### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MYLPF) # 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}}" "MYLPF" "myosin light chain, phosphorylatable, fast skeletal muscle" "16" "p11.2" "unknown" "NG_050592.1" "UD_132463012019" "" "https://www.LOVD.nl/MYLPF" "" "1" "29824" "29895" "0" "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/MYLPF_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-07-27 19:55:59" "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}}" "00014166" "MYLPF" "myosin light chain, phosphorylatable, fast skeletal muscle" "001" "NM_013292.3" "" "NP_037424.2" "" "" "" "-56" "599" "510" "30386123" "30389310" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00385" "DA" "arthrogryposis, distal (DA)" "" "" "" "" "" "00006" "2014-05-27 12:44:13" "00006" "2015-12-08 23:59:30" "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 = 1 "{{geneid}}" "{{diseaseid}}" "MYLPF" "00385" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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}}" "00050683" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00307011" "" "" "" "1" "" "00006" "{PMID:Chong 2020:3270708}" "7-generation family, affected brother/sister" "M" "yes" "Poland" "" "0" "" "" "" "FamAPatVI1" "00307012" "" "" "" "1" "" "00006" "{PMID:Chong 2020:3270708}" "sister" "F" "yes" "Poland" "" "0" "" "" "" "FamAPatVI2" "00307013" "" "" "" "1" "" "00006" "{PMID:Chong 2020:3270708}" "2-generation family, 1 affected, unaffected parents" "M" "yes" "India" "" "0" "" "" "" "FamBPatII1" "00307014" "" "" "" "1" "" "00006" "{PMID:Chong 2020:3270708}" "2-generation family, 1 affected, unaffected parents" "F" "yes" "Pakistan" "" "0" "" "" "" "FamCPatII1" "00307015" "" "" "" "1" "" "00006" "{PMID:Chong 2020:3270708}" "4-generation family, 1 affected, unaffected parents" "F" "yes" "Pakistan" "" "0" "" "" "" "FamDPatIV2" "00307016" "" "" "" "1" "" "00006" "{PMID:Chong 2020:3270708}" "2-generation family, 1 affected, unaffected parents" "M" "yes" "Pakistan" "" "0" "" "" "" "FamEPatII1" "00307017" "" "" "" "1" "" "00006" "{PMID:Chong 2020:3270708}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "" "yes" "India" "" "0" "" "" "" "FamFPatIV8" "00307018" "" "" "" "1" "" "00006" "{PMID:Chong 2020:3270708}" "sister" "F" "yes" "India" "" "0" "" "" "" "FamFPatIV10" "00307019" "" "" "" "1" "" "00006" "{PMID:Chong 2020:3270708}" "fetus" "F" "yes" "India" "" "0" "" "" "" "FamFPatIII2" "00307020" "" "" "" "1" "" "00006" "{PMID:Chong 2020:3270708}" "fetus" "F" "yes" "India" "" "0" "" "" "" "FamFPatIII3" "00307021" "" "" "" "2" "" "00006" "{PMID:Chong 2020:3270708}" "3-generation family, affected father/son, unaffacted non-carrier grandparents" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "FamGPatII1" "00307022" "" "" "00307021" "1" "" "00006" "{PMID:Chong 2020:3270708}" "son" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "FamGPatIII1" "00307023" "" "" "" "6" "" "00006" "{PMID:Chong 2020:3270708}" "4-generation family, 6 affected (5F, M)" "F" "" "France" "" "0" "" "" "" "FamHPatIV3" "00307024" "" "" "00307023" "1" "" "00006" "{PMID:Chong 2020:3270708}" "" "F" "" "France" "" "0" "" "" "" "FamHPatIII6" "00307025" "" "" "00307023" "1" "" "00006" "{PMID:Chong 2020:3270708}" "" "F" "" "France" "" "0" "" "" "" "FamHPatII7" "00307026" "" "" "00307023" "1" "" "00006" "{PMID:Chong 2020:3270708}" "" "F" "" "France" "" "0" "" "" "" "FamHPatIII2" "00307027" "" "" "00307023" "1" "" "00006" "{PMID:Chong 2020:3270708}" "" "M" "" "France" "" "0" "" "" "" "FamHPatIV1" "00390025" "" "" "" "1" "" "00000" "{PMID:Ruberto 2020:32507954}" "" "?" "" "Italy" "" "0" "" "" "" "3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00050683" "00198" "00307011" "00385" "00307012" "00385" "00307013" "00385" "00307014" "00385" "00307015" "00385" "00307016" "00385" "00307017" "00385" "00307018" "00385" "00307019" "00385" "00307020" "00385" "00307021" "00385" "00307022" "00385" "00307023" "00385" "00307024" "00385" "00307025" "00385" "00307026" "00385" "00307027" "00385" "00390025" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00385, 04214 ## Count = 19 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037295" "00198" "00050683" "00006" "Unknown" "" "microcephaly, abnormality of the outer ear, prominent metopic ridge, narrow mouth, inferior vermis hypoplasia, delayed speech and language development" "" "" "" "" "" "" "" "" "" "" "" "0000232836" "00385" "00307011" "00006" "Familial, autosomal recessive" "13y" "weight <1%ile, height 1.15ile; small mouth (HP:0000160); cleft lip & palate (HP:0410030, HP:0000175); limited neck rotation (HP:0005986); scoliosis (HP:0002650); short stature (HP:0004322); hip contractures (HP:0003273); elbow contractures (HP:0002987); knee contractures (HP:0006380); camptodactyly, fingers (HP:0100490); vertical talus (HP:0001838); no equinovarus (-HP:0001762); no camptodactyly, toes (-HP:0001836); no contractures of wrists (-HP:0001239); undescended testicles (HP:0000028)" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000232837" "00385" "00307012" "00006" "Familial, autosomal recessive" "24y" "weight 8%ile; small mouth (HP:0000160); cleft lip & palate (HP:0410030, HP:0000175); limited neck rotation (HP:0005986); scoliosis (HP:0002650); short stature (HP:0004322); hip contractures (HP:0003273); elbow contractures (HP:0002987); knee contractures (HP:0006380); camptodactyly, fingers (HP:0100490); vertical talus (HP:0001838); no equinovarus (-HP:0001762); no camptodactyly, toes (-HP:0001836); no contractures of wrists (-HP:0001239)" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000232838" "00385" "00307013" "00006" "Familial, autosomal recessive" "6y6m" "weight 8.8%ile, height <1%ile; small mouth (HP:0000160); no cleft lip & palate (-HP:0410030, -HP:0000175); limited neck rotation (HP:0005986); scoliosis (HP:0002650); short stature (HP:0004322); no elbow contractures (-HP:0002987); no knee contractures (-HP:0006380); camptodactyly, fingers (HP:0100490); no vertical talus (-HP:0001838); equinovarus (HP:0001762); camptodactyly, toes (HP:0001836); contractures of wrists (HP:0001239); undescended testicles (HP:0000028)" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000232839" "00385" "00307014" "00006" "Familial, autosomal recessive" "29y" "weight <1%ile, height <1%ile; no small mouth (-HP:0000160); no cleft lip & palate (-HP:0410030, -HP:0000175); limited neck rotation (HP:0005986); scoliosis (HP:0002650); short stature (HP:0004322); hip contractures (HP:0003273); elbow contractures (HP:0002987); knee contractures (HP:0006380); camptodactyly, fingers (HP:0100490); no vertical talus (-HP:0001838); equinovarus (HP:0001762); no camptodactyly, toes (-HP:0001836); contractures of wrists (HP:0001239)" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000232840" "00385" "00307015" "00006" "Familial, autosomal recessive" "8m" "short stature (HP:0004322);; ; no knee contractures (-HP:0006380); no camptodactyly, fingers (-HP:0100490); no vertical talus (-HP:0001838); equinovarus (HP:0001762); no camptodactyly, toes (-HP:0001836); no contractures of wrists (-HP:0001239)" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000232841" "00385" "00307016" "00006" "Familial, autosomal recessive" "1d" "analysis at birth (37w+2); weight 3–10%ile (1,820 g); no small mouth (-HP:0000160); no cleft lip & palate (-HP:0410030, -HP:0000175); no limited neck rotation (-HP:0005986); scoliosis (HP:0002650); hip contractures (HP:0003273); elbow contractures (HP:0002987); knee contractures (HP:0006380); camptodactyly, fingers (HP:0100490); no vertical talus (-HP:0001838); equinovarus (HP:0001762); no camptodactyly, toes (-HP:0001836); contractures of wrists (HP:0001239); no undescended testicles (-HP:0000028); short neck (HP:0000470)" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000232842" "00385" "00307017" "00006" "Familial, autosomal recessive" "<0d" "analysis 12w gestation (antenatal ultrasound); no small mouth (-HP:0000160); no limited neck rotation (-HP:0005986); no scoliosis (-HP:0002650);; equinovarus (HP:0001762); ; increased nuchal translucency" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000232843" "00385" "00307018" "00006" "Familial, autosomal recessive" "<0d" "analysis 19w gestation (perinatal autopsy); weight 50%ile (249 g), height 48%ile (22 cm); small mouth (HP:0000160), retrognathia (HP:0000278); thin vermilion (HP:0000233), bifid uvula (HP:0000193); no limited neck rotation (-HP:0005986); no scoliosis (-HP:0002650); no short stature (-HP:0004322); hip contractures (HP:0003273); no elbow contractures (-HP:0002987); knee contractures (HP:0006380); camptodactyly, fingers (HP:0100490); no vertical talus (-HP:0001838); equinovarus (HP:0001762); no camptodactyly, toes (-HP:0001836); no undescended testicles (-HP:0000028); short neck (HP:0000470)" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000232844" "00385" "00307019" "00006" "Familial, autosomal recessive" "38y" "no small mouth (-HP:0000160); no cleft lip & palate (-HP:0410030, -HP:0000175); no limited neck rotation (-HP:0005986); no scoliosis (-HP:0002650); no hip contractures (-HP:0003273); no elbow contractures (-HP:0002987); no knee contractures (-HP:0006380); camptodactyly, fingers (HP:0100490); no equinovarus (-HP:0001762); ; contractures of wrists (HP:0001239)" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000232845" "00385" "00307020" "00006" "Familial, autosomal recessive" "36y" "no small mouth (-HP:0000160); thin vermilion (HP:0000233); no limited neck rotation (-HP:0005986); no scoliosis (-HP:0002650); no hip contractures (-HP:0003273); no elbow contractures (-HP:0002987); no knee contractures (-HP:0006380); camptodactyly, fingers (HP:0100490); equinovarus (HP:0001762); ; contractures of wrists (HP:0001239)" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000232846" "00385" "00307021" "00006" "Familial, autosomal recessive" ">18y" "see paper; ..., camptodactyly, fingers (HP:0100490); contractures of wrists (HP:0001239)" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000232847" "00385" "00307022" "00006" "Familial, autosomal recessive" "1y" "see paper; ..., weight <3rd %ile; small mouth (HP:0000160), limited opening (HP:0000211); high arched palate (HP:0000218); no limited neck rotation (-HP:0005986); no scoliosis (-HP:0002650); hip contractures (HP:0003273); no elbow contractures (-HP:0002987); knee contractures (HP:0006380); camptodactyly, fingers (HP:0100490); vertical talus (HP:0001838); no equinovarus (-HP:0001762); camptodactyly, toes (HP:0001836); no contractures of wrists (-HP:0001239); undescended testicles (HP:0000028)" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000232848" "00385" "00307023" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., weight +1.5 SD, height +0.5 SD; small mouth (HP:0000160), retrognathia (HP:0000278); normal lip/palate; no limited neck rotation (-HP:0005986); no scoliosis (-HP:0002650); no short stature (-HP:0004322); no hip contractures (-HP:0003273); no elbow contractures (-HP:0002987); no knee contractures (-HP:0006380); camptodactyly, fingers (HP:0100490); vertical talus (HP:0001838) (right); equinovarus (HP:0001762) (left); no camptodactyly, toes (-HP:0001836); contractures of wrists (HP:0001239); chin skin folds" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000232849" "00385" "00307024" "00006" "Familial, autosomal recessive" "39y" "see paper; ..., weight −0.5 SD, height -0.5 SD; small mouth (HP:0000160); normal lip/palate; no limited neck rotation (-HP:0005986); no scoliosis (-HP:0002650); no short stature (-HP:0004322); no hip contractures (-HP:0003273); no elbow contractures (-HP:0002987); no knee contractures (-HP:0006380); camptodactyly, fingers (HP:0100490); vertical talus (HP:0001838); no equinovarus (-HP:0001762); no camptodactyly, toes (-HP:0001836); contractures of wrists (HP:0001239); shoulder contractures (HP:0003044)" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000232850" "00385" "00307025" "00006" "Familial, autosomal recessive" "69y" "see paper; ..., weight +0.5 SD, height 0 SD; small mouth (HP:0000160); normal lip/palate; no limited neck rotation (-HP:0005986); no scoliosis (-HP:0002650); no short stature (-HP:0004322); no hip contractures (-HP:0003273); no elbow contractures (-HP:0002987); no knee contractures (-HP:0006380); camptodactyly, fingers (HP:0100490); no vertical talus (-HP:0001838); no equinovarus (-HP:0001762); no camptodactyly, toes (-HP:0001836); contractures of wrists (HP:0001239); shoulder contractures (HP:0003044)" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000232851" "00385" "00307026" "00006" "Familial, autosomal recessive" "26y" "see paper; ..., small mouth (HP:0000160); pursed lips (HP:0000205); no limited neck rotation (-HP:0005986); scoliosis (HP:0002650); no short stature (-HP:0004322); no hip contractures (-HP:0003273); no elbow contractures (-HP:0002987); no knee contractures (-HP:0006380); camptodactyly, fingers (HP:0100490); no vertical talus (-HP:0001838); no equinovarus (-HP:0001762); no camptodactyly, toes (-HP:0001836); contractures of wrists (HP:0001239); adducted thumbs (HP:0001181), flexed metacarpophalangeal joints (HP:0006070), blepharophimosis (HP:0000581)" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000232852" "00385" "00307027" "00006" "Familial, autosomal recessive" "6m" "see paper; ..., weight −1 SD, height 0 SD; small mouth (HP:0000160); pursed lips (HP:0000205), high arched palate (HP:0000218); no limited neck rotation (-HP:0005986); no scoliosis (-HP:0002650); no short stature (-HP:0004322); no hip contractures (-HP:0003273); no elbow contractures (-HP:0002987); no knee contractures (-HP:0006380); camptodactyly, fingers (HP:0100490); no vertical talus (-HP:0001838); equinovarus (HP:0001762); no camptodactyly, toes (-HP:0001836); contractures of wrists (HP:0001239); adducted thumbs (HP:0001181), flexed metacarpophalangeal joints (HP:0006070), fifth finger clinodactyly (HP:0004209)" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000283565" "04214" "00390025" "00000" "Unknown" "11m" "Pale and tilted optic disk associated to hypoplasia, tortuous retinal vessels, non-homogeneous macula" "" "" "" "" "" "" "" "" "Retinal dystrophy" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050628" "00050683" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000308151" "00307011" "1" "00006" "00006" "2020-07-27 19:22:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308152" "00307012" "1" "00006" "00006" "2020-07-27 19:22:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308153" "00307013" "1" "00006" "00006" "2020-07-27 19:22:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308154" "00307014" "1" "00006" "00006" "2020-07-27 19:22:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308155" "00307015" "1" "00006" "00006" "2020-07-27 19:22:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308156" "00307016" "1" "00006" "00006" "2020-07-27 19:22:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308157" "00307017" "1" "00006" "00006" "2020-07-27 19:22:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308158" "00307018" "1" "00006" "00006" "2020-07-27 19:22:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308159" "00307019" "1" "00006" "00006" "2020-07-27 19:22:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308160" "00307020" "1" "00006" "00006" "2020-07-27 19:22:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308161" "00307021" "1" "00006" "00006" "2020-07-27 19:52:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308162" "00307022" "1" "00006" "00006" "2020-07-27 19:52:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308163" "00307023" "1" "00006" "00006" "2020-07-27 19:52:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308164" "00307024" "1" "00006" "00006" "2020-07-27 19:52:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308165" "00307025" "1" "00006" "00006" "2020-07-27 19:52:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308166" "00307026" "1" "00006" "00006" "2020-07-27 19:52:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308167" "00307027" "1" "00006" "00006" "2020-07-27 19:52:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000391266" "00390025" "1" "00000" "03840" "2021-11-08 12:01:50" "" "" "arrayCGH" "DNA" "" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{geneid}}" "0000308151" "MYLPF" "0000308152" "MYLPF" "0000308153" "MYLPF" "0000308154" "MYLPF" "0000308155" "MYLPF" "0000308156" "MYLPF" "0000308157" "MYLPF" "0000308158" "MYLPF" "0000308159" "MYLPF" "0000308160" "MYLPF" "0000308161" "MYLPF" "0000308162" "MYLPF" "0000308163" "MYLPF" "0000308164" "MYLPF" "0000308165" "MYLPF" "0000308166" "MYLPF" "0000308167" "MYLPF" "0000391266" "CLN3" ## 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 = 33 "{{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}}" "0000079608" "0" "90" "16" "27183151" "31888684" "dup" "0" "00006" "CLN3_000010" "g.27183151_31888684dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.33 cells" "Somatic" "" "" "0" "" "" "g.27171830_31877363dup" "" "pathogenic" "" "0000316240" "0" "30" "16" "30381208" "30381208" "subst" "0" "01943" "TBC1D10B_000001" "g.30381208T>G" "" "" "" "TBC1D10B(NM_015527.4):c.297A>C (p.E99D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30369887T>G" "" "likely benign" "" "0000324705" "0" "50" "16" "30381456" "30381456" "subst" "0" "01804" "TBC1D10B_000002" "g.30381456C>G" "" "" "" "TBC1D10B(NM_015527.3):c.49G>C (p.(Ala17Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30370135C>G" "" "VUS" "" "0000674992" "3" "90" "16" "30389181" "30389181" "subst" "1.22046E-5" "00006" "MYLPF_000003" "g.30389181G>T" "" "{PMID:Chong 2020:3270708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.30377860G>T" "" "pathogenic (recessive)" "" "0000674993" "3" "90" "16" "30389181" "30389181" "subst" "1.22046E-5" "00006" "MYLPF_000003" "g.30389181G>T" "" "{PMID:Chong 2020:3270708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.30377860G>T" "" "pathogenic (recessive)" "" "0000674994" "3" "90" "16" "30389181" "30389181" "subst" "1.22046E-5" "00006" "MYLPF_000003" "g.30389181G>T" "" "{PMID:Chong 2020:3270708}" "" "" "" "Germline" "" "" "0" "" "" "g.30377860G>T" "" "pathogenic (recessive)" "" "0000674995" "3" "90" "16" "30389180" "30389180" "subst" "1.62715E-5" "00006" "MYLPF_000002" "g.30389180T>C" "" "{PMID:Chong 2020:3270708}" "" "" "" "Germline" "" "" "0" "" "" "g.30377859T>C" "" "pathogenic (recessive)" "" "0000674996" "3" "90" "16" "30389180" "30389180" "subst" "1.62715E-5" "00006" "MYLPF_000002" "g.30389180T>C" "" "{PMID:Chong 2020:3270708}" "" "" "" "Germline" "" "" "0" "" "" "g.30377859T>C" "" "pathogenic (recessive)" "" "0000674997" "3" "90" "16" "30389180" "30389180" "subst" "1.62715E-5" "00006" "MYLPF_000002" "g.30389180T>C" "" "{PMID:Chong 2020:3270708}" "" "" "" "Germline" "" "" "0" "" "" "g.30377859T>C" "" "pathogenic (recessive)" "" "0000674998" "3" "90" "16" "30389181" "30389181" "subst" "1.22046E-5" "00006" "MYLPF_000003" "g.30389181G>T" "" "{PMID:Chong 2020:3270708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.30377860G>T" "" "pathogenic (recessive)" "" "0000674999" "3" "90" "16" "30389181" "30389181" "subst" "1.22046E-5" "00006" "MYLPF_000003" "g.30389181G>T" "" "{PMID:Chong 2020:3270708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.30377860G>T" "" "pathogenic (recessive)" "" "0000675000" "3" "90" "16" "30389181" "30389181" "subst" "1.22046E-5" "00006" "MYLPF_000003" "g.30389181G>T" "" "{PMID:Chong 2020:3270708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.30377860G>T" "" "pathogenic (recessive)" "" "0000675001" "3" "90" "16" "30389181" "30389181" "subst" "1.22046E-5" "00006" "MYLPF_000003" "g.30389181G>T" "" "{PMID:Chong 2020:3270708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.30377860G>T" "" "pathogenic (recessive)" "" "0000675002" "0" "90" "16" "30389198" "30389198" "subst" "0" "00006" "MYLPF_000004" "g.30389198G>A" "" "{PMID:Chong 2020:3270708}" "" "" "" "De novo" "" "" "0" "" "" "g.30377877G>A" "" "pathogenic (dominant)" "" "0000675003" "11" "90" "16" "30389198" "30389198" "subst" "0" "00006" "MYLPF_000004" "g.30389198G>A" "" "{PMID:Chong 2020:3270708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.30377877G>A" "" "pathogenic (dominant)" "" "0000675004" "21" "90" "16" "30387467" "30387467" "subst" "0" "00006" "MYLPF_000001" "g.30387467C>T" "" "{PMID:Chong 2020:3270708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.30376146C>T" "" "pathogenic (dominant)" "" "0000675005" "21" "90" "16" "30387467" "30387467" "subst" "0" "00006" "MYLPF_000001" "g.30387467C>T" "" "{PMID:Chong 2020:3270708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.30376146C>T" "" "pathogenic (dominant)" "" "0000675006" "21" "90" "16" "30387467" "30387467" "subst" "0" "00006" "MYLPF_000001" "g.30387467C>T" "" "{PMID:Chong 2020:3270708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.30376146C>T" "" "pathogenic (dominant)" "" "0000675007" "21" "90" "16" "30387467" "30387467" "subst" "0" "00006" "MYLPF_000001" "g.30387467C>T" "" "{PMID:Chong 2020:3270708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.30376146C>T" "" "pathogenic (dominant)" "" "0000675008" "21" "90" "16" "30387467" "30387467" "subst" "0" "00006" "MYLPF_000001" "g.30387467C>T" "" "{PMID:Chong 2020:3270708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.30376146C>T" "" "pathogenic (dominant)" "" "0000680526" "0" "30" "16" "30380599" "30380599" "subst" "0.000193631" "01943" "MYLPF_000005" "g.30380599G>T" "" "" "" "TBC1D10B(NM_015527.4):c.906C>A (p.R302=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000820998" "0" "70" "16" "28100001" "34600000" "del" "0" "00000" "CRYM_000000" "g.28100001_34600000del" "" "{PMID:Ruberto 2020:32507954}" "" "CGH array, microdeletion in 16p11.2" "zygosity not written; probable breakpoints; pathogenic in literature; genes ANKS4B,CRYM,NPIPB3,SMG1P3,RRN3P3,MIR3680-1,MIR3680-2,SLC7A5P2,LOC101927814,METTL9,IGSF6,OTOA,OTOAP1,RRN3P1,NPIPB4,NPIPB5,UQCRC2,PDZD9,MOSMO,VWA3A,EEF2K,POLR3E,CDR2,MFSD13B,HS3ST2,USP31,SCNN1G,SCNN1B,COG7,GGA2,EARS2,UBFD1,NDUFAB1,PALB2,DCTN5,PLK1,ERN2,CHP2" "Unknown" "?" "" "0" "" "" "g.28500001_35300000del" "" "likely pathogenic" "" "0000864753" "0" "30" "16" "30381474" "30381474" "subst" "0" "01943" "MYLPF_000006" "g.30381474G>A" "" "" "" "TBC1D10B(NM_015527.4):c.31C>T (p.P11S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864754" "0" "30" "16" "30381479" "30381479" "subst" "0" "01943" "MYLPF_000007" "g.30381479A>T" "" "" "" "TBC1D10B(NM_015527.4):c.26T>A (p.V9E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950637" "0" "50" "16" "30387198" "30387198" "subst" "8.13054E-6" "01804" "MYLPF_000008" "g.30387198A>G" "" "" "" "MYLPF(NM_001324458.1):c.61A>G (p.(Met21Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950638" "0" "30" "16" "30390027" "30390027" "subst" "5.00008E-5" "01804" "MYLPF_000009" "g.30390027G>A" "" "" "" "SEPT1(NM_052838.4):c.1068-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968319" "0" "30" "16" "30381026" "30381026" "subst" "0" "01804" "MYLPF_000010" "g.30381026G>A" "" "" "" "TBC1D10B(NM_015527.3):c.479C>T (p.(Thr160Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981836" "0" "50" "16" "30389168" "30389168" "subst" "0" "01804" "MYLPF_000011" "g.30389168T>C" "" "" "" "MYLPF(NM_013292.5):c.457T>C (p.(Tyr153His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002213" "0" "50" "16" "30387746" "30387746" "subst" "0" "01804" "MYLPF_000012" "g.30387746C>A" "" "" "" "MYLPF(NM_013292.3):c.175C>A (p.(Arg59Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041041" "0" "30" "16" "30388029" "30388029" "subst" "0.000164491" "01804" "MYLPF_000013" "g.30388029G>A" "" "" "" "MYLPF(NM_013292.5):c.356+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041042" "0" "30" "16" "30388306" "30388306" "subst" "0" "01804" "MYLPF_000014" "g.30388306G>A" "" "" "" "MYLPF(NM_013292.5):c.356+287G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055530" "0" "30" "16" "30386188" "30386188" "subst" "0.000126894" "01804" "MYLPF_000015" "g.30386188G>A" "" "" "" "MYLPF(NM_013292.5):c.3+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055531" "0" "50" "16" "30387480" "30387480" "subst" "8.13279E-6" "01804" "MYLPF_000016" "g.30387480C>G" "" "" "" "MYLPF(NM_013292.5):c.111C>G (p.(Ile37Met))" "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 MYLPF ## Count = 33 "{{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}}" "0000079608" "00014166" "00" "-3203028" "0" "1499973" "0" "c.-3203028_*1499463dup" "" "" "" "0000316240" "00014166" "30" "-4971" "0" "-4971" "0" "c.-4971T>G" "r.(?)" "p.(=)" "" "0000324705" "00014166" "50" "-4723" "0" "-4723" "0" "c.-4723C>G" "r.(?)" "p.(=)" "" "0000674992" "00014166" "90" "470" "0" "470" "0" "c.470G>T" "r.(?)" "p.(Cys157Phe)" "7" "0000674993" "00014166" "90" "470" "0" "470" "0" "c.470G>T" "r.(?)" "p.(Cys157Phe)" "7" "0000674994" "00014166" "90" "470" "0" "470" "0" "c.470G>T" "r.(?)" "p.(Cys157Phe)" "7" "0000674995" "00014166" "90" "469" "0" "469" "0" "c.469T>C" "r.(?)" "p.(Cys157Arg)" "7" "0000674996" "00014166" "90" "469" "0" "469" "0" "c.469T>C" "r.(?)" "p.(Cys157Arg)" "7" "0000674997" "00014166" "90" "469" "0" "469" "0" "c.469T>C" "r.(?)" "p.(Cys157Arg)" "7" "0000674998" "00014166" "90" "470" "0" "470" "0" "c.470G>T" "r.(?)" "p.(Cys157Phe)" "7" "0000674999" "00014166" "90" "470" "0" "470" "0" "c.470G>T" "r.(?)" "p.(Cys157Phe)" "7" "0000675000" "00014166" "90" "470" "0" "470" "0" "c.470G>T" "r.(?)" "p.(Cys157Phe)" "7" "0000675001" "00014166" "90" "470" "0" "470" "0" "c.470G>T" "r.(?)" "p.(Cys157Phe)" "7" "0000675002" "00014166" "90" "487" "0" "487" "0" "c.487G>A" "r.(?)" "p.(Gly163Ser)" "" "0000675003" "00014166" "90" "487" "0" "487" "0" "c.487G>A" "r.(?)" "p.(Gly163Ser)" "" "0000675004" "00014166" "90" "98" "0" "98" "0" "c.98C>T" "r.(?)" "p.(Ala33Val)" "" "0000675005" "00014166" "90" "98" "0" "98" "0" "c.98C>T" "r.(?)" "p.(Ala33Val)" "" "0000675006" "00014166" "90" "98" "0" "98" "0" "c.98C>T" "r.(?)" "p.(Ala33Val)" "" "0000675007" "00014166" "90" "98" "0" "98" "0" "c.98C>T" "r.(?)" "p.(Ala33Val)" "" "0000675008" "00014166" "90" "98" "0" "98" "0" "c.98C>T" "r.(?)" "p.(Ala33Val)" "" "0000680526" "00014166" "30" "-5580" "0" "-5580" "0" "c.-5580G>T" "r.(?)" "p.(=)" "" "0000820998" "00014166" "70" "-2286178" "0" "4211289" "0" "c.-2286178_*4210779del" "r.0?" "p.0?" "" "0000864753" "00014166" "30" "-4705" "0" "-4705" "0" "c.-4705G>A" "r.(?)" "p.(=)" "" "0000864754" "00014166" "30" "-4700" "0" "-4700" "0" "c.-4700A>T" "r.(?)" "p.(=)" "" "0000950637" "00014166" "50" "61" "0" "61" "0" "c.61A>G" "r.(?)" "p.(Met21Val)" "" "0000950638" "00014166" "30" "1316" "0" "1316" "0" "c.*806G>A" "r.(=)" "p.(=)" "" "0000968319" "00014166" "30" "-5153" "0" "-5153" "0" "c.-5153G>A" "r.(?)" "p.(=)" "" "0000981836" "00014166" "50" "457" "0" "457" "0" "c.457T>C" "r.(?)" "p.(Tyr153His)" "" "0001002213" "00014166" "50" "175" "0" "175" "0" "c.175C>A" "r.(?)" "p.(Arg59Ser)" "" "0001041041" "00014166" "30" "356" "10" "356" "10" "c.356+10G>A" "r.(=)" "p.(=)" "" "0001041042" "00014166" "30" "356" "287" "356" "287" "c.356+287G>A" "r.(=)" "p.(=)" "" "0001055530" "00014166" "30" "3" "7" "3" "7" "c.3+7G>A" "r.(=)" "p.(=)" "" "0001055531" "00014166" "50" "111" "0" "111" "0" "c.111C>G" "r.(?)" "p.(Ile37Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000050628" "0000079608" "0000308151" "0000674992" "0000308152" "0000674993" "0000308153" "0000674994" "0000308154" "0000674995" "0000308155" "0000674996" "0000308156" "0000674997" "0000308157" "0000674998" "0000308158" "0000674999" "0000308159" "0000675000" "0000308160" "0000675001" "0000308161" "0000675002" "0000308162" "0000675003" "0000308163" "0000675004" "0000308164" "0000675005" "0000308165" "0000675006" "0000308166" "0000675007" "0000308167" "0000675008" "0000391266" "0000820998"