### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ST3GAL3) # 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}}" "ST3GAL3" "ST3 beta-galactoside alpha-2,3-sialyltransferase 3" "1" "p34.1" "unknown" "NG_028196.1" "UD_134408247326" "" "https://www.LOVD.nl/ST3GAL3" "" "1" "10866" "6487" "606494" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ST3GAL3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-03-17 16:08:26" "00000" "2021-09-17 14:40:49" ## 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}}" "00020373" "ST3GAL3" "transcript variant 1" "001" "NM_174963.3" "" "NP_777623.2" "" "" "" "-191" "2279" "1335" "44173204" "44396837" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00791" "MRT12" "mental retardation, autosomal recessive, type 12 (MRT-12)" "AR" "611090" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04676" "EIEE15" "encephalopathy, epileptic, early infantile, type 15 (EIEE-15)" "AR" "615006" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "ST3GAL3" "00139" "ST3GAL3" "00791" "ST3GAL3" "04676" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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" "" "" "" "" "00116804" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_1:0/1:CONTROL" "00116821" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_133:0/1:CONTROL" "00116998" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_525:0/1:CONTROL" "00155023" "" "" "" "4" "" "01912" "{PMID:Edvardson 2013:23252400}" "4-generation family, 4 affecteds (F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Israel" "" "0" "" "" "Palestinian" "23252400-Fam" "00155024" "" "" "" "8" "" "01912" "{PMID:Hu 2011:21907012}" "6-generation family, 8 affecteds (4F, 4M), unaffected heterozygous carrier parents" "F;M" "yes" "Iran" "" "0" "" "" "" "21907012-FamM096" "00155026" "" "" "" "4" "" "01912" "{PMID:Hu 2011:21907012}" "2-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Iran" "" "0" "" "" "" "21907012-FamM319" "00275682" "" "" "" "4" "" "03388" "{PMID:Farajollahi 2020:32666583}" "2-generation family, 4 affected, unaffected heterozygous carrier parents" "" "yes" "Iran" "31y?" "0" "" "" "" "ST3GAL3_AF4" "00374688" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4228" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00116804" "00000" "00116821" "00000" "00116998" "00000" "00155023" "04676" "00155024" "00791" "00155026" "00791" "00275682" "00139" "00374688" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00791, 01157, 04676 ## Count = 7 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}" "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" "" "" "" "" "" "" "" "" "" "0000127752" "04676" "00155023" "01912" "Familial, autosomal recessive" "" "see paper; ..., infantile spasms flexor type mainly, appearing 3-7m, accompanied by hypsarrhythmic EEG-pattern; when grew older, seizures continued and evolved to Lennox-Gastaut syndrome; severe developmental delay evident first few months of life, predating seizure disorder" "" "" "" "" "" "" "" "" "" "EIEE-15" "West syndrome" "" "0000127753" "00791" "00155024" "01912" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "MRT-12" "nonsyndromic autosomal recessive intellectual disability (NSARID)" "" "0000127754" "00791" "00155026" "01912" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "MRT-12" "nonsyndromic autosomal recessive intellectual disability (NSARID)" "" "0000210287" "00139" "00275682" "03388" "Familial, autosomal recessive" "31y?" "HP:0006579, HP:0002355, HP:0002359, HP:0000718, HP:0002355, HP:0002359, HP:0010864; severe intellectual disability (HP:0010864); mild global developmental delay (HP:0011342); speech delay (HP:0000750)" "?" "" "31y?" "" "ST3Gal-III" "" "" "" "" "Non-syndromic intellectual disability" "Intellectual disability" "" "0000269898" "00198" "00374688" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy, intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{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" "" "" "0000117272" "00116804" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117289" "00116821" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117466" "00116998" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000155887" "00155023" "1" "01912" "01912" "2018-03-12 14:56:01" "" "" "SEQ-NG-S" "DNA" "" "WES" "0000155888" "00155024" "1" "01912" "01912" "2018-03-12 16:02:04" "" "" "SEQ-NG-I" "DNA" "" "" "0000155889" "00155026" "1" "01912" "01912" "2018-03-12 16:35:53" "" "" "SEQ-NG-I" "DNA" "" "" "0000276840" "00275682" "1" "03388" "03388" "2020-01-14 07:24:09" "" "" "SEQ-NG" "DNA" "Blood" "WES" "0000375882" "00374688" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000276840" "ST3GAL3" "0000375882" "CHD2" ## 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 = 30 "{{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}}" "0000002249" "3" "50" "1" "44209514" "44209514" "del" "0" "00037" "ST3GAL3_000001" "g.44209514del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.43743843del" "" "VUS" "" "0000003430" "3" "50" "1" "44386615" "44386615" "subst" "0.881709" "00037" "ST3GAL3_000003" "g.44386615A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.43920943A>G" "" "VUS" "" "0000010294" "0" "50" "1" "44209511" "44209511" "del" "0" "00037" "ST3GAL3_000002" "g.44209511del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.43743840del" "" "VUS" "" "0000188117" "0" "50" "1" "44395825" "44395825" "subst" "0.0000162462" "02192" "ST3GAL3_000006" "g.44395825C>T" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "stopgain variant" "Germline" "" "" "0" "" "" "g.43930153C>T" "" "VUS" "" "0000188134" "0" "50" "1" "44360096" "44360096" "subst" "0.0000487274" "02192" "ST3GAL3_000004" "g.44360096G>A" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.43894424G>A" "" "VUS" "" "0000188311" "0" "50" "1" "44360114" "44360114" "subst" "0.000280185" "02192" "ST3GAL3_000005" "g.44360114G>A" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs201287443" "0" "" "" "g.43894442G>A" "" "VUS" "" "0000248917" "0" "10" "1" "44290530" "44290530" "subst" "0.288717" "02325" "ST3GAL3_000008" "g.44290530A>G" "" "" "" "ST3GAL3(NM_174963.5):c.382A>G (p.T128A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43824858A>G" "" "benign" "" "0000248976" "0" "10" "1" "44386615" "44386615" "subst" "0.881709" "02325" "ST3GAL3_000003" "g.44386615A>G" "" "" "" "ST3GAL3(NM_174963.5):c.1245+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43920943A>G" "" "benign" "" "0000311575" "0" "10" "1" "44395786" "44395786" "subst" "0.676671" "02325" "ST3GAL3_000011" "g.44395786C>T" "" "" "" "ST3GAL3(NM_174963.5):c.1246-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43930114C>T" "" "benign" "" "0000311576" "0" "30" "1" "44365273" "44365273" "subst" "0.00157624" "02325" "ST3GAL3_000010" "g.44365273C>T" "" "" "" "ST3GAL3(NM_001350621.1):c.339C>T (p.R113=), ST3GAL3(NM_174963.5):c.825C>T (p.R275=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43899601C>T" "" "likely benign" "" "0000314155" "0" "30" "1" "44202061" "44202061" "subst" "0.000909578" "02326" "ST3GAL3_000007" "g.44202061G>C" "" "" "" "ST3GAL3(NM_001350619.1):c.128G>C (p.S43T), ST3GAL3(NM_174963.5):c.128G>C (p.S43T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43736390G>C" "" "likely benign" "" "0000314156" "0" "30" "1" "44363900" "44363900" "subst" "0.00250807" "02326" "ST3GAL3_000009" "g.44363900T>C" "" "" "" "ST3GAL3(NM_174963.5):c.605-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43898228T>C" "" "likely benign" "" "0000320777" "0" "50" "1" "44169743" "44169743" "subst" "0" "01804" "KDM4A_000001" "g.44169743C>T" "" "" "" "KDM4A(NM_014663.2):c.3014C>T (p.(Thr1005Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43704072C>T" "" "VUS" "" "0000320778" "0" "50" "1" "44395844" "44395844" "subst" "0.000735151" "01804" "ST3GAL3_000012" "g.44395844G>A" "" "" "" "ST3GAL3(NM_001270459.1):c.989G>A (p.(Arg330Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43930172G>A" "" "VUS" "" "0000338110" "0" "10" "1" "44386615" "44386615" "subst" "0.881709" "02327" "ST3GAL3_000003" "g.44386615A>G" "" "" "" "ST3GAL3(NM_174963.5):c.1245+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43920943A>G" "" "benign" "" "0000357719" "3" "90" "1" "44386520" "44386520" "subst" "0" "01912" "ST3GAL3_000013" "g.44386520G>C" "" "{PMID:Edvardson 2013:23252400 }" "" "958G>C (Ala320Pro)" "" "Germline" "yes" "" "0" "" "" "g.43920848G>C" "" "pathogenic" "" "0000357720" "3" "90" "1" "44201971" "44201971" "subst" "0" "01912" "ST3GAL3_000014" "g.44201971C>A" "" "{PMID:Hu 2011:21907012 }" "" "NM_006279.2:c.38C>A" "" "Germline" "yes" "" "0" "" "" "g.43736300C>A" "" "pathogenic" "" "0000357721" "3" "90" "1" "44395873" "44395873" "subst" "0" "01912" "ST3GAL3_000015" "g.44395873G>T" "" "{PMID:Hu 2011:21907012}" "" "NM_006279.2:c.1108G>T (Asp370Tyr)" "" "Germline" "yes" "" "0" "" "" "g.43930201G>T" "" "pathogenic" "" "0000507599" "0" "30" "1" "44365273" "44365273" "subst" "0.00157624" "02326" "ST3GAL3_000010" "g.44365273C>T" "" "" "" "ST3GAL3(NM_001350621.1):c.339C>T (p.R113=), ST3GAL3(NM_174963.5):c.825C>T (p.R275=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43899601C>T" "" "likely benign" "" "0000507600" "0" "70" "1" "44386520" "44386520" "subst" "0" "02327" "ST3GAL3_000013" "g.44386520G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43920848G>C" "" "likely pathogenic" "" "0000507602" "0" "30" "1" "44395863" "44395863" "subst" "0.000012185" "01943" "ARTN_000002" "g.44395863C>T" "" "" "" "ST3GAL3(NM_174965.3):c.502C>T (p.R168C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43930191C>T" "" "likely benign" "" "0000620644" "0" "50" "1" "44386113" "44386113" "subst" "0.0000812328" "01943" "ST3GAL3_000016" "g.44386113G>A" "" "" "" "ST3GAL3(NM_001350621.1):c.503G>A (p.R168Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43920441G>A" "" "VUS" "" "0000630988" "3" "70" "1" "44395811" "44395811" "subst" "0.00000406306" "03388" "ST3GAL3_000017" "g.44395811C>T" "" "{PMID:Farajollahi 2020:32666583}" "" "NM_001270461.1:c.704C>T" "" "Germline" "yes" "" "0" "" "" "g.43930139C>T" "" "likely pathogenic" "" "0000688185" "0" "50" "1" "44360114" "44360114" "subst" "0.000280185" "01943" "ST3GAL3_000005" "g.44360114G>A" "" "" "" "ST3GAL3(NM_001350621.1):c.83G>A (p.R28Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717517" "0" "30" "1" "44202061" "44202061" "subst" "0.000909578" "01943" "ST3GAL3_000007" "g.44202061G>C" "" "" "" "ST3GAL3(NM_001350619.1):c.128G>C (p.S43T), ST3GAL3(NM_174963.5):c.128G>C (p.S43T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717518" "0" "50" "1" "44387304" "44387304" "subst" "0" "01943" "ST3GAL3_000018" "g.44387304T>C" "" "" "" "ST3GAL3(NM_001350621.1):c.949T>C (p.C317R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000787574" "3" "50" "1" "44386170" "44386170" "subst" "0" "00000" "ST3GAL3_000019" "g.44386170C>T" "" "0" "" "" "" "Germline" "" "rs1201878175" "0" "" "" "g.43920498C>T" "" "VUS" "" "0000799378" "0" "50" "1" "44360055" "44360055" "subst" "0.0000284245" "01943" "ST3GAL3_000020" "g.44360055G>T" "" "" "" "ST3GAL3(NM_001350621.1):c.24G>T (p.R8S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799379" "0" "30" "1" "44365273" "44365273" "subst" "0.00157624" "01943" "ST3GAL3_000010" "g.44365273C>T" "" "" "" "ST3GAL3(NM_001350621.1):c.339C>T (p.R113=), ST3GAL3(NM_174963.5):c.825C>T (p.R275=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799380" "0" "30" "1" "44365291" "44365291" "subst" "0.00453356" "01943" "ST3GAL3_000021" "g.44365291C>T" "" "" "" "ST3GAL3(NM_001350621.1):c.357C>T (p.G119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ST3GAL3 ## Count = 30 "{{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}}" "0000002249" "00020373" "00" "163" "7418" "163" "7418" "c.163+7418del" "r.(=)" "p.(=)" "" "0000003430" "00020373" "00" "1245" "15" "1245" "15" "c.1245+15A>G" "r.(=)" "p.(=)" "" "0000010294" "00020373" "00" "163" "7415" "163" "7415" "c.163+7415del" "r.(=)" "p.(=)" "" "0000188117" "00020373" "00" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Arg423*)" "" "0000188134" "00020373" "00" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Arg184His)" "" "0000188311" "00020373" "00" "569" "0" "569" "0" "c.569G>A" "r.(?)" "p.(Arg190Gln)" "" "0000248917" "00020373" "10" "382" "0" "382" "0" "c.382A>G" "r.(?)" "p.(Thr128Ala)" "" "0000248976" "00020373" "10" "1245" "15" "1245" "15" "c.1245+15A>G" "r.(=)" "p.(=)" "" "0000311575" "00020373" "10" "1246" "-18" "1246" "-18" "c.1246-18C>T" "r.(=)" "p.(=)" "" "0000311576" "00020373" "30" "825" "0" "825" "0" "c.825C>T" "r.(?)" "p.(Arg275=)" "" "0000314155" "00020373" "30" "128" "0" "128" "0" "c.128G>C" "r.(?)" "p.(Ser43Thr)" "" "0000314156" "00020373" "30" "605" "-7" "605" "-7" "c.605-7T>C" "r.(=)" "p.(=)" "" "0000320777" "00020373" "50" "-3652" "0" "-3652" "0" "c.-3652C>T" "r.(?)" "p.(=)" "" "0000320778" "00020373" "50" "1286" "0" "1286" "0" "c.1286G>A" "r.(?)" "p.(Arg429Gln)" "" "0000338110" "00020373" "10" "1245" "15" "1245" "15" "c.1245+15A>G" "r.(=)" "p.(=)" "" "0000357719" "00020373" "90" "1165" "0" "1165" "0" "c.1165G>C" "r.(?)" "p.(Ala389Pro)" "12" "0000357720" "00020373" "90" "38" "0" "38" "0" "c.38C>A" "r.(?)" "p.(Ala13Asp)" "2" "0000357721" "00020373" "90" "1315" "0" "1315" "0" "c.1315G>T" "r.(?)" "p.(Asp439Tyr)" "13" "0000507599" "00020373" "30" "825" "0" "825" "0" "c.825C>T" "r.(?)" "p.(Arg275=)" "" "0000507600" "00020373" "70" "1165" "0" "1165" "0" "c.1165G>C" "r.(?)" "p.(Ala389Pro)" "" "0000507602" "00020373" "30" "1305" "0" "1305" "0" "c.1305C>T" "r.(?)" "p.(Arg435=)" "" "0000620644" "00020373" "50" "989" "0" "989" "0" "c.989G>A" "r.(?)" "p.(Arg330Gln)" "" "0000630988" "00020373" "70" "1253" "0" "1253" "0" "c.1253C>T" "r.(?)" "p.(Thr418Met)" "" "0000688185" "00020373" "50" "569" "0" "569" "0" "c.569G>A" "r.(?)" "p.(Arg190Gln)" "" "0000717517" "00020373" "30" "128" "0" "128" "0" "c.128G>C" "r.(?)" "p.(Ser43Thr)" "" "0000717518" "00020373" "50" "1245" "704" "1245" "704" "c.1245+704T>C" "r.(=)" "p.(=)" "" "0000787574" "00020373" "50" "1046" "0" "1046" "0" "c.1046C>T" "r.(?)" "p.(Ala349Val)" "12" "0000799378" "00020373" "50" "510" "0" "510" "0" "c.510G>T" "r.(?)" "p.(Arg170=)" "" "0000799379" "00020373" "30" "825" "0" "825" "0" "c.825C>T" "r.(?)" "p.(Arg275=)" "" "0000799380" "00020373" "30" "843" "0" "843" "0" "c.843C>T" "r.(?)" "p.(Gly281=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002249" "0000000209" "0000003430" "0000000210" "0000010294" "0000117272" "0000188117" "0000117289" "0000188134" "0000117466" "0000188311" "0000155887" "0000357719" "0000155888" "0000357720" "0000155889" "0000357721" "0000276840" "0000630988" "0000375882" "0000787574"