### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC39A14) # 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}}" "SLC39A14" "solute carrier family 39 (zinc transporter), member 14" "8" "p21.2" "unknown" "NG_054890.1" "UD_132439489889" "" "https://www.LOVD.nl/SLC39A14" "" "1" "20858" "23516" "608736" "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/SLC39A14_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-02-22 09:31:27" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00019333" "SLC39A14" "transcript variant 1" "003" "NM_001128431.2" "" "NP_001121903.1" "" "" "" "-175" "4517" "1479" "22224762" "22280249" "" "0000-00-00 00:00:00" "" "" "00025500" "SLC39A14" "transcript variant 2" "002" "NM_015359.4" "" "NP_056174.2" "" "" "" "-175" "4517" "1479" "22224762" "22280249" "00006" "2020-03-28 03:13:57" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "2024-11-23 09:38:12" "04503" "DYT2" "dystonia, type 2, torsion, autosomal recessive (DYT-2)" "AR" "224500" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05698" "HMNDYT2" "hypermanganesemia with dystonia, type 2 (HMNDYT2)" "AR" "617013" "" "" "" "00006" "2020-02-22 09:39:43" "" "" "05700" "HCIN" "hyperostosis cranialis interna (HCIN)" "AD" "144755" "" "" "" "00006" "2020-02-22 10:08:09" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SLC39A14" "05698" "SLC39A14" "05700" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00288790" "" "" "" "1" "" "03599" "" "" "M" "yes" "(Libya)" "05y" "0" "" "Disodium calcium edetate" "white" "male" "00288832" "" "" "" "2" "" "00006" "{PMID:Tuschl 2016:27231142}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "Yemen" "" "0" "" "" "yes" "FamA" "00288833" "" "" "" "2" "" "00006" "{PMID:Tuschl 2016:27231142}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "Egypt" "" "0" "" "" "yes" "FamB" "00288834" "" "" "" "1" "" "00006" "{PMID:Tuschl 2016:27231142}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "India" "" "0" "" "" "yes" "FamC" "00288835" "" "" "" "1" "" "00006" "{PMID:Tuschl 2016:27231142}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Spain" "" "0" "" "" "yes" "FamD" "00288836" "" "" "" "3" "" "00006" "{PMID:Tuschl 2016:27231142}" "2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents" "F;M" "" "Lebanon" "" "0" "" "" "yes" "FamE" "00288837" "" "" "" "9" "" "00006" "{PMID:Hendrickx 2018:29621230}, {PMID:Manni 1990:2300107}" "4-generation family, 9 affected (6F, 3M)" "F;M" "no" "Netherlands" "" "0" "" "" "" "family" "00288838" "" "" "" "2" "" "00006" "{PMID:Marti-Sanchez 2018:29382362}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "Senegal" "" "0" "" "" "" "Family" "00288839" "" "" "" "1" "" "00006" "{PMID:Juneja 2018:29498153}" "32-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "no" "India" "" "0" "" "" "" "family" "00288840" "" "" "" "1" "" "00006" "{PMID:Rodan 2018:29685658}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "United Arab Emirates" "" "0" "" "" "" "FamPatIV3" "00288841" "" "" "" "1" "" "00006" "{PMID:Rodan 2018:29685658}" "" "F" "" "United Arab Emirates" "" "0" "" "" "" "Pat2" "00288842" "" "" "" "1" "" "00006" "{PMID:Zeglam 2019:30232769}" "" "F" "" "Libya" "" "0" "" "" "" "patient" "00295870" "" "" "" "1" "" "03599" "" "" "M" "yes" "Libya" "06y" "0" "" "" "white" "" "00361538" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "simplex case" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "14DG0924" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00288790" "04503" "00288832" "00198" "00288833" "00198" "00288834" "00198" "00288835" "00198" "00288836" "00198" "00288837" "05700" "00288838" "00198" "00288839" "00198" "00288840" "00198" "00288841" "00198" "00288842" "00198" "00295870" "05698" "00361538" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 04503, 05698, 05700 ## Count = 15 "{{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}}" "0000222494" "04503" "00288790" "03599" "Familial, autosomal recessive" "03y" "stiff,Global developmental delay" "01y" "05y" "" "" "" "" "" "" "Dystonia" "$ limbs spastic cerebral palsy" "" "0000222537" "00198" "00288832" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HMNDYT2" "" "" "0000222538" "00198" "00288833" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HMNDYT2" "" "" "0000222539" "00198" "00288834" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HMNDYT2" "" "" "0000222540" "00198" "00288835" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HMNDYT2" "" "" "0000222541" "00198" "00288836" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HMNDYT2" "" "" "0000222542" "05700" "00288837" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "HCIN" "hyperostosis cranialis interna" "" "0000222543" "00198" "00288838" "00006" "Familial, autosomal recessive" "" "see paper; ..., dystonia, hypermanganesemia" "" "" "" "" "" "" "" "" "HMNDYT2" "dystonia, hypermanganesemia" "" "0000222544" "00198" "00288839" "00006" "Familial, autosomal recessive" "" "see paper, ..., progressive" "" "" "" "" "" "" "" "" "HMNDYT2" "neurodegeneration" "" "0000222545" "00198" "00288840" "00006" "Familial, autosomal recessive" "" "see paper; ..., progressive movement disorder, brain mineralization" "" "" "" "" "" "" "" "" "HMNDYT2" "" "" "0000222546" "00198" "00288841" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HMNDYT2" "progressive movement disorder" "" "0000222547" "00198" "00288842" "00006" "Familial, autosomal recessive" "03y" "see paper; ..., unstable gait, stiff muscle" "" "" "" "" "" "" "" "" "HMNDYT2" "" "" "0000223293" "04503" "00288790" "03599" "Familial, autosomal recessive" "05y" "generalized dystonia" "03y" "03y" "03y" "none" "" "" "" "" "hypermanganesemia" "spastic cerebral palsy" "" "0000223347" "05698" "00295870" "03599" "Familial, autosomal recessive" "01y" "increased muscle tone,microcephaly,global developmental delay,profound physical disability." "00y08m" "05y" "increased muscle tone" "" "" "" "" "" "Hypermanganesemia" "4 limbs spastic cerebral palsy,Neuroferritinopathy" "" "0000256943" "00139" "00361538" "00006" "Familial, autosomal recessive" "2y" "not syndromic; neurodegeneration" "" "" "" "" "" "" "" "" "" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000289958" "00288790" "1" "03599" "03599" "2020-02-21 17:14:01" "" "" "SEQ" "DNA" "" "" "0000290000" "00288832" "1" "00006" "00006" "2020-02-22 10:03:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290001" "00288833" "1" "00006" "00006" "2020-02-22 10:03:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290002" "00288834" "1" "00006" "00006" "2020-02-22 10:03:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290003" "00288835" "1" "00006" "00006" "2020-02-22 10:03:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290004" "00288836" "1" "00006" "00006" "2020-02-22 10:03:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290005" "00288837" "1" "00006" "00006" "2020-02-22 10:13:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290006" "00288838" "1" "00006" "00006" "2020-02-22 14:25:41" "00006" "2020-02-22 14:28:38" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000290007" "00288839" "1" "00006" "00006" "2020-02-22 14:33:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290008" "00288840" "1" "00006" "00006" "2020-02-22 14:41:13" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290009" "00288841" "1" "00006" "00006" "2020-02-22 14:47:14" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000290010" "00288842" "1" "00006" "00006" "2020-02-22 14:52:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297042" "00295870" "1" "03599" "03599" "2020-03-29 20:33:13" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000362766" "00361538" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{geneid}}" "0000289958" "SLC39A14" "0000290000" "SLC39A14" "0000290001" "SLC39A14" "0000290002" "SLC39A14" "0000290003" "SLC39A14" "0000290004" "SLC39A14" "0000290005" "SLC39A14" "0000290006" "SLC39A14" "0000290007" "SLC30A10" "0000290007" "SLC39A14" "0000290008" "SLC39A14" "0000290009" "SLC39A14" "0000290010" "SLC39A14" "0000297042" "SLC39A14" "0000362766" "SLC39A14" ## 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 = 40 "{{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}}" "0000308445" "0" "30" "8" "22265818" "22265818" "subst" "0.000682067" "01943" "SLC39A14_000001" "g.22265818T>C" "" "" "" "SLC39A14(NM_001135153.2):c.271-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22408305T>C" "" "likely benign" "" "0000308446" "0" "30" "8" "22269600" "22269600" "subst" "8.72436E-5" "01943" "SLC39A14_000002" "g.22269600C>G" "" "" "" "SLC39A14(NM_001135153.2):c.508C>G (p.L170V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22412087C>G" "" "likely benign" "" "0000308447" "0" "30" "8" "22273278" "22273278" "subst" "0.00361462" "01943" "SLC39A14_000003" "g.22273278C>A" "" "" "" "SLC39A14(NM_001135153.2):c.751-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22415765C>A" "" "likely benign" "" "0000534579" "0" "30" "8" "22262320" "22262320" "subst" "0" "01943" "SLC39A14_000004" "g.22262320C>A" "" "" "" "SLC39A14(NM_001135153.2):c.97C>A (p.L33M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22404807C>A" "" "likely benign" "" "0000534580" "0" "50" "8" "22269540" "22269540" "subst" "0" "01943" "SLC39A14_000005" "g.22269540C>T" "" "" "" "SLC39A14(NM_001135153.2):c.458-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22412027C>T" "" "VUS" "" "0000534581" "0" "30" "8" "22269695" "22269695" "subst" "3.32491E-5" "01943" "SLC39A14_000006" "g.22269695C>T" "" "" "" "SLC39A14(NM_001135153.2):c.603C>T (p.N201=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22412182C>T" "" "likely benign" "" "0000534582" "0" "30" "8" "22272361" "22272361" "subst" "0.0025269" "01943" "SLC39A14_000007" "g.22272361T>C" "" "" "" "SLC39A14(NM_001135153.2):c.696T>C (p.Y232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22414848T>C" "" "likely benign" "" "0000534583" "0" "50" "8" "22273369" "22273369" "subst" "0.000228177" "01943" "SLC39A14_000008" "g.22273369G>A" "" "" "" "SLC39A14(NM_001135153.2):c.838G>A (p.G280R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22415856G>A" "" "VUS" "" "0000534584" "0" "30" "8" "22273645" "22273645" "subst" "0.000142141" "01943" "SLC39A14_000009" "g.22273645C>T" "" "" "" "SLC39A14(NM_001351660.1):c.999C>T (p.I333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22416132C>T" "" "likely benign" "" "0000534585" "0" "30" "8" "22273678" "22273678" "subst" "0.000272097" "01943" "SLC39A14_000010" "g.22273678C>T" "" "" "" "SLC39A14(NM_001135153.2):c.1032C>T (p.D344=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22416165C>T" "" "likely benign" "" "0000534586" "0" "50" "8" "22273752" "22273752" "subst" "0" "01943" "SLC39A14_000011" "g.22273752C>T" "" "" "" "SLC39A14(NM_001135153.2):c.1106C>T (p.T369I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22416239C>T" "" "VUS" "" "0000534587" "0" "50" "8" "22277207" "22277207" "subst" "0.000290631" "01943" "SLC39A14_000012" "g.22277207G>A" "" "" "" "SLC39A14(NM_001128431.4):c.1475G>A (p.(Gly492Glu)), SLC39A14(NM_001135153.2):c.1475G>A (p.G492E), SLC39A14(NM_015359.6):c.1475G>A (p.G492E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22419694G>A" "" "VUS" "" "0000534588" "0" "30" "8" "22291422" "22291422" "subst" "0.000389978" "01943" "SLC39A14_000013" "g.22291422G>C" "" "" "" "SLC39A14(NM_001135154.2):c.1351G>C (p.A451P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22433909G>C" "" "likely benign" "" "0000611592" "0" "30" "8" "22275154" "22275154" "subst" "0.000297526" "01943" "SLC39A14_000014" "g.22275154G>A" "" "" "" "SLC39A14(NM_001351660.1):c.1148-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22417641G>A" "" "likely benign" "" "0000645980" "3" "90" "8" "22267478" "22267479" "del" "0" "03599" "SLC39A14_000020" "g.22267478_22267479del" "" "" "" "" "variant description to be checked" "Germline" "" "" "0" "" "" "g.22409965_22409966del" "" "pathogenic (recessive)" "" "0000645981" "3" "90" "8" "22265844" "22265844" "subst" "0" "00006" "SLC39A14_000021" "g.22265844T>G" "" "{PMID:Tuschl 2016:27231142}" "" "" "" "Germline" "yes" "" "0" "" "" "g.22408331T>G" "" "pathogenic (recessive)" "" "0000645982" "3" "90" "8" "22265865" "22265865" "subst" "0" "00006" "SLC39A14_000022" "g.22265865G>T" "" "{PMID:Tuschl 2016:27231142}" "" "" "" "Germline" "yes" "" "0" "" "" "g.22408352G>T" "" "pathogenic (recessive)" "" "0000645983" "3" "90" "8" "22267478" "22267479" "del" "0" "00006" "SLC39A14_000023" "g.22267478_22267479del" "" "{PMID:Tuschl 2016:27231142}" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.22409965_22409966del" "" "pathogenic (recessive)" "" "0000645984" "3" "90" "8" "22273793" "22273793" "subst" "0" "00006" "SLC39A14_000024" "g.22273793G>A" "" "{PMID:Tuschl 2016:27231142}" "" "" "" "Germline" "" "" "0" "" "" "g.22416280G>A" "" "pathogenic (recessive)" "" "0000645985" "3" "90" "8" "22277139" "22277139" "subst" "0" "00006" "SLC39A14_000025" "g.22277139C>G" "" "{PMID:Tuschl 2016:27231142}" "" "" "" "Germline" "yes" "" "0" "" "" "g.22419626C>G" "" "pathogenic (recessive)" "" "0000645986" "1" "90" "8" "22275338" "22275338" "subst" "0" "00006" "SLC39A14_000015" "g.22275338T>G" "" "{PMID:Hendrickx 2018:29621230}" "" "" "" "Germline" "yes" "" "0" "" "" "g.22417825T>G" "" "pathogenic (dominant)" "" "0000645987" "3" "90" "8" "22265863" "22265863" "subst" "0" "00006" "SLC39A14_000016" "g.22265863G>T" "" "{PMID:Marti-Sanchez 2018:29382362}" "" "" "" "Germline" "yes" "" "0" "" "" "g.22408350G>T" "" "pathogenic (recessive)" "" "0000645988" "3" "90" "8" "22265934" "22265934" "subst" "0" "00006" "SLC39A14_000017" "g.22265934C>T" "" "{PMID:Juneja 2018:29498153}" "" "" "" "Germline" "" "" "0" "" "" "g.22408421C>T" "" "pathogenic (recessive)" "" "0000645989" "3" "90" "8" "22273273" "22273273" "subst" "0" "00006" "SLC39A14_000018" "g.22273273C>G" "" "{PMID:Rodan 2018:29685658}" "" "" "significantly decreased transcript levels" "Germline" "" "" "0" "" "" "g.22415760C>G" "" "pathogenic (recessive)" "" "0000645990" "3" "90" "8" "22273273" "22273273" "subst" "0" "00006" "SLC39A14_000018" "g.22273273C>G" "" "{PMID:Rodan 2018:29685658}" "" "" "" "Germline" "" "" "0" "" "" "g.22415760C>G" "" "pathogenic (recessive)" "" "0000645991" "3" "90" "8" "22273782" "22273782" "subst" "0" "00006" "SLC39A14_000019" "g.22273782C>T" "" "{PMID:Zeglam 2019:30232769}" "" "" "" "Germline" "" "" "0" "" "" "g.22416269C>T" "" "pathogenic (recessive)" "" "0000659652" "3" "70" "8" "22262300" "22262300" "dup" "0" "03599" "SLC39A14_000026" "g.22262300dup" "has not been documented" "" "" "77dupC" "" "Germline" "yes" "" "0" "" "" "g.22404787dup" "" "pathogenic (recessive)" "" "0000721944" "0" "30" "8" "22269716" "22269716" "subst" "4.6686E-5" "01943" "SLC39A14_000027" "g.22269716G>A" "" "" "" "SLC39A14(NM_001351660.1):c.624G>A (p.P208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000763140" "3" "90" "8" "22265865" "22265865" "subst" "0" "00006" "SLC39A14_000022" "g.22265865G>T" "" "{PMID:Anazi 2017:27431290}" "" "" "" "Germline" "" "" "0" "" "" "g.22408352G>T" "" "pathogenic" "" "0000803599" "0" "10" "8" "22262237" "22262242" "del" "0" "02329" "SLC39A14_000028" "g.22262237_22262242del" "" "" "" "SLC39A14(NM_001351660.2):c.14_19delTGCTGC (p.L5_L6del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803600" "0" "10" "8" "22262321" "22262321" "subst" "0.525324" "02329" "SLC39A14_000029" "g.22262321T>C" "" "" "" "SLC39A14(NM_001351660.2):c.98T>C (p.L33P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803601" "0" "10" "8" "22262379" "22262379" "subst" "0.1766" "02329" "SLC39A14_000030" "g.22262379C>T" "" "" "" "SLC39A14(NM_001351660.2):c.156C>T (p.G52=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803602" "0" "10" "8" "22262418" "22262418" "subst" "0.547774" "02329" "SLC39A14_000031" "g.22262418A>G" "" "" "" "SLC39A14(NM_001351660.2):c.195A>G (p.L65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803603" "0" "30" "8" "22272306" "22272306" "subst" "0" "01943" "SLC39A14_000032" "g.22272306A>G" "" "" "" "SLC39A14(NM_001351660.1):c.641A>G (p.N214S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888309" "0" "10" "8" "22273478" "22273478" "subst" "0.0179252" "02329" "SLC39A14_000033" "g.22273478G>C" "" "" "" "SLC39A14(NM_001351660.2):c.939+8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888310" "0" "10" "8" "22273687" "22273687" "subst" "0.120414" "02329" "SLC39A14_000034" "g.22273687T>C" "" "" "" "SLC39A14(NM_001351660.2):c.1041T>C (p.H347=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000997111" "0" "50" "8" "22277207" "22277207" "subst" "0.000290631" "02325" "SLC39A14_000012" "g.22277207G>A" "" "" "" "SLC39A14(NM_001128431.4):c.1475G>A (p.(Gly492Glu)), SLC39A14(NM_001135153.2):c.1475G>A (p.G492E), SLC39A14(NM_015359.6):c.1475G>A (p.G492E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014437" "0" "50" "8" "22265965" "22265965" "subst" "0" "02325" "SLC39A14_000035" "g.22265965A>G" "" "" "" "SLC39A14(NM_015359.6):c.413A>G (p.E138G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036917" "0" "50" "8" "22277207" "22277207" "subst" "0.000290631" "01804" "SLC39A14_000012" "g.22277207G>A" "" "" "" "SLC39A14(NM_001128431.4):c.1475G>A (p.(Gly492Glu)), SLC39A14(NM_001135153.2):c.1475G>A (p.G492E), SLC39A14(NM_015359.6):c.1475G>A (p.G492E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052974" "0" "50" "8" "22273704" "22273704" "subst" "0" "01804" "SLC39A14_000036" "g.22273704T>G" "" "" "" "SLC39A14(NM_001128431.4):c.1058T>G (p.(Leu353Arg))" "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 SLC39A14 ## Count = 68 "{{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}}" "0000308445" "00019333" "30" "271" "-5" "271" "-5" "c.271-5T>C" "r.spl?" "p.?" "" "0000308445" "00025500" "30" "271" "-5" "271" "-5" "c.271-5T>C" "r.spl?" "p.?" "" "0000308446" "00019333" "30" "508" "0" "508" "0" "c.508C>G" "r.(?)" "p.(Leu170Val)" "" "0000308446" "00025500" "30" "627" "1972" "627" "1972" "c.627+1972C>G" "r.(=)" "p.(=)" "" "0000308447" "00019333" "30" "751" "-4" "751" "-4" "c.751-4C>A" "r.spl?" "p.?" "" "0000308447" "00025500" "30" "751" "-4" "751" "-4" "c.751-4C>A" "r.spl?" "p.?" "" "0000534579" "00019333" "30" "97" "0" "97" "0" "c.97C>A" "r.(?)" "p.(Leu33Met)" "" "0000534579" "00025500" "30" "97" "0" "97" "0" "c.97C>A" "r.(?)" "p.(Leu33Met)" "" "0000534580" "00019333" "50" "458" "-10" "458" "-10" "c.458-10C>T" "r.(=)" "p.(=)" "" "0000534580" "00025500" "50" "627" "1912" "627" "1912" "c.627+1912C>T" "r.(=)" "p.(=)" "" "0000534581" "00019333" "30" "603" "0" "603" "0" "c.603C>T" "r.(?)" "p.(Asn201=)" "" "0000534581" "00025500" "30" "627" "2067" "627" "2067" "c.627+2067C>T" "r.(=)" "p.(=)" "" "0000534582" "00019333" "30" "696" "0" "696" "0" "c.696T>C" "r.(?)" "p.(Tyr232=)" "" "0000534582" "00025500" "30" "696" "0" "696" "0" "c.696T>C" "r.(?)" "p.(Tyr232=)" "" "0000534583" "00019333" "50" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Gly280Arg)" "" "0000534583" "00025500" "50" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Gly280Arg)" "" "0000534584" "00019333" "30" "999" "0" "999" "0" "c.999C>T" "r.(?)" "p.(Ile333=)" "" "0000534584" "00025500" "30" "999" "0" "999" "0" "c.999C>T" "r.(?)" "p.(Ile333=)" "" "0000534585" "00019333" "30" "1032" "0" "1032" "0" "c.1032C>T" "r.(?)" "p.(Asp344=)" "" "0000534585" "00025500" "30" "1032" "0" "1032" "0" "c.1032C>T" "r.(?)" "p.(Asp344=)" "" "0000534586" "00019333" "50" "1106" "0" "1106" "0" "c.1106C>T" "r.(?)" "p.(Thr369Ile)" "" "0000534586" "00025500" "50" "1106" "0" "1106" "0" "c.1106C>T" "r.(?)" "p.(Thr369Ile)" "" "0000534587" "00019333" "50" "1475" "0" "1475" "0" "c.1475G>A" "r.(?)" "p.(Gly492Glu)" "" "0000534587" "00025500" "50" "1475" "0" "1475" "0" "c.1475G>A" "r.(?)" "p.(Gly492Glu)" "" "0000534588" "00019333" "30" "15690" "0" "15690" "0" "c.*14211G>C" "r.(=)" "p.(=)" "" "0000534588" "00025500" "30" "15690" "0" "15690" "0" "c.*14211G>C" "r.(=)" "p.(=)" "" "0000611592" "00019333" "30" "1148" "-10" "1148" "-10" "c.1148-10G>A" "r.(=)" "p.(=)" "" "0000611592" "00025500" "30" "1148" "-10" "1148" "-10" "c.1148-10G>A" "r.(=)" "p.(=)" "" "0000645980" "00019333" "50" "457" "1469" "457" "1470" "c.457+1469_457+1470del" "r.(=)" "p.(=)" "" "0000645980" "00025500" "90" "477" "0" "478" "0" "c.477_478del" "r.(?)" "p.(Ser160Cysfs*5)" "" "0000645981" "00019333" "90" "292" "0" "292" "0" "c.292T>G" "r.(?)" "p.(Phe98Val)" "" "0000645982" "00019333" "90" "313" "0" "313" "0" "c.313G>T" "r.(?)" "p.(Glu105*)" "" "0000645983" "00019333" "90" "477" "0" "478" "0" "c.477_478del" "r.(?)" "p.(Ser160Cysfs*5)" "" "0000645984" "00019333" "90" "1147" "0" "1147" "0" "c.1147G>A" "r.(?)" "p.(Gly383Arg)" "" "0000645985" "00019333" "90" "1407" "0" "1407" "0" "c.1407C>G" "r.(?)" "p.(Asn469Lys)" "" "0000645986" "00019333" "90" "1322" "0" "1322" "0" "c.1322T>G" "r.(?)" "p.(Leu441Arg)" "" "0000645987" "00019333" "90" "311" "0" "311" "0" "c.311G>T" "r.(?)" "p.(Ser104Ile)" "" "0000645988" "00019333" "90" "382" "0" "382" "0" "c.382C>T" "r.(?)" "p.(Arg128Trp)" "" "0000645989" "00019333" "90" "751" "-9" "751" "-9" "c.751-9C>G" "r.750_751ins[750+1_750-10;gcccuuccag]" "p.(=)" "" "0000645990" "00019333" "90" "751" "-9" "751" "-9" "c.751-9C>G" "r.spl" "p.(=)" "" "0000645991" "00019333" "90" "1136" "0" "1136" "0" "c.1136C>T" "r.(?)" "p.(Pro379Leu)" "" "0000659652" "00019333" "70" "77" "0" "77" "0" "c.77dup" "r.(?)" "p.(Glu27*)" "7" "0000659652" "00025500" "70" "77" "0" "77" "0" "c.77dup" "r.(?)" "p.(Glu27*)" "" "0000721944" "00019333" "30" "624" "0" "624" "0" "c.624G>A" "r.(?)" "p.(Pro208=)" "" "0000721944" "00025500" "30" "627" "2088" "627" "2088" "c.627+2088G>A" "r.(=)" "p.(=)" "" "0000763140" "00019333" "90" "313" "0" "313" "0" "c.313G>T" "r.(?)" "p.(Glu105*)" "" "0000803599" "00019333" "10" "14" "0" "19" "0" "c.14_19del" "r.(?)" "p.(Leu5_Leu6del)" "" "0000803599" "00025500" "10" "14" "0" "19" "0" "c.14_19del" "r.(?)" "p.(Leu5_Leu6del)" "" "0000803600" "00019333" "10" "98" "0" "98" "0" "c.98T>C" "r.(?)" "p.(Leu33Pro)" "" "0000803600" "00025500" "10" "98" "0" "98" "0" "c.98T>C" "r.(?)" "p.(Leu33Pro)" "" "0000803601" "00019333" "10" "156" "0" "156" "0" "c.156C>T" "r.(?)" "p.(Gly52=)" "" "0000803601" "00025500" "10" "156" "0" "156" "0" "c.156C>T" "r.(?)" "p.(Gly52=)" "" "0000803602" "00019333" "10" "195" "0" "195" "0" "c.195A>G" "r.(?)" "p.(Leu65=)" "" "0000803602" "00025500" "10" "195" "0" "195" "0" "c.195A>G" "r.(?)" "p.(Leu65=)" "" "0000803603" "00019333" "30" "641" "0" "641" "0" "c.641A>G" "r.(?)" "p.(Asn214Ser)" "" "0000803603" "00025500" "30" "641" "0" "641" "0" "c.641A>G" "r.(?)" "p.(Asn214Ser)" "" "0000888309" "00019333" "10" "939" "8" "939" "8" "c.939+8G>C" "r.(=)" "p.(=)" "" "0000888309" "00025500" "10" "939" "8" "939" "8" "c.939+8G>C" "r.(=)" "p.(=)" "" "0000888310" "00019333" "10" "1041" "0" "1041" "0" "c.1041T>C" "r.(?)" "p.(His347=)" "" "0000888310" "00025500" "10" "1041" "0" "1041" "0" "c.1041T>C" "r.(?)" "p.(His347=)" "" "0000997111" "00019333" "50" "1475" "0" "1475" "0" "c.1475G>A" "r.(?)" "p.(Gly492Glu)" "" "0000997111" "00025500" "50" "1475" "0" "1475" "0" "c.1475G>A" "r.(?)" "p.(Gly492Glu)" "" "0001014437" "00019333" "50" "413" "0" "413" "0" "c.413A>G" "r.(?)" "p.(Glu138Gly)" "" "0001014437" "00025500" "50" "413" "0" "413" "0" "c.413A>G" "r.(?)" "p.(Glu138Gly)" "" "0001036917" "00019333" "50" "1475" "0" "1475" "0" "c.1475G>A" "r.(?)" "p.(Gly492Glu)" "" "0001036917" "00025500" "50" "1475" "0" "1475" "0" "c.1475G>A" "r.(?)" "p.(Gly492Glu)" "" "0001052974" "00019333" "50" "1058" "0" "1058" "0" "c.1058T>G" "r.(?)" "p.(Leu353Arg)" "" "0001052974" "00025500" "50" "1058" "0" "1058" "0" "c.1058T>G" "r.(?)" "p.(Leu353Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000289958" "0000645980" "0000290000" "0000645981" "0000290001" "0000645982" "0000290002" "0000645983" "0000290003" "0000645984" "0000290004" "0000645985" "0000290005" "0000645986" "0000290006" "0000645987" "0000290007" "0000645988" "0000290008" "0000645989" "0000290009" "0000645990" "0000290010" "0000645991" "0000297042" "0000659652" "0000362766" "0000763140"