### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZNF462) # 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}}" "ZNF462" "zinc finger protein 462" "9" "q31.3" "unknown" "NC_000009.11" "UD_132609673696" "" "https://www.LOVD.nl/ZNF462" "" "1" "21684" "58499" "617371" "1" "1" "1" "1" "Alias KIAA1803.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/ZNF462_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-02-08 10:34:40" "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}}" "00023456" "ZNF462" "zinc finger protein 462" "001" "NM_021224.4" "" "NP_067047.4" "" "" "" "-289" "8017" "7521" "109625378" "109773807" "" "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" "06833" "WSKA" "Weiss-Kruszka syndrome" "AD" "618619" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ZNF462" "06833" ## Individuals ## Do not remove or alter this header ## ## Count = 26 "{{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}}" "00096028" "" "" "" "5" "" "01894" "{PMID:Weiss 2017:28513610}, {DOI:Weiss 2017:10.1038/ejhg.2017.86}" "4-generation family, 5 affected (3F, 2M)" "F" "" "Germany" "" "0" "" "" "" "Fam1PatVI1" "00096029" "" "" "" "1" "" "01894" "{PMID:Weiss 2017:28513610}, {DOI:Weiss 2017:10.1038/ejhg.2017.86}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "Fam2PatII1" "00096030" "" "" "" "1" "" "01894" "{PMID:Weiss 2017:28513610}, {DOI:Weiss 2017:10.1038/ejhg.2017.86}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Fam3PatII1" "00100323" "" "" "" "1" "" "01894" "{PMID:Weiss 2017:28513610}, {DOI:Weiss 2017:10.1038/ejhg.2017.86}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Fam6PatII1" "00447968" "" "" "" "3" "cc_by-nc-nd_4.0;0" "04644" "" "" "?" "yes" "China" "" "0" "" "" "" "" "00447969" "" "" "" "1" "cc_by-nc-nd_4.0;0" "04644" "" "" "M" "" "China" "" "0" "" "" "" "" "00447973" "" "" "00096028" "1" "" "00006" "{PMID:Weiss 2017:28513610}, {DOI:Weiss 2017:10.1038/ejhg.2017.86}" "sister" "F" "" "Germany" "" "0" "" "" "" "Fam1PatIV2" "00447974" "" "" "00096028" "1" "" "00006" "{PMID:Weiss 2017:28513610}, {DOI:Weiss 2017:10.1038/ejhg.2017.86}" "father" "M" "" "Germany" "" "0" "" "" "" "Fam1PatIII2" "00447975" "" "" "" "1" "" "00006" "{PMID:Weiss 2017:28513610}, {DOI:Weiss 2017:10.1038/ejhg.2017.86}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Norway" "" "0" "" "" "" "Fam4PatII1" "00447976" "" "" "" "1" "" "00006" "{PMID:Weiss 2017:28513610}, {DOI:Weiss 2017:10.1038/ejhg.2017.86" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Sweden" "" "0" "" "" "" "Fam5PatII1" "00447978" "" "" "" "1" "" "00006" "{PMID:Kruszka 2019:31361404}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "Asia;white" "Pat1" "00447979" "" "" "" "1" "" "00006" "{PMID:Kruszka 2019:31361404}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "white" "Pat2" "00447980" "" "" "" "1" "" "00006" "{PMID:Kruszka 2019:31361404}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "white" "Pat3" "00447981" "" "" "" "1" "" "00006" "{PMID:Kruszka 2019:31361404}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "Latin American" "Pat4" "00447982" "" "" "" "1" "" "00006" "{PMID:Kruszka 2019:31361404}" "2-generation family, 1 affected, heterozygous carrier father" "F" "" "" "" "0" "" "" "" "Pat5" "00447983" "" "" "" "1" "" "00006" "{PMID:Kruszka 2019:31361404}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat6" "00447984" "" "" "" "1" "" "00006" "{PMID:Kruszka 2019:31361404}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat7" "00447985" "" "" "" "1" "" "00006" "{PMID:Kruszka 2019:31361404}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat8" "00447986" "" "" "" "1" "" "00006" "{PMID:Kruszka 2019:31361404}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat9" "00447987" "" "" "" "1" "" "00006" "{PMID:Kruszka 2019:31361404}" "2-generation family, 1 affected" "M" "" "" "" "0" "" "" "" "Pat10" "00447988" "" "" "" "1" "" "00006" "{PMID:Kruszka 2019:31361404}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat11" "00447989" "" "" "" "1" "" "00006" "{PMID:Kruszka 2019:31361404}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat12" "00447990" "" "" "" "1" "" "00006" "{PMID:Kruszka 2019:31361404}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat13" "00447991" "" "" "" "1" "" "00006" "{PMID:Kruszka 2019:31361404}" "2-generation family, 1 affected, unaffected non-carriermother" "F" "" "" "" "0" "" "" "" "Pat14" "00447992" "" "" "" "1" "" "00006" "{PMID:Ramocki 2003:12825074}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "patient" "00447994" "" "" "" "1" "" "00006" "{PMID:Cosemans 2018:29427787}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Belgium" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 26 "{{individualid}}" "{{diseaseid}}" "00096028" "00198" "00096029" "00198" "00096030" "00198" "00100323" "00198" "00447968" "06833" "00447969" "06833" "00447973" "00198" "00447974" "00198" "00447975" "00198" "00447976" "00198" "00447978" "05611" "00447979" "05611" "00447980" "05611" "00447981" "05611" "00447982" "05611" "00447983" "05611" "00447984" "05611" "00447985" "05611" "00447986" "05611" "00447987" "05611" "00447988" "05611" "00447989" "05611" "00447990" "05611" "00447991" "05611" "00447992" "00198" "00447994" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05611, 06833 ## Count = 26 "{{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}}" "0000074304" "00198" "00096028" "01894" "Familial, autosomal dominant" "02y" "see paper; ..., birth weight 3.7 kg (96%ile)/35.5 cm (96%ile); 8m height 70 cm (75%ile), OFC 47 cm (97%ile); no developmental delay, no autism spectrum disorder; no hypotonia; metopic ridge; corpus callosum dysgenesis; ptosis; down slanting palpebral fissures; arched eyebrows; no epicanthal folds; short upturned nose with bulbous tip; marked cupid bow/wide philtrum" "" "" "" "" "" "" "" "" "WSKA" "" "" "0000074305" "00198" "00096029" "01894" "Isolated (sporadic)" "02y" "see paper; ..., birth weight 3.2 kg (40%ile); height 91 cm (27%ile), OFC 50.5 cm (56%ile); developmental delay, autism spectrum disorder; no hypotonia; metopic ridge; no corpus callosum dysgenesis; ptosis; down slanting palpebral fissures; arched eyebrows; epicanthal folds; short upturned nose with bulbous tip; no marked cupid bow/wide philtrum" "" "" "" "" "" "" "" "" "WSKA" "" "" "0000074306" "00198" "00096030" "01894" "Isolated (sporadic)" "00y19m" "see paper; ..., birth weight 3.2 kg (36%ile), height 32 cm (2%ile); height 82.5 cm (34%ile), OFC 46 cm (12%ile); developmental delay, autism spectrum disorder; hypotonia; lambdoid synostosis, metopic ridge; corpus callosum dysgenesis; ptosis; down slanting palpebral fissures; no arched eyebrows; epicanthal folds; short upturned nose with bulbous tip; no marked cupid bow/wide philtrum; transposition great arteries; silent aspirations on swallow exam" "" "" "" "" "" "" "" "" "WSKA" "" "" "0000078545" "00198" "00100323" "01894" "Isolated (sporadic)" "09y" "see paper; ..., birth weight 3.88 kg (75%ile); height 133.5 cm (25%ile), OFC 51.5 cm (10%ile); developmental delay, autism spectrum disorder; hypotonia; facial asymmetry; no corpus callosum dysgenesis; ptosis; down slanting palpebral fissures; no arched eyebrows; no epicanthal folds; short upturned nose with bulbous tip; no marked cupid bow/wide philtrum; umbilical hernia repair" "" "" "" "" "" "" "" "" "WSKA" "" "" "0000337157" "06833" "00447968" "04644" "Unknown" "0" "Agenesis of corpus callosum with Interhemispheric cyst" "" "" "" "" "" "" "" "" "" "" "" "0000337158" "06833" "00447969" "04644" "Isolated (sporadic)" "05y07m" "developmental delay, Autistic behavior, EEG abnormality" "" "05y08m" "" "" "" "" "" "" "Weiss-Kruszka syndrome" "Asperger\'s syndrome" "" "0000337163" "00198" "00447973" "00006" "Familial, autosomal dominant" "04y" "see paper; ..., 6m-height 66 cm (50%ile), OFC 43 cm (50%ile); no developmental delay, no autism spectrum disorder; no hypotonia; metopic ridge; no corpus callosum dysgenesis; ptosis; down slanting palpebral fissures; no arched eyebrows; epicanthal folds; short upturned nose with bulbous tip; marked cupid bow/wide philtrum" "" "" "" "" "" "" "" "" "WSKA" "" "" "0000337164" "00198" "00447974" "00006" "Familial, autosomal dominant" "34y" "see paper; ..., height 168 cm (10%ile), OFC 57 cm (75%ile); no developmental delay, no autism spectrum disorder; no hypotonia; metopic ridge; no corpus callosum dysgenesis; ptosis; no down slanting palpebral fissures; no arched eyebrows; no epicanthal folds; no short upturned nose, no bulbous tip; no marked cupid bow/wide philtrum" "" "" "" "" "" "" "" "" "WSKA" "" "" "0000337165" "00198" "00447975" "00006" "Isolated (sporadic)" "05y" "see paper; ..., birth weight 3.5 kg (25%ile), height 33 cm (25%ile); height 118 cm (97%ile), OFC 49 cm (10%ile); no developmental delay, no autism spectrum disorder; hypotonia; normal head shape; corpus callosum dysgenesis; ptosis; down slanting palpebral fissures; arched eyebrows; epicanthal folds; short upturned nose with bulbous tip; marked cupid bow/wide philtrum" "" "" "" "" "" "" "" "" "WSKA" "" "" "0000337166" "00198" "00447976" "00006" "Isolated (sporadic)" "12y" "see paper; ..., birth weight 2.9 kg (10%ile for 41 weeks), height 33 cm (third%ile); 17m-OFC 41.2 cm (<3%ile); developmental delay, autism spectrum disorder; no hypotonia; normal head shape; no ptosis; no down slanting palpebral fissures; no arched eyebrows; no epicanthal folds; no short upturned nose, no bulbous tip; marked cupid bow/wide philtrum; ventricular septal defect; bilateral urethral reflux; hyperopia; increased appetite; high pain threshold" "" "" "" "" "" "" "" "" "WSKA" "" "" "0000337167" "05611" "00447978" "00006" "Isolated (sporadic)" "16m" "see paper; ..., delayed motor development, speech delay; no autism spectrum disorder; ptosis; no down slanting palpebral fissures; arched eyebrows; no short upturned nose with bulbous tip; exaggerated cupid bow/wide philtrum; feeding issues; epicanthal folds; low set ears; no craniosynostosis, no metopic ridging; hypotonia; hypertelorism; normal MRI; no congenital heart disease; fifth finger clinodactyly" "" "" "" "" "" "" "" "" "WSKA" "neurodevelopmental delay" "" "0000337168" "05611" "00447979" "00006" "Isolated (sporadic)" "10y" "see paper; ..., delayed motor development, speech delay; autism spectrum disorder; ptosis; down slanting palpebral fissures; arched eyebrows; short upturned nose with bulbous tip; exaggerated cupid bow/wide philtrum; feeding issues; epicanthal folds; normal ears; no craniosynostosis, no metopic ridging; no hypotonia; hypertelorism; normal MRI; no congenital heart disease; no limb anomalies" "" "" "" "" "" "" "" "" "WSKA" "neurodevelopmental delay" "" "0000337169" "05611" "00447980" "00006" "Isolated (sporadic)" "6y" "see paper; ..., delayed motor development, speech delay; no autism spectrum disorder; no ptosis; no down slanting palpebral fissures; no arched eyebrows; short upturned nose with bulbous tip; no exaggerated cupid bow/wide philtrum; feeding issues; no epicanthal folds; inner ear malformation; no craniosynostosis, no metopic ridging; hypotonia; hypertelorism; normal MRI; bicuspid aoritc valve, ventricular septal defect; no limb anomalies" "" "" "" "" "" "" "" "" "WSKA" "neurodevelopmental delay" "" "0000337170" "05611" "00447981" "00006" "Isolated (sporadic)" "2y7m" "see paper; ..., speech delay; no autism spectrum disorder; ptosis; no down slanting palpebral fissures; no arched eyebrows; no short upturned nose with bulbous tip; exaggerated cupid bow/wide philtrum; feeding issues; epicanthal folds; small ears, lowset ears; craniosynostosis/metopic ridging; no hypotonia; no hypertelorism; no congenital heart disease; no limb anomalies" "" "" "" "" "" "" "" "" "WSKA" "neurodevelopmental delay" "" "0000337171" "05611" "00447982" "00006" "Familial, autosomal dominant" "14y" "see paper; ..., individualized education program, special education; no autism spectrum disorder; ptosis; no down slanting palpebral fissures; arched eyebrows; no short upturned nose with bulbous tip; no exaggerated cupid bow/wide philtrum; no feeding issues; epicanthal folds; hearing loss; craniosynostosis/metopic ridging; no hypotonia; no hypertelorism; no congenital heart disease; no limb anomalies" "" "" "" "" "" "" "" "" "WSKA" "neurodevelopmental delay" "" "0000337172" "05611" "00447983" "00006" "Isolated (sporadic)" "7m" "see paper; ..., early intervention for developmental delay; no autism spectrum disorder; ptosis; down slanting palpebral fissures; arched eyebrows; short upturned nose with bulbous tip; exaggerated cupid bow/wide philtrum; feeding issues; epicanthal folds; horizontal crus helix; no craniosynostosis, no metopic ridging; hypotonia; hypertelorism; normal MRI; ventricular septal defect; prominent creases hands/feet" "" "" "" "" "" "" "" "" "WSKA" "neurodevelopmental delay" "" "0000337173" "05611" "00447984" "00006" "Isolated (sporadic)" "13y" "see paper; ..., cognitive impairment; autism spectrum disorder; no ptosis; no down slanting palpebral fissures; arched eyebrows; no short upturned nose with bulbous tip; exaggerated cupid bow/wide philtrum; no feeding issues; no epicanthal folds; prominent ears, ear pits; hearing loss; craniosynostosis/metopic ridging; no hypotonia; no hypertelorism; no congenital heart disease; no limb anomalies" "" "" "" "" "" "" "" "" "WSKA" "neurodevelopmental delay" "" "0000337174" "05611" "00447985" "00006" "Isolated (sporadic)" "2y" "see paper; ..., speech delay; no autism spectrum disorder; ptosis; down slanting palpebral fissures; no arched eyebrows; no short upturned nose with bulbous tip; no exaggerated cupid bow/wide philtrum; no feeding issues; no epicanthal folds; normal ears; no craniosynostosis, no metopic ridging; no hypotonia; no hypertelorism; MRI brain agenesis corpus callosum; no congenital heart disease; no limb anomalies" "" "" "" "" "" "" "" "" "WSKA" "neurodevelopmental delay" "" "0000337175" "05611" "00447986" "00006" "Isolated (sporadic)" "15y" "see paper; ..., global developmental delay; no autism spectrum disorder; ptosis; down slanting palpebral fissures; arched eyebrows; no short upturned nose with bulbous tip; exaggerated cupid bow/wide philtrum; feeding issues; no epicanthal folds; lowset ears; no craniosynostosis, no metopic ridging; hypotonia; no hypertelorism; no congenital heart disease; no limb anomalies" "" "" "" "" "" "" "" "" "WSKA" "neurodevelopmental delay" "" "0000337176" "05611" "00447987" "00006" "Unknown" "8y" "see paper; ..., speech delay, motor apraxia, individualized education program; no autism spectrum disorder; ptosis; no down slanting palpebral fissures; no arched eyebrows; no short upturned nose with bulbous tip; no exaggerated cupid bow/wide philtrum; feeding issues; mildly cupped ears; no craniosynostosis, no metopic ridging; no hypotonia; no hypertelorism; normal MRI; no congenital heart disease; no limb anomalies" "" "" "" "" "" "" "" "" "WSKA" "neurodevelopmental delay" "" "0000337177" "05611" "00447988" "00006" "Isolated (sporadic)" "2y5m" "see paper; ..., no developmental delay; no autism spectrum disorder; ptosis; no down slanting palpebral fissures; no arched eyebrows; no short upturned nose with bulbous tip; no exaggerated cupid bow/wide philtrum; feeding issues; no craniosynostosis, no metopic ridging; hypotonia; no hypertelorism; no congenital heart disease; no limb anomalies" "" "" "" "" "" "" "" "" "WSKA" "neurodevelopmental delay" "" "0000337178" "05611" "00447989" "00006" "Isolated (sporadic)" "9m" "see paper; ..., delayed motor development; no autism spectrum disorder; ptosis; down slanting palpebral fissures; arched eyebrows; short upturned nose with bulbous tip; exaggerated cupid bow/wide philtrum; no feeding issues; epicanthal folds; normal ears; no craniosynostosis, no metopic ridging; hypotonia; hypertelorism; normal MRI; no congenital heart disease; no limb anomalies" "" "" "" "" "" "" "" "" "WSKA" "neurodevelopmental delay" "" "0000337179" "05611" "00447990" "00006" "Isolated (sporadic)" "8y7m" "see paper; ..., no developmental delay; no autism spectrum disorder; ptosis; down slanting palpebral fissures; no arched eyebrows; short upturned nose with bulbous tip; exaggerated cupid bow/wide philtrum; no feeding issues; no epicanthal folds; normal ears; no craniosynostosis, no metopic ridging; no hypotonia; hypertelorism; no congenital heart disease; 5th finger clinodactyly" "" "" "" "" "" "" "" "" "WSKA" "neurodevelopmental delay" "" "0000337180" "05611" "00447991" "00006" "Unknown" "8y" "see paper; ..., cognitive impairment; no autism spectrum disorder; no ptosis; no down slanting palpebral fissures; arched eyebrows; no short upturned nose with bulbous tip; no exaggerated cupid bow/wide philtrum; feeding issues; no epicanthal folds; normal ears; no craniosynostosis, no metopic ridging; hypotonia; no hypertelorism; normal MRI; no congenital heart disease; no limb anomalies" "" "" "" "" "" "" "" "" "WSKA" "neurodevelopmental delay" "" "0000337181" "00198" "00447992" "00006" "Isolated (sporadic)" "" "see paper; ..., pregnancy complicated by gestational diabetes; complete agenesis corpus callosum, bilateral periventricular nodular heterotopia, bilateral chorioretinal, iris colobomas; frontal bossing, left ptosis, dysplastic left ear, hemangiomas right forehead, left knee and shoulder and right vulva, bilateral leukocoria, hearing loss, ventricular septal defects, vesicoureteral reflux, hyperreflexia all four extremities" "" "" "" "" "" "" "" "" "" "" "" "0000337183" "05611" "00447994" "00006" "Isolated (sporadic)" "24y" "see paper; ..., 2y6m-developmental delay, trigonocephaly, shallow orbits, ptosis; 24y-prominent metopic ridge, underdeveloped supraorbital ridges, arched eyebrows, bilateral ptosis, inner epicanthal folds, large mouth, thin upper lip, broad/long philtrum, retrognathia, low-set ears, broad neck, low posterior hairline" "" "" "" "" "" "" "" "" "" "developmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 26 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000096431" "00096028" "1" "01894" "01894" "2017-01-27 21:57:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000096432" "00096029" "1" "01894" "01894" "2017-01-27 22:16:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000096433" "00096030" "1" "01894" "01894" "2017-01-27 22:39:33" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000100727" "00100323" "1" "01894" "01894" "2017-02-10 19:43:41" "" "" "SEQ-NG" "DNA" "" "" "0000449540" "00447968" "1" "04644" "04644" "2024-02-06 03:44:43" "" "" "SEQ-NG" "DNA" "abortion tissue" "" "0000449541" "00447969" "1" "04644" "04644" "2024-02-06 04:23:04" "" "" "SEQ-NG" "DNA" "Peripheral Blood" "" "0000449545" "00447973" "1" "00006" "00006" "2024-02-07 20:01:44" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000449546" "00447974" "1" "00006" "00006" "2024-02-07 20:05:49" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000449547" "00447975" "1" "00006" "00006" "2024-02-07 20:34:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000449548" "00447976" "1" "00006" "00006" "2024-02-07 20:41:16" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000449551" "00447978" "1" "00006" "00006" "2024-02-08 09:26:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449552" "00447979" "1" "00006" "00006" "2024-02-08 09:26:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449553" "00447980" "1" "00006" "00006" "2024-02-08 09:26:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449554" "00447981" "1" "00006" "00006" "2024-02-08 09:26:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449555" "00447982" "1" "00006" "00006" "2024-02-08 09:26:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449556" "00447983" "1" "00006" "00006" "2024-02-08 09:26:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449557" "00447984" "1" "00006" "00006" "2024-02-08 09:26:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449558" "00447985" "1" "00006" "00006" "2024-02-08 09:26:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449559" "00447986" "1" "00006" "00006" "2024-02-08 09:26:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449560" "00447987" "1" "00006" "00006" "2024-02-08 09:26:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449561" "00447988" "1" "00006" "00006" "2024-02-08 09:26:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449562" "00447989" "1" "00006" "00006" "2024-02-08 09:26:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449563" "00447990" "1" "00006" "00006" "2024-02-08 09:26:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449564" "00447991" "1" "00006" "00006" "2024-02-08 09:26:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449565" "00447992" "1" "00006" "00006" "2024-02-08 11:01:11" "" "" "microscope;PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000449567" "00447994" "1" "00006" "00006" "2024-02-08 16:49:36" "" "" "microscope;PCR;SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000096431" "ZNF462" "0000096432" "ZNF462" "0000096433" "ZNF462" "0000100727" "ZNF462" "0000449540" "ZNF462" "0000449541" "ZNF462" ## 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 = 93 "{{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}}" "0000158425" "11" "70" "9" "109689980" "109689980" "subst" "0" "01894" "ZNF462_000001" "g.109689980C>T" "" "" "" "g.64603C>T" "" "Germline" "yes" "" "0" "" "" "g.106927699C>T" "" "likely pathogenic" "" "0000158426" "0" "70" "9" "109689172" "109689173" "delins" "0" "01894" "ZNF462_000002" "g.109689172_109689173delinsA" "" "{PMID:Weiss 2017:28513610}, {DOI:Weiss 2017:10.1038/ejhg.2017.86}" "" "2979_2980delTGinsA / g.63795_63796delinsA" "" "De novo" "" "" "0" "" "" "g.106926891_106926892delinsA" "" "likely pathogenic" "" "0000158427" "0" "70" "9" "109690456" "109690456" "del" "0" "01894" "ZNF462_000003" "g.109690456del" "" "{PMID:Weiss 2017:28513610}, {DOI:Weiss 2017:10.1038/ejhg.2017.86}" "" "g.65079_65079delA" "" "De novo" "" "" "0" "" "" "g.106928175del" "" "likely pathogenic" "" "0000163094" "0" "77" "9" "109691338" "109691338" "del" "0" "01894" "ZNF462_000004" "g.109691338del" "" "{PMID:Weiss 2017:28513610}, {DOI:Weiss 2017:10.1038/ejhg.2017.86}" "" "5145delC" "" "De novo" "" "" "0" "" "" "g.106929057del" "" "likely pathogenic" "" "0000535986" "0" "30" "9" "109686855" "109686855" "subst" "6.09563E-5" "01804" "ZNF462_000005" "g.109686855C>T" "" "" "" "ZNF462(NM_021224.4):c.662C>T (p.(Ala221Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106924574C>T" "" "likely benign" "" "0000535987" "0" "50" "9" "109687605" "109687605" "subst" "0" "01804" "ZNF462_000006" "g.109687605A>C" "" "" "" "ZNF462(NM_021224.4):c.1412A>C (p.(Lys471Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106925324A>C" "" "VUS" "" "0000535989" "0" "30" "9" "109689696" "109689696" "subst" "8.15448E-6" "01804" "ZNF462_000008" "g.109689696G>C" "" "" "" "ZNF462(NM_021224.4):c.3503G>C (p.(Arg1168Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106927415G>C" "" "likely benign" "" "0000535990" "0" "30" "9" "109689704" "109689704" "subst" "0" "01804" "ZNF462_000009" "g.109689704G>C" "" "" "" "ZNF462(NM_021224.4):c.3511G>C (p.(Ala1171Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106927423G>C" "" "likely benign" "" "0000535991" "0" "30" "9" "109689711" "109689711" "subst" "0" "01804" "ZNF462_000010" "g.109689711T>A" "" "" "" "ZNF462(NM_021224.4):c.3518T>A (p.(Ile1173Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106927430T>A" "" "likely benign" "" "0000535992" "0" "50" "9" "109690667" "109690667" "subst" "0" "01804" "ZNF462_000011" "g.109690667A>C" "" "" "" "ZNF462(NM_021224.4):c.4474A>C (p.(Lys1492Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106928386A>C" "" "VUS" "" "0000535993" "0" "50" "9" "109691348" "109691348" "subst" "0" "02327" "ZNF462_000012" "g.109691348C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106929067C>T" "" "VUS" "" "0000535994" "0" "30" "9" "109765695" "109765695" "subst" "7.34436E-5" "01804" "ZNF462_000013" "g.109765695G>T" "" "" "" "ZNF462(NM_021224.4):c.7177G>T (p.(Ala2393Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107003414G>T" "" "likely benign" "" "0000611807" "0" "50" "9" "109736516" "109736516" "dup" "0" "02327" "ZNF462_000016" "g.109736516dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106974235dup" "" "VUS" "" "0000611808" "0" "70" "9" "109736551" "109736551" "subst" "0" "02327" "ZNF462_000017" "g.109736551C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106974270C>T" "" "likely pathogenic" "" "0000622147" "0" "70" "9" "109687274" "109687274" "subst" "0" "02325" "ZNF462_000014" "g.109687274G>T" "" "" "" "ZNF462(NM_021224.6):c.1081G>T (p.E361*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106924993G>T" "" "likely pathogenic" "" "0000622148" "0" "50" "9" "109691447" "109691447" "subst" "0.000430586" "02325" "ZNF462_000015" "g.109691447G>A" "" "" "" "ZNF462(NM_021224.6):c.5254G>A (p.D1752N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106929166G>A" "" "VUS" "" "0000656193" "0" "50" "9" "109686473" "109686473" "subst" "0" "02325" "ZNF462_000018" "g.109686473G>T" "" "" "" "ZNF462(NM_021224.6):c.280G>T (p.G94C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106924192G>T" "" "VUS" "" "0000656195" "0" "50" "9" "109690382" "109690382" "subst" "0.000194918" "02325" "ZNF462_000020" "g.109690382A>C" "" "" "" "ZNF462(NM_021224.6):c.4189A>C (p.(Asn1397His), p.N1397H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106928101A>C" "" "VUS" "" "0000656196" "0" "50" "9" "109691621" "109691621" "subst" "0.00018727" "02325" "ZNF462_000021" "g.109691621G>A" "" "" "" "ZNF462(NM_021224.6):c.5428G>A (p.V1810I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106929340G>A" "" "VUS" "" "0000678501" "0" "30" "9" "109688883" "109688883" "subst" "3.24886E-5" "01804" "ZNF462_000022" "g.109688883A>G" "" "" "" "ZNF462(NM_021224.4):c.2690A>G (p.(Asn897Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678502" "0" "50" "9" "109690286" "109690286" "subst" "0.000373586" "02325" "ZNF462_000023" "g.109690286G>A" "" "" "" "ZNF462(NM_021224.6):c.4093G>A (p.E1365K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690364" "0" "30" "9" "109689700" "109689700" "subst" "0" "01943" "ZNF462_000024" "g.109689700A>C" "" "" "" "ZNF462(NM_021224.5):c.3507A>C (p.P1169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722202" "0" "70" "9" "109688783" "109688783" "subst" "0" "02329" "ZNF462_000019" "g.109688783C>T" "" "" "" "ZNF462(NM_021224.6):c.2590C>T (p.R864*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000722203" "0" "50" "9" "109771873" "109771873" "subst" "5.28847E-5" "02325" "ZNF462_000025" "g.109771873C>T" "" "" "" "ZNF462(NM_021224.6):c.7237C>T (p.R2413C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803822" "0" "50" "9" "109690190" "109690190" "subst" "8.12242E-6" "02329" "ZNF462_000026" "g.109690190C>T" "" "" "" "ZNF462(NM_021224.6):c.3997C>T (p.R1333W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803823" "0" "50" "9" "109691019" "109691019" "subst" "0.000337141" "02325" "ZNF462_000027" "g.109691019C>T" "" "" "" "ZNF462(NM_021224.6):c.4826C>T (p.S1609F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852064" "0" "50" "9" "109688924" "109688924" "subst" "0" "02327" "ZNF462_000029" "g.109688924G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852065" "0" "50" "9" "109701264" "109701264" "subst" "0" "01943" "ZNF462_000030" "g.109701264C>G" "" "" "" "ZNF462(NM_021224.5):c.6303C>G (p.H2101Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861349" "0" "50" "9" "109688716" "109688716" "subst" "4.06276E-5" "02325" "ZNF462_000028" "g.109688716G>C" "" "" "" "ZNF462(NM_021224.6):c.2523G>C (p.R841S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888568" "0" "90" "9" "109690985" "109690985" "subst" "0" "02329" "ZNF462_000031" "g.109690985A>T" "" "" "" "ZNF462(NM_021224.6):c.4792A>T (p.K1598*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888569" "0" "30" "9" "109691477" "109691477" "subst" "0.00011374" "02325" "ZNF462_000032" "g.109691477C>T" "" "" "" "ZNF462(NM_021224.6):c.5284C>T (p.R1762W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913052" "0" "50" "9" "109690854" "109690854" "subst" "1.22091E-5" "02325" "ZNF462_000033" "g.109690854A>T" "" "" "" "ZNF462(NM_021224.6):c.4661A>T (p.Q1554L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929503" "0" "90" "9" "109691408" "109691408" "subst" "0" "02327" "ZNF462_000034" "g.109691408A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929504" "0" "50" "9" "109691591" "109691591" "subst" "0" "02325" "ZNF462_000035" "g.109691591G>A" "" "" "" "ZNF462(NM_021224.6):c.5398G>A (p.A1800T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000959766" "21" "70" "9" "109691084" "109691084" "subst" "0" "04644" "ZNF462_000036" "g.109691084C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.106928803C>T" "" "likely pathogenic" "ACMG" "0000959767" "0" "70" "9" "109736416" "109736416" "subst" "0" "04644" "ZNF462_000037" "g.109736416A>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.106974135A>C" "" "pathogenic (dominant)" "ACMG" "0000959797" "11" "90" "9" "109689980" "109689980" "subst" "0" "00006" "ZNF462_000001" "g.109689980C>T" "" "{PMID:Weiss 2017:28513610}, {DOI:Weiss 2017:10.1038/ejhg.2017.86}" "" "" "" "Germline" "" "" "0" "" "" "g.106927699C>T" "" "pathogenic (dominant)" "" "0000959798" "21" "90" "9" "109689980" "109689980" "subst" "0" "00006" "ZNF462_000001" "g.109689980C>T" "" "{PMID:Weiss 2017:28513610}, {DOI:Weiss 2017:10.1038/ejhg.2017.86}" "" "" "" "Germline" "yes" "" "0" "" "" "g.106927699C>T" "" "pathogenic (dominant)" "" "0000959799" "0" "90" "9" "108940763" "110561397" "del" "0" "00006" "ZNF462_000038" "g.(?_108940763)_(110561397_?)del" "" "{PMID:Weiss 2017:28513610}, {DOI:Weiss 2017:10.1038/ejhg.2017.86}" "" "hg19 g.(108940763-110561397)del" "" "De novo" "" "" "0" "" "" "g.(?_106178482)_(107799116_?)del" "" "pathogenic (dominant)" "" "0000959800" "0" "90" "9" "108464368" "110362345" "del" "0" "00006" "ZNF462_000038" "g.(?_108464368)_(110362345_?)del" "" "{PMID:Weiss 2017:28513610}, {DOI:Weiss 2017:10.1038/ejhg.2017.86" "" "hg19 g(108464368-110362345)del" "" "De novo" "" "" "0" "" "" "g.(?_105702087)_(107600064_?)del" "" "pathogenic (dominant)" "" "0000959801" "21" "90" "9" "109688783" "109688783" "subst" "0" "00006" "ZNF462_000019" "g.109688783C>T" "" "{PMID:Kruszka 2019:31361404}" "" "" "mother mosaic (35/175 reads)" "Germline" "" "" "0" "" "" "g.106926502C>T" "" "pathogenic (dominant)" "" "0000959802" "0" "90" "9" "109688735" "109688735" "del" "0" "00006" "ZNF462_000046" "g.109688735del" "" "{PMID:Kruszka 2019:31361404}" "" "" "" "De novo" "" "" "0" "" "" "g.106926454del" "" "pathogenic (dominant)" "" "0000959803" "0" "90" "9" "109687024" "109687027" "del" "0" "00006" "ZNF462_000042" "g.109687024_109687027del" "" "{PMID:Kruszka 2019:31361404}" "" "" "" "De novo" "" "" "0" "" "" "g.106924743_106924746del" "" "pathogenic (dominant)" "" "0000959804" "0" "90" "9" "109697881" "109697882" "del" "0" "00006" "ZNF462_000049" "g.109697881_109697882del" "" "{PMID:Kruszka 2019:31361404}" "" "" "" "De novo" "" "" "0" "" "" "g.106935600_106935601del" "" "pathogenic (dominant)" "" "0000959805" "11" "90" "9" "109686956" "109686956" "subst" "0" "00006" "ZNF462_000041" "g.109686956C>T" "" "{PMID:Kruszka 2019:31361404}" "" "" "" "Germline" "" "" "0" "" "" "g.106924675C>T" "" "pathogenic (dominant)" "" "0000959806" "0" "90" "9" "109765573" "109765573" "subst" "0" "00006" "ZNF462_000051" "g.109765573A>G" "" "{PMID:Kruszka 2019:31361404}" "" "" "" "De novo" "" "" "0" "" "" "g.107003292A>G" "" "pathogenic (dominant)" "" "0000959807" "0" "90" "9" "109736516" "109736516" "dup" "0" "00006" "ZNF462_000016" "g.109736516dup" "" "{PMID:Kruszka 2019:31361404}" "" "" "" "De novo" "" "" "0" "" "" "g.106974235dup" "" "pathogenic (dominant)" "" "0000959808" "0" "90" "9" "109687075" "109687075" "dup" "0" "00006" "ZNF462_000043" "g.109687075dup" "" "{PMID:Kruszka 2019:31361404}" "" "" "" "De novo" "" "" "0" "" "" "g.106924794dup" "" "pathogenic (dominant)" "" "0000959809" "0" "90" "9" "109690358" "109690358" "subst" "0" "00006" "ZNF462_000048" "g.109690358C>T" "" "{PMID:Kruszka 2019:31361404}" "" "" "" "De novo" "" "" "0" "" "" "g.106928077C>T" "" "pathogenic (dominant)" "" "0000959810" "0" "90" "9" "109687427" "109687428" "ins" "0" "00006" "ZNF462_000044" "g.109687427_109687428insAA" "" "{PMID:Kruszka 2019:31361404}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.106925146_106925147insAA" "" "pathogenic (dominant)" "" "0000959811" "0" "90" "9" "109697881" "109697882" "del" "0" "00006" "ZNF462_000049" "g.109697881_109697882del" "" "{PMID:Kruszka 2019:31361404}" "" "" "" "De novo" "" "" "0" "" "" "g.106935600_106935601del" "" "pathogenic (dominant)" "" "0000959812" "0" "90" "9" "109688242" "109688242" "dup" "0" "00006" "ZNF462_000045" "g.109688242dup" "" "{PMID:Kruszka 2019:31361404}" "" "" "" "De novo" "" "" "0" "" "" "g.106925961dup" "" "pathogenic (dominant)" "" "0000959813" "0" "90" "9" "109734489" "109734489" "del" "0" "00006" "ZNF462_000050" "g.109734489del" "" "{PMID:Kruszka 2019:31361404}" "" "" "" "De novo" "" "" "0" "" "" "g.106972208del" "" "pathogenic (dominant)" "" "0000959814" "0" "90" "9" "109688888" "109688888" "subst" "0" "00006" "ZNF462_000047" "g.109688888G>T" "" "{PMID:Kruszka 2019:31361404}" "" "" "mother negative, father not available" "Germline/De novo (untested)" "" "" "0" "" "" "g.106926607G>T" "" "pathogenic (dominant)" "" "0000959817" "0" "90" "9" "0" "0" "" "" "00006" "ZNF462_000039" "g.(109701389_109734285)_qterdelins[NC_000002.11:g.pter_(25994410_26022253)inv]" "" "{PMID:Ramocki 2003:12825074}" "" "" "" "De novo" "" "" "0" "" "t(2;9)(p24;q32)" "g.(106939108_106972004)_qterdelins[NC_000002.12:g.pter_(25771541_25799384)jnv]" "" "pathogenic (dominant)" "" "0000959827" "0" "90" "9" "0" "0" "" "" "00006" "ZNF462_000040" "g.109640008_qterdelins[NC_000013.10:g.64380519_64409652;74561584_qter]" "" "{PMID:Cosemans 2018:29427787}" "" "" "" "De novo" "" "" "0" "" "46,XY,t(9;13)(q31.2;q22.1)" "g.106877728_qterdelins[NC_000013.11:g.63806386_63835519;73987447_qter]" "" "pathogenic (dominant)" "" "0000965126" "0" "70" "9" "109687438" "109687448" "dup" "0" "02325" "ZNF462_000052" "g.109687438_109687448dup" "" "" "" "ZNF462(NM_021224.6):c.1245_1255dupGCTGATGGGCT (p.S419Cfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000965127" "0" "90" "9" "109689271" "109689271" "dup" "0" "02329" "ZNF462_000053" "g.109689271dup" "" "" "" "ZNF462(NM_021224.6):c.3078dupT (p.V1027Cfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000978343" "0" "30" "9" "109688970" "109688970" "subst" "2.03051E-5" "01804" "ZNF462_000054" "g.109688970G>A" "" "" "" "ZNF462(NM_021224.6):c.2777G>A (p.(Arg926Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978344" "0" "30" "9" "109690382" "109690382" "subst" "0.000194918" "01804" "ZNF462_000020" "g.109690382A>C" "" "" "" "ZNF462(NM_021224.6):c.4189A>C (p.(Asn1397His), p.N1397H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978345" "0" "30" "9" "109690998" "109690998" "subst" "7.7168E-5" "01804" "ZNF462_000055" "g.109690998A>G" "" "" "" "ZNF462(NM_021224.6):c.4805A>G (p.(Gln1602Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978346" "0" "50" "9" "109691090" "109691090" "subst" "4.06227E-6" "01804" "ZNF462_000056" "g.109691090T>C" "" "" "" "ZNF462(NM_021224.4):c.4897T>C (p.(Ser1633Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978347" "0" "50" "9" "109773575" "109773575" "subst" "0" "01804" "ZNF462_000057" "g.109773575G>A" "" "" "" "ZNF462(NM_021224.6):c.*264G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997427" "0" "30" "9" "109685701" "109685701" "subst" "0" "01804" "ZNF462_000058" "g.109685701G>A" "" "" "" "ZNF462(NM_021224.4):c.37G>A (p.(Ala13Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997428" "0" "30" "9" "109686993" "109686993" "subst" "1.21828E-5" "01804" "ZNF462_000059" "g.109686993G>A" "" "" "" "ZNF462(NM_021224.4):c.800G>A (p.(Arg267His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997429" "0" "50" "9" "109687500" "109687500" "subst" "0" "02325" "ZNF462_000060" "g.109687500T>C" "" "" "" "ZNF462(NM_021224.6):c.1307T>C (p.M436T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997430" "0" "50" "9" "109687853" "109687855" "dup" "0" "01804" "ZNF462_000061" "g.109687853_109687855dup" "" "" "" "ZNF462(NM_021224.4):c.1660_1662dupCCA (p.(Pro554dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997431" "0" "50" "9" "109687894" "109687908" "del" "0" "01804" "ZNF462_000062" "g.109687894_109687908del" "" "" "" "ZNF462(NM_021224.4):c.1701_1715delGCTGCAGCCACCACA (p.(Gln567_Pro571del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997432" "0" "30" "9" "109688538" "109688538" "subst" "0" "01804" "ZNF462_000063" "g.109688538A>T" "" "" "" "ZNF462(NM_021224.4):c.2345A>T (p.(Asn782Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997433" "0" "30" "9" "109688637" "109688637" "subst" "0" "01804" "ZNF462_000064" "g.109688637C>A" "" "" "" "ZNF462(NM_021224.4):c.2444C>A (p.(Thr815Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997434" "0" "30" "9" "109688681" "109688681" "subst" "4.06174E-6" "01804" "ZNF462_000065" "g.109688681A>T" "" "" "" "ZNF462(NM_021224.4):c.2488A>T (p.(Asn830Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997435" "0" "30" "9" "109689485" "109689486" "ins" "0" "01804" "ZNF462_000066" "g.109689485_109689486insGCC" "" "" "" "ZNF462(NM_021224.4):c.3292_3293insGCC (p.(Ser1098delinsCysPro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997436" "0" "50" "9" "109689674" "109689674" "subst" "8.13127E-6" "01804" "ZNF462_000067" "g.109689674G>A" "" "" "" "ZNF462(NM_021224.4):c.3481G>A (p.(Glu1161Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997437" "0" "70" "9" "109690373" "109690373" "del" "0" "01804" "ZNF462_000068" "g.109690373del" "" "" "" "ZNF462(NM_021224.4):c.4180delT (p.(Trp1394fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000997438" "0" "50" "9" "109690905" "109690905" "subst" "0" "01804" "ZNF462_000069" "g.109690905A>G" "" "" "" "ZNF462(NM_021224.4):c.4712A>G (p.(Lys1571Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997439" "0" "30" "9" "109690941" "109690941" "subst" "2.43851E-5" "01804" "ZNF462_000070" "g.109690941C>T" "" "" "" "ZNF462(NM_021224.4):c.4748C>T (p.(Pro1583Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997440" "0" "50" "9" "109690952" "109690952" "subst" "0" "01804" "ZNF462_000071" "g.109690952G>T" "" "" "" "ZNF462(NM_021224.4):c.4759G>T (p.(Gly1587Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997441" "0" "50" "9" "109691405" "109691405" "subst" "1.21869E-5" "01804" "ZNF462_000072" "g.109691405G>A" "" "" "" "ZNF462(NM_021224.4):c.5212G>A (p.(Asp1738Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997442" "0" "50" "9" "109691955" "109691955" "subst" "8.15189E-6" "01804" "ZNF462_000073" "g.109691955G>A" "" "" "" "ZNF462(NM_021224.4):c.5762G>A (p.(Arg1921His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997443" "0" "30" "9" "109692929" "109692929" "subst" "1.21835E-5" "01804" "ZNF462_000074" "g.109692929G>A" "" "" "" "ZNF462(NM_021224.4):c.5971G>A (p.(Val1991Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997444" "0" "30" "9" "109692959" "109692959" "subst" "3.65613E-5" "01804" "ZNF462_000075" "g.109692959G>C" "" "" "" "ZNF462(NM_021224.4):c.6001G>C (p.(Ala2001Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997445" "0" "50" "9" "109736420" "109736420" "subst" "0" "01804" "ZNF462_000076" "g.109736420C>T" "" "" "" "ZNF462(NM_021224.4):c.6698C>T (p.(Pro2233Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997446" "0" "50" "9" "109736473" "109736473" "subst" "0" "01804" "ZNF462_000077" "g.109736473C>T" "" "" "" "ZNF462(NM_021224.4):c.6751C>T (p.(Leu2251Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014490" "0" "90" "9" "109686932" "109686932" "dup" "0" "02327" "ZNF462_000078" "g.109686932dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001021297" "0" "30" "9" "109692050" "109692050" "subst" "0" "03779" "ZNF462_000079" "g.109692050T>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0001025571" "0" "50" "9" "109690016" "109690016" "subst" "0" "02325" "ZNF462_000080" "g.109690016C>T" "" "" "" "ZNF462(NM_021224.6):c.3823C>T (p.P1275S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030003" "0" "90" "9" "109688014" "109688014" "subst" "0" "03779" "ZNF462_000081" "g.109688014C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0001037124" "0" "50" "9" "109687938" "109687938" "subst" "4.06253E-6" "02325" "ZNF462_000082" "g.109687938C>G" "" "" "" "ZNF462(NM_021224.6):c.1745C>G (p.P582R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037125" "0" "30" "9" "109689905" "109689905" "subst" "7.71768E-5" "01804" "ZNF462_000083" "g.109689905G>A" "" "" "" "ZNF462(NM_021224.6):c.3712G>A (p.(Asp1238Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037126" "0" "30" "9" "109691106" "109691108" "dup" "0" "01804" "ZNF462_000084" "g.109691106_109691108dup" "" "" "" "ZNF462(NM_021224.6):c.4913_4915dup (p.(Glu1638dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037127" "0" "30" "9" "109691115" "109691115" "subst" "2.43801E-5" "01804" "ZNF462_000085" "g.109691115A>C" "" "" "" "ZNF462(NM_021224.6):c.4922A>C (p.(Glu1641Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053315" "0" "50" "9" "109687842" "109687842" "subst" "4.14089E-6" "01804" "ZNF462_000086" "g.109687842C>T" "" "" "" "ZNF462(NM_021224.6):c.1649C>T (p.(Pro550Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053316" "0" "50" "9" "109691849" "109691849" "subst" "2.03232E-5" "01804" "ZNF462_000087" "g.109691849C>T" "" "" "" "ZNF462(NM_021224.6):c.5656C>T (p.(Arg1886Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 ZNF462 ## Count = 93 "{{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}}" "0000158425" "00023456" "70" "3787" "0" "3787" "0" "c.3787C>T" "r.(?)" "p.(Arg1263*)" "3" "0000158426" "00023456" "70" "2979" "0" "2980" "0" "c.2979_2980delinsA" "r.(?)" "p.(Val994Trpfs*147)" "3" "0000158427" "00023456" "70" "4263" "0" "4263" "0" "c.4263del" "r.(?)" "p.(Glu1422Serfs*6)" "3" "0000163094" "00023456" "77" "5145" "0" "5145" "0" "c.5145del" "r.(?)" "p.(Tyr1716Thrfs*28)" "3" "0000535986" "00023456" "30" "662" "0" "662" "0" "c.662C>T" "r.(?)" "p.(Ala221Val)" "" "0000535987" "00023456" "50" "1412" "0" "1412" "0" "c.1412A>C" "r.(?)" "p.(Lys471Thr)" "" "0000535989" "00023456" "30" "3503" "0" "3503" "0" "c.3503G>C" "r.(?)" "p.(Arg1168Pro)" "" "0000535990" "00023456" "30" "3511" "0" "3511" "0" "c.3511G>C" "r.(?)" "p.(Ala1171Pro)" "" "0000535991" "00023456" "30" "3518" "0" "3518" "0" "c.3518T>A" "r.(?)" "p.(Ile1173Lys)" "" "0000535992" "00023456" "50" "4474" "0" "4474" "0" "c.4474A>C" "r.(?)" "p.(Lys1492Gln)" "" "0000535993" "00023456" "50" "5155" "0" "5155" "0" "c.5155C>T" "r.(?)" "p.(Arg1719Cys)" "" "0000535994" "00023456" "30" "7177" "0" "7177" "0" "c.7177G>T" "r.(?)" "p.(Ala2393Ser)" "" "0000611807" "00023456" "50" "6794" "0" "6794" "0" "c.6794dup" "r.(?)" "p.(Tyr2265Ter)" "" "0000611808" "00023456" "70" "6829" "0" "6829" "0" "c.6829C>T" "r.(?)" "p.(Arg2277Ter)" "" "0000622147" "00023456" "70" "1081" "0" "1081" "0" "c.1081G>T" "r.(?)" "p.(Glu361Ter)" "" "0000622148" "00023456" "50" "5254" "0" "5254" "0" "c.5254G>A" "r.(?)" "p.(Asp1752Asn)" "" "0000656193" "00023456" "50" "280" "0" "280" "0" "c.280G>T" "r.(?)" "p.(Gly94Cys)" "" "0000656195" "00023456" "50" "4189" "0" "4189" "0" "c.4189A>C" "r.(?)" "p.(Asn1397His)" "" "0000656196" "00023456" "50" "5428" "0" "5428" "0" "c.5428G>A" "r.(?)" "p.(Val1810Ile)" "" "0000678501" "00023456" "30" "2690" "0" "2690" "0" "c.2690A>G" "r.(?)" "p.(Asn897Ser)" "" "0000678502" "00023456" "50" "4093" "0" "4093" "0" "c.4093G>A" "r.(?)" "p.(Glu1365Lys)" "" "0000690364" "00023456" "30" "3507" "0" "3507" "0" "c.3507A>C" "r.(?)" "p.(Pro1169=)" "" "0000722202" "00023456" "70" "2590" "0" "2590" "0" "c.2590C>T" "r.(?)" "p.(Arg864Ter)" "" "0000722203" "00023456" "50" "7237" "0" "7237" "0" "c.7237C>T" "r.(?)" "p.(Arg2413Cys)" "" "0000803822" "00023456" "50" "3997" "0" "3997" "0" "c.3997C>T" "r.(?)" "p.(Arg1333Trp)" "" "0000803823" "00023456" "50" "4826" "0" "4826" "0" "c.4826C>T" "r.(?)" "p.(Ser1609Phe)" "" "0000852064" "00023456" "50" "2731" "0" "2731" "0" "c.2731G>C" "r.(?)" "p.(Glu911Gln)" "" "0000852065" "00023456" "50" "6303" "0" "6303" "0" "c.6303C>G" "r.(?)" "p.(His2101Gln)" "" "0000861349" "00023456" "50" "2523" "0" "2523" "0" "c.2523G>C" "r.(?)" "p.(Arg841Ser)" "" "0000888568" "00023456" "90" "4792" "0" "4792" "0" "c.4792A>T" "r.(?)" "p.(Lys1598*)" "" "0000888569" "00023456" "30" "5284" "0" "5284" "0" "c.5284C>T" "r.(?)" "p.(Arg1762Trp)" "" "0000913052" "00023456" "50" "4661" "0" "4661" "0" "c.4661A>T" "r.(?)" "p.(Gln1554Leu)" "" "0000929503" "00023456" "90" "5215" "0" "5215" "0" "c.5215A>T" "r.(?)" "p.(Lys1739*)" "" "0000929504" "00023456" "50" "5398" "0" "5398" "0" "c.5398G>A" "r.(?)" "p.(Ala1800Thr)" "" "0000959766" "00023456" "70" "4891" "0" "4891" "0" "c.4891C>T" "r.(?)" "p.(Gln1631*)" "3" "0000959767" "00023456" "70" "6696" "-2" "6696" "-2" "c.6696-2A>C" "r.spl" "p.?" "" "0000959797" "00023456" "90" "3787" "0" "3787" "0" "c.3787C>T" "r.(?)" "p.(Arg1263*)" "" "0000959798" "00023456" "90" "3787" "0" "3787" "0" "c.3787C>T" "r.(?)" "p.(Arg1263*)" "" "0000959799" "00023456" "90" "0" "0" "0" "0" "c.-289_*496{0}" "r.0" "p.0" "_1_13_" "0000959800" "00023456" "90" "0" "0" "0" "0" "c.-289_*496{0}" "r.0" "p.0" "_1_13_" "0000959801" "00023456" "90" "2590" "0" "2590" "0" "c.2590C>T" "r.(?)" "p.(Arg864Ter)" "" "0000959802" "00023456" "90" "2542" "0" "2542" "0" "c.2542del" "r.(?)" "p.(Cys848ValfsTer66)" "" "0000959803" "00023456" "90" "831" "0" "834" "0" "c.831_834del" "r.(?)" "p.(Arg277SerfsTer26)" "" "0000959804" "00023456" "90" "6214" "0" "6215" "0" "c.6214_6215del" "r.(?)" "p.(His2072TyrfsTer8)" "" "0000959805" "00023456" "90" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Arg255Ter)" "" "0000959806" "00023456" "90" "7057" "-2" "7057" "-2" "c.7057-2A>G" "r.spl" "p.?" "" "0000959807" "00023456" "90" "6794" "0" "6794" "0" "c.6794dup" "r.(?)" "p.(Tyr2265Ter)" "" "0000959808" "00023456" "90" "882" "0" "882" "0" "c.882dup" "r.(?)" "p.(Ser295GlnfsTer64)" "" "0000959809" "00023456" "90" "4165" "0" "4165" "0" "c.4165C>T" "r.(?)" "p.(Gln1389Ter)" "" "0000959810" "00023456" "90" "1234" "0" "1235" "0" "c.1234_1235insAA" "r.(?)" "p.(Ser412Ter)" "" "0000959811" "00023456" "90" "6214" "0" "6215" "0" "c.6214_6215del" "r.(?)" "p.(His2072TyrfsTer8)" "" "0000959812" "00023456" "90" "2049" "0" "2049" "0" "c.2049dup" "r.(?)" "p.(Pro684SerfsTer14)" "" "0000959813" "00023456" "90" "6631" "0" "6631" "0" "c.6631del" "r.(?)" "p.(Arg2211GlyfsTer59)" "" "0000959814" "00023456" "90" "2695" "0" "2695" "0" "c.2695G>T" "r.(?)" "p.(Glu899Ter)" "" "0000959817" "00023456" "90" "6428" "-1" "8017" "0" "c.(6427+1_6428-1)_*496delins[NC_000002.11:g.pter_(25994410_26022253)inv]" "r.-289_6427::NM_018263.4:r.404_*2645" "p.Met1_Asn2142::NP_060733.4:p.Val135_Ter1436" "7i" "0000959827" "00023456" "90" "-31" "14372" "8017" "0" "c.-31+14372_*496delins?" "r.?" "p.?" "1i" "0000965126" "00023456" "70" "1245" "0" "1255" "0" "c.1245_1255dup" "r.(?)" "p.(Ser419Cysfs*2)" "" "0000965127" "00023456" "90" "3078" "0" "3078" "0" "c.3078dup" "r.(?)" "p.(Val1027Cysfs*5)" "" "0000978343" "00023456" "30" "2777" "0" "2777" "0" "c.2777G>A" "r.(?)" "p.(Arg926Gln)" "" "0000978344" "00023456" "30" "4189" "0" "4189" "0" "c.4189A>C" "r.(?)" "p.(Asn1397His)" "" "0000978345" "00023456" "30" "4805" "0" "4805" "0" "c.4805A>G" "r.(?)" "p.(Gln1602Arg)" "" "0000978346" "00023456" "50" "4897" "0" "4897" "0" "c.4897T>C" "r.(?)" "p.(Ser1633Pro)" "" "0000978347" "00023456" "50" "7785" "0" "7785" "0" "c.*264G>A" "r.(=)" "p.(=)" "" "0000997427" "00023456" "30" "37" "0" "37" "0" "c.37G>A" "r.(?)" "p.(Ala13Thr)" "" "0000997428" "00023456" "30" "800" "0" "800" "0" "c.800G>A" "r.(?)" "p.(Arg267His)" "" "0000997429" "00023456" "50" "1307" "0" "1307" "0" "c.1307T>C" "r.(?)" "p.(Met436Thr)" "" "0000997430" "00023456" "50" "1660" "0" "1662" "0" "c.1660_1662dup" "r.(?)" "p.(Pro554dup)" "" "0000997431" "00023456" "50" "1701" "0" "1715" "0" "c.1701_1715del" "r.(?)" "p.(Gln567_Pro571del)" "" "0000997432" "00023456" "30" "2345" "0" "2345" "0" "c.2345A>T" "r.(?)" "p.(Asn782Ile)" "" "0000997433" "00023456" "30" "2444" "0" "2444" "0" "c.2444C>A" "r.(?)" "p.(Thr815Asn)" "" "0000997434" "00023456" "30" "2488" "0" "2488" "0" "c.2488A>T" "r.(?)" "p.(Asn830Tyr)" "" "0000997435" "00023456" "30" "3292" "0" "3293" "0" "c.3292_3293insGCC" "r.(?)" "p.(Ser1098delinsCysPro)" "" "0000997436" "00023456" "50" "3481" "0" "3481" "0" "c.3481G>A" "r.(?)" "p.(Glu1161Lys)" "" "0000997437" "00023456" "70" "4180" "0" "4180" "0" "c.4180del" "r.(?)" "p.(Trp1394Glyfs*3)" "" "0000997438" "00023456" "50" "4712" "0" "4712" "0" "c.4712A>G" "r.(?)" "p.(Lys1571Arg)" "" "0000997439" "00023456" "30" "4748" "0" "4748" "0" "c.4748C>T" "r.(?)" "p.(Pro1583Leu)" "" "0000997440" "00023456" "50" "4759" "0" "4759" "0" "c.4759G>T" "r.(?)" "p.(Gly1587Cys)" "" "0000997441" "00023456" "50" "5212" "0" "5212" "0" "c.5212G>A" "r.(?)" "p.(Asp1738Asn)" "" "0000997442" "00023456" "50" "5762" "0" "5762" "0" "c.5762G>A" "r.(?)" "p.(Arg1921His)" "" "0000997443" "00023456" "30" "5971" "0" "5971" "0" "c.5971G>A" "r.(?)" "p.(Val1991Ile)" "" "0000997444" "00023456" "30" "6001" "0" "6001" "0" "c.6001G>C" "r.(?)" "p.(Ala2001Pro)" "" "0000997445" "00023456" "50" "6698" "0" "6698" "0" "c.6698C>T" "r.(?)" "p.(Ser2233Phe)" "" "0000997446" "00023456" "50" "6751" "0" "6751" "0" "c.6751C>T" "r.(?)" "p.(Pro2251Ser)" "" "0001014490" "00023456" "90" "739" "0" "739" "0" "c.739dup" "r.(?)" "p.(Trp247Leufs*14)" "" "0001021297" "00023456" "30" "5847" "10" "5847" "10" "c.5847+10T>C" "r.(?)" "p.(?)" "" "0001025571" "00023456" "50" "3823" "0" "3823" "0" "c.3823C>T" "r.(?)" "p.(Pro1275Ser)" "" "0001030003" "00023456" "90" "1821" "0" "1821" "0" "c.1821C>A" "r.(?)" "p.(Tyr607Ter)" "" "0001037124" "00023456" "50" "1745" "0" "1745" "0" "c.1745C>G" "r.(?)" "p.(Pro582Arg)" "" "0001037125" "00023456" "30" "3712" "0" "3712" "0" "c.3712G>A" "r.(?)" "p.(Asp1238Asn)" "" "0001037126" "00023456" "30" "4913" "0" "4915" "0" "c.4913_4915dup" "r.(?)" "p.(Glu1638dup)" "" "0001037127" "00023456" "30" "4922" "0" "4922" "0" "c.4922A>C" "r.(?)" "p.(Glu1641Ala)" "" "0001053315" "00023456" "50" "1649" "0" "1649" "0" "c.1649C>T" "r.(?)" "p.(Pro550Leu)" "" "0001053316" "00023456" "50" "5656" "0" "5656" "0" "c.5656C>T" "r.(?)" "p.(Arg1886Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{variantid}}" "0000096431" "0000158425" "0000096432" "0000158426" "0000096433" "0000158427" "0000100727" "0000163094" "0000449540" "0000959766" "0000449541" "0000959767" "0000449545" "0000959797" "0000449546" "0000959798" "0000449547" "0000959799" "0000449548" "0000959800" "0000449551" "0000959801" "0000449552" "0000959802" "0000449553" "0000959803" "0000449554" "0000959804" "0000449555" "0000959805" "0000449556" "0000959806" "0000449557" "0000959807" "0000449558" "0000959808" "0000449559" "0000959809" "0000449560" "0000959810" "0000449561" "0000959811" "0000449562" "0000959812" "0000449563" "0000959813" "0000449564" "0000959814" "0000449565" "0000959817" "0000449567" "0000959827"