### 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" "00006" "2026-03-06 17:26:39" ## 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 = 15 "{{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" "00473045" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam10372Pat157" "00473349" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam206019Pat612" "00473829" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam9708289Pat1304" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00105826" "02362" "00219067" "05113" "00219068" "05113" "00219069" "05113" "00473045" "05113" "00473349" "05113" "00473829" "05113" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02362, 05113 ## Count = 7 "{{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" "0000357840" "05113" "00473045" "00006" "Familial, autosomal recessive" "14y" "onset 11y with gait abnormality, foot drop & lower muscle neuropathy; Pes cavus; Steppage gait; Lower & upper muscle weakness due to neuropathy; Hand tremor; EMG-NCV: uniform demyelinating sensorimotor polyneuropathy with secondary axonal loss suggestive of HSMN1,4." "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "0000358144" "05113" "00473349" "00006" "Familial, autosomal recessive" "14y" "hypotonia, delay motor development, distal upper and lower muscle weakness and atrophy, gait abnormality, foot drop, chronic sensorimotor demyelinating polyneuropathy reported in NCV 1, chronic sensorimotor axonal polyneuropathy reported in NCV2" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "0000358624" "05113" "00473829" "00006" "Unknown" "30y" "Muscle weakness, distal, lower limbs; Neuropathy, hand & feet; Hand tremor; Pes cavus; Difficulty walking; EMG-NCV: chronic axonal type sensorimotor polyneuropathy." "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{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" "0000474714" "00473045" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475018" "00473349" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475498" "00473829" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## 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 = 61 "{{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" "" "0001069112" "3" "70" "8" "134274379" "134274379" "subst" "0" "00006" "NDRG1_000051" "g.134274379G>T" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.133262136G>T" "SCV006075093" "likely pathogenic" "ACMG" "0001069416" "3" "70" "8" "134269041" "134269041" "subst" "0" "00006" "NDRG1_000050" "g.134269041C>T" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1_VS, PM2" "Germline" "" "" "0" "" "" "g.133256798C>T" "SCV006075092" "likely pathogenic" "ACMG" "0001069892" "3" "50" "8" "134251341" "134251341" "subst" "0" "00006" "NDRG1_000049" "g.134251341C>T" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM1, PM2, PP4" "Germline" "" "" "0" "" "" "g.133239098C>T" "SCV006075091" "VUS" "ACMG" ## 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 = 61 "{{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.(=)" "" "0001069112" "00023886" "70" "237" "0" "237" "0" "c.237C>A" "r.(?)" "p.(Tyr79Ter)" "" "0001069416" "00023886" "70" "516" "0" "516" "0" "c.516G>A" "r.(?)" "p.(Trp172Ter)" "" "0001069892" "00023886" "50" "965" "0" "965" "0" "c.965G>A" "r.(?)" "p.(Arg322His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{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" "0000474714" "0001069112" "0000475018" "0001069416" "0000475498" "0001069892"