### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HINT1) # 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}}" "HINT1" "histidine triad nucleotide binding protein 1" "5" "q31.2" "unknown" "NG_032998.1" "UD_132610482149" "" "https://www.LOVD.nl/USP4HINT1" "" "1" "4912" "3094" "601314" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/HINT1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-02-04 16:54:56" "00006" "2026-03-19 16:27:08" ## 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}}" "00009333" "HINT1" "transcript variant 1" "001" "NM_005340.5" "" "NP_005331.1" "" "" "" "-136" "646" "381" "130501034" "130494875" "" "0000-00-00 00:00:00" "" "" "00025367" "HINT1" "transcript variant 1" "001" "NM_005340.6" "" "NP_005331.1" "" "" "" "-143" "545" "381" "130501041" "130494976" "00006" "2019-02-04 16:54:25" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01341" "NMAN" "neuromyotonia and axonal neuropathy, autosomal recessive (NMAN, Gamstorp-Wohlfart syndrome)" "AR" "137200" "" "autosomal recessive" "" "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" "" "" "05123" "SMA" "atrophy, muscular, spinal (SMA)" "" "" "" "" "" "00006" "2016-01-24 01:41:54" "" "" "05384" "neuropathy" "neuropathy" "" "" "" "" "" "00006" "2018-01-27 20:34:06" "" "" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "HINT1" "01341" ## Individuals ## Do not remove or alter this header ## ## Count = 27 "{{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}}" "00035947" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035948" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00050575" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00207942" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00207968" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00210188" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00219057" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat67" "00219058" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat68" "00219059" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat69" "00219060" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat70" "00219061" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat71" "00295640" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00296544" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00301389" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00375213" "" "" "" "1" "" "01164" "" "" "?" "" "" "" "0" "" "" "" "" "00386458" "" "" "" "1" "" "00006" "{DOI:Riba 2021:10.1089/gtmb.2020.0330}" "patient" "F" "no" "Brazil" "" "0" "" "" "white" "Pat58" "00473413" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam208836Pat712" "00473856" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam9802393Pat1354" "00473926" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam9901609Pat1448" "00473946" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam9907266Pat1475" "00474658" "" "" "" "1" "" "00006" "{PMID:Morel 2022:35882622}" "patient" "F" "no" "Austria" "" "0" "" "" "" "Pat1" "00474659" "" "" "" "1" "" "00006" "{PMID:Morel 2022:35882622}" "patient" "M" "yes" "Portugal" "" "0" "" "" "" "Pat2" "00474660" "" "" "" "1" "" "00006" "{PMID:Morel 2022:35882622}" "patient" "M" "no" "Kosovo" "" "0" "" "" "" "Pat3" "00474661" "" "" "" "1" "" "00006" "{PMID:Morel 2022:35882622}" "patient" "M" "no" "France" "" "0" "" "" "" "Pat4" "00474662" "" "" "" "1" "" "00006" "{PMID:Morel 2022:35882622}" "patient" "F" "yes" "" "" "0" "" "" "Roma" "Pat5" "00474663" "" "" "" "1" "" "00006" "{PMID:Morel 2022:35882622}" "patient" "M" "yes" "Algeria" "" "0" "" "" "" "Pat6" "00474664" "" "" "" "1" "" "00006" "{PMID:Morel 2022:35882622}" "patient" "M" "no" "France" "" "0" "" "" "Roma" "Pat7" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{individualid}}" "{{diseaseid}}" "00050575" "00198" "00219057" "05113" "00219058" "05113" "00219059" "05113" "00219060" "05113" "00219061" "05113" "00295640" "00198" "00296544" "00198" "00301389" "00198" "00375213" "00198" "00386458" "05517" "00473413" "05384" "00473856" "05123" "00473926" "00198" "00473946" "05384" "00474658" "05611" "00474659" "05611" "00474660" "05611" "00474661" "05611" "00474662" "05611" "00474663" "05611" "00474664" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01341, 05113, 05123, 05384, 05517, 05611 ## Count = 25 "{{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}}" "0000037187" "00198" "00050575" "00006" "Isolated (sporadic)" "" "intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "0000155714" "00198" "00207942" "01164" "Unknown" "" "HP:0011804 (Abnormality of muscle physiology); HP:0003326 (Myalgia)" "" "" "" "" "" "" "" "" "" "" "" "0000155737" "00198" "00207968" "01164" "Unknown" "" "HP:0003198 (Myopathy); HP:0011805 (Abnormality of muscle morphology)" "" "" "" "" "" "" "" "" "" "" "" "0000158755" "00198" "00210188" "01164" "Unknown" "" "HP:0009830 (Peripheral neuropathy)" "" "" "" "" "" "" "" "" "" "" "" "0000167614" "05113" "00219057" "00006" "Unknown" "" "AR-CMT2 + Neuromyotonia; no family history" "" "" "" "" "" "" "" "" "NMAN" "Charcot-Marie-Tooth diseae" "" "0000167615" "05113" "00219058" "00006" "Familial, autosomal recessive" "" "AR-CMT2 + Neuromyotonia" "" "" "" "" "" "" "" "" "NMAN" "Charcot-Marie-Tooth diseae" "" "0000167616" "05113" "00219059" "00006" "Unknown" "" "AR-CMT2 + Neuromyotonia" "" "" "" "" "" "" "" "" "NMAN" "Charcot-Marie-Tooth diseae" "" "0000167617" "05113" "00219060" "00006" "Unknown" "" "AR-CMT2 + Neuromyotonia" "" "" "" "" "" "" "" "" "NMAN" "Charcot-Marie-Tooth diseae" "" "0000167618" "05113" "00219061" "00006" "Familial, autosomal recessive" "" "AR-CMT2 + Neuromyotonia" "" "" "" "" "" "" "" "" "NMAN" "Charcot-Marie-Tooth diseae" "" "0000223204" "00198" "00295640" "01164" "Unknown" "" "Muscle stiffness (HP:0003552); Myopathy (HP:0003198)" "" "" "" "" "" "" "" "" "" "" "" "0000223951" "00198" "00296544" "01164" "Unknown" "" "Gait disturbance (HP:0001288); Talipes equinovarus (HP:0001762)" "" "" "" "" "" "" "" "" "" "" "" "0000228567" "00198" "00301389" "01164" "Unknown" "" "Peripheral axonal degeneration (HP:0000764); Sensory axonal neuropathy (HP:0003390)" "" "" "" "" "" "" "" "" "" "" "" "0000270423" "00198" "00375213" "01164" "Unknown" "" "Muscle weakness (HP:0001324)" "" "" "" "" "" "" "" "" "" "" "" "0000280265" "05517" "00386458" "00006" "Unknown" "2y" "macrocephaly; rhizomelic members; trident hands; no lordosis; no hydrocephalus; no cloverleaf skull; no bowed femurs" "" "" "" "" "" "" "" "" "ACH" "achondroplasia" "" "0000358208" "05384" "00473413" "00006" "Familial, autosomal recessive" "38y" "onset 15y ,distal upper and lower muscle weakness, pes cavus, foot drop, toe and heel walking inability and chronic motor polyneuropathy reported in NCV." "" "" "" "" "" "" "" "" "" "hereditary neuropathy" "" "0000358651" "05123" "00473856" "00006" "Familial, autosomal recessive" "20y" "onset 11y with difficulty walking; Difficulty running & climbing steps; Hand muscle spasm; Distal & proximal muscle weakness in legs>arms, mild; Wasting in distal of legs; Tremor in hands; Feet drop; Claw hallux, bilateral; Pes cavus; Abnormal gait; EMG-NCV: chronic ant. horn cell, mostly lower limbs." "" "" "" "" "" "" "" "" "" "spinal myscular atrophy" "" "0000358721" "00198" "00473926" "00006" "Familial, autosomal recessive" "16y" "onset 11y with muscle cramps, stiffness and weakness, progressive; Delayed muscle relaxation; Myopia; Increased sweating; Mild muscle atrophy; Myokymia; EMG: neuromyotonia and myokymia." "" "" "" "" "" "" "" "" "" "Isaac\'s syndrome" "" "0000358741" "05384" "00473946" "00006" "Familial, autosomal recessive" "13y" "onset 10y with severe pain & spasm in feet, extended to hands; Difficulty walking, running, climbing steps and rising from seated position; Distal muscle weakness, legs>arms; Lordosis; Tremor in hands; Thenar & hypothenar atrophy; Ankle deformity; Claw toes; Feet drop, bilateral; Flat feet; Abnormal gait; Prominent calves; EMG-NCV: motor polyneuropathy, mainly axonal features." "" "" "" "" "" "" "" "" "" "hereditary neuropathy" "" "0000359450" "05611" "00474658" "00006" "Familial, autosomal recessive" "26y" "see paper; ..., abnormal without aids; pes planus; scoliosis; no deep tendon reflexes; Abnormal; myotonia; muscle retractions; axonal motor neuropathy; no neuromyotonia; dyslexia; no psychiatric disorder; MRI brain normal" "4y" "" "" "" "" "" "" "" "NMAN" "peripheral neuropathy" "" "0000359451" "05611" "00474659" "00006" "Familial, autosomal recessive" "23y" "see paper; ..., abnormal with orthosis; pes planus, short Achille\'s tendons; scoliosis; no deep tendon reflexes; Abnormal; myotonia; axonal motor, sensory neuropathy; no neuromyotonia; intellectual disability; no psychiatric disorder; MRI brain normal" "2y" "" "" "" "" "" "" "" "NMAN" "peripheral neuropathy" "" "0000359452" "05611" "00474660" "00006" "Familial, autosomal recessive" "37y" "see paper; ..., abnormal without aids; pes planus; no scoliosis; no deep tendon reflexes; Abnormal; myotonia; axonal motor, sensory neuropathy; neuromyotonia; no psychiatric disorder" "24y" "" "" "" "" "" "" "" "NMAN" "peripheral neuropathy" "" "0000359453" "05611" "00474661" "00006" "Familial, autosomal recessive" "17y" "see paper; ..., abnormal without aids; scoliosis; no deep tendon reflexes; NA; myotonia; lordosis, irregular tremor on the finger‐nose test, overweight, hip hyperlaxity, chronic constipation; axonal motor, sensory neuropathy; neuromyotonia; neurodevelopmental disorder; depression, TDAH" "6y" "" "" "" "" "" "" "" "NMAN" "peripheral neuropathy" "" "0000359454" "05611" "00474662" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., abnormal without aids; short Achille\'s tendons; no scoliosis; no deep tendon reflexes; Abnormal; myotonia; axonal motor neuropathy; neuromyotonia; neurodevelopmental disorder, intellectual disability; generalized anxiety disorder, obsessive-compulsive disorder" "8y" "" "" "" "" "" "" "" "NMAN" "peripheral neuropathy" "" "0000359455" "05611" "00474663" "00006" "Familial, autosomal recessive" "23y" "see paper; ..., abnormal without aids; pes planus, short Achille\'s tendons; no scoliosis; no deep tendon reflexes; Abnormal; no myotonia; hypersudation; ataxia; axonal motor neuropathy; no neuromyotonia; neurodevelopmental disorder, intellectual disability; no psychiatric disorder; MRI brain normal" "7y" "" "" "" "" "" "" "" "NMAN" "peripheral neuropathy" "" "0000359456" "05611" "00474664" "00006" "Familial, autosomal recessive" "19y" "see paper; ..., abnormal without aids; pes planus; no scoliosis; no deep tendon reflexes; Abnormal; no myotonia; axonal motor neuropathy; no neuromyotonia; neurodevelopmental disorder, intellectual disability; no psychiatric disorder" "1y" "" "" "" "" "" "" "" "NMAN" "peripheral neuropathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 27 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000036017" "00035947" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036018" "00035948" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000050520" "00050575" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000208987" "00207942" "1" "01164" "01164" "2018-12-04 16:33:37" "" "" "SEQ-NG" "DNA" "" "" "0000209013" "00207968" "1" "01164" "01164" "2018-12-05 09:44:56" "" "" "SEQ-NG" "DNA" "" "" "0000211264" "00210188" "1" "01164" "01164" "2018-12-27 15:49:41" "" "" "SEQ-NG" "DNA" "" "" "0000220129" "00219057" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000220130" "00219058" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000220131" "00219059" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000220132" "00219060" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000220133" "00219061" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000296812" "00295640" "1" "01164" "01164" "2020-03-22 12:43:04" "" "" "SEQ-NG-S" "DNA" "" "" "0000297654" "00296544" "1" "01164" "01164" "2020-04-08 09:54:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000302510" "00301389" "1" "01164" "01164" "2020-05-15 11:16:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000376407" "00375213" "1" "01164" "01164" "2021-05-31 12:07:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000387686" "00386458" "1" "00006" "00006" "2021-10-22 16:36:58" "" "" "SEQ" "DNA" "" "hot spot exons" "0000475082" "00473413" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475525" "00473856" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475595" "00473926" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475615" "00473946" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476340" "00474658" "1" "00006" "00006" "2026-03-19 16:27:05" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000476341" "00474659" "1" "00006" "00006" "2026-03-19 16:27:05" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000476342" "00474660" "1" "00006" "00006" "2026-03-19 16:27:05" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000476343" "00474661" "1" "00006" "00006" "2026-03-19 16:27:05" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000476344" "00474662" "1" "00006" "00006" "2026-03-19 16:27:05" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000476345" "00474663" "1" "00006" "00006" "2026-03-19 16:27:05" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000476346" "00474664" "1" "00006" "00006" "2026-03-19 16:27:05" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000036017" "HINT1" "0000036018" "HINT1" "0000220129" "HINT1" "0000220130" "HINT1" "0000220131" "HINT1" "0000220132" "HINT1" "0000220133" "HINT1" "0000387686" "FGFR3" ## 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}}" "0000063142" "1" "90" "5" "130500789" "130500789" "subst" "0.000260905" "01164" "HINT1_000002" "g.130500789C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.131165096C>G" "" "pathogenic" "" "0000063143" "1" "10" "5" "130500751" "130500751" "subst" "0.283607" "01164" "HINT1_000001" "g.130500751A>C" "frequency uo to 0,44%" "" "" "" "" "Germline" "" "rs2278060" "0" "" "" "g.131165058A>C" "" "benign" "" "0000079500" "0" "90" "5" "123828524" "145717285" "dup" "0" "00006" "SIL1_000024" "g.123828524_145717285dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.38 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000246327" "0" "10" "5" "130498364" "130498364" "subst" "0.00201016" "02330" "HINT1_000003" "g.130498364A>G" "" "" "" "HINT1(NM_005340.7):c.117T>C (p.L39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131162671A>G" "" "benign" "" "0000246328" "0" "10" "5" "130500842" "130500842" "subst" "0.0494965" "02330" "HINT1_000004" "g.130500842A>G" "" "" "" "HINT1(NM_005340.7):c.57T>C (p.F19=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131165149A>G" "" "benign" "" "0000439050" "0" "70" "5" "130500789" "130500789" "subst" "0.000260905" "01164" "HINT1_000002" "g.130500789C>G" "" "" "" "" "ACMG grading: PP5,PP1,PM3,PM2; recessive carrier, no second variant detected; reported in Zimon (2012) Nat Genet 44: 1080 Laššuthová (2014) Neurogenetics" "Germline" "" "rs149782619" "0" "" "" "g.131165096C>G" "" "likely pathogenic" "ACMG" "0000439094" "3" "90" "5" "130500789" "130500789" "subst" "0.000260905" "01164" "HINT1_000002" "g.130500789C>G" "" "" "" "" "ACMG grading: PS3,PP5,PM2,PM3,PP1; recurrent foundermutation; reported in Laššuthová (2014) Neurogenetics; Zimon (2012) Nat Genet 44: 1080; Jerath , 2015" "Germline" "" "rs149782619" "0" "" "" "g.131165096C>G" "" "pathogenic" "ACMG" "0000442733" "0" "90" "5" "130495205" "130495205" "subst" "4.06101E-6" "01164" "HINT1_000005" "g.130495205G>A" "" "" "" "" "ACMG grading: PP5,PM2,PVS1; reported in Laššuthová 2014. Neurogenetics 16: 43–54" "Germline" "" "" "0" "" "" "g.131159512G>A" "" "pathogenic" "ACMG" "0000442734" "0" "90" "5" "130498304" "130498305" "del" "0" "01164" "HINT1_000006" "g.130498304_130498305del" "" "" "" "" "ACMG grading: PP5,PM2,PVS1" "Germline" "" "" "0" "" "" "g.131162611_131162612del" "" "pathogenic" "ACMG" "0000455025" "1" "90" "5" "130500789" "130500789" "subst" "0.000260905" "00006" "HINT1_000002" "g.130500789C>G" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.131165096C>G" "" "pathogenic" "" "0000455026" "2" "90" "5" "130495187" "130495187" "subst" "1.62455E-5" "00006" "HINT1_000007" "g.130495187G>T" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.131159494G>T" "" "pathogenic" "" "0000455027" "3" "90" "5" "130500789" "130500789" "subst" "0.000260905" "00006" "HINT1_000002" "g.130500789C>G" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.131165096C>G" "" "pathogenic" "" "0000455028" "3" "90" "5" "130500789" "130500789" "subst" "0.000260905" "00006" "HINT1_000002" "g.130500789C>G" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.131165096C>G" "" "pathogenic" "" "0000455029" "2" "90" "5" "130500789" "130500789" "subst" "0.000260905" "00006" "HINT1_000002" "g.130500789C>G" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.131165096C>G" "" "pathogenic" "" "0000455030" "1" "90" "5" "130495255" "130495255" "subst" "8.12896E-6" "00006" "HINT1_000008" "g.130495255C>A" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.131159562C>A" "" "pathogenic" "" "0000455031" "3" "90" "5" "130495255" "130495255" "subst" "8.12896E-6" "00006" "HINT1_000008" "g.130495255C>A" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.131159562C>A" "" "pathogenic" "" "0000524133" "0" "30" "5" "130498364" "130498364" "subst" "0.00201016" "02326" "HINT1_000003" "g.130498364A>G" "" "" "" "HINT1(NM_005340.7):c.117T>C (p.L39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131162671A>G" "" "likely benign" "" "0000653525" "0" "70" "5" "130500789" "130500789" "subst" "0.000260905" "01164" "HINT1_000002" "g.130500789C>G" "" "" "" "" "ACMG: PM2,PM3,PP1,PP5; no second variant in HINT1 detected" "Germline" "" "rs149782619" "0" "" "" "g.131165096C>G" "" "likely pathogenic" "ACMG" "0000660261" "3" "90" "5" "130500789" "130500789" "subst" "0.000260905" "01164" "HINT1_000002" "g.130500789C>G" "" "" "" "" "age at diagnosis: 20y; Zimon et al. 2012. Nat Genet 44: 1080; Laššuthová et al. 2015. Neurogenetics 16: 43; Laššuthová et al. 2016. Orphanet J Rare Dis 11: 119; Shah et al. 2018. J Mol Biol 17: 2709" "Germline" "" "rs149782619" "0" "" "" "g.131165096C>G" "" "pathogenic" "" "0000665799" "3" "70" "5" "130495255" "130495255" "subst" "8.12896E-6" "01164" "HINT1_000008" "g.130495255C>A" "" "" "" "" "borderline ovarian carcinoma at age 43y, tubular BC at age 62y, sister BC at age 48y, CRC in paternal family, mother pancreatic cancer at age 64y; Tiao et al. 2017. Leukemia 31: 2244; Yurgelun et al. 2017. J Clin Oncol 35: 1086; Lu et al. 2015. Nat Commun 6: 10084" "Germline" "" "rs397514490" "0" "" "" "g.131159562C>A" "" "likely pathogenic" "" "0000720160" "0" "30" "5" "130498372" "130498372" "subst" "0" "02330" "HINT1_000009" "g.130498372A>G" "" "" "" "HINT1(NM_005340.7):c.112-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000788008" "0" "70" "5" "130500789" "130500789" "subst" "0.000260905" "01164" "HINT1_000002" "g.130500789C>G" "" "" "" "" "ACMG grading: PM2,PM3,PP1,PP5" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000815842" "1" "90" "4" "1806040" "1806040" "subst" "0.00530533" "00006" "FGFR3_000051" "g.1806040C>T" "" "{DOI:Riba 2021:10.1089/gtmb.2020.0330}" "" "p.Gly380ArgG>A + c.1076-17C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.1804313C>T" "" "pathogenic (dominant)" "" "0000859746" "0" "30" "5" "130498289" "130498289" "subst" "4.0618E-6" "02330" "HINT1_000010" "g.130498289A>G" "" "" "" "HINT1(NM_005340.7):c.192T>C (p.S64=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924234" "0" "30" "5" "130498322" "130498322" "subst" "0.000129977" "02330" "HINT1_000011" "g.130498322C>T" "" "" "" "HINT1(NM_005340.7):c.159G>A (p.L53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976533" "0" "50" "5" "130498278" "130498278" "subst" "2.43716E-5" "01804" "HINT1_000012" "g.130498278T>A" "" "" "" "HINT1(NM_005340.7):c.203A>T (p.(Asp68Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052090" "0" "50" "5" "130500828" "130500828" "subst" "0" "01804" "HINT1_000013" "g.130500828C>A" "" "" "" "HINT1(NM_005340.7):c.71G>T (p.(Arg24Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001069479" "3" "70" "5" "130498371" "130498371" "subst" "0" "00006" "HINT1_000014" "g.130498371T>C" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.131162678T>C" "SCV006074984" "likely pathogenic" "ACMG" "0001069919" "3" "90" "5" "130500789" "130500789" "subst" "0.000260905" "00006" "HINT1_000002" "g.130500789C>G" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PS3_Supproting, PM2, PM3_VS, PP3" "Germline" "" "" "0" "" "" "g.131165096C>G" "SCV001755654" "pathogenic" "ACMG" "0001069988" "3" "70" "5" "130495255" "130495255" "subst" "8.12896E-6" "00006" "HINT1_000008" "g.130495255C>A" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM1, PM2, PM3, PP2, PP3" "Germline" "" "" "0" "" "" "g.131159562C>A" "SCV001755535" "likely pathogenic" "ACMG" "0001070008" "3" "90" "5" "130500789" "130500789" "subst" "0.000260905" "00006" "HINT1_000002" "g.130500789C>G" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM1, PM2, PP2, PP5" "Germline" "" "" "0" "" "" "g.131165096C>G" "SCV001755654" "pathogenic" "ACMG" "0001071120" "3" "90" "5" "130500789" "130500789" "subst" "0.000260905" "00006" "HINT1_000002" "g.130500789C>G" "" "{PMID:Morel 2022:35882622}" "" "" "" "Germline" "" "" "0" "" "" "g.131165096C>G" "" "pathogenic (recessive)" "" "0001071121" "3" "90" "5" "130495187" "130495187" "subst" "1.62455E-5" "00006" "HINT1_000007" "g.130495187G>T" "" "{PMID:Morel 2022:35882622}" "" "" "" "Germline" "" "" "0" "" "" "g.131159494G>T" "" "pathogenic (recessive)" "" "0001071122" "3" "90" "5" "130500789" "130500789" "subst" "0.000260905" "00006" "HINT1_000002" "g.130500789C>G" "" "{PMID:Morel 2022:35882622}" "" "" "" "Germline" "" "" "0" "" "" "g.131165096C>G" "" "pathogenic (recessive)" "" "0001071123" "3" "90" "5" "130500789" "130500789" "subst" "0.000260905" "00006" "HINT1_000002" "g.130500789C>G" "" "{PMID:Morel 2022:35882622}" "" "" "" "Germline" "" "" "0" "" "" "g.131165096C>G" "" "pathogenic (recessive)" "" "0001071124" "3" "90" "5" "130495187" "130495187" "subst" "1.62455E-5" "00006" "HINT1_000007" "g.130495187G>T" "" "{PMID:Morel 2022:35882622}" "" "" "" "Germline" "" "" "0" "" "" "g.131159494G>T" "" "pathogenic (recessive)" "" "0001071125" "3" "90" "5" "130495211" "130495211" "subst" "0" "00006" "HINT1_000015" "g.130495211C>G" "" "{PMID:Morel 2022:35882622}" "" "" "" "Germline" "" "" "0" "" "" "g.131159518C>G" "" "pathogenic (recessive)" "" "0001071126" "3" "90" "5" "130495187" "130495187" "subst" "1.62455E-5" "00006" "HINT1_000007" "g.130495187G>T" "" "{PMID:Morel 2022:35882622}" "" "" "" "Germline" "" "" "0" "" "" "g.131159494G>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 HINT1 ## Count = 45 "{{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}}" "0000063142" "00009333" "90" "110" "0" "110" "0" "c.110G>C" "r.(=)" "p.(Arg37Pro)" "" "0000063143" "00009333" "10" "111" "37" "111" "37" "c.111+37T>G" "r.(=)" "p.(=)" "" "0000079500" "00025367" "00" "-8388608" "0" "6666997" "0" "c.-15216387_*6666616dup" "r.0?" "p.0?" "" "0000079500" "00009333" "00" "-8388608" "0" "6666997" "0" "c.-15216387_*6666616dup" "" "" "" "0000246327" "00025367" "10" "117" "0" "117" "0" "c.117T>C" "r.(?)" "p.(Leu39=)" "" "0000246327" "00009333" "10" "117" "0" "117" "0" "c.117T>C" "r.(?)" "p.(Leu39=)" "" "0000246328" "00025367" "10" "57" "0" "57" "0" "c.57T>C" "r.(?)" "p.(Phe19=)" "" "0000246328" "00009333" "10" "57" "0" "57" "0" "c.57T>C" "r.(?)" "p.(Phe19=)" "" "0000439050" "00009333" "70" "110" "0" "110" "0" "c.110G>C" "r.(?)" "p.Arg37Pro" "" "0000439094" "00009333" "90" "110" "0" "110" "0" "c.110G>C" "r.(?)" "p.Arg37Pro" "" "0000442733" "00009333" "90" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.Gln106*" "" "0000442734" "00009333" "90" "180" "0" "181" "0" "c.180_181del" "r.(?)" "p.Ser61Profs*8" "" "0000455025" "00025367" "90" "110" "0" "110" "0" "c.110G>C" "r.(?)" "p.(Arg37Pro)" "" "0000455026" "00025367" "90" "334" "0" "334" "0" "c.334C>A" "r.(?)" "p.(His112Asn)" "" "0000455027" "00025367" "90" "110" "0" "110" "0" "c.110G>C" "r.(?)" "p.(Arg37Pro)" "" "0000455028" "00025367" "90" "110" "0" "110" "0" "c.110G>C" "r.(?)" "p.(Arg37Pro)" "" "0000455029" "00025367" "90" "110" "0" "110" "0" "c.110G>C" "r.(?)" "p.(Arg37Pro)" "" "0000455030" "00025367" "90" "266" "0" "266" "0" "c.266G>T" "r.(?)" "p.(Gly89Val)" "" "0000455031" "00025367" "90" "266" "0" "266" "0" "c.266G>T" "r.(?)" "p.(Gly89Val)" "" "0000524133" "00025367" "30" "117" "0" "117" "0" "c.117T>C" "r.(?)" "p.(Leu39=)" "" "0000524133" "00009333" "30" "117" "0" "117" "0" "c.117T>C" "r.(?)" "p.(Leu39=)" "" "0000653525" "00025367" "70" "110" "0" "110" "0" "c.110G>C" "r.(?)" "p.(Arg37Pro)" "" "0000660261" "00025367" "90" "110" "0" "110" "0" "c.110G>C" "r.(?)" "p.(Arg37Pro)" "" "0000665799" "00025367" "70" "266" "0" "266" "0" "c.266G>T" "r.(?)" "p.(Gly89Val)" "" "0000720160" "00025367" "30" "112" "-3" "112" "-3" "c.112-3T>C" "r.spl?" "p.?" "" "0000720160" "00009333" "30" "112" "-3" "112" "-3" "c.112-3T>C" "r.spl?" "p.?" "" "0000788008" "00025367" "70" "110" "0" "110" "0" "c.110G>C" "r.(?)" "p.(Arg37Pro)" "" "0000815842" "00009333" "10" "1076" "-17" "1076" "-17" "c.1076-17C>T" "r.(?)" "p.(=)" "" "0000859746" "00025367" "30" "192" "0" "192" "0" "c.192T>C" "r.(?)" "p.(Ser64=)" "" "0000859746" "00009333" "30" "192" "0" "192" "0" "c.192T>C" "r.(?)" "p.(Ser64=)" "" "0000924234" "00025367" "30" "159" "0" "159" "0" "c.159G>A" "r.(?)" "p.(Leu53=)" "" "0000924234" "00009333" "30" "159" "0" "159" "0" "c.159G>A" "r.(?)" "p.(Leu53=)" "" "0000976533" "00025367" "50" "203" "0" "203" "0" "c.203A>T" "r.(?)" "p.(Asp68Val)" "" "0001052090" "00025367" "50" "71" "0" "71" "0" "c.71G>T" "r.(?)" "p.(Arg24Leu)" "" "0001069479" "00009333" "70" "112" "-2" "112" "-2" "c.112-2A>G" "r.spl" "p.?" "" "0001069919" "00009333" "90" "110" "0" "110" "0" "c.110G>C" "r.(?)" "p.(Arg37Pro)" "" "0001069988" "00009333" "70" "266" "0" "266" "0" "c.266G>T" "r.(?)" "p.(Gly89Val)" "" "0001070008" "00009333" "90" "110" "0" "110" "0" "c.110G>C" "r.(?)" "p.(Arg37Pro)" "" "0001071120" "00025367" "90" "110" "0" "110" "0" "c.110G>C" "r.(?)" "p.(Arg37Pro)" "" "0001071121" "00025367" "90" "334" "0" "334" "0" "c.334C>A" "r.(?)" "p.(His112Asn)" "" "0001071122" "00025367" "90" "110" "0" "110" "0" "c.110G>C" "r.(?)" "p.(Arg37Pro)" "" "0001071123" "00025367" "90" "110" "0" "110" "0" "c.110G>C" "r.(?)" "p.(Arg37Pro)" "" "0001071124" "00025367" "90" "334" "0" "334" "0" "c.334C>A" "r.(?)" "p.(His112Asn)" "" "0001071125" "00025367" "90" "310" "0" "310" "0" "c.310G>C" "r.(?)" "p.(Gly104Arg)" "" "0001071126" "00025367" "90" "334" "0" "334" "0" "c.334C>A" "r.(?)" "p.(His112Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 30 "{{screeningid}}" "{{variantid}}" "0000036017" "0000063142" "0000036018" "0000063143" "0000050520" "0000079500" "0000208987" "0000439050" "0000209013" "0000439094" "0000211264" "0000442733" "0000211264" "0000442734" "0000220129" "0000455025" "0000220129" "0000455026" "0000220130" "0000455027" "0000220131" "0000455028" "0000220132" "0000455029" "0000220132" "0000455030" "0000220133" "0000455031" "0000296812" "0000653525" "0000297654" "0000660261" "0000302510" "0000665799" "0000376407" "0000788008" "0000387686" "0000815842" "0000475082" "0001069479" "0000475525" "0001069919" "0000475595" "0001069988" "0000475615" "0001070008" "0000476340" "0001071120" "0000476341" "0001071121" "0000476342" "0001071122" "0000476343" "0001071123" "0000476344" "0001071124" "0000476345" "0001071125" "0000476346" "0001071126"