### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NALCN) # 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}}" "NALCN" "sodium leak channel, non-selective" "13" "q32.3" "unknown" "NG_053176.1" "UD_132319740170" "" "https://www.LOVD.nl/NALCN" "" "1" "19082" "259232" "611549" "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/NALCN_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-06-12 08:24:50" "00000" "2025-06-25 21:25:03" ## 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}}" "00014265" "NALCN" "sodium leak channel, non-selective" "001" "NM_052867.2" "" "NP_443099.1" "" "" "" "-189" "6734" "5217" "102068813" "101706130" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00026" "arthrogryposis" "arthrogryposis" "" "" "" "" "" "00001" "2012-08-03 16:49:36" "00006" "2019-01-04 15:23:51" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00385" "DA" "arthrogryposis, distal (DA)" "" "" "" "" "" "00006" "2014-05-27 12:44:13" "00006" "2015-12-08 23:59:30" "03937" "IHPRF1" "hypotonia, infantile, with psychomotor retardation and characteristic facies, type 1 (IHPRF-1)" "AR" "615419" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04589" "CLIFAHDD" "contractures, limbs and face, congenital, hypotonia, and developmental delay (CLIFAHDD)" "AD" "616266" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NALCN" "03937" "NALCN" "04589" ## Individuals ## Do not remove or alter this header ## ## Count = 25 "{{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}}" "00050347" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050348" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050367" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050401" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050402" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00080952" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00103881" "" "" "" "1" "" "00006" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "United States" "" "0" "" "" "" "28327206-PatBH5908_1" "00103882" "" "" "" "1" "" "00006" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "United States" "" "0" "" "" "" "28327206-PatBH6816_1" "00163650" "" "" "" "1" "" "02440" "" "Fetus, TOP 24th GW" "F" "no" "Germany" "" "0" "yes" "none" "" "" "00174398" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00290830" "" "" "" "221" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290831" "" "" "" "24" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00302961" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat6" "00304391" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307212" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D16-1913" "00307230" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D18-0198" "00380803" "" "" "" "1" "" "00000" "{PMID:Nair 2018:30293248}" "" "?" "" "Lebanon" "" "0" "" "" "" "?" "00385454" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "13006157" "00391857" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "228P" "00408029" "" "" "" "2" "" "04178" "" "Family with affected male child" "M" "?" "Egypt" "" "0" "" "" "" "IHPRF1_F1" "00408052" "" "" "00408029" "1" "" "04178" "" "father affected child" "" "" "Egypt" "" "0" "" "" "" "father" "00428225" "" "" "" "1" "" "00006" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "family, 1 affected" "M" "" "Germany" "" "0" "" "" "" "DECIPHER-388888/Fam6PatII1" "00433661" "" "" "" "1" "" "03544" "" "" "" "" "" "" "" "" "" "" "" "00438587" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0036" "00452780" "" "" "" "158" "" "01401" "" "" "F" "no" "Italy" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 26 "{{individualid}}" "{{diseaseid}}" "00050347" "00198" "00050348" "00198" "00050367" "00198" "00050401" "00198" "00050402" "00198" "00080952" "03937" "00103881" "00198" "00103882" "00198" "00163650" "00026" "00174398" "00198" "00290830" "00198" "00290831" "00198" "00302961" "05521" "00304391" "00198" "00307212" "00385" "00307230" "00198" "00380803" "03937" "00385454" "04214" "00391857" "03937" "00391857" "04589" "00408029" "03937" "00408052" "00000" "00428225" "00198" "00433661" "03937" "00438587" "06906" "00452780" "04589" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00026, 00198, 00385, 03937, 04214, 04589, 05521, 06906 ## Count = 20 "{{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}}" "0000036959" "00198" "00050347" "00006" "Unknown" "" "severe undiagnosed developmental disorders" "" "" "" "" "" "" "" "" "" "" "" "0000036960" "00198" "00050348" "00006" "Unknown" "" "severe undiagnosed developmental disorders" "" "" "" "" "" "" "" "" "" "" "" "0000036979" "00198" "00050367" "00006" "Unknown" "" "apneic episodes in infancy, tachypnea episodic, muscular hypotonia, recurrent viral infections, motor delay, strabismus, constipation" "" "" "" "" "" "" "" "" "" "" "" "0000037013" "00198" "00050401" "00006" "Unknown" "" "myopathic facies, generalized seizures, recurrent hand flapping" "" "" "" "" "" "" "" "" "" "" "" "0000037014" "00198" "00050402" "00006" "Unknown" "" "thoracic scoliosis, myopathic facies, recurrent hand flapping, generalized seizures" "" "" "" "" "" "" "" "" "" "" "" "0000060521" "03937" "00080952" "01758" "Familial, autosomal recessive" "" "Hypotonia, infantile, with psychomotor retardation and characteristic facies (OMIM:615419)" "" "" "" "" "" "" "" "" "" "" "" "0000081807" "00198" "00103881" "00006" "Isolated (sporadic)" "" "developmental delay, intellectual disability, speech delay, seizures, generalized weakness" "" "" "" "" "" "" "" "" "" "" "" "0000081808" "00198" "00103882" "00006" "Isolated (sporadic)" "" "developmental delay, brain malformation, hypotonia, dysmorphic features, CHD, distal arthrogryposis, concern for seizures" "" "" "" "" "" "" "" "" "" "" "" "0000128786" "00026" "00163650" "02440" "Familial, autosomal recessive" "" "Increased nuchal translucency (HP:0010880), Arthrogryposis multiplex congenita (HP:0002804), Fetal akinesia sequence (HP:0001989), Bilateral talipes equinovarus (HP:0001776), Polyhydramnios (HP:0001561), Hypertelorism (HP:0000316), Palpebral edema (HP:0100540), Micrognathia (HP:0000347)" "" "" "" "" "" "" "" "" "Multiple pterygium syndrome, lethal type" "Fetal akinesia deformation sequence" "" "0000139236" "00198" "00174398" "01807" "Unknown" "" "Short stature (HP:0004322); Global developmental delay (HP:0001263); Congenital contracture (HP:0002803); Abnormality of the face (HP:0000271)" "" "" "" "" "" "" "" "" "" "" "" "0000230044" "05521" "00302961" "00006" "Familial, autosomal recessive" "" "Epileptic Encephalopathy, Infantile Spasms evolving to Lennox-Gastaut syndrome; age onset infantile" "" "" "" "" "" "" "" "" "" "seizures" "" "0000233017" "00385" "00307212" "00534" "Isolated (sporadic)" "" "antenatal onset; hand clenching" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000233035" "00198" "00307230" "00534" "Isolated (sporadic)" "" "distal arthrogryposis" "" "" "" "" "" "" "" "" "" "distal arthrogryposis, congenital myopathy" "" "0000274656" "03937" "00380803" "00000" "Familial" "" "DD; ID; hypotonia, regression; dysmorphic facial features (Neurological)" "" "" "" "" "" "" "" "" "NALCN channelopathies" "" "" "0000279249" "04214" "00385454" "00000" "Familial, autosomal dominant" "" "" "<1y" "" "" "" "" "" "" "" "" "congenital cataracts; developmental delay; congenital hypothyroidism; subependymal nodules" "" "0000300159" "03937" "00408029" "04178" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000319137" "00198" "00428225" "00006" "Isolated (sporadic)" "8m" "polyhydramnios, insulin-dependent diabetes mellitus; congenital contractures limbs/face, hypotonia, developmental delay; bilateral adducted thumbs, contracted third fingers (improved with age); round face, mild hypertelorism, short palpebral fissures, microstomia; severe global developmental delay; 3y8m-no unsupported sitting, crawling, standing or walking, no speech, reduced comprehension; oromandibular dystonia; birth 39w+2, Apgar 9/9/9 but problems with respiratory adaptation (tachydyspnoeia, inspiratory stridor); laryngomalacia as newborn, 2 times laser treatment; now all measurements low, especially short stature; 3y8m-weight −2.3 SD, length −3.9 SD, OFC −2.5 SD" "" "" "" "" "" "" "" "" "CLIFAHDD" "fetal akinesia" "" "0000324084" "03937" "00433661" "03544" "Familial, autosomal recessive" "" "severe intellectual disability, developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000328490" "06906" "00438587" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000341352" "04589" "00452780" "01401" "Isolated (sporadic)" "26" "inability to walk on toes, on heels, or in tandem; moderate limb dysmetria; adiadochokinesia; mild upward ophthalmospasms; oculomotor apraxia; slurred speech; facial grimaces; inappropriate laughing; moderate cognitive difficulty in several domains. Brain magnetic resonance imaging showed cerebellar atrophy, particularly of vermis and inferior lobe, and asymmetry in the occipital bones." "" "" "" "sodium leak channel" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 25 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050292" "00050347" "1" "00006" "00006" "2015-09-27 13:26:52" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050293" "00050348" "1" "00006" "00006" "2015-09-27 13:26:52" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050312" "00050367" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050346" "00050401" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050347" "00050402" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000081064" "00080952" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000104339" "00103881" "1" "00006" "00006" "2017-04-22 16:52:53" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000104340" "00103882" "1" "00006" "00006" "2017-04-22 16:52:53" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000164515" "00163650" "1" "02440" "02440" "2018-04-03 16:54:13" "" "" "SEQ-NG-I" "DNA" "Umbilical cord" "" "0000175289" "00174398" "1" "01807" "01807" "2018-08-08 12:39:37" "" "" "SEQ" "DNA" "" "" "0000291998" "00290830" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291999" "00290831" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304086" "00302961" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000305520" "00304391" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308354" "00307212" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000308372" "00307230" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000382017" "00380803" "1" "00000" "03840" "2021-08-23 12:15:23" "" "" "SEQ-NG-I" "DNA" "" "whole exome sequencing" "0000386683" "00385454" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "genome sequencing" "0000393099" "00391857" "1" "02494" "02494" "2021-11-19 11:55:23" "" "" "SEQ-NG" "DNA" "" "WES" "0000409283" "00408029" "1" "04178" "04178" "2022-04-12 10:57:00" "" "" "SEQ-NG" "DNA" "White blood cells" "WES followed by Sanger sequencing" "0000409307" "00408052" "1" "00006" "00006" "2022-04-13 10:41:09" "" "" "SEQ-NG" "DNA" "" "" "0000429636" "00428225" "1" "00006" "00006" "2022-12-24 16:09:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000435119" "00433661" "1" "03544" "03544" "2023-03-12 19:43:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000440069" "00438587" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000454382" "00452780" "1" "01401" "01401" "2024-07-23 14:26:59" "" "" "SEQ-NG-I" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 29 "{{screeningid}}" "{{geneid}}" "0000050292" "NALCN" "0000050293" "NALCN" "0000050312" "NALCN" "0000050312" "TRAPPC9" "0000050346" "NALCN" "0000050347" "NALCN" "0000081064" "NALCN" "0000104339" "NALCN" "0000104340" "NALCN" "0000164515" "CHRNA1" "0000164515" "CHRNB1" "0000164515" "CHRND" "0000164515" "CHRNE" "0000164515" "CHRNG" "0000164515" "CNTN1" "0000164515" "DOK7" "0000164515" "KLHL40" "0000164515" "MTM1" "0000164515" "MUSK" "0000164515" "NALCN" "0000164515" "RAPSN" "0000164515" "UBA1" "0000304086" "ANO3" "0000304086" "NALCN" "0000308354" "NALCN" "0000308372" "NALCN" "0000386683" "NALCN" "0000409283" "NALCN" "0000454382" "NALCN" ## 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 = 115 "{{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}}" "0000079244" "1" "90" "13" "101725983" "101725983" "subst" "4.07136E-6" "00006" "NALCN_000004" "g.101725983G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.101073631G>A" "" "pathogenic" "" "0000079245" "1" "90" "13" "101725983" "101725983" "subst" "4.07136E-6" "00006" "NALCN_000004" "g.101725983G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.101073631G>A" "" "pathogenic" "" "0000079272" "2" "90" "13" "101797193" "101797193" "subst" "4.06517E-6" "00006" "NALCN_000001" "g.101797193G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.101144842G>A" "" "pathogenic" "" "0000079273" "2" "90" "13" "101797193" "101797193" "subst" "4.06517E-6" "00006" "NALCN_000001" "g.101797193G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.101144842G>A" "" "pathogenic" "" "0000079292" "11" "90" "13" "101756915" "101756915" "subst" "8.14279E-6" "00006" "NALCN_000002" "g.101756915G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.101104564G>A" "" "pathogenic" "" "0000079326" "21" "90" "13" "101725983" "101725983" "subst" "4.07136E-6" "00006" "NALCN_000004" "g.101725983G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.101073631G>A" "" "pathogenic" "" "0000079327" "21" "90" "13" "101725983" "101725983" "subst" "4.07136E-6" "00006" "NALCN_000004" "g.101725983G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.101073631G>A" "" "pathogenic" "" "0000079643" "21" "90" "13" "102047715" "102047715" "subst" "0" "00006" "NALCN_000003" "g.102047715C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.101395364C>T" "" "pathogenic" "" "0000079649" "11" "90" "13" "101797193" "101797193" "subst" "4.06517E-6" "00006" "NALCN_000001" "g.101797193G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.101144842G>A" "" "pathogenic" "" "0000079650" "11" "90" "13" "101797193" "101797193" "subst" "4.06517E-6" "00006" "NALCN_000001" "g.101797193G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.101144842G>A" "" "pathogenic" "" "0000130150" "3" "70" "13" "101725983" "101725983" "subst" "4.07136E-6" "01758" "NALCN_000004" "g.101725983G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.101073631G>A" "" "likely pathogenic" "ACMG" "0000169019" "1" "90" "13" "101944423" "101944423" "subst" "0" "00006" "NALCN_000006" "g.101944423A>G" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "De novo" "" "" "0" "" "" "g.101292072A>G" "" "pathogenic" "" "0000170831" "1" "90" "13" "101844393" "101844393" "subst" "0" "00006" "NALCN_000005" "g.101844393T>C" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "De novo" "" "" "0" "" "" "g.101192042T>C" "" "pathogenic" "" "0000253862" "0" "10" "13" "101757011" "101757011" "subst" "0.0266675" "01943" "NALCN_000012" "g.101757011A>C" "" "" "" "NALCN(NM_052867.3):c.2637-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101104660A>C" "" "benign" "" "0000296310" "0" "90" "13" "101736103" "101736103" "subst" "0" "02325" "NALCN_000009" "g.101736103C>T" "" "" "" "NALCN(NM_052867.4):c.3542G>A (p.R1181Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101083752C>T" "" "pathogenic" "" "0000298519" "0" "90" "13" "101759961" "101759961" "subst" "0" "02329" "NALCN_000014" "g.101759961C>T" "" "" "" "NALCN(NM_052867.4):c.2457-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101107610C>T" "" "pathogenic" "" "0000302874" "0" "10" "13" "101763529" "101763529" "subst" "0.00278416" "01943" "NALCN_000016" "g.101763529G>A" "" "" "" "NALCN(NM_052867.3):c.2241C>T (p.P747=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101111178G>A" "" "benign" "" "0000302875" "0" "50" "13" "101736092" "101736092" "subst" "0" "01943" "NALCN_000008" "g.101736092C>T" "" "" "" "NALCN(NM_052867.3):c.3553G>A (p.A1185T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101083741C>T" "" "VUS" "" "0000323461" "0" "50" "13" "101707691" "101707694" "dup" "0" "01804" "NALCN_000007" "g.101707691_101707694dup" "" "" "" "NALCN(NM_052867.2):c.5173_5176dupACTG (p.(Val1726AspfsTer10))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101055339_101055342dup" "" "VUS" "" "0000323462" "0" "50" "13" "101736163" "101736163" "subst" "1.6357E-5" "01804" "NALCN_000010" "g.101736163G>T" "" "" "" "NALCN(NM_052867.2):c.3490-8C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101083812G>T" "" "VUS" "" "0000323463" "0" "50" "13" "101748009" "101748009" "subst" "0" "01804" "NALCN_000011" "g.101748009C>T" "" "" "" "NALCN(NM_052867.2):c.3185G>A (p.(Arg1062Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101095658C>T" "" "VUS" "" "0000341130" "0" "70" "13" "101736092" "101736092" "subst" "0" "02327" "NALCN_000008" "g.101736092C>T" "" "" "" "NALCN(NM_052867.3):c.3553G>A (p.A1185T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101083741C>T" "" "likely pathogenic" "" "0000341371" "0" "50" "13" "101944432" "101944432" "subst" "0" "02327" "NALCN_000021" "g.101944432G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101292081G>C" "" "VUS" "" "0000341890" "0" "90" "13" "101725983" "101725983" "subst" "4.07136E-6" "02327" "NALCN_000004" "g.101725983G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101073631G>A" "" "pathogenic" "" "0000343318" "0" "90" "13" "101763567" "101763567" "subst" "8.24097E-6" "02327" "NALCN_000020" "g.101763567G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101111216G>A" "" "pathogenic" "" "0000343417" "0" "90" "13" "101759893" "101759893" "subst" "1.2195E-5" "02327" "NALCN_000019" "g.101759893G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101107542G>A" "" "pathogenic" "" "0000346544" "0" "90" "13" "101755530" "101755530" "subst" "0" "02327" "NALCN_000018" "g.101755530A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101103179A>G" "" "pathogenic" "" "0000367750" "0" "10" "13" "101735211" "101735211" "subst" "0.351422" "02440" "NALCN_000022" "g.101735211G>A" "0.37 controls" "" "" "" "" "Unknown" "?" "rs17677552" "0" "" "" "g.101082860G>A" "" "benign" "" "0000367751" "0" "10" "13" "101736075" "101736075" "subst" "0.687031" "02440" "NALCN_000023" "g.101736075A>G" "0.73 controls" "" "" "" "" "Unknown" "?" "rs686141" "0" "" "" "g.101083724A>G" "" "benign" "" "0000367752" "0" "10" "13" "101881777" "101881777" "subst" "0.285217" "02440" "NALCN_000024" "g.101881777G>A" "0.36 controls" "" "" "" "" "Unknown" "?" "rs3916906" "0" "" "" "g.101229426G>A" "" "benign" "" "0000395160" "0" "70" "13" "101736123" "101736123" "subst" "0" "01807" "NALCN_000025" "g.101736123T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.101083772T>A" "" "likely pathogenic" "" "0000549668" "0" "10" "13" "101720300" "101720300" "subst" "0.340686" "02327" "NALCN_000028" "g.101720300T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101067948T>G" "" "benign" "" "0000549669" "0" "10" "13" "101721029" "101721029" "subst" "0.231089" "02327" "NALCN_000029" "g.101721029T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101068677T>C" "" "benign" "" "0000549670" "0" "50" "13" "101721083" "101721083" "subst" "0" "02327" "NALCN_000030" "g.101721083C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101068731C>T" "" "VUS" "" "0000549671" "0" "10" "13" "101735211" "101735211" "subst" "0.351422" "02327" "NALCN_000022" "g.101735211G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101082860G>A" "" "benign" "" "0000549672" "0" "10" "13" "101736075" "101736075" "subst" "0.687031" "02327" "NALCN_000023" "g.101736075A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101083724A>G" "" "benign" "" "0000549673" "0" "70" "13" "101755614" "101755614" "subst" "4.07299E-6" "01804" "NALCN_000031" "g.101755614C>T" "" "" "" "NALCN(NM_052867.2):c.2966G>A (p.(Arg989Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101103263C>T" "" "likely pathogenic" "" "0000549675" "0" "50" "13" "101797237" "101797237" "subst" "0" "02327" "NALCN_000033" "g.101797237C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101144886C>A" "" "VUS" "" "0000549676" "0" "10" "13" "101881777" "101881777" "subst" "0.285217" "02327" "NALCN_000024" "g.101881777G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101229426G>A" "" "benign" "" "0000549677" "0" "70" "13" "101881861" "101881861" "del" "0" "01804" "NALCN_000034" "g.101881861del" "" "" "" "NALCN(NM_052867.2):c.1514del (p.(Lys505SerfsTer13))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101229510del" "" "likely pathogenic" "" "0000549678" "0" "50" "13" "101890148" "101890148" "subst" "0" "02327" "NALCN_000035" "g.101890148A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101237797A>T" "" "VUS" "" "0000549679" "0" "30" "13" "101910844" "101910844" "subst" "8.12684E-6" "01943" "NALCN_000036" "g.101910844A>C" "" "" "" "NALCN(NM_052867.3):c.1216T>G (p.Y406D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101258493A>C" "" "likely benign" "" "0000549680" "0" "50" "13" "101910846" "101910846" "subst" "0" "01804" "NALCN_000037" "g.101910846T>C" "" "" "" "NALCN(NM_052867.2):c.1214A>G (p.(Tyr405Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101258495T>C" "" "VUS" "" "0000549681" "0" "50" "13" "101910862" "101910862" "subst" "8.12605E-6" "02327" "NALCN_000038" "g.101910862C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101258511C>T" "" "VUS" "" "0000614466" "0" "70" "13" "101755558" "101755558" "subst" "1.63224E-5" "02327" "NALCN_000040" "g.101755558G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101103207G>A" "" "likely pathogenic" "" "0000614467" "0" "90" "13" "101881844" "101881844" "subst" "0" "02327" "NALCN_000042" "g.101881844A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101229493A>G" "" "pathogenic" "" "0000648687" "1" "10" "13" "101757011" "101757011" "subst" "0.0266675" "03575" "NALCN_000012" "g.101757011A>C" "221/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "221 heterozygous; {DB:CLININrs16958350}" "Germline" "" "rs16958350" "0" "" "" "g.101104660A>C" "" "benign" "" "0000648688" "1" "10" "13" "101763029" "101763029" "subst" "0.0198485" "03575" "NALCN_000043" "g.101763029G>A" "24/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "24 heterozygous, no homozygous; {DB:CLININrs76776920}" "Germline" "" "rs76776920" "0" "" "" "g.101110678G>A" "" "benign" "" "0000657226" "0" "30" "13" "101710337" "101710337" "subst" "0.00306791" "01943" "NALCN_000044" "g.101710337G>A" "" "" "" "NALCN(NM_001350748.1):c.5064C>T (p.D1688=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101057985G>A" "" "likely benign" "" "0000657227" "0" "10" "13" "101795422" "101795422" "subst" "0.483765" "02327" "NALCN_000045" "g.101795422A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101143071A>G" "" "benign" "" "0000667484" "1" "70" "13" "101725935" "101725935" "subst" "1.63524E-5" "00006" "NALCN_000046" "g.101725935C>T" "" "{PMID:Helbig 2016:26795593}" "" "" "" "Germline" "" "" "0" "" "" "g.101073583C>T" "" "likely pathogenic (recessive)" "ACMG" "0000667591" "2" "70" "13" "101763567" "101763567" "subst" "8.24097E-6" "00006" "NALCN_000020" "g.101763567G>A" "" "{PMID:Helbig 2016:26795593}" "" "" "" "Germline" "" "" "0" "" "" "g.101111216G>A" "" "likely pathogenic (recessive)" "ACMG" "0000669208" "3" "10" "13" "101757011" "101757011" "subst" "0.0266675" "03575" "NALCN_000012" "g.101757011A>C" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 homozygous; {DB:CLININrs16958350}" "Germline" "" "rs16958350" "0" "" "" "g.101104660A>C" "" "benign" "" "0000675312" "0" "90" "13" "101736103" "101736103" "subst" "0" "00534" "NALCN_000009" "g.101736103C>T" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "De novo" "" "" "0" "" "" "g.101083752C>T" "" "pathogenic (dominant)" "ACMG" "0000675330" "0" "70" "13" "101844287" "101844287" "subst" "0" "00534" "NALCN_000048" "g.101844287T>C" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "De novo" "" "" "0" "" "" "g.101191936T>C" "" "likely pathogenic (dominant)" "ACMG" "0000679703" "0" "70" "13" "101736134" "101736134" "subst" "0" "02327" "NALCN_000047" "g.101736134C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000679704" "0" "50" "13" "101936340" "101936340" "subst" "0" "01943" "NALCN_000049" "g.101936340G>A" "" "" "" "NALCN(NM_001350748.1):c.1078C>T (p.Q360*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691458" "0" "50" "13" "101755615" "101755615" "subst" "8.14551E-6" "02325" "NALCN_000050" "g.101755615G>A" "" "" "" "NALCN(NM_052867.4):c.2965C>T (p.R989W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691459" "0" "70" "13" "101759837" "101759837" "subst" "0" "01943" "NALCN_000051" "g.101759837C>T" "" "" "" "NALCN(NM_001350748.1):c.2666+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000691460" "0" "90" "13" "101844299" "101844299" "subst" "0" "02325" "NALCN_000052" "g.101844299T>C" "" "" "" "NALCN(NM_052867.4):c.1733A>G (p.Y578C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000724323" "0" "90" "13" "101844267" "101844267" "subst" "0" "01943" "NALCN_000053" "g.101844267C>T" "" "" "" "NALCN(NM_001350748.1):c.1764+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000795651" "3" "70" "13" "101755530" "101755530" "dup" "0" "00000" "NALCN_000054" "g.101755530dup" "" "{PMID:Nair 2018:30293248}" "" "different transcript: NM_052867.3:c.3056dup; p.Leu1019Phefs" "" "Unknown" "?" "" "0" "" "" "g.101103179dup" "" "likely pathogenic" "" "0000805993" "0" "50" "13" "101759866" "101759866" "subst" "1.21953E-5" "02325" "NALCN_000055" "g.101759866G>A" "" "" "" "NALCN(NM_052867.4):c.2551C>T (p.R851W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000814363" "0" "50" "13" "101910874" "101910874" "subst" "1.21893E-5" "00000" "NALCN_000056" "g.101910874C>T" "" "{PMID:Lenassi 2020:31848469}" "" "NALCN c.1186G>A p.(Val396Met) het [de novo]" "heterozygous" "Germline" "?" "" "0" "" "" "g.101258523C>T" "" "VUS" "ACMG" "0000823707" "0" "70" "13" "101944442" "101944442" "subst" "4.07123E-6" "02494" "NALCN_000057" "g.101944442C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic (!)" "" "0000846413" "3" "70" "13" "101755530" "101755530" "dup" "0" "04178" "NALCN_000054" "g.101755530dup" "" "" "" "" "both parents were carrier" "Germline" "yes" "" "0" "" "" "g.101103179dup" "" "likely pathogenic (recessive)" "ACMG" "0000846449" "1" "70" "13" "101755530" "101755530" "dup" "0" "04178" "NALCN_000054" "g.101755530dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101103179dup" "" "likely pathogenic (recessive)" "" "0000846450" "2" "30" "13" "101755480" "101755480" "subst" "0.543053" "04178" "NALCN_000058" "g.101755480G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101103129G>T" "" "benign" "ACMG" "0000853565" "0" "50" "13" "101910898" "101910898" "subst" "4.06233E-6" "02325" "NALCN_000063" "g.101910898T>C" "" "" "" "NALCN(NM_052867.4):c.1162A>G (p.M388V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853566" "0" "50" "13" "102047698" "102047698" "subst" "4.07724E-6" "02329" "NALCN_000065" "g.102047698G>A" "" "" "" "NALCN(NM_001350748.2):c.127C>T (p.R43C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863166" "0" "50" "13" "101726968" "101726968" "subst" "0" "01943" "NALCN_000059" "g.101726968T>C" "" "" "" "NALCN(NM_001350748.1):c.4087A>G (p.K1363E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863167" "0" "30" "13" "101759840" "101759840" "subst" "6.50322E-5" "01943" "NALCN_000060" "g.101759840G>A" "" "" "" "NALCN(NM_001350748.1):c.2664C>T (p.N888=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863168" "0" "50" "13" "101763027" "101763027" "subst" "9.35575E-5" "02325" "NALCN_000061" "g.101763027A>C" "" "" "" "NALCN(NM_052867.4):c.2307T>G (p.H769Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863169" "0" "50" "13" "101844385" "101844385" "subst" "0" "02325" "NALCN_000062" "g.101844385C>G" "" "" "" "NALCN(NM_052867.4):c.1647G>C (p.Q549H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863170" "0" "50" "13" "101910926" "101910926" "subst" "0" "01943" "NALCN_000064" "g.101910926C>T" "" "" "" "NALCN(NM_001350748.1):c.1135-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890855" "0" "30" "13" "101726861" "101726861" "subst" "0.000825437" "02325" "NALCN_000066" "g.101726861C>G" "" "" "" "NALCN(NM_052867.4):c.4103+4G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890856" "0" "50" "13" "101728268" "101728268" "subst" "0" "02325" "NALCN_000067" "g.101728268C>T" "" "" "" "NALCN(NM_052867.4):c.3910G>A (p.A1304T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890857" "0" "50" "13" "101733918" "101733918" "subst" "0.00019517" "02325" "NALCN_000068" "g.101733918G>A" "" "" "" "NALCN(NM_052867.4):c.3845C>T (p.S1282L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000909221" "0" "70" "13" "101736123" "101736123" "subst" "0" "00006" "NALCN_000025" "g.101736123T>A" "" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "" "" "" "De novo" "" "" "0" "" "" "g.101083772T>A" "" "likely pathogenic (dominant)" "" "0000913973" "0" "50" "13" "101721190" "101721190" "subst" "0" "02327" "NALCN_000069" "g.101721190T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913974" "0" "90" "13" "101736103" "101736103" "subst" "0" "02325" "NALCN_000070" "g.101736103C>A" "" "" "" "NALCN(NM_052867.4):c.3542G>T (p.R1181L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000921056" "1" "90" "13" "101726895" "101726895" "subst" "0" "03544" "NALCN_000071" "g.101726895C>T" "" "" "" "" "compound heterozygosity with rs779930597" "Germline" "yes" "" "0" "" "" "g.101074544C>T" "{CV:3383971}" "pathogenic (recessive)" "ACMG" "0000921082" "2" "90" "13" "101759893" "101759893" "subst" "1.2195E-5" "03544" "NALCN_000019" "g.101759893G>A" "" "" "" "" "" "Germline" "yes" "rs779930597" "0" "" "" "g.101107542G>A" "{CV:1201677}" "pathogenic (recessive)" "" "0000925714" "0" "50" "13" "101944625" "101944625" "subst" "0" "02327" "NALCN_000073" "g.101944625A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930165" "0" "50" "13" "101881803" "101881803" "subst" "0.000824593" "02325" "NALCN_000074" "g.101881803T>C" "" "" "" "NALCN(NM_052867.4):c.1567A>G (p.I523V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000936381" "0" "10" "13" "101733917" "101733917" "subst" "0" "00006" "NALCN_000075" "g.101733917C>A" "" "{PMID:Hamdan 2017:29100083}" "" "NM_052867:c.G3846T (S1282S)" "" "De novo" "" "" "0" "" "" "" "" "benign" "" "0000980529" "0" "30" "13" "101710353" "101710353" "subst" "7.3278E-5" "01804" "NALCN_000076" "g.101710353C>T" "" "" "" "NALCN(NM_052867.4):c.4961G>A (p.(Arg1654Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980530" "0" "50" "13" "101714326" "101714326" "subst" "4.07824E-5" "01804" "NALCN_000077" "g.101714326G>C" "" "" "" "NALCN(NM_052867.4):c.4749C>G (p.(Ile1583Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980531" "0" "50" "13" "101742315" "101742315" "subst" "0.000603146" "01804" "NALCN_000078" "g.101742315G>T" "" "" "" "NALCN(NM_052867.4):c.3272C>A (p.(Ala1091Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980532" "0" "30" "13" "101748041" "101748041" "subst" "0" "01804" "NALCN_000079" "g.101748041A>T" "" "" "" "NALCN(NM_052867.4):c.3163-10T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980533" "0" "50" "13" "101776978" "101776978" "subst" "4.47045E-5" "01804" "NALCN_000080" "g.101776978C>T" "" "" "" "NALCN(NM_052867.4):c.2173G>A (p.(Ala725Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980534" "0" "50" "13" "101890175" "101890175" "dup" "0" "01804" "NALCN_000081" "g.101890175dup" "" "" "" "NALCN(NM_052867.4):c.1365dup (p.(Leu456Thrfs*32))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980535" "0" "50" "13" "101936301" "101936301" "subst" "1.22488E-5" "01804" "NALCN_000082" "g.101936301C>T" "" "" "" "NALCN(NM_052867.4):c.1117G>A (p.(Ala373Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000989186" "0" "70" "13" "101881856" "101881856" "subst" "0" "01401" "NALCN_000083" "g.101881856T>A" "" "" "" "13-101881856-T-A" "" "Germline" "" "" "0" "" "" "g.101229505T>A" "" "likely pathogenic" "" "0001000391" "0" "30" "13" "101707739" "101707739" "subst" "4.06134E-6" "01804" "NALCN_000084" "g.101707739C>T" "" "" "" "NALCN(NM_052867.2):c.5125G>A (p.(Ala1709Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000392" "0" "30" "13" "101710377" "101710377" "subst" "1.22267E-5" "01804" "NALCN_000085" "g.101710377G>A" "" "" "" "NALCN(NM_052867.2):c.4937C>T (p.(Thr1646Met)), NALCN(NM_052867.4):c.4937C>T (p.T1646M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000393" "0" "30" "13" "101763489" "101763489" "subst" "0" "01804" "NALCN_000086" "g.101763489G>A" "" "" "" "NALCN(NM_052867.2):c.2281C>T (p.(Arg761Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000394" "0" "50" "13" "101890164" "101890164" "subst" "0" "01804" "NALCN_000087" "g.101890164A>G" "" "" "" "NALCN(NM_052867.2):c.1376T>C (p.(Ile459Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000395" "0" "30" "13" "101890264" "101890264" "subst" "0" "01804" "NALCN_000088" "g.101890264T>A" "" "" "" "NALCN(NM_052867.2):c.1276A>T (p.(Thr426Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000396" "0" "50" "13" "101910892" "101910892" "subst" "8.1246E-6" "01804" "NALCN_000089" "g.101910892T>C" "" "" "" "NALCN(NM_052867.2):c.1168A>G (p.(Ile390Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000397" "0" "30" "13" "102029262" "102029262" "subst" "2.43774E-5" "01804" "NALCN_000090" "g.102029262G>A" "" "" "" "NALCN(NM_052867.2):c.515+6C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000398" "0" "50" "13" "102047617" "102047617" "subst" "0.00106858" "02325" "NALCN_000091" "g.102047617C>A" "" "" "" "NALCN(NM_052867.4):c.208G>T (p.V70L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000399" "0" "50" "13" "102047641" "102047641" "subst" "1.62534E-5" "01804" "NALCN_000092" "g.102047641C>T" "" "" "" "NALCN(NM_052867.2):c.184G>A (p.(Glu62Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015025" "0" "50" "13" "101710377" "101710377" "subst" "1.22267E-5" "02325" "NALCN_000085" "g.101710377G>A" "" "" "" "NALCN(NM_052867.2):c.4937C>T (p.(Thr1646Met)), NALCN(NM_052867.4):c.4937C>T (p.T1646M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015026" "0" "50" "13" "101755690" "101755690" "subst" "0" "02325" "NALCN_000093" "g.101755690C>T" "" "" "" "NALCN(NM_052867.4):c.2890G>A (p.V964M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039540" "0" "50" "13" "101728283" "101728283" "subst" "1.66424E-5" "01804" "NALCN_000094" "g.101728283T>C" "" "" "" "NALCN(NM_052867.4):c.3895A>G (p.(Thr1299Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039541" "0" "50" "13" "101735516" "101735516" "subst" "0" "01804" "NALCN_000095" "g.101735516A>G" "" "" "" "NALCN(NM_052867.4):c.3617T>C (p.(Ile1206Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039542" "0" "30" "13" "101742321" "101742321" "subst" "0.00122706" "01804" "NALCN_000096" "g.101742321C>T" "" "" "" "NALCN(NM_052867.4):c.3270-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039543" "0" "50" "13" "101763528" "101763528" "subst" "0.00016309" "01804" "NALCN_000097" "g.101763528C>T" "" "" "" "NALCN(NM_052867.4):c.2242G>A (p.(Ala748Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039544" "0" "50" "13" "101777029" "101777029" "subst" "8.13392E-6" "01804" "NALCN_000098" "g.101777029G>A" "" "" "" "NALCN(NM_052867.4):c.2122C>T (p.(Arg708Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039545" "0" "30" "13" "101777039" "101777039" "dup" "0" "01804" "NALCN_000099" "g.101777039dup" "" "" "" "NALCN(NM_052867.4):c.2119-4dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039546" "0" "30" "13" "101784813" "101784813" "subst" "0" "01804" "NALCN_000100" "g.101784813T>C" "" "" "" "NALCN(NM_052867.4):c.2119-7781A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039547" "0" "70" "13" "101828706" "101828706" "subst" "0" "02329" "NALCN_000101" "g.101828706A>G" "" "" "" "NALCN(NM_052867.4):c.1784T>C (p.V595A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001039548" "0" "30" "13" "101844409" "101844409" "subst" "0" "01804" "NALCN_000102" "g.101844409A>C" "" "" "" "NALCN(NM_052867.4):c.1627-4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045490" "0" "70" "13" "101727009" "101727009" "subst" "0" "03779" "NALCN_000103" "g.101727009G>A" "" "" "" "" "" "Unknown" "" "rs2033130135" "0" "" "" "" "" "likely pathogenic" "" ## 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 NALCN ## Count = 115 "{{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}}" "0000079244" "00014265" "00" "4150" "0" "4150" "0" "c.4150C>T" "r.(?)" "p.(Arg1384*)" "37" "0000079245" "00014265" "00" "4150" "0" "4150" "0" "c.4150C>T" "r.(?)" "p.(Arg1384*)" "37" "0000079272" "00014265" "00" "1894" "0" "1894" "0" "c.1894C>T" "r.(?)" "p.(Arg632*)" "16" "0000079273" "00014265" "00" "1894" "0" "1894" "0" "c.1894C>T" "r.(?)" "p.(Arg632*)" "16" "0000079292" "00014265" "00" "2723" "0" "2723" "0" "c.2723C>T" "r.(?)" "p.(Pro908Leu)" "24" "0000079326" "00014265" "00" "4150" "0" "4150" "0" "c.4150C>T" "r.(?)" "p.(Arg1384*)" "37" "0000079327" "00014265" "00" "4150" "0" "4150" "0" "c.4150C>T" "r.(?)" "p.(Arg1384*)" "37" "0000079643" "00014265" "00" "110" "0" "110" "0" "c.110G>A" "r.(?)" "p.(Trp37*)" "3" "0000079649" "00014265" "00" "1894" "0" "1894" "0" "c.1894C>T" "r.(?)" "p.(Arg632*)" "16" "0000079650" "00014265" "00" "1894" "0" "1894" "0" "c.1894C>T" "r.(?)" "p.(Arg632*)" "16" "0000130150" "00014265" "70" "4150" "0" "4150" "0" "c.4150C>T" "r.(?)" "p.(Arg1384*)" "37" "0000169019" "00014265" "90" "965" "0" "965" "0" "c.965T>C" "r.(?)" "p.(Ile322Thr)" "14" "0000170831" "00014265" "90" "1639" "0" "1639" "0" "c.1639A>G" "r.(?)" "p.(Met547Val)" "14" "0000253862" "00014265" "10" "2637" "-10" "2637" "-10" "c.2637-10T>G" "r.(=)" "p.(=)" "" "0000296310" "00014265" "90" "3542" "0" "3542" "0" "c.3542G>A" "r.(?)" "p.(Arg1181Gln)" "" "0000298519" "00014265" "90" "2457" "-1" "2457" "-1" "c.2457-1G>A" "r.spl?" "p.?" "" "0000302874" "00014265" "10" "2241" "0" "2241" "0" "c.2241C>T" "r.(?)" "p.(Pro747=)" "" "0000302875" "00014265" "50" "3553" "0" "3553" "0" "c.3553G>A" "r.(?)" "p.(Ala1185Thr)" "" "0000323461" "00014265" "50" "5173" "0" "5176" "0" "c.5173_5176dup" "r.(?)" "p.(Val1726AspfsTer10)" "" "0000323462" "00014265" "50" "3490" "-8" "3490" "-8" "c.3490-8C>A" "r.(=)" "p.(=)" "" "0000323463" "00014265" "50" "3185" "0" "3185" "0" "c.3185G>A" "r.(?)" "p.(Arg1062Lys)" "" "0000341130" "00014265" "70" "3553" "0" "3553" "0" "c.3553G>A" "r.(?)" "p.(Ala1185Thr)" "" "0000341371" "00014265" "50" "956" "0" "956" "0" "c.956C>G" "r.(?)" "p.(Ala319Gly)" "" "0000341890" "00014265" "90" "4150" "0" "4150" "0" "c.4150C>T" "r.(?)" "p.(Arg1384Ter)" "" "0000343318" "00014265" "90" "2203" "0" "2203" "0" "c.2203C>T" "r.(?)" "p.(Arg735Ter)" "" "0000343417" "00014265" "90" "2524" "0" "2524" "0" "c.2524C>T" "r.(?)" "p.(Arg842Ter)" "" "0000346544" "00014265" "90" "3050" "0" "3050" "0" "c.3050T>C" "r.(?)" "p.(Ile1017Thr)" "" "0000367750" "00014265" "10" "3714" "0" "3714" "0" "c.3714C>T" "r.(=)" "p.(=)" "" "0000367751" "00014265" "10" "3570" "0" "3570" "0" "c.3570T>C" "r.(=)" "p.(=)" "" "0000367752" "00014265" "10" "1593" "0" "1593" "0" "c.1593C>T" "r.(=)" "p.(=)" "" "0000395160" "00014265" "70" "3522" "0" "3522" "0" "c.3522A>T" "r.(?)" "p.(Arg1174Ser)" "" "0000549668" "00014265" "10" "4416" "0" "4416" "0" "c.4416A>C" "r.(?)" "p.(Ile1472=)" "" "0000549669" "00014265" "10" "4330" "18" "4330" "18" "c.4330+18A>G" "r.(=)" "p.(=)" "" "0000549670" "00014265" "50" "4294" "0" "4294" "0" "c.4294G>A" "r.(?)" "p.(Val1432Ile)" "" "0000549671" "00014265" "10" "3714" "0" "3714" "0" "c.3714C>T" "r.(?)" "p.(Thr1238=)" "" "0000549672" "00014265" "10" "3570" "0" "3570" "0" "c.3570T>C" "r.(?)" "p.(Leu1190=)" "" "0000549673" "00014265" "70" "2966" "0" "2966" "0" "c.2966G>A" "r.(?)" "p.(Arg989Gln)" "" "0000549675" "00014265" "50" "1850" "0" "1850" "0" "c.1850G>T" "r.(?)" "p.(Ser617Ile)" "" "0000549676" "00014265" "10" "1593" "0" "1593" "0" "c.1593C>T" "r.(?)" "p.(Val531=)" "" "0000549677" "00014265" "70" "1514" "0" "1514" "0" "c.1514del" "r.(?)" "p.(Lys505SerfsTer13)" "" "0000549678" "00014265" "50" "1392" "0" "1392" "0" "c.1392T>A" "r.(?)" "p.(His464Gln)" "" "0000549679" "00014265" "30" "1216" "0" "1216" "0" "c.1216T>G" "r.(?)" "p.(Tyr406Asp)" "" "0000549680" "00014265" "50" "1214" "0" "1214" "0" "c.1214A>G" "r.(?)" "p.(Tyr405Cys)" "" "0000549681" "00014265" "50" "1198" "0" "1198" "0" "c.1198G>A" "r.(?)" "p.(Val400Met)" "" "0000614466" "00014265" "70" "3022" "0" "3022" "0" "c.3022C>T" "r.(?)" "p.(Arg1008Ter)" "" "0000614467" "00014265" "90" "1526" "0" "1526" "0" "c.1526T>C" "r.(?)" "p.(Leu509Ser)" "" "0000648687" "00014265" "10" "2637" "-10" "2637" "-10" "c.2637-10T>G" "r.(=)" "p.(=)" "" "0000648688" "00014265" "10" "2305" "0" "2305" "0" "c.2305C>T" "r.(?)" "p.(His769Tyr)" "" "0000657226" "00014265" "30" "4977" "0" "4977" "0" "c.4977C>T" "r.(?)" "p.(Asp1659=)" "" "0000657227" "00014265" "10" "2118" "9" "2118" "9" "c.2118+9T>C" "r.(=)" "p.(=)" "" "0000667484" "00014265" "70" "4197" "1" "4197" "1" "c.4197+1G>A" "r.spl" "p.?" "" "0000667591" "00014265" "70" "2203" "0" "2203" "0" "c.2203C>T" "r.(?)" "p.(Arg735*)" "" "0000669208" "00014265" "10" "2637" "-10" "2637" "-10" "c.2637-10T>G" "r.(=)" "p.(=)" "" "0000675312" "00014265" "90" "3542" "0" "3542" "0" "c.3542G>A" "r.(?)" "p.(Arg1181Gln)" "" "0000675330" "00014265" "70" "1745" "0" "1745" "0" "c.1745A>G" "r.(?)" "p.(Tyr582Cys)" "" "0000679703" "00014265" "70" "3511" "0" "3511" "0" "c.3511G>A" "r.(?)" "p.(Asp1171Asn)" "" "0000679704" "00014265" "50" "1078" "0" "1078" "0" "c.1078C>T" "r.(?)" "p.(Gln360Ter)" "" "0000691458" "00014265" "50" "2965" "0" "2965" "0" "c.2965C>T" "r.(?)" "p.(Arg989Trp)" "" "0000691459" "00014265" "70" "2579" "1" "2579" "1" "c.2579+1G>A" "r.spl?" "p.?" "" "0000691460" "00014265" "90" "1733" "0" "1733" "0" "c.1733A>G" "r.(?)" "p.(Tyr578Cys)" "" "0000724323" "00014265" "90" "1764" "1" "1764" "1" "c.1764+1G>A" "r.spl?" "p.?" "" "0000795651" "00014265" "70" "3056" "0" "3056" "0" "c.3056dup" "r.(?)" "p.(Leu1019Phefs*30)" "" "0000805993" "00014265" "50" "2551" "0" "2551" "0" "c.2551C>T" "r.(?)" "p.(Arg851Trp)" "" "0000814363" "00014265" "50" "1186" "0" "1186" "0" "c.1186G>A" "r.(?)" "p.(Val396Met)" "" "0000823707" "00014265" "70" "946" "0" "946" "0" "c.946G>A" "r.(?)" "p.(Val316Met)" "" "0000846413" "00014265" "70" "3056" "0" "3056" "0" "c.3056dup" "r.(?)" "p.(Leu1019Phefs*30)" "26" "0000846449" "00014265" "70" "3056" "0" "3056" "0" "c.3056dup" "r.(?)" "p.(Leu1019Phefs*30)" "" "0000846450" "00014265" "30" "3057" "43" "3057" "43" "c.3057+43C>A" "r.(?)" "p.(=)" "" "0000853565" "00014265" "50" "1162" "0" "1162" "0" "c.1162A>G" "r.(?)" "p.(Met388Val)" "" "0000853566" "00014265" "50" "127" "0" "127" "0" "c.127C>T" "r.(?)" "p.(Arg43Cys)" "" "0000863166" "00014265" "50" "4000" "0" "4000" "0" "c.4000A>G" "r.(?)" "p.(Lys1334Glu)" "" "0000863167" "00014265" "30" "2577" "0" "2577" "0" "c.2577C>T" "r.(?)" "p.(Asn859=)" "" "0000863168" "00014265" "50" "2307" "0" "2307" "0" "c.2307T>G" "r.(?)" "p.(His769Gln)" "" "0000863169" "00014265" "50" "1647" "0" "1647" "0" "c.1647G>C" "r.(?)" "p.(Gln549His)" "" "0000863170" "00014265" "50" "1135" "-1" "1135" "-1" "c.1135-1G>A" "r.spl?" "p.?" "" "0000890855" "00014265" "30" "4103" "4" "4103" "4" "c.4103+4G>C" "r.spl?" "p.?" "" "0000890856" "00014265" "50" "3910" "0" "3910" "0" "c.3910G>A" "r.(?)" "p.(Ala1304Thr)" "" "0000890857" "00014265" "50" "3845" "0" "3845" "0" "c.3845C>T" "r.(?)" "p.(Ser1282Leu)" "" "0000909221" "00014265" "70" "3522" "0" "3522" "0" "c.3522A>T" "r.(?)" "p.(Arg1174Ser)" "" "0000913973" "00014265" "50" "4198" "-11" "4198" "-11" "c.4198-11A>G" "r.(=)" "p.(=)" "" "0000913974" "00014265" "90" "3542" "0" "3542" "0" "c.3542G>T" "r.(?)" "p.(Arg1181Leu)" "" "0000921056" "00014265" "90" "4073" "0" "4073" "0" "c.4073G>A" "r.(?)" "p.(Gly1358Asp)" "" "0000921082" "00014265" "90" "2524" "0" "2524" "0" "c.2524C>T" "r.(?)" "p.(Arg842*)" "" "0000925714" "00014265" "50" "892" "0" "892" "0" "c.892T>A" "r.(?)" "p.(Ser298Thr)" "" "0000930165" "00014265" "50" "1567" "0" "1567" "0" "c.1567A>G" "r.(?)" "p.(Ile523Val)" "" "0000936381" "00014265" "10" "3846" "0" "3846" "0" "c.3846G>T" "r.(=)" "p.(=)" "" "0000980529" "00014265" "30" "4961" "0" "4961" "0" "c.4961G>A" "r.(?)" "p.(Arg1654Gln)" "" "0000980530" "00014265" "50" "4749" "0" "4749" "0" "c.4749C>G" "r.(?)" "p.(Ile1583Met)" "" "0000980531" "00014265" "50" "3272" "0" "3272" "0" "c.3272C>A" "r.(?)" "p.(Ala1091Glu)" "" "0000980532" "00014265" "30" "3163" "-10" "3163" "-10" "c.3163-10T>A" "r.(=)" "p.(=)" "" "0000980533" "00014265" "50" "2173" "0" "2173" "0" "c.2173G>A" "r.(?)" "p.(Ala725Thr)" "" "0000980534" "00014265" "50" "1365" "0" "1365" "0" "c.1365dup" "r.(?)" "p.(Leu456Thrfs*32)" "" "0000980535" "00014265" "50" "1117" "0" "1117" "0" "c.1117G>A" "r.(?)" "p.(Ala373Thr)" "" "0000989186" "00014265" "70" "1514" "0" "1514" "0" "c.1514A>T" "r.(?)" "p.(Lys505Met)" "" "0001000391" "00014265" "30" "5125" "0" "5125" "0" "c.5125G>A" "r.(?)" "p.(Ala1709Thr)" "" "0001000392" "00014265" "30" "4937" "0" "4937" "0" "c.4937C>T" "r.(?)" "p.(Thr1646Met)" "" "0001000393" "00014265" "30" "2281" "0" "2281" "0" "c.2281C>T" "r.(?)" "p.(Arg761Cys)" "" "0001000394" "00014265" "50" "1376" "0" "1376" "0" "c.1376T>C" "r.(?)" "p.(Ile459Thr)" "" "0001000395" "00014265" "30" "1276" "0" "1276" "0" "c.1276A>T" "r.(?)" "p.(Thr426Ser)" "" "0001000396" "00014265" "50" "1168" "0" "1168" "0" "c.1168A>G" "r.(?)" "p.(Ile390Val)" "" "0001000397" "00014265" "30" "515" "6" "515" "6" "c.515+6C>T" "r.(=)" "p.(=)" "" "0001000398" "00014265" "50" "208" "0" "208" "0" "c.208G>T" "r.(?)" "p.(Val70Leu)" "" "0001000399" "00014265" "50" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Glu62Lys)" "" "0001015025" "00014265" "50" "4937" "0" "4937" "0" "c.4937C>T" "r.(?)" "p.(Thr1646Met)" "" "0001015026" "00014265" "50" "2890" "0" "2890" "0" "c.2890G>A" "r.(?)" "p.(Val964Met)" "" "0001039540" "00014265" "50" "3895" "0" "3895" "0" "c.3895A>G" "r.(?)" "p.(Thr1299Ala)" "" "0001039541" "00014265" "50" "3617" "0" "3617" "0" "c.3617T>C" "r.(?)" "p.(Ile1206Thr)" "" "0001039542" "00014265" "30" "3270" "-4" "3270" "-4" "c.3270-4G>A" "r.spl?" "p.?" "" "0001039543" "00014265" "50" "2242" "0" "2242" "0" "c.2242G>A" "r.(?)" "p.(Ala748Thr)" "" "0001039544" "00014265" "50" "2122" "0" "2122" "0" "c.2122C>T" "r.(?)" "p.(Arg708Cys)" "" "0001039545" "00014265" "30" "2119" "-4" "2119" "-4" "c.2119-4dup" "r.spl?" "p.?" "" "0001039546" "00014265" "30" "2119" "-7781" "2119" "-7781" "c.2119-7781A>G" "r.(=)" "p.(=)" "" "0001039547" "00014265" "70" "1784" "0" "1784" "0" "c.1784T>C" "r.(?)" "p.(Val595Ala)" "" "0001039548" "00014265" "30" "1627" "-4" "1627" "-4" "c.1627-4T>G" "r.spl?" "p.?" "" "0001045490" "00014265" "70" "3959" "0" "3959" "0" "c.3959C>T" "r.(?)" "p.(Thr1320Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 35 "{{screeningid}}" "{{variantid}}" "0000050292" "0000079244" "0000050292" "0000079272" "0000050293" "0000079245" "0000050293" "0000079273" "0000050312" "0000079292" "0000050312" "0000079643" "0000050346" "0000079326" "0000050346" "0000079649" "0000050347" "0000079327" "0000050347" "0000079650" "0000081064" "0000130150" "0000104339" "0000170831" "0000104340" "0000169019" "0000164515" "0000367750" "0000164515" "0000367751" "0000164515" "0000367752" "0000175289" "0000395160" "0000291998" "0000648687" "0000291999" "0000648688" "0000304086" "0000667484" "0000304086" "0000667591" "0000305520" "0000669208" "0000308354" "0000675312" "0000308372" "0000675330" "0000382017" "0000795651" "0000386683" "0000814363" "0000393099" "0000823707" "0000409283" "0000846413" "0000409307" "0000846449" "0000409307" "0000846450" "0000429636" "0000909221" "0000435119" "0000921056" "0000435119" "0000921082" "0000440069" "0000936381" "0000454382" "0000989186"