### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZNF292) # 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}}" "ZNF292" "zinc finger protein 292" "6" "q15" "unknown" "NC_000006.11" "UD_132465368779" "" "https://www.LOVD.nl/ZNF292" "" "1" "18410" "23036" "616213" "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/ZNF292_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-03-06 14:06:22" "00000" "2026-09-02 15:14:04" ## 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}}" "00023370" "ZNF292" "zinc finger protein 292" "001" "NM_015021.1" "" "NP_055836.1" "" "" "" "-41" "10059" "8172" "87865269" "87973406" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07155" "MRD64" "intellectual developmental disorder, autosomal dominant, type 64" "AD" "619188" "" "" "" "00006" "2025-03-06 14:07:33" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ZNF292" "00139" "ZNF292" "07155" ## Individuals ## Do not remove or alter this header ## ## Count = 59 "{{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}}" "00111417" "" "" "" "1" "" "00729" "" "" "M" "no" "" "" "0" "" "" "" "S_104" "00183050" "" "" "" "1" "" "00006" "{PMID:de Ligt 2012:23033978}" "" "F" "" "Netherlands" "" "0" "" "" "" "23033978-Trio22" "00289306" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00401296" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "035P" "00464363" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "321512" "00465222" "" "" "" "2" "" "00006" "{PMID:Desgrouas 2025:40011009}" "2-generation family, 2 affected sibs, unaffected heterozygous carrier parents" "" "yes" "France" "00y00m01d" "0" "" "" "" "FamPat1" "00465223" "" "" "00465222" "1" "" "00006" "{PMID:Desgrouas 2025:40011009}" "sib" "F" "yes" "France" "00y00m00d" "0" "" "" "" "FamPat2" "00466289" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00472017" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "356839" "00481453" "" "" "" "1" "" "05013" "" "" "M" "" "" "" "" "" "" "" "" "00481455" "" "" "" "1" "" "05013" "" "" "" "" "China" "" "" "" "" "" "" "00481456" "" "" "" "1" "" "05013" "" "" "M" "" "China" "" "" "" "" "" "" "00481528" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "Europe-N" "17-001" "00481529" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "Europe-N" "17-027" "00481530" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Germany" "" "0" "" "" "Europe-N" "19-010" "00481531" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Germany" "" "0" "" "" "Europe-N" "19-011" "00481532" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "Europe-N" "17-003" "00481533" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Netherlands" "" "0" "" "" "Europe-N" "19-013" "00481534" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "China" "" "0" "" "" "" "17-022" "00481535" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "France" "" "0" "" "" "" "18-007" "00481536" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Germany" "" "0" "" "" "Europe-N" "17-005" "00481537" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "Europe-N" "17-006" "00481538" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Jordan" "" "0" "" "" "" "19-012" "00481539" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Germany;Italy;Hungary" "" "0" "" "" "Europe-N" "17-007" "00481540" "" "" "" "2" "" "00006" "{PMID:Mirzaa 2020:31723249}" "family, affected child/mother" "F" "" "United States" "" "0" "" "" "Hispanic" "18-003" "00481541" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "Europe-N" "17-008" "00481542" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "China" "" "0" "" "" "Han" "17-023" "00481543" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "Europe-N;Hispanic" "17-009" "00481544" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe-N" "17-010" "00481545" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "Europe-N;jew-Ashkenazi" "18-004" "00481546" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "Europe-N" "17-011" "00481547" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "Europe-N" "17-012" "00481548" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "Europe-N" "17-013" "00481549" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "17-014" "00481550" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Pakistan" "" "0" "" "" "" "19-001" "00481551" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "17-021" "00481552" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "China" "" "0" "" "" "Han" "17-024" "00481553" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "Hispanic" "18-006" "00481554" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "17-015" "00481555" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "African American" "18-005" "00481556" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United States" "" "0" "" "" "" "17-002" "00481557" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "" "" "" "United States" "" "0" "" "" "" "17-028" "00481558" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "" "" "" "" "" "0" "" "" "" "17-025" "00481559" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "" "" "" "United States" "" "0" "" "" "" "17-026" "00481560" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "" "" "" "" "" "0" "" "" "" "17-004" "00481561" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "" "" "" "" "" "0" "" "" "" "18-001" "00481562" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "17-016" "00481563" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, several affected" "" "" "" "" "0" "" "" "" "17-017" "00481564" "" "" "" "2" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, 2 affected sister" "F" "" "" "" "0" "" "" "" "17-018a1/a2" "00481565" "" "" "" "3" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, 3 affected (F, 2M)" "" "" "" "" "0" "" "" "" "17-020" "00481566" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2020:31723249}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United States" "" "0" "" "" "" "17-019" "00481568" "" "" "" "1" "" "00006" "{PMID:De Rubeis 2014:25363760}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00481569" "" "" "" "1" "" "00006" "{PMID:DDDS 2017:28135719}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00481570" "" "" "" "1" "" "00006" "{PMID:DDDS 2017:28135719}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00481571" "" "" "" "1" "" "00006" "{PMID:Wang 2016:27824329}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00481572" "" "" "" "1" "" "00006" "{PMID:Guo 2018:30564305}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00481573" "" "" "" "1" "" "00006" "{PMID:DDDS 2017:28135719}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00481574" "" "" "" "1" "" "00006" "{PMID:Homsy 2015:26785492}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00484301" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 59 "{{individualid}}" "{{diseaseid}}" "00111417" "00139" "00183050" "00139" "00289306" "00198" "00401296" "00139" "00464363" "00139" "00465222" "00198" "00465223" "00198" "00466289" "05611" "00472017" "07155" "00481453" "07155" "00481455" "07155" "00481456" "07155" "00481528" "05611" "00481529" "05611" "00481530" "05611" "00481531" "05611" "00481532" "05611" "00481533" "05611" "00481534" "05611" "00481535" "05611" "00481536" "05611" "00481537" "05611" "00481538" "05611" "00481539" "05611" "00481540" "05611" "00481541" "05611" "00481542" "05611" "00481543" "05611" "00481544" "05611" "00481545" "05611" "00481546" "05611" "00481547" "05611" "00481548" "05611" "00481549" "05611" "00481550" "05611" "00481551" "05611" "00481552" "05611" "00481553" "05611" "00481554" "05611" "00481555" "05611" "00481556" "05611" "00481557" "05611" "00481558" "05611" "00481559" "05611" "00481560" "05611" "00481561" "05611" "00481562" "05611" "00481563" "05611" "00481564" "05611" "00481565" "05611" "00481566" "05611" "00481568" "00198" "00481569" "05611" "00481570" "05611" "00481571" "00198" "00481572" "00198" "00481573" "05611" "00481574" "00198" "00484301" "05162" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05162, 05611, 07155 ## Count = 58 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000087503" "00139" "00111417" "00729" "Isolated (sporadic)" "" "Developmental delay, constipation, feeding difficulties, hypothyreosis, short stature, facial dysmorphism; intellectual disability (HP:0001249); global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "0000143803" "00139" "00183050" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability (ID)" "" "0000222937" "00198" "00289306" "01807" "Unknown" "" "Intellectual disability, mild (HP:0001256); Ventricular septal defect (HP:0001629); Patent ductus arteriosus (HP:0001643); Situs inversus totalis (HP:0001696); Short stature (HP:0004322); Pulmonary artery stenosis (HP:0004415)" "" "" "" "" "" "" "" "" "" "" "0000350386" "00139" "00464363" "01164" "Unknown" "02y" "neurodevelopmental delay, motor delay, short stature" "" "" "" "" "" "" "" "MRD64" "intellectual disability" "" "0000350758" "00198" "00465222" "00006" "Familial, autosomal recessive" "00y00m01d" "see paper; ..., 22wg-fetal growth retardation, severe microcephaly (−6ZS), ponto-cerebellar hypoplasia; birth 39wg, weight lower normal range (1860 g), 30 min-deceased; hypertrichosis, facial dysmorphism (low-set ears, hypertelorism, macrostomia, retromicrognathia; multiple joint contractures, restricted limb movements, lower limbs remained permanently in hyperextension; no fetal autopsy" "" "" "" "" "" "" "" "" "fetal growth retardation, severe microcephaly, ponto-cerebellar hypoplasia" "" "0000350759" "00198" "00465223" "00006" "Familial, autosomal recessive" "00y00m00d" "see paper; ..., 13wg-antenatal ultrasound microcephaly, lower limb in hyperextension; birth 37wg, weight 1760 g, microcephaly (OFC 24.5 cm), incomplete Pierre Robin sequence (mandibular hypoplasia, glossoptosis, upper airway obstruction without cleft palate), clubfoot, camptodactylia, pulmonary hypoplasia; deceased minutes after birth, limbs malformation, severe microcephaly, dysmorphic features face (broad nasal root, flat face, deep crease philtrum, long thin upper lip, large ears), brain impairment cortical development, absence of layer organisation, deep columns of defective migrating cells" "" "" "" "" "" "" "" "" "fetal anomalies" "" "0000351657" "05611" "00466289" "03544" "Isolated (sporadic)" "" "HP:0001250, HP:0001263, HP:0004322, HP:0001508, HP:0000545, HP:0002719, HP:0001249" "" "" "" "" "" "" "" "MRD64" "complex NDD" "" "0000356826" "07155" "00472017" "01164" "Unknown" "05y" "Neurodevelopmental delay, Intellectual disability, borderline, Attention deficit hyperactivity disorder, Atypical behavior, Tip-toe gait, EEG abnormality, Hypotonia, Smooth philtrum, Short nose" "" "" "" "" "" "" "" "" "" "" "0000365726" "07155" "00481453" "05013" "Isolated (sporadic)" "09y" "" "" "" "" "" "" "" "" "MRD64" "intellectual developmental disorder" "" "0000365799" "07155" "00481455" "05013" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "MRD64" "" "" "0000365800" "07155" "00481456" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "MRD64" "intellectual developmental disorder" "" "0000365801" "05611" "00481528" "00006" "Isolated (sporadic)" "17y" "see paper; ..., mild intellectual disability; no autism spectrum disorder; attention-deficit hyperactivity disorders; speech delay; no epilepsy; no tone abnormalities; no short stature; no microcephaly; no feeding issues; no constipation; no skeletal abnormalities; no dysmorphic features; no cardiac issues" "" "" "" "" "" "" "" "MRD64" "neurodevelopmental disorder" "" "0000365802" "05611" "00481529" "00006" "Isolated (sporadic)" "7y" "see paper; ..., developmental delay; autism spectrum disorder; no behavioral issues; speech delay; no epilepsy; hypotonia; MRI brain mild plagiocephaly; no short stature; no microcephaly; no feeding issues; no constipation; no skeletal abnormalities; dysmorphic features; no cardiac issues; eye anomalies; tracheomalacia" "" "" "" "" "" "" "" "MRD64" "neurodevelopmental disorder" "" "0000365803" "05611" "00481530" "00006" "Isolated (sporadic)" "1y3m" "see paper; ..., mild developmental delay; no autism spectrum disorder; no behavioral issues; speech delay; no epilepsy; hypertonia; growth failure; no microcephaly; no feeding issues; no constipation; skeletal abnormalities; dysmorphic features; no cardiac issues; no eye anomalies" "" "" "" "" "" "" "" "MRD64" "neurodevelopmental disorder" "" "0000365804" "05611" "00481531" "00006" "Isolated (sporadic)" "3y6m" "see paper; ..., mild developmental delay; no autism spectrum disorder; no behavioral issues; speech delay; no epilepsy; no tone abnormalities; no short stature; no microcephaly; no feeding issues; no constipation; skeletal abnormalities; dysmorphic features; no cardiac issues; eye anomalies; hemihypertrophy" "" "" "" "" "" "" "" "MRD64" "neurodevelopmental disorder" "" "0000365805" "05611" "00481532" "00006" "Isolated (sporadic)" "5y" "see paper; ..., severe intellectual disability; autism spectrum disorder; attention-deficit hyperactivity disorders; speech delay; no epilepsy; hypotonia; MRI brain ild ventriculomegaly; no short stature; no microcephaly; no feeding issues; constipation; no skeletal abnormalities; dysmorphic features; no cardiac issues; eye anomalies" "" "" "" "" "" "" "" "MRD64" "neurodevelopmental disorder" "" "0000365806" "05611" "00481533" "00006" "Isolated (sporadic)" "4y" "see paper; ..., mild intellectual disability; autism spectrum disorder; attention-deficit hyperactivity disorders; speech delay; no epilepsy; no tone abnormalities; MRI brain normal; no short stature; no microcephaly; no feeding issues; no constipation; no skeletal abnormalities; no dysmorphic features; no cardiac issues; eye anomalies; 1y-inguinal hernia" "" "" "" "" "" "" "" "MRD64" "neurodevelopmental disorder" "" "0000365807" "05611" "00481534" "00006" "Isolated (sporadic)" "3y8m" "see paper; ..., mild intellectual disability; autism spectrum disorder; attention-deficit hyperactivity disorders; speech delay; no epilepsy; no microcephaly; no feeding issues; no constipation; no skeletal abnormalities; no dysmorphic features; no cardiac issues; no eye anomalies" "" "" "" "" "" "" "" "MRD64" "neurodevelopmental disorder" "" "0000365808" "05611" "00481535" "00006" "Isolated (sporadic)" "5y" "see paper; ..., moderate intellectual disability; no autism spectrum disorder; behavioral issues; severe speech delay; no epilepsy; hypotonia; MRI brain normal; growth failure; no microcephaly; no feeding issues; no constipation; no skeletal abnormalities; dysmorphic features; cardiac issues; no eye anomalies; ichthyosis; partial agenesis lacrimal duct" "" "" "" "" "" "" "" "MRD64" "neurodevelopmental disorder" "" "0000365809" "05611" "00481536" "00006" "Isolated (sporadic)" "4y1m" "see paper; ..., moderate intellectual disability; no autism spectrum disorder; behavioral issues; speech delay; no epilepsy; hypotonia; MRI brain normal; growth failure; no microcephaly; no feeding issues; constipation; skeletal abnormalities; dysmorphic features; no cardiac issues; no eye anomalies; hypothyreosis" "" "" "" "" "" "" "" "MRD64" "neurodevelopmental disorder" "" "0000365810" "05611" "00481537" "00006" "Isolated (sporadic)" "10m" "see paper; ..., developmental delay; no autism spectrum disorder; no behavioral issues; no speech delay; no epilepsy; hypotonia; MRI brain normal; no short stature; no microcephaly; no feeding issues; no constipation; no skeletal abnormalities; dysmorphic features; no cardiac issues; eye anomalies; nuchal NF, torticollis" "" "" "" "" "" "" "" "MRD64" "neurodevelopmental disorder" "" "0000365811" "05611" "00481538" "00006" "Isolated (sporadic)" "19y" "see paper; ..., mild developmental delay; no autism spectrum disorder; no behavioral issues; speech delay; no epilepsy; no tone abnormalities; MRI brain normal; growth failure; microcephaly; no feeding issues; no constipation; no skeletal abnormalities; no dysmorphic features; no cardiac issues; no eye anomalies" "" "" "" "" "" "" "" "MRD64" "neurodevelopmental disorder" "" "0000365812" "05611" "00481539" "00006" "Isolated (sporadic)" "24y" "see paper; ..., mild gdevelopmental delay; autism spectrum disorder; behavioral issues; speech delay; no epilepsy; no tone abnormalities; MRI brain atypical gyri; short stature; no microcephaly; no feeding issues; constipation; cardiac issues; eye anomalies" "" "" "" "" "" "" "" "MRD64" "neurodevelopmental disorder" "" "0000365813" "05611" "00481540" "00006" "Familial, autosomal dominant" "2y" "see paper; ..., developmental delay; speech delay; epilepsy; mixed tone abnormalities; MRI brain post-hemorrhagic hydrocephalus, focal cystic encephalomalacia frontal lobe (right); no short stature; microcephaly; no feeding issues; no constipation; no skeletal abnormalities; no dysmorphic features; patent foramen ovale; no eye anomalies; prematurity" "" "" "" "" "" "" "" "MRD64" "neurodevelopmental disorder" "" "0000365814" "05611" "00481541" "00006" "Isolated (sporadic)" "2y10m" "see paper; ..., mild intellectual disability; autism spectrum disorder; behavioral issues; mixed tone abnormalities; MRI brain lacunar insult L subcortical white matter; no short stature; no microcephaly; dysmorphic features; eye anomalies; hearing loss (GJB2 mutation)" "" "" "" "" "" "" "" "MRD64" "neurodevelopmental disorder" "" "0000365815" "05611" "00481542" "00006" "Isolated (sporadic)" "6y" "see paper; ..., no intellectual disability; autism spectrum disorder; no behavioral issues; speech delay; no epilepsy; no short stature; no microcephaly; feeding issues; constipation; no skeletal abnormalities; no dysmorphic features; no cardiac issues; no eye anomalies" "" "" "" "" "" "" "" "MRD64" "neurodevelopmental disorder" "" "0000365816" "05611" "00481543" "00006" "Isolated (sporadic)" "3y" "see paper; ..., moderate intellectual disability; no autism spectrum disorder; no behavioral issues; speech delay; no epilepsy; hypotonia; MRI brain brainstem hypoplasia, cerebellum dysplasia/hypoplasia with Dandy Walker malformation; growth failure; no microcephaly; feeding issues; constipation; no skeletal abnormalities; no dysmorphic features; cardiac issues; no eye anomalies" "" "" "" "" "" "" "" "MRD64" "neurodevelopmental disorder" "" "0000365817" "05611" "00481544" "00006" "Isolated (sporadic)" "5y3m" "see paper; ..., moderate intellectual disability; no autism spectrum disorder; no behavioral issues; speech delay; no epilepsy; no tone abnormalities; MRI brain normal; no short stature; no microcephaly; feeding issues; no constipation; no skeletal abnormalities; no dysmorphic features; no cardiac issues; no eye anomalies; situs inversus" "" "" "" "" "" "" "" "MRD64" "neurodevelopmental disorder" "" "0000365818" "05611" "00481545" "00006" "Isolated (sporadic)" "9y1m" "see paper; ..., global developmental delay, mild intellectual disability; autism spectrum disorder; attention-deficit hyperactivity disorders; speech delay; epilepsy; hypotonia; short stature; no microcephaly; no feeding issues; no constipation; no skeletal abnormalities; no dysmorphic features; no cardiac issues; no eye anomalies; inguinal hernia" "" "" "" "" "" "" "" "MRD64" "neurodevelopmental disorder" "" "0000365819" "05611" "00481546" "00006" "Isolated (sporadic)" "7y" "see paper; ..., mild intellectual disability; no autism spectrum disorder; no behavioral issues; speech delay; no epilepsy; no tone abnormalities; poor growth; no microcephaly; no feeding issues; no constipation; no skeletal abnormalities; dysmorphic features; no cardiac issues; eye anomalies" "" "" "" "" "" "" "" "MRD64" "neurodevelopmental disorder" "" "0000365820" "05611" "00481547" "00006" "Isolated (sporadic)" "3y3m" "see paper; ..., moderate intellectual disability; autism spectrum disorder; attention-deficit hyperactivity disorders; speech delay; no epilepsy; no tone abnormalities; MRI brain cyst left ventricle; growth failure; microcephaly; feeding issues; no constipation; skeletal abnormalities; dysmorphic features; cardiac issues; no eye anomalies" "" "" "" "" "" "" "" "MRD64" "neurodevelopmental disorder" "" "0000365821" "05611" "00481548" "00006" "Isolated (sporadic)" "18y" "see paper; ..., severe gdevelopmental delay; ASD features; behavioral issues; speech delay; no epilepsy; hypotonia; no short stature; no microcephaly; no feeding issues; no constipation; dysmorphic features; no eye anomalies; abnormal skin pigmentation" "" "" "" "" "" "" "" "MRD64" "neurodevelopmental disorder" "" "0000365822" "05611" "00481549" "00006" "Isolated (sporadic)" "6y7m" "see paper; ..., mild intellectual disability; autism spectrum disorder; no behavioral issues; speech delay; no epilepsy; no microcephaly" "" "" "" "" "" "" "" "MRD64" "neurodevelopmental disorder" "" "0000365823" "05611" "00481550" "00006" "Isolated (sporadic)" "18y" "see paper; ..., mild intellectual disability; autism spectrum disorder; attention-deficit hyperactivity disorders; speech delay; no epilepsy; no tone abnormalities; MRI brain normal; no short stature; no microcephaly; feeding issues; constipation; no skeletal abnormalities; no dysmorphic features; no cardiac issues; no eye anomalies" "" "" "" "" "" "" "" "MRD64" "neurodevelopmental disorder" "" "0000365824" "05611" "00481551" "00006" "Isolated (sporadic)" "6y" "see paper; ..., moderate intellectual disability; autism spectrum disorder; no behavioral issues; speech delay; no epilepsy; no tone abnormalities; MRI brain normal; no short stature; no microcephaly; no feeding issues; no constipation; no skeletal abnormalities; dysmorphic features; no cardiac issues; no eye anomalies" "" "" "" "" "" "" "" "MRD64" "neurodevelopmental disorder" "" "0000365825" "05611" "00481552" "00006" "Isolated (sporadic)" "3y11m" "see paper; ..., severe intellectual disability; autism spectrum disorder; attention-deficit hyperactivity disorders; speech delay; no epilepsy; growth failure; no microcephaly; no feeding issues; no constipation; no skeletal abnormalities; no dysmorphic features; no cardiac issues; no eye anomalies" "" "" "" "" "" "" "" "MRD64" "neurodevelopmental disorder" "" "0000365826" "05611" "00481553" "00006" "Isolated (sporadic)" "3y" "see paper; ..., global developmental delay; ASD features; ADHD features; speech delay; no epilepsy; mild hypotonia; growth failure; mild microcephaly; feeding issues; no constipation; no skeletal abnormalities; no dysmorphic features; no cardiac issues; no eye anomalies" "" "" "" "" "" "" "" "MRD64" "neurodevelopmental disorder" "" "0000365827" "05611" "00481554" "00006" "Isolated (sporadic)" "2y" "see paper; ..., intellectual disability; ASD features; behavioral issues; speech delay; no short stature; no microcephaly; feeding issues; no constipation; no skeletal abnormalities; dysmorphic features; no cardiac issues; eye anomalies; hypermobility; normocytic anemia" "" "" "" "" "" "" "" "MRD64" "neurodevelopmental disorder" "" "0000365828" "05611" "00481555" "00006" "Isolated (sporadic)" "2y1m" "see paper; ..., developmental delay; autism spectrum disorder; no behavioral issues; speech delay; epilepsy; hypotonia; MRI brain white matter abnormalities; ataxia; no short stature; no microcephaly; feeding issues; no constipation; leg length discrepancy; no dysmorphic features; no cardiac issues; no eye anomalies; restless legs; elevated LFTs, low carnitine" "" "" "" "" "" "" "" "MRD64" "neurodevelopmental disorder" "" "0000365829" "05611" "00481556" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000365830" "05611" "00481557" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000365831" "05611" "00481558" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000365832" "05611" "00481559" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000365833" "05611" "00481560" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000365834" "05611" "00481561" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000365835" "05611" "00481562" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000365836" "05611" "00481563" "00006" "Familial, autosomal dominant" "" "see paper; ..., mother mild intellectual disability" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000365837" "05611" "00481564" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000365838" "05611" "00481565" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000365839" "05611" "00481566" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000365841" "00198" "00481568" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "autism spectrum disorder/intellecutal disability" "" "0000365842" "05611" "00481569" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000365843" "05611" "00481570" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000365844" "00198" "00481571" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "autism spectrum disorder/intellecutal disability" "" "0000365845" "00198" "00481572" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "autism spectrum disorder/intellecutal disability" "" "0000365846" "05611" "00481573" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000365847" "00198" "00481574" "00006" "Unknown" "" "see paper; ..., hypoplastic left heart syndrome, multiple additional cardiac defects; neurodevelopmental features unknown" "" "" "" "" "" "" "" "" "cardiac defects" "" "0000367080" "05162" "00484301" "03544" "Isolated (sporadic)" "" "HP:0001263, HP:0003508, HP:0002750, HP:0001256, HP:0000750, HP:0000431, HP:0000414, HP:0000154, HP:6000460" "" "" "" "" "" "" "" "MRD64" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 59 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000111882" "00111417" "1" "00729" "00729" "2017-08-03 10:32:41" "" "" "SEQ-NG" "DNA" "" "" "0000184010" "00183050" "1" "00006" "00006" "2018-10-12 16:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290476" "00289306" "1" "01807" "01807" "2020-03-02 12:46:27" "" "" "SEQ" "DNA" "" "" "0000402540" "00401296" "1" "02494" "02494" "2022-01-31 10:12:07" "" "" "SEQ-NG" "DNA" "" "WES" "0000465993" "00464363" "1" "01164" "01164" "2025-03-06 11:24:24" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000466872" "00465222" "1" "00006" "00006" "2025-04-17 19:36:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000466873" "00465223" "1" "00006" "00006" "2025-04-17 19:55:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467945" "00466289" "1" "03544" "03544" "2025-08-14 12:45:50" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000473687" "00472017" "1" "01164" "01164" "2026-01-05 15:15:28" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000483100" "00481453" "1" "05013" "05013" "2026-07-25 09:51:23" "" "" "SEQ-NG" "DNA" "" "" "0000483101" "00481455" "1" "05013" "05013" "2026-07-25 10:28:08" "" "" "SEQ-NG" "DNA" "" "" "0000483102" "00481456" "1" "05013" "05013" "2026-07-25 10:34:03" "" "" "SEQ-NG" "DNA" "" "" "0000483174" "00481528" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000483175" "00481529" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000483176" "00481530" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000483177" "00481531" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000483178" "00481532" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000483179" "00481533" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000483180" "00481534" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000483181" "00481535" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000483182" "00481536" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000483183" "00481537" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000483184" "00481538" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000483185" "00481539" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000483186" "00481540" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000483187" "00481541" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000483188" "00481542" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000483189" "00481543" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000483190" "00481544" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000483191" "00481545" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000483192" "00481546" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000483193" "00481547" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000483194" "00481548" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000483195" "00481549" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000483196" "00481550" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000483197" "00481551" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000483198" "00481552" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000483199" "00481553" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000483200" "00481554" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000483201" "00481555" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000483202" "00481556" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000483203" "00481557" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000483204" "00481558" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000483205" "00481559" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000483206" "00481560" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000483207" "00481561" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000483208" "00481562" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000483209" "00481563" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000483210" "00481564" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000483211" "00481565" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000483212" "00481566" "1" "00006" "00006" "2026-07-27 11:10:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000483214" "00481568" "1" "00006" "00006" "2026-07-27 12:07:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000483215" "00481569" "1" "00006" "00006" "2026-07-27 12:07:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000483216" "00481570" "1" "00006" "00006" "2026-07-27 12:07:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000483217" "00481571" "1" "00006" "00006" "2026-07-27 12:07:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000483218" "00481572" "1" "00006" "00006" "2026-07-27 12:07:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000483219" "00481573" "1" "00006" "00006" "2026-07-27 12:07:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000483220" "00481574" "1" "00006" "00006" "2026-07-27 12:07:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000485951" "00484301" "1" "03544" "03544" "2026-09-02 08:03:00" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000111882" "ZNF292" "0000465993" "ZNF292" "0000473687" "ZNF292" ## 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 = 181 "{{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}}" "0000179039" "0" "90" "6" "87966413" "87966416" "del" "0" "00729" "ZNF292_000001" "g.87966413_87966416del" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.87256695_87256698del" "" "pathogenic" "ACMG" "0000313152" "0" "50" "6" "87968005" "87968005" "subst" "0.000200343" "02325" "ZNF292_000002" "g.87968005C>T" "" "" "" "ZNF292(NM_015021.3):c.4658C>T (p.T1553M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87258287C>T" "" "VUS" "" "0000313153" "0" "50" "6" "87968280" "87968280" "subst" "0" "02325" "ZNF292_000003" "g.87968280C>T" "" "" "" "ZNF292(NM_015021.3):c.4933C>T (p.Q1645*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87258562C>T" "" "VUS" "" "0000320235" "0" "10" "6" "87970650" "87970650" "subst" "0.0081336" "01943" "ZNF292_000004" "g.87970650G>A" "" "" "" "ZNF292(NM_015021.2):c.7303G>A (p.V2435I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87260932G>A" "" "benign" "" "0000344721" "0" "50" "6" "87971399" "87971399" "subst" "0" "02327" "ZNF292_000006" "g.87971399A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87261681A>C" "" "VUS" "" "0000407981" "0" "50" "6" "87966175" "87966176" "del" "0" "00006" "ZNF292_000007" "g.87966175_87966176del" "" "{PMID:de Ligt 2012:23033978}" "" "NM_015021.1:c.2828_2829del (Leu943Glnfs*5)" "variant not associated with phenotype" "De novo" "" "" "0" "" "" "g.87256457_87256458del" "" "VUS" "" "0000529959" "0" "30" "6" "87943215" "87943215" "subst" "1.63784E-5" "01943" "ZNF292_000008" "g.87943215A>G" "" "" "" "ZNF292(NM_015021.2):c.711A>G (p.T237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87233497A>G" "" "likely benign" "" "0000529960" "0" "50" "6" "87965727" "87965727" "del" "0" "02325" "ZNF292_000009" "g.87965727del" "" "" "" "ZNF292(NM_001351444.2):c.1960delT (p.Y654Ifs*64)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87256009del" "" "VUS" "" "0000529961" "0" "50" "6" "87966130" "87966132" "del" "0" "01943" "ZNF292_000010" "g.87966130_87966132del" "" "" "" "ZNF292(NM_015021.2):c.2783_2785delCTC (p.P928del), ZNF292(NM_015021.3):c.2783_2785delCTC (p.P928del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87256412_87256414del" "" "VUS" "" "0000529963" "0" "50" "6" "87966562" "87966562" "subst" "0" "02325" "ZNF292_000012" "g.87966562C>T" "" "" "" "ZNF292(NM_001351444.2):c.2795C>T (p.A932V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87256844C>T" "" "VUS" "" "0000529964" "0" "50" "6" "87966747" "87966747" "subst" "7.34095E-5" "02325" "ZNF292_000013" "g.87966747C>T" "" "" "" "ZNF292(NM_001351444.2):c.2980C>T (p.R994C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87257029C>T" "" "VUS" "" "0000529966" "0" "30" "6" "87966773" "87966773" "subst" "0.0015468" "01943" "ZNF292_000014" "g.87966773T>A" "" "" "" "ZNF292(NM_015021.2):c.3426T>A (p.A1142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87257055T>A" "" "likely benign" "" "0000529967" "0" "30" "6" "87966871" "87966871" "subst" "2.84872E-5" "01943" "ZNF292_000015" "g.87966871A>G" "" "" "" "ZNF292(NM_015021.1):c.3524A>G (p.(Asn1175Ser)), ZNF292(NM_015021.2):c.3524A>G (p.N1175S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87257153A>G" "" "likely benign" "" "0000529968" "0" "30" "6" "87969170" "87969170" "subst" "0.000559916" "01943" "ZNF292_000016" "g.87969170A>G" "" "" "" "ZNF292(NM_015021.2):c.5823A>G (p.Q1941=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87259452A>G" "" "likely benign" "" "0000529969" "0" "30" "6" "87969411" "87969411" "subst" "0.00141757" "01943" "ZNF292_000017" "g.87969411G>T" "" "" "" "ZNF292(NM_015021.2):c.6064G>T (p.A2022S), ZNF292(NM_015021.3):c.6064G>T (p.(Ala2022Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87259693G>T" "" "likely benign" "" "0000529970" "0" "50" "6" "87970156" "87970156" "subst" "1.62845E-5" "01943" "ZNF292_000018" "g.87970156G>A" "" "" "" "ZNF292(NM_015021.2):c.6809G>A (p.R2270Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87260438G>A" "" "VUS" "" "0000529971" "0" "50" "6" "87970884" "87970886" "del" "0" "01943" "ZNF292_000019" "g.87970884_87970886del" "" "" "" "ZNF292(NM_015021.2):c.7537_7539delGAT (p.D2513del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87261166_87261168del" "" "VUS" "" "0000610543" "0" "30" "6" "87953322" "87953322" "subst" "0.00100557" "01804" "ZNF292_000020" "g.87953322T>G" "" "" "" "ZNF292(NM_015021.1):c.871T>G (p.(Cys291Gly)), ZNF292(NM_015021.3):c.871T>G (p.C291G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87243604T>G" "" "likely benign" "" "0000610544" "0" "50" "6" "87966550" "87966550" "subst" "0" "02327" "ZNF292_000021" "g.87966550T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87256832T>G" "" "VUS" "" "0000610545" "0" "70" "6" "87966666" "87966666" "subst" "0" "02327" "ZNF292_000022" "g.87966666C>T" "" "" "" "ZNF292(NM_015021.3):c.3319C>T (p.R1107*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87256948C>T" "" "likely pathogenic" "" "0000610546" "0" "50" "6" "87966666" "87966666" "subst" "0" "02329" "ZNF292_000022" "g.87966666C>T" "" "" "" "ZNF292(NM_015021.3):c.3319C>T (p.R1107*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87256948C>T" "" "VUS" "" "0000647148" "0" "50" "6" "87971435" "87971435" "del" "0" "01807" "ZNF292_000024" "g.87971435del" "" "" "" "8088delA" "" "Unknown" "" "" "0" "" "" "g.87261717del" "" "VUS" "" "0000655672" "0" "50" "6" "87965464" "87965464" "subst" "0" "02327" "ZNF292_000025" "g.87965464A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87255746A>T" "" "VUS" "" "0000655673" "0" "70" "6" "87969293" "87969297" "del" "0" "02327" "ZNF292_000026" "g.87969293_87969297del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87259575_87259579del" "" "likely pathogenic" "" "0000677900" "0" "50" "6" "87970428" "87970428" "subst" "1.22984E-5" "01943" "ZNF292_000027" "g.87970428C>T" "" "" "" "ZNF292(NM_001351444.1):c.6661C>T (p.R2221C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689817" "0" "50" "6" "87966130" "87966132" "del" "0" "02325" "ZNF292_000010" "g.87966130_87966132del" "" "" "" "ZNF292(NM_015021.2):c.2783_2785delCTC (p.P928del), ZNF292(NM_015021.3):c.2783_2785delCTC (p.P928del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689818" "0" "30" "6" "87968258" "87968258" "subst" "0.00102757" "01943" "ZNF292_000028" "g.87968258A>G" "" "" "" "ZNF292(NM_001351444.1):c.4491A>G (p.P1497=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689819" "0" "30" "6" "87968683" "87968683" "subst" "0" "01943" "ZNF292_000029" "g.87968683G>A" "" "" "" "ZNF292(NM_001351444.1):c.4916G>A (p.G1639D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000708294" "0" "90" "6" "87968186" "87968187" "del" "0" "03779" "ZNF292_000030" "g.87968186_87968187del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000721130" "0" "50" "6" "87966307" "87966307" "del" "0" "02329" "ZNF292_000011" "g.87966307del" "" "" "" "ZNF292(NM_015021.3):c.2960delA (p.Q987Rfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721131" "0" "50" "6" "87968677" "87968677" "subst" "0.000564588" "01943" "ZNF292_000031" "g.87968677C>T" "" "" "" "ZNF292(NM_001351444.1):c.4910C>T (p.S1637F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721132" "0" "50" "6" "87969261" "87969261" "subst" "0" "02329" "ZNF292_000032" "g.87969261C>T" "" "" "" "ZNF292(NM_001351444.2):c.5494C>T (p.H1832Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721133" "0" "30" "6" "87969321" "87969321" "subst" "0.000750822" "01943" "ZNF292_000033" "g.87969321T>C" "" "" "" "ZNF292(NM_001351444.1):c.5554T>C (p.S1852P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721134" "0" "90" "6" "87969507" "87969508" "del" "0" "02329" "ZNF292_000034" "g.87969507_87969508del" "" "" "" "ZNF292(NM_001351444.2):c.5740_5741delGA (p.E1914Kfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721135" "0" "50" "6" "87971217" "87971217" "subst" "0" "02325" "ZNF292_000035" "g.87971217C>T" "" "" "" "ZNF292(NM_015021.3):c.7870C>T (p.H2624Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802754" "0" "50" "6" "87965535" "87965535" "subst" "0" "02325" "ZNF292_000036" "g.87965535C>T" "" "" "" "ZNF292(NM_015021.3):c.2188C>T (p.H730Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802755" "0" "30" "6" "87966300" "87966300" "subst" "0" "01943" "ZNF292_000037" "g.87966300G>C" "" "" "" "ZNF292(NM_001351444.1):c.2533G>C (p.G845R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802756" "0" "70" "6" "87966336" "87966336" "del" "0" "02329" "ZNF292_000038" "g.87966336del" "" "" "" "ZNF292(NM_001351444.2):c.2569delG (p.D857Mfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000802757" "0" "30" "6" "87968780" "87968780" "subst" "0.00012274" "01943" "ZNF292_000039" "g.87968780G>A" "" "" "" "ZNF292(NM_001351444.1):c.5013G>A (p.P1671=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000836769" "0" "70" "6" "87969507" "87969508" "del" "0" "02494" "ZNF292_000034" "g.87969507_87969508del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.87259789_87259790del" "" "likely pathogenic (dominant)" "" "0000860538" "0" "30" "6" "87966037" "87966037" "subst" "0.00307904" "01804" "ZNF292_000040" "g.87966037C>T" "" "" "" "ZNF292(NM_015021.1):c.2690C>T (p.(Ser897Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887493" "0" "90" "6" "87965143" "87965144" "del" "0" "02325" "ZNF292_000041" "g.87965143_87965144del" "" "" "" "ZNF292(NM_015021.3):c.1796_1797delGA (p.R599Tfs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887494" "0" "30" "6" "87967405" "87967405" "subst" "5.37079E-5" "02325" "ZNF292_000042" "g.87967405G>A" "" "" "" "ZNF292(NM_015021.3):c.4058G>A (p.G1353E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887495" "0" "50" "6" "87970968" "87970969" "del" "0" "02325" "ZNF292_000043" "g.87970968_87970969del" "" "" "" "ZNF292(NM_015021.3):c.7621_7622delCA (p.Q2541Kfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912596" "0" "70" "6" "87964905" "87964908" "del" "0" "02329" "ZNF292_000044" "g.87964905_87964908del" "" "" "" "ZNF292(NM_001351444.2):c.1138_1141delGAGA (p.E380*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000912597" "0" "90" "6" "87966181" "87966182" "del" "0" "02329" "ZNF292_000045" "g.87966181_87966182del" "" "" "" "ZNF292(NM_001351444.2):c.2414_2415delAG (p.Q805Rfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912598" "0" "70" "6" "87969393" "87969393" "subst" "0" "02327" "ZNF292_000046" "g.87969393A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000912599" "0" "90" "6" "87969918" "87969918" "subst" "0" "02327" "ZNF292_000047" "g.87969918C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000924586" "0" "70" "6" "87953298" "87953298" "subst" "0" "02329" "ZNF292_000048" "g.87953298C>T" "" "" "" "ZNF292(NM_001351444.2):c.427C>T (p.Q143*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000924587" "0" "50" "6" "87964573" "87964573" "subst" "0" "02327" "ZNF292_000049" "g.87964573T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924588" "0" "50" "6" "87964632" "87964632" "subst" "0" "02327" "ZNF292_000050" "g.87964632C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929250" "0" "30" "6" "87953322" "87953322" "subst" "0.00100557" "02325" "ZNF292_000020" "g.87953322T>G" "" "" "" "ZNF292(NM_015021.1):c.871T>G (p.(Cys291Gly)), ZNF292(NM_015021.3):c.871T>G (p.C291G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929251" "0" "50" "6" "87967530" "87967530" "subst" "0" "02327" "ZNF292_000051" "g.87967530T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964297" "0" "30" "6" "87970615" "87970615" "subst" "0.000492874" "02325" "ZNF292_000053" "g.87970615T>A" "" "" "" "ZNF292(NM_015021.3):c.7268T>A (p.L2423H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977391" "0" "30" "6" "87925425" "87925425" "subst" "0" "01804" "ZNF292_000054" "g.87925425C>A" "" "" "" "ZNF292(NM_015021.3):c.169-196C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977392" "0" "30" "6" "87971482" "87971482" "subst" "4.08684E-5" "01804" "ZNF292_000055" "g.87971482T>C" "" "" "" "ZNF292(NM_015021.3):c.8135T>C (p.(Ile2712Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995945" "0" "30" "6" "87865349" "87865349" "subst" "0" "01804" "ZNF292_000056" "g.87865349G>A" "" "" "" "ZNF292(NM_015021.1):c.40G>A (p.(Gly14Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995946" "0" "30" "6" "87865371" "87865371" "subst" "2.11173E-5" "01804" "ZNF292_000057" "g.87865371A>G" "" "" "" "ZNF292(NM_015021.1):c.62A>G (p.(Glu21Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995947" "0" "30" "6" "87928374" "87928374" "subst" "0" "01804" "ZNF292_000058" "g.87928374G>A" "" "" "" "ZNF292(NM_015021.1):c.463G>A (p.(Ala155Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995948" "0" "50" "6" "87953243" "87953243" "subst" "2.42683E-5" "01804" "ZNF292_000059" "g.87953243A>T" "" "" "" "ZNF292(NM_015021.1):c.792A>T (p.(Glu264Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995949" "0" "50" "6" "87955295" "87955295" "subst" "0" "01804" "ZNF292_000060" "g.87955295G>A" "" "" "" "ZNF292(NM_015021.1):c.953G>A (p.(Arg318His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995950" "0" "50" "6" "87964677" "87964677" "subst" "0" "01804" "ZNF292_000061" "g.87964677C>T" "" "" "" "ZNF292(NM_015021.1):c.1330C>T (p.(Pro444Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995951" "0" "50" "6" "87964813" "87964813" "subst" "0" "01804" "ZNF292_000062" "g.87964813G>C" "" "" "" "ZNF292(NM_015021.1):c.1466G>C (p.(Ser489Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995952" "0" "70" "6" "87965107" "87965108" "del" "0" "01804" "ZNF292_000063" "g.87965107_87965108del" "" "" "" "ZNF292(NM_015021.1):c.1760_1761delAT (p.(His587fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000995953" "0" "50" "6" "87965533" "87965533" "subst" "4.07093E-6" "01804" "ZNF292_000064" "g.87965533G>A" "" "" "" "ZNF292(NM_015021.1):c.2186G>A (p.(Arg729Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995954" "0" "30" "6" "87965560" "87965560" "subst" "4.88556E-5" "01804" "ZNF292_000065" "g.87965560A>G" "" "" "" "ZNF292(NM_015021.1):c.2213A>G (p.(Asn738Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995955" "0" "30" "6" "87965752" "87965752" "subst" "0" "01804" "ZNF292_000066" "g.87965752A>G" "" "" "" "ZNF292(NM_015021.1):c.2405A>G (p.(Gln802Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995956" "0" "30" "6" "87965841" "87965841" "subst" "0" "01804" "ZNF292_000067" "g.87965841A>C" "" "" "" "ZNF292(NM_015021.1):c.2494A>C (p.(Ser832Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995957" "0" "30" "6" "87965913" "87965913" "subst" "0" "01804" "ZNF292_000068" "g.87965913G>C" "" "" "" "ZNF292(NM_015021.1):c.2566G>C (p.(Glu856Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995958" "0" "50" "6" "87966075" "87966075" "subst" "4.12766E-6" "01804" "ZNF292_000069" "g.87966075C>T" "" "" "" "ZNF292(NM_015021.1):c.2728C>T (p.(Leu910Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995959" "0" "30" "6" "87966091" "87966091" "subst" "0" "01804" "ZNF292_000070" "g.87966091G>A" "" "" "" "ZNF292(NM_015021.1):c.2744G>A (p.(Gly915Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995960" "0" "50" "6" "87966433" "87966435" "del" "0" "01804" "ZNF292_000071" "g.87966433_87966435del" "" "" "" "ZNF292(NM_015021.1):c.3086_3088delTGA (p.(Met1029del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995961" "0" "30" "6" "87966523" "87966523" "subst" "4.8897E-5" "01804" "ZNF292_000072" "g.87966523A>G" "" "" "" "ZNF292(NM_015021.1):c.3176A>G (p.(Asn1059Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995962" "0" "30" "6" "87966574" "87966574" "subst" "4.88918E-5" "01804" "ZNF292_000073" "g.87966574C>T" "" "" "" "ZNF292(NM_015021.1):c.3227C>T (p.(Pro1076Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995963" "0" "50" "6" "87966748" "87966748" "subst" "0" "01804" "ZNF292_000074" "g.87966748G>T" "" "" "" "ZNF292(NM_015021.1):c.3401G>T (p.(Arg1134Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995964" "0" "30" "6" "87966765" "87966765" "subst" "0" "01804" "ZNF292_000075" "g.87966765C>G" "" "" "" "ZNF292(NM_015021.1):c.3418C>G (p.(Gln1140Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995965" "0" "30" "6" "87966871" "87966871" "subst" "2.84872E-5" "01804" "ZNF292_000015" "g.87966871A>G" "" "" "" "ZNF292(NM_015021.1):c.3524A>G (p.(Asn1175Ser)), ZNF292(NM_015021.2):c.3524A>G (p.N1175S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995966" "0" "30" "6" "87966889" "87966889" "subst" "1.22077E-5" "01804" "ZNF292_000076" "g.87966889C>T" "" "" "" "ZNF292(NM_015021.1):c.3542C>T (p.(Ser1181Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995967" "0" "30" "6" "87966956" "87966956" "subst" "4.06888E-6" "01804" "ZNF292_000077" "g.87966956G>C" "" "" "" "ZNF292(NM_015021.1):c.3609G>C (p.(Leu1203Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995968" "0" "30" "6" "87966982" "87966982" "subst" "1.22186E-5" "01804" "ZNF292_000078" "g.87966982A>C" "" "" "" "ZNF292(NM_015021.1):c.3635A>C (p.(Asn1212Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995969" "0" "70" "6" "87967011" "87967011" "subst" "0" "01804" "ZNF292_000079" "g.87967011G>T" "" "" "" "ZNF292(NM_015021.1):c.3664G>T (p.(Glu1222*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000995970" "0" "30" "6" "87967348" "87967348" "subst" "2.54797E-5" "01804" "ZNF292_000080" "g.87967348A>G" "" "" "" "ZNF292(NM_015021.1):c.4001A>G (p.(Asn1334Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995971" "0" "30" "6" "87967387" "87967387" "subst" "2.9189E-5" "01804" "ZNF292_000081" "g.87967387G>A" "" "" "" "ZNF292(NM_015021.1):c.4040G>A (p.(Arg1347His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995972" "0" "50" "6" "87967413" "87967413" "subst" "0" "01804" "ZNF292_000082" "g.87967413A>G" "" "" "" "ZNF292(NM_015021.1):c.4066A>G (p.(Arg1356Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995973" "0" "50" "6" "87967984" "87967984" "subst" "4.09286E-6" "01804" "ZNF292_000083" "g.87967984T>G" "" "" "" "ZNF292(NM_015021.1):c.4637T>G (p.(Leu1546Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995974" "0" "30" "6" "87968116" "87968116" "subst" "0" "01804" "ZNF292_000084" "g.87968116C>G" "" "" "" "ZNF292(NM_015021.1):c.4769C>G (p.(Pro1590Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995975" "0" "30" "6" "87968125" "87968125" "subst" "3.25728E-5" "01804" "ZNF292_000085" "g.87968125G>C" "" "" "" "ZNF292(NM_015021.1):c.4778G>C (p.(Gly1593Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995976" "0" "30" "6" "87968196" "87968196" "subst" "0" "01804" "ZNF292_000086" "g.87968196T>A" "" "" "" "ZNF292(NM_015021.1):c.4849T>A (p.(Ser1617Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995977" "0" "30" "6" "87968319" "87968319" "subst" "0" "01804" "ZNF292_000087" "g.87968319A>G" "" "" "" "ZNF292(NM_015021.1):c.4972A>G (p.(Ile1658Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995978" "0" "30" "6" "87968320" "87968320" "subst" "2.03807E-5" "01804" "ZNF292_000088" "g.87968320T>C" "" "" "" "ZNF292(NM_015021.1):c.4973T>C (p.(Ile1658Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995979" "0" "30" "6" "87968478" "87968478" "subst" "4.89964E-5" "01804" "ZNF292_000089" "g.87968478G>C" "" "" "" "ZNF292(NM_015021.1):c.5131G>C (p.(Glu1711Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995980" "0" "30" "6" "87969481" "87969481" "subst" "1.34368E-5" "01804" "ZNF292_000090" "g.87969481T>C" "" "" "" "ZNF292(NM_015021.1):c.6134T>C (p.(Val2045Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995981" "0" "30" "6" "87969622" "87969622" "subst" "4.07329E-6" "01804" "ZNF292_000091" "g.87969622A>G" "" "" "" "ZNF292(NM_015021.1):c.6275A>G (p.(Lys2092Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995982" "0" "30" "6" "87969841" "87969841" "subst" "0" "01804" "ZNF292_000092" "g.87969841C>T" "" "" "" "ZNF292(NM_015021.1):c.6494C>T (p.(Thr2165Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995983" "0" "30" "6" "87970272" "87970272" "subst" "1.63626E-5" "01804" "ZNF292_000093" "g.87970272G>C" "" "" "" "ZNF292(NM_015021.1):c.6925G>C (p.(Glu2309Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995984" "0" "30" "6" "87970294" "87970294" "subst" "1.22756E-5" "01804" "ZNF292_000094" "g.87970294G>A" "" "" "" "ZNF292(NM_015021.1):c.6947G>A (p.(Arg2316Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995985" "0" "30" "6" "87970617" "87970619" "del" "0" "01804" "ZNF292_000095" "g.87970617_87970619del" "" "" "" "ZNF292(NM_015021.1):c.7270_7272delCTT (p.(Leu2424del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995986" "0" "50" "6" "87970710" "87970711" "del" "0" "01804" "ZNF292_000096" "g.87970710_87970711del" "" "" "" "ZNF292(NM_015021.1):c.7363_7364delGT (p.(Val2455fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995987" "0" "30" "6" "87971032" "87971032" "subst" "4.52083E-5" "01804" "ZNF292_000097" "g.87971032G>A" "" "" "" "ZNF292(NM_015021.1):c.7685G>A (p.(Arg2562His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995988" "0" "50" "6" "87971421" "87971421" "subst" "1.22456E-5" "01804" "ZNF292_000098" "g.87971421G>A" "" "" "" "ZNF292(NM_015021.1):c.8074G>A (p.(Val2692Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995989" "0" "30" "6" "87971491" "87971491" "subst" "3.277E-5" "01804" "ZNF292_000099" "g.87971491G>T" "" "" "" "ZNF292(NM_015021.1):c.8144G>T (p.(Gly2715Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014249" "0" "30" "6" "87928426" "87928426" "subst" "9.67492E-5" "02325" "ZNF292_000100" "g.87928426A>G" "" "" "" "ZNF292(NM_015021.3):c.515A>G (p.Q172R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001023923" "0" "70" "6" "87965208" "87965209" "del" "0" "03779" "ZNF292_000101" "g.87965208_87965209del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001025284" "0" "50" "6" "87969876" "87969876" "subst" "1.22488E-5" "02325" "ZNF292_000102" "g.87969876A>G" "" "" "" "ZNF292(NM_015021.3):c.6529A>G (p.S2177G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001029806" "0" "90" "6" "87966779" "87966783" "del" "0" "01164" "ZNF292_000103" "g.87966779_87966783del" "" "" "" "" "ACMG: PVS1, PS4_SUP, PM2_SUP; Detected in at least 4 individuals with ZNF292-associated phenotype (3 index patients and one affected father)" "Germline" "?" "" "0" "" "" "g.87257061_87257065del" "VCV001803333.2" "pathogenic (dominant)" "ACMG" "0001030870" "3" "70" "6" "87967432" "87967432" "subst" "0" "00006" "ZNF292_000104" "g.87967432A>G" "" "{PMID:Desgrouas 2025:40011009}" "" "4086A>G (Lys1362Arg)" "" "Germline" "yes" "" "0" "" "" "g.87257714A>G" "" "VUS" "ACMG" "0001030876" "3" "70" "6" "87967432" "87967432" "subst" "0" "00006" "ZNF292_000104" "g.87967432A>G" "" "{PMID:Desgrouas 2025:40011009}" "" "4086A>G (Lys1362Arg)" "" "Germline" "yes" "" "0" "" "" "g.87257714A>G" "" "VUS" "ACMG" "0001035953" "0" "30" "6" "87955320" "87955320" "subst" "0" "01804" "ZNF292_000105" "g.87955320A>G" "" "" "" "ZNF292(NM_015021.3):c.978A>G (p.(Thr326=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035954" "0" "30" "6" "87963942" "87963942" "subst" "0" "01804" "ZNF292_000106" "g.87963942A>T" "" "" "" "ZNF292(NM_015021.3):c.1021-426A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035955" "0" "50" "6" "87967082" "87967082" "subst" "8.14584E-6" "01804" "ZNF292_000107" "g.87967082T>G" "" "" "" "ZNF292(NM_015021.3):c.3735T>G (p.(Asp1245Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035956" "0" "50" "6" "87968736" "87968736" "subst" "0" "01804" "ZNF292_000108" "g.87968736T>A" "" "" "" "ZNF292(NM_015021.3):c.5389T>A (p.(Ser1797Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035957" "0" "30" "6" "87969411" "87969411" "subst" "0.00141757" "01804" "ZNF292_000017" "g.87969411G>T" "" "" "" "ZNF292(NM_015021.2):c.6064G>T (p.A2022S), ZNF292(NM_015021.3):c.6064G>T (p.(Ala2022Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047364" "0" "70" "6" "87967445" "87967445" "subst" "0" "03544" "ZNF292_000109" "g.87967445G>A" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.87257727G>A" "{CV:4086075}" "likely pathogenic" "ACMG" "0001052432" "0" "50" "6" "87964731" "87964731" "subst" "0" "01804" "ZNF292_000110" "g.87964731G>A" "" "" "" "ZNF292(NM_015021.3):c.1384G>A (p.(Glu462Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052433" "0" "50" "6" "87965415" "87965415" "subst" "0" "01804" "ZNF292_000111" "g.87965415A>C" "" "" "" "ZNF292(NM_015021.3):c.2068A>C (p.(Lys690Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052434" "0" "50" "6" "87968913" "87968913" "subst" "4.08063E-6" "01804" "ZNF292_000112" "g.87968913C>T" "" "" "" "ZNF292(NM_015021.3):c.5566C>T (p.(Pro1856Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052435" "0" "30" "6" "87968962" "87968962" "subst" "8.56018E-5" "01804" "ZNF292_000113" "g.87968962C>A" "" "" "" "ZNF292(NM_015021.3):c.5615C>A (p.(Thr1872Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052436" "0" "50" "6" "87969240" "87969240" "subst" "4.93574E-6" "01804" "ZNF292_000114" "g.87969240C>T" "" "" "" "ZNF292(NM_015021.3):c.5893C>T (p.(Arg1965Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052437" "0" "30" "6" "87970251" "87970251" "subst" "0.000486437" "01804" "ZNF292_000115" "g.87970251A>G" "" "" "" "ZNF292(NM_015021.3):c.6904A>G (p.(Met2302Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052438" "0" "50" "6" "87970258" "87970258" "subst" "4.09229E-6" "01804" "ZNF292_000116" "g.87970258G>A" "" "" "" "ZNF292(NM_015021.3):c.6911G>A (p.(Ser2304Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001062560" "0" "50" "6" "87965672" "87965672" "del" "0" "01164" "ZNF292_000117" "g.87965672del" "" "" "" "" "ACMG: PVS1_strong, PM2_supporting" "Germline" "?" "" "" "" "" "g.87255954del" "" "VUS" "ACMG" "0001064586" "0" "30" "6" "87953227" "87953227" "subst" "0" "02325" "ZNF292_000118" "g.87953227T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001064587" "0" "50" "6" "87965370" "87965370" "subst" "0" "02325" "ZNF292_000119" "g.87965370C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064588" "0" "50" "6" "87967475" "87967475" "subst" "0" "02325" "ZNF292_000120" "g.87967475C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064589" "0" "30" "6" "87967728" "87967728" "subst" "4.88778E-5" "02325" "ZNF292_000121" "g.87967728C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001064590" "0" "30" "6" "87970351" "87970351" "subst" "0.000325411" "02325" "ZNF292_000122" "g.87970351G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001068943" "0" "50" "6" "87865328" "87865328" "subst" "0" "03779" "ZNF292_000123" "g.87865328G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0001070838" "0" "90" "6" "87969507" "87969508" "del" "0" "03779" "ZNF292_000034" "g.87969507_87969508del" "" "" "" "" "" "Unknown" "" "rs1301328139" "0" "" "" "" "" "pathogenic" "" "0001075685" "0" "90" "6" "87969627" "87969627" "subst" "0" "03779" "ZNF292_000124" "g.87969627C>T" "" "" "" "" "" "Unknown" "" "rs2127872172" "0" "" "" "" "" "pathogenic" "" "0001075686" "0" "70" "6" "87969627" "87969627" "subst" "0" "03779" "ZNF292_000124" "g.87969627C>T" "" "" "" "" "" "Unknown" "" "rs2127872172" "0" "" "" "" "" "likely pathogenic" "" "0001080495" "0" "70" "6" "87964880" "87964880" "del" "0" "05013" "ZNF292_000127" "g.87964880del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.87255162del" "" "pathogenic (dominant)" "" "0001080496" "0" "70" "6" "87966441" "87966441" "dup" "0" "05013" "ZNF292_000125" "g.87966441dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.87256723dup" "" "pathogenic (dominant)" "ACMG" "0001080497" "0" "70" "6" "87967344" "87967345" "del" "0" "05013" "ZNF292_000126" "g.87967344_87967345del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.87257626_87257627del" "" "pathogenic (dominant)" "ACMG" "0001080608" "0" "90" "6" "87925717" "87925717" "subst" "0" "00006" "chr6_008335" "g.87925717C>T" "" "{PMID:Mirzaa 2020:31723249}" "" "" "" "De novo" "" "rs865909396" "0" "" "" "g.87215999C>T" "" "pathogenic (dominant)" "" "0001080609" "0" "90" "6" "87928344" "87928344" "del" "0" "00006" "chr6_008336" "g.87928344del" "" "{PMID:Mirzaa 2020:31723249}" "" "" "" "De novo" "" "" "0" "" "" "g.87218626del" "" "pathogenic (dominant)" "" "0001080610" "0" "90" "6" "87964507" "87964507" "del" "0" "00006" "chr6_008337" "g.87964507del" "" "{PMID:Mirzaa 2020:31723249}" "" "" "" "De novo" "" "" "0" "" "" "g.87254789del" "" "pathogenic (dominant)" "" "0001080611" "0" "90" "6" "87964707" "87964707" "subst" "4.06914E-6" "00006" "chr6_008338" "g.87964707C>T" "" "{PMID:Mirzaa 2020:31723249}" "" "" "" "De novo" "" "" "0" "" "" "g.87254989C>T" "" "pathogenic (dominant)" "" "0001080612" "0" "90" "6" "87964914" "87964914" "subst" "0" "00006" "chr6_008339" "g.87964914C>T" "" "{PMID:Mirzaa 2020:31723249}" "" "" "" "De novo" "" "" "0" "" "" "g.87255196C>T" "" "pathogenic (dominant)" "" "0001080613" "0" "90" "6" "87965517" "87965517" "del" "0" "00006" "chr6_008340" "g.87965517del" "" "{PMID:Mirzaa 2020:31723249}" "" "" "" "De novo" "" "" "0" "" "" "g.87255799del" "" "pathogenic (dominant)" "" "0001080614" "0" "90" "6" "87965837" "87965841" "dup" "0" "00006" "chr6_008341" "g.87965837_87965841dup" "" "{PMID:Mirzaa 2020:31723249}" "" "2490_2494dupTCACA" "" "De novo" "" "" "0" "" "" "g.87256119_87256123dup" "" "pathogenic (dominant)" "" "0001080615" "0" "90" "6" "87966161" "87966168" "dup" "0" "00006" "chr6_008342" "g.87966161_87966168dup" "" "{PMID:Mirzaa 2020:31723249}" "" "" "" "De novo" "" "" "0" "" "" "g.87256443_87256450dup" "" "pathogenic (dominant)" "" "0001080616" "0" "90" "6" "87966413" "87966416" "del" "0" "00006" "ZNF292_000001" "g.87966413_87966416del" "" "{PMID:Mirzaa 2020:31723249}" "" "3066_3069delAAGA" "" "De novo" "" "" "0" "" "" "g.87256695_87256698del" "" "pathogenic (dominant)" "" "0001080617" "0" "90" "6" "87966413" "87966416" "del" "0" "00006" "ZNF292_000001" "g.87966413_87966416del" "" "{PMID:Mirzaa 2020:31723249}" "" "3067_3069delAAGA" "" "De novo" "" "" "0" "" "" "g.87256695_87256698del" "" "pathogenic (dominant)" "" "0001080618" "0" "90" "6" "87966807" "87966810" "del" "0" "00006" "chr6_008343" "g.87966807_87966810del" "" "{PMID:Mirzaa 2020:31723249}" "" "" "" "De novo" "" "" "0" "" "" "g.87257089_87257092del" "" "pathogenic (dominant)" "" "0001080619" "0" "90" "6" "87967056" "87967056" "dup" "0" "00006" "chr6_008344" "g.87967056dup" "" "{PMID:Mirzaa 2020:31723249}" "" "" "" "De novo" "" "" "0" "" "" "g.87257338dup" "" "pathogenic (dominant)" "" "0001080620" "21" "90" "6" "87967071" "87967071" "del" "0" "00006" "chr6_008345" "g.87967071del" "" "{PMID:Mirzaa 2020:31723249}" "" "" "" "Germline" "" "" "0" "" "" "g.87257353del" "" "pathogenic (dominant)" "" "0001080621" "0" "90" "6" "87967159" "87967159" "subst" "0" "00006" "chr6_008346" "g.87967159C>A" "" "{PMID:Mirzaa 2020:31723249}" "" "" "" "De novo" "" "" "0" "" "" "g.87257441C>A" "" "pathogenic (dominant)" "" "0001080622" "0" "90" "6" "87967764" "87967764" "dup" "0" "00006" "chr6_008347" "g.87967764dup" "" "{PMID:Mirzaa 2020:31723249}" "" "" "" "De novo" "" "" "0" "" "" "g.87258046dup" "" "pathogenic (dominant)" "" "0001080623" "0" "90" "6" "87968244" "87968244" "subst" "0" "00006" "chr6_008348" "g.87968244A>T" "" "{PMID:Mirzaa 2020:31723249}" "" "" "" "De novo" "" "" "0" "" "" "g.87258526A>T" "" "pathogenic (dominant)" "" "0001080624" "0" "90" "6" "87968532" "87968532" "subst" "0" "00006" "chr6_008349" "g.87968532C>T" "" "{PMID:Mirzaa 2020:31723249}" "" "" "" "De novo" "" "" "0" "" "" "g.87258814C>T" "" "pathogenic (dominant)" "" "0001080625" "0" "90" "6" "87968862" "87968916" "del" "0" "00006" "chr6_008350" "g.87968862_87968916del" "" "{PMID:Mirzaa 2020:31723249}" "" "" "" "De novo" "" "" "0" "" "" "g.87259144_87259198del" "" "pathogenic (dominant)" "" "0001080626" "0" "90" "6" "87969306" "87969312" "dup" "0" "00006" "chr6_008351" "g.87969306_87969312dup" "" "{PMID:Mirzaa 2020:31723249}" "" "5959_5965dupCCTTATG" "" "De novo" "" "" "0" "" "" "g.87259588_87259594dup" "" "pathogenic (dominant)" "" "0001080627" "0" "90" "6" "87969489" "87969492" "del" "0" "00006" "chr6_008352" "g.87969489_87969492del" "" "{PMID:Mirzaa 2020:31723249}" "" "6142_6145delAAAA" "" "De novo" "" "" "0" "" "" "g.87259771_87259774del" "" "pathogenic (dominant)" "" "0001080628" "0" "90" "6" "87969507" "87969508" "del" "0" "00006" "ZNF292_000034" "g.87969507_87969508del" "" "{PMID:Mirzaa 2020:31723249}" "" "" "" "De novo" "" "" "0" "" "" "g.87259789_87259790del" "" "pathogenic (dominant)" "" "0001080629" "0" "90" "6" "87969507" "87969508" "del" "0" "00006" "ZNF292_000034" "g.87969507_87969508del" "" "{PMID:Mirzaa 2020:31723249}" "" "" "" "De novo" "" "" "0" "" "" "g.87259789_87259790del" "" "pathogenic (dominant)" "" "0001080630" "0" "90" "6" "87969507" "87969508" "del" "0" "00006" "ZNF292_000034" "g.87969507_87969508del" "" "{PMID:Mirzaa 2020:31723249}" "" "" "" "De novo" "" "" "0" "" "" "g.87259789_87259790del" "" "pathogenic (dominant)" "" "0001080631" "0" "90" "6" "87969507" "87969508" "del" "0" "00006" "ZNF292_000034" "g.87969507_87969508del" "" "{PMID:Mirzaa 2020:31723249}" "" "" "" "De novo" "" "" "0" "" "" "g.87259789_87259790del" "" "pathogenic (dominant)" "" "0001080632" "0" "90" "6" "87969626" "87969626" "dup" "0" "00006" "chr6_008353" "g.87969626dup" "" "{PMID:Mirzaa 2020:31723249}" "" "" "" "De novo" "" "" "0" "" "" "g.87259908dup" "" "pathogenic (dominant)" "" "0001080633" "0" "90" "6" "87969690" "87969690" "subst" "0" "00006" "chr6_008354" "g.87969690C>T" "" "{PMID:Mirzaa 2020:31723249}" "" "" "" "De novo" "" "rs866467799" "0" "" "" "g.87259972C>T" "" "pathogenic (dominant)" "" "0001080634" "0" "90" "6" "87969888" "87969888" "subst" "0" "00006" "chr6_008355" "g.87969888C>T" "" "{PMID:Mirzaa 2020:31723249}" "" "" "" "De novo" "" "" "0" "" "" "g.87260170C>T" "" "pathogenic (dominant)" "" "0001080635" "0" "90" "6" "87970008" "87970011" "del" "0" "00006" "chr6_008356" "g.87970008_87970011del" "" "{PMID:Mirzaa 2020:31723249}" "" "6661_6664delTTAG" "" "De novo" "" "" "0" "" "" "g.87260290_87260293del" "" "pathogenic (dominant)" "" "0001080636" "0" "50" "6" "87964755" "87964755" "subst" "4.07289E-6" "00006" "chr6_008357" "g.87964755A>G" "" "{PMID:Mirzaa 2020:31723249}" "" "" "" "De novo" "" "" "0" "" "" "g.87255037A>G" "" "VUS" "" "0001080637" "0" "50" "6" "87965205" "87965205" "subst" "0" "00006" "chr6_008358" "g.87965205G>T" "" "{PMID:Mirzaa 2020:31723249}" "" "" "not paternally inherited" "Germline/De novo (untested)" "" "" "0" "" "" "g.87255487G>T" "" "VUS" "" "0001080638" "11" "50" "6" "87965244" "87965244" "subst" "0" "00006" "chr6_008359" "g.87965244C>T" "" "{PMID:Mirzaa 2020:31723249}" "" "" "" "Germline" "" "" "0" "" "" "g.87255526C>T" "" "VUS" "" "0001080639" "0" "50" "6" "87965257" "87965257" "del" "0" "00006" "chr6_008360" "g.87965257del" "" "{PMID:Mirzaa 2020:31723249}" "" "1910delA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.87255539del" "" "VUS" "" "0001080640" "0" "50" "6" "87966400" "87966400" "dup" "0" "00006" "chr6_008361" "g.87966400dup" "" "{PMID:Mirzaa 2020:31723249}" "" "3053dupC" "not maternally inherited" "Germline/De novo (untested)" "" "" "0" "" "" "g.87256682dup" "" "VUS" "" "0001080641" "0" "50" "6" "87968721" "87968725" "del" "0" "00006" "chr6_008362" "g.87968721_87968725del" "" "{PMID:Mirzaa 2020:31723249}" "" "5374_5378delAACAT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.87259003_87259007del" "" "VUS" "" "0001080642" "0" "50" "6" "87969925" "87969925" "subst" "0" "00006" "chr6_008363" "g.87969925A>C" "" "{PMID:Mirzaa 2020:31723249}" "" "" "" "De novo" "" "" "0" "" "" "g.87260207A>C" "" "VUS" "" "0001080643" "1" "50" "6" "87970008" "87970011" "del" "0" "00006" "chr6_008356" "g.87970008_87970011del" "" "{PMID:Mirzaa 2020:31723249}" "" "6661_6664delTTAG" "variant does not segregate with phenotype" "Germline" "" "" "0" "" "" "g.87260290_87260293del" "" "VUS" "" "0001080644" "0" "50" "6" "87970282" "87970282" "dup" "0" "00006" "chr6_008364" "g.87970282dup" "" "{PMID:Mirzaa 2020:31723249}" "" "6935dupA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.87260564dup" "" "VUS" "" "0001080645" "11" "50" "6" "87970651" "87970655" "del" "0" "00006" "chr6_008365" "g.87970651_87970655del" "" "{PMID:Mirzaa 2020:31723249}" "" "7304_7308delTAAAG" "variant inherited from putatively unaffected father" "Germline" "" "" "0" "" "" "g.87260933_87260937del" "" "VUS" "" "0001080646" "0" "50" "6" "87970409" "87970411" "del" "0" "00006" "chr6_008366" "g.87970409_87970411del" "" "{PMID:Mirzaa 2020:31723249}" "" "7062_7064delTAA" "" "De novo" "" "" "0" "" "" "g.87260691_87260693del" "" "VUS" "" "0001080648" "0" "70" "6" "87925717" "87925717" "subst" "0" "00006" "chr6_008335" "g.87925717C>T" "" "{PMID:De Rubeis 2014:25363760}" "" "" "" "De novo" "" "" "0" "" "" "g.87215999C>T" "" "likely pathogenic (dominant)" "" "0001080649" "0" "70" "6" "87966075" "87966075" "subst" "0" "00006" "chr6_008367" "g.87966075C>A" "" "{PMID:DDDS 2017:28135719}" "" "" "" "De novo" "" "" "0" "" "" "g.87256357C>A" "" "likely pathogenic (dominant)" "" "0001080650" "0" "70" "6" "87964419" "87964419" "subst" "4.06716E-6" "00006" "chr6_008368" "g.87964419C>T" "" "{PMID:DDDS 2017:28135719}" "" "" "" "De novo" "" "" "0" "" "" "g.87254701C>T" "" "likely pathogenic (dominant)" "" "0001080651" "0" "70" "6" "87965837" "87965841" "dup" "0" "00006" "chr6_008341" "g.87965837_87965841dup" "" "{PMID:Wang 2016:27824329}" "" "" "" "De novo" "" "" "0" "" "" "g.87256119_87256123dup" "" "likely pathogenic (dominant)" "" "0001080652" "0" "70" "6" "87967764" "87967764" "dup" "0" "00006" "chr6_008347" "g.87967764dup" "" "{PMID:Guo 2018:30564305}" "" "" "" "De novo" "" "" "0" "" "" "g.87258046dup" "" "likely pathogenic (dominant)" "" "0001080653" "0" "70" "6" "87968567" "87968570" "del" "0" "00006" "chr6_008369" "g.87968567_87968570del" "" "{PMID:DDDS 2017:28135719}" "" "" "" "De novo" "" "" "0" "" "" "g.87258849_87258852del" "" "likely pathogenic (dominant)" "" "0001080654" "0" "70" "6" "87969632" "87969632" "del" "0" "00006" "chr6_008370" "g.87969632del" "" "{PMID:Homsy 2015:26785492}" "" "" "" "De novo" "" "" "0" "" "" "g.87259914del" "" "likely pathogenic (dominant)" "" "0001084119" "0" "70" "6" "87969300" "87969300" "subst" "0" "03544" "ZNF292_000128" "g.87969300A>T" "" "" "" "" "" "Germline" "-" "" "0" "" "" "g.87259582A>T" "" "likely pathogenic" "ACMG" "0001084142" "0" "70" "6" "87966674" "87966674" "subst" "0" "03779" "chr6_008421" "g.87966674T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ZNF292 ## Count = 181 "{{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}}" "0000179039" "00023370" "90" "3066" "0" "3069" "0" "c.3066_3069del" "r.(?)" "p.(Glu1022Aspfs*3)" "" "0000313152" "00023370" "50" "4658" "0" "4658" "0" "c.4658C>T" "r.(?)" "p.(Thr1553Met)" "" "0000313153" "00023370" "50" "4933" "0" "4933" "0" "c.4933C>T" "r.(?)" "p.(Gln1645Ter)" "" "0000320235" "00023370" "10" "7303" "0" "7303" "0" "c.7303G>A" "r.(?)" "p.(Val2435Ile)" "" "0000344721" "00023370" "50" "8052" "0" "8052" "0" "c.8052A>C" "r.(?)" "p.(Gln2684His)" "" "0000407981" "00023370" "00" "2828" "0" "2829" "0" "c.2828_2829del" "r.(?)" "p.(Leu943Glnfs*5)" "" "0000529959" "00023370" "30" "711" "0" "711" "0" "c.711A>G" "r.(?)" "p.(Thr237=)" "" "0000529960" "00023370" "50" "2380" "0" "2380" "0" "c.2380del" "r.(?)" "p.(Tyr794IlefsTer64)" "" "0000529961" "00023370" "50" "2783" "0" "2785" "0" "c.2783_2785del" "r.(?)" "p.(Pro928del)" "" "0000529963" "00023370" "50" "3215" "0" "3215" "0" "c.3215C>T" "r.(?)" "p.(Ala1072Val)" "" "0000529964" "00023370" "50" "3400" "0" "3400" "0" "c.3400C>T" "r.(?)" "p.(Arg1134Cys)" "" "0000529966" "00023370" "30" "3426" "0" "3426" "0" "c.3426T>A" "r.(?)" "p.(Ala1142=)" "" "0000529967" "00023370" "30" "3524" "0" "3524" "0" "c.3524A>G" "r.(?)" "p.(Asn1175Ser)" "" "0000529968" "00023370" "30" "5823" "0" "5823" "0" "c.5823A>G" "r.(?)" "p.(Gln1941=)" "" "0000529969" "00023370" "30" "6064" "0" "6064" "0" "c.6064G>T" "r.(?)" "p.(Ala2022Ser)" "" "0000529970" "00023370" "50" "6809" "0" "6809" "0" "c.6809G>A" "r.(?)" "p.(Arg2270Gln)" "" "0000529971" "00023370" "50" "7537" "0" "7539" "0" "c.7537_7539del" "r.(?)" "p.(Asp2513del)" "" "0000610543" "00023370" "30" "871" "0" "871" "0" "c.871T>G" "r.(?)" "p.(Cys291Gly)" "" "0000610544" "00023370" "50" "3203" "0" "3203" "0" "c.3203T>G" "r.(?)" "p.(Leu1068Ter)" "" "0000610545" "00023370" "70" "3319" "0" "3319" "0" "c.3319C>T" "r.(?)" "p.(Arg1107Ter)" "" "0000610546" "00023370" "50" "3319" "0" "3319" "0" "c.3319C>T" "r.(?)" "p.(Arg1107Ter)" "" "0000647148" "00023370" "50" "8088" "0" "8088" "0" "c.8088del" "r.(?)" "p.(Lys2696Asnfs*14)" "" "0000655672" "00023370" "50" "2117" "0" "2117" "0" "c.2117A>T" "r.(?)" "p.(Lys706Ile)" "" "0000655673" "00023370" "70" "5946" "0" "5950" "0" "c.5946_5950del" "r.(?)" "p.(Leu1982PhefsTer2)" "" "0000677900" "00023370" "50" "7081" "0" "7081" "0" "c.7081C>T" "r.(?)" "p.(Arg2361Cys)" "" "0000689817" "00023370" "50" "2783" "0" "2785" "0" "c.2783_2785del" "r.(?)" "p.(Pro928del)" "" "0000689818" "00023370" "30" "4911" "0" "4911" "0" "c.4911A>G" "r.(?)" "p.(Pro1637=)" "" "0000689819" "00023370" "30" "5336" "0" "5336" "0" "c.5336G>A" "r.(?)" "p.(Gly1779Asp)" "" "0000708294" "00023370" "90" "4839" "0" "4840" "0" "c.4839_4840del" "r.(?)" "p.(Asn1614HisfsTer8)" "" "0000721130" "00023370" "50" "2960" "0" "2960" "0" "c.2960del" "r.(?)" "p.(Gln987ArgfsTer19)" "" "0000721131" "00023370" "50" "5330" "0" "5330" "0" "c.5330C>T" "r.(?)" "p.(Ser1777Phe)" "" "0000721132" "00023370" "50" "5914" "0" "5914" "0" "c.5914C>T" "r.(?)" "p.(His1972Tyr)" "" "0000721133" "00023370" "30" "5974" "0" "5974" "0" "c.5974T>C" "r.(?)" "p.(Ser1992Pro)" "" "0000721134" "00023370" "90" "6160" "0" "6161" "0" "c.6160_6161del" "r.(?)" "p.(Glu2054Lysfs*14)" "" "0000721135" "00023370" "50" "7870" "0" "7870" "0" "c.7870C>T" "r.(?)" "p.(His2624Tyr)" "" "0000802754" "00023370" "50" "2188" "0" "2188" "0" "c.2188C>T" "r.(?)" "p.(His730Tyr)" "" "0000802755" "00023370" "30" "2953" "0" "2953" "0" "c.2953G>C" "r.(?)" "p.(Gly985Arg)" "" "0000802756" "00023370" "70" "2989" "0" "2989" "0" "c.2989del" "r.(?)" "p.(Asp997Metfs*9)" "" "0000802757" "00023370" "30" "5433" "0" "5433" "0" "c.5433G>A" "r.(?)" "p.(Pro1811=)" "" "0000836769" "00023370" "70" "6160" "0" "6161" "0" "c.6160_6161del" "r.(?)" "p.(Glu2054Lysfs*14)" "" "0000860538" "00023370" "30" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Ser897Leu)" "" "0000887493" "00023370" "90" "1796" "0" "1797" "0" "c.1796_1797del" "r.(?)" "p.(Arg599Thrfs*21)" "" "0000887494" "00023370" "30" "4058" "0" "4058" "0" "c.4058G>A" "r.(?)" "p.(Gly1353Glu)" "" "0000887495" "00023370" "50" "7621" "0" "7622" "0" "c.7621_7622del" "r.(?)" "p.(Gln2541Lysfs*2)" "" "0000912596" "00023370" "70" "1558" "0" "1561" "0" "c.1558_1561del" "r.(?)" "p.(Glu520*)" "" "0000912597" "00023370" "90" "2834" "0" "2835" "0" "c.2834_2835del" "r.(?)" "p.(Gln945Argfs*3)" "" "0000912598" "00023370" "70" "6046" "0" "6046" "0" "c.6046A>T" "r.(?)" "p.(Lys2016*)" "" "0000912599" "00023370" "90" "6571" "0" "6571" "0" "c.6571C>T" "r.(?)" "p.(Gln2191*)" "" "0000924586" "00023370" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Gln283*)" "" "0000924587" "00023370" "50" "1226" "0" "1226" "0" "c.1226T>C" "r.(?)" "p.(Leu409Ser)" "" "0000924588" "00023370" "50" "1285" "0" "1285" "0" "c.1285C>T" "r.(?)" "p.(Arg429Cys)" "" "0000929250" "00023370" "30" "871" "0" "871" "0" "c.871T>G" "r.(?)" "p.(Cys291Gly)" "" "0000929251" "00023370" "50" "4183" "0" "4183" "0" "c.4183T>C" "r.(?)" "p.(Ser1395Pro)" "" "0000964297" "00023370" "30" "7268" "0" "7268" "0" "c.7268T>A" "r.(?)" "p.(Leu2423His)" "" "0000977391" "00023370" "30" "169" "-196" "169" "-196" "c.169-196C>A" "r.(=)" "p.(=)" "" "0000977392" "00023370" "30" "8135" "0" "8135" "0" "c.8135T>C" "r.(?)" "p.(Ile2712Thr)" "" "0000995945" "00023370" "30" "40" "0" "40" "0" "c.40G>A" "r.(?)" "p.(Gly14Ser)" "" "0000995946" "00023370" "30" "62" "0" "62" "0" "c.62A>G" "r.(?)" "p.(Glu21Gly)" "" "0000995947" "00023370" "30" "463" "0" "463" "0" "c.463G>A" "r.(?)" "p.(Ala155Thr)" "" "0000995948" "00023370" "50" "792" "0" "792" "0" "c.792A>T" "r.(?)" "p.(Glu264Asp)" "" "0000995949" "00023370" "50" "953" "0" "953" "0" "c.953G>A" "r.(?)" "p.(Arg318His)" "" "0000995950" "00023370" "50" "1330" "0" "1330" "0" "c.1330C>T" "r.(?)" "p.(Pro444Ser)" "" "0000995951" "00023370" "50" "1466" "0" "1466" "0" "c.1466G>C" "r.(?)" "p.(Ser489Thr)" "" "0000995952" "00023370" "70" "1760" "0" "1761" "0" "c.1760_1761del" "r.(?)" "p.(His587Argfs*6)" "" "0000995953" "00023370" "50" "2186" "0" "2186" "0" "c.2186G>A" "r.(?)" "p.(Arg729Gln)" "" "0000995954" "00023370" "30" "2213" "0" "2213" "0" "c.2213A>G" "r.(?)" "p.(Asn738Ser)" "" "0000995955" "00023370" "30" "2405" "0" "2405" "0" "c.2405A>G" "r.(?)" "p.(Gln802Arg)" "" "0000995956" "00023370" "30" "2494" "0" "2494" "0" "c.2494A>C" "r.(?)" "p.(Ser832Arg)" "" "0000995957" "00023370" "30" "2566" "0" "2566" "0" "c.2566G>C" "r.(?)" "p.(Glu856Gln)" "" "0000995958" "00023370" "50" "2728" "0" "2728" "0" "c.2728C>T" "r.(?)" "p.(Leu910Phe)" "" "0000995959" "00023370" "30" "2744" "0" "2744" "0" "c.2744G>A" "r.(?)" "p.(Gly915Glu)" "" "0000995960" "00023370" "50" "3086" "0" "3088" "0" "c.3086_3088del" "r.(?)" "p.(Met1029del)" "" "0000995961" "00023370" "30" "3176" "0" "3176" "0" "c.3176A>G" "r.(?)" "p.(Asn1059Ser)" "" "0000995962" "00023370" "30" "3227" "0" "3227" "0" "c.3227C>T" "r.(?)" "p.(Pro1076Leu)" "" "0000995963" "00023370" "50" "3401" "0" "3401" "0" "c.3401G>T" "r.(?)" "p.(Arg1134Leu)" "" "0000995964" "00023370" "30" "3418" "0" "3418" "0" "c.3418C>G" "r.(?)" "p.(Gln1140Glu)" "" "0000995965" "00023370" "30" "3524" "0" "3524" "0" "c.3524A>G" "r.(?)" "p.(Asn1175Ser)" "" "0000995966" "00023370" "30" "3542" "0" "3542" "0" "c.3542C>T" "r.(?)" "p.(Ser1181Leu)" "" "0000995967" "00023370" "30" "3609" "0" "3609" "0" "c.3609G>C" "r.(?)" "p.(Leu1203Phe)" "" "0000995968" "00023370" "30" "3635" "0" "3635" "0" "c.3635A>C" "r.(?)" "p.(Asn1212Thr)" "" "0000995969" "00023370" "70" "3664" "0" "3664" "0" "c.3664G>T" "r.(?)" "p.(Glu1222*)" "" "0000995970" "00023370" "30" "4001" "0" "4001" "0" "c.4001A>G" "r.(?)" "p.(Asn1334Ser)" "" "0000995971" "00023370" "30" "4040" "0" "4040" "0" "c.4040G>A" "r.(?)" "p.(Arg1347His)" "" "0000995972" "00023370" "50" "4066" "0" "4066" "0" "c.4066A>G" "r.(?)" "p.(Arg1356Gly)" "" "0000995973" "00023370" "50" "4637" "0" "4637" "0" "c.4637T>G" "r.(?)" "p.(Leu1546Trp)" "" "0000995974" "00023370" "30" "4769" "0" "4769" "0" "c.4769C>G" "r.(?)" "p.(Pro1590Arg)" "" "0000995975" "00023370" "30" "4778" "0" "4778" "0" "c.4778G>C" "r.(?)" "p.(Gly1593Ala)" "" "0000995976" "00023370" "30" "4849" "0" "4849" "0" "c.4849T>A" "r.(?)" "p.(Ser1617Thr)" "" "0000995977" "00023370" "30" "4972" "0" "4972" "0" "c.4972A>G" "r.(?)" "p.(Ile1658Val)" "" "0000995978" "00023370" "30" "4973" "0" "4973" "0" "c.4973T>C" "r.(?)" "p.(Ile1658Thr)" "" "0000995979" "00023370" "30" "5131" "0" "5131" "0" "c.5131G>C" "r.(?)" "p.(Glu1711Gln)" "" "0000995980" "00023370" "30" "6134" "0" "6134" "0" "c.6134T>C" "r.(?)" "p.(Val2045Ala)" "" "0000995981" "00023370" "30" "6275" "0" "6275" "0" "c.6275A>G" "r.(?)" "p.(Lys2092Arg)" "" "0000995982" "00023370" "30" "6494" "0" "6494" "0" "c.6494C>T" "r.(?)" "p.(Thr2165Ile)" "" "0000995983" "00023370" "30" "6925" "0" "6925" "0" "c.6925G>C" "r.(?)" "p.(Glu2309Gln)" "" "0000995984" "00023370" "30" "6947" "0" "6947" "0" "c.6947G>A" "r.(?)" "p.(Arg2316Gln)" "" "0000995985" "00023370" "30" "7270" "0" "7272" "0" "c.7270_7272del" "r.(?)" "p.(Leu2424del)" "" "0000995986" "00023370" "50" "7363" "0" "7364" "0" "c.7363_7364del" "r.(?)" "p.(Val2455Ilefs*5)" "" "0000995987" "00023370" "30" "7685" "0" "7685" "0" "c.7685G>A" "r.(?)" "p.(Arg2562His)" "" "0000995988" "00023370" "50" "8074" "0" "8074" "0" "c.8074G>A" "r.(?)" "p.(Val2692Ile)" "" "0000995989" "00023370" "30" "8144" "0" "8144" "0" "c.8144G>T" "r.(?)" "p.(Gly2715Val)" "" "0001014249" "00023370" "30" "515" "0" "515" "0" "c.515A>G" "r.(?)" "p.(Gln172Arg)" "" "0001023923" "00023370" "70" "1861" "0" "1862" "0" "c.1861_1862del" "r.(?)" "p.(Asn621SerfsTer4)" "" "0001025284" "00023370" "50" "6529" "0" "6529" "0" "c.6529A>G" "r.(?)" "p.(Ser2177Gly)" "" "0001029806" "00023370" "90" "3432" "0" "3436" "0" "c.3432_3436del" "r.(?)" "p.(Asn1144Lysfs*5)" "8" "0001030870" "00023370" "70" "4085" "0" "4085" "0" "c.4085A>G" "r.(?)" "p.(Lys1362Arg)" "" "0001030876" "00023370" "70" "4085" "0" "4085" "0" "c.4085A>G" "r.(?)" "p.(Lys1362Arg)" "" "0001035953" "00023370" "30" "978" "0" "978" "0" "c.978A>G" "r.(?)" "p.(=)" "" "0001035954" "00023370" "30" "1021" "-426" "1021" "-426" "c.1021-426A>T" "r.(=)" "p.(=)" "" "0001035955" "00023370" "50" "3735" "0" "3735" "0" "c.3735T>G" "r.(?)" "p.(Asp1245Glu)" "" "0001035956" "00023370" "50" "5389" "0" "5389" "0" "c.5389T>A" "r.(?)" "p.(Ser1797Thr)" "" "0001035957" "00023370" "30" "6064" "0" "6064" "0" "c.6064G>T" "r.(?)" "p.(Ala2022Ser)" "" "0001047364" "00023370" "70" "4098" "0" "4098" "0" "c.4098G>A" "r.(?)" "p.(Trp1366*)" "8" "0001052432" "00023370" "50" "1384" "0" "1384" "0" "c.1384G>A" "r.(?)" "p.(Glu462Lys)" "" "0001052433" "00023370" "50" "2068" "0" "2068" "0" "c.2068A>C" "r.(?)" "p.(Lys690Gln)" "" "0001052434" "00023370" "50" "5566" "0" "5566" "0" "c.5566C>T" "r.(?)" "p.(Pro1856Ser)" "" "0001052435" "00023370" "30" "5615" "0" "5615" "0" "c.5615C>A" "r.(?)" "p.(Thr1872Lys)" "" "0001052436" "00023370" "50" "5893" "0" "5893" "0" "c.5893C>T" "r.(?)" "p.(Arg1965Trp)" "" "0001052437" "00023370" "30" "6904" "0" "6904" "0" "c.6904A>G" "r.(?)" "p.(Met2302Val)" "" "0001052438" "00023370" "50" "6911" "0" "6911" "0" "c.6911G>A" "r.(?)" "p.(Ser2304Asn)" "" "0001062560" "00023370" "50" "2325" "0" "2325" "0" "c.2325del" "r.(?)" "p.(Val776Serfs*82)" "9" "0001064586" "00023370" "30" "776" "0" "776" "0" "c.776T>C" "r.(?)" "p.(Met259Thr)" "" "0001064587" "00023370" "50" "2023" "0" "2023" "0" "c.2023C>A" "r.(?)" "p.(Pro675Thr)" "" "0001064588" "00023370" "50" "4128" "0" "4128" "0" "c.4128C>G" "r.(?)" "p.(Ile1376Met)" "" "0001064589" "00023370" "30" "4381" "0" "4381" "0" "c.4381C>T" "r.(?)" "p.(Arg1461Cys)" "" "0001064590" "00023370" "30" "7004" "0" "7004" "0" "c.7004G>A" "r.(?)" "p.(Arg2335Gln)" "" "0001068943" "00023370" "50" "19" "0" "19" "0" "c.19G>T" "r.(?)" "p.(Glu7Ter)" "" "0001070838" "00023370" "90" "6160" "0" "6161" "0" "c.6160_6161del" "r.(?)" "p.(Glu2054LysfsTer14)" "" "0001075685" "00023370" "90" "6280" "0" "6280" "0" "c.6280C>T" "r.(?)" "p.(Arg2094Ter)" "" "0001075686" "00023370" "70" "6280" "0" "6280" "0" "c.6280C>T" "r.(?)" "p.(Arg2094Ter)" "" "0001080495" "00023370" "70" "1533" "0" "1533" "0" "c.1533del" "r.(?)" "p.(Ile511Metfs*11)" "8" "0001080496" "00023370" "70" "3094" "0" "3094" "0" "c.3094dup" "r.(?)" "p.(Ser1032Phefs*18)" "8" "0001080497" "00023370" "70" "3997" "0" "3998" "0" "c.3997_3998del" "r.(?)" "p.(Thr1333GlnfsTer8)" "8" "0001080608" "00023370" "90" "265" "0" "265" "0" "c.265C>T" "r.(?)" "p.(Arg89Ter)" "2" "0001080609" "00023370" "90" "433" "0" "433" "0" "c.433del" "r.(?)" "p.(Ser145AlafsTer7)" "8" "0001080610" "00023370" "90" "1160" "0" "1160" "0" "c.1160del" "r.(?)" "p.(Arg387LeufsTer5)" "8" "0001080611" "00023370" "90" "1360" "0" "1360" "0" "c.1360C>T" "r.1360C>T" "p.Arg454Ter" "8" "0001080612" "00023370" "90" "1567" "0" "1567" "0" "c.1567C>T" "r.(?)" "p.(Gln523Ter)" "8" "0001080613" "00023370" "90" "2170" "0" "2170" "0" "c.2170del" "r.(?)" "p.(Cys724AlafsTer9)" "8" "0001080614" "00023370" "90" "2490" "0" "2494" "0" "c.2490_2494dup" "r.(?)" "p.(Ser832IlefsTer28)" "8" "0001080615" "00023370" "90" "2814" "0" "2821" "0" "c.2814_2821dup" "r.(?)" "p.(Val941AlafsTer68)" "8" "0001080616" "00023370" "90" "3066" "0" "3069" "0" "c.3066_3069del" "r.3066_3069del" "p.Glu1022AspfsTer3" "8" "0001080617" "00023370" "90" "3066" "0" "3069" "0" "c.3066_3069del" "r.(?)" "p.(Glu1022AspfsTer3)" "8" "0001080618" "00023370" "90" "3460" "0" "3463" "0" "c.3460_3463del" "r.(?)" "p.(Val1154IlefsTer7)" "8" "0001080619" "00023370" "90" "3709" "0" "3709" "0" "c.3709dup" "r.(?)" "p.(Thr1237AsnfsTer20)" "8" "0001080620" "00023370" "90" "3724" "0" "3724" "0" "c.3724del" "r.(?)" "p.(Gln1242LysfsTer5)" "8" "0001080621" "00023370" "90" "3812" "0" "3812" "0" "c.3812C>A" "r.(?)" "p.(Ser1271Ter)" "8" "0001080622" "00023370" "90" "4417" "0" "4417" "0" "c.4417dup" "r.(?)" "p.(Ser1473PhefsTer5)" "8" "0001080623" "00023370" "90" "4897" "0" "4897" "0" "c.4897A>T" "r.(?)" "p.(Lys1633Ter)" "8" "0001080624" "00023370" "90" "5185" "0" "5185" "0" "c.5185C>T" "r.(?)" "p.(Gln1729Ter)" "8" "0001080625" "00023370" "90" "5515" "0" "5569" "0" "c.5515_5569del" "r.(?)" "p.(Glu1839HisfsTer6)" "8" "0001080626" "00023370" "90" "5959" "0" "5965" "0" "c.5959_5965dup" "r.(?)" "p.(Gly1989AlafsTer9)" "8" "0001080627" "00023370" "90" "6142" "0" "6145" "0" "c.6142_6145del" "r.(?)" "p.(Lys2048ValfsTer11)" "8" "0001080628" "00023370" "90" "6160" "0" "6161" "0" "c.6160_6161del" "r.(?)" "p.(Glu2054LysfsTer14)" "8" "0001080629" "00023370" "90" "6160" "0" "6161" "0" "c.6160_6161del" "r.(?)" "p.(Glu2054LysfsTer14)" "8" "0001080630" "00023370" "90" "6160" "0" "6161" "0" "c.6160_6161del" "r.(?)" "p.(Glu2054LysfsTer14)" "8" "0001080631" "00023370" "90" "6160" "0" "6161" "0" "c.6160_6161del" "r.(?)" "p.(Glu2054LysfsTer14)" "8" "0001080632" "00023370" "90" "6279" "0" "6279" "0" "c.6279dup" "r.(?)" "p.(Arg2094ThrfsTer10)" "8" "0001080633" "00023370" "90" "6343" "0" "6343" "0" "c.6343C>T" "r.(?)" "p.(Arg2115Ter)" "8" "0001080634" "00023370" "90" "6541" "0" "6541" "0" "c.6541C>T" "r.(?)" "p.(Arg2181Ter)" "8" "0001080635" "00023370" "90" "6661" "0" "6664" "0" "c.6661_6664del" "r.(?)" "p.(Leu2221SerfsTer10)" "8" "0001080636" "00023370" "50" "1408" "0" "1408" "0" "c.1408A>G" "r.(?)" "p.(Ile470Val)" "8" "0001080637" "00023370" "50" "1858" "0" "1858" "0" "c.1858G>T" "r.(?)" "p.(Glu620Ter)" "8" "0001080638" "00023370" "50" "1897" "0" "1897" "0" "c.1897C>T" "r.(?)" "p.(Arg633Ter)" "8" "0001080639" "00023370" "50" "1910" "0" "1910" "0" "c.1910delA" "r.(?)" "p.(Lys637ArgfsTer10)" "8" "0001080640" "00023370" "50" "3053" "0" "3053" "0" "c.3053dup" "r.(?)" "p.(Gln1019ThrfsTer31)" "8" "0001080641" "00023370" "50" "5374" "0" "5378" "0" "c.5374_5378del" "r.(?)" "p.(Asn1792SerfsTer11)" "8" "0001080642" "00023370" "50" "6578" "0" "6578" "0" "c.6578A>C" "r.(?)" "p.(Tyr2193Ser)" "8" "0001080643" "00023370" "50" "6661" "0" "6664" "0" "c.6661_6664del" "r.(?)" "p.(Leu2221SerfsTer10)" "8" "0001080644" "00023370" "50" "6935" "0" "6935" "0" "c.6935dup" "r.(?)" "p.(Ser2313ValfsTer2)" "8" "0001080645" "00023370" "50" "7304" "0" "7308" "0" "c.7304_7308del" "r.(?)" "p.(Val2435GlyfsTer4)" "8" "0001080646" "00023370" "50" "7062" "0" "7064" "0" "c.7062_7064del" "r.(?)" "p.(Asn2354del)" "8" "0001080648" "00023370" "70" "265" "0" "265" "0" "c.265C>T" "r.(?)" "p.(Arg89Ter)" "" "0001080649" "00023370" "70" "2728" "0" "2728" "0" "c.2728C>A" "r.(?)" "p.(Leu910Ile)" "" "0001080650" "00023370" "70" "1072" "0" "1072" "0" "c.1072C>T" "r.(?)" "p.(Arg358Cys)" "" "0001080651" "00023370" "70" "2490" "0" "2494" "0" "c.2490_2494dup" "r.(?)" "p.(Ser832IlefsTer28)" "" "0001080652" "00023370" "70" "4417" "0" "4417" "0" "c.4417dup" "r.(?)" "p.(Ser1473PhefsTer5)" "" "0001080653" "00023370" "70" "5220" "0" "5223" "0" "c.5220_5223del" "r.(?)" "p.(Asn1741LeufsTer25)" "" "0001080654" "00023370" "70" "6285" "0" "6285" "0" "c.6285del" "r.(?)" "p.(Lys2096SerfsTer36)" "" "0001084119" "00023370" "70" "5953" "0" "5953" "0" "c.5953A>T" "r.(?)" "p.(Lys1985Ter)" "8" "0001084142" "00023370" "70" "3327" "0" "3327" "0" "c.3327T>A" "r.(?)" "p.(Tyr1109Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 59 "{{screeningid}}" "{{variantid}}" "0000111882" "0000179039" "0000184010" "0000407981" "0000290476" "0000647148" "0000402540" "0000836769" "0000465993" "0001029806" "0000466872" "0001030870" "0000466873" "0001030876" "0000467945" "0001047364" "0000473687" "0001062560" "0000483100" "0001080495" "0000483101" "0001080496" "0000483102" "0001080497" "0000483174" "0001080608" "0000483175" "0001080609" "0000483176" "0001080610" "0000483177" "0001080611" "0000483178" "0001080612" "0000483179" "0001080613" "0000483180" "0001080614" "0000483181" "0001080615" "0000483182" "0001080616" "0000483183" "0001080617" "0000483184" "0001080618" "0000483185" "0001080619" "0000483186" "0001080620" "0000483187" "0001080621" "0000483188" "0001080622" "0000483189" "0001080623" "0000483190" "0001080624" "0000483191" "0001080625" "0000483192" "0001080626" "0000483193" "0001080627" "0000483194" "0001080628" "0000483195" "0001080629" "0000483196" "0001080630" "0000483197" "0001080631" "0000483198" "0001080632" "0000483199" "0001080633" "0000483200" "0001080634" "0000483201" "0001080635" "0000483202" "0001080636" "0000483203" "0001080637" "0000483204" "0001080638" "0000483205" "0001080639" "0000483206" "0001080640" "0000483207" "0001080641" "0000483208" "0001080642" "0000483209" "0001080643" "0000483210" "0001080644" "0000483211" "0001080645" "0000483212" "0001080646" "0000483214" "0001080648" "0000483215" "0001080649" "0000483216" "0001080650" "0000483217" "0001080651" "0000483218" "0001080652" "0000483219" "0001080653" "0000483220" "0001080654" "0000485951" "0001084119"