### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HNRNPK) # 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}}" "HNRNPK" "heterogeneous nuclear ribonucleoprotein K" "9" "q21.32-q21.33" "unknown" "NG_029577.1" "UD_132085337120" "" "https://www.LOVD.nl/HNRNPK" "" "1" "5044" "3190" "600712" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/HNRNPK_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-04-02 13:53:04" "00000" "2025-11-01 13:22:20" ## 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}}" "00009517" "HNRNPK" "transcript variant 1" "002" "NM_002140.3" "" "NP_002131.2" "" "" "" "-259" "2719" "1395" "86595569" "86582998" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "05714" "AUKS" "Au-Kline syndrome (AUKS)" "AD" "616580" "" "hypotonia, developmental delay, moderate‐to‐severe intellectual disability, facial dysmorphic features, autonomic dysfunction, congenital heart disease, hydronephrosis, palate abnormalities, oligodontia, inconstant craniosynostosis or other skeletal anomalies" "" "00006" "2020-04-02 13:32:46" "00006" "2021-12-10 21:51:32" "05715" "Okamoto" "Okamoto syndrome" "AD" "604916" "" "severe intellectual disability, generalized hypotonia, stenosis ureteropelvic junction with hydronephrosis, cardiac anomalies, characteristic facial gestalt" "" "00006" "2020-04-02 13:50:39" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "HNRNPK" "05714" "HNRNPK" "05715" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00229587" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00296017" "" "" "" "1" "" "00006" "{DOI:Au 2015:26173930}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Canada" "" "0" "" "" "" "Pat1" "00296018" "" "" "" "1" "" "00006" "{DOI:Au 2015:26173930}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat2" "00296019" "" "" "" "1" "" "00006" "{DOI:Maystadt 2020:32222014}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Belgium" "" "0" "" "" "white;Thailand" "patient" "00296020" "" "" "" "1" "" "00006" "{PMID:Okamoto 2019:30793470}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Japan" "" "0" "" "" "" "patient" "00296021" "" "" "" "1" "" "00006" "{PMID:Pua 2014:24501764}" "" "F" "no" "Mexico" "" "0" "" "" "" "patient" "00296022" "" "" "" "1" "" "00006" "{PMID:Hancarova 2015:25348648}" "" "F" "" "Czech Republic" "" "0" "" "" "" "patient" "00300649" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00229587" "00198" "00296017" "05714" "00296018" "05714" "00296019" "05715" "00296020" "05715" "00296021" "00198" "00296022" "00198" "00300649" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05714, 05715 ## Count = 8 "{{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}}" "0000172853" "00198" "00229587" "01807" "Unknown" "" "Cleft palate (HP:0000175); Atrial septal defect (HP:0001631); Global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "0000223484" "05714" "00296017" "00006" "Isolated (sporadic)" "13y" "birth weight 50th%, length 10-50th%, head circumference 10-50th%; 13y weight 10th%, length >10th%, head circumference >50th%; ridged metopic suture, dolicocephaly sagittal and lambdoid craniosynostosis, long face; long downslanting palpebral fissures proptosis, ptosis broad lateral eyebrows; underdeveloped helices hearing loss (conductive and sensorineural); wide nasal ridge, hypoplastic alae nasi; open bite, downturned mouth, high palate, bifid uvula prominent midline groove of tongue missing molar; widely spaced nipples; 2 small ventricular septal defects; constipation in early childhood; cryptochordism; hip dysplasia, scoliosis extra lumbar vertebrae and multiple vertebral segmentation defects, elbow contractures; planovalgus feet, large hallux, crowded toes, decreased creases on feet; sacral dimple with coccygeal appendage, decreased sweating, intermittent facial rash; hypotonia, hyporeflexia, high pain tolerance; mild intellectual disability, walks independently, commnicates with many words, short phrases and uses signs and devices; normal brain syrinx T7-T9,T12, terminal lipomyelomeningocele" "" "" "" "" "" "" "" "" "" "Au-Kline syndrome" "" "0000223485" "05714" "00296018" "00006" "Isolated (sporadic)" "28y" "birth weight 90th%, length >95th%, head circumference 75th%; 9y weight 50th%, length 50-75th%, head circumference 75th%; ridged metopic suture, turricephaly long face; hyperopia long palpebral fissures, ptosis optic nerve pit, megalocornea, lagophthalmos, sparse lateral eyebrows; underdeveloped thick helices; wide nasal ridge, cleft of alae nasi; open, downturned mouth high palate, normal uvula prominent midline groove / bifid tongue missing molar and incisor; pectus excavatum, inverted nipples, supernumerary nipples; bicuspid aortic valve aortic root dilation; gastroesophageal reflux, cyclic vomiting, constipation, GI dysmotility, G-tube fed; crytopchordism, vesicoureteral reflux, neurogenic bladder hydronephrosis; hip dysplasia, scoliosis, extra lumbar vertebrae, hyperextensible; post axial polydactyly overlapping toes; sacral dimple decreased sweating, intermittent rash; hypotonia, hyporeflexia, high pain tolerance, migraine; mild-moderate intellectual disability, ADHD, walks with assistance, communicates with few words, many signs, and uses devices; hypomyelination" "" "" "" "" "" "" "" "" "" "Au-Kline syndrome" "" "0000223486" "05715" "00296019" "00006" "Isolated (sporadic)" "10y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Okamoto syndrome" "" "0000223487" "05715" "00296020" "00006" "Isolated (sporadic)" "5y" "birth 35w gestation, weight was 3,340g, length 48cm, head circumference 33.6cm; 5y-length was 96.6cm (−2.5SD), weight 14.7kg (−1.4SD), head circumference 53 cm (+1.4SD); lumbar scoliosis, no craniosynostosis; MRI brain cerebral atrophy; intellecutual disability (language delay); motor delay, hypotonia; no microcephaly; no craniosynostosis; metopic ridge; no nodular heterotopia; no hypoplastic corpus callosum; no spinal syrinx; midface hypoplasia; hypertrichosis; long palpebral fissures; ptosis; prominent eyes; no optic nerve abnormality; broad nasal bridge with hypoplastic alae nasi; downturned beaked mouth; no preaulicular pits; abnormal helix; no hearing loss; cleft palate; maloccclusion/open bite; open mouth/wide mouth; midline groove tongue; webbed neck; hydronephrosis/vesicoureteral reflux; stenosis of ureteropelvic junction; no cryptorchidism; cardiac anomaly; gastrointestinal anomaly, omphalocele; loose hypermobile joints; no vertebral segmentation abnormality; scoliosis; congenital hip dysplasia; talipes; no polydactyly" "" "" "" "" "" "" "" "" "" "Okamoto syndrome" "" "0000223488" "00198" "00296021" "00006" "Isolated (sporadic)" "00y06m" "birth weight <50%, length 10%, head circumference 25%; 6m, head circumference <3%; broad face low anterior hairline; epicanthal folds; low set, cupped right ear; depressed nasal tip; cleft soft palate; large atrial septal defect, respiratory difficulty; uterine didelphys; hip dysplasia, proximal upper extremity and distal lower extremity shortening; hindfoot deformity; hypotonia; severe delay; thalamostriate vasculopathy, thin corpus callosum, hypomyelination" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" "0000223489" "00198" "00296022" "00006" "Isolated (sporadic)" "13y" "birth weight <50%, length 25%, head circumference <10%; 13y weight <3%, length <3%, head circumference <3%; narrow forehead low posterior hairline; hypermetropia long downslanting palpebral fissures; large, low set ears; wide nasal ridge; open bite, large downturned mouth; atrioventricular septal defect, R atrial hemangioma; vesicoureteral reflux; hip dysplasia; single palmar crease talipes equinovarus, overlapping toes; hypotonia, later spasticity; severe intellectual disability" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000227960" "00198" "00300649" "01807" "Unknown" "" "Cryptorchidism (HP:0000028); Testicular atrophy (HP:0000029); Ureteral stenosis (HP:0000071); Vesicoureteral reflux (HP:0000076); Facial hypotonia (HP:0000297); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Joint hypermobility (HP:0001382); Hip dysplasia (HP:0001385); Abnormal facial shape (HP:0001999); Nail dysplasia (HP:0002164); Areflexia of lower limbs (HP:0002522); Genu recurvatum (HP:0002816); Short stature (HP:0004322); Pes valgus (HP:0008081)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000230680" "00229587" "1" "01807" "01807" "2019-04-04 11:13:32" "" "" "SEQ" "DNA" "" "" "0000297190" "00296017" "1" "00006" "00006" "2020-04-02 14:56:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297191" "00296018" "1" "00006" "00006" "2020-04-02 14:56:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297192" "00296019" "1" "00006" "00006" "2020-04-02 14:56:11" "" "" "SEQ;SEQ-NG" "DNA;RNA" "blood" "WES" "0000297193" "00296020" "1" "00006" "00006" "2020-04-02 14:56:11" "" "" "SEQ" "DNA" "" "" "0000297194" "00296021" "1" "00006" "00006" "2020-04-02 15:07:36" "" "" "arrayCGH" "DNA" "" "" "0000297195" "00296022" "1" "00006" "00006" "2020-04-02 15:19:19" "" "" "arrayCGH" "DNA" "" "CytoSNP‐12 BeadChips, Illumina" "0000301770" "00300649" "1" "01807" "01807" "2020-05-04 10:36:01" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000297190" "HNRNPK" "0000297191" "HNRNPK" "0000297192" "HNRNPK" "0000297193" "HNRNPK" "0000297194" "HNRNPK" "0000297195" "HNRNPK" ## 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 = 27 "{{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}}" "0000250526" "0" "90" "9" "86585650" "86585650" "subst" "0" "02329" "HNRNPK_000001" "g.86585650A>G" "" "" "" "HNRNPK(NM_002140.5):c.1191+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83970735A>G" "" "pathogenic" "" "0000289147" "0" "50" "9" "86590381" "86590381" "subst" "0" "01943" "HNRNPK_000002" "g.86590381C>T" "" "" "" "HNRNPK(NM_002140.4):c.253G>A (p.E85K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83975466C>T" "" "VUS" "" "0000472269" "0" "70" "9" "86590381" "86590381" "subst" "0" "01807" "HNRNPK_000002" "g.86590381C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.83975466C>T" "" "likely pathogenic" "" "0000538596" "0" "70" "9" "86586606" "86586606" "subst" "0" "02327" "HNRNPK_000004" "g.86586606C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83971691C>T" "" "likely pathogenic" "" "0000538597" "0" "30" "9" "86586955" "86586955" "subst" "0" "01943" "HNRNPK_000005" "g.86586955A>G" "" "" "" "HNRNPK(NM_002140.4):c.795T>C (p.P265=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83972040A>G" "" "likely benign" "" "0000538598" "0" "70" "9" "86590426" "86590426" "subst" "0" "02327" "HNRNPK_000006" "g.86590426T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83975511T>C" "" "likely pathogenic" "" "0000538599" "0" "50" "9" "86592624" "86592624" "subst" "0" "01943" "HNRNPK_000007" "g.86592624G>A" "" "" "" "HNRNPK(NM_002140.4):c.136C>T (p.R46C), HNRNPK(NM_002140.5):c.136C>T (p.R46C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83977709G>A" "" "VUS" "" "0000659814" "0" "90" "9" "86586801" "86586801" "dup" "0" "00006" "HNRNPK_000008" "g.86586801dup" "" "{DOI:Au 2015:26173930}" "" "" "" "De novo" "" "" "0" "" "" "g.83971886dup" "{CV-SCV:000223814}" "pathogenic (dominant)" "" "0000659815" "0" "90" "9" "86590377" "86590377" "subst" "0" "00006" "HNRNPK_000009" "g.86590377C>T" "" "{DOI:Au 2015:26173930}" "" "" "" "De novo" "" "" "0" "" "" "g.83975462C>T" "{CV-SCV:000223813}" "pathogenic (dominant)" "" "0000659816" "0" "90" "9" "86590372" "86590372" "subst" "0" "00006" "HNRNPK_000013" "g.86590372C>T" "" "{PMID:Park 2020:31439721}" "" "2036G>A" "up‐regulation isoform lacking exon" "De novo" "" "" "0" "" "" "g.83975457C>T" "" "pathogenic (dominant)" "" "0000659817" "0" "90" "9" "86585076" "86585076" "subst" "0" "00006" "HNRNPK_000012" "g.86585076C>T" "" "{PMID:Okamoto 2019:30793470}" "" "" "" "De novo" "" "" "0" "" "" "g.83970161C>T" "" "pathogenic (dominant)" "" "0000659818" "0" "90" "9" "85504717" "88069314" "del" "0" "00006" "HNRNPK_000010" "g.(85450000_85504717)_(88069314_88100000)del" "" "{PMID:Pua 2014:24501764}" "" "hg18 chr9:84,694,537–87,259,134del" "2.6 Mb deletion of 9q21.32q21.33" "De novo" "" "" "0" "" "46,XX" "" "" "likely pathogenic (dominant)" "" "0000659819" "0" "90" "9" "0" "0" "" "0" "00006" "HNRNPK_000011" "g.(86369356_86595071)_(88357495_88477869)" "" "{PMID:Hancarova 2015:25348648}" "" "" "2 Mb deletion" "Germline/De novo (untested)" "" "" "0" "" "arr[hg19] 9q21.32–q21.33 (86,369,356x2,86,595,071–88,357,495x1,88,477,869x2)dn" "" "" "likely pathogenic (dominant)" "" "0000664843" "0" "70" "9" "86585165" "86585165" "subst" "0" "01807" "HNRNPK_000014" "g.86585165C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.83970250C>A" "" "likely pathogenic" "" "0000722580" "0" "50" "9" "86592653" "86592653" "subst" "4.07707E-6" "01943" "HNRNPK_000015" "g.86592653G>C" "" "" "" "HNRNPK(NM_002140.4):c.107C>G (p.S36C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852322" "0" "50" "9" "86586235" "86586235" "subst" "1.21857E-5" "02325" "HNRNPK_000016" "g.86586235T>C" "" "" "" "HNRNPK(NM_002140.5):c.1045A>G (p.I349V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965515" "0" "30" "9" "86586259" "86586259" "subst" "4.87476E-5" "02325" "HNRNPK_000017" "g.86586259C>T" "" "" "" "HNRNPK(NM_002140.5):c.1021G>A (p.A341T), HNRNPK(NM_031263.2):c.1021G>A (p.(Ala341Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978779" "0" "50" "9" "86585084" "86585084" "subst" "0" "01804" "HNRNPK_000018" "g.86585084G>A" "" "" "" "HNRNPK(NM_031263.4):c.1354C>T (p.(Gln452*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978781" "0" "30" "9" "86587767" "86587767" "subst" "1.72897E-5" "01804" "HNRNPK_000020" "g.86587767T>C" "" "" "" "HNRNPK(NM_031263.4):c.637A>G (p.(Ile213Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978782" "0" "30" "9" "86593366" "86593366" "subst" "0" "01804" "HNRNPK_000021" "g.86593366G>A" "" "" "" "HNRNPK(NM_031263.4):c.-106C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978783" "0" "30" "9" "86615956" "86615956" "subst" "0.000912112" "01804" "HNRNPK_000022" "g.86615956C>T" "" "" "" "RMI1(NM_001358291.2):c.55C>T (p.(His19Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978784" "0" "50" "9" "86616711" "86616711" "del" "0" "01804" "HNRNPK_000023" "g.86616711del" "" "" "" "RMI1(NM_001358291.2):c.810del (p.(Thr271GlnfsTer36))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997977" "0" "30" "9" "86586259" "86586259" "subst" "4.87476E-5" "01804" "HNRNPK_000017" "g.86586259C>T" "" "" "" "HNRNPK(NM_002140.5):c.1021G>A (p.A341T), HNRNPK(NM_031263.2):c.1021G>A (p.(Ala341Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997978" "0" "70" "9" "86592624" "86592624" "subst" "0" "02325" "HNRNPK_000007" "g.86592624G>A" "" "" "" "HNRNPK(NM_002140.4):c.136C>T (p.R46C), HNRNPK(NM_002140.5):c.136C>T (p.R46C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001037593" "0" "30" "9" "86616443" "86616443" "subst" "0.000656982" "01804" "HNRNPK_000024" "g.86616443T>C" "" "" "" "RMI1(NM_001358291.2):c.542T>C (p.(Leu181Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046213" "0" "50" "9" "86588263" "86588263" "subst" "0" "02326" "HNRNPK_000025" "g.86588263G>A" "" "" "" "HNRNPK(NM_002140.4):c.454C>T (p.H152Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053274" "0" "30" "9" "86593370" "86593370" "subst" "0" "01804" "HNRNPK_000026" "g.86593370A>G" "" "" "" "HNRNPK(NM_031263.4):c.-107-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes HNRNPK ## Count = 27 "{{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}}" "0000250526" "00009517" "90" "1191" "2" "1191" "2" "c.1191+2T>C" "r.spl?" "p.?" "" "0000289147" "00009517" "50" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Glu85Lys)" "" "0000472269" "00009517" "70" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Glu85Lys)" "" "0000538596" "00009517" "70" "989" "0" "989" "0" "c.989G>A" "r.(?)" "p.(Gly330Glu)" "" "0000538597" "00009517" "30" "795" "0" "795" "0" "c.795T>C" "r.(?)" "p.(Pro265=)" "" "0000538598" "00009517" "70" "214" "-6" "214" "-6" "c.214-6A>G" "r.(=)" "p.(=)" "" "0000538599" "00009517" "50" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46Cys)" "" "0000659814" "00009517" "90" "953" "1" "953" "1" "c.953+1dup" "r.spl" "p.?" "" "0000659815" "00009517" "90" "257" "0" "257" "0" "c.257G>A" "r.spl?" "p.(Arg86His)" "" "0000659816" "00009517" "90" "257" "5" "257" "5" "c.257+5G>A" "r.[257_258ins[guaua;257+6_257+49],214_257del]" "p.[Ile87Tyrfs*12,Tyr72Hisfs*7]" "" "0000659817" "00009517" "90" "1361" "1" "1361" "1" "c.1361+1G>A" "r.spl" "p.?" "" "0000659818" "00009517" "90" "0" "0" "0" "0" "c.-259_*1324[0]" "r.0" "p.0" "_1_17_" "0000659819" "00009517" "90" "0" "0" "0" "0" "c.(-259_-111)_*1324[0]" "r.0" "p.0" "_1_17_" "0000664843" "00009517" "70" "1273" "0" "1273" "0" "c.1273G>T" "r.(?)" "p.(Glu425*)" "" "0000722580" "00009517" "50" "107" "0" "107" "0" "c.107C>G" "r.(?)" "p.(Ser36Cys)" "" "0000852322" "00009517" "50" "1045" "0" "1045" "0" "c.1045A>G" "r.(?)" "p.(Ile349Val)" "" "0000965515" "00009517" "30" "1021" "0" "1021" "0" "c.1021G>A" "r.(?)" "p.(Ala341Thr)" "" "0000978779" "00009517" "50" "1354" "0" "1354" "0" "c.1354C>T" "r.(?)" "p.(Gln452*)" "" "0000978781" "00009517" "30" "637" "0" "637" "0" "c.637A>G" "r.(?)" "p.(Ile213Val)" "" "0000978782" "00009517" "30" "-106" "0" "-106" "0" "c.-106C>T" "r.(?)" "p.(=)" "" "0000978783" "00009517" "30" "-20646" "0" "-20646" "0" "c.-20646G>A" "r.(?)" "p.(=)" "" "0000978784" "00009517" "50" "-21400" "0" "-21400" "0" "c.-21400del" "r.(?)" "p.(=)" "" "0000997977" "00009517" "30" "1021" "0" "1021" "0" "c.1021G>A" "r.(?)" "p.(Ala341Thr)" "" "0000997978" "00009517" "70" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46Cys)" "" "0001037593" "00009517" "30" "-21133" "0" "-21133" "0" "c.-21133A>G" "r.(?)" "p.(=)" "" "0001046213" "00009517" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(His152Tyr)" "" "0001053274" "00009517" "30" "-107" "-3" "-107" "-3" "c.-107-3T>C" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000230680" "0000472269" "0000297190" "0000659814" "0000297191" "0000659815" "0000297192" "0000659816" "0000297193" "0000659817" "0000297194" "0000659818" "0000297195" "0000659819" "0000301770" "0000664843"