### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SIPA1L3) # 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}}" "SIPA1L3" "signal-induced proliferation-associated 1 like 3" "19" "q13.13" "unknown" "NC_000019.9" "UD_132378780419" "" "http://www.LOVD.nl/SIPA1L3" "" "1" "23801" "23094" "616655" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/SIPA1L3_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2014-12-05 14:19:03" "00000" "2025-11-14 11:44:03" ## 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}}" "00000646" "SIPA1L3" "signal-induced proliferation-associated 1 like 3" "001" "NM_015073.1" "" "NP_055888.1" "" "" "" "-509" "7475" "5346" "38397868" "38699009" "00000" "2012-09-13 12:43:31" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "06411" "CTRCT45" "?Cataract 45" "AR" "616851" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SIPA1L3" "06411" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00025020" "" "" "" "1" "" "01161" "" "2-generation family, 2 affecteds, patient I.2" "F" "yes" "Germany" "" "0" "" "" "white" "" "00025118" "" "" "" "1" "" "01161" "" "2-generation family, sister of PatI.2" "F" "yes" "Germany" "" "0" "" "" "white" "" "00025124" "" "" "" "1" "" "01161" "" "Father of 00025020 and 00025118" "M" "?" "Germany" "" "0" "" "" "white" "" "00025125" "" "" "" "1" "" "01161" "" "Mother of 00025020 and 00025118" "F" "?" "Germany" "" "0" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00025020" "00296" "00025118" "00296" "00025124" "00000" "00025125" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00296, 01157, 06411 ## Count = 4 "{{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}}" "0000021234" "00296" "00025020" "01161" "Familial, autosomal recessive" "" "complete bilateral dense white autosomal recessive congenital cataract" "" "" "" "" "" "" "" "" "" "0000021235" "00296" "00025118" "01161" "Familial, autosomal recessive" "" "complete bilateral dense white autosomal recessive congenital cataract" "" "" "" "" "" "" "" "" "" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000025021" "00025020" "1" "01161" "01161" "2014-12-03 14:00:41" "" "" "SEQ-NG" "DNA" "Blood" "" "0000025121" "00025118" "1" "01161" "01161" "2014-12-04 20:17:31" "" "" "SEQ-NG" "DNA" "Blood" "" "0000025127" "00025124" "1" "01161" "01161" "2014-12-05 10:16:57" "" "" "SEQ-NG" "DNA" "Blood" "" "0000025128" "00025125" "1" "01161" "01161" "2014-12-05 10:35:00" "" "" "SEQ-NG" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 59 "{{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}}" "0000005874" "3" "70" "19" "38472925" "38472925" "subst" "0" "00037" "SIPA1L3_000001" "g.38472925G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.37982285G>A" "" "likely pathogenic" "" "0000013820" "3" "30" "19" "38471416" "38471416" "subst" "0" "00037" "SIPA1L3_000002" "g.38471416A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.37980776A>G" "" "likely benign" "" "0000047875" "3" "90" "19" "38682843" "38682843" "subst" "8.15003E-6" "01161" "SIPA1L3_000003" "g.38682843C>T" "" "" "" "" "SIPA1L3 identified by linkage analysis and whole exome sequencing as a novel gene for autosomal recessive congenital cataract" "Germline" "yes" "" "0" "" "" "g.38192203C>T" "" "pathogenic" "" "0000047983" "3" "90" "19" "38682843" "38682843" "subst" "8.15003E-6" "01161" "SIPA1L3_000003" "g.38682843C>T" "" "" "" "" "SIPA1L3 identified by linkage analysis and whole exome sequencing as a novel gene for autosomal recessive congenital cataract." "Germline" "yes" "" "0" "" "" "g.38192203C>T" "" "pathogenic" "" "0000047996" "0" "90" "19" "38682843" "38682843" "subst" "8.15003E-6" "01161" "SIPA1L3_000003" "g.38682843C>T" "" "" "" "" "" "Germline" "-" "" "0" "" "" "g.38192203C>T" "" "pathogenic" "" "0000048000" "0" "90" "19" "38682843" "38682843" "subst" "8.15003E-6" "01161" "SIPA1L3_000003" "g.38682843C>T" "" "" "" "" "" "Germline" "-" "" "0" "" "" "g.38192203C>T" "" "pathogenic" "" "0000256296" "0" "50" "19" "38643589" "38643589" "subst" "0.000564007" "01943" "SIPA1L3_000013" "g.38643589A>G" "" "" "" "SIPA1L3(NM_015073.2):c.3643A>G (p.M1215V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38152949A>G" "" "VUS" "" "0000308151" "0" "50" "19" "38590615" "38590615" "subst" "4.21273E-6" "01943" "SIPA1L3_000008" "g.38590615G>A" "" "" "" "SIPA1L3(NM_015073.2):c.1679G>A (p.R560Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38099975G>A" "" "VUS" "" "0000308152" "0" "50" "19" "38572392" "38572397" "del" "0" "01943" "SIPA1L3_000005" "g.38572392_38572397del" "" "" "" "SIPA1L3(NM_015073.2):c.187_192delGCCACC (p.A63_T64del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38081752_38081757del" "" "VUS" "" "0000308153" "0" "30" "19" "38609940" "38609940" "subst" "0.00146086" "01943" "SIPA1L3_000009" "g.38609940C>T" "" "" "" "SIPA1L3(NM_015073.2):c.2292-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38119300C>T" "" "likely benign" "" "0000308154" "0" "30" "19" "38609982" "38609982" "subst" "4.87864E-5" "01943" "SIPA1L3_000010" "g.38609982C>T" "" "" "" "SIPA1L3(NM_015073.2):c.2328C>T (p.F776=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38119342C>T" "" "likely benign" "" "0000308155" "0" "50" "19" "38610312" "38610312" "subst" "0.000125966" "01943" "SIPA1L3_000011" "g.38610312C>G" "" "" "" "SIPA1L3(NM_015073.2):c.2658C>G (p.I886M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38119672C>G" "" "VUS" "" "0000308156" "0" "30" "19" "38631856" "38631856" "subst" "0.000459905" "01943" "SIPA1L3_000012" "g.38631856C>T" "" "" "" "SIPA1L3(NM_015073.2):c.3176C>T (p.S1059L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38141216C>T" "" "likely benign" "" "0000308157" "0" "50" "19" "38655347" "38655347" "subst" "0" "01943" "SIPA1L3_000014" "g.38655347C>G" "" "" "" "SIPA1L3(NM_015073.2):c.4009C>G (p.P1337A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38164707C>G" "" "VUS" "" "0000308158" "0" "10" "19" "38572777" "38572777" "subst" "0.00191238" "01943" "SIPA1L3_000007" "g.38572777G>A" "" "" "" "SIPA1L3(NM_015073.2):c.572G>A (p.R191Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38082137G>A" "" "benign" "" "0000326405" "0" "50" "19" "38572753" "38572772" "dup" "0" "01804" "SIPA1L3_000006" "g.38572753_38572772dup" "" "" "" "SIPA1L3(NM_015073.1):c.545_546insGGACGCGGGGGAGCCGCGGG (p.(Ala190ThrfsTer40))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38082113_38082132dup" "" "VUS" "" "0000567094" "0" "10" "19" "38572392" "38572397" "dup" "0" "01943" "SIPA1L3_000004" "g.38572392_38572397dup" "" "" "" "SIPA1L3(NM_015073.2):c.187_192dupGCCACC (p.A63_T64dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38081752_38081757dup" "" "benign" "" "0000567096" "0" "50" "19" "38572970" "38572972" "dup" "0" "01943" "SIPA1L3_000017" "g.38572970_38572972dup" "" "" "" "SIPA1L3(NM_015073.2):c.765_767dupCGG (p.G256dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38082330_38082332dup" "" "VUS" "" "0000567097" "0" "30" "19" "38572993" "38572993" "subst" "0.000497212" "01943" "SIPA1L3_000018" "g.38572993A>G" "" "" "" "SIPA1L3(NM_015073.2):c.788A>G (p.N263S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38082353A>G" "" "likely benign" "" "0000567098" "0" "30" "19" "38573025" "38573025" "subst" "4.63843E-5" "01943" "SIPA1L3_000019" "g.38573025C>G" "" "" "" "SIPA1L3(NM_015073.2):c.820C>G (p.L274V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38082385C>G" "" "likely benign" "" "0000567099" "0" "30" "19" "38573158" "38573158" "subst" "0.000230728" "01943" "SIPA1L3_000020" "g.38573158C>T" "" "" "" "SIPA1L3(NM_015073.2):c.953C>T (p.P318L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38082518C>T" "" "likely benign" "" "0000567100" "0" "30" "19" "38573222" "38573222" "subst" "4.40141E-6" "01943" "SIPA1L3_000021" "g.38573222C>T" "" "" "" "SIPA1L3(NM_015073.2):c.1017C>T (p.S339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38082582C>T" "" "likely benign" "" "0000567101" "0" "30" "19" "38573333" "38573333" "subst" "0.000287406" "01943" "SIPA1L3_000022" "g.38573333C>T" "" "" "" "SIPA1L3(NM_015073.2):c.1128C>T (p.S376=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38082693C>T" "" "likely benign" "" "0000567102" "0" "10" "19" "38573450" "38573450" "subst" "0.00148429" "01943" "SIPA1L3_000023" "g.38573450C>T" "" "" "" "SIPA1L3(NM_015073.2):c.1245C>T (p.L415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38082810C>T" "" "benign" "" "0000567103" "0" "30" "19" "38573594" "38573594" "subst" "0" "01943" "SIPA1L3_000024" "g.38573594C>G" "" "" "" "SIPA1L3(NM_015073.2):c.1389C>G (p.A463=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38082954C>G" "" "likely benign" "" "0000567105" "0" "30" "19" "38631818" "38631818" "subst" "0" "01943" "SIPA1L3_000025" "g.38631818C>A" "" "" "" "SIPA1L3(NM_015073.2):c.3144-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38141178C>A" "" "likely benign" "" "0000567107" "0" "50" "19" "38655207" "38655207" "subst" "0" "01943" "SIPA1L3_000027" "g.38655207C>T" "" "" "" "SIPA1L3(NM_015073.2):c.3869C>T (p.P1290L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38164567C>T" "" "VUS" "" "0000567108" "0" "30" "19" "38655449" "38655449" "subst" "0.00224894" "01943" "SIPA1L3_000028" "g.38655449G>A" "" "" "" "SIPA1L3(NM_015073.2):c.4111G>A (p.G1371S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38164809G>A" "" "likely benign" "" "0000567109" "0" "30" "19" "38673162" "38673162" "subst" "2.9373E-5" "01943" "SIPA1L3_000029" "g.38673162C>T" "" "" "" "SIPA1L3(NM_015073.2):c.4212C>T (p.D1404=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38182522C>T" "" "likely benign" "" "0000567110" "0" "50" "19" "38692547" "38692547" "subst" "3.25598E-5" "01943" "SIPA1L3_000030" "g.38692547G>A" "" "" "" "SIPA1L3(NM_015073.2):c.5030G>A (p.S1677N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38201907G>A" "" "VUS" "" "0000567111" "0" "30" "19" "38692569" "38692569" "subst" "0" "01943" "SIPA1L3_000031" "g.38692569C>T" "" "" "" "SIPA1L3(NM_015073.2):c.5052C>T (p.H1684=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38201929C>T" "" "likely benign" "" "0000617570" "0" "30" "19" "38655280" "38655280" "subst" "4.06352E-6" "01943" "SIPA1L3_000033" "g.38655280C>G" "" "" "" "SIPA1L3(NM_015073.2):c.3942C>G (p.T1314=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38164640C>G" "" "likely benign" "" "0000617571" "0" "30" "19" "38684392" "38684392" "subst" "0.00256552" "01943" "SIPA1L3_000034" "g.38684392C>T" "" "" "" "SIPA1L3(NM_015073.2):c.4812C>T (p.A1604=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38193752C>T" "" "likely benign" "" "0000623990" "0" "30" "19" "38610444" "38610444" "subst" "0.000467906" "01943" "SIPA1L3_000032" "g.38610444T>C" "" "" "" "SIPA1L3(NM_015073.2):c.2790T>C (p.Y930=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38119804T>C" "" "likely benign" "" "0000658554" "0" "50" "19" "38573354" "38573365" "dup" "0" "01943" "SIPA1L3_000035" "g.38573354_38573365dup" "" "" "" "SIPA1L3(NM_015073.2):c.1149_1160dupCCTCACGGCCTC (p.L384_S387dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38082714_38082725dup" "" "VUS" "" "0000658555" "0" "30" "19" "38597262" "38597262" "subst" "6.49947E-5" "01943" "SIPA1L3_000036" "g.38597262C>T" "" "" "" "SIPA1L3(NM_015073.2):c.2115C>T (p.T705=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38106622C>T" "" "likely benign" "" "0000681394" "0" "50" "19" "38572386" "38572397" "del" "0" "01943" "SIPA1L3_000037" "g.38572386_38572397del" "" "" "" "SIPA1L3(NM_015073.2):c.181_192delGCCACCGCCACC (p.A61_T64del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681395" "0" "30" "19" "38655332" "38655332" "subst" "8.20648E-6" "01943" "SIPA1L3_000038" "g.38655332G>A" "" "" "" "SIPA1L3(NM_015073.2):c.3994G>A (p.A1332T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681396" "0" "30" "19" "38684290" "38684290" "subst" "0.000496684" "01943" "SIPA1L3_000039" "g.38684290C>T" "" "" "" "SIPA1L3(NM_015073.2):c.4710C>T (p.D1570=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692779" "0" "50" "19" "38610100" "38610100" "subst" "0" "01943" "SIPA1L3_000040" "g.38610100A>G" "" "" "" "SIPA1L3(NM_015073.2):c.2446A>G (p.M816V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692780" "0" "30" "19" "38655389" "38655389" "subst" "2.48961E-5" "01943" "SIPA1L3_000041" "g.38655389G>T" "" "" "" "SIPA1L3(NM_015073.2):c.4051G>T (p.A1351S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692781" "0" "50" "19" "38689053" "38689053" "subst" "5.02347E-5" "01943" "SIPA1L3_000042" "g.38689053C>T" "" "" "" "SIPA1L3(NM_015073.2):c.4865C>T (p.S1622L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727300" "0" "30" "19" "38573183" "38573183" "subst" "0" "01943" "SIPA1L3_000043" "g.38573183C>G" "" "" "" "SIPA1L3(NM_015073.2):c.978C>G (p.S326R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727301" "0" "50" "19" "38610040" "38610040" "subst" "0.000361398" "01943" "SIPA1L3_000044" "g.38610040T>A" "" "" "" "SIPA1L3(NM_015073.2):c.2386T>A (p.L796M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808837" "0" "30" "19" "38573669" "38573669" "subst" "9.05089E-5" "01943" "SIPA1L3_000045" "g.38573669G>T" "" "" "" "SIPA1L3(NM_015073.2):c.1464G>T (p.R488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808838" "0" "30" "19" "38600905" "38600905" "subst" "1.6245E-5" "01943" "SIPA1L3_000046" "g.38600905G>T" "" "" "" "SIPA1L3(NM_015073.2):c.2172G>T (p.T724=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000839990" "0" "70" "19" "38572816" "38572816" "dup" "0" "03779" "SIPA1L3_000047" "g.38572816dup" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000839995" "0" "50" "19" "38609986" "38609986" "subst" "4.06567E-6" "03779" "SIPA1L3_000048" "g.38609986C>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs371377421" "0" "" "" "" "" "VUS" "" "0000855551" "0" "30" "19" "38572544" "38572544" "subst" "0.000207145" "01943" "SIPA1L3_000049" "g.38572544G>A" "" "" "" "SIPA1L3(NM_015073.2):c.339G>A (p.M113I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855552" "0" "50" "19" "38572678" "38572678" "subst" "0.000175" "01943" "SIPA1L3_000050" "g.38572678C>G" "" "" "" "SIPA1L3(NM_015073.2):c.473C>G (p.S158C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855553" "0" "50" "19" "38684388" "38684388" "subst" "0.000282128" "01943" "SIPA1L3_000056" "g.38684388C>G" "" "" "" "SIPA1L3(NM_015073.2):c.4808C>G (p.P1603R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866051" "0" "30" "19" "38573627" "38573627" "subst" "4.10256E-6" "01943" "SIPA1L3_000051" "g.38573627G>C" "" "" "" "SIPA1L3(NM_015073.2):c.1422G>C (p.S474=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866052" "0" "50" "19" "38632048" "38632048" "subst" "9.097E-5" "01943" "SIPA1L3_000052" "g.38632048G>A" "" "" "" "SIPA1L3(NM_015073.2):c.3368G>A (p.R1123Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866053" "0" "30" "19" "38633309" "38633309" "subst" "7.31166E-5" "01943" "SIPA1L3_000053" "g.38633309C>G" "" "" "" "SIPA1L3(NM_015073.2):c.3492C>G (p.P1164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866054" "0" "50" "19" "38682861" "38682861" "subst" "9.36002E-5" "01943" "SIPA1L3_000054" "g.38682861C>T" "" "" "" "SIPA1L3(NM_015073.2):c.4507C>T (p.R1503W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866055" "0" "50" "19" "38684340" "38684340" "subst" "0" "01943" "SIPA1L3_000055" "g.38684340G>A" "" "" "" "SIPA1L3(NM_015073.2):c.4760G>A (p.R1587H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983411" "0" "30" "19" "38572546" "38572546" "subst" "0.00478895" "01804" "SIPA1L3_000058" "g.38572546C>A" "" "" "" "SIPA1L3(NM_015073.3):c.341C>A (p.(Ala114Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983412" "0" "30" "19" "38621330" "38621330" "subst" "0.000126057" "01804" "SIPA1L3_000059" "g.38621330G>A" "" "" "" "SIPA1L3(NM_015073.3):c.3061G>A (p.(Asp1021Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001059329" "0" "50" "19" "38573715" "38573715" "subst" "4.15759E-6" "03779" "SIPA1L3_000060" "g.38573715T>C" "" "" "" "" "" "Unknown" "" "rs1373589586" "0" "" "" "" "" "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 SIPA1L3 ## Count = 59 "{{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}}" "0000005874" "00000646" "30" "-378" "-46804" "-378" "-46804" "c.-378-46804G>A" "r.(=)" "p.(=)" "1i" "0000013820" "00000646" "30" "-378" "-48313" "-378" "-48313" "c.-378-48313A>G" "r.(=)" "p.(=)" "1i" "0000047875" "00000646" "90" "4489" "0" "4489" "0" "c.4489C>T" "r.(?)" "p.(Arg1497*)" "17" "0000047983" "00000646" "90" "4489" "0" "4489" "0" "c.4489C>T" "r.(?)" "p.(Arg1497*)" "17" "0000047996" "00000646" "90" "4489" "0" "4489" "0" "c.4489C>T" "r.(?)" "p.(Arg1497*)" "17" "0000048000" "00000646" "90" "4489" "0" "4489" "0" "c.4489C>T" "r.(?)" "p.(Arg1497*)" "17" "0000256296" "00000646" "50" "3643" "0" "3643" "0" "c.3643A>G" "r.(?)" "p.(Met1215Val)" "" "0000308151" "00000646" "50" "1679" "0" "1679" "0" "c.1679G>A" "r.(?)" "p.(Arg560Gln)" "" "0000308152" "00000646" "50" "187" "0" "192" "0" "c.187_192del" "r.(?)" "p.(Ala63_Thr64del)" "" "0000308153" "00000646" "30" "2292" "-6" "2292" "-6" "c.2292-6C>T" "r.(=)" "p.(=)" "" "0000308154" "00000646" "30" "2328" "0" "2328" "0" "c.2328C>T" "r.(?)" "p.(Phe776=)" "" "0000308155" "00000646" "50" "2658" "0" "2658" "0" "c.2658C>G" "r.(?)" "p.(Ile886Met)" "" "0000308156" "00000646" "30" "3176" "0" "3176" "0" "c.3176C>T" "r.(?)" "p.(Ser1059Leu)" "" "0000308157" "00000646" "50" "4009" "0" "4009" "0" "c.4009C>G" "r.(?)" "p.(Pro1337Ala)" "" "0000308158" "00000646" "10" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Arg191Gln)" "" "0000326405" "00000646" "50" "548" "0" "567" "0" "c.548_567dup" "r.(?)" "p.(Ala190ThrfsTer40)" "" "0000567094" "00000646" "10" "187" "0" "192" "0" "c.187_192dup" "r.(?)" "p.(Ala63_Thr64dup)" "" "0000567096" "00000646" "50" "765" "0" "767" "0" "c.765_767dup" "r.(?)" "p.(Gly256dup)" "" "0000567097" "00000646" "30" "788" "0" "788" "0" "c.788A>G" "r.(?)" "p.(Asn263Ser)" "" "0000567098" "00000646" "30" "820" "0" "820" "0" "c.820C>G" "r.(?)" "p.(Leu274Val)" "" "0000567099" "00000646" "30" "953" "0" "953" "0" "c.953C>T" "r.(?)" "p.(Pro318Leu)" "" "0000567100" "00000646" "30" "1017" "0" "1017" "0" "c.1017C>T" "r.(?)" "p.(Ser339=)" "" "0000567101" "00000646" "30" "1128" "0" "1128" "0" "c.1128C>T" "r.(?)" "p.(Ser376=)" "" "0000567102" "00000646" "10" "1245" "0" "1245" "0" "c.1245C>T" "r.(?)" "p.(Leu415=)" "" "0000567103" "00000646" "30" "1389" "0" "1389" "0" "c.1389C>G" "r.(?)" "p.(Ala463=)" "" "0000567105" "00000646" "30" "3144" "-6" "3144" "-6" "c.3144-6C>A" "r.(=)" "p.(=)" "" "0000567107" "00000646" "50" "3869" "0" "3869" "0" "c.3869C>T" "r.(?)" "p.(Pro1290Leu)" "" "0000567108" "00000646" "30" "4111" "0" "4111" "0" "c.4111G>A" "r.(?)" "p.(Gly1371Ser)" "" "0000567109" "00000646" "30" "4212" "0" "4212" "0" "c.4212C>T" "r.(?)" "p.(Asp1404=)" "" "0000567110" "00000646" "50" "5030" "0" "5030" "0" "c.5030G>A" "r.(?)" "p.(Ser1677Asn)" "" "0000567111" "00000646" "30" "5052" "0" "5052" "0" "c.5052C>T" "r.(?)" "p.(His1684=)" "" "0000617570" "00000646" "30" "3942" "0" "3942" "0" "c.3942C>G" "r.(?)" "p.(Thr1314=)" "" "0000617571" "00000646" "30" "4812" "0" "4812" "0" "c.4812C>T" "r.(?)" "p.(Ala1604=)" "" "0000623990" "00000646" "30" "2790" "0" "2790" "0" "c.2790T>C" "r.(?)" "p.(Tyr930=)" "" "0000658554" "00000646" "50" "1149" "0" "1160" "0" "c.1149_1160dup" "r.(?)" "p.(Leu384_Ser387dup)" "" "0000658555" "00000646" "30" "2115" "0" "2115" "0" "c.2115C>T" "r.(?)" "p.(Thr705=)" "" "0000681394" "00000646" "50" "181" "0" "192" "0" "c.181_192del" "r.(?)" "p.(Ala61_Thr64del)" "" "0000681395" "00000646" "30" "3994" "0" "3994" "0" "c.3994G>A" "r.(?)" "p.(Ala1332Thr)" "" "0000681396" "00000646" "30" "4710" "0" "4710" "0" "c.4710C>T" "r.(?)" "p.(Asp1570=)" "" "0000692779" "00000646" "50" "2446" "0" "2446" "0" "c.2446A>G" "r.(?)" "p.(Met816Val)" "" "0000692780" "00000646" "30" "4051" "0" "4051" "0" "c.4051G>T" "r.(?)" "p.(Ala1351Ser)" "" "0000692781" "00000646" "50" "4865" "0" "4865" "0" "c.4865C>T" "r.(?)" "p.(Ser1622Leu)" "" "0000727300" "00000646" "30" "978" "0" "978" "0" "c.978C>G" "r.(?)" "p.(Ser326Arg)" "" "0000727301" "00000646" "50" "2386" "0" "2386" "0" "c.2386T>A" "r.(?)" "p.(Leu796Met)" "" "0000808837" "00000646" "30" "1464" "0" "1464" "0" "c.1464G>T" "r.(?)" "p.(Arg488=)" "" "0000808838" "00000646" "30" "2172" "0" "2172" "0" "c.2172G>T" "r.(?)" "p.(Thr724=)" "" "0000839990" "00000646" "70" "611" "0" "611" "0" "c.611dup" "r.(?)" "p.(Ser204ArgfsTer215)" "" "0000839995" "00000646" "50" "2332" "0" "2332" "0" "c.2332C>A" "r.(?)" "p.(Pro778Thr)" "" "0000855551" "00000646" "30" "339" "0" "339" "0" "c.339G>A" "r.(?)" "p.(Met113Ile)" "" "0000855552" "00000646" "50" "473" "0" "473" "0" "c.473C>G" "r.(?)" "p.(Ser158Cys)" "" "0000855553" "00000646" "50" "4808" "0" "4808" "0" "c.4808C>G" "r.(?)" "p.(Pro1603Arg)" "" "0000866051" "00000646" "30" "1422" "0" "1422" "0" "c.1422G>C" "r.(?)" "p.(Ser474=)" "" "0000866052" "00000646" "50" "3368" "0" "3368" "0" "c.3368G>A" "r.(?)" "p.(Arg1123Gln)" "" "0000866053" "00000646" "30" "3492" "0" "3492" "0" "c.3492C>G" "r.(?)" "p.(Pro1164=)" "" "0000866054" "00000646" "50" "4507" "0" "4507" "0" "c.4507C>T" "r.(?)" "p.(Arg1503Trp)" "" "0000866055" "00000646" "50" "4760" "0" "4760" "0" "c.4760G>A" "r.(?)" "p.(Arg1587His)" "" "0000983411" "00000646" "30" "341" "0" "341" "0" "c.341C>A" "r.(?)" "p.(Ala114Asp)" "" "0000983412" "00000646" "30" "3061" "0" "3061" "0" "c.3061G>A" "r.(?)" "p.(Asp1021Asn)" "" "0001059329" "00000646" "50" "1510" "0" "1510" "0" "c.1510T>C" "r.(?)" "p.(Tyr504His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000000209" "0000005874" "0000000210" "0000013820" "0000025021" "0000047875" "0000025121" "0000047983" "0000025127" "0000047996" "0000025128" "0000048000"