### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CLDN14) # 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}}" "CLDN14" "claudin 14" "21" "q22.3" "unknown" "NG_011777.1" "UD_132084417988" "" "https://www.LOVD.nl/CLDN14" "Deafness Variation Database \r\nMoBiDiC " "1" "2035" "23562" "605608" "1" "1" "1" "1" "The database is curated by the Montpellier Usher group.
You can directly access the CLDN14 database using: www.LOVD.nl/CLDN14
If you wish to perform particular analyses, please do not hesitate to contact us. We hope that you will find these databases useful!
This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/CLDN14_codingDNA.html" "1" "" "
\r\nThis database is one of the ”Retinal and hearing impairment genetic variant databases”." "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00110" "2018-07-20 14:28:08" "00006" "2025-10-16 12:16:42" ## 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}}" "00024163" "CLDN14" "transcript variant 3" "001" "NM_001146077.1" "" "NP_001139549.1" "" "" "" "-378" "1075" "720" "37948867" "37832919" "00006" "2016-09-05 17:19:57" "" "" ## 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}}" "00350" "DFNA1" "deafness, autosomal dominant, type 1" "AD" "124900" "" "" "" "00081" "2014-03-13 13:45:31" "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" "03523" "DFNB29" "deafness, autosomal recessive, type 29 (DFNB-29)" "AR" "614035" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05362" "LIS" "lissencephaly" "" "" "" "" "" "00006" "2017-12-29 12:16:43" "00006" "2023-11-27 09:41:55" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CLDN14" "03523" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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" "" "" "" "" "00327063" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00327381" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00441183" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4101" "00441184" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4210" "00441185" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF958" "00441186" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1660" "00441642" "" "" "" "10" "" "00006" "{PMID:Wilcox 2001:11163249}, {PMID:Naz 2017:27573290}" "family, 10 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLRB5" "00441643" "" "" "" "4" "" "00006" "{PMID:Wilcox 2001:11163249}, {PMID:Naz 2017:27573290}" "family, 4 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLAM04" "00441644" "" "" "" "9" "" "00006" "{PMID:Wilcox 2001:11163249}, {PMID:Naz 2017:27573290}" "family, 9 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLAM11" "00467522" "" "" "" "1" "" "04656" "{PMID:Khan 2024:39271758}, {DOI:Khan 2024:10.1038/s41598-024-71407-1}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "" "HLMS34" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00327063" "00350" "00327381" "00350" "00441183" "05086" "00441184" "05086" "00441185" "05086" "00441186" "05086" "00441642" "05086" "00441643" "05086" "00441644" "05086" "00467522" "05362" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00350, 01157, 03523, 05086, 05362 ## Count = 10 "{{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}}" "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" "" "" "" "" "" "" "" "0000330623" "05086" "00441183" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "hearing loss" "0000330624" "05086" "00441184" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "hearing loss" "0000330625" "05086" "00441185" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "hearing loss" "0000330626" "05086" "00441186" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "hearing loss" "0000331051" "05086" "00441642" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "hearing loss" "0000331052" "05086" "00441643" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "hearing loss" "0000331053" "05086" "00441644" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "hearing loss" "0000352732" "05362" "00467522" "04656" "Familial, autosomal recessive" "" "moderate-severe hearing loss" "" "" "" "" "" "" "" "DFNB29" "hearing loss" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{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" "" "" "0000328278" "00327063" "1" "03611" "03611" "2021-01-20 03:30:45" "" "" "SEQ-NG-I" "DNA" "" "" "0000328593" "00327381" "1" "03611" "03611" "2021-01-20 09:08:51" "" "" "SEQ-NG-I" "DNA" "" "" "0000442669" "00441183" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442670" "00441184" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442671" "00441185" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442672" "00441186" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443128" "00441642" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443129" "00441643" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443130" "00441644" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469185" "00467522" "1" "04656" "00006" "2025-10-16 12:16:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## 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 = 38 "{{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}}" "0000002714" "3" "50" "21" "37886915" "37886918" "del" "0" "00037" "CLDN14_000007" "g.37886915_37886918del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.36514617_36514620del" "" "VUS" "" "0000002715" "3" "50" "21" "37932521" "37932521" "del" "0" "00037" "CLDN14_000003" "g.37932521del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.36560223del" "" "VUS" "" "0000006005" "3" "50" "21" "37886803" "37886803" "subst" "0" "00037" "CLDN14_000009" "g.37886803C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.36514505C>T" "" "VUS" "" "0000006006" "3" "50" "21" "37886989" "37886989" "subst" "0" "00037" "CLDN14_000008" "g.37886989A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.36514691A>G" "" "VUS" "" "0000006007" "3" "50" "21" "37921256" "37921256" "subst" "0" "00037" "CLDN14_000005" "g.37921256G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.36548958G>A" "" "VUS" "" "0000006008" "3" "50" "21" "37921319" "37921319" "subst" "0" "00037" "CLDN14_000006" "g.37921319G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.36549021G>A" "" "VUS" "" "0000006009" "3" "50" "21" "37931734" "37931734" "subst" "0" "00037" "CLDN14_000001" "g.37931734A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.36559436A>T" "" "VUS" "" "0000006010" "3" "50" "21" "37931985" "37931985" "subst" "0" "00037" "CLDN14_000002" "g.37931985G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.36559687G>T" "" "VUS" "" "0000006011" "3" "50" "21" "37932871" "37932871" "subst" "0" "00037" "CLDN14_000004" "g.37932871C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.36560573C>T" "" "VUS" "" "0000010719" "3" "50" "21" "37886915" "37886918" "del" "0" "00037" "CLDN14_000007" "g.37886915_37886918del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.36514617_36514620del" "" "VUS" "" "0000010720" "3" "50" "21" "37932521" "37932521" "del" "0" "00037" "CLDN14_000003" "g.37932521del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.36560223del" "" "VUS" "" "0000013952" "3" "50" "21" "37921319" "37921319" "subst" "0" "00037" "CLDN14_000006" "g.37921319G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.36549021G>A" "" "VUS" "" "0000013953" "3" "50" "21" "37931734" "37931734" "subst" "0" "00037" "CLDN14_000001" "g.37931734A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.36559436A>T" "" "VUS" "" "0000013954" "3" "50" "21" "37931985" "37931985" "subst" "0" "00037" "CLDN14_000002" "g.37931985G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.36559687G>T" "" "VUS" "" "0000013955" "3" "50" "21" "37932871" "37932871" "subst" "0" "00037" "CLDN14_000004" "g.37932871C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.36560573C>T" "" "VUS" "" "0000273599" "0" "30" "21" "37833469" "37833469" "subst" "2.03414E-5" "01943" "CLDN14_000010" "g.37833469G>A" "" "" "" "CLDN14(NM_144492.2):c.525C>T (p.L175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36461171G>A" "" "likely benign" "" "0000339932" "0" "10" "21" "37833751" "37833751" "subst" "0.212361" "02327" "CLDN14_000013" "g.37833751G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36461453G>A" "" "benign" "" "0000340998" "0" "10" "21" "37833307" "37833307" "subst" "0.162973" "02327" "CLDN14_000012" "g.37833307C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36461009C>T" "" "benign" "" "0000345893" "0" "90" "21" "37833300" "37833300" "subst" "0" "02327" "CLDN14_000011" "g.37833300C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36461002C>T" "" "pathogenic" "" "0000681714" "0" "30" "21" "37833304" "37833304" "subst" "0.00075349" "01943" "CLDN14_000014" "g.37833304G>A" "" "" "" "CLDN14(NM_144492.2):c.690C>T (p.H230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681715" "0" "30" "21" "37833472" "37833472" "subst" "0.000101761" "01943" "CLDN14_000015" "g.37833472C>T" "" "" "" "CLDN14(NM_144492.2):c.522G>A (p.S174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693043" "0" "50" "21" "37833699" "37833699" "subst" "5.75909E-5" "01943" "CLDN14_000016" "g.37833699C>T" "" "" "" "CLDN14(NM_144492.2):c.295G>A (p.V99I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000712224" "0" "50" "21" "37833987" "37833987" "del" "0" "03611" "CLDN14_000017" "g.37833987delC" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000712404" "0" "50" "21" "37833998" "37833998" "subst" "0" "03611" "CLDN14_000018" "g.37833998G>A" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000866627" "0" "50" "21" "37833752" "37833752" "subst" "2.04317E-5" "01943" "CLDN14_000019" "g.37833752C>T" "" "" "" "CLDN14(NM_144492.2):c.242G>A (p.R81H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000871769" "0" "50" "21" "37833911" "37833911" "subst" "1.36276E-5" "03779" "CLDN14_000020" "g.37833911G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs727504989" "0" "" "" "" "" "VUS" "" "0000871771" "0" "50" "21" "37833752" "37833752" "subst" "2.04317E-5" "03779" "CLDN14_000019" "g.37833752C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs368027306" "0" "" "" "" "" "VUS" "" "0000927078" "0" "50" "21" "37833279" "37833279" "subst" "3.27469E-5" "02327" "CLDN14_000021" "g.37833279C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000943996" "3" "90" "21" "37833740" "37833740" "subst" "2.04362E-5" "00006" "CLDN14_000022" "g.37833740A>T" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.36461442A>T" "" "pathogenic (recessive)" "" "0000943997" "3" "90" "21" "37833740" "37833740" "subst" "2.04362E-5" "00006" "CLDN14_000022" "g.37833740A>T" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.36461442A>T" "" "pathogenic (recessive)" "" "0000943998" "3" "90" "21" "37833740" "37833740" "subst" "2.04362E-5" "00006" "CLDN14_000022" "g.37833740A>T" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.36461442A>T" "" "pathogenic (recessive)" "" "0000943999" "3" "90" "21" "37833740" "37833740" "subst" "2.04362E-5" "00006" "CLDN14_000022" "g.37833740A>T" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.36461442A>T" "" "pathogenic (recessive)" "" "0000944510" "3" "90" "21" "37833740" "37833740" "subst" "2.04362E-5" "00006" "CLDN14_000022" "g.37833740A>T" "" "{PMID:Wilcox 2001:11163249}, {PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "rs74315437" "0" "" "" "g.36461442A>T" "" "pathogenic (recessive)" "" "0000944511" "3" "90" "21" "37833740" "37833740" "subst" "2.04362E-5" "00006" "CLDN14_000022" "g.37833740A>T" "" "{PMID:Wilcox 2001:11163249}, {PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "rs74315437" "0" "" "" "g.36461442A>T" "" "pathogenic (recessive)" "" "0000944512" "3" "90" "21" "37833740" "37833740" "subst" "2.04362E-5" "00006" "CLDN14_000022" "g.37833740A>T" "" "{PMID:Wilcox 2001:11163249}, {PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "rs74315437" "0" "" "" "g.36461442A>T" "" "pathogenic (recessive)" "" "0001005724" "0" "50" "21" "37833512" "37833512" "subst" "0" "02327" "CLDN14_000023" "g.37833512C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005725" "0" "70" "21" "37833713" "37833713" "subst" "0" "02327" "CLDN14_000024" "g.37833713G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001049381" "3" "90" "21" "37833740" "37833740" "subst" "2.04362E-5" "04656" "CLDN14_000022" "g.37833740A>T" "" "{PMID:Khan 2024:39271758}, {DOI:Khan 2024:10.1038/s41598-024-71407-1}" "" "" "ACMG PM2, PM3, PP3" "Germline" "" "" "0" "" "" "g.36461442A>T" "" "pathogenic (recessive)" "" ## 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 CLDN14 ## Count = 38 "{{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}}" "0000002714" "00024163" "00" "-219" "-4118" "-219" "-4115" "c.-219-4118_-219-4115del" "r.(=)" "p.(=)" "" "0000002715" "00024163" "00" "-220" "16189" "-220" "16189" "c.-220+16189del" "r.(=)" "p.(=)" "" "0000006005" "00024163" "00" "-219" "-4005" "-219" "-4005" "c.-219-4005G>A" "r.(=)" "p.(=)" "" "0000006006" "00024163" "00" "-219" "-4191" "-219" "-4191" "c.-219-4191T>C" "r.(=)" "p.(=)" "" "0000006007" "00024163" "00" "-220" "27453" "-220" "27453" "c.-220+27453C>T" "r.(=)" "p.(=)" "" "0000006008" "00024163" "00" "-220" "27390" "-220" "27390" "c.-220+27390C>T" "r.(=)" "p.(=)" "" "0000006009" "00024163" "00" "-220" "16975" "-220" "16975" "c.-220+16975T>A" "r.(=)" "p.(=)" "" "0000006010" "00024163" "00" "-220" "16724" "-220" "16724" "c.-220+16724C>A" "r.(=)" "p.(=)" "" "0000006011" "00024163" "00" "-220" "15838" "-220" "15838" "c.-220+15838G>A" "r.(=)" "p.(=)" "" "0000010719" "00024163" "00" "-219" "-4118" "-219" "-4115" "c.-219-4118_-219-4115del" "r.(=)" "p.(=)" "" "0000010720" "00024163" "00" "-220" "16189" "-220" "16189" "c.-220+16189del" "r.(=)" "p.(=)" "" "0000013952" "00024163" "00" "-220" "27390" "-220" "27390" "c.-220+27390C>T" "r.(=)" "p.(=)" "" "0000013953" "00024163" "00" "-220" "16975" "-220" "16975" "c.-220+16975T>A" "r.(=)" "p.(=)" "" "0000013954" "00024163" "00" "-220" "16724" "-220" "16724" "c.-220+16724C>A" "r.(=)" "p.(=)" "" "0000013955" "00024163" "00" "-220" "15838" "-220" "15838" "c.-220+15838G>A" "r.(=)" "p.(=)" "" "0000273599" "00024163" "30" "525" "0" "525" "0" "c.525C>T" "r.(?)" "p.(Leu175=)" "" "0000339932" "00024163" "10" "243" "0" "243" "0" "c.243C>T" "r.(?)" "p.(Arg81=)" "" "0000340998" "00024163" "10" "687" "0" "687" "0" "c.687G>A" "r.(?)" "p.(Thr229=)" "" "0000345893" "00024163" "90" "694" "0" "694" "0" "c.694G>A" "r.(?)" "p.(Gly232Arg)" "" "0000681714" "00024163" "30" "690" "0" "690" "0" "c.690C>T" "r.(?)" "p.(His230=)" "" "0000681715" "00024163" "30" "522" "0" "522" "0" "c.522G>A" "r.(?)" "p.(Ser174=)" "" "0000693043" "00024163" "50" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Val99Ile)" "" "0000712224" "00024163" "50" "6" "0" "6" "0" "c.6delC" "r.(?)" "p.(Ala2fs)" "" "0000712404" "00024163" "50" "-5" "0" "-5" "0" "c.-5G>A" "r.(?)" "p.?" "" "0000866627" "00024163" "50" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Arg81His)" "" "0000871769" "00024163" "50" "83" "0" "83" "0" "c.83C>T" "r.(?)" "p.(Pro28Leu)" "" "0000871771" "00024163" "50" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Arg81His)" "" "0000927078" "00024163" "50" "715" "0" "715" "0" "c.715G>A" "r.(?)" "p.(Val239Met)" "" "0000943996" "00024163" "90" "254" "0" "254" "0" "c.254T>A" "r.(?)" "p.(Val85Asp)" "" "0000943997" "00024163" "90" "254" "0" "254" "0" "c.254T>A" "r.(?)" "p.(Val85Asp)" "" "0000943998" "00024163" "90" "254" "0" "254" "0" "c.254T>A" "r.(?)" "p.(Val85Asp)" "" "0000943999" "00024163" "90" "254" "0" "254" "0" "c.254T>A" "r.(?)" "p.(Val85Asp)" "" "0000944510" "00024163" "90" "254" "0" "254" "0" "c.254T>A" "r.(?)" "p.(Val85Asp)" "" "0000944511" "00024163" "90" "254" "0" "254" "0" "c.254T>A" "r.(?)" "p.(Val85Asp)" "" "0000944512" "00024163" "90" "254" "0" "254" "0" "c.254T>A" "r.(?)" "p.(Val85Asp)" "" "0001005724" "00024163" "50" "482" "0" "482" "0" "c.482G>A" "r.(?)" "p.(Gly161Asp)" "" "0001005725" "00024163" "70" "281" "0" "281" "0" "c.281C>T" "r.(?)" "p.(Ala94Val)" "" "0001049381" "00024163" "90" "254" "0" "254" "0" "c.254T>A" "r.(?)" "p.(Val85Asp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002714" "0000000209" "0000002715" "0000000209" "0000006005" "0000000209" "0000006006" "0000000209" "0000006007" "0000000209" "0000006008" "0000000209" "0000006009" "0000000209" "0000006010" "0000000209" "0000006011" "0000000210" "0000010719" "0000000210" "0000010720" "0000000210" "0000013952" "0000000210" "0000013953" "0000000210" "0000013954" "0000000210" "0000013955" "0000328278" "0000712224" "0000328593" "0000712404" "0000442669" "0000943996" "0000442670" "0000943997" "0000442671" "0000943998" "0000442672" "0000943999" "0000443128" "0000944510" "0000443129" "0000944511" "0000443130" "0000944512" "0000469185" "0001049381"