### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PPP1R21) # 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}}" "PPP1R21" "protein phosphatase 1, regulatory subunit 21" "2" "p16.3" "unknown" "NC_000002.11" "UD_136090261028" "" "https://www.LOVD.nl/PPP1R21" "" "1" "30595" "129285" "618159" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/PPP1R21_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-11-16 11:58:16" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00025882" "PPP1R21" "transcript variant 1" "002" "NM_001135629.2" "" "NP_001129101.1" "" "" "" "-185" "2991" "2343" "48667908" "48742531" "00006" "2023-11-16 12:00:58" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07045" "NEDHFBA" "neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities" "AR" "619383" "" "" "" "00006" "2023-11-16 11:57:56" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PPP1R21" "05611" "PPP1R21" "07045" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00307927" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:28940097}" "family" "F" "" "" "" "0" "" "" "" "17DG0773" "00441942" "" "" "" "1" "" "00006" "{PMID:Suleiman 2018:29808498}" "" "F" "yes" "United Arab Emirates" "" "0" "" "" "" "Pat1" "00441943" "" "" "" "1" "" "00006" "{PMID:Suleiman 2018:29808498}" "" "M" "" "United Arab Emirates" "" "0" "" "" "" "Pat2" "00441944" "" "" "" "1" "" "00006" "{PMID:Suleiman 2018:29808498}" "" "F" "" "United Arab Emirates" "" "0" "" "" "" "Pat3" "00441945" "" "" "" "4" "" "00006" "{PMID:Rehman 2019:30520571}" "2-generation family, 4 affected sibs (2F, 2M), unaffected heterozygous carrier parents (1st cousins)" "F" "yes" "" "1y" "0" "" "" "" "Fam1PatII5" "00441946" "" "" "00441945" "1" "" "00006" "{PMID:Rehman 2019:30520571}" "sister" "F" "yes" "Syria" "7d" "0" "" "" "" "Fam1PatII6" "00441947" "" "" "" "2" "" "00006" "{PMID:Rehman 2019:30520571}" "2-generation family, 2 affected sibs (2F), unaffected heterozygous carrier parents (1st cousins)" "F" "yes" "Oman" "" "0" "" "" "" "Fam2PatII3" "00441948" "" "" "00441947" "1" "" "00006" "{PMID:Rehman 2019:30520571}" "sister" "F" "yes" "Oman" "" "0" "" "" "" "Fam2PatII4" "00441949" "" "" "" "1" "" "00006" "{PMID:Rehman 2019:30520571}" "5-generation family, 2 affected (2F), unaffected heterozygous carrier parents" "F" "yes" "Iran" "" "0" "" "" "" "Fam3PatV4" "00441950" "" "" "" "1" "" "00006" "{PMID:Rehman 2019:30520571}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam4PatIV1" "00441951" "" "" "" "1" "" "00006" "{PMID:Loddo 2020:32985083}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Italy" "" "0" "" "" "" "patient" "00441952" "" "" "" "1" "" "00006" "{DOI:Ghazi-Nader 2023:10.1186/s43042-023-00444-8}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "yes" "Iran" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00307927" "00139" "00441942" "05611" "00441943" "05611" "00441944" "05611" "00441945" "05611" "00441946" "05611" "00441947" "05611" "00441948" "05611" "00441949" "05611" "00441950" "05611" "00441951" "05611" "00441952" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 05611, 07045 ## Count = 12 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000233350" "00139" "00307927" "00006" "Familial, autosomal recessive" "2y4m" "see paper; ..., gevere global developmental delay; neonatal respiratory distress; dilatation of lateral ventricles; hypotonia; generalized muscle weakness; recurrent respiratory infections; abnormal facial shape; wide nasal bridge; upslanted palpebral fissures; coarse facial features; generalized hirsutism; low-set, posteriorly rotated ears; thick lower lip vermilion; high, narrow palate; hepatomegaly; myopia; rotatory nystagmus; areflexia; abnormal CNS myelination; cavum septum pellucidum; enlarged cisterna magna" "" "" "" "" "" "" "" "" "intellectual diability" "0000331325" "05611" "00441942" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., developmental delay; hypotonia; weakness; hyporelexia; rotatory nystagmus; poor feeding; respiratory distress/failure; respiratory infections; hepatomegaly; myopia; no scoliosis; no contractures; no microcephaly; no short stature; no underweight; thick eyebrows; hypertelorism; upslanted palpebral fissures; no epicanthus; broad nasal bridge; short nose; upturned nasal tip; broad low-hanging columella; thick lips; high-arched palate; low-set ears; coarse facies; excessive facial hair; flat occiput; MRI brain cerebellar vermis hypoplasia, ventricular dilatation, prominent CSF spaces, reduced white matter volume, hypoplastic corpus callosum, cavum septum pellucidum" "" "" "" "" "" "" "" "" "neurodevelopmental dealy" "0000331326" "05611" "00441943" "00006" "Familial, autosomal recessive" "2y" "see paper; ..., developmental delay; hypotonia; weakness; hyporelexia; rotatory nystagmus; poor feeding; respiratory distress/failure; respiratory infections; no hepatomegaly; no myopia; no scoliosis; no contractures; no microcephaly; no short stature; no underweight; thick eyebrows; hypertelorism; no upslanted palpebral fissures; epicanthus; broad nasal bridge; short nose; upturned nasal tip; broad low-hanging columella; no thick lips; high-arched palate; low-set ears; coarse facies; excessive facial hair; flat occiput; MRI brain cerebellar vermis hypoplasia, ventricular dilatation, prominent CSF spaces, reduced white matter volume, hypoplastic corpus callosum, cavum septum pellucidum" "" "" "" "" "" "" "" "" "neurodevelopmental dealy" "0000331327" "05611" "00441944" "00006" "Familial, autosomal recessive" "11y" "see paper; ..., developmental delay; hypotonia; weakness; hyporelexia; no rotatory nystagmus; no poor feeding; no respiratory distress/failure; no respiratory infections; no hepatomegaly; no myopia; scoliosis; contractures; microcephaly; short stature; underweight; no thick eyebrows; no hypertelorism; no upslanted palpebral fissures; no epicanthus; no broad nasal bridge; short nose; upturned nasal tip; broad low-hanging columella; no thick lips; high-arched palate; no low-set ears; coarse facies; no excessive facial hair; no flat occiput; MRI brain cerebellar vermis hypoplasia, ventricular dilatation, prominent CSF spaces, reduced white matter volume, no hypoplastic corpus callosum, no cavum septum pellucidum" "" "" "" "" "" "" "" "" "neurodevelopmental dealy" "0000331328" "05611" "00441945" "00006" "Familial, autosomal recessive" "1y" "see paper; ..., 1y-deceased; high forehead, high eye brows, high arch palate, tented mouth; severe global developmental delay; generalized hypotonia, weak cry, swallowing problems, absent dtrs; irregular outline to prominent bodies of both lateral ventricles with abnormal periventricular T2 hyperintensity, generous extra‐axial csf spaces with bilateral and symmetric underopercularization, foreshortening and thinning of corpus callosum; hypertrophic cardiomyopathy; difficulty breathing and choking at 1 month of age, recurrent respiratory infections, laryngomalacia; feeding difficulties, constipation, distended abdomen, failure to thrive, hepatosplenomegaly; delayed fontanel closure; optic atrophy, esotropia; strawberry hematoma of right knee" "" "" "" "" "" "" "" "" "neurodevelopmental dealy" "0000331329" "05611" "00441946" "00006" "Familial, autosomal recessive" "7d" "see paper; ..., 7d-deceased; skull asymmetry, high forehead, flat orbital ridges, hypertelorism, low set ears, high‐arched palate, small chin, small thorax; severe central hypotonia, poor suck, weak cry.; not available; mild left pulmonary stenosis, atrial septal defect secundum; 3w-NICUfor respiratory distress; feeding difficulties, constipation, distended abdomen; small thoracic cage, arched back, clenched hands, bilateral overlapping of fingers and toes; minimal vision, esotropia" "" "" "" "" "" "" "" "" "neurodevelopmental dealy" "0000331330" "05611" "00441947" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., high forehead, bitemporal narrowing, coarse features, telecanthus, blue sclerae, prominent nasal bridge, low set ears, long philtrum; severe global developmental delay; hypotonia, attention deficit, dysarthria, clumsy/ataxic gait; slight prominence to the supratentorial ventricular system with increased T2 hyperintensity returned from the bilateral posterior centra semiovale, cavum septum pellucidum; atrial septal defect; no respiratory problems; feeding difficulties; delayed bone age, scoliosis, pectus carinatum; esotropia, telecanthus, blueish sclerae; dental caries" "" "" "" "" "" "" "" "" "neurodevelopmental dealy" "0000331331" "05611" "00441948" "00006" "Familial, autosomal recessive" "4y" "see paper; ..., high forehead, bitemporal narrowing, coarse features, telecanthus, blue sclerae, prominent nasal bridge, low set ears, long philtrum; severe global developmental delay; hypotonia, attention deficit, dysarthria, clumsy/ataxic gait; irregular outline to the bodies of both lateral ventricles in addition to the increased T2 hyperintensity returned from the periventricular white matter, thinning and foreshortening of the body of the corpus callosum, cavum septum pellucidum; no cardiac anomalies; no respiratory problems; feeding difficulties; delayed bone age, scoliosis, pectus carinatum; esotropia, telecanthus, blueish sclerae; dental caries, myoclonic epilepsy" "" "" "" "" "" "" "" "" "neurodevelopmental dealy" "0000331332" "05611" "00441949" "00006" "Familial, autosomal recessive" "2y" "see paper; ..., slightly coarse features, low set ears, increased facial hair; severe global developmental delay; hypotonia, no sitting or walking; prominence to the bodies of the lateral ventricles with generous extra‐axial csf spaces with bilateral and symmetric underopercularization, thinning and foreshortening of the corpus callosum; no cardiac anomalies; respiratory distress, recurrent respiratory infections; hepatosplenomegaly; no skeletal findings; optic atrophy, reduced visus, strabismus; hypothyroidism" "" "" "" "" "" "" "" "" "neurodevelopmental dealy" "0000331333" "05611" "00441950" "00006" "Familial, autosomal recessive" "1y4m" "see paper; ..., plagiocephaly, slightly coarse features; severe global developmental delay; hypotonia, not sitting or walking; reduction in the volume of deep white matter with abnormal signal; reduction in brainstem and vermian volume; dysmorphic corpus callosum and brainstem; no cardiac anomalies; admitted to picu for respiratory support following episode of decreased consciousness and hypothermia; feeding difficulties; no skeletal findings; no ophthalmologic findings; undescended testes" "" "" "" "" "" "" "" "" "neurodevelopmental dealy" "0000331334" "05611" "00441951" "00006" "Familial, autosomal recessive" "27y" "see paper; ..., intellectual disability, short stature, congenital ataxia with cerebellar vermis hypoplasia, generalized hypertrichosis, ulcerative keratitis, muscle weakness, progressive coarse appearance, macroglossia with fissured tongue, deep palmar and plantar creases" "" "" "" "" "" "" "" "NEDHFBA" "neurodevelopmental delay" "0000331335" "05611" "00441952" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe developmental delays, intellectual disability, facial deformities, muscle weakness, difficulty breathing and feeding, vision impairment." "" "" "" "" "" "" "" "NEDHFBA" "neurodevelopmental delay" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000309071" "00307927" "1" "00006" "00006" "2020-08-23 12:07:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443427" "00441942" "1" "00006" "00006" "2023-11-16 13:17:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443428" "00441943" "1" "00006" "00006" "2023-11-16 13:17:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443429" "00441944" "1" "00006" "00006" "2023-11-16 13:17:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443430" "00441945" "1" "00006" "00006" "2023-11-16 13:17:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443431" "00441946" "1" "00006" "00006" "2023-11-16 13:17:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443432" "00441947" "1" "00006" "00006" "2023-11-16 13:17:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443433" "00441948" "1" "00006" "00006" "2023-11-16 13:17:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443434" "00441949" "1" "00006" "00006" "2023-11-16 13:17:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443435" "00441950" "1" "00006" "00006" "2023-11-16 13:17:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443436" "00441951" "1" "00006" "00006" "2023-11-16 13:22:52" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000443437" "00441952" "1" "00006" "00006" "2023-11-16 13:30:03" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000309071" "PPP1R21" ## 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 = 33 "{{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}}" "0000516400" "0" "50" "2" "48698482" "48698482" "subst" "0" "02329" "PPP1R21_000001" "g.48698482A>G" "" "" "" "PPP1R21(NM_001135629.3):c.1064A>G (p.K355R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48471343A>G" "" "VUS" "" "0000516401" "0" "50" "2" "48707062" "48707062" "subst" "2.84585E-5" "02329" "PPP1R21_000002" "g.48707062G>C" "" "" "" "PPP1R21(NM_001135629.3):c.1226-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48479923G>C" "" "VUS" "" "0000683533" "3" "70" "2" "48737157" "48737157" "subst" "0" "00006" "PPP1R21_000003" "g.48737157C>T" "" "{PMID:Anazi 2017:28940097}" "" "NM_001135629.2:c.2089C>T" "" "Germline" "yes" "" "0" "" "" "g.48510018C>T" "" "likely pathogenic (recessive)" "" "0000800738" "0" "50" "2" "48687046" "48687046" "subst" "0" "02325" "PPP1R21_000004" "g.48687046G>A" "" "" "" "PPP1R21(NM_001135629.3):c.529G>A (p.A177T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800739" "0" "50" "2" "48718253" "48718253" "subst" "0.000324987" "02325" "PPP1R21_000005" "g.48718253G>A" "" "" "" "PPP1R21(NM_001135629.3):c.1543G>A (p.E515K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000829418" "0" "50" "2" "27600408" "62081181" "dup" "0" "00000" "FSHR_000025" "g.27600408_62081181dup" "" "{PMID:Ellingsford 2018:29074561}" "" "chr2:27600408–62081181" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000885338" "0" "50" "2" "48734504" "48734504" "subst" "0" "02325" "PPP1R21_000006" "g.48734504T>C" "" "" "" "PPP1R21(NM_001135629.3):c.2065T>C (p.S689P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911764" "0" "50" "2" "48681744" "48681744" "subst" "3.24989E-5" "02325" "PPP1R21_000007" "g.48681744A>G" "" "" "" "PPP1R21(NM_001135629.3):c.137A>G (p.K46R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000944877" "3" "90" "2" "48737157" "48737157" "subst" "0" "00006" "PPP1R21_000003" "g.48737157C>T" "" "{PMID:Suleiman 2018:29808498}" "" "" "" "Germline" "" "" "0" "" "" "g.48510018C>T" "" "pathogenic (recessive)" "" "0000944878" "3" "90" "2" "48686944" "48686944" "subst" "4.0621E-6" "00006" "PPP1R21_000011" "g.48686944C>T" "" "{PMID:Suleiman 2018:29808498}" "" "" "" "Germline" "" "" "0" "" "" "g.48459805C>T" "" "pathogenic (recessive)" "" "0000944879" "3" "90" "2" "48678176" "48678177" "del" "0" "00006" "PPP1R21_000010" "g.48678176_48678177del" "" "{PMID:Suleiman 2018:29808498}" "" "87_88delAG" "" "Germline" "" "" "0" "" "" "g.48451037_48451038del" "" "pathogenic (recessive)" "" "0000944880" "3" "90" "2" "48685338" "48685338" "del" "0" "00006" "PPP1R21_000003" "g.48685338del" "" "{PMID:Rehman 2019:30520571}" "" "347delT" "" "Germline" "" "" "0" "" "" "g.48458199del" "" "pathogenic (recessive)" "" "0000944881" "3" "90" "2" "48685338" "48685338" "del" "0" "00006" "PPP1R21_000003" "g.48685338del" "" "{PMID:Rehman 2019:30520571}" "" "347delT" "" "Germline" "" "" "0" "" "" "g.48458199del" "" "pathogenic (recessive)" "" "0000944882" "3" "90" "2" "48737238" "48737239" "ins" "0" "00006" "PPP1R21_000014" "g.48737238_48737239insGGTA" "" "{PMID:Rehman 2019:30520571}" "" "2170_2171insGGTA" "" "Germline" "" "" "0" "" "" "g.48510099_48510100insGGTA" "" "pathogenic (recessive)" "" "0000944883" "3" "90" "2" "48737238" "48737239" "ins" "0" "00006" "PPP1R21_000014" "g.48737238_48737239insGGTA" "" "{PMID:Rehman 2019:30520571}" "" "2170_2171insGGTA" "" "Germline" "" "" "0" "" "" "g.48510099_48510100insGGTA" "" "pathogenic (recessive)" "" "0000944884" "3" "90" "2" "48722825" "48722825" "dup" "0" "00006" "PPP1R21_000012" "g.48722825dup" "" "{PMID:Rehman 2019:30520571}" "" "1607dupT" "" "Germline" "" "" "0" "" "" "g.48495686dup" "" "pathogenic (recessive)" "" "0000944885" "3" "90" "2" "48734502" "48734502" "del" "0" "00006" "PPP1R21_000013" "g.48734502del" "" "{PMID:Rehman 2019:30520571}" "" "2063delA" "" "Germline" "" "" "0" "" "" "g.48507363del" "" "pathogenic (recessive)" "" "0000944886" "3" "90" "2" "48681800" "48681800" "subst" "0" "00006" "PPP1R21_000008" "g.48681800C>T" "" "{PMID:Loddo 2020:32985083}" "" "" "" "Germline" "" "" "0" "" "" "g.48454661C>T" "" "pathogenic (recessive)" "" "0000944887" "3" "90" "2" "48707154" "48707155" "del" "0" "00006" "PPP1R21_000009" "g.48707154_48707155del" "" "{DOI:Ghazi-Nader 2023:10.1186/s43042-023-00444-8}" "" "1317_1318delAG" "" "Germline" "" "" "0" "" "" "g.48480015_48480016del" "" "pathogenic (recessive)" "" "0000947943" "0" "50" "2" "48686998" "48686998" "subst" "8.12295E-6" "02325" "PPP1R21_000015" "g.48686998C>T" "" "" "" "PPP1R21(NM_001135629.3):c.481C>T (p.L161F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947944" "0" "50" "2" "48688285" "48688285" "subst" "9.65521E-6" "02325" "PPP1R21_000016" "g.48688285A>T" "" "" "" "PPP1R21(NM_001135629.3):c.608A>T (p.Q203L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975352" "0" "50" "2" "48701850" "48701850" "subst" "2.05469E-5" "01804" "PPP1R21_000017" "g.48701850T>C" "" "" "" "PPP1R21(NM_001135629.3):c.1117T>C (p.(Cys373Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975353" "0" "50" "2" "48722891" "48722891" "subst" "8.12434E-6" "01804" "PPP1R21_000018" "g.48722891G>A" "" "" "" "PPP1R21(NM_001135629.3):c.1673G>A (p.(Arg558Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992934" "0" "30" "2" "48681849" "48681849" "subst" "0.000174653" "01804" "PPP1R21_000019" "g.48681849C>T" "" "" "" "PPP1R21(NM_001135629.2):c.242C>T (p.(Ala81Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992935" "0" "50" "2" "48685353" "48685353" "subst" "8.14498E-6" "01804" "PPP1R21_000020" "g.48685353G>A" "" "" "" "PPP1R21(NM_001135629.2):c.362G>A (p.(Arg121Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992936" "0" "50" "2" "48718179" "48718179" "subst" "0.000113749" "01804" "PPP1R21_000021" "g.48718179A>G" "" "" "" "PPP1R21(NM_001135629.2):c.1469A>G (p.(Asn490Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992937" "0" "30" "2" "48718209" "48718209" "subst" "0.000784062" "01804" "PPP1R21_000022" "g.48718209A>G" "" "" "" "PPP1R21(NM_001135629.2):c.1499A>G (p.(Tyr500Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033396" "0" "50" "2" "48685283" "48685285" "del" "0" "01804" "PPP1R21_000023" "g.48685283_48685285del" "" "" "" "PPP1R21(NM_001135629.3):c.292_294del (p.(Ser98del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033397" "0" "30" "2" "48688272" "48688272" "del" "0" "01804" "PPP1R21_000024" "g.48688272del" "" "" "" "PPP1R21(NM_001135629.3):c.600-5del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033398" "0" "50" "2" "48718158" "48718158" "subst" "5.68759E-5" "01804" "PPP1R21_000025" "g.48718158T>G" "" "" "" "PPP1R21(NM_001135629.3):c.1448T>G (p.(Ile483Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050654" "0" "50" "2" "48692073" "48692073" "subst" "0" "01804" "PPP1R21_000026" "g.48692073T>C" "" "" "" "PPP1R21(NM_001135629.3):c.695-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050655" "0" "50" "2" "48701880" "48701880" "subst" "1.63079E-5" "01804" "PPP1R21_000027" "g.48701880G>C" "" "" "" "PPP1R21(NM_001135629.3):c.1147G>C (p.(Glu383Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050656" "0" "30" "2" "48737257" "48737257" "subst" "6.98456E-5" "01804" "PPP1R21_000028" "g.48737257G>A" "" "" "" "PPP1R21(NM_001135629.3):c.2184+5G>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 PPP1R21 ## Count = 33 "{{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}}" "0000516400" "00025882" "50" "1064" "0" "1064" "0" "c.1064A>G" "r.(?)" "p.(Lys355Arg)" "" "0000516401" "00025882" "50" "1226" "-1" "1226" "-1" "c.1226-1G>C" "r.spl?" "p.?" "" "0000683533" "00025882" "70" "2089" "0" "2089" "0" "c.2089C>T" "r.(?)" "p.(Arg697Ter)" "" "0000800738" "00025882" "50" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Ala177Thr)" "" "0000800739" "00025882" "50" "1543" "0" "1543" "0" "c.1543G>A" "r.(?)" "p.(Glu515Lys)" "" "0000829418" "00025882" "50" "-8388608" "0" "8388607" "0" "c.-21067685_*13339298dup" "r.0?" "p.0?" "" "0000885338" "00025882" "50" "2065" "0" "2065" "0" "c.2065T>C" "r.(?)" "p.(Ser689Pro)" "" "0000911764" "00025882" "50" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Lys46Arg)" "" "0000944877" "00025882" "90" "2089" "0" "2089" "0" "c.2089C>T" "r.(?)" "p.(Arg697Ter)" "" "0000944878" "00025882" "90" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143Ter)" "" "0000944879" "00025882" "90" "87" "0" "88" "0" "c.87_88del" "r.(?)" "p.(Gly30CysfsTer4)" "" "0000944880" "00025882" "90" "2089" "0" "2089" "0" "c.2089C>T" "r.(?)" "p.(Ile116LysfsTer25)" "" "0000944881" "00025882" "90" "347" "0" "347" "0" "c.347del" "r.(?)" "p.(Ile116LysfsTer25)" "" "0000944882" "00025882" "90" "2170" "0" "2171" "0" "c.2170_2171insGGTA" "r.(?)" "p.(Ile724ArgfsTer8)" "" "0000944883" "00025882" "90" "2170" "0" "2171" "0" "c.2170_2171insGGTA" "r.(?)" "p.(Ile724ArgfsTer8)" "" "0000944884" "00025882" "90" "1607" "0" "1607" "0" "c.1607dup" "r.(?)" "p.(Leu536PhefsTer7)" "" "0000944885" "00025882" "90" "2063" "0" "2063" "0" "c.2063del" "r.(?)" "p.(Lys688SerfsTer26)" "" "0000944886" "00025882" "90" "193" "0" "193" "0" "c.193C>T" "r.(?)" "p.(Arg65*)" "" "0000944887" "00025882" "90" "1317" "0" "1318" "0" "c.1317_1318del" "r.(?)" "p.(Asp440Tyrfs*6)" "" "0000947943" "00025882" "50" "481" "0" "481" "0" "c.481C>T" "r.(?)" "p.(Leu161Phe)" "" "0000947944" "00025882" "50" "608" "0" "608" "0" "c.608A>T" "r.(?)" "p.(Gln203Leu)" "" "0000975352" "00025882" "50" "1117" "0" "1117" "0" "c.1117T>C" "r.(?)" "p.(Cys373Arg)" "" "0000975353" "00025882" "50" "1673" "0" "1673" "0" "c.1673G>A" "r.(?)" "p.(Arg558Gln)" "" "0000992934" "00025882" "30" "242" "0" "242" "0" "c.242C>T" "r.(?)" "p.(Ala81Val)" "" "0000992935" "00025882" "50" "362" "0" "362" "0" "c.362G>A" "r.(?)" "p.(Arg121Gln)" "" "0000992936" "00025882" "50" "1469" "0" "1469" "0" "c.1469A>G" "r.(?)" "p.(Asn490Ser)" "" "0000992937" "00025882" "30" "1499" "0" "1499" "0" "c.1499A>G" "r.(?)" "p.(Tyr500Cys)" "" "0001033396" "00025882" "50" "292" "0" "294" "0" "c.292_294del" "r.(?)" "p.(Ser98del)" "" "0001033397" "00025882" "30" "600" "-5" "600" "-5" "c.600-5del" "r.spl?" "p.?" "" "0001033398" "00025882" "50" "1448" "0" "1448" "0" "c.1448T>G" "r.(?)" "p.(Ile483Ser)" "" "0001050654" "00025882" "50" "695" "-3" "695" "-3" "c.695-3T>C" "r.spl?" "p.?" "" "0001050655" "00025882" "50" "1147" "0" "1147" "0" "c.1147G>C" "r.(?)" "p.(Glu383Gln)" "" "0001050656" "00025882" "30" "2184" "5" "2184" "5" "c.2184+5G>A" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000309071" "0000683533" "0000443427" "0000944877" "0000443428" "0000944878" "0000443429" "0000944879" "0000443430" "0000944880" "0000443431" "0000944881" "0000443432" "0000944882" "0000443433" "0000944883" "0000443434" "0000944884" "0000443435" "0000944885" "0000443436" "0000944886" "0000443437" "0000944887"