### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HIST1H4C) # 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}}" "HIST1H4C" "histone cluster 1, H4c" "6" "p22.1" "unknown" "NC_000006.11" "UD_132438708748" "" "https://www.LOVD.nl/HIST1H4C" "" "1" "4787" "8364" "602827" "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/HIST1H4C_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-03-02 10:54:53" "00000" "2025-05-05 21:14:00" ## 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}}" "00009390" "HIST1H4C" "histone cluster 1, H4c" "001" "NM_003542.3" "" "NP_003533.1" "" "" "" "1" "390" "312" "26104176" "26104565" "" "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" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06900" "TEVANED1" "Tessadori-van Haaften neurodevelopmental syndrome, type 1" "" "619758" "" "" "" "00006" "2022-03-02 10:54:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "HIST1H4C" "05611" "HIST1H4C" "06900" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00213096" "" "" "" "1" "" "00006" "{PMID:Tessadori 2017:28920961}" "2-generation family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "28920961-Pat1" "00213097" "" "" "" "2" "" "00006" "{PMID:Tessadori 2017:28920961}" "2-generation family, affected sisters" "F" "no" "Netherlands" "" "0" "" "" "" "28920961-FamPat2" "00213098" "" "" "00213097" "1" "" "00006" "{PMID:Tessadori 2017:28920961}" "Pat3" "F" "no" "Netherlands" "00y00m11d" "0" "" "" "" "28920961-FamPat3" "00404421" "" "" "" "1" "" "00006" "{PMID:Tessadori 2022:35202563}, {DOI:Tessadori 2022:10.1016/j.ajhg.2022.02.003}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat1" "00404422" "" "" "" "1" "" "00006" "{PMID:Tessadori 2022:35202563}, {DOI:Tessadori 2022:10.1016/j.ajhg.2022.02.003}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat2" "00404423" "" "" "" "1" "" "00006" "{PMID:Tessadori 2022:35202563}, {DOI:Tessadori 2022:10.1016/j.ajhg.2022.02.003}" "" "F" "" "United States" "" "0" "" "" "Jew-Ashkenazi" "Pat3" "00404424" "" "" "" "1" "" "00006" "{PMID:Tessadori 2022:35202563}, {DOI:Tessadori 2022:10.1016/j.ajhg.2022.02.003}" "" "M" "" "Thailand" "" "0" "" "" "Europe-N" "Pat4" "00404425" "" "" "" "1" "" "00006" "{PMID:Tessadori 2022:35202563}, {DOI:Tessadori 2022:10.1016/j.ajhg.2022.02.003}" "" "M" "" "Germany" "" "0" "" "" "Europe-M" "Pat5" "00404426" "" "" "" "1" "" "00006" "{PMID:Tessadori 2022:35202563}, {DOI:Tessadori 2022:10.1016/j.ajhg.2022.02.003}" "" "M" "" "United States" "" "0" "" "" "Hispanic" "Pat6" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00213096" "00198" "00213097" "00198" "00213098" "00198" "00404421" "05611" "00404422" "05611" "00404423" "05611" "00404424" "05611" "00404425" "05611" "00404426" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05611, 06900 ## Count = 9 "{{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}}" "0000161576" "00198" "00213096" "00006" "Isolated (sporadic)" "07y" "growth retardation, intellectual disability, microcephaly, hypotonia, upslanting palpebral fissures, bifid flat nasal tip, median ridge on philtrum, wide mouth, foot ray anomaly" "" "" "" "" "" "" "" "" "" "developmental syndrome" "" "0000161578" "00198" "00213097" "00006" "Familial, autosomal dominant" "13y" "growth retardation, intellectual disability, microcephaly, hypotonia, upslanting palpebral fissures, bifid flat nasal tip, median ridge on philtrum, wide mouth, foot ray anomaly (implantation\r\nfourth ray (bilateral))" "" "" "" "" "" "" "" "" "" "developmental syndrome" "" "0000161579" "00198" "00213098" "00006" "Familial, autosomal dominant" "00y00m11d" "growth retardation, microcephaly, no hypotonia, upslanting palpebral fissures, bifid flat nasal tip, foot ray anomaly (short fourth ray on the right foot); 11d-died from massive thrombosis" "" "" "" "" "" "" "" "" "" "developmental syndrome" "" "0000297013" "05611" "00404421" "00006" "Isolated (sporadic)" "13y8m" "small in utero; height 166.5 cm (+0.71 SD), weight 53 kg (+0.56 SD), OFC 53.3 cm (-1.49 SD); low muscle tone, tip toe walking; normal; mild intellectual disability, developmental delay, speech delay, social communication difficulties; prominent and wide nasal bridge, short columnella, thin vermillion of upper and lower lip, smooth philtrum, widely spaced teeth; no feeding problems; normal skin; no urogenital anomalies; sandal gap, 2-3 toe syndactyly; no hearing loss; myopia; normal haematopoiesis, normal iImmune functioning; na" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000297014" "05611" "00404422" "00006" "Isolated (sporadic)" "7y5m" "height 124 cm (-0.1 SD), weight 22 kg (-0.7 SD), OFC 50 cm (-2.36 SD); mild ataxia; MRI delayed myelination; mild dev delay, walking at 21 mths. Mild speech development delay, problems with word recognition, some attention problems; mild brachycephalic skull, mild dysmorphic features - round eyes (dark under eyelids), protruding ears, round nasal tip, large mouth with thin upper lip, large incisors; no feeding problems; normal skin; no urogenital anomalies; mild clinodactyly of 5th fingers; no hearing loss; hypermetropia;" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000297015" "05611" "00404423" "00006" "Isolated (sporadic)" "6y9m" "birth 38w length 50.8 cm (+1.2 SD)birth 38w length 50.8 cm (+1.2 SD), weight 2.89 kg (-0.26 SD), OFC 33 cm (-0.31 SD); height 123.7 cm (+.82 SD), weight 22 kg (-0.06 SD), OFC 49.5 cm (-2.48 SD; Hypotonia, autism, severe ADHD with atypical reactions (crying) to medication High tolerance for pain (but not recurrent injuries) Staring spells when younger - had EEG that was negative. She doesn\'t have these as often and responds to stimuli.; MRI no abnormalities, incidental cystic change of the pineal gland noted, normal MRS (left basal ganglia); Motor: sitting up 5-6 months, standing with support 6-7 months and then stopped doing it, stopped progressing in gross motor area. Between 8-10 months, she refused to put her feet on the ground, some regression. Slow to progress to crawling, late to cross midline. Started PT around 10-11 months of age with Early Intervention. 12 months of age, private physical therapist. Crawling at 12-13 months of age. Walking at 18 months. Fine motor seemed behind around 1 year of age. Delayed pincer grasp. Language delayed in learning words and speaking sentences. Neurology eval at 15 months. Very social baby and child. Made good eye contact, smiles, responsive, loves being around people. Arm flapping. Low-average IQ.; no facial dysmorphism; no feeding problems; normal skin; no urogenital anomalies; Required SMOs for pronated ankles; no hearing loss, not formally evaluated, no concerns; normal vision; normal haematopoiesis, normal iImmune functioning; most hyperactive (driven by a motor) children I\'ve seen" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000297016" "05611" "00404424" "00006" "Isolated (sporadic)" "13y6m" "birth 40w length 49 cm (-1.02 SD)birth 40w length 49 cm (-1.02 SD), weight 2.96 kg (-1.25 SD), OFC 33 cm (-1.73 SD); height 135.6 cm (-2.82 SD), weight 26.4 kg (-3.44 SD), OFC 49.5 cm (-3.74 SD); Cortical vision impairment, severe autism, normal power, poor coordination, no seizures; MRI toddler- brain and spine normal; Severe global dev delay. Walked 5 yrs. 13yrs; non-verbal, affectionate, not toilet trained. Occasionally feeds self.; Relative hypertelorism, long palpebral fissures, prominent epicanthal folds, eyebrows sparce laterally, low nasal bridge, broad nasal tip with ridge, wide philtrum, tented upper lip, small ears, overfolded helices, dental crowding, wide gap central incisors.; fed until 6 months, suddenly stopped and required NG tube feeding until 18 months old.; hydrocoele, minor chordee; bilateral talipes; flat tympanograms, hard wax obstructing canals; cortical vision impairment; persistent macrocytosis of unknown cause; dental crowding, wide gap central incisors.; mild dilatation of aortic root since 10yrs, mild mitral valve prolapse, very little subcutaneous fat. poor muscle development generally." "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000297017" "05611" "00404425" "00006" "Isolated (sporadic)" "5y1m" "birth 33+0w length 37 cm (-2.52 SD)*birth 33+0w length 37 cm (-2.52 SD)*, weight 1.24 kg (-2.52 SD)*, OFC 33 cm (+1.83 SD)*; height 92 cm (-3.7 SD), weight 11.5 kg (-3.97 SD), OFC 46.8 cm (-4.07 SD); muscle hypotonia; normal; severe intellectual disability and develomental delay, muscle hypotonia, seizures; upslanting palpebral fissures, periorbital fullness, bifid flat nasal tip, ptosis, hypertelorism, wide mouth; feeding difficulties; normal skin; coronal hypospadias, nondescended testes; Sagittal suture synostosis; no hearing loss; hyperopie, astigmatismus, LA Strabismus concergent intermittens; normal haematopoiesis, normal iImmune functioning; VSD I; unclear increased renal values with otherwise inconspicuous kidney imaging" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000297018" "05611" "00404426" "00006" "Isolated (sporadic)" "7y" "birth 40w length 46.4 cm (-2.32 SD)birth 40w length 46.4 cm (-2.32 SD), weight 2.872 kg (-1.44 SD), OFC 34.3 cm (-0.71 SD); height 113.4 cm (-1.65 SD), weight 19.1 kg (-1.51 SD), OFC 50 cm (at 6 yrs) (-2.07 SD); moderate hypotonia, autism spectrum disorder, borderline intellectual functioning; MRI nonspecifc scattered foci of T2 prolongation in the supratentorial white matter. Otherwise normal.; sat at 12 months, walked at 2 yrs. Age 2 had 35-45 words.; tented upper lip, marked facial flattening, right esotropia, dolichocephaly; no feeding problems; normal skin; no urogenital anomalies; no skeletal anomalies; conductive hearing loss; normal haematopoiesis, normal iImmune functioning; obstructive sleep apnea; borderline intellectual functioning, a provisional diagnosis of autism spectrum disorder, hypotonia, short stature and dysmorphic features. There has been some debate on whether or not he has strabismus" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000214171" "00213096" "1" "00006" "00006" "2019-01-09 19:36:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000214172" "00213097" "1" "00006" "00006" "2019-01-09 19:42:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000214173" "00213098" "1" "00006" "00006" "2019-01-09 19:48:47" "" "" "SEQ" "DNA" "" "" "0000405660" "00404421" "1" "00006" "00006" "2022-03-02 10:20:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405661" "00404422" "1" "00006" "00006" "2022-03-02 10:20:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405662" "00404423" "1" "00006" "00006" "2022-03-02 10:20:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405663" "00404424" "1" "00006" "00006" "2022-03-02 10:20:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405664" "00404425" "1" "00006" "00006" "2022-03-02 10:20:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405665" "00404426" "1" "00006" "00006" "2022-03-02 10:20:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000214171" "HIST1H4C" "0000214172" "HIST1H4C" "0000214173" "HIST1H4C" ## 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 = 22 "{{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}}" "0000283412" "0" "70" "6" "26104273" "26104273" "subst" "0" "02329" "HIST1H4C_000001" "g.26104273C>T" "" "" "" "H4C3(NM_003542.4):c.98C>T (p.P33L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26104045C>T" "" "likely pathogenic" "" "0000446103" "0" "90" "6" "26104449" "26104449" "subst" "0" "00006" "HIST1H4C_000002" "g.26104449A>C" "" "{PMID:Tessadori 2017:28920961}" "" "Lys91Gln" "" "De novo" "-" "" "0" "" "" "g.26104221A>C" "" "pathogenic (dominant)" "" "0000446104" "11" "90" "6" "26104450" "26104450" "subst" "0" "00006" "HIST1H4C_000003" "g.26104450A>G" "" "{PMID:Tessadori 2017:28920961}" "" "Lys91Arg" "father somatic mosaic" "Germline" "yes" "" "0" "" "" "g.26104222A>G" "" "pathogenic (dominant)" "" "0000446105" "11" "90" "6" "26104450" "26104450" "subst" "0" "00006" "HIST1H4C_000003" "g.26104450A>G" "" "{PMID:Tessadori 2017:28920961}" "" "" "" "Germline" "yes" "" "0" "" "" "g.26104222A>G" "" "pathogenic (dominant)" "" "0000446106" "21" "10" "6" "26104448" "26104448" "subst" "0.333341" "00006" "HIST1H4C_000004" "g.26104448A>G" "" "{PMID:Tessadori 2017:28920961}" "" "" "" "Germline" "" "rs198852" "0" "" "" "g.26104220A>G" "" "benign" "" "0000446107" "21" "10" "6" "26104448" "26104448" "subst" "0.333341" "00006" "HIST1H4C_000004" "g.26104448A>G" "" "{PMID:Tessadori 2017:28920961}" "" "" "" "Germline" "" "rs198852" "0" "" "" "g.26104220A>G" "" "benign" "" "0000446108" "0" "10" "6" "26104446" "26104446" "subst" "0.00133765" "00006" "HIST1H4C_000005" "g.26104446C>T" "" "{PMID:Tessadori 2017:28920961}" "" "" "" "Germline" "" "rs61735681" "0" "" "" "g.26104218C>T" "" "benign" "" "0000677709" "0" "30" "6" "26107860" "26107860" "subst" "1.62521E-5" "01943" "HIST1H1T_000003" "g.26107860C>T" "" "" "" "HIST1H1T(NM_005323.3):c.462G>A (p.K154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677710" "0" "30" "6" "26107979" "26107979" "subst" "4.06918E-6" "01943" "HIST1H1T_000004" "g.26107979C>T" "" "" "" "HIST1H1T(NM_005323.3):c.343G>A (p.V115M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000841769" "0" "90" "6" "26104272" "26104272" "subst" "0" "00006" "HIST1H4C_000006" "g.26104272C>G" "" "{PMID:Tessadori 2022:35202563}, {DOI:Tessadori 2022:10.1016/j.ajhg.2022.02.003}" "" "" "" "De novo" "" "" "0" "" "" "g.26104044C>G" "" "pathogenic (dominant)" "" "0000841770" "0" "90" "6" "26104273" "26104273" "subst" "0" "00006" "HIST1H4C_000001" "g.26104273C>T" "" "{PMID:Tessadori 2022:35202563}, {DOI:Tessadori 2022:10.1016/j.ajhg.2022.02.003}" "" "" "" "De novo" "" "" "0" "" "" "g.26104045C>T" "" "pathogenic (dominant)" "" "0000841771" "0" "90" "6" "26104273" "26104273" "subst" "0" "00006" "HIST1H4C_000001" "g.26104273C>T" "" "{PMID:Tessadori 2022:35202563}, {DOI:Tessadori 2022:10.1016/j.ajhg.2022.02.003}" "" "" "" "De novo" "" "" "0" "" "" "g.26104045C>T" "" "pathogenic (dominant)" "" "0000841772" "0" "90" "6" "26104449" "26104449" "subst" "0" "00006" "HIST1H4C_000002" "g.26104449A>C" "" "{PMID:Tessadori 2022:35202563}, {DOI:Tessadori 2022:10.1016/j.ajhg.2022.02.003}" "" "" "" "De novo" "" "" "0" "" "" "g.26104221A>C" "" "pathogenic (dominant)" "" "0000841773" "0" "90" "6" "26104449" "26104449" "subst" "0" "00006" "HIST1H4C_000002" "g.26104449A>C" "" "{PMID:Tessadori 2022:35202563}, {DOI:Tessadori 2022:10.1016/j.ajhg.2022.02.003}" "" "" "" "De novo" "" "" "0" "" "" "g.26104221A>C" "" "pathogenic (dominant)" "" "0000841774" "0" "90" "6" "26104449" "26104449" "subst" "0" "00006" "HIST1H4C_000002" "g.26104449A>C" "" "{PMID:Tessadori 2022:35202563}, {DOI:Tessadori 2022:10.1016/j.ajhg.2022.02.003}" "" "" "" "De novo" "" "" "0" "" "" "g.26104221A>C" "" "pathogenic (dominant)" "" "0000851151" "0" "50" "6" "26104456" "26104457" "del" "6.91856E-5" "02325" "HIST1H1T_000005" "g.26104456_26104457del" "" "" "" "H4C3(NM_003542.4):c.281_282delAG (p.Q94Rfs*?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924462" "0" "50" "6" "26104342" "26104342" "subst" "0" "02327" "HIST1H1T_000006" "g.26104342G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995603" "0" "50" "6" "26104477" "26104477" "dup" "0" "01804" "HIST1H1T_000007" "g.26104477dup" "" "" "" "HIST1H4C(NM_003542.3):c.302dupT (p.(Gly102fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995604" "0" "50" "6" "26107823" "26107823" "subst" "8.1248E-6" "01804" "HIST1H1T_000008" "g.26107823C>A" "" "" "" "HIST1H1T(NM_005323.3):c.499G>T (p.(Gly167Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995605" "0" "30" "6" "26108299" "26108299" "subst" "0.000170762" "01804" "HIST1H1T_000009" "g.26108299G>A" "" "" "" "HIST1H1T(NM_005323.3):c.23C>T (p.(Ala8Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025199" "0" "50" "6" "26104188" "26104188" "subst" "4.08604E-6" "02325" "HIST1H1T_000010" "g.26104188G>A" "" "" "" "H4C3(NM_003542.4):c.13G>A (p.G5S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035646" "0" "30" "6" "26104443" "26104443" "subst" "0.000325235" "01804" "HIST1H1T_000011" "g.26104443G>T" "" "" "" "HIST1H4C(NM_003542.4):c.268G>T (p.(Ala90Ser))" "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 HIST1H4C ## Count = 22 "{{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}}" "0000283412" "00009390" "70" "98" "0" "98" "0" "c.98C>T" "r.(?)" "p.(Pro33Leu)" "" "0000446103" "00009390" "90" "274" "0" "274" "0" "c.274A>C" "r.(?)" "p.(Lys92Gln)" "" "0000446104" "00009390" "90" "275" "0" "275" "0" "c.275A>G" "r.(?)" "p.(Lys92Arg)" "" "0000446105" "00009390" "90" "275" "0" "275" "0" "c.275A>G" "r.(?)" "p.(Lys92Arg)" "" "0000446106" "00009390" "10" "273" "0" "273" "0" "c.273A>G" "r.(=)" "p.(=)" "" "0000446107" "00009390" "10" "273" "0" "273" "0" "c.273A>G" "r.(=)" "p.(=)" "" "0000446108" "00009390" "10" "271" "0" "271" "0" "c.271C>T" "r.(=)" "p.(=)" "" "0000677709" "00009390" "30" "3685" "0" "3685" "0" "c.*3373C>T" "r.(=)" "p.(=)" "" "0000677710" "00009390" "30" "3804" "0" "3804" "0" "c.*3492C>T" "r.(=)" "p.(=)" "" "0000841769" "00009390" "90" "97" "0" "97" "0" "c.97C>G" "r.(?)" "p.(Pro33Ala)" "" "0000841770" "00009390" "90" "98" "0" "98" "0" "c.98C>T" "r.(?)" "p.(Pro33Leu)" "" "0000841771" "00009390" "90" "98" "0" "98" "0" "c.98C>T" "r.(?)" "p.(Pro33Leu)" "" "0000841772" "00009390" "90" "274" "0" "274" "0" "c.274A>C" "r.(?)" "p.(Lys92Gln)" "" "0000841773" "00009390" "90" "274" "0" "274" "0" "c.274A>C" "r.(?)" "p.(Lys92Gln)" "" "0000841774" "00009390" "90" "274" "0" "274" "0" "c.274A>C" "r.(?)" "p.(Lys92Gln)" "" "0000851151" "00009390" "50" "281" "0" "282" "0" "c.281_282del" "r.(?)" "p.(Gln94Argfs*?)" "" "0000924462" "00009390" "50" "167" "0" "167" "0" "c.167G>A" "r.(?)" "p.(Arg56Gln)" "" "0000995603" "00009390" "50" "302" "0" "302" "0" "c.302dup" "r.(?)" "p.(Gly102Argfs*?)" "" "0000995604" "00009390" "50" "3648" "0" "3648" "0" "c.*3336C>A" "r.(=)" "p.(=)" "" "0000995605" "00009390" "30" "4124" "0" "4124" "0" "c.*3812G>A" "r.(=)" "p.(=)" "" "0001025199" "00009390" "50" "13" "0" "13" "0" "c.13G>A" "r.(?)" "p.(Gly5Ser)" "" "0001035646" "00009390" "30" "268" "0" "268" "0" "c.268G>T" "r.(?)" "p.(Ala90Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000214171" "0000446103" "0000214171" "0000446108" "0000214172" "0000446104" "0000214172" "0000446106" "0000214173" "0000446105" "0000214173" "0000446107" "0000405660" "0000841769" "0000405661" "0000841770" "0000405662" "0000841771" "0000405663" "0000841772" "0000405664" "0000841773" "0000405665" "0000841774"