGM(NM_005609.4):c.148C>T (p.R50*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723571" "0" "90" "11" "64527223" "64527223" "subst" "0.00140518" "02329" "PYGM_000002" "g.64527223G>A" "" "" "" "PYGM(NM_001164716.1):c.148C>T (p.R50*), PYGM(NM_005609.4):c.148C>T (p.R50*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723572" "0" "90" "11" "64527370" "64527370" "subst" "1.62648E-5" "02329" "PYGM_000013" "g.64527370T>C" "" "" "" "PYGM(NM_001164716.1):c.1A>G (p.M1?), PYGM(NM_005609.4):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000845527" "0" "50" "11" "64535748" "64535748" "subst" "0" "00000" "SF1_000008" "g.64535748G>A" "Novel" "{PMID:Borràs 2013:23534816}" "" "c.898C>T" "" "Germline" "no" "" "0" "" "" "" "" "VUS" "" "0000853076" "0" "30" "11" "64534518" "64534520" "del" "0" "02325" "SF1_000009" "g.64534518_64534520del" "" "" "" "SF1(NM_004630.3):c.1449_1451delGCC (p.(Pro484del)), SF1(NM_201995.3):c.1449_1451delGCC (p.P485del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862626" "0" "50" "11" "64545560" "64545560" "subst" "0" "01943" "SF1_000010" "g.64545560G>A" "" "" "" "SF1(NM_001178030.1):c.305C>T (p.P102L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890050" "0" "50" "11" "64537827" "64537827" "subst" "0" "02325" "SF1_000011" "g.64537827C>T" "" "" "" "SF1(NM_201995.3):c.290G>A (p.R97Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999245" "0" "50" "11" "64534418" "64534418" "subst" "5.03259E-5" "01804" "SF1_000013" "g.64534418C>T" "" "" "" "SF1(NM_201997.2):c.1540G>A (p.(Ala514Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999246" "0" "50" "11" "64534518" "64534520" "del" "0" "01804" "SF1_000009" "g.64534518_64534520del" "" "" "" "SF1(NM_004630.3):c.1449_1451delGCC (p.(Pro484del)), SF1(NM_201995.3):c.1449_1451delGCC (p.P485del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999247" "0" "50" "11" "64545823" "64545823" "dup" "0" "01804" "SF1_000014" "g.64545823dup" "" "" "" "SF1(NM_001178030.1):c.48dupC (p.(Gly17fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047010" "21" "70" "11" "64533437" "64533449" "del" "0" "03544" "SF1_000015" "g.64533437_64533449del" "" "https://ern-ithaca.eu/our-research-activities/calls-for-collaboration/sf1-variants-in-neurodevelopmental-disorders/" "" "" "inherited from mildly affected mother, variant present in mildly affected sister" "Germline" "yes" "" "0" "" "" "g.64765965_64765977del" "{CV:4083510}" "likely pathogenic" "ACMG" "0001049687" "0" "50" "11" "64545823" "64545823" "del" "0" "00006" "SF1_000016" "g.64545823del" "" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "" "NM_001178030.2:c.48del (Leu18Cysfs*42)" "ACMG PM2, BP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.64778351del" "" "VUS" "ACMG" "0001049688" "0" "70" "11" "64544066" "64544066" "dup" "0" "00006" "SF1_000031" "g.64544066dup" "" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "" "" "ACMG PVS1, PM2" "De novo" "" "" "0" "" "" "g.64776594dup" "" "likely pathogenic (dominant)" "ACMG" "0001049689" "0" "90" "11" "64540922" "64540922" "del" "0" "00006" "SF1_000030" "g.64540922del" "" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "" "" "ACMG PVS1, PM2, PP5" "De novo" "" "" "0" "" "" "g.64773450del" "" "pathogenic (dominant)" "ACMG" "0001049690" "0" "70" "11" "64537839" "64537839" "subst" "0" "00006" "SF1_000029" "g.64537839C>T" "" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "" "" "ACMG PP3, PM2, PP2" "De novo" "" "" "0" "" "" "g.64770367C>T" "" "likely pathogenic (dominant)" "ACMG" "0001049691" "0" "70" "11" "64537820" "64537820" "del" "0" "00006" "SF1_000028" "g.64537820del" "" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "" "" "ACMG PVS1, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.64770348del" "" "likely pathogenic (dominant)" "ACMG" "0001049692" "0" "50" "11" "64537755" "64537755" "subst" "0" "00006" "SF1_000027" "g.64537755G>A" "" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "" "" "ACMGPM2, PP2, PP3" "De novo" "" "" "0" "" "" "g.64770283G>A" "" "VUS" "ACMG" "0001049693" "0" "70" "11" "64537029" "64537029" "subst" "0" "00006" "SF1_000026" "g.64537029G>A" "" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "" "" "ACMG PP3, PM2, PP2" "De novo" "" "" "0" "" "" "g.64769557G>A" "" "likely pathogenic (dominant)" "ACMG" "0001049694" "0" "70" "11" "64537011" "64537011" "del" "0" "00006" "SF1_000025" "g.64537011del" "" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "" "" "ACMG PVS1, PM2" "De novo" "" "" "0" "" "" "g.64769539del" "" "likely pathogenic (dominant)" "ACMG" "0001049695" "0" "70" "11" "64536950" "64536950" "subst" "0" "00006" "SF1_000024" "g.64536950T>C" "" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "" "" "ACMG PP3, PM2, PP2" "De novo" "" "" "0" "" "" "g.64769478T>C" "" "likely pathogenic (dominant)" "ACMG" "0001049696" "0" "70" "11" "64536537" "64536537" "subst" "0" "00006" "SF1_000023" "g.64536537A>G" "" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "" "" "ACMG PP3, PM2, PP2" "De novo" "" "" "0" "" "" "g.64769065A>G" "" "likely pathogenic (dominant)" "ACMG" "0001049697" "0" "70" "11" "64535687" "64535687" "subst" "0" "00006" "SF1_000022" "g.64535687A>G" "" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "" "" "ACMG PP3, PM2, PP2" "De novo" "" "" "0" "" "" "g.64768215A>G" "" "likely pathogenic (dominant)" "ACMG" "0001049698" "0" "50" "11" "64535123" "64535123" "subst" "0" "00006" "SF1_000021" "g.64535123G>T" "" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "" "" "ACMG PM2, PP2, BP4" "De novo" "" "" "0" "" "" "g.64767651G>T" "" "VUS" "ACMG" "0001049699" "0" "70" "11" "64534432" "64534432" "dup" "0" "00006" "SF1_000020" "g.64534432dup" "" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "" "" "ACMG PVS1, PM2" "De novo" "" "" "0" "" "" "g.64766960dup" "" "likely pathogenic (dominant)" "ACMG" "0001049700" "0" "70" "11" "64533571" "64533571" "subst" "0" "00006" "SF1_000019" "g.64533571G>A" "" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "" "" "ACMG PVS1, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.64766099G>A" "" "likely pathogenic (dominant)" "ACMG" "0001049701" "0" "50" "11" "64533443" "64533446" "delins" "0" "00006" "SF1_000018" "g.64533443_64533446delinsA" "" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "" "" "ACMG PM4, PM2" "De novo" "" "" "0" "" "" "g.64765971_64765974delinsA" "" "VUS" "ACMG" "0001053919" "0" "50" "11" "64527211" "64527211" "subst" "0.000304554" "01804" "SF1_000017" "g.64527211A>C" "" "" "" "PYGM(NM_005609.4):c.160T>G (p.(Phe54Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053920" "0" "70" "11" "64527370" "64527370" "subst" "1.62648E-5" "02327" "PYGM_000013" "g.64527370T>C" "" "" "" "PYGM(NM_001164716.1):c.1A>G (p.M1?), PYGM(NM_005609.4):c.1A>G (p.M1?)" "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 SF1 ## Count = 35 "{{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}}" "0000301327" "00018762" "90" "7840" "0" "7840" "0" "c.*5920A>G" "r.(=)" "p.(=)" "" "0000322292" "00018762" "50" "1590" "0" "1590" "0" "c.1590G>A" "r.(?)" "p.(Thr530=)" "" "0000613536" "00018762" "30" "1779" "0" "1779" "0" "c.1779C>T" "r.(?)" "p.(Ala593=)" "" "0000613537" "00018762" "50" "1412" "0" "1412" "0" "c.1412C>T" "r.(?)" "p.(Pro471Leu)" "" "0000613538" "00018762" "30" "31" "344" "31" "344" "c.31+344C>T" "r.(=)" "p.(=)" "" "0000656837" "00018762" "90" "7987" "0" "7987" "0" "c.*6067C>T" "r.(=)" "p.(=)" "" "0000691120" "00018762" "30" "2335" "0" "2335" "0" "c.*415G>A" "r.(=)" "p.(=)" "" "0000723570" "00018762" "90" "7987" "0" "7987" "0" "c.*6067C>T" "r.(=)" "p.(=)" "" "0000723571" "00018762" "90" "7987" "0" "7987" "0" "c.*6067C>T" "r.(=)" "p.(=)" "" "0000723572" "00018762" "90" "7840" "0" "7840" "0" "c.*5920A>G" "r.(=)" "p.(=)" "" "0000845527" "00018762" "50" "898" "0" "898" "0" "c.898C>T" "r.(?)" "p.(Pro300Ser)" "9" "0000853076" "00018762" "30" "1449" "0" "1451" "0" "c.1449_1451del" "r.(?)" "p.(Pro485del)" "" "0000862626" "00018762" "50" "31" "274" "31" "274" "c.31+274C>T" "r.(=)" "p.(=)" "" "0000890050" "00018762" "50" "290" "0" "290" "0" "c.290G>A" "r.(?)" "p.(Arg97Gln)" "" "0000999245" "00018762" "50" "1536" "0" "1536" "0" "c.1536G>A" "r.(?)" "p.(=)" "" "0000999246" "00018762" "50" "1449" "0" "1451" "0" "c.1449_1451del" "r.(?)" "p.(Pro485del)" "" "0000999247" "00018762" "50" "31" "17" "31" "17" "c.31+17dup" "r.(=)" "p.(=)" "" "0001047010" "00018762" "70" "1764" "0" "1776" "0" "c.1764_1776del" "r.(?)" "p.(Pro590Alafs*2)" "13" "0001049687" "00018762" "50" "31" "17" "31" "17" "c.31+17del" "r.spl?" "p.?" "" "0001049688" "00018762" "70" "64" "0" "64" "0" "c.64dup" "r.(?)" "p.(Trp22LeufsTer43)" "" "0001049689" "00018762" "90" "221" "0" "221" "0" "c.221del" "r.(?)" "p.(Pro74LeufsTer63)" "" "0001049690" "00018762" "70" "278" "0" "278" "0" "c.278G>A" "r.(?)" "p.(Arg93Gln)" "" "0001049691" "00018762" "70" "298" "0" "298" "0" "c.298del" "r.(?)" "p.(Arg100AlafsTer37)" "" "0001049692" "00018762" "50" "362" "0" "362" "0" "c.362C>T" "r.(?)" "p.(Pro121Leu)" "" "0001049693" "00018762" "70" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Arg178Trp)" "" "0001049694" "00018762" "70" "552" "0" "552" "0" "c.552del" "r.(?)" "p.(Glu185LysfsTer38)" "" "0001049695" "00018762" "70" "611" "0" "611" "0" "c.611A>G" "r.(?)" "p.(His204Arg)" "" "0001049696" "00018762" "70" "844" "0" "844" "0" "c.844T>C" "r.(?)" "p.(Cys282Arg)" "" "0001049697" "00018762" "70" "959" "0" "959" "0" "c.959T>C" "r.(?)" "p.(Leu320Pro)" "" "0001049698" "00018762" "50" "1262" "0" "1262" "0" "c.1262C>A" "r.(?)" "p.(Pro421Gln)" "" "0001049699" "00018762" "70" "1523" "0" "1523" "0" "c.1523dup" "r.(?)" "p.(Pro509AlafsTer103)" "" "0001049700" "00018762" "70" "1639" "0" "1639" "0" "c.1639C>T" "r.(?)" "p.(Gln547Ter)" "" "0001049701" "00018762" "50" "1764" "0" "1767" "0" "c.1764_1767delinsT" "r.(?)" "p.(Pro590del)" "" "0001053919" "00018762" "50" "7999" "0" "7999" "0" "c.*6079T>G" "r.(=)" "p.(=)" "" "0001053920" "00018762" "70" "7840" "0" "7840" "0" "c.*5920A>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000408604" "0000845527" "0000467723" "0001047010" "0000469395" "0001049687" "0000469396" "0001049688" "0000469397" "0001049689" "0000469398" "0001049690" "0000469399" "0001049691" "0000469400" "0001049692" "0000469401" "0001049693" "0000469402" "0001049694" "0000469403" "0001049695" "0000469404" "0001049696" "0000469405" "0001049697" "0000469406" "0001049698" "0000469407" "0001049699" "0000469408" "0001049700" "0000469409" "0001049701"