### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NDRG1) # 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}}" "NDRG1" "N-myc downstream regulated 1" "8" "q24" "unknown" "LRG_258" "UD_132118639446" "" "http://www.LOVD.nl/NDRG1" "" "1" "7679" "10397" "605262" "1" "1" "1" "1" "This database is one of the gene variant databases from the:
Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. Variants submitted here will be shared with the IPNMDB." "" "" "" "1" "" "This database is one of the gene variant databases from the \"Leiden Muscular Dystrophy pages\" (LMDp)" "-1" "" "-1" "00001" "2012-05-23 00:00:00" "00006" "2017-06-26 12:27:07" "00000" "2024-10-29 21:08:56" ## 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}}" "00023886" "NDRG1" "transcript variant 2" "001" "NM_006096.3" "" "NP_006087.2" "" "" "" "-189" "2892" "1185" "134309547" "134249414" "00008" "2013-11-25 18:38:36" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "02362" "CMT4D" "Charcot-Marie-Tooth disease, type 4D (CMT-4D)" "AR" "601455" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "NDRG1" "02362" ## 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}}" "00036302" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036303" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036304" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036305" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036306" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036307" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036308" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036309" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00105826" "" "" "" "1" "" "02118" "" "" "M" "yes" "China" "?" "0" "" "" "Chinese" "?" "00219067" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "yes" "(Germany)" "" "0" "" "" "" "28902413-Pat77" "00219068" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat78" "00219069" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat79" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00105826" "02362" "00219067" "05113" "00219068" "05113" "00219069" "05113" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02362, 05113 ## 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}}" "0000083801" "02362" "00105826" "02118" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000167624" "05113" "00219067" "00006" "Unknown" "" "CMT4D; no family history" "" "" "" "" "" "" "" "CMT-4D" "Charcot-Marie-Tooth diseae" "0000167625" "05113" "00219068" "00006" "Unknown" "" "CMT4D; no family history" "" "" "" "" "" "" "" "CMT-4D" "Charcot-Marie-Tooth diseae" "0000167626" "05113" "00219069" "00006" "Familial, autosomal recessive" "" "CMT4D" "" "" "" "" "" "" "" "CMT-4D" "Charcot-Marie-Tooth diseae" ## 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}}" "0000036372" "00036302" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036373" "00036303" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036374" "00036304" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036375" "00036305" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036376" "00036306" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036377" "00036307" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036378" "00036308" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036379" "00036309" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000106298" "00105826" "1" "02118" "02118" "2017-06-25 09:23:54" "" "" "SEQ-NG" "DNA" "peripheral blood cell" "" "0000220139" "00219067" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000220140" "00219068" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000220141" "00219069" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000036372" "NDRG1" "0000036373" "NDRG1" "0000036374" "NDRG1" "0000036375" "NDRG1" "0000036376" "NDRG1" "0000036377" "NDRG1" "0000036378" "NDRG1" "0000036379" "NDRG1" "0000106298" "NDRG1" "0000220139" "NDRG1" "0000220140" "NDRG1" "0000220141" "NDRG1" ## 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 = 58 "{{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}}" "0000063497" "1" "10" "8" "134270457" "134270457" "subst" "0" "01164" "NDRG1_000006" "g.134270457G>A" "" "" "" "" "" "Germline" "" "rs10113567" "0" "" "" "g.133258214G>A" "" "benign" "" "0000063498" "1" "10" "8" "134260948" "134260948" "subst" "0.0948736" "01164" "NDRG1_000005" "g.134260948A>G" "" "" "" "" "" "Germline" "" "rs2233336" "0" "" "" "g.133248705A>G" "" "benign" "" "0000063499" "1" "50" "8" "134270487" "134270488" "del" "0" "01164" "NDRG1_000007" "g.134270487_134270488del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.133258244_133258245del" "" "VUS" "" "0000063500" "3" "90" "8" "134270617" "134270617" "subst" "0" "01164" "NDRG1_000001" "g.134270617G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.133258374G>A" "" "pathogenic" "" "0000063501" "1" "10" "8" "134292516" "134292516" "subst" "0.55502" "01164" "NDRG1_000003" "g.134292516A>G" "" "" "" "" "" "Germline" "" "rs2272653" "0" "" "" "g.133280273A>G" "" "benign" "" "0000063502" "1" "10" "8" "134271521" "134271521" "subst" "0.121872" "01164" "NDRG1_000002" "g.134271521G>C" "" "" "" "" "" "Germline" "" "rs2233326" "0" "" "" "g.133259278G>C" "" "benign" "" "0000063503" "1" "10" "8" "134256559" "134256559" "subst" "0.114298" "01164" "NDRG1_000008" "g.134256559G>T" "" "" "" "" "" "Germline" "" "rs2233341" "0" "" "" "g.133244316G>T" "" "benign" "" "0000063504" "1" "10" "8" "134260174" "134260174" "subst" "0.139702" "01164" "NDRG1_000004" "g.134260174G>A" "" "" "" "" "" "Germline" "" "rs2227262" "0" "" "" "g.133247931G>A" "" "benign" "" "0000171895" "3" "70" "8" "134270622" "134270622" "subst" "0" "02118" "NDRG1_000010" "g.134270622A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.133258379A>G" "" "likely pathogenic" "" "0000171896" "3" "70" "8" "134261012" "134261012" "subst" "4.06326E-6" "02118" "NDRG1_000009" "g.134261012C>T" "" "" "" "" "" "Germline" "?" "rs755968590" "0" "" "" "g.133248769C>T" "" "likely pathogenic" "" "0000246677" "0" "10" "8" "134292516" "134292516" "subst" "0.55502" "02330" "NDRG1_000003" "g.134292516A>G" "" "" "" "NDRG1(NM_001135242.2):c.64-6T>C, NDRG1(NM_001258433.2):c.-74-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133280273A>G" "" "benign" "" "0000246719" "0" "10" "8" "134260948" "134260948" "subst" "0.0948736" "02330" "NDRG1_000005" "g.134260948A>G" "" "" "" "NDRG1(NM_001135242.2):c.755+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133248705A>G" "" "benign" "" "0000248437" "0" "10" "8" "134292516" "134292516" "subst" "0.55502" "02325" "NDRG1_000003" "g.134292516A>G" "" "" "" "NDRG1(NM_001135242.2):c.64-6T>C, NDRG1(NM_001258433.2):c.-74-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133280273A>G" "" "benign" "" "0000292999" "0" "30" "8" "134251214" "134251214" "subst" "5.08523E-5" "02330" "NDRG1_000011" "g.134251214C>T" "" "" "" "NDRG1(NM_001135242.2):c.1092G>A (p.S364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133238971C>T" "" "likely benign" "" "0000293000" "0" "10" "8" "134274310" "134274310" "subst" "0.00295636" "02330" "NDRG1_000014" "g.134274310G>A" "" "" "" "NDRG1(NM_001135242.2):c.306C>T (p.G102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133262067G>A" "" "benign" "" "0000293001" "0" "90" "8" "134270617" "134270617" "subst" "0" "02330" "NDRG1_000001" "g.134270617G>A" "" "" "" "NDRG1(NM_001135242.2):c.442C>T (p.R148*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133258374G>A" "" "pathogenic" "" "0000293002" "0" "90" "8" "134266839" "134266839" "subst" "4.0699E-6" "02330" "NDRG1_000013" "g.134266839C>T" "" "" "" "NDRG1(NM_001135242.2):c.538-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133254596C>T" "" "pathogenic" "" "0000293003" "0" "30" "8" "134256652" "134256652" "subst" "1.2197E-5" "02330" "NDRG1_000012" "g.134256652C>T" "" "" "" "NDRG1(NM_001135242.2):c.856-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133244409C>T" "" "likely benign" "" "0000337156" "0" "90" "8" "134251363" "134251363" "subst" "0" "02327" "NDRG1_000015" "g.134251363C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133239120C>A" "" "pathogenic" "" "0000345921" "0" "50" "8" "134260145" "134260146" "ins" "0" "02327" "NDRG1_000016" "g.134260145_134260146insACAGGTGCA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133247902_133247903insACAGGTGCA" "" "VUS" "" "0000455043" "3" "90" "8" "134270617" "134270617" "subst" "0" "00006" "NDRG1_000001" "g.134270617G>A" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133258374G>A" "" "pathogenic" "" "0000455044" "3" "90" "8" "134270617" "134270617" "subst" "0" "00006" "NDRG1_000001" "g.134270617G>A" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133258374G>A" "" "pathogenic" "" "0000455045" "3" "70" "8" "134251360" "134251360" "del" "0" "00006" "NDRG1_000017" "g.134251360del" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "948delC" "ACMG pvs1, pm2" "Germline" "" "" "0" "" "" "g.133239117del" "" "likely pathogenic" "ACMG" "0000533815" "0" "50" "8" "134251333" "134251333" "subst" "0.00030614" "02330" "NDRG1_000018" "g.134251333G>A" "" "" "" "NDRG1(NM_001135242.2):c.973C>T (p.R325W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133239090G>A" "" "VUS" "" "0000533816" "0" "30" "8" "134251333" "134251333" "subst" "0.000171438" "02330" "NDRG1_000019" "g.134251333G>T" "" "" "" "NDRG1(NM_001135242.2):c.973C>A (p.R325=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133239090G>T" "" "likely benign" "" "0000533818" "0" "50" "8" "134254310" "134254310" "subst" "0" "02330" "NDRG1_000020" "g.134254310T>C" "" "" "" "NDRG1(NM_001135242.2):c.899A>G (p.K300R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133242067T>C" "" "VUS" "" "0000533819" "0" "30" "8" "134260136" "134260136" "subst" "0.000929934" "02330" "NDRG1_000021" "g.134260136C>T" "" "" "" "NDRG1(NM_001135242.2):c.789G>A (p.S263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133247893C>T" "" "likely benign" "" "0000533820" "0" "10" "8" "134260174" "134260174" "subst" "0.139702" "02330" "NDRG1_000004" "g.134260174G>A" "" "" "" "NDRG1(NM_001135242.2):c.756-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133247931G>A" "" "benign" "" "0000533821" "0" "50" "8" "134261010" "134261010" "subst" "2.43807E-5" "02330" "NDRG1_000022" "g.134261010G>A" "" "" "" "NDRG1(NM_001135242.2):c.703C>T (p.R235C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133248767G>A" "" "VUS" "" "0000533822" "0" "30" "8" "134262695" "134262695" "subst" "0.000174608" "02330" "NDRG1_000023" "g.134262695T>C" "" "" "" "NDRG1(NM_001135242.2):c.686A>G (p.N229S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133250452T>C" "" "likely benign" "" "0000533823" "0" "30" "8" "134262803" "134262803" "subst" "0" "02330" "NDRG1_000024" "g.134262803G>A" "" "" "" "NDRG1(NM_001135242.2):c.595-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133250560G>A" "" "likely benign" "" "0000533824" "0" "50" "8" "134266813" "134266813" "subst" "1.21917E-5" "02330" "NDRG1_000025" "g.134266813G>A" "" "" "" "NDRG1(NM_001135242.2):c.563C>T (p.P188L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133254570G>A" "" "VUS" "" "0000533825" "0" "10" "8" "134269050" "134269050" "subst" "0.00283349" "02330" "NDRG1_000026" "g.134269050C>T" "" "" "" "NDRG1(NM_001135242.2):c.507G>A (p.A169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133256807C>T" "" "benign" "" "0000533826" "0" "50" "8" "134271469" "134271469" "subst" "0.0017218" "02330" "NDRG1_000027" "g.134271469T>G" "" "" "" "NDRG1(NM_001135242.2):c.331A>C (p.M111L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133259226T>G" "" "VUS" "" "0000533827" "0" "30" "8" "134276860" "134276860" "subst" "3.65458E-5" "02330" "NDRG1_000028" "g.134276860G>A" "" "" "" "NDRG1(NM_001135242.2):c.135C>T (p.H45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133264617G>A" "" "likely benign" "" "0000533828" "0" "30" "8" "134296573" "134296574" "del" "0.00105597" "02330" "NDRG1_000029" "g.134296573_134296574del" "" "" "" "NDRG1(NM_001135242.2):c.-18-2_-18-1delAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133284330_133284331del" "" "likely benign" "" "0000611458" "0" "30" "8" "134260136" "134260136" "subst" "0.000929934" "02326" "NDRG1_000021" "g.134260136C>T" "" "" "" "NDRG1(NM_001135242.2):c.789G>A (p.S263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133247893C>T" "" "likely benign" "" "0000621997" "0" "10" "8" "134254322" "134254322" "subst" "0.0032732" "02330" "NDRG1_000030" "g.134254322G>A" "" "" "" "NDRG1(NM_001135242.2):c.892-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133242079G>A" "" "benign" "" "0000621998" "0" "10" "8" "134276796" "134276796" "subst" "0.00232273" "02330" "NDRG1_000031" "g.134276796T>C" "" "" "" "NDRG1(NM_001258432.2):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133264553T>C" "" "benign" "" "0000655998" "0" "90" "8" "134270617" "134270617" "subst" "0" "02327" "NDRG1_000001" "g.134270617G>A" "" "" "" "NDRG1(NM_001135242.2):c.442C>T (p.R148*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133258374G>A" "" "pathogenic" "" "0000678289" "0" "30" "8" "134256610" "134256610" "subst" "0.00112184" "02330" "NDRG1_000032" "g.134256610C>T" "" "" "" "NDRG1(NM_001135242.2):c.879G>A (p.P293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690173" "0" "30" "8" "134251151" "134251151" "subst" "8.31979E-5" "02330" "NDRG1_000033" "g.134251151G>A" "" "" "" "NDRG1(NM_001135242.2):c.1155C>T (p.A385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690174" "0" "30" "8" "134271398" "134271398" "subst" "9.74643E-5" "02326" "NDRG1_000034" "g.134271398C>G" "" "" "" "NDRG1(NM_001135242.2):c.389+13G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690175" "0" "50" "8" "134276828" "134276828" "subst" "5.27884E-5" "02330" "NDRG1_000035" "g.134276828C>T" "" "" "" "NDRG1(NM_001135242.2):c.167G>A (p.R56Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721801" "0" "30" "8" "134270589" "134270589" "subst" "0" "02330" "NDRG1_000036" "g.134270589A>G" "" "" "" "NDRG1(NM_001135242.2):c.450+20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721802" "0" "50" "8" "134276873" "134276873" "subst" "0.000641588" "02330" "NDRG1_000037" "g.134276873T>C" "" "" "" "NDRG1(NM_001135242.2):c.122A>G (p.H41R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721803" "0" "30" "8" "134296524" "134296524" "subst" "0.00118173" "02326" "NDRG1_000038" "g.134296524C>T" "" "" "" "NDRG1(NM_001135242.2):c.31G>A (p.A11T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803459" "0" "30" "8" "134251375" "134251375" "subst" "0.000302634" "02330" "NDRG1_000039" "g.134251375G>A" "" "" "" "NDRG1(NM_001135242.2):c.944-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851806" "0" "10" "8" "134261030" "134261030" "subst" "0.00174881" "02330" "NDRG1_000040" "g.134261030G>C" "" "" "" "NDRG1(NM_001135242.2):c.699-16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851807" "0" "30" "8" "134296524" "134296524" "subst" "0.00118173" "02330" "NDRG1_000038" "g.134296524C>T" "" "" "" "NDRG1(NM_001135242.2):c.31G>A (p.A11T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861069" "0" "50" "8" "134270611" "134270611" "subst" "1.24416E-5" "02330" "NDRG1_000041" "g.134270611C>T" "" "" "" "NDRG1(NM_001135242.2):c.448G>A (p.A150T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888171" "0" "50" "8" "134251218" "134251218" "subst" "8.00745E-5" "02330" "NDRG1_000042" "g.134251218C>T" "" "" "" "NDRG1(NM_001135242.2):c.1088G>A (p.R363H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888172" "0" "50" "8" "134262768" "134262768" "subst" "8.12176E-5" "02330" "NDRG1_000043" "g.134262768C>T" "" "" "" "NDRG1(NM_001135242.2):c.613G>A (p.V205M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888173" "0" "50" "8" "134276837" "134276837" "subst" "4.46668E-5" "02330" "NDRG1_000044" "g.134276837T>C" "" "" "" "NDRG1(NM_001135242.2):c.158A>G (p.K53R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964836" "0" "30" "8" "134254315" "134254315" "subst" "3.24868E-5" "02330" "NDRG1_000045" "g.134254315C>T" "" "" "" "NDRG1(NM_001135242.2):c.894G>A (p.P298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964837" "0" "30" "8" "134274295" "134274295" "subst" "8.18813E-6" "02330" "NDRG1_000046" "g.134274295G>A" "" "" "" "NDRG1(NM_001135242.2):c.321C>T (p.P107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996944" "0" "50" "8" "134260982" "134260982" "subst" "0" "01804" "NDRG1_000047" "g.134260982G>C" "" "" "" "NDRG1(NM_006096.3):c.731C>G (p.(Pro244Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014407" "0" "30" "8" "134292502" "134292502" "subst" "7.71542E-5" "02330" "NDRG1_000048" "g.134292502G>A" "" "" "" "NDRG1(NM_001135242.2):c.72C>T (p.T24=)" "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 NDRG1 ## Count = 58 "{{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}}" "0000063497" "00023886" "10" "450" "152" "450" "152" "c.450+152C>T" "r.(=)" "p.(=)" "" "0000063498" "00023886" "10" "755" "10" "755" "10" "c.755+10T>C" "r.(=)" "p.(=)" "" "0000063499" "00023886" "50" "450" "139" "450" "140" "c.450+139_450+140del" "r.(=)" "p.(=)" "" "0000063500" "00023886" "90" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Arg148*)" "" "0000063501" "00023886" "10" "64" "-6" "64" "-6" "c.64-6T>C" "r.(=)" "p.(=)" "" "0000063502" "00023886" "10" "327" "-48" "327" "-48" "c.327-48C>G" "r.(=)" "p.(=)" "" "0000063503" "00023886" "10" "891" "39" "891" "39" "c.891+39C>A" "r.(=)" "p.(=)" "" "0000063504" "00023886" "10" "756" "-5" "756" "-5" "c.756-5C>T" "r.(=)" "p.(=)" "" "0000171895" "00023886" "70" "437" "0" "437" "0" "c.437T>C" "r.(?)" "p.(Leu146Pro)" "7" "0000171896" "00023886" "70" "701" "0" "701" "0" "c.701G>A" "r.(?)" "p.(Arg234Gln)" "11" "0000246677" "00023886" "10" "64" "-6" "64" "-6" "c.64-6T>C" "r.(=)" "p.(=)" "" "0000246719" "00023886" "10" "755" "10" "755" "10" "c.755+10T>C" "r.(=)" "p.(=)" "" "0000248437" "00023886" "10" "64" "-6" "64" "-6" "c.64-6T>C" "r.(=)" "p.(=)" "" "0000292999" "00023886" "30" "1092" "0" "1092" "0" "c.1092G>A" "r.(?)" "p.(Ser364=)" "" "0000293000" "00023886" "10" "306" "0" "306" "0" "c.306C>T" "r.(?)" "p.(Gly102=)" "" "0000293001" "00023886" "90" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Arg148Ter)" "" "0000293002" "00023886" "90" "538" "-1" "538" "-1" "c.538-1G>A" "r.spl?" "p.?" "" "0000293003" "00023886" "30" "856" "-19" "856" "-19" "c.856-19G>A" "r.(=)" "p.(=)" "" "0000337156" "00023886" "90" "944" "-1" "944" "-1" "c.944-1G>T" "r.spl?" "p.?" "" "0000345921" "00023886" "50" "779" "0" "780" "0" "c.779_780insTGCACCTGT" "r.(?)" "p.(Gly260_Asp261insAlaProVal)" "" "0000455043" "00023886" "90" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Arg148*)" "" "0000455044" "00023886" "90" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Arg148*)" "" "0000455045" "00023886" "70" "948" "0" "948" "0" "c.948del" "r.(?)" "p.(Ser317Argfs*4)" "" "0000533815" "00023886" "50" "973" "0" "973" "0" "c.973C>T" "r.(?)" "p.(Arg325Trp)" "" "0000533816" "00023886" "30" "973" "0" "973" "0" "c.973C>A" "r.(?)" "p.(Arg325=)" "" "0000533818" "00023886" "50" "899" "0" "899" "0" "c.899A>G" "r.(?)" "p.(Lys300Arg)" "" "0000533819" "00023886" "30" "789" "0" "789" "0" "c.789G>A" "r.(?)" "p.(Ser263=)" "" "0000533820" "00023886" "10" "756" "-5" "756" "-5" "c.756-5C>T" "r.spl?" "p.?" "" "0000533821" "00023886" "50" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235Cys)" "" "0000533822" "00023886" "30" "686" "0" "686" "0" "c.686A>G" "r.(?)" "p.(Asn229Ser)" "" "0000533823" "00023886" "30" "595" "-17" "595" "-17" "c.595-17C>T" "r.(=)" "p.(=)" "" "0000533824" "00023886" "50" "563" "0" "563" "0" "c.563C>T" "r.(?)" "p.(Pro188Leu)" "" "0000533825" "00023886" "10" "507" "0" "507" "0" "c.507G>A" "r.(?)" "p.(Ala169=)" "" "0000533826" "00023886" "50" "331" "0" "331" "0" "c.331A>C" "r.(?)" "p.(Met111Leu)" "" "0000533827" "00023886" "30" "135" "0" "135" "0" "c.135C>T" "r.(?)" "p.(His45=)" "" "0000533828" "00023886" "30" "-18" "-2" "-18" "-1" "c.-18-2_-18-1del" "r.spl?" "p.?" "" "0000611458" "00023886" "30" "789" "0" "789" "0" "c.789G>A" "r.(?)" "p.(Ser263=)" "" "0000621997" "00023886" "10" "892" "-5" "892" "-5" "c.892-5C>T" "r.spl?" "p.?" "" "0000621998" "00023886" "10" "199" "0" "199" "0" "c.199A>G" "r.(?)" "p.(Met67Val)" "" "0000655998" "00023886" "90" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Arg148Ter)" "" "0000678289" "00023886" "30" "879" "0" "879" "0" "c.879G>A" "r.(?)" "p.(Pro293=)" "" "0000690173" "00023886" "30" "1155" "0" "1155" "0" "c.1155C>T" "r.(?)" "p.(Ala385=)" "" "0000690174" "00023886" "30" "389" "13" "389" "13" "c.389+13G>C" "r.(=)" "p.(=)" "" "0000690175" "00023886" "50" "167" "0" "167" "0" "c.167G>A" "r.(?)" "p.(Arg56Gln)" "" "0000721801" "00023886" "30" "450" "20" "450" "20" "c.450+20T>C" "r.(=)" "p.(=)" "" "0000721802" "00023886" "50" "122" "0" "122" "0" "c.122A>G" "r.(?)" "p.(His41Arg)" "" "0000721803" "00023886" "30" "31" "0" "31" "0" "c.31G>A" "r.(?)" "p.(Ala11Thr)" "" "0000803459" "00023886" "30" "944" "-13" "944" "-13" "c.944-13C>T" "r.(=)" "p.(=)" "" "0000851806" "00023886" "10" "699" "-16" "699" "-16" "c.699-16C>G" "r.(=)" "p.(=)" "" "0000851807" "00023886" "30" "31" "0" "31" "0" "c.31G>A" "r.(?)" "p.(Ala11Thr)" "" "0000861069" "00023886" "50" "448" "0" "448" "0" "c.448G>A" "r.(?)" "p.(Ala150Thr)" "" "0000888171" "00023886" "50" "1088" "0" "1088" "0" "c.1088G>A" "r.(?)" "p.(Arg363His)" "" "0000888172" "00023886" "50" "613" "0" "613" "0" "c.613G>A" "r.(?)" "p.(Val205Met)" "" "0000888173" "00023886" "50" "158" "0" "158" "0" "c.158A>G" "r.(?)" "p.(Lys53Arg)" "" "0000964836" "00023886" "30" "894" "0" "894" "0" "c.894G>A" "r.(?)" "p.(=)" "" "0000964837" "00023886" "30" "321" "0" "321" "0" "c.321C>T" "r.(?)" "p.(=)" "" "0000996944" "00023886" "50" "731" "0" "731" "0" "c.731C>G" "r.(?)" "p.(Pro244Arg)" "" "0001014407" "00023886" "30" "72" "0" "72" "0" "c.72C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000036372" "0000063497" "0000036373" "0000063498" "0000036374" "0000063499" "0000036375" "0000063500" "0000036376" "0000063501" "0000036377" "0000063502" "0000036378" "0000063503" "0000036379" "0000063504" "0000106298" "0000171895" "0000106298" "0000171896" "0000220139" "0000455043" "0000220140" "0000455044" "0000220141" "0000455045"