### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SUZ12) # 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}}" "SUZ12" "suppressor of zeste 12 homolog (Drosophila)" "17" "q21" "unknown" "NG_009237.1" "UD_132085367003" "" "http://www.LOVD.nl/SUZ12" "" "1" "17101" "23512" "606245" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/SUZ12_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-10-26 16:15:28" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00020595" "SUZ12" "suppressor of zeste 12 homolog (Drosophila)" "001" "NM_015355.2" "" "NP_056170.2" "" "" "" "-222" "4255" "2220" "30264044" "30328057" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05718" "IMMAS" "Imagawa-Matsumoto syndrome (IMMAS)" "AD" "618786" "" "" "" "00006" "2020-04-06 13:51:34" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SUZ12" "05718" ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{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}}" "00081830" "" "" "" "1" "" "01794" "" "" "F" "no" "Japan" "" "0" "" "" "Japanese" "" "00296446" "" "" "" "1" "" "00006" "{PMID:Choufani 2020:32243864}" "" "M" "" "" "" "0" "" "" "" "EX0209" "00296447" "" "" "" "2" "" "00006" "{PMID:Imagawa 2017:28229514}" "2-generation family, affected father/daughter, unaffected heterozygous carrier parents" "F" "" "Japan" "" "0" "" "" "" "Pat3/EX0066" "00296448" "" "" "00296447" "1" "" "00006" "{PMID:Imagawa 2017:28229514}" "father Pat3/EX0066" "M" "" "Japan" "" "0" "" "" "" "Pat4/EX0067" "00296449" "" "" "" "2" "" "00006" "{PMID:Cyrus 2019:31736240}" "2-generation family, affected father/son" "M" "" "Finland" "" "0" "" "" "" "Pat1/A1765" "00296450" "" "" "" "1" "" "00006" "{PMID:Choufani 2020:32243864}" "" "M" "" "" "" "0" "" "" "" "M/R728468(2)" "00296451" "" "" "" "1" "" "00006" "{PMID:Cyrus 2019:31736240}" "" "M" "" "China" "" "0" "" "" "" "Pat3/HK5502" "00296452" "" "" "" "1" "" "00006" "{PMID:Cyrus 2019:31736240}" "" "F" "" "Portugal" "" "0" "" "" "" "Pat4/A1494-R" "00296455" "" "" "" "1" "" "00006" "{PMID:Imagawa 2018:30019515}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Brazil" "" "0" "" "" "" "Fam1PatII3" "00296456" "" "" "" "1" "" "00006" "{PMID:Imagawa 2018:30019515}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "France" "" "0" "" "" "" "Fam2PatII1" "00296458" "" "" "" "1" "" "00006" "{PMID:Cyrus 2019:31736240}" "" "M" "" "Finland" "" "0" "" "" "" "Pat2" "00296459" "" "" "" "1" "" "00006" "{PMID:Cyrus 2019:31736240}" "" "M" "" "Canada" "" "0" "" "" "China" "Pat5" "00296460" "" "" "" "1" "" "00006" "{PMID:Cyrus 2019:31736240}" "" "M" "" "United States" "" "0" "" "" "" "Pat6" "00296461" "" "" "" "1" "" "00006" "{PMID:Cyrus 2019:31736240}" "" "F" "" "United States" "" "0" "" "" "" "Pat7" "00296462" "" "" "" "1" "" "00006" "{PMID:Cyrus 2019:31736240}" "" "M" "" "United States" "" "0" "" "" "" "Pat8" "00296463" "" "" "" "1" "" "00006" "{PMID:Cyrus 2019:31736240}" "" "M" "" "United States" "" "0" "" "" "" "Pat9" "00296464" "" "" "" "1" "" "00006" "{PMID:Cyrus 2019:31736240}" "" "F" "" "United States" "" "0" "" "" "" "Pat10" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00296446" "00198" "00296447" "00198" "00296448" "00198" "00296449" "00198" "00296450" "00198" "00296451" "00198" "00296452" "00198" "00296455" "00198" "00296456" "00198" "00296458" "00198" "00296459" "00198" "00296460" "00198" "00296461" "00198" "00296462" "00198" "00296463" "00198" "00296464" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05718 ## Count = 16 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000223858" "00198" "00296446" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223859" "00198" "00296447" "00006" "Familial, autosomal dominant" "11y" "see paper; ..., overgrowth; macrocephaly, plagiocephaly (flat occiput); prominent forehead or increased bifrontal diameter; no prominent supraorbital ridges; round face; hypertelorism; no downslanting palpebral fissures; no low or broad nasal bridge; developmental delay; moderate intellectual disability (DQ48); normal corpus callosum; brain third ventricle enlargede ; hypotonia; advanced bone age (3y5m at 18m); mild scoliosis <20degrees; large hands; large feet; finger camptodactyly or clinodactyly; flexion disorders of fingers, knee joints contracture (mild), short second and fourth toes (bilateral), broad metaphyses, atrophy of gastrocnemius muscles; no excessive loose skin; no pigmented nevi; Plantar skin defects, ingrown nails of halluces; umbilical hernias" "" "" "" "" "" "" "" "" "IMMAS" "Weaver syndrome" "" "0000223860" "00198" "00296448" "00006" "Unknown" "41y" "see paper; ..." "" "" "" "" "" "" "" "" "IMMAS" "Weaver syndrome" "" "0000223861" "00198" "00296449" "00006" "Familial, autosomal dominant" "03y" "see paper; ..., overgrowth; macrocephaly; prominent forehead or increased bifrontal diameter; no prominent supraorbital ridges; round face; hypertelorism; no downslanting palpebral fissures; flame‐like eyes; low or broad nasal bridge; no prominent chin/jaw; developmental delay; thin corpus callosum; hypotonia; no thoracic/chest abnormalities; no scoliosis; large hands; large feet; no finger camptodactyly or clinodactyly; toe camptodactyly or clinodactyly; Flat feet; excessive loose skin; no hypertrichosis; no pigmented nevi; Small toenails; no CVS abnormalities; Frequent infections; no umbilical hernias; cryptorchidism; Chorda penis" "" "" "" "" "" "" "" "" "IMMAS" "Weaver syndrome" "" "0000223862" "00198" "00296450" "00006" "Unknown" "18y" "" "" "" "" "" "" "" "" "" "" "" "" "0000223863" "00198" "00296451" "00006" "Isolated (sporadic)" "18y" "see paper; ..., overgrowth; macrocephaly, mild plagiocephaly; no prominent forehead or increased bifrontal diameter; no prominent supraorbital ridges; no round face; hypertelorism; no downslanting palpebral fissures; low or broad nasal bridge; no prominent chin/jaw; no developmental delay; no intellectual disability; normal corpus callosum; advanced bone age; no thoracic/chest abnormalities; no scoliosis; large hands; large feet (46 at 18y); no finger camptodactyly or clinodactyly; no toe camptodactyly or clinodactyly; no excessive loose skin; no hypertrichosis; no pigmented nevi; no CVS abnormalities; no respiratory abnormalities; no umbilical hernias; no cryptorchidism" "" "" "" "" "" "" "" "" "IMMAS" "Weaver syndrome" "" "0000223864" "00198" "00296452" "00006" "Isolated (sporadic)" "09y" "see paper; ..., mild overgrowth; no macrocephaly; prominent forehead or increased bifrontal diameter; no prominent supraorbital ridges; round face, triangular face; hypertelorism, telecanthus; downslanting palpebral fissures; low or broad nasal bridge; prominent chin crease; developmental delay; mild intellectual disability (IQ56); hypotonia; advanced bone age (5y9m at 4y); no thoracic/chest abnormalities; no scoliosis; large hands; large feet; finger camptodactyly or clinodactyly; toe camptodactyly or clinodactyly; no excessive loose skin; no hypertrichosis back and limbs; no pigmented nevi; no respiratory abnormalities; umbilical hernias" "" "" "" "" "" "" "" "" "IMMAS" "Weaver syndrome" "" "0000223867" "00198" "00296455" "00006" "Isolated (sporadic)" "19y" "see paper; ..., overgrowth; macrocephaly; prominent forehead or increased bifrontal diameter; no prominent supraorbital ridges; round face; hypertelorism; downslanting palpebral fissures; no low or broad nasal bridge; developmental delay; no intellectual disability; no hypotonia; advanced bone age(14y at 13y); toe camptodactyly or clinodactyly; cubitus valgus,; no excessive loose skin; pigmented nevi; pigmented nevi" "" "" "" "" "" "" "" "" "IMMAS" "Weaver syndrome" "" "0000223868" "00198" "00296456" "00006" "Isolated (sporadic)" "09y04m" "see paper; ..., overgrowth; no macrocephaly; prominent forehead or increased bifrontal diameter; no prominent supraorbital ridges; round face; no hypertelorism; no downslanting palpebral fissures; no low or broad nasal bridge; no developmental delay; no intellectual disability; no hypotonia; toe camptodactyly or clinodactyly; Bilateral short fifth toes; hypertrichosis; no pigmented nevi; Nail hypoplasia of fifth toes; umbilical hernias" "" "" "" "" "" "" "" "" "IMMAS" "Weaver syndrome" "" "0000223870" "00198" "00296458" "00006" "Familial, autosomal dominant" "27y" "see paper; ..., overgrowth; macrocephaly , brachycephaly; prominent forehead or increased bifrontal diameter (in childhood); prominent supraorbital ridges; round face; hypertelorism; downslanting palpebral fissures; everted lower eyelid; low or broad nasal bridge; prominent chin/jaw; no developmental delay; no intellectual disability; advanced bone age; pectus excavatum; no scoliosis; large hands; large feet; no finger camptodactyly or clinodactyly; toe camptodactyly or clinodactyly; no excessive loose skin; no hypertrichosis; no pigmented nevi; no CVS abnormalities; no respiratory abnormalities; no umbilical hernias; cryptorchidism;" "" "" "" "" "" "" "" "" "IMMAS" "Weaver syndrome" "" "0000223871" "00198" "00296459" "00006" "Isolated (sporadic)" "7y7m" "see paper; ..., overgrowth; m ild plagiocephaly, bitemporal narrowing; no prominent forehead or increased bifrontal diameter; prominent supraorbital ridges; round face; hypertelorism; no downslanting palpebral fissures; long palpebral fissures; low or broad nasal bridge; no prominent chin/jaw; developmental delay; mild intellectual disability, autism; hypoplastic corpus callosum; brain third ventricle enlarged with high roof; hypotonia; no advanced bone age; mild pectus excavatum superiorly/carinatum inferiorly, with “barrel‐shaped” and asymmetrical chest; no scoliosis; finger camptodactyly or clinodactyly; no toe camptodactyly or clinodactyly; narrow and “rounded” shoulders; short clavicles; scapular winging; decreased muscle bulk, mildly hypermobile joints prominent digit pads on toes; no hypertrichosis (as toddler); pigmented nevi; Fine and sparse scalp hair, neonatal eczema; PDA, PFO; Aspiration of thin liquids, pneumonia; no cryptorchidism; Phimosis" "" "" "" "" "" "" "" "" "IMMAS" "Weaver syndrome" "" "0000223872" "00198" "00296460" "00006" "Isolated (sporadic)" "8y4m" "see paper; ..., mild overgrowth; relative macrocephaly; no prominent forehead or increased bifrontal diameter; no prominent supraorbital ridges; round face; hypertelorism; downslanting palpebral fissures; epicanthal folds; low or broad nasal bridge; no prominent chin/jaw; developmental delay; mild intellectual disability (IQ66); normal corpus callosum; polymicrogyria; hypotonia; narrowed nipples, bilateral rib flaring; no finger camptodactyly or clinodactyly; toe camptodactyly or clinodactyly; Bilateral foot pronation, pes planus, mild hypermobility of joints; no hypertrichosis; no pigmented nevi; Atypically soft skin; no CVS abnormalities; Frequent infections; no umbilical hernias; no cryptorchidism;" "" "" "" "" "" "" "" "" "IMMAS" "Weaver syndrome" "" "0000223873" "00198" "00296461" "00006" "Unknown" "11y" "see paper; ..., no overgrowth; no macrocephaly, bitemporal narrowing; no prominent forehead or increased bifrontal diameter; prominent supraorbital ridges; round face; hypertelorism; no downslanting palpebral fissures; low or broad nasal bridge; prominent chin/jaw; developmental delay; borderline intellectual disability (IQ74); no thoracic/chest abnormalities; no scoliosis; no large hands; no large feet; no finger camptodactyly or clinodactyly; no toe camptodactyly or clinodactyly; Bilateral short fifth fingers; no excessive loose skin; no hypertrichosis; no pigmented nevi; no respiratory abnormalities; no umbilical hernias; Anteriorly placed anus" "" "" "" "" "" "" "" "" "IMMAS" "Weaver syndrome" "" "0000223874" "00198" "00296462" "00006" "Isolated (sporadic)" "15y5m" "see paper; ..., overgrowth; macrocephaly; no prominent forehead or increased bifrontal diameter; prominent supraorbital ridges, enlarged frontal sinuses; no round face; mild hypertelorism; downslanting palpebral fissures; no low or broad nasal bridge; no prominent chin/jaw; developmental delay; learning disabilities (IQ100); complete agenesis corpus callosum; no hypotonia; no advanced bone age; no thoracic/chest abnormalities; no scoliosis; large hands; large feet; finger camptodactyly or clinodactyly; no toe camptodactyly or clinodactyly; no excessive loose skin; no hypertrichosis; no pigmented nevi; no CVS abnormalities; no respiratory abnormalities; no umbilical hernias; cryptorchidism; Disjoined epididymides" "" "" "" "" "" "" "" "" "IMMAS" "Weaver syndrome" "" "0000223875" "00198" "00296463" "00006" "Familial, autosomal dominant" "19y4m" "see paper; ..., overgrowth; macrocephaly, brachycephaly; prominent forehead or increased bifrontal diameter; prominent supraorbital ridges; no round face; no hypertelorism; downslanting palpebral fissures; low or broad nasal bridge; no prominent chin/jaw; developmental delay; mild intellectual disability, autism; normal corpus callosum; no hypotonia; advanced bone age (15y at 12y5m); no thoracic/chest abnormalities; no scoliosis; large hands; large feet; no finger camptodactyly or clinodactyly; no toe camptodactyly or clinodactyly; Bilateral short fourth fingers; no excessive loose skin; no hypertrichosis; no pigmented nevi; no respiratory abnormalities; no umbilical hernias; cryptorchidism;" "" "" "" "" "" "" "" "" "IMMAS" "Weaver syndrome" "" "0000223876" "00198" "00296464" "00006" "Unknown" "11y3m" "see paper; ..., no overgrowth; no macrocephaly; no prominent forehead or increased bifrontal diameter; no prominent supraorbital ridges; no round face; no hypertelorism; no downslanting palpebral fissures; esotropia/exotropia; low or broad nasal bridge; developmental delay; severe‐profound intellectual disability; normal corpus callosum; periventricular leucomalacia; hypotonia; no thoracic/chest abnormalities; no scoliosis; no large hands; no large feet; no finger camptodactyly or clinodactyly; no toe camptodactyly or clinodactyly; Pes planus, bilateral coxa valga deformity; no excessive loose skin; no hypertrichosis; no pigmented nevi; Mild persistent ashma; umbilical hernias;" "" "" "" "" "" "" "" "" "IMMAS" "Weaver syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081963" "00081830" "1" "01794" "01794" "2016-10-26 07:54:10" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "" "0000297556" "00296446" "1" "00006" "00006" "2020-04-06 14:06:31" "" "" "SEQ" "DNA" "" "" "0000297557" "00296447" "1" "00006" "00006" "2020-04-06 14:06:31" "" "" "SEQ" "DNA" "" "" "0000297558" "00296448" "1" "00006" "00006" "2020-04-06 14:06:31" "" "" "SEQ" "DNA" "" "" "0000297559" "00296449" "1" "00006" "00006" "2020-04-06 14:06:31" "" "" "SEQ" "DNA" "" "" "0000297560" "00296450" "1" "00006" "00006" "2020-04-06 14:06:31" "" "" "SEQ" "DNA" "" "" "0000297561" "00296451" "1" "00006" "00006" "2020-04-06 14:06:31" "" "" "SEQ" "DNA" "" "" "0000297562" "00296452" "1" "00006" "00006" "2020-04-06 14:06:31" "" "" "SEQ" "DNA" "" "" "0000297565" "00296455" "1" "00006" "00006" "2020-04-06 16:03:39" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000297566" "00296456" "1" "00006" "00006" "2020-04-06 16:06:00" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000297568" "00296458" "1" "00006" "00006" "2020-04-06 17:11:58" "" "" "SEQ" "DNA" "" "WES" "0000297569" "00296459" "1" "00006" "00006" "2020-04-06 17:11:58" "" "" "SEQ" "DNA" "" "trio‐WGS" "0000297570" "00296460" "1" "00006" "00006" "2020-04-06 17:11:58" "" "" "SEQ" "DNA" "" "gene panel" "0000297571" "00296461" "1" "00006" "00006" "2020-04-06 17:11:58" "" "" "SEQ" "DNA" "" "gene panel" "0000297572" "00296462" "1" "00006" "00006" "2020-04-06 17:11:58" "" "" "SEQ" "DNA" "" "WES" "0000297573" "00296463" "1" "00006" "00006" "2020-04-06 17:11:58" "" "" "SEQ" "DNA" "" "WES" "0000297574" "00296464" "1" "00006" "00006" "2020-04-06 17:11:58" "" "" "SEQ" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{geneid}}" "0000297556" "SUZ12" "0000297557" "SUZ12" "0000297558" "SUZ12" "0000297559" "SUZ12" "0000297560" "SUZ12" "0000297561" "SUZ12" "0000297562" "SUZ12" "0000297565" "SUZ12" "0000297566" "SUZ12" "0000297568" "SUZ12" "0000297569" "SUZ12" "0000297570" "SUZ12" "0000297571" "SUZ12" "0000297572" "SUZ12" "0000297573" "SUZ12" "0000297574" "SUZ12" ## 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 = 43 "{{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}}" "0000134735" "11" "70" "17" "30323851" "30323851" "subst" "0" "01794" "SUZ12_000001" "g.30323851A>T" "" "" "" "" "germline mosaicism in father" "Germline" "" "" "0" "" "" "g.31996832A>T" "" "likely pathogenic" "" "0000315937" "0" "50" "17" "30323860" "30323861" "del" "0" "01943" "SUZ12_000002" "g.30323860_30323861del" "" "" "" "SUZ12(NM_015355.3):c.1838_1839delTG (p.V613Dfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31996841_31996842del" "" "VUS" "" "0000561004" "0" "30" "17" "30293164" "30293164" "subst" "0" "01804" "SUZ12_000003" "g.30293164A>T" "" "" "" "SUZ12(NM_015355.2):c.456-2A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31966145A>T" "" "likely benign" "" "0000561005" "0" "30" "17" "30293165" "30293165" "subst" "0" "01804" "SUZ12_000004" "g.30293165G>T" "" "" "" "SUZ12(NM_015355.2):c.456-1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31966146G>T" "" "likely benign" "" "0000561006" "0" "30" "17" "30293166" "30293166" "subst" "0" "01804" "SUZ12_000005" "g.30293166C>T" "" "" "" "SUZ12(NM_015355.2):c.456C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31966147C>T" "" "likely benign" "" "0000561007" "0" "30" "17" "30293169" "30293169" "subst" "0" "01804" "SUZ12_000006" "g.30293169G>T" "" "" "" "SUZ12(NM_015355.2):c.459G>T (p.(Leu153Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31966150G>T" "" "likely benign" "" "0000561008" "0" "50" "17" "30325838" "30325838" "subst" "0.000260841" "01943" "SUZ12_000007" "g.30325838C>T" "" "" "" "SUZ12(NM_015355.3):c.2036C>T (p.T679I), SUZ12(NM_015355.4):c.2036C>T (p.T679I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31998819C>T" "" "VUS" "" "0000561009" "0" "30" "17" "30325979" "30325979" "subst" "0.0011641" "01804" "SUZ12_000008" "g.30325979G>A" "" "" "" "SUZ12(NM_015355.2):c.2177G>A (p.(Ser726Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31998960G>A" "" "likely benign" "" "0000561010" "0" "50" "17" "30325990" "30325990" "dup" "0" "01943" "SUZ12_000009" "g.30325990dup" "" "" "" "SUZ12(NM_015355.3):c.2188dupG (p.V730Gfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31998971dup" "" "VUS" "" "0000616455" "0" "30" "17" "30264547" "30264547" "subst" "0.0152484" "01804" "SUZ12_000010" "g.30264547T>C" "" "" "" "SUZ12(NM_001321207.1):c.274+8T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31937528T>C" "" "likely benign" "" "0000660158" "0" "90" "17" "28997866" "30391813" "dup" "0" "00006" "SUZ12_000015" "g.(?_28997866)_(30391813_?)dup" "" "{PMID:Choufani 2020:32243864}" "" "17q11.2dup" "" "Germline/De novo (untested)" "" "" "0" "no EZH2 methylation signature" "" "" "" "pathogenic (dominant)" "" "0000660159" "11" "90" "17" "30323851" "30323851" "subst" "0" "00006" "SUZ12_000001" "g.30323851A>T" "" "{PMID:Imagawa 2017:28229514}, {PMID:Choufani 2020:32243864}" "" "" "" "Germline" "" "" "0" "EZH2 methylation signature" "" "g.31996832A>T" "" "pathogenic (dominant)" "" "0000660160" "0" "90" "17" "30323851" "30323851" "subst" "0" "00006" "SUZ12_000001" "g.30323851A>T" "" "{PMID:Imagawa 2017:28229514}, {PMID:Choufani 2020:32243864}" "" "" "mosaic" "Germline/De novo (untested)" "" "" "0" "no EZH2 methylation signature" "" "g.31996832A>T" "" "pathogenic (dominant)" "" "0000660161" "11" "90" "17" "30323829" "30323829" "subst" "0" "00006" "SUZ12_000014" "g.30323829T>C" "" "{PMID:Cyrus 2019:31736240}, {PMID:Choufani 2020:32243864}" "" "" "inherited from affected father and mosaic in paternal grandfather" "Germline" "" "" "0" "" "" "g.31996810T>C" "" "pathogenic (dominant)" "" "0000660162" "0" "90" "17" "30300182" "30300182" "subst" "7.7688E-5" "00006" "SUZ12_000013" "g.30300182T>A" "" "{PMID:Choufani 2020:32243864}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31973163T>A" "" "pathogenic (dominant)" "" "0000660163" "11" "90" "17" "30325680" "30325680" "del" "0" "00006" "SUZ12_000012" "g.30325680del" "" "{PMID:Cyrus 2019:31736240}, {PMID:Choufani 2020:32243864}" "" "" "mosaicism in father" "Germline" "" "" "0" "" "" "g.31998661del" "" "pathogenic (dominant)" "" "0000660164" "0" "90" "17" "30322702" "30322703" "ins" "0" "00006" "SUZ12_000011" "g.30322702_30322703insCA" "" "{PMID:Cyrus 2019:31736240}, {PMID:Choufani 2020:32243864}" "" "" "" "De novo" "" "" "0" "EZH2 methylation signature" "" "g.31995683_31995684insCA" "" "pathogenic (dominant)" "" "0000660169" "0" "90" "17" "30323819" "30323819" "subst" "0" "00006" "SUZ12_000016" "g.30323819A>C" "" "{PMID:Imagawa 2018:30019515}" "" "" "mother not available" "Germline/De novo (untested)" "" "" "0" "" "" "g.31996800A>C" "" "pathogenic (dominant)" "" "0000660170" "0" "90" "17" "30303560" "30303561" "del" "0" "00006" "SUZ12_000017" "g.30303560_30303561del" "" "{PMID:Imagawa 2018:30019515}" "" "" "" "De novo" "" "" "0" "" "" "g.31976541_31976542del" "" "pathogenic (dominant)" "" "0000660172" "21" "90" "17" "30323829" "30323829" "subst" "0" "00006" "SUZ12_000014" "g.30323829T>C" "" "{PMID:Cyrus 2019:31736240}" "" "" "" "Germline" "" "" "0" "" "" "g.31996810T>C" "" "pathogenic (dominant)" "" "0000660173" "0" "90" "17" "30325762" "30325762" "subst" "0" "00006" "SUZ12_000018" "g.30325762C>T" "" "{PMID:Cyrus 2019:31736240}" "" "" "" "De novo" "" "" "0" "" "" "g.31998743C>T" "" "pathogenic (dominant)" "" "0000660174" "0" "90" "17" "30323848" "30323848" "dup" "0" "00006" "SUZ12_000023" "g.30323848dup" "" "{PMID:Cyrus 2019:31736240}" "" "1826dupG" "" "De novo" "" "" "0" "" "" "g.31996829dup" "" "pathogenic (dominant)" "" "0000660175" "0" "90" "17" "30267467" "30267470" "del" "0" "00006" "SUZ12_000020" "g.30267467_30267470del" "" "{PMID:Cyrus 2019:31736240}" "" "348_351delTTAC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31940448_31940451del" "" "pathogenic (dominant)" "" "0000660176" "0" "90" "17" "30322782" "30322782" "subst" "0" "00006" "SUZ12_000022" "g.30322782G>A" "" "{PMID:Cyrus 2019:31736240}" "" "IVS14+1G>A" "" "De novo" "" "" "0" "" "" "g.31995763G>A" "" "pathogenic (dominant)" "" "0000660177" "21" "90" "17" "30267300" "30267300" "subst" "0" "00006" "SUZ12_000019" "g.30267300C>G" "" "{PMID:Cyrus 2019:31736240}" "" "IVS1‐5C>G" "" "Germline" "" "" "0" "" "" "g.31940281C>G" "" "pathogenic (dominant)" "" "0000660178" "0" "90" "17" "30322591" "30322591" "subst" "0" "00006" "SUZ12_000021" "g.30322591G>A" "" "{PMID:Cyrus 2019:31736240}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31995572G>A" "" "pathogenic (dominant)" "" "0000680824" "0" "30" "17" "30264363" "30264363" "subst" "0.000198039" "01804" "SUZ12_000024" "g.30264363C>T" "" "" "" "SUZ12(NM_015355.2):c.98C>T (p.(Ala33Val)), SUZ12(NM_015355.4):c.98C>T (p.A33V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807890" "0" "50" "17" "30264363" "30264363" "subst" "0.000198039" "02325" "SUZ12_000024" "g.30264363C>T" "" "" "" "SUZ12(NM_015355.2):c.98C>T (p.(Ala33Val)), SUZ12(NM_015355.4):c.98C>T (p.A33V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807891" "0" "50" "17" "30303579" "30303579" "subst" "4.0714E-6" "02325" "SUZ12_000025" "g.30303579G>C" "" "" "" "SUZ12(NM_015355.4):c.863G>C (p.R288P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807892" "0" "30" "17" "30322658" "30322658" "subst" "0.00185202" "01804" "SUZ12_000026" "g.30322658T>C" "" "" "" "SUZ12(NM_001321207.1):c.1602T>C (p.(Tyr534=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865145" "0" "30" "17" "30264476" "30264476" "subst" "0.00476706" "01804" "SUZ12_000027" "g.30264476G>A" "" "" "" "SUZ12(NM_001321207.1):c.211G>A (p.(Val71Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865146" "0" "30" "17" "30320292" "30320292" "subst" "0.000234093" "01804" "SUZ12_000028" "g.30320292A>C" "" "" "" "SUZ12(NM_015355.2):c.1233A>C (p.(Gln411His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893463" "0" "30" "17" "30264461" "30264461" "subst" "0.000555139" "02325" "SUZ12_000029" "g.30264461G>A" "" "" "" "SUZ12(NM_015355.4):c.196G>A (p.A66T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930726" "0" "30" "17" "30325838" "30325838" "subst" "0.000260841" "02325" "SUZ12_000007" "g.30325838C>T" "" "" "" "SUZ12(NM_015355.3):c.2036C>T (p.T679I), SUZ12(NM_015355.4):c.2036C>T (p.T679I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982410" "0" "50" "17" "30264440" "30264442" "del" "0" "01804" "SUZ12_000031" "g.30264440_30264442del" "" "" "" "SUZ12(NM_015355.4):c.175_177del (p.(Ser59del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982411" "0" "50" "17" "30302537" "30302537" "subst" "0" "01804" "SUZ12_000032" "g.30302537A>G" "" "" "" "SUZ12(NM_015355.4):c.628A>G (p.(Lys210Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003106" "0" "50" "17" "30264432" "30264432" "subst" "0" "01804" "SUZ12_000033" "g.30264432C>T" "" "" "" "SUZ12(NM_015355.2):c.167C>T (p.(Ser56Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003107" "0" "30" "17" "30293162" "30293163" "dup" "0" "01804" "SUZ12_000034" "g.30293162_30293163dup" "" "" "" "SUZ12(NM_015355.2):c.456-4_456-3dupTT (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003108" "0" "70" "17" "30310124" "30310124" "subst" "0" "01804" "SUZ12_000035" "g.30310124G>C" "" "" "" "SUZ12(NM_015355.2):c.1023+1G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001003109" "0" "50" "17" "30315505" "30315505" "subst" "0" "01804" "SUZ12_000036" "g.30315505C>T" "" "" "" "SUZ12(NM_015355.2):c.1190C>T (p.(Thr397Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003110" "0" "30" "17" "30320282" "30320282" "subst" "2.3229E-5" "01804" "SUZ12_000037" "g.30320282C>G" "" "" "" "SUZ12(NM_015355.2):c.1223C>G (p.(Thr408Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041751" "0" "30" "17" "30306518" "30306518" "del" "0" "01804" "SUZ12_000038" "g.30306518del" "" "" "" "SUZ12(NM_015355.4):c.917+2885del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041752" "0" "30" "17" "30310411" "30310411" "subst" "0" "01804" "SUZ12_000039" "g.30310411C>A" "" "" "" "SUZ12(NM_015355.4):c.1023+288C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SUZ12 ## Count = 43 "{{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}}" "0000134735" "00020595" "70" "1829" "0" "1829" "0" "c.1829A>T" "r.(?)" "p.(Glu610Val)" "15" "0000315937" "00020595" "50" "1838" "0" "1839" "0" "c.1838_1839del" "r.(?)" "p.(Val613AspfsTer16)" "" "0000561004" "00020595" "30" "456" "-2" "456" "-2" "c.456-2A>T" "r.spl?" "p.?" "" "0000561005" "00020595" "30" "456" "-1" "456" "-1" "c.456-1G>T" "r.spl?" "p.?" "" "0000561006" "00020595" "30" "456" "0" "456" "0" "c.456C>T" "r.(?)" "p.(Ser152=)" "" "0000561007" "00020595" "30" "459" "0" "459" "0" "c.459G>T" "r.(?)" "p.(Leu153Phe)" "" "0000561008" "00020595" "50" "2036" "0" "2036" "0" "c.2036C>T" "r.(?)" "p.(Thr679Ile)" "" "0000561009" "00020595" "30" "2177" "0" "2177" "0" "c.2177G>A" "r.(?)" "p.(Ser726Asn)" "" "0000561010" "00020595" "50" "2188" "0" "2188" "0" "c.2188dup" "r.(?)" "p.(Val730GlyfsTer27)" "" "0000616455" "00020595" "30" "274" "8" "274" "8" "c.274+8T>C" "r.(=)" "p.(=)" "" "0000660158" "00020595" "90" "0" "0" "0" "0" "c.-222_2035[2]" "r.?" "p.?" "_1_16_" "0000660159" "00020595" "90" "1829" "0" "1829" "0" "c.1829A>T" "r.(?)" "p.(Glu610Val)" "" "0000660160" "00020595" "90" "1829" "0" "1829" "0" "c.1829A>T" "r.(?)" "p.(Glu610Val)" "" "0000660161" "00020595" "90" "1807" "0" "1807" "0" "c.1807T>C" "r.(?)" "p.(Phe603Leu)" "" "0000660162" "00020595" "90" "523" "0" "523" "0" "c.523T>A" "r.(?)" "p.(Ser175Thr)" "" "0000660163" "00020595" "90" "1878" "0" "1878" "0" "c.1878del" "r.(?)" "p.(Phe626Leufs*7)" "" "0000660164" "00020595" "90" "1715" "0" "1716" "0" "c.1715_1716insCA" "r.(?)" "p.(Leu572Phefs*11)" "" "0000660169" "00020595" "90" "1797" "0" "1797" "0" "c.1797A>C" "r.(?)" "p.(Gln599His)" "" "0000660170" "00020595" "90" "844" "0" "845" "0" "c.844_845del" "r.(?)" "p.(Ala282Glnfs*7)" "" "0000660172" "00020595" "90" "1807" "0" "1807" "0" "c.1807T>C" "r.(?)" "p.(Phe603Leu)" "" "0000660173" "00020595" "90" "1960" "0" "1960" "0" "c.1960C>T" "r.(?)" "p.(Arg654*)" "" "0000660174" "00020595" "90" "1826" "0" "1826" "0" "c.1826dup" "r.(?)" "p.(Glu610Argfs*20)" "" "0000660175" "00020595" "90" "348" "0" "351" "0" "c.348_351del" "r.(?)" "p.(Tyr117Cysfs*24)" "" "0000660176" "00020595" "90" "1794" "1" "1794" "1" "c.1794+1G>A" "r.spl" "p.?" "" "0000660177" "00020595" "90" "275" "-5" "275" "-5" "c.275-5C>G" "r.spl?" "p.?" "" "0000660178" "00020595" "90" "1604" "0" "1604" "0" "c.1604G>A" "r.(?)" "p.(Arg535Gln)" "" "0000680824" "00020595" "30" "98" "0" "98" "0" "c.98C>T" "r.(?)" "p.(Ala33Val)" "" "0000807890" "00020595" "50" "98" "0" "98" "0" "c.98C>T" "r.(?)" "p.(Ala33Val)" "" "0000807891" "00020595" "50" "863" "0" "863" "0" "c.863G>C" "r.(?)" "p.(Arg288Pro)" "" "0000807892" "00020595" "30" "1671" "0" "1671" "0" "c.1671T>C" "r.(?)" "p.(Tyr557=)" "" "0000865145" "00020595" "30" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Val71Met)" "" "0000865146" "00020595" "30" "1233" "0" "1233" "0" "c.1233A>C" "r.(?)" "p.(Gln411His)" "" "0000893463" "00020595" "30" "196" "0" "196" "0" "c.196G>A" "r.(?)" "p.(Ala66Thr)" "" "0000930726" "00020595" "30" "2036" "0" "2036" "0" "c.2036C>T" "r.(?)" "p.(Thr679Ile)" "" "0000982410" "00020595" "50" "175" "0" "177" "0" "c.175_177del" "r.(?)" "p.(Ser59del)" "" "0000982411" "00020595" "50" "628" "0" "628" "0" "c.628A>G" "r.(?)" "p.(Lys210Glu)" "" "0001003106" "00020595" "50" "167" "0" "167" "0" "c.167C>T" "r.(?)" "p.(Ser56Phe)" "" "0001003107" "00020595" "30" "456" "-4" "456" "-3" "c.456-4_456-3dup" "r.spl?" "p.?" "" "0001003108" "00020595" "70" "1023" "1" "1023" "1" "c.1023+1G>C" "r.spl?" "p.?" "" "0001003109" "00020595" "50" "1190" "0" "1190" "0" "c.1190C>T" "r.(?)" "p.(Thr397Ile)" "" "0001003110" "00020595" "30" "1223" "0" "1223" "0" "c.1223C>G" "r.(?)" "p.(Thr408Arg)" "" "0001041751" "00020595" "30" "917" "2885" "917" "2885" "c.917+2885del" "r.(=)" "p.(=)" "" "0001041752" "00020595" "30" "1023" "288" "1023" "288" "c.1023+288C>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000081963" "0000134735" "0000297556" "0000660158" "0000297557" "0000660159" "0000297558" "0000660160" "0000297559" "0000660161" "0000297560" "0000660162" "0000297561" "0000660163" "0000297562" "0000660164" "0000297565" "0000660169" "0000297566" "0000660170" "0000297568" "0000660172" "0000297569" "0000660173" "0000297570" "0000660174" "0000297571" "0000660175" "0000297572" "0000660176" "0000297573" "0000660177" "0000297574" "0000660178"