### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CDC42) # 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}}" "CDC42" "cell division cycle 42" "1" "p36.1" "unknown" "NG_047042.1" "UD_132319033625" "" "https://www.LOVD.nl/CDC42" "" "1" "1736" "998" "116952" "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/CDC42_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-02-10 15:37:09" "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}}" "00024227" "CDC42" "transcript variant 3" "001" "NM_001039802.1" "" "NP_001034891.1" "" "" "" "-292" "2002" "576" "22379120" "22419436" "00006" "2017-02-10 15:37:35" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05221" "TKS" "Takenouchi-Kosaki syndrome (TKS)" "AD" "616737" "" "" "" "00006" "2017-02-10 15:40:18" "00006" "2021-12-10 21:51:32" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "05772" "HLH" "lymphohistiocytosis, hemophagocytic" "IC" "" "" "" "" "00006" "2020-06-13 08:47:42" "00006" "2020-06-13 08:47:56" "05773" "THC" "thrombocytopenia (THC)" "" "" "" "" "" "00006" "2020-06-14 16:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CDC42" "05221" "CDC42" "05772" ## Individuals ## Do not remove or alter this header ## ## Count = 35 "{{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}}" "00050634" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00100300" "" "" "" "1" "" "00006" "{PMID:Takenouchi 2015:26386261}, {DOI:Takenouchi 2015:10.1002/ajmg.a.37275}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "Japan" "" "0" "" "" "Japanese; Iranian" "patient" "00100301" "" "" "" "1" "" "00006" "{PMID:Takenouchi 2016:26708094}, {DOI:Takenouchi 2016:10.1002/ajmg.a.37526}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "Japan" "" "0" "" "" "" "patient" "00100305" "" "" "" "1" "" "00006" "{PMID:Motokawa 2018:29335451}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "Japan" "" "0" "" "" "" "patient" "00269936" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00289738" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00303066" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat108" "00303481" "" "" "" "1" "" "00006" "{PMID:Lam 2019:31601675}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" ">6y" "0" "" "" "white" "Pat1" "00303482" "" "" "" "1" "" "00006" "{PMID:Lam 2019:31601675}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "6m" "0" "" "" "white" "Pat2" "00303483" "" "" "" "1" "" "00006" "{PMID:Lam 2019:31601675}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "1y6m" "0" "" "" "white" "Pat3" "00303484" "" "" "" "1" "" "00006" "{PMID:Lam 2019:31601675}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "4m15d" "0" "" "" "Middle East" "Pat4" "00303487" "" "" "" "1" "" "00006" "{PMID:Takenouchi 2016:26708094}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "Japan" "" "0" "" "" "" "patient" "00303488" "" "" "" "1" "" "00006" "{PMID:Takenouchi 2015:26386261}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Iran;Japan" "" "0" "" "" "" "patient" "00303491" "" "" "" "1" "" "00006" "{PMID:Martinelli 2018:29394990}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat1" "00303492" "" "" "" "1" "" "00006" "{PMID:Martinelli 2018:29394990}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat2" "00303493" "" "" "" "1" "" "00006" "{PMID:Martinelli 2018:29394990}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat3" "00303494" "" "" "" "1" "" "00006" "{PMID:Martinelli 2018:29394990}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat4" "00303495" "" "" "" "1" "" "00006" "{PMID:Martinelli 2018:29394990}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat5" "00303496" "" "" "" "1" "" "00006" "{PMID:Martinelli 2018:29394990}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat6" "00303497" "" "" "" "1" "" "00006" "{PMID:Martinelli 2018:29394990}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat7" "00303498" "" "" "" "1" "" "00006" "{PMID:Martinelli 2018:29394990}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat8" "00303499" "" "" "" "1" "" "00006" "{PMID:Martinelli 2018:29394990}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat9" "00303500" "" "" "" "1" "" "00006" "{PMID:Martinelli 2018:29394990}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat10" "00303501" "" "" "" "1" "" "00006" "{PMID:Martinelli 2018:29394990}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat11" "00303502" "" "" "" "1" "" "00006" "{PMID:Martinelli 2018:29394990}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat12" "00303503" "" "" "" "6" "" "00006" "{PMID:Martinelli 2018:29394990}" "4-generation family, 6 affected (2F, 4M), Fam30153Pat" "F" "" "" "" "0" "" "" "" "Pat13" "00303504" "" "" "00303503" "1" "" "00006" "{PMID:Martinelli 2018:29394990}" "Fam30153Fat" "M" "" "" "" "0" "" "" "" "Pat14" "00303505" "" "" "00303503" "1" "" "00006" "{PMID:Martinelli 2018:29394990}" "Fam30153Aunt" "F" "" "" "" "0" "" "" "" "Pat15" "00303516" "" "" "" "1" "" "00006" "{PMID:Uehara 2019:30872706}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Japan" "" "0" "" "" "" "patient" "00303517" "" "" "" "1" "" "00006" "{PMID:Bucciol 2020:31953712}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Belgium" "26y" "0" "" "" "" "patient" "00303518" "" "" "" "1" "" "00006" "{PMID:Gernez 2019:31271789}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat1" "00303519" "" "" "" "1" "" "00006" "{PMID:Gernez 2019:31271789}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat2" "00303520" "" "" "" "1" "" "00006" "{PMID:Gernez 2019:31271789}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat3" "00303521" "" "" "" "1" "" "00006" "{PMID:Gernez 2019:31271789}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "Hispanic" "Pat4" "00443839" "" "" "" "1" "" "00006" "{PMID:Imafidon 2021:34136434}" "prenatal indication abnormal ultrasound" "M" "" "Netherlands" "" "0" "" "" "" "Pat624" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 35 "{{individualid}}" "{{diseaseid}}" "00050634" "00198" "00100300" "05221" "00100301" "05221" "00100305" "05221" "00269936" "00198" "00289738" "00198" "00303066" "05521" "00303481" "05772" "00303482" "05772" "00303483" "05772" "00303484" "05772" "00303487" "05773" "00303488" "05773" "00303491" "00198" "00303492" "00198" "00303493" "00198" "00303494" "00198" "00303495" "00198" "00303496" "00198" "00303497" "00198" "00303498" "00198" "00303499" "00198" "00303500" "00198" "00303501" "00198" "00303502" "00198" "00303503" "00198" "00303504" "00198" "00303505" "00198" "00303516" "05221" "00303517" "05221" "00303518" "00198" "00303519" "00198" "00303520" "00198" "00303521" "00198" "00443839" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05221, 05521, 05772, 05773 ## Count = 34 "{{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}}" "0000037246" "00198" "00050634" "00006" "Isolated (sporadic)" "" "supraventricular tachycardia, mild short stature, clinodactyly of the 5th finger, specific learning disability" "" "" "" "" "" "" "" "" "" "" "" "0000078520" "05221" "00100300" "00006" "Isolated (sporadic)" "22y" "see paper; ..., macrothrombocytopenia, developmental delay; structural brain anomalies; growth retardation; facial dysmorphism; sensorineural deafness; camptodactily; no hypothyroidism; lymph edema; cardio-vascular anomalies; thrombocytopenia; recurrent infections; no inflammation; Eczema, inguinal hernia" "" "" "" "" "" "" "" "" "TKS" "" "" "0000078521" "05221" "00100301" "00006" "Isolated (sporadic)" "26y" "see paper; ..., macrothrombocytopenia, developmental delay; structural brain anomalies; growth retardation; facial dysmorphism; sensorineural deafness; camptodactily; no hypothyroidism; lymph edema; no cardio-vascular anomalies; thrombocytopenia; no recurrent infections; lymphopenia; no inflammation; retinal dysplasia, intestinal lymphangiectasia" "" "" "" "" "" "" "" "" "TKS" "" "" "0000078525" "05221" "00100305" "00006" "Isolated (sporadic)" "14y" "see paper; ...,developmental delay; structural brain anomalies; growth retardation; facial dysmorphism; sensorineural deafness; camptodactily; hypothyroidism; no lymph edema; no cardio-vascular anomalies; thrombocytopenia; recurrent infections; lymphopenia; no inflammation; hypogammaglobulinemia" "" "" "" "" "" "" "" "" "TKS" "TKS" "" "0000207732" "00198" "00269936" "01807" "Unknown" "" "Hypospadias (HP:0000047); Microcephaly (HP:0000252); Epicanthus (HP:0000286); Strabismus (HP:0000486); Myopia (HP:0000545); Delayed speech and language development (HP:0000750); Seizures (HP:0001250); Global developmental delay (HP:0001263); Agenesis of corpus callosum (HP:0001274); Dandy-Walker malformation (HP:0001305); Polymicrogyria (HP:0002126); Gait imbalance (HP:0002141); Abnormality of mouth size (HP:0011337)" "" "" "" "" "" "" "" "" "" "" "" "0000230149" "05521" "00303066" "00006" "Isolated (sporadic)" "" "Unclassified epilepsy; age onset unknown" "" "" "" "" "" "" "" "" "" "seizures" "" "0000230561" "05772" "00303481" "00006" "Isolated (sporadic)" "06y" "see paper; ..., fever; skin rash; no facial dysmorphism; failure to thrive; hepatomegaly; splenomegaly; CNS inflammatory disease, 2y-3 episodes with generalized seizures, white and gray matter lesions in MR; gastrointestinal symptoms diarrhea, 11m-intestinal bleeding, 5y-intestinal infarction; no cardiac abnormalities; hemophagocytic lymphohistiocytosis ; anemia; thrombocytopenia, constant transfusion dependent V2y; profound neutropenia; monocytopenia; acute-phase response; BM dysplasia; suspected trigonocephaly" "" "" "" "" "" "" "" "" "" "hemophagocytic lymphohistiocytosis" "" "0000230562" "05772" "00303482" "00006" "Isolated (sporadic)" "00y06m" "see paper; ..., fever; skin rash; no facial dysmorphism; failure to thrive; hepatomegaly; splenomegaly; no CNS inflammatory disease; chronic diarrhea; no cardiac abnormalities; hemophagocytic lymphohistiocytosis ; anemia; thrombocytopenia, intermittent transfusion during flares; profound neutropenia; monocytopenia; acute-phase response; BM dysplasia; 6m-died" "" "" "" "" "" "" "" "" "" "hemophagocytic lymphohistiocytosis" "" "0000230563" "05772" "00303483" "00006" "Isolated (sporadic)" "01y06m" "see paper; ..., fever; skin rash; no facial dysmorphism; failure to thrive; hepatomegaly; splenomegaly; no CNS inflammatory disease, increased CSF protein and MRI with leptomeningitis; small intestine inflammation; no cardiac abnormalities; hemophagocytic lymphohistiocytosis ; anemia; thrombocytopenia, transfusion dependent; profound neutropenia; acute-phase response; BM dysplasia; 1y6m-died" "" "" "" "" "" "" "" "" "" "hemophagocytic lymphohistiocytosis" "" "0000230564" "05772" "00303484" "00006" "Isolated (sporadic)" "00y04m15d" "see paper; ..., fever; skin rash; no facial dysmorphism; failure to thrive; hepatomegaly; no splenomegaly; no CNS inflammatory disease; severe, unremitting enterocolitis from birth, diarrhea with intestinal bleedings and infarctions; no cardiac abnormalities; hemophagocytic lymphohistiocytosis ; anemia; thrombocytopenia, transfusion dependent; mild neutropenia; acute-phase response; BM dysplasia; very small thymus; arthritis; 4.5m-died" "" "" "" "" "" "" "" "" "" "hemophagocytic lymphohistiocytosis" "" "0000230565" "05773" "00303487" "00006" "Isolated (sporadic)" "22y" "see paper; ..., birth 39w, weight 2,290 g (−1.8 SD), length 46 cm (−1.5 SD); arched eyebrows, mild ptosis, eversion lateral portio lower eyelid, exotropia, midfacial hypoplasia, short philtrum, thin upper lip, malocclusion; length 135 cm (−4.3 SD), weight 33 kg (−3.0 SD); psychomotor development delayed\twalk-3y\tno seizures/no epilepsy; no ataxia; no cerebellar atrophy; ventriculomegaly; platelet count 63,000/μl, platelet size increased\themoglobin 12.5 g/dl; white blood count 2,300/μl; progressive microcephaly; camptodactyly; lymphedema; protein‐losing enteropathy; sensory neural hearing loss; no patent ductus arteriosus; no inguinal hernia" "" "" "" "" "" "" "" "" "TKS" "thrombocytopenia" "" "0000230566" "05773" "00303488" "00006" "Isolated (sporadic)" "18y" "see paper; ..., birth 39w, weight 2,980 g (±0.0 SD), length 50 cm (+0.6 SD); arched eyebrows, mild ptosis, eversion lateral portio lower eyelid, exotropia, midfacial hypoplasia, short philtrum, thin upper lip, malocclusion; length 150 cm (−1.5 SD), weight 39 kg (−1.6 SD); psychomotor development delayed\twalk-4y\tno seizures/no epilepsy; ataxia; no cerebellar atrophy\tventriculomegaly; platelet count 98,000/μl, platelet size increased\themoglobin 13.5 g/dl; white blood count 4,600/μl; progressive microcephaly; camptodactyly; lymphedema; no protein‐losing enteropathy; sensory neural hearing loss; 1y-patent ductus arteriosus surgically ligated inguinal hernia, operated" "" "" "" "" "" "" "" "" "TKS" "thrombocytopenia" "" "0000230569" "00198" "00303491" "00006" "Isolated (sporadic)" "10y" "birth weight –2 SD; OFC –2 SD; postnatal growth deficiency; developmental delay/initellectual disability, no IQ testing, attention-deficit hyperactivity disorder; no seizures; hypotonia; myopia; café au lait spots; scoliosis; inguinal hernia; unilateral renal agenesis; no lymphatic malformations; recurrent infections, recurrent otitis media; prominent forehead; wide palpebral fissures; unilateral ptosis; high narrow nasal bridge; no flared nostrils; broad nasal tip; low-hanging columella; underdeveloped midface; normal philtrum; no thin upper vermillion; cupid bow mouth; large ears; synophrys, prominent metopic suture; MRI brain no features" "" "" "" "" "" "" "" "" "" "" "" "0000230570" "00198" "00303492" "00006" "Isolated (sporadic)" "14y" "birth weight –1.5 SD, OFC –2 SD; postnatal weight –1 SD, OFC –3.5 SD; postnatal growth deficiency; severe developmental delay/initellectual disability; seizures; hypotonia; low growth hormone; no hypothyroidism; no immunodeficiency; camptodactyly; optic atrophy; normal skin; no pectus; scoliosis; inguinal hernia; no cardiac defects; no gastrourigenital defects; no lymphatic malformations; no recurrent infections; normal hair; normal eyebrows; normal forehead; no hypertelorism; wide palpebral fissures; no everted lateral eyelids; epicanthal folds; no ptosis; high nasal bridge; no flared nostrils; up nasal tip; low-hanging columella; no underdeveloped midface; short philtrum; no thin upper vermillion; corners down mouth; normal ears; long neck; MRI brain diffuse atrophy, decreased white matter, ventriculomegaly, thin corpus callosum, diffuse atrophy, mild vermis hypoplasia" "" "" "" "" "" "" "" "" "" "" "" "0000230571" "00198" "00303493" "00006" "Isolated (sporadic)" "15y" "birth weight -2 SD, OFC –2.2 SD; postnatal weight –0.9 SD, OFC –4.3 SD; postnatal growth deficiency; severe developmental delay/initellectual disability; no seizures; hypotonia, contractures; no endocrine issues; hypothyroidism; immunodeficiency; camptodactyly, distal arthrogry posis; pale optic nerves; exzema; no pectus; scoliosis; inguinal hernia; cardiac ASD/VS D/PDA; renal pelviectasis; no lymphatic malformations; recurrent infections; hair whorls; medial flared eyebrows; short forehead; hypertelorism; no wide palpebral fissures; no everted lateral eyelids; no epicanthal folds; bilateral ptosis; narrow nasal bridge; flared nostrils; broad nasal tip; no low-hanging columella; underdeveloped midface; short philtrum; thin upper vermillion; wide mouth; small low-set ears; upslanting palpebral fissures, medial flared eyebrows, small chin; MRI brain mildly thin white matter, ventriculomegaly, thin corpus callosum" "" "" "" "" "" "" "" "" "" "" "" "0000230572" "00198" "00303494" "00006" "Isolated (sporadic)" "18y" "birth weight –4 SD; postnatal weight –5 SD, OFC –0.5 SD; postnatal growth deficiency; severe developmental delay/initellectual disability; no seizures; hypotonia; low growth hormone; no hypothyroidism; immunodeficiency; syndactyly; hyperopia, strabismus, optic atrophy, thick corneas; skin multiple nevi; no pectus; scoliosis; no inguinal hernia; no cardiac defects; renal dysplasia; pericardial effusion; recurrent infections; hair whorls; normal eyebrows; broad forehead; no hypertelorism; no wide palpebral fissures; no everted lateral eyelids; no epicanthal folds; no ptosis; high narrow nasal bridge; no flared nostrils; broad nasal tip; no low-hanging columella; no underdeveloped midface; normal philtrum; thin upper vermillion; wide mouth; normal ears; cleft palate, widely spaced teeth; MRI brain mildly prominent perivascular white matter signal intensities (posteriorly), mildly thick corpus callosum" "" "" "" "" "" "" "" "" "" "" "" "0000230573" "00198" "00303495" "00006" "Isolated (sporadic)" "8m" "postnatal weight –5 SD, OFC –3.5 SD; postnatal growth deficiency; developmental delay/initellectual disability; normal hands, normal feet; normal skin; no pectus; no scoliosis; no inguinal hernia; no cardiac defects; no gastrourigenital defects; no lymphatic malformations; no recurrent infections; normal hair; normal eyebrows; normal forehead; no hypertelorism; no wide palpebral fissures; no everted lateral eyelids; no epicanthal folds; no ptosis; normal nasal bridge; no flared nostrils; normal nasal tip; no low-hanging columella; no underdeveloped midface; normal philtrum; no thin upper vermillion; normal mouth; normal ears" "" "" "" "" "" "" "" "" "" "" "" "0000230574" "00198" "00303496" "00006" "Isolated (sporadic)" "4y" "birth weight 0 SD, OFC –0.25 SD; postnatal weight –2.4 SD, OFC –2 SD; postnatal growth deficiency; severe developmental delay/initellectual disability; no seizures; contractures; no endocrine issues; no hypothyroidism; no immunodeficiency; normal hands, normal feet; strabismus; skin maculopa pular cutaneous eruption; pectus; no scoliosis; inguinal hernia; hypertrophic cardiomyopathy; no gastrourigenital defects; no lymphatic malformations; recurrent infections; sparse hair, hair whorls; sparse eyebrows; prominent forehead; hypertelorism; no wide palpebral fissures; no everted lateral eyelids; epicanthal folds; no ptosis; wise nasal bridge; flared nostrils; broad nasal tip; no low-hanging columella; underdeveloped midface; long philtrum; thin upper vermillion; normal mouth; ears thick helix; webbed neck; MRI brain mildly prominent perivascular white matter signal intensities (posteriorly), ventriculomegaly, increased extra-axial space, mildly thin corpus callosum, large tectum" "" "" "" "" "" "" "" "" "" "" "" "0000230575" "00198" "00303497" "00006" "Isolated (sporadic)" "5y" "birth weight 0 SD, OFC +1.5 SD; postnatal weight –1.3 SD, OFC +0.25 SD; no postnatal growth deficiency; severe developmental delay/initellectual disability; 4 febrile seizures; no hypotonia, no contractures; no endocrine issues; no hypothyroidism; no immunodeficiency; long thin fingers; Astigmatism; normal skin; no pectus; no scoliosis; bilateral inguinal hernia; ventricular septal defect, patent foramen ovale; no gastrourigenital defects; no lymphatic malformations; recurrent infections; sparse hair; sparse eyebrows; broad forehead,prominent forehead; mild hypertelorism; no wide palpebral fissures; no everted lateral eyelids; no epicanthal folds; bilateral ptosis; wise nasal bridge; flared nostrils; broad nasal tip; no low-hanging columella; underdeveloped midface; long philtrum; thin upper vermillion; cupid bow mouth; low-set ears; MRI brain subependymal heterotopia, partial agenesis corpus callosum" "" "" "" "" "" "" "" "" "" "" "" "0000230576" "00198" "00303498" "00006" "Isolated (sporadic)" "4y" "birth weight –1.5 SD; OFC –2.6; postnatal growth deficiency; severe developmental delay/initellectual disability; no seizures; no hypotonia, no contractures; no endocrine issues; no hypothyroidism; no immunodeficiency; normal hands, normal feet; strabismus; normal skin; no pectus; no scoliosis; no inguinal hernia; no cardiac defects; penile webbing; no lymphatic malformations; recurrent infections; normal hair; normal eyebrows; broad forehead,prominent forehead; hypertelorism; wide palpebral fissures; no everted lateral eyelids; epicanthal folds; no ptosis; wise nasal bridge; flared nostrils; broad nasal tip; no low-hanging columella; underdeveloped midface; long philtrum; thin upper vermillion; low-set ears; MRI brain mild partial agenesis corpus callosum, mega cisterna magna" "" "" "" "" "" "" "" "" "" "" "" "0000230577" "00198" "00303499" "00006" "Isolated (sporadic)" "6y" "birth weight 0 SD; postnatal weight –1.5 SD, OFC +2 SD; postnatal growth deficiency; severe developmental delay/initellectual disability; seizures; no hypotonia, no contractures; low growth hormone; hypothyroidism; no immunodeficiency; normal hands, normal feet; strabismus; normal skin; no pectus; scoliosis; no inguinal hernia; total anomalous pulmonary venous return coarctation; no gastrourigenital defects; no lymphatic malformations; recurrent infections; hair whorls; normal eyebrows; broad forehead,prominent forehead; hypertelorism; no wide palpebral fissures; no everted lateral eyelids; no epicanthal folds; bilateral ptosis; wise nasal bridge; no flared nostrils; normal nasal tip; no low-hanging columella; no underdeveloped midface; long philtrum; thin upper vermillion; cupid bow mouth, wide mouth; low-set ears; broad jaw, widely spaced teeth; MRI brain mild periventricular, white matter abnormalities (periventricular leukomalacia), hydrocephalus s/p shunting, mildly thin corpus callosum" "" "" "" "" "" "" "" "" "" "" "" "0000230578" "00198" "00303500" "00006" "Isolated (sporadic)" "34y" "birth weight –0.75 SD, OFC 0 SD; postnatal weight +2 SD, OFC 0 SD; postnatal growth deficiency; severe developmental delay/initellectual disability; myoclonic seizures; contractures; no endocrine issues; no hypothyroidism; no immunodeficiency; syndactyly, camptodactyly; strabismus; normal skin; no pectus; no scoliosis; inguinal hernia; no cardiac defects; no gastrourigenital defects; pericardial effusion/gut; recurrent infections; sparse hair, hair whorls; normal eyebrows; prominent forehead; hypertelorism; no wide palpebral fissures; no everted lateral eyelids; no epicanthal folds; bilateral ptosis; wise nasal bridge; flared nostrils; normal nasal tip; no low-hanging columella; no underdeveloped midface; normal philtrum; no thin upper vermillion; wide mouth; normal ears; broad jaw, widely spaced teeth; MRI brain ventriculomegaly, cerebellar tonsillar ectopia" "" "" "" "" "" "" "" "" "" "" "" "0000230579" "00198" "00303501" "00006" "Isolated (sporadic)" "6y" "birth weight –2 SD, OFC –3 SD; postnatal weight –2 SD, OFC –3 SD; postnatal growth deficiency; severe developmental delay/initellectual disability; no seizures; hypotonia, contractures; no endocrine issues; no hypothyroidism; no immunodeficiency; syndactyly, camptodactyly; strabismus, oculomotor palsy; normal skin; no pectus; no scoliosis; no inguinal hernia; patent foramen ovale; hypospadias; no lymphatic malformations; no recurrent infections; sparse hair; sparse eyebrows; prominent forehead; hypertelorism; wide palpebral fissures; no everted lateral eyelids; no epicanthal folds; bilateral ptosis; wise nasal bridge; no flared nostrils; broad nasal tip; no low-hanging columella; underdeveloped midface; normal philtrum; no thin upper vermillion; cupid bow mouth; normal ears; MRI brain white matter signal intensities, partial agenesis corpus callosum, large posterior fossa, cerebellar foliar dysplasia, large inferior cerebellar peduncle, small middle cerebellar peduncle, stretched superior cerebellar peduncle, severe Dandy-Walker malformation, dysplastic thalami, small medulla/pons, cleft in tectum, abnormal superior colliculi, unilateral hippocampal dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000230580" "00198" "00303502" "00006" "Isolated (sporadic)" "12y" "birth weight –1 SD, OFC –1 SD; postnatal weight +0.5 SD, OFC –1.7 SD; no postnatal growth deficiency; no developmental delay, no initellectual disability; no seizures; no hypotonia, no contractures; no endocrine issues; no hypothyroidism; no immunodeficiency; normal hands, normal feet; myopia, strabismus; skin multiple nevi; pectus; no scoliosis; no inguinal hernia; no cardiac defects; no gastrourigenital defects; no lymphatic malformations; no recurrent infections; sparse hair; sparse eyebrows; normal forehead; hypertelorism; wide palpebral fissures; everted lateral eyelids; epicanthal folds; bilateral ptosis; wise nasal bridge; flared nostrils; broad nasal tip; no low-hanging columella; no underdeveloped midface; deep philtrum; thin upper vermillion; normal mouth; large low-set ears; webbed neck" "" "" "" "" "" "" "" "" "" "" "" "0000230581" "00198" "00303503" "00006" "Familial, autosomal dominant" ">18y" "birth weight +0.25 SD; postnatal weight –2.5 SD, OFC –3.5 SD; postnatal growth deficiency; no developmental delay, no initellectual disability; no seizures; no hypotonia, no contractures; no endocrine issues; no hypothyroidism; no immunodeficiency; normal hands, normal feet; strabismus, optic atroph; normal skin; pectus; no scoliosis; no inguinal hernia; Pulmonary stenosis; no gastrourigenital defects; no lymphatic malformations; no recurrent infections; normal eyebrows; broad forehead; hypertelorism; no wide palpebral fissures; no everted lateral eyelids; epicanthal folds; no ptosis; wise nasal bridge; flared nostrils; up broad nasal tip; no low-hanging columella; no underdeveloped midface; long philtrum; thin upper vermillion; corners down mouth; low-set ears; webbed neck" "" "" "" "" "" "" "" "" "" "" "" "0000230582" "00198" "00303504" "00006" "Familial, autosomal dominant" ">18y" "postnatal weight –1.5 SD; no postnatal growth deficiency; no developmental delay, no initellectual disability; no seizures; no hypotonia, no contractures; no endocrine issues; no hypothyroidism; no immunodeficiency; normal hands, normal feet; normal skin; pectus; no scoliosis; no inguinal hernia; no cardiac defects; no gastrourigenital defects; no lymphatic malformations; no recurrent infections; normal eyebrows; broad forehead; no hypertelorism; no wide palpebral fissures; no epicanthal folds; normal nasal bridge; no flared nostrils; up broad nasal tip; no underdeveloped midface; long philtrum; thin upper vermillion; normal mouth; low-set ears; webbed neck" "" "" "" "" "" "" "" "" "" "" "" "0000230583" "00198" "00303505" "00006" "Familial, autosomal dominant" ">18y" "postnatal growth deficiency; no developmental delay, no initellectual disability; no seizures; no hypotonia, no contractures; no endocrine issues; no hypothyroidism; no immunodeficiency; normal hands, normal feet; normal skin; pectus; no scoliosis; no inguinal hernia; myocardial insufficiency;; no gastrourigenital defects; no lymphatic malformations; no recurrent infections" "" "" "" "" "" "" "" "" "" "" "" "0000230593" "05221" "00303516" "00006" "Isolated (sporadic)" "04y" "see paper; ..., developmental delay; structural brain anomalies; sensorineural deafness; no camptodactily; hypothyroidism; no lymph edema; thrombocytopenia; no recurrent infections" "" "" "" "" "" "" "" "" "TKS" "" "" "0000230594" "05221" "00303517" "00006" "Isolated (sporadic)" "" "see paper; 26y-died; ..., developmental delay; structural brain anomalies; growth retardation; facial dysmorphism; sensorineural deafness; camptodactily; no hypothyroidism; no lymph edema; cardio-vascular anomalies; thrombocytopenia; recurrent infections; lymphopenia; inflammation; liver hemangiomas, hepatosplenomegaly, spleen and kidney nodules, aortic aneurysm, scoliosis, lung hemorrhages" "" "26y" "" "" "" "" "" "" "TKS" "" "" "0000230595" "00198" "00303518" "00006" "Isolated (sporadic)" "18m" "see paper; ..., no structural brain anomalies; growth retardation; facial dysmorphism; no sensorineural deafness; no camptodactily; no hypothyroidism; no lymph edema; no cardio-vascular anomalies; thrombocytopenia; no recurrent infections; inflammation; Cytopenias, nodular rashes, arthralgias, hepatosplenomegaly, recurrent fever" "" "" "" "" "" "" "" "" "" "" "" "0000230596" "00198" "00303519" "00006" "Isolated (sporadic)" "22m" "see paper; ..., no structural brain anomalies; growth retardation; facial dysmorphism; no sensorineural deafness; no camptodactily; no hypothyroidism; no lymph edema; no cardio-vascular anomalies; thrombocytopenia; recurrent infections; inflammation; Cytopenias, lymphadenopathy, hepatosplenomegaly, skin rash, recurrent fever, cholestasis, HLH" "" "" "" "" "" "" "" "" "" "" "" "0000230597" "00198" "00303520" "00006" "Isolated (sporadic)" "6y" "see paper; ..., no developmental delay; no structural brain anomalies; growth retardation; no facial dysmorphism; no sensorineural deafness; no camptodactily; no hypothyroidism; no lymph edema; no cardio-vascular anomalies; thrombocytopenia; recurrent infections; inflammation; Cytopenias, skin rash, HLH, brain hemorrhage, hepatosplenomegaly, recurrent fever" "" "" "" "" "" "" "" "" "" "" "" "0000230598" "00198" "00303521" "00006" "Isolated (sporadic)" "12y" "see paper; ..., developmental delay; no structural brain anomalies; growth retardation; facial dysmorphism; no sensorineural deafness; no camptodactily; no hypothyroidism; no lymph edema; no cardio-vascular anomalies; thrombocytopenia; recurrent infections; inflammation; Cytopenias, brain hemorrhage, hepatosplenomegaly, skin rash, recurrent fever" "" "" "" "" "" "" "" "" "" "" "" "0000333116" "00198" "00443839" "00006" "Isolated (sporadic)" "" "dandy walker malformation, cerebellar cyst, dysmorphic features" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 35 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050579" "00050634" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000100704" "00100300" "1" "00006" "00006" "2017-02-10 15:46:50" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000100705" "00100301" "1" "00006" "00006" "2017-02-10 15:51:57" "" "" "SEQ" "DNA" "" "" "0000100709" "00100305" "1" "00006" "00006" "2017-02-10 16:02:13" "" "" "SEQ" "DNA" "" "" "0000271089" "00269936" "1" "01807" "01807" "2019-12-10 12:34:09" "" "" "SEQ" "DNA" "" "" "0000290906" "00289738" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304191" "00303066" "1" "00006" "00006" "2020-06-05 14:49:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000304610" "00303481" "1" "00006" "00006" "2020-06-13 08:59:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304611" "00303482" "1" "00006" "00006" "2020-06-13 08:59:14" "" "" "SEQ" "DNA" "" "" "0000304612" "00303483" "1" "00006" "00006" "2020-06-13 08:59:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304613" "00303484" "1" "00006" "00006" "2020-06-13 08:59:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000304616" "00303487" "1" "00006" "00006" "2020-06-14 16:21:17" "00006" "2020-06-14 16:25:28" "SEQ" "DNA" "" "" "0000304617" "00303488" "1" "00006" "00006" "2020-06-14 16:28:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304620" "00303491" "1" "00006" "00006" "2020-06-15 09:56:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304621" "00303492" "1" "00006" "00006" "2020-06-15 09:56:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304622" "00303493" "1" "00006" "00006" "2020-06-15 09:56:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304623" "00303494" "1" "00006" "00006" "2020-06-15 09:56:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304624" "00303495" "1" "00006" "00006" "2020-06-15 09:56:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304625" "00303496" "1" "00006" "00006" "2020-06-15 09:56:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304626" "00303497" "1" "00006" "00006" "2020-06-15 09:56:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304627" "00303498" "1" "00006" "00006" "2020-06-15 09:56:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304628" "00303499" "1" "00006" "00006" "2020-06-15 09:56:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304629" "00303500" "1" "00006" "00006" "2020-06-15 09:56:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304630" "00303501" "1" "00006" "00006" "2020-06-15 09:56:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304631" "00303502" "1" "00006" "00006" "2020-06-15 09:56:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304632" "00303503" "1" "00006" "00006" "2020-06-15 09:56:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304633" "00303504" "1" "00006" "00006" "2020-06-15 09:56:59" "" "" "SEQ" "DNA" "" "" "0000304634" "00303505" "1" "00006" "00006" "2020-06-15 09:56:59" "" "" "SEQ" "DNA" "" "" "0000304644" "00303516" "1" "00006" "00006" "2020-06-15 16:49:05" "" "" "SEQ" "DNA" "" "" "0000304645" "00303517" "1" "00006" "00006" "2020-06-15 16:53:55" "" "" "SEQ" "DNA" "" "" "0000304646" "00303518" "1" "00006" "00006" "2020-06-15 17:08:24" "" "" "SEQ" "DNA" "" "" "0000304647" "00303519" "1" "00006" "00006" "2020-06-15 17:08:24" "" "" "SEQ" "DNA" "" "" "0000304648" "00303520" "1" "00006" "00006" "2020-06-15 17:08:24" "" "" "SEQ" "DNA" "" "" "0000304649" "00303521" "1" "00006" "00006" "2020-06-15 17:08:24" "" "" "SEQ" "DNA" "" "" "0000445336" "00443839" "1" "00006" "00006" "2023-12-03 11:44:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 31 "{{screeningid}}" "{{geneid}}" "0000100704" "CDC42" "0000100705" "CDC42" "0000100709" "CDC42" "0000304191" "CDC42" "0000304610" "CDC42" "0000304611" "CDC42" "0000304612" "CDC42" "0000304613" "CDC42" "0000304616" "CDC42" "0000304617" "CDC42" "0000304620" "CDC42" "0000304621" "CDC42" "0000304622" "CDC42" "0000304623" "CDC42" "0000304624" "CDC42" "0000304625" "CDC42" "0000304626" "CDC42" "0000304627" "CDC42" "0000304628" "CDC42" "0000304629" "CDC42" "0000304630" "CDC42" "0000304631" "CDC42" "0000304632" "CDC42" "0000304633" "CDC42" "0000304634" "CDC42" "0000304644" "CDC42" "0000304645" "CDC42" "0000304646" "CDC42" "0000304647" "CDC42" "0000304648" "CDC42" "0000304649" "CDC42" ## 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 = 52 "{{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}}" "0000079559" "0" "90" "1" "20540741" "22890410" "del" "0" "00006" "HSPG2_000007" "g.20540741_22890410del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "g.20214248_22563917del" "" "pathogenic" "" "0000163056" "0" "90" "1" "22412944" "22412944" "subst" "0" "00006" "CDC42_000001" "g.22412944A>G" "" "{PMID:Takenouchi 2015:26386261}, {DOI:Takenouchi 2015:10.1002/ajmg.a.37275}, {OMIM116952:0001}" "" "" "" "De novo" "-" "" "0" "" "" "g.22086451A>G" "" "pathogenic" "" "0000163057" "0" "90" "1" "22412944" "22412944" "subst" "0" "00006" "CDC42_000001" "g.22412944A>G" "" "{PMID:Takenouchi 2016:26708094}, {DOI:Takenouchi 2016:10.1002/ajmg.a.37526}, {OMIM116952:0001}" "" "" "" "De novo" "-" "" "0" "" "" "g.22086451A>G" "" "pathogenic" "" "0000163062" "0" "90" "1" "22412944" "22412944" "subst" "0" "00006" "CDC42_000001" "g.22412944A>G" "" "{PMID:Motokawa 2018:29335451}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000505668" "0" "50" "1" "22408216" "22408216" "subst" "0" "02327" "CDC42_000003" "g.22408216T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22081723T>C" "" "VUS" "" "0000505669" "0" "50" "1" "22417942" "22417942" "subst" "0" "01804" "CDC42_000004" "g.22417942G>A" "" "" "" "CDC42(NM_001791.3):c.508G>A (p.(Asp170Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22091449G>A" "" "VUS" "" "0000605221" "0" "50" "1" "22413226" "22413226" "subst" "0" "02325" "CDC42_000006" "g.22413226A>G" "" "" "" "CDC42(NM_001039802.2):c.353A>G (p.D118G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22086733A>G" "" "VUS" "" "0000620527" "0" "10" "1" "22408212" "22408212" "subst" "0.0155772" "02330" "CDC42_000005" "g.22408212T>C" "" "" "" "CDC42(NM_001039802.1):c.106-3T>C (p.?), CDC42(NM_001039802.2):c.106-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22081719T>C" "" "benign" "" "0000624945" "0" "70" "1" "22405038" "22405038" "subst" "0" "01807" "CDC42_000007" "g.22405038T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.22078545T>A" "" "likely pathogenic" "" "0000647595" "1" "90" "1" "22405039" "22405039" "subst" "0" "03575" "CDC42_000008" "g.22405039A>G" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs797044916}" "Germline" "" "rs797044916" "0" "" "" "g.22078546A>G" "" "pathogenic" "" "0000653916" "0" "50" "1" "22405061" "22405061" "subst" "1.22082E-5" "01804" "CDC42_000009" "g.22405061G>A" "" "" "" "CDC42(NM_001039802.1):c.90G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22078568G>A" "" "VUS" "" "0000653917" "0" "30" "1" "22418016" "22418016" "subst" "0" "02330" "CDC42_000010" "g.22418016T>C" "" "" "" "CDC42(NM_001039802.2):c.*6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22091523T>C" "" "likely benign" "" "0000667604" "0" "70" "1" "22405039" "22405039" "subst" "0" "00006" "CDC42_000008" "g.22405039A>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000668091" "0" "90" "1" "22417990" "22417990" "subst" "0" "00006" "CDC42_000011" "g.22417990C>T" "" "{PMID:Lam 2019:31601675}" "" "" "" "De novo" "" "" "0" "" "" "g.22091497C>T" "" "pathogenic (dominant)" "" "0000668092" "0" "90" "1" "22417990" "22417990" "subst" "0" "00006" "CDC42_000011" "g.22417990C>T" "" "{PMID:Lam 2019:31601675}" "" "" "" "De novo" "" "" "0" "" "" "g.22091497C>T" "" "pathogenic (dominant)" "" "0000668093" "0" "90" "1" "22417990" "22417990" "subst" "0" "00006" "CDC42_000011" "g.22417990C>T" "" "{PMID:Lam 2019:31601675}" "" "" "" "De novo" "" "" "0" "" "" "g.22091497C>T" "" "pathogenic (dominant)" "" "0000668094" "0" "90" "1" "22417990" "22417990" "subst" "0" "00006" "CDC42_000011" "g.22417990C>T" "" "{PMID:Lam 2019:31601675}" "" "" "" "De novo" "" "" "0" "" "" "g.22091497C>T" "" "pathogenic (dominant)" "" "0000668097" "0" "90" "1" "22412944" "22412944" "subst" "0" "00006" "CDC42_000001" "g.22412944A>G" "" "{PMID:Takenouchi 2016:26708094}" "" "" "" "De novo" "" "" "0" "" "" "g.22086451A>G" "" "pathogenic (dominant)" "" "0000668098" "0" "90" "1" "22412944" "22412944" "subst" "0" "00006" "CDC42_000001" "g.22412944A>G" "" "{PMID:Takenouchi 2015:26386261}" "" "" "" "De novo" "" "" "0" "" "" "g.22086451A>G" "" "pathogenic (dominant)" "" "0000668103" "0" "90" "1" "22405033" "22405033" "subst" "0" "00006" "CDC42_000013" "g.22405033T>C" "" "{PMID:Martinelli 2018:29394990}" "" "" "ACMG PS2, PM1, PM2, PP2, PP3" "De novo" "" "" "0" "" "" "g.22078540T>C" "" "pathogenic (dominant)" "" "0000668104" "0" "90" "1" "22405039" "22405039" "subst" "0" "00006" "CDC42_000008" "g.22405039A>G" "" "{PMID:Martinelli 2018:29394990}" "" "" "ACMG PS2, PS3" "De novo" "" "" "0" "" "" "g.22078546A>G" "" "pathogenic (dominant)" "" "0000668105" "0" "90" "1" "22412944" "22412944" "subst" "0" "00006" "CDC42_000001" "g.22412944A>G" "" "{PMID:Martinelli 2018:29394990}" "" "" "ACMG PS1, PS2, PS3" "De novo" "" "" "0" "" "" "g.22086451A>G" "" "pathogenic (dominant)" "" "0000668106" "0" "90" "1" "22412949" "22412949" "subst" "0" "00006" "CDC42_000014" "g.22412949A>G" "" "{PMID:Martinelli 2018:29394990}" "" "" "ACMG PS2, PS3" "De novo" "" "" "0" "" "" "g.22086456A>G" "" "pathogenic (dominant)" "" "0000668107" "0" "90" "1" "22412949" "22412949" "subst" "0" "00006" "CDC42_000014" "g.22412949A>G" "" "{PMID:Martinelli 2018:29394990}" "" "" "ACMG PS2, PS3" "De novo" "" "" "0" "" "" "g.22086456A>G" "" "pathogenic (dominant)" "" "0000668108" "0" "90" "1" "22412956" "22412956" "subst" "0" "00006" "CDC42_000015" "g.22412956G>A" "" "{PMID:Martinelli 2018:29394990}" "" "" "ACMG PS2, PS3" "De novo" "" "" "0" "" "" "g.22086463G>A" "" "pathogenic (dominant)" "" "0000668109" "0" "90" "1" "22412956" "22412956" "subst" "0" "00006" "CDC42_000015" "g.22412956G>A" "" "{PMID:Martinelli 2018:29394990}" "" "" "ACMG PS2, PS3" "De novo" "" "" "0" "" "" "g.22086463G>A" "" "pathogenic (dominant)" "" "0000668110" "0" "90" "1" "22412995" "22412995" "subst" "0" "00006" "CDC42_000016" "g.22412995G>T" "" "{PMID:Martinelli 2018:29394990}" "" "" "ACMG PS2, PM1, PM2, PP2, PP3" "De novo" "" "" "0" "" "" "g.22086502G>T" "" "pathogenic (dominant)" "" "0000668111" "0" "90" "1" "22413000" "22413000" "subst" "0" "00006" "CDC42_000017" "g.22413000T>C" "" "{PMID:Martinelli 2018:29394990}" "" "" "ACMG PS2, PS3" "De novo" "" "" "0" "" "" "g.22086507T>C" "" "pathogenic (dominant)" "" "0000668112" "0" "90" "1" "22413000" "22413000" "subst" "0" "00006" "CDC42_000017" "g.22413000T>C" "" "{PMID:Martinelli 2018:29394990}" "" "" "ACMG PS2, PS3" "De novo" "" "" "0" "" "" "g.22086507T>C" "" "pathogenic (dominant)" "" "0000668113" "0" "90" "1" "22413349" "22413349" "subst" "0" "00006" "CDC42_000018" "g.22413349C>T" "" "{PMID:Martinelli 2018:29394990}" "" "" "ACMG PS2, PS3" "De novo" "" "" "0" "" "" "g.22086856C>T" "" "pathogenic (dominant)" "" "0000668114" "0" "90" "1" "22417945" "22417945" "subst" "0" "00006" "CDC42_000019" "g.22417945G>A" "" "{PMID:Martinelli 2018:29394990}" "" "" "ACMG PS2, PS3" "De novo" "" "" "0" "" "" "g.22091452G>A" "" "pathogenic (dominant)" "" "0000668115" "1" "90" "1" "22417945" "22417945" "subst" "0" "00006" "CDC42_000019" "g.22417945G>A" "" "{PMID:Martinelli 2018:29394990}" "" "" "ACMG PS2, PS3" "Germline" "" "" "0" "" "" "g.22091452G>A" "" "pathogenic (dominant)" "" "0000668116" "1" "90" "1" "22417945" "22417945" "subst" "0" "00006" "CDC42_000019" "g.22417945G>A" "" "{PMID:Martinelli 2018:29394990}" "" "" "ACMG PS2, PS3" "Germline" "" "" "0" "" "" "g.22091452G>A" "" "pathogenic (dominant)" "" "0000668117" "1" "90" "1" "22417945" "22417945" "subst" "0" "00006" "CDC42_000019" "g.22417945G>A" "" "{PMID:Martinelli 2018:29394990}" "" "" "ACMG PS2, PS3" "Germline" "" "" "0" "" "" "g.22091452G>A" "" "pathogenic (dominant)" "" "0000668136" "0" "90" "1" "22412944" "22412944" "subst" "0" "00006" "CDC42_000001" "g.22412944A>G" "" "{PMID:Uehara 2019:30872706}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000668137" "0" "90" "1" "22412944" "22412944" "subst" "0" "00006" "CDC42_000001" "g.22412944A>G" "" "{PMID:Bucciol 2020:31953712}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000668138" "0" "90" "1" "22417997" "22417997" "subst" "0" "00006" "CDC42_000012" "g.22417997G>A" "" "{PMID:Gernez 2019:31271789}" "" "" "" "De novo" "" "" "0" "" "" "g.22091504G>A" "" "pathogenic (dominant)" "" "0000668139" "0" "90" "1" "22417997" "22417997" "subst" "0" "00006" "CDC42_000012" "g.22417997G>A" "" "{PMID:Gernez 2019:31271789}" "" "" "" "De novo" "" "" "0" "" "" "g.22091504G>A" "" "pathogenic (dominant)" "" "0000668140" "0" "90" "1" "22417990" "22417990" "subst" "0" "00006" "CDC42_000011" "g.22417990C>T" "" "{PMID:Gernez 2019:31271789}" "" "" "" "De novo" "" "" "0" "" "" "g.22091497C>T" "" "pathogenic (dominant)" "" "0000668141" "0" "90" "1" "22418010" "22418010" "subst" "0" "00006" "CDC42_000002" "g.22418010A>C" "" "{PMID:Gernez 2019:31271789}" "" "" "" "De novo" "" "" "0" "" "" "g.22091517A>C" "" "pathogenic (dominant)" "" "0000857310" "0" "10" "1" "22413029" "22413029" "subst" "0.0012006" "01804" "CDC42_000020" "g.22413029C>T" "" "" "" "CDC42(NM_001039802.1):c.276C>T (p.(Asn92=)), CDC42(NM_001791.4):c.276C>T (p.N92=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857311" "0" "10" "1" "22413335" "22413335" "subst" "0.00467893" "01804" "CDC42_000021" "g.22413335T>C" "" "" "" "CDC42(NM_001039802.1):c.462T>C (p.(Tyr154=)), CDC42(NM_001039802.2):c.462T>C (p.Y154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883169" "0" "10" "1" "22408206" "22408206" "dup" "0" "02330" "CDC42_000022" "g.22408206dup" "" "" "" "CDC42(NM_001039802.2):c.106-9dupT, CDC42(NM_001791.4):c.106-9dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923086" "0" "10" "1" "22413335" "22413335" "subst" "0.00467893" "02330" "CDC42_000021" "g.22413335T>C" "" "" "" "CDC42(NM_001039802.1):c.462T>C (p.(Tyr154=)), CDC42(NM_001039802.2):c.462T>C (p.Y154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928118" "0" "30" "1" "22413029" "22413029" "subst" "0.0012006" "02326" "CDC42_000020" "g.22413029C>T" "" "" "" "CDC42(NM_001039802.1):c.276C>T (p.(Asn92=)), CDC42(NM_001791.4):c.276C>T (p.N92=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947158" "0" "30" "1" "22408212" "22408212" "subst" "0.0155772" "01804" "CDC42_000005" "g.22408212T>C" "" "" "" "CDC42(NM_001039802.1):c.106-3T>C (p.?), CDC42(NM_001039802.2):c.106-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000952250" "0" "70" "1" "22413226" "22413226" "subst" "0" "00006" "CDC42_000006" "g.22413226A>G" "" "{PMID:Imafidon 2021:34136434}" "" "" "" "De novo" "" "" "0" "" "" "g.22086733A>G" "" "VUS" "" "0000973681" "0" "30" "1" "22412561" "22412561" "subst" "0" "01804" "CDC42_000023" "g.22412561A>T" "" "" "" "CDC42(NM_001791.4):c.179-371A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973682" "0" "30" "1" "22417917" "22417917" "subst" "0" "01804" "CDC42_000024" "g.22417917T>A" "" "" "" "CDC42(NM_001791.4):c.487-4T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990874" "0" "50" "1" "22417932" "22417932" "subst" "0" "01804" "CDC42_000025" "g.22417932G>T" "" "" "" "CDC42(NM_001791.3):c.498G>T (p.(Lys166Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031727" "0" "30" "1" "22408206" "22408206" "dup" "0" "01804" "CDC42_000022" "g.22408206dup" "" "" "" "CDC42(NM_001039802.2):c.106-9dupT, CDC42(NM_001791.4):c.106-9dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031728" "0" "30" "1" "22413822" "22413822" "subst" "0" "01804" "CDC42_000026" "g.22413822G>A" "" "" "" "CDC42(NM_001791.4):c.486+463G>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 CDC42 ## Count = 52 "{{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}}" "0000079559" "00024227" "00" "-1838671" "0" "472976" "0" "c.-1838671_*472400del" "r.0?" "p.0?" "" "0000163056" "00024227" "90" "191" "0" "191" "0" "c.191A>G" "r.(?)" "p.(Tyr64Cys)" "5" "0000163057" "00024227" "90" "191" "0" "191" "0" "c.191A>G" "r.(?)" "p.(Tyr64Cys)" "5" "0000163062" "00024227" "90" "191" "0" "191" "0" "c.191A>G" "r.(?)" "p.(Tyr64Cys)" "" "0000505668" "00024227" "50" "107" "0" "107" "0" "c.107T>C" "r.(?)" "p.(Val36Ala)" "" "0000505669" "00024227" "50" "508" "0" "508" "0" "c.508G>A" "r.(?)" "p.(Asp170Asn)" "" "0000605221" "00024227" "50" "353" "0" "353" "0" "c.353A>G" "r.(?)" "p.(Asp118Gly)" "" "0000620527" "00024227" "10" "106" "-3" "106" "-3" "c.106-3T>C" "r.spl?" "p.?" "" "0000624945" "00024227" "70" "67" "0" "67" "0" "c.67T>A" "r.(?)" "p.(Tyr23Asn)" "" "0000647595" "00024227" "90" "68" "0" "68" "0" "c.68A>G" "r.(?)" "p.(Tyr23Cys)" "" "0000653916" "00024227" "50" "90" "0" "90" "0" "c.90G>A" "r.(?)" "p.(Ser30=)" "" "0000653917" "00024227" "30" "582" "0" "582" "0" "c.*6T>C" "r.(=)" "p.(=)" "" "0000667604" "00024227" "70" "68" "0" "68" "0" "c.68A>G" "r.(?)" "p.(Tyr23Cys)" "" "0000668091" "00024227" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Arg186Cys)" "7" "0000668092" "00024227" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Arg186Cys)" "7" "0000668093" "00024227" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Arg186Cys)" "7" "0000668094" "00024227" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Arg186Cys)" "7" "0000668097" "00024227" "90" "191" "0" "191" "0" "c.191A>G" "r.(?)" "p.(Tyr64Cys)" "" "0000668098" "00024227" "90" "191" "0" "191" "0" "c.191A>G" "r.(?)" "p.(Tyr64Cys)" "" "0000668103" "00024227" "90" "62" "0" "62" "0" "c.62T>C" "r.(?)" "p.(Ile21Thr)" "" "0000668104" "00024227" "90" "68" "0" "68" "0" "c.68A>G" "r.(?)" "p.(Tyr23Cys)" "" "0000668105" "00024227" "90" "191" "0" "191" "0" "c.191A>G" "r.(?)" "p.(Tyr64Cys)" "" "0000668106" "00024227" "90" "196" "0" "196" "0" "c.196A>G" "r.(?)" "p.(Arg66Gly)" "" "0000668107" "00024227" "90" "196" "0" "196" "0" "c.196A>G" "r.(?)" "p.(Arg66Gly)" "" "0000668108" "00024227" "90" "203" "0" "203" "0" "c.203G>A" "r.(?)" "p.(Arg68Gln)" "" "0000668109" "00024227" "90" "203" "0" "203" "0" "c.203G>A" "r.(?)" "p.(Arg68Gln)" "" "0000668110" "00024227" "90" "242" "0" "242" "0" "c.242G>T" "r.(?)" "p.(Cys81Phe)" "" "0000668111" "00024227" "90" "247" "0" "247" "0" "c.247T>C" "r.(?)" "p.(Ser83Pro)" "" "0000668112" "00024227" "90" "247" "0" "247" "0" "c.247T>C" "r.(?)" "p.(Ser83Pro)" "" "0000668113" "00024227" "90" "476" "0" "476" "0" "c.476C>T" "r.(?)" "p.(Ala159Val)" "" "0000668114" "00024227" "90" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Glu171Lys)" "" "0000668115" "00024227" "90" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Glu171Lys)" "" "0000668116" "00024227" "90" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Glu171Lys)" "" "0000668117" "00024227" "90" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Glu171Lys)" "" "0000668136" "00024227" "90" "191" "0" "191" "0" "c.191A>G" "r.(?)" "p.(Tyr64Cys)" "" "0000668137" "00024227" "90" "191" "0" "191" "0" "c.191A>G" "r.(?)" "p.(Tyr64Cys)" "" "0000668138" "00024227" "90" "563" "0" "563" "0" "c.563G>A" "r.(?)" "p.(Cys188Tyr)" "" "0000668139" "00024227" "90" "563" "0" "563" "0" "c.563G>A" "r.(?)" "p.(Cys188Tyr)" "" "0000668140" "00024227" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Arg186Cys)" "" "0000668141" "00024227" "90" "576" "0" "576" "0" "c.576A>C" "r.(?)" "p.(*192Cysext*24)" "" "0000857310" "00024227" "10" "276" "0" "276" "0" "c.276C>T" "r.(?)" "p.(Asn92=)" "" "0000857311" "00024227" "10" "462" "0" "462" "0" "c.462T>C" "r.(?)" "p.(Tyr154=)" "" "0000883169" "00024227" "10" "106" "-9" "106" "-9" "c.106-9dup" "r.(=)" "p.(=)" "" "0000923086" "00024227" "10" "462" "0" "462" "0" "c.462T>C" "r.(?)" "p.(Tyr154=)" "" "0000928118" "00024227" "30" "276" "0" "276" "0" "c.276C>T" "r.(?)" "p.(Asn92=)" "" "0000947158" "00024227" "30" "106" "-3" "106" "-3" "c.106-3T>C" "r.spl?" "p.?" "" "0000952250" "00024227" "70" "353" "0" "353" "0" "c.353A>G" "r.(?)" "p.(Asp118Gly)" "" "0000973681" "00024227" "30" "179" "-371" "179" "-371" "c.179-371A>T" "r.(=)" "p.(=)" "" "0000973682" "00024227" "30" "487" "-4" "487" "-4" "c.487-4T>A" "r.spl?" "p.?" "" "0000990874" "00024227" "50" "498" "0" "498" "0" "c.498G>T" "r.(?)" "p.(Lys166Asn)" "" "0001031727" "00024227" "30" "106" "-9" "106" "-9" "c.106-9dup" "r.(=)" "p.(=)" "" "0001031728" "00024227" "30" "486" "463" "486" "463" "c.486+463G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 35 "{{screeningid}}" "{{variantid}}" "0000050579" "0000079559" "0000100704" "0000163056" "0000100705" "0000163057" "0000100709" "0000163062" "0000271089" "0000624945" "0000290906" "0000647595" "0000304191" "0000667604" "0000304610" "0000668091" "0000304611" "0000668092" "0000304612" "0000668093" "0000304613" "0000668094" "0000304616" "0000668097" "0000304617" "0000668098" "0000304620" "0000668103" "0000304621" "0000668104" "0000304622" "0000668105" "0000304623" "0000668106" "0000304624" "0000668107" "0000304625" "0000668108" "0000304626" "0000668109" "0000304627" "0000668110" "0000304628" "0000668111" "0000304629" "0000668112" "0000304630" "0000668113" "0000304631" "0000668114" "0000304632" "0000668115" "0000304633" "0000668116" "0000304634" "0000668117" "0000304644" "0000668136" "0000304645" "0000668137" "0000304646" "0000668138" "0000304647" "0000668139" "0000304648" "0000668140" "0000304649" "0000668141" "0000445336" "0000952250"