### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CDKN1C) # 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}}" "CDKN1C" "cyclin-dependent kinase inhibitor 1C (p57, Kip2)" "11" "p15.5" "paternal" "NG_008022.1" "UD_132085382243" "" "https://www.LOVD.nl/CDKN1C" "" "1" "1786" "1028" "600856" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/CDKN1C_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-01-22 19:12:16" "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}}" "00004875" "CDKN1C" "transcript variant 1" "003" "NM_000076.2" "" "NP_000067.1" "" "" "" "-276" "1654" "951" "2906995" "2904448" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00231" "BWS" "Beckwith-Wiedemann syndrome (BWS)" "AD" "130650" "" "" "" "00006" "2013-10-09 19:27:53" "00006" "2021-12-10 21:51:32" "00232" "SRS;RSS" "Silver-Russell syndrome (SRS, Russell-Silver syndrome (RSS))" "AD" "180860" "" "" "" "00006" "2013-10-09 19:30:21" "00006" "2021-12-10 21:51:32" "00243" "IMAGE" "intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies (IMAGE)" "AD" "614732" "" "" "" "00006" "2013-10-11 21:49:54" "00006" "2021-12-10 21:51:32" "00332" "CILD" "dyskinesia, ciliary, primary (CILD)" "" "" "" "" "" "00006" "2014-02-21 12:58:05" "00006" "2015-03-31 17:58:20" "05093" "cancer" "cancer" "" "" "" "" "" "00006" "2015-10-23 13:34:05" "" "" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "CDKN1C" "00139" "CDKN1C" "00231" "CDKN1C" "00232" "CDKN1C" "00243" ## Individuals ## Do not remove or alter this header ## ## Count = 73 "{{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}}" "00016430" "" "" "" "9" "" "00150" "{PMID:Brioude 2013:24065356}" "4-generation family, 9 affecteds (9F), patient IV1" "F" "" "France" "" "0" "" "growth hormone therapy" "" "24065356-FamPatIV1" "00016433" "" "" "" "1" "" "00150" "{PMID:Hamajima 2013:24098681}" "" "" "?" "" "" "" "" "" "?" "" "00016434" "" "" "" "1" "" "00150" "{PMID:Arboleda 2012:22634751}" "" "" "?" "" "" "" "" "" "?" "" "00016435" "" "" "" "1" "" "00150" "{PMID:Arboleda 2012:22634751}" "" "" "?" "" "" "" "" "" "?" "" "00016436" "" "" "" "1" "" "00150" "{PMID:Arboleda 2012:22634751}" "" "" "?" "" "" "" "" "" "?" "" "00016437" "" "" "" "1" "" "00150" "{PMID:Arboleda 2012:22634751}" "" "" "?" "" "" "" "" "" "?" "" "00016438" "" "" "" "1" "" "00150" "{PMID:Arboleda 2012:22634751}" "" "" "?" "" "" "" "" "" "?" "" "00016439" "" "" "" "1" "" "00150" "{PMID:Romanelli 2010:20503313}" "" "" "?" "" "" "" "" "" "?" "" "00016440" "" "" "" "1" "" "00150" "{PMID:Romanelli 2010:20503313}" "" "" "?" "" "" "" "" "" "?" "" "00016441" "" "" "" "1" "" "00150" "{PMID:Engel 2000:11106355}" "" "" "?" "" "" "0" "" "" "?" "" "00016442" "" "" "" "1" "" "00150" "{PMID:Lee 1997:9311734}" "" "" "?" "" "" "" "" "" "?" "" "00016443" "" "" "" "1" "" "00150" "{PMID:Li 2001:1141475}" "" "" "?" "" "" "" "" "" "?" "" "00016444" "" "" "" "1" "" "00150" "{PMID:Hatada 1996:8841187}" "" "" "?" "" "" "" "" "" "?" "" "00016445" "" "" "" "1" "" "00150" "{PMID:Li 2001:1141475}" "" "" "?" "" "" "" "" "" "?" "" "00016446" "" "" "" "1" "" "00150" "{DOI:Yatsuki 2013:10.1007/s13258-013-0079-3}" "" "" "?" "" "" "" "" "" "?" "" "00016447" "" "" "" "1" "" "00150" "{PMID:O’Keefe 1997:9311733}" "" "" "?" "" "" "" "" "" "?" "" "00016448" "" "" "" "1" "" "00150" "{PMID:Welsh 2011:22140035}" "" "" "?" "" "" "" "" "" "?" "" "00016449" "" "" "" "1" "" "00150" "{PMID:Lam 1999:1042481}" "" "" "?" "" "" "" "" "" "?" "" "00016450" "" "" "" "1" "" "00150" "{PMID:Romanelli 2009:19386358}" "" "" "?" "" "" "0" "" "" "?" "" "00016451" "" "" "" "1" "" "00150" "{DOI:Yatsuki 2013:10.1007/s13258-013-0079-3}" "" "" "?" "" "" "" "" "" "?" "" "00016452" "" "" "" "1" "" "00150" "{PMID:Hatada 1997:9341892}" "" "" "?" "" "" "" "" "" "?" "" "00016453" "" "" "" "1" "" "00150" "{PMID:Engel 2000:11106355}" "" "" "?" "" "" "0" "" "" "?" "" "00016454" "" "" "" "1" "" "00150" "{DOI:Yatsuki 2013:10.1007/s13258-013-0079-3}" "" "" "?" "" "" "" "" "" "?" "" "00016455" "" "" "" "1" "" "00150" "{PMID:Lee 1997:9311734}" "" "" "?" "" "" "" "" "" "?" "" "00016456" "" "" "" "1" "" "00150" "{PMID:Lam 1999:1042481}" "" "" "?" "" "" "" "" "" "?" "" "00016457" "" "" "" "1" "" "00150" "{PMID:Kantaputra 2012:23197429}" "" "" "?" "" "" "" "" "" "?" "" "00016458" "" "" "" "1" "" "00150" "{PMID:Romanelli 2010:20503313}" "" "" "?" "" "" "" "" "" "?" "" "00016459" "" "" "" "1" "" "00150" "{DOI:Yatsuki 2013:10.1007/s13258-013-0079-3}" "" "" "?" "" "" "" "" "" "?" "" "00016460" "" "" "" "1" "" "00150" "{PMID:Li 2001:1141475}" "" "" "?" "" "" "" "" "" "?" "" "00016461" "" "" "" "1" "" "00150" "{PMID:Li 2001:1141475}, {DOI:Yatsuki 2013:10.1007/s13258-013-0079-3}" "" "" "?" "" "" "" "" "" "?" "" "00016462" "" "" "" "1" "" "00150" "{PMID:Hatada 1997:9341892}" "" "" "?" "" "" "" "" "" "?" "" "00016463" "" "" "" "1" "" "00150" "{PMID:Eggermann 2014:24658748}" "" "" "?" "" "" "" "" "" "?" "" "00016464" "" "" "" "1" "" "00150" "{PMID:Li 2001:1141475}" "" "" "?" "" "" "" "" "" "?" "" "00016465" "" "" "" "1" "" "00150" "{PMID:Lam 1999:1042481}" "" "" "?" "" "" "" "" "" "?" "" "00016466" "" "" "" "1" "" "00150" "{PMID:Romanelli 2010:20503313}" "" "" "?" "" "" "" "" "" "?" "" "00016467" "" "" "" "1" "" "00150" "{PMID:Hatada 1996:8841187}" "" "" "?" "" "" "" "" "" "?" "" "00016468" "" "" "" "1" "" "00150" "{PMID:Lam 1999:1042481}" "" "" "?" "" "" "" "" "" "?" "" "00016469" "" "" "" "1" "" "00150" "{PMID:Lam 1999:1042481}, {PMID:Romanelli 2010:20503313}" "" "" "?" "" "" "" "" "" "?" "" "00016470" "" "" "" "1" "" "00150" "{PMID:Romanelli 2010:20503313}" "" "" "?" "" "" "" "" "" "?" "" "00016471" "" "" "" "1" "" "00150" "{PMID:Romanelli 2010:20503313}" "" "" "?" "" "" "" "" "" "?" "" "00016472" "" "" "" "1" "" "00150" "{PMID:Lam 1999:1042481}" "" "" "?" "" "" "" "" "" "?" "" "00016473" "" "" "" "1" "" "00006" "{PMID:Percesepe 2008:18395877}" "mother (38y) referred for prenatal counselling due to diagnosis of recurrent omphalocele at 14w pregnancy; 20w therapeutical abortion\r\n2y previously (ultrasonographic diagnosis massive omphalocele (6 cm diameter));\r\n3 earlier spontaneous abortions, all 6w\r\npregnancy, healthy 5y son" "M" "no" "Italy" "" "0" "" "" "" "" "00016474" "" "" "" "1" "" "00006" "{PMID:Aleck 1989:2764022}, {PMID:Lew 2004:15150778}" "4-generation family, 5 affecteds (2F, 3M), 4 unaffected carriers (4F)" "M" "no" "Canada" "" "0" "" "" "" "" "00016475" "" "" "" "23" "" "00006" "{PMID:Tokino:8655143}" "" "-" "-" "Japan" "" "0" "" "" "" "" "00016476" "" "" "" "2" "" "00006" "" "2 cases" "" "" "Japan" "" "0" "" "" "" "" "00016477" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00016478" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" "" "00017598" "" "" "" "2" "" "00006" "{PMID:Casey 2014:24824133}" "4-generation family, 2 affecteds (brothers), unaffected heterozygous carrier parents and 4 relatives" "M" "yes" "Ireland" "" "0" "" "" "Irish Traveller" "" "00029770" "" "" "" "2" "" "01227" "" "" "" "" "Italy" "" "0" "" "" "" "" "00029837" "" "" "" "1" "" "01227" "" "" "" "no" "Italy" "" "0" "" "" "" "" "00029838" "" "" "" "1" "" "01227" "" "" "" "" "Italy" "" "0" "" "" "" "" "00029840" "" "" "" "1" "" "01227" "" "" "" "" "Italy" "" "0" "" "" "" "" "00032383" "" "" "" "1" "" "01227" "" "" "" "" "Italy" "" "0" "" "" "" "" "00032384" "" "" "" "1" "" "01227" "" "" "" "" "Italy" "" "0" "" "" "" "" "00032385" "" "" "" "1" "" "01227" "" "" "" "" "Italy" "" "0" "" "" "" "" "00032386" "" "" "" "1" "" "01227" "" "" "" "" "Italy" "" "0" "" "" "" "" "00032387" "" "" "" "1" "" "01227" "Russo, unpublished" "" "" "" "Italy" "" "0" "" "" "" "" "00032395" "" "" "" "1" "" "01227" "" "" "" "" "Italy" "" "0" "" "" "" "" "00032396" "" "" "" "1" "" "01227" "" "" "" "" "Italy" "" "0" "" "" "" "" "00035163" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035164" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00080083" "" "" "" "1" "" "01594" "{PMID:Hu 2013:23225375}, {PMID:Fokstuen 2013:24664587}, for EUCID-SRS consortium" "mother has balanced complex translocation" "F" "" "" "" "0" "" "" "" "23225375-Pat" "00080084" "" "" "" "1" "" "01594" "{PMID:South 2008:18798325}, {PMID:Fokstuen 2013:24664587}, for EUCID-SRS consortium" "" "F" "" "" "" "0" "" "" "" "18798325-Pat2" "00080085" "" "" "" "1" "" "01594" "{PMID:Bliek 2009:19735747}, {PMID:Begemann 2012:22844132}, {PMID:Fokstuen 2013:24664587}, {PMID:Brown 2014:24668696}, for EUCID-SRS consortium" "" "F" "" "" "" "0" "" "" "" "19735747-PatAII3" "00117203" "" "" "00016430" "1" "" "01594" "{PMID:Brioude 2013:24065356}, for EUCID-SRS consortium" "" "F" "" "France" "" "0" "" "" "" "24065356-FamPatIII6" "00117204" "" "" "00016430" "1" "" "01594" "{PMID:Brioude 2013:24065356}, for EUCID-SRS consortium" "" "F" "" "France" "" "0" "" "" "" "24065356-FamPatIII4" "00117205" "" "" "00016430" "1" "" "01594" "{PMID:Brioude 2013:24065356}, for EUCID-SRS consortium" "" "F" "" "France" "" "0" "" "" "" "24065356-FamPatII1" "00266479" "" "" "" "1" "" "02337" "" "" "" "" "Argentina" "" "0" "" "" "Argentina" "" "00276033" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00290376" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00316140" "" "" "" "1" "" "00006" "{PMID:Heidet 2017:28566479}" "" "" "" "France" "" "0" "" "" "" "K2" "00399727" "" "" "" "1" "" "00006" "{PMID:Berland 2022:33443097}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "Norway" "" "0" "" "" "" "patient" "00443819" "" "" "" "1" "" "00006" "{PMID:Imafidon 2021:34136434}" "prenatal indication abnormal ultrasound" "F" "" "Netherlands" "" "0" "" "" "" "Pat671" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 71 "{{individualid}}" "{{diseaseid}}" "00016430" "00232" "00016433" "00243" "00016434" "00243" "00016435" "00243" "00016436" "00243" "00016437" "00243" "00016438" "00243" "00016439" "00231" "00016440" "00231" "00016441" "00231" "00016442" "00231" "00016443" "00231" "00016444" "00231" "00016445" "00231" "00016446" "00231" "00016447" "00231" "00016448" "00231" "00016449" "00231" "00016450" "00231" "00016451" "00231" "00016452" "00231" "00016453" "00231" "00016454" "00231" "00016455" "00231" "00016456" "00231" "00016457" "00231" "00016458" "00231" "00016459" "00231" "00016460" "00231" "00016461" "00231" "00016462" "00231" "00016463" "00231" "00016464" "00231" "00016465" "00231" "00016466" "00231" "00016467" "00231" "00016468" "00231" "00016469" "00231" "00016470" "00231" "00016471" "00231" "00016472" "00231" "00016473" "00231" "00016474" "00231" "00016475" "00000" "00016476" "00000" "00016477" "00000" "00016478" "00000" "00017598" "00332" "00029837" "00231" "00029838" "00231" "00029840" "00231" "00032383" "00231" "00032384" "00231" "00032385" "00231" "00032386" "00231" "00032387" "00231" "00032395" "00231" "00032396" "00231" "00080083" "00198" "00080083" "00232" "00080084" "00232" "00080085" "00232" "00117203" "00232" "00117204" "00232" "00117205" "00232" "00266479" "05093" "00276033" "00198" "00290376" "00198" "00316140" "05342" "00399727" "05611" "00443819" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00231, 00232, 00243, 00332, 05093, 05342, 05611 ## Count = 65 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Head/Microcephaly}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Feeding/Problems}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Intrauterine_growth_retardation/HPO/0001511}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Cancer/Sub_type}}" "{{Phenotype/Growth/Retardation/Postnatal/HPO_0008897}}" "{{Phenotype/Asymmetry/Body}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000015032" "00232" "00016430" "00150" "Familial" "" "prominent forehead (HP:0011220)" "" "macrocephaly congenital" "" "no feeding problems" "" "" "" "small" "" "" "" "" "" "growth retardation (postnatal)" "no asymmetric growth" "clinical SRS (Netchine Harbison-Score 4/6)" "SRS" "" "0000015035" "00243" "00016433" "00150" "Familial" "" "adrenal crisis; ear abnormality (HP:0000598); inruterine growth retardation (HP:0001511); genitourinary abnormalities (HP:0000078); abnormality nose (HP:0000366); frontal bossing (HP:0002007); cryptorchidism" "" "" "" "" "" "" "" "growth retardation" "" "" "" "" "" "" "" "" "" "" "0000015036" "00243" "00016434" "00150" "Isolated (sporadic)" "" "possible hypercalciuria (HP:0002150), adrenal crisis; ear abnormality (HP:0000598); delayed bone age (HP:0003799); inruterine growth retardation (HP:0001511); short limbs (HP:0006385); genitourinary abnormalities (HP:0000078); striated irregular metaphyses (HP:0003025; abnormality nose (HP:0000366); frontal bossing (HP:0002007); small epiphyses (HP:0010585); craniosynostosis (HP:0001363); short arms (HP:0009824); adrenal hypoplasia (HP:0000835); osteopenia (HP:0000938); cryptorchidism" "" "" "" "" "" "" "" "growth retardation" "" "" "" "" "" "" "" "" "" "" "0000015037" "00243" "00016435" "00150" "Familial" "" "adrenal crisis; ear abnormality (HP:0000598); delayed bone age (HP:0003799); inruterine growth retardation (HP:0001511); no short limbs (-HP:0006385); genitourinary abnormalities (HP:0000078); striated irregular metaphyses (HP:0003026; abnormality nose (HP:0000366); frontal bossing (HP:0002007); small epiphyses (HP:0010585); no craniosynostosis (-HP:0001363); no short arms (-HP:0009824); adrenal hypoplasia (HP:0000835); cryptorchidism" "" "" "" "" "" "" "" "growth retardation" "" "" "" "" "" "" "" "" "" "" "0000015038" "00243" "00016436" "00150" "Isolated (sporadic)" "" "possible adrenal hypoplasia, adrenal crisis; ear abnormality (HP:0000598); delayed bone age (HP:0003799); inruterine growth retardation (HP:0001511); short limbs (HP:0006385); hypercalciuria (HP:0002150); genitourinary abnormalities (HP:0000078); striated irregular metaphyses (HP:0003027; abnormality nose (HP:0000366); frontal bossing (HP:0002007); small epiphyses (HP:0010585); craniosynostosis (HP:0001363); short arms (HP:0009824); osteopenia (HP:0000938); cryptorchidism" "" "" "" "" "" "" "" "growth retardation" "" "" "" "" "" "" "" "" "" "" "0000015039" "00243" "00016437" "00150" "Isolated (sporadic)" "" "adrenal crisis; ear abnormality (HP:0000598); delayed bone age (HP:0003799); inruterine growth retardation (HP:0001511); short limbs (HP:0006385); hypercalciuria (HP:0002150); genitourinary abnormalities (HP:0000078); striated irregular metaphyses (HP:0003028; abnormality nose (HP:0000366); frontal bossing (HP:0002007); small epiphyses (HP:0010585); no craniosynostosis (-HP:0001363); short arms (HP:0009824); adrenal hypoplasia (HP:0000835); cryptorchidism" "" "" "" "" "" "" "" "growth retardation" "" "" "" "" "" "" "" "" "" "" "0000015040" "00243" "00016438" "00150" "Isolated (sporadic)" "" "adrenal crisis; ear abnormality (HP:0000598); delayed bone age (HP:0003799); inruterine growth retardation (HP:0001511); short limbs (HP:0006385); hypercalciuria (HP:0002150); genitourinary abnormalities (HP:0000078); striated irregular metaphyses (HP:0003029; abnormality nose (HP:0000366); frontal bossing (HP:0002007); no small epiphyses (-HP:0010585); craniosynostosis (HP:0001363); short arms (HP:0009824); adrenal hypoplasia (HP:0000835); osteopenia (HP:0000938); cryptorchidism" "" "" "" "" "" "" "" "growth retardation" "" "" "" "" "" "" "" "" "" "" "0000015041" "00231" "00016439" "00150" "Isolated (sporadic)" "" "ear abnormality (HP:0000598); abnormal kidney (HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; no abdominal wall defect (-HP:0010866); no hypoglycemia (-HP:0001943); no heart abnormality (-HP:0001627);" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015076" "00231" "00016440" "00150" "Isolated (sporadic)" "" "ear abnormality (HP:0000598); cleft palate (HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no heart abnormality (-HP:0001627);" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015077" "00231" "00016441" "00150" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015078" "00231" "00016442" "00150" "Familial" "" "ear abnormality (HP:0000598); normal kidney (-HP:0000077); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); tumor" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015079" "00231" "00016443" "00150" "Isolated (sporadic)" "" "abnormal karyotype; ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; no abdominal wall defect (-HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015080" "00231" "00016444" "00150" "Isolated (sporadic)" "" "ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; no tumor" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015081" "00231" "00016445" "00150" "Familial" "" "abnormal karyotype; ear abnormality (HP:0000598); abnormal kidney (HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); heart abnormality (HP:0001627); no tumor" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015082" "00231" "00016446" "00150" "Isolated (sporadic)" "" "abnormal karyotype; ear abnormality (HP:0000598); cleft palate (HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no naevus flammeus (-HP:0010733); no tumor" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015083" "00231" "00016447" "00150" "Familial" "" "abnormal karyotype; ear abnormality (HP:0000598); normal kidney (-HP:0000077); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015084" "00231" "00016448" "00150" "Isolated (sporadic)" "" "ear abnormality (HP:0000598); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); no heart abnormality (-HP:0001627);" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015085" "00231" "00016449" "00150" "Isolated (sporadic)" "" "ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; no tumor" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015086" "00231" "00016450" "00150" "Isolated (sporadic)" "" "ear abnormality (HP:0000598); cleft palate (HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015087" "00231" "00016451" "00150" "Familial" "" "abnormal karyotype; no ear abnormality (-HP:0000598); no cleft palate (-HP:0000175); no macrosomia (-HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); heart abnormality (HP:0001627); no naevus flammeus (-HP:0010733); tumor" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015088" "00231" "00016452" "00150" "Familial" "" "ear abnormality (HP:0000598); abnormal kidney (HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); heart abnormality (HP:0001627); naevus flammeus (HP:0010733) ; no tumor" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015089" "00231" "00016453" "00150" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015090" "00231" "00016454" "00150" "Familial" "" "abnormal karyotype; ear abnormality (HP:0000598); no cleft palate (-HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no naevus flammeus (-HP:0010733); no tumor" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015091" "00231" "00016455" "00150" "Unknown" "" "ear abnormality (HP:0000598); normal kidney (-HP:0000077); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; no tumor" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015092" "00231" "00016456" "00150" "Familial" "" "ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; no abdominal wall defect (-HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; no tumor" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015093" "00231" "00016457" "00150" "Familial" "" "ear abnormality (HP:0000598); cleft palate (HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015094" "00231" "00016458" "00150" "Isolated (sporadic)" "" "no ear abnormality (-HP:0000598); cleft palate (HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no heart abnormality (-HP:0001627);" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015095" "00231" "00016459" "00150" "Isolated (sporadic)" "" "abnormal karyotype; ear abnormality (HP:0000598); no cleft palate (-HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); naevus flammeus (HP:0010733) ; no tumor" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015096" "00231" "00016460" "00150" "Isolated (sporadic)" "" "abnormal karyotype; ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015097" "00231" "00016461" "00150" "Isolated (sporadic)" "" "abnormal karyotype; ear abnormality (HP:0000598); cleft palate (HP:0000175); macrosomia (HP:0001520); no macroglossia (-HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); naevus flammeus (HP:0010733) ; no tumor" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015098" "00231" "00016462" "00150" "Isolated (sporadic)" "" "ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015099" "00231" "00016463" "00150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015100" "00231" "00016464" "00150" "Familial" "" "abnormal karyotype; ear abnormality (HP:0000598); normal kidney (-HP:0000077); no macrosomia (-HP:0001520); macroglossia (HP:0000158); organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015101" "00231" "00016465" "00150" "Familial" "" "ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015102" "00231" "00016466" "00150" "Isolated (sporadic)" "" "no ear abnormality (-HP:0000598); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no heart abnormality (-HP:0001627);" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015103" "00231" "00016467" "00150" "Isolated (sporadic)" "" "ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015104" "00231" "00016468" "00150" "Familial" "" "ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; no tumor" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015105" "00231" "00016469" "00150" "Isolated (sporadic)" "" "ear abnormality (HP:0000598); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no heart abnormality (-HP:0001627);" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015106" "00231" "00016470" "00150" "Isolated (sporadic)" "" "ear abnormality (HP:0000598); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); heart abnormality (HP:0001627); naevus flammeus (HP:0010733) ;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015107" "00231" "00016471" "00150" "Isolated (sporadic)" "" "ear abnormality (HP:0000598); abnormal kidney (HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015108" "00231" "00016472" "00150" "Isolated (sporadic)" "" "ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); no macroglossia (-HP:0000158); organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015109" "00231" "00016473" "00006" "Isolated (sporadic)" "00y00m00d" "see paper; ..., normal karyotype; placental mesenchymal dysplasia; ear abnormality (HP:0000598); macroglossia (HP:0000158); organomegaly; no hypoglycemia (-HP:0001943); naevus flammeus (HP:0010733) ;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015110" "00231" "00016474" "00006" "Familial, autosomal dominant" "" "all affecteds inherited variant allele maternally;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015957" "00332" "00017598" "00006" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025783" "00231" "00029837" "01227" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025862" "00231" "00032385" "01227" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025863" "00231" "00032387" "01227" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025864" "00231" "00032386" "01227" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025865" "00231" "00032384" "01227" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025866" "00231" "00032383" "01227" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025867" "00231" "00029838" "01227" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025868" "00231" "00029840" "01227" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025869" "00231" "00032395" "01227" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025870" "00231" "00032396" "01227" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082726" "00232" "00080083" "01594" "Unknown" "" "prominent forehead (HP:0011220)" "" "nr" "" "nr" "" "" "" "nr" "" "" "" "" "" "growth retardation (postnatal)" "no asymmetric growth" "SRS n/a (Netchine Harbison-Score 2/3)" "SRS and 9p deletion syndrome" "" "0000082756" "00232" "00080084" "01594" "Unknown" "" "prominent forehead (HP:0011220)" "" "macrocephaly congenital" "" "feeding problems" "" "" "" "small" "" "" "" "" "" "growth retardation (postnatal)" "nr" "clinical SRS (Netchine Harbison-Score 5/5)" "SRS like" "" "0000082757" "00232" "00080085" "01594" "Unknown" "" "prominent forehead (HP:0011220)" "" "nr" "" "no feeding problems" "" "" "" "small" "" "" "" "" "" "growth retardation (postnatal)" "no asymmetric growth" "molecular SRS (Netchine Harbison-Score 3/5)" "SRS like" "" "0000092449" "00232" "00117203" "01594" "Familial" "" "prominent forehead (HP:0011220)" "" "macrocephaly congenital" "" "no feeding problems" "" "" "" "small" "" "" "" "" "" "growth retardation (postnatal)" "no asymmetric growth" "clinical SRS (Netchine Harbison-Score 4/6)" "SRS" "" "0000092450" "00232" "00117204" "01594" "Familial" "" "prominent forehead (HP:0011220)" "" "macrocephaly congenital" "" "feeding problems" "" "" "" "small" "" "" "" "" "" "growth retardation (postnatal)" "no asymmetric growth" "clinical SRS (Netchine Harbison-Score 5/6)" "SRS" "" "0000092451" "00232" "00117205" "01594" "Familial" "" "prominent forehead (HP:0011220)" "" "nr" "" "feeding problems" "" "" "" "small" "" "" "" "" "" "nr" "no asymmetric growth" "SRS n/a (Netchine Harbison-Score 3/4)" "SRS" "" "0000204213" "05093" "00266479" "02337" "Unknown" "" "posterior fossa hemangioblastoma; no family history" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "hemangioblastoma" "" "0000210589" "00198" "00276033" "01807" "Unknown" "" "Short stature (HP:0004322); Macrocephaly (HP:0000256); Prominent forehead (HP:0011220); Cryptorchidism (HP:0000028)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000239887" "05342" "00316140" "00006" "Unknown" "" "renal hypoplasia; hypospadias , polydactyly" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "renal hypoplasia" "" "0000292833" "05611" "00399727" "00006" "Familial, autosomal dominant" "08y" "see paper; ..., 19wg omphalocele" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "BWS/IMAGE" "developmental delay" "" "0000333096" "00198" "00443819" "00006" "Familial, autosomal dominant" "" "minor omphalocele, hypospadias, multiple sacral dimples, cryptorchidism, dysmorphic features" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "BWS" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 73 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000016372" "00016430" "1" "00150" "00006" "2014-04-18 20:03:35" "" "" "SEQ" "DNA" "?" "" "0000016375" "00016433" "1" "00150" "00006" "2014-04-22 16:20:03" "" "" "SEQ" "DNA" "?" "" "0000016376" "00016434" "1" "00150" "00006" "2014-04-22 16:20:03" "" "" "SEQ" "DNA" "?" "" "0000016377" "00016435" "1" "00150" "00006" "2014-04-22 16:20:03" "" "" "SEQ" "DNA" "?" "" "0000016378" "00016436" "1" "00150" "00006" "2014-04-22 16:20:03" "" "" "SEQ" "DNA" "?" "" "0000016379" "00016437" "1" "00150" "00006" "2014-04-22 16:20:03" "" "" "SEQ" "DNA" "?" "" "0000016380" "00016438" "1" "00150" "00006" "2014-04-22 16:20:03" "" "" "SEQ" "DNA" "?" "" "0000016381" "00016439" "1" "00150" "00006" "2014-04-22 17:11:31" "00006" "2014-04-22 21:07:41" "SEQ" "DNA" "?" "" "0000016382" "00016440" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016383" "00016441" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016384" "00016442" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016385" "00016443" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016386" "00016444" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016387" "00016445" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016388" "00016446" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016389" "00016447" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016390" "00016448" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016391" "00016449" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016392" "00016450" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016393" "00016451" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016394" "00016452" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016395" "00016453" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016396" "00016454" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016397" "00016455" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016398" "00016456" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016399" "00016457" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016400" "00016458" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016401" "00016459" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016402" "00016460" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016403" "00016461" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016404" "00016462" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016405" "00016463" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016406" "00016464" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016407" "00016465" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016408" "00016466" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016409" "00016467" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016410" "00016468" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016411" "00016469" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016412" "00016470" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016413" "00016471" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016414" "00016472" "1" "00150" "00006" "2014-04-22 17:11:31" "" "" "SEQ" "DNA" "?" "" "0000016415" "00016473" "1" "00006" "00006" "2014-04-22 22:39:31" "" "" "SEQ" "DNA" "blood" "" "0000016416" "00016474" "1" "00006" "00006" "2014-04-22 22:59:28" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000016417" "00016475" "1" "00006" "00006" "2014-04-22 23:40:52" "" "" "PAGE;PCR;SSCA" "DNA" "" "" "0000016418" "00016476" "1" "00006" "00006" "2014-04-22 23:48:58" "" "" "SEQ;SSCA" "DNA" "" "" "0000016419" "00016477" "1" "00006" "00006" "2014-04-22 23:56:48" "" "" "SEQ;SSCA" "DNA" "" "" "0000016420" "00016478" "1" "00006" "00006" "2014-04-23 00:00:09" "" "" "SEQ;SSCA" "DNA" "" "" "0000017581" "00017598" "1" "00006" "00006" "2014-06-20 23:36:11" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000029813" "00029770" "1" "01227" "01227" "2015-02-06 15:38:16" "" "" "SEQ" "DNA" "" "" "0000029890" "00029837" "1" "01227" "01227" "2015-02-12 12:28:22" "" "" "SEQ" "DNA" "" "" "0000029892" "00029838" "1" "01227" "01227" "2015-02-12 13:50:31" "" "" "SEQ" "DNA" "" "" "0000029894" "00029840" "1" "01227" "01227" "2015-02-12 13:59:07" "" "" "SEQ" "DNA" "" "" "0000032451" "00032383" "1" "01227" "01227" "2015-02-19 17:48:12" "" "" "SEQ" "DNA" "" "" "0000032452" "00032384" "1" "01227" "01227" "2015-02-19 17:53:38" "" "" "SEQ" "DNA" "" "" "0000032453" "00032385" "1" "01227" "01227" "2015-02-19 18:12:11" "" "" "SEQ" "DNA" "" "" "0000032454" "00032386" "1" "01227" "01227" "2015-02-19 18:16:47" "" "" "SEQ" "DNA" "" "" "0000032455" "00032387" "1" "01227" "01227" "2015-02-19 18:21:52" "" "" "SEQ" "DNA" "" "" "0000032463" "00032395" "1" "01227" "00006" "2015-02-20 13:44:14" "" "" "SEQ" "DNA" "" "" "0000032464" "00032396" "1" "01227" "00006" "2015-02-20 13:47:55" "" "" "SEQ" "DNA" "" "" "0000035233" "00035163" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035234" "00035164" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000080162" "00080083" "1" "01594" "00008" "2016-09-01 17:30:25" "" "" "microscope; FISH; arrayCGH" "DNA" "" "" "0000080163" "00080084" "1" "01594" "00008" "2016-09-01 17:30:25" "" "" "microscope; FISH; arrayCNV" "DNA" "" "" "0000080164" "00080085" "1" "01594" "00008" "2016-09-01 17:30:25" "" "" "microscope; FISH; MLPA; arrayCNV" "DNA" "" "" "0000117664" "00117203" "1" "01594" "00006" "2017-08-14 13:39:23" "" "" "SEQ" "DNA" "" "" "0000117665" "00117204" "1" "01594" "00006" "2017-08-14 13:42:45" "" "" "SEQ" "DNA" "" "" "0000117666" "00117205" "1" "01594" "00006" "2017-08-14 13:45:46" "" "" "SEQ" "DNA" "" "" "0000267605" "00266479" "1" "02337" "01873" "2019-08-07 20:11:25" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000277180" "00276033" "1" "01807" "01807" "2020-01-24 11:02:27" "" "" "SEQ" "DNA" "" "" "0000291544" "00290376" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000317322" "00316140" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000400970" "00399727" "1" "00006" "00006" "2022-01-22 19:17:42" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000445316" "00443819" "1" "00006" "00006" "2023-12-03 11:44:16" "" "" "arraySNP;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 68 "{{screeningid}}" "{{geneid}}" "0000016372" "CDKN1C" "0000016375" "CDKN1C" "0000016376" "CDKN1C" "0000016377" "CDKN1C" "0000016378" "CDKN1C" "0000016379" "CDKN1C" "0000016380" "CDKN1C" "0000016381" "CDKN1C" "0000016382" "CDKN1C" "0000016383" "CDKN1C" "0000016384" "CDKN1C" "0000016385" "CDKN1C" "0000016386" "CDKN1C" "0000016387" "CDKN1C" "0000016388" "CDKN1C" "0000016389" "CDKN1C" "0000016390" "CDKN1C" "0000016391" "CDKN1C" "0000016392" "CDKN1C" "0000016393" "CDKN1C" "0000016394" "CDKN1C" "0000016395" "CDKN1C" "0000016396" "CDKN1C" "0000016397" "CDKN1C" "0000016398" "CDKN1C" "0000016399" "CDKN1C" "0000016400" "CDKN1C" "0000016401" "CDKN1C" "0000016402" "CDKN1C" "0000016403" "CDKN1C" "0000016404" "CDKN1C" "0000016405" "CDKN1C" "0000016406" "CDKN1C" "0000016407" "CDKN1C" "0000016408" "CDKN1C" "0000016409" "CDKN1C" "0000016410" "CDKN1C" "0000016411" "CDKN1C" "0000016412" "CDKN1C" "0000016413" "CDKN1C" "0000016414" "CDKN1C" "0000016415" "CDKN1C" "0000016416" "CDKN1C" "0000016417" "CDKN1C" "0000016418" "CDKN1C" "0000016419" "CDKN1C" "0000016420" "CDKN1C" "0000017581" "CCNO" "0000017581" "CDKN1C" "0000017581" "KCNN3" "0000029813" "CDKN1C" "0000029890" "CDKN1C" "0000029892" "CDKN1C" "0000029894" "CDKN1C" "0000032451" "CDKN1C" "0000032452" "CDKN1C" "0000032453" "CDKN1C" "0000032454" "CDKN1C" "0000032455" "CDKN1C" "0000032463" "CDKN1C" "0000032464" "CDKN1C" "0000035233" "CDKN1C" "0000035234" "CDKN1C" "0000117664" "CDKN1C" "0000117665" "CDKN1C" "0000117666" "CDKN1C" "0000317322" "CDKN1C" "0000400970" "CDKN1C" ## 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 = 187 "{{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}}" "0000036185" "21" "95" "11" "2905349" "2905349" "subst" "0" "00150" "CDKN1C_000001" "g.2905349C>A" "" "{PMID:Brioude 2013:24065356}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2884119C>A" "" "pathogenic" "" "0000036189" "21" "95" "11" "2905905" "2905905" "subst" "0" "00150" "CDKN1C_000002" "g.2905905A>C" "" "{PMID:Hamajima 2013:24098681}" "" "" "" "Germline" "yes" "" "" "" "" "g.2884675A>C" "" "pathogenic" "" "0000036190" "1" "95" "11" "2905901" "2905901" "subst" "0" "00150" "CDKN1C_000003" "g.2905901C>T" "" "{PMID:Arboleda 2012:22634751}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "De novo" "yes" "" "" "" "" "g.2884671C>T" "" "pathogenic" "" "0000036191" "21" "95" "11" "2905360" "2905360" "subst" "0" "00150" "CDKN1C_000004" "g.2905360A>C" "" "{PMID:Arboleda 2012:22634751}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "yes" "" "" "" "" "g.2884130A>C" "" "pathogenic" "" "0000036192" "1" "95" "11" "2905359" "2905359" "subst" "0" "00150" "CDKN1C_000005" "g.2905359A>G" "" "{PMID:Arboleda 2012:22634751}" "" "" "" "De novo" "yes" "" "" "" "" "g.2884129A>G" "" "pathogenic" "" "0000036193" "1" "95" "11" "2905354" "2905354" "subst" "0" "00150" "CDKN1C_000006" "g.2905354T>C" "" "{PMID:Arboleda 2012:22634751}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "De novo" "yes" "" "" "" "" "g.2884124T>C" "" "pathogenic" "" "0000036194" "1" "95" "11" "2905350" "2905350" "subst" "0" "00150" "CDKN1C_000007" "g.2905350C>G" "" "{PMID:Arboleda 2012:22634751}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "De novo" "yes" "" "" "" "" "g.2884120C>G" "" "pathogenic" "" "0000036195" "21" "95" "11" "2906709" "2906709" "subst" "2.87319E-5" "00150" "CDKN1C_000008" "g.2906709G>A" "" "{PMID:Romanelli 2010:20503313}" "" "" "" "Germline" "yes" "" "" "" "" "g.2885479G>A" "" "pathogenic" "" "0000036196" "21" "95" "11" "2906622" "2906622" "subst" "0" "00150" "CDKN1C_000009" "g.2906622A>T" "" "{PMID:Romanelli 2010:20503313}" "" "" "" "Germline" "yes" "" "" "" "" "g.2885392A>T" "" "pathogenic" "" "0000036197" "21" "95" "11" "2906622" "2906622" "subst" "0" "00150" "CDKN1C_000010" "g.2906622A>C" "" "{PMID:Engel 2000:11106355}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2885392A>C" "" "pathogenic" "" "0000036198" "21" "95" "11" "2906617" "2906617" "del" "0" "00150" "CDKN1C_000011" "g.2906617del" "" "{PMID:Lee 1997:09311734}" "" "" "" "Germline" "yes" "" "" "" "" "g.2885387del" "" "pathogenic" "" "0000036199" "21" "95" "11" "2906595" "2906595" "subst" "0" "00150" "CDKN1C_000012" "g.2906595A>G" "" "{PMID:Li 2001:1141475}" "" "" "" "Germline" "yes" "" "" "" "" "g.2885365A>G" "" "pathogenic" "" "0000036200" "21" "95" "11" "2906581" "2906581" "subst" "0" "00150" "CDKN1C_000013" "g.2906581G>A" "" "{PMID:Hatada 1996:08841187}" "" "" "" "Germline" "yes" "" "" "" "" "g.2885351G>A" "" "pathogenic" "" "0000036201" "21" "95" "11" "2906571" "2906571" "subst" "0" "00150" "CDKN1C_000014" "g.2906571A>G" "" "{PMID:Li 2001:1141475}" "" "" "" "Germline" "yes" "" "" "" "" "g.2885341A>G" "" "pathogenic" "" "0000036202" "21" "95" "11" "2906539" "2906539" "subst" "0" "00150" "CDKN1C_000015" "g.2906539A>G" "" "{DOI:Yatsuki 2013:10.1007/s13258-013-0079-3}" "" "" "variant 0/200 in controls" "Germline" "yes" "" "" "" "" "g.2885309A>G" "" "pathogenic" "" "0000036203" "21" "95" "11" "2906527" "2906535" "del" "0" "00150" "CDKN1C_000016" "g.2906527_2906535del" "" "{PMID:O’Keefe 1997:09311733}" "" "185_193delATTACGACT" "variant 0/210 in controls" "Germline" "yes" "" "" "" "" "g.2885297_2885305del" "" "pathogenic" "" "0000036204" "1" "95" "11" "2906533" "2906533" "subst" "0" "00150" "CDKN1C_000017" "g.2906533A>T" "" "{PMID:Welsh 2011:22140035}" "" "" "" "De novo" "?" "" "" "" "" "g.2885303A>T" "" "pathogenic" "" "0000036205" "1" "95" "11" "2906511" "2906511" "subst" "0" "00150" "CDKN1C_000018" "g.2906511G>A" "" "{PMID:Lam 1999:1042481}" "" "" "" "De novo" "?" "" "" "" "" "g.2885281G>A" "" "pathogenic" "" "0000036206" "1" "95" "11" "2906488" "2906488" "subst" "0" "00150" "CDKN1C_000019" "g.2906488G>A" "" "{PMID:Romanelli 2009:19386358}" "" "" "" "De novo" "?" "" "0" "" "" "g.2885258G>A" "" "pathogenic" "" "0000036207" "21" "95" "11" "2906449" "2906449" "subst" "0" "00150" "CDKN1C_000020" "g.2906449A>G" "" "{DOI:Yatsuki 2013:10.1007/s13258-013-0079-3}" "" "" "variant 0/200 in controls" "Germline" "yes" "" "" "" "" "g.2885219A>G" "" "pathogenic" "" "0000036208" "21" "95" "11" "2906409" "2906410" "delins" "0" "00150" "CDKN1C_000021" "g.2906409_2906410delinsC" "" "{PMID:Hatada 1997:9341892}" "" "310_311delCTinsG" "" "Germline" "yes" "" "0" "" "" "g.2885179_2885180delinsC" "" "pathogenic" "" "0000036209" "1" "95" "11" "2906328" "2906329" "ins" "0" "00150" "CDKN1C_000022" "g.2906328_2906329insA" "" "{PMID:Engel 2000:11106355}" "" "392insT" "" "De novo" "?" "" "0" "" "" "g.2885098_2885099insA" "" "pathogenic" "" "0000036210" "21" "95" "11" "2906261" "2906261" "del" "0" "00150" "CDKN1C_000023" "g.2906261del" "" "{DOI:Yatsuki 2013:10.1007/s13258-013-0079-3}" "" "" "variant 0/200 in controls" "Germline" "yes" "" "" "" "" "g.2885031del" "" "pathogenic" "" "0000036211" "1" "95" "11" "2906259" "2906259" "del" "0" "00150" "CDKN1C_000024" "g.2906259del" "" "{PMID:Lee 1997:09311734}" "" "" "" "Unknown" "?" "" "" "" "" "g.2885029del" "" "pathogenic" "" "0000036212" "21" "95" "11" "2906206" "2906221" "del" "0" "00150" "CDKN1C_000025" "g.2906206_2906221del" "" "{PMID:Lam 1999:1042481}" "" "499_514delGCTCCGGTCGCGGCTC" "" "Germline" "yes" "" "0" "" "" "g.2884976_2884991del" "" "pathogenic" "" "0000036213" "21" "95" "11" "2906141" "2906141" "del" "0" "00150" "CDKN1C_000026" "g.2906141del" "" "{PMID:Kantaputra 2012:23197429}" "" "" "variant 0/100 in controls" "Germline" "yes" "" "" "" "" "g.2884911del" "" "pathogenic" "" "0000036214" "21" "95" "11" "2906026" "2906026" "subst" "0" "00150" "CDKN1C_000027" "g.2906026G>A" "" "{PMID:Romanelli 2010:20503313}" "" "" "" "Germline" "yes" "" "" "" "" "g.2884796G>A" "" "pathogenic" "" "0000036215" "21" "95" "11" "2906020" "2906020" "del" "0" "00150" "CDKN1C_000028" "g.2906020del" "" "{DOI:Yatsuki 2013:10.1007/s13258-013-0079-3}" "" "" "variant 0/200 in controls" "Germline" "yes" "" "" "" "" "g.2884790del" "" "pathogenic" "" "0000036216" "11" "95" "11" "2905999" "2905999" "subst" "0" "00150" "CDKN1C_000029" "g.2905999G>A" "" "{PMID:Li 2001:1141475}" "" "" "" "Germline" "yes" "" "" "" "" "g.2884769G>A" "" "pathogenic" "" "0000036217" "1" "95" "11" "2905999" "2905999" "subst" "0" "00150" "CDKN1C_000029" "g.2905999G>A" "" "{PMID:Li 2001:1141475}, {DOI:Yatsuki 2013:10.1007/s13258-013-0079-3}" "" "" "variant 0/200 in controls" "De novo" "?" "" "0" "" "" "g.2884769G>A" "" "pathogenic" "" "0000036218" "1" "95" "11" "2905980" "2905980" "subst" "0" "00150" "CDKN1C_000031" "g.2905980G>T" "" "{PMID:Hatada 1997:09341892}" "" "" "" "Unknown" "?" "" "" "" "" "g.2884750G>T" "" "pathogenic" "" "0000036219" "1" "95" "11" "2905961" "2905961" "del" "0" "00150" "CDKN1C_000032" "g.2905961del" "" "{PMID:Eggermann 2014:24658748}" "" "" "" "Unknown" "?" "" "" "" "" "g.2884731del" "" "pathogenic" "" "0000036220" "21" "95" "11" "2905937" "2905938" "del" "0" "00150" "CDKN1C_000033" "g.2905937_2905938del" "" "{PMID:Li 2001:1141475}" "" "784_785delGC" "" "Germline" "yes" "" "0" "" "" "g.2884707_2884708del" "" "pathogenic" "" "0000036221" "21" "95" "11" "2905367" "2905367" "subst" "0" "00150" "CDKN1C_000034" "g.2905367G>C" "" "{PMID:Lam 1999:1042481}" "" "" "variant 0/50 in controls" "Germline" "yes" "" "" "" "" "g.2884137G>C" "" "pathogenic" "" "0000036222" "21" "95" "11" "2905366" "2905366" "subst" "0" "00150" "CDKN1C_000035" "g.2905366T>C" "" "{PMID:Romanelli 2010:20503313}" "" "" "" "Germline" "yes" "" "" "" "" "g.2884136T>C" "" "pathogenic" "" "0000036223" "21" "95" "11" "2905359" "2905359" "delins" "0" "00150" "CDKN1C_000036" "g.2905359delinsCT" "" "{PMID:Hatada 1996:08841187}" "" "826delTinsAG" "" "Germline" "yes" "" "0" "" "" "g.2884129delinsCT" "" "pathogenic" "" "0000036224" "21" "95" "11" "2905340" "2905340" "subst" "0" "00150" "CDKN1C_000037" "g.2905340G>C" "" "{PMID:Lam 1999:1042481}" "" "" "" "Germline" "yes" "" "" "" "" "g.2884110G>C" "" "pathogenic" "" "0000036225" "1" "95" "11" "2905340" "2905340" "subst" "0" "00150" "CDKN1C_000038" "g.2905340G>C" "" "{PMID:Lam 1999:1042481}, {PMID:Romanelli 2010:20503313}" "" "" "" "Unknown" "?" "" "" "" "" "g.2884110G>C" "" "pathogenic" "" "0000036226" "21" "95" "11" "2905340" "2905340" "subst" "0" "00150" "CDKN1C_000039" "g.2905340G>T" "" "{PMID:Romanelli 2010:20503313}" "" "" "" "Germline" "yes" "" "" "" "" "g.2884110G>T" "" "pathogenic" "" "0000036227" "21" "95" "11" "2905340" "2905340" "del" "0" "00150" "CDKN1C_000040" "g.2905340del" "" "{PMID:Romanelli 2010:20503313}" "" "" "" "Germline" "yes" "" "" "" "" "g.2884110del" "" "pathogenic" "" "0000036228" "1" "95" "11" "2905239" "2905239" "subst" "0" "00150" "CDKN1C_000041" "g.2905239G>A" "" "{PMID:Lam 1999:1042481}" "" "" "variant 0/100 in controls" "Unknown" "?" "" "" "" "" "g.2884009G>A" "" "pathogenic" "" "0000036229" "21" "95" "11" "2906032" "2906032" "subst" "0" "00006" "CDKN1C_000042" "g.2906032G>A" "" "{PMID:Percesepe 2008:18395877}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2884802G>A" "" "pathogenic" "" "0000036230" "21" "75" "11" "2905209" "2905209" "subst" "1.27637E-5" "00006" "CDKN1C_000043" "g.2905209C>A" "" "{PMID:Lew 2004:15150778}" "" "IVS3+20G>T" "variant not in 100 control chromosomes; (fibroblast) RNA from maternal allele only; 5-fold reduction spliced/unspliced RNA; similar findings from expression cloning in HEK293 cells" "Germline" "yes" "" "0" "" "" "g.2883979C>A" "" "likely pathogenic" "" "0000036231" "21" "35" "11" "2906224" "2906235" "del" "0" "00006" "CDKN1C_000044" "g.2906224_2906235del" "" "{PMID:Lew 2004:15150778}" "" "171-174APVA del" "" "Germline" "yes" "" "0" "" "" "g.2884994_2885005del" "" "likely benign" "" "0000036232" "11" "35" "11" "2905211" "2905211" "dup" "0" "00006" "CDKN1C_000045" "g.2905211dup" "" "" "" "" "gene only maternally expressed" "Germline" "no" "" "0" "" "" "g.2883981dup" "" "likely benign" "" "0000036233" "0" "15" "11" "2905211" "2905211" "dup" "0" "00006" "CDKN1C_000045" "g.2905211dup" "0.33 chromosomes" "{PMID:Lew 2004:15150778}" "" "" "no effect on RNA expression measured" "Germline" "-" "" "0" "" "" "g.2883981dup" "" "benign" "" "0000036234" "0" "35" "11" "2906224" "2906235" "del" "0" "00006" "CDKN1C_000044" "g.2906224_2906235del" "23/404 chromosomes" "{PMID:Tokino 1996:08655143}" "" "" "16/210 cancer samples, 7/194 control cases" "Not applicable" "-" "" "0" "" "" "g.2884994_2885005del" "" "likely benign" "" "0000036235" "0" "55" "11" "2906175" "2906186" "del" "0" "00006" "CDKN1C_000046" "g.2906175_2906186del" "2/22 chromosomes" "{PMID:Tokino 1996:08655143}" "" "APAP 181-184 del" "" "Not applicable" "-" "" "0" "" "" "g.2884945_2884956del" "" "VUS" "" "0000036236" "0" "55" "11" "2906120" "2906131" "del" "0" "00006" "CDKN1C_000047" "g.2906120_2906131del" "1/22 chromosomes" "{PMID:Tokino 1996:08655143}" "" "PAPA 200-203 del" "" "Not applicable" "-" "" "0" "" "" "g.2884890_2884901del" "" "VUS" "" "0000036237" "0" "55" "11" "2906108" "2906119" "del" "0" "00006" "CDKN1C_000048" "g.2906108_2906119del" "1/22 chromosomes" "{PMID:Tokino 1996:08655143}" "" "PAPA 206-209 del" "" "Not applicable" "-" "" "0" "" "" "g.2884878_2884889del" "" "VUS" "" "0000037556" "3" "50" "11" "2906224" "2906235" "del" "0" "00006" "CDKN1C_000044" "g.2906224_2906235del" "" "{PMID:Casey 2014:24824133}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2884994_2885005del" "" "VUS" "" "0000055899" "21" "50" "11" "2906488" "2906509" "del" "0" "01227" "CDKN1C_000052" "g.2906488_2906509del" "" "" "" "hg 38 g.2885279_2885258del21" "" "Germline" "" "" "0" "" "" "g.2885258_2885279del" "" "VUS" "" "0000055971" "21" "70" "11" "2906047" "2906047" "subst" "0" "01227" "CDKN1C_000049" "g.2906047C>A" "" "" "" "unpublished 2884817G>T" "" "Germline" "" "" "0" "" "" "g.2884817C>A" "" "likely pathogenic" "" "0000055977" "21" "70" "11" "2906485" "2906485" "subst" "0" "01227" "CDKN1C_000050" "g.2906485A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2885255A>G" "" "likely pathogenic" "" "0000055979" "21" "70" "11" "2906078" "2906089" "del" "0" "01227" "CDKN1C_000051" "g.2906078_2906089del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2884848_2884859del" "" "likely pathogenic" "" "0000058601" "21" "70" "11" "2905999" "2905999" "subst" "0" "01227" "CDKN1C_000029" "g.2905999G>A" "" "Mussa A, Russo S* submitted ESHG" "" "" "" "Germline" "" "" "0" "" "" "g.2884769G>A" "" "likely pathogenic" "" "0000058602" "21" "70" "11" "2906026" "2906026" "subst" "0" "01227" "CDKN1C_000027" "g.2906026G>A" "" "Mussa A, Russo S* submitted ESHG" "" "" "" "Germline" "" "" "0" "" "" "g.2884796G>A" "" "likely pathogenic" "" "0000058603" "21" "70" "11" "2906617" "2906617" "del" "0" "01227" "CDKN1C_000011" "g.2906617del" "" "Mussa A, Russo S* submitted ESHG" "" "" "" "Germline" "" "" "0" "" "" "g.2885387del" "" "likely pathogenic" "" "0000058604" "0" "70" "11" "2905239" "2905239" "subst" "0" "01227" "CDKN1C_000041" "g.2905239G>A" "" "Mussa A, Russo S* submitted" "" "" "" "De novo" "" "" "0" "" "" "g.2884009G>A" "" "likely pathogenic" "" "0000058605" "21" "70" "11" "2905340" "2905340" "subst" "0" "01227" "CDKN1C_000037" "g.2905340G>C" "" "Russo, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.2884110G>C" "" "likely pathogenic" "" "0000058622" "0" "70" "11" "2905307" "2905307" "del" "0" "01227" "CDKN1C_000053" "g.2905307del" "" "" "" "878delC" "" "Unknown" "" "" "0" "" "" "g.2884077del" "" "likely pathogenic" "" "0000058623" "0" "70" "11" "2905954" "2905954" "subst" "0" "01227" "CDKN1C_000054" "g.2905954C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2884724C>A" "" "likely pathogenic" "" "0000062352" "1" "10" "11" "2905211" "2905211" "dup" "0" "01164" "CDKN1C_000045" "g.2905211dup" "" "" "" "" "" "Germline" "" "rs34289096" "0" "" "" "g.2883981dup" "" "benign" "" "0000062353" "1" "10" "11" "2906224" "2906235" "del" "0" "01164" "CDKN1C_000044" "g.2906224_2906235del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2884994_2885005del" "" "benign" "" "0000129090" "21" "90" "11" "0" "0" "" "0" "01594" "CDKN1C_000056" "g.[NC_000009.11:pter_(15674745_16600000)]delins[pter_(2192146_2800000);NC_000004.11:(131100001_135285075)_(136913555_139500000)]" "" "for EUCID-SRS consortium" "" "" "unbalanced translocation, extra copy 1.95 Mb 11p15.5" "DUPLICATE record" "" "" "0" "" "arr[hg19] 11p15.5(205,983-2,192,146)x3" "" "" "pathogenic" "" "0000129092" "21" "90" "11" "0" "0" "" "0" "01594" "CDKN1C_000110" "g.[NC_000004.11:pter_(3416499_6000000)]delinspter_(2914486_10700000)" "" "for EUCID-SRS consortium" "" "" "unbalanced translocation, extra copy 11p15" "DUPLICATE record" "" "" "0" "" "" "" "" "pathogenic" "" "0000129094" "21" "90" "11" "0" "0" "" "0" "01594" "CDKN1C_000110" "g.[NC_000004.11:(183200001_185163006)_(190963006_qter)]delins(pter_180000)_(4143424_10700000)inv" "" "for EUCID-SRS consortium" "" "" "unbalanced translocation, extra copy of chr11 sequences translocated to chr4, ICR1 and ICR2 affected" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000188631" "21" "90" "11" "2905349" "2905349" "subst" "0" "01594" "CDKN1C_000001" "g.2905349C>A" "" "{PMID:Brioude 2013:24065356}, for EUCID-SRS consortium" "" "" "" "Germline" "yes" "" "0" "" "" "g.2884119C>A" "" "pathogenic" "" "0000188632" "21" "90" "11" "2905349" "2905349" "subst" "0" "01594" "CDKN1C_000001" "g.2905349C>A" "" "{PMID:Brioude 2013:24065356}, for EUCID-SRS consortium" "" "" "" "Germline" "yes" "" "0" "" "" "g.2884119C>A" "" "pathogenic" "" "0000188633" "21" "90" "11" "2905349" "2905349" "subst" "0" "01594" "CDKN1C_000001" "g.2905349C>A" "" "{PMID:Brioude 2013:24065356}, for EUCID-SRS consortium" "" "" "" "Germline" "yes" "" "0" "" "" "g.2884119C>A" "" "pathogenic" "" "0000251801" "0" "30" "11" "2906165" "2906165" "subst" "0.220339" "02326" "CDKN1C_000068" "g.2906165A>G" "" "" "" "CDKN1C(NM_000076.2):c.537_555delCCCGGCCCCGGCCCCGGCTinsCCCGGCCCCGGCCCCGGCC (p.A179_A185=), CDKN1C(NM_000076.2):c.543_555delCCCGGCCCCGGCTinsCCCGGCCCC..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2884935A>G" "" "likely benign" "" "0000266623" "0" "10" "11" "2905211" "2905211" "dup" "0" "02325" "CDKN1C_000057" "g.2905211dup" "" "" "" "CDKN1C(NM_000076.2):c.*5+24dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2883981dup" "" "benign" "" "0000269939" "0" "10" "11" "2906804" "2906804" "subst" "0" "02326" "CDKN1C_000078" "g.2906804C>T" "" "" "" "CDKN1C(NM_000076.2):c.-85G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2885574C>T" "" "benign" "" "0000269940" "0" "10" "11" "2906224" "2906235" "del" "0" "02326" "CDKN1C_000069" "g.2906224_2906235del" "" "" "" "CDKN1C(NM_000076.2):c.512_523del (p.(Ala171_Ala174del)), CDKN1C(NM_000076.2):c.512_523delCTCCGGTCGCGG (p.A171_A174del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2884994_2885005del" "" "benign" "" "0000269941" "0" "10" "11" "2906120" "2906120" "subst" "0" "02326" "CDKN1C_000067" "g.2906120T>C" "" "" "" "CDKN1C(NM_000076.2):c.600A>G (p.P200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2884890T>C" "" "benign" "" "0000269942" "0" "10" "11" "2906108" "2906119" "del" "0" "02326" "CDKN1C_000048" "g.2906108_2906119del" "" "" "" "CDKN1C(NM_000076.2):c.618_629del (p.(Ala213_Pro216del)), CDKN1C(NM_000076.2):c.618_629delGGCCCCGGCCCC (p.A213_P216del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2884878_2884889del" "" "benign" "" "0000269943" "0" "10" "11" "2906114" "2906119" "del" "0" "02326" "CDKN1C_000065" "g.2906114_2906119del" "" "" "" "CDKN1C(NM_000076.2):c.624_629delGGCCCC (p.A215_P216del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2884884_2884889del" "" "benign" "" "0000273065" "0" "30" "11" "2906474" "2906474" "subst" "5.04535E-5" "01943" "CDKN1C_000076" "g.2906474C>T" "" "" "" "CDKN1C(NM_000076.2):c.246G>A (p.V82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2885244C>T" "" "likely benign" "" "0000273066" "0" "50" "11" "2906323" "2906323" "subst" "0" "01943" "CDKN1C_000074" "g.2906323G>A" "" "" "" "CDKN1C(NM_000076.2):c.397C>T (p.P133S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2885093G>A" "" "VUS" "" "0000273067" "0" "30" "11" "2906311" "2906311" "subst" "0" "01943" "CDKN1C_000072" "g.2906311G>C" "" "" "" "CDKN1C(NM_000076.2):c.409C>G (p.P137A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2885081G>C" "" "likely benign" "" "0000273068" "0" "50" "11" "2906229" "2906229" "subst" "0" "01943" "CDKN1C_000070" "g.2906229G>A" "" "" "" "CDKN1C(NM_000076.2):c.491C>T (p.P164L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2884999G>A" "" "VUS" "" "0000273069" "0" "10" "11" "2906108" "2906119" "del" "0" "01943" "CDKN1C_000048" "g.2906108_2906119del" "" "" "" "CDKN1C(NM_000076.2):c.618_629del (p.(Ala213_Pro216del)), CDKN1C(NM_000076.2):c.618_629delGGCCCCGGCCCC (p.A213_P216del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2884878_2884889del" "" "benign" "" "0000273070" "0" "30" "11" "2906096" "2906096" "subst" "0" "01943" "CDKN1C_000066" "g.2906096C>G" "" "" "" "CDKN1C(NM_000076.2):c.624G>C (p.P208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2884866C>G" "" "likely benign" "" "0000273071" "0" "10" "11" "2906012" "2906012" "subst" "0.00386852" "01943" "CDKN1C_000062" "g.2906012C>T" "" "" "" "CDKN1C(NM_000076.2):c.708G>A (p.E236=, p.(Glu236=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2884782C>T" "" "benign" "" "0000273072" "0" "30" "11" "2905299" "2905299" "subst" "7.44108E-5" "01943" "CDKN1C_000059" "g.2905299G>A" "" "" "" "CDKN1C(NM_000076.2):c.886C>T (p.P296S, p.(Pro296Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2884069G>A" "" "likely benign" "" "0000273073" "0" "30" "11" "2905255" "2905255" "subst" "0" "01943" "CDKN1C_000058" "g.2905255G>T" "" "" "" "CDKN1C(NM_000076.2):c.930C>A (p.T310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2884025G>T" "" "likely benign" "" "0000321949" "0" "50" "11" "2905299" "2905299" "subst" "7.44108E-5" "01804" "CDKN1C_000059" "g.2905299G>A" "" "" "" "CDKN1C(NM_000076.2):c.886C>T (p.P296S, p.(Pro296Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2884069G>A" "" "VUS" "" "0000321951" "0" "30" "11" "2905369" "2905369" "subst" "0.000398699" "01804" "CDKN1C_000061" "g.2905369G>A" "" "" "" "CDKN1C(NM_000076.2):c.821-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2884139G>A" "" "likely benign" "" "0000321954" "0" "30" "11" "2906108" "2906119" "del" "0" "01804" "CDKN1C_000048" "g.2906108_2906119del" "" "" "" "CDKN1C(NM_000076.2):c.618_629del (p.(Ala213_Pro216del)), CDKN1C(NM_000076.2):c.618_629delGGCCCCGGCCCC (p.A213_P216del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2884878_2884889del" "" "likely benign" "" "0000321955" "0" "50" "11" "2906175" "2906186" "del" "0" "01804" "CDKN1C_000046" "g.2906175_2906186del" "" "" "" "CDKN1C(NM_000076.2):c.543_554del (p.(Ala191_Pro194del)), CDKN1C(NM_000076.2):c.543_554delCCCGGCCCCGGC (p.A191_P194del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2884945_2884956del" "" "VUS" "" "0000321958" "0" "50" "11" "2906320" "2906320" "subst" "0" "01804" "CDKN1C_000073" "g.2906320C>G" "" "" "" "CDKN1C(NM_001122630.2):c.367G>C (p.(Glu123Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2885090C>G" "" "VUS" "" "0000321959" "0" "50" "11" "2906329" "2906329" "subst" "0" "01804" "CDKN1C_000075" "g.2906329C>T" "" "" "" "CDKN1C(NM_000076.2):c.391G>A (p.(Glu131Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2885099C>T" "" "VUS" "" "0000321960" "0" "50" "11" "2906700" "2906700" "subst" "0" "01804" "CDKN1C_000077" "g.2906700C>T" "" "" "" "CDKN1C(NM_000076.2):c.20G>A (p.(Arg7His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2885470C>T" "" "VUS" "" "0000321961" "0" "50" "11" "2906858" "2906858" "subst" "0" "01804" "CDKN1C_000079" "g.2906858G>A" "" "" "" "CDKN1C(NM_000076.2):c.-139C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2885628G>A" "" "VUS" "" "0000321964" "0" "30" "11" "2909505" "2909505" "subst" "0" "01804" "SLC22A18AS_000003" "g.2909505T>G" "" "" "" "SLC22A18AS(NM_007105.2):c.667A>C (p.(Asn223His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2888275T>G" "" "likely benign" "" "0000321965" "0" "30" "11" "2909512" "2909512" "dup" "0" "01804" "SLC22A18AS_000004" "g.2909512dup" "" "" "" "SLC22A18AS(NM_007105.2):c.666dup (p.(Asn223Glnfs*8))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2888282dup" "" "likely benign" "" "0000321967" "0" "30" "11" "2909513" "2909513" "subst" "0.00744177" "01804" "SLC22A18AS_000006" "g.2909513C>G" "" "" "" "SLC22A18AS(NM_007105.2):c.659G>C (p.(Arg220Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2888283C>G" "" "likely benign" "" "0000321969" "0" "50" "11" "2909513" "2909513" "subst" "0.000523653" "01804" "SLC22A18AS_000007" "g.2909513C>T" "" "" "" "SLC22A18AS(NM_007105.2):c.659G>A (p.(Arg220His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2888283C>T" "" "VUS" "" "0000321970" "0" "50" "11" "2909513" "2909513" "del" "0" "01804" "SLC22A18AS_000008" "g.2909513del" "" "" "" "SLC22A18AS(NM_007105.2):c.659del (p.(Arg220ProfsTer13))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2888283del" "" "VUS" "" "0000321971" "0" "50" "11" "2909518" "2909518" "dup" "0" "01804" "SLC22A18AS_000009" "g.2909518dup" "" "" "" "SLC22A18AS(NM_007105.2):c.658dupC (p.(Arg220ProfsTer11))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2888288dup" "" "VUS" "" "0000321972" "0" "50" "11" "2909523" "2909523" "subst" "0.000286425" "01804" "SLC22A18AS_000010" "g.2909523C>T" "" "" "" "SLC22A18AS(NM_007105.2):c.649G>A (p.(Gly217Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2888293C>T" "" "VUS" "" "0000351088" "0" "30" "11" "2906803" "2906803" "subst" "0" "02327" "CDKN1C_000080" "g.2906803C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2885573C>T" "" "likely benign" "" "0000543696" "0" "30" "11" "2905149" "2905149" "subst" "0" "01943" "CDKN1C_000081" "g.2905149C>T" "" "" "" "CDKN1C(NM_000076.2):c.*6-4G>A, CDKN1C(NM_001122630.2):c.*6-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2883919C>T" "" "likely benign" "" "0000543698" "0" "50" "11" "2905337" "2905337" "subst" "0" "01943" "CDKN1C_000083" "g.2905337G>A" "" "" "" "CDKN1C(NM_000076.2):c.848C>T (p.A283V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2884107G>A" "" "VUS" "" "0000543699" "0" "50" "11" "2905346" "2905346" "subst" "0" "02329" "CDKN1C_000084" "g.2905346T>C" "" "" "" "CDKN1C(NM_000076.2):c.839A>G (p.K280R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2884116T>C" "" "VUS" "" "0000543700" "0" "30" "11" "2905354" "2905354" "subst" "0" "01943" "CDKN1C_000085" "g.2905354G>A" "" "" "" "CDKN1C(NM_000076.2):c.831C>T (p.A277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2884124G>A" "" "likely benign" "" "0000543703" "0" "30" "11" "2906085" "2906186" "del" "0" "01804" "CDKN1C_000088" "g.2906085_2906186del" "" "" "" "CDKN1C(NM_000076.2):c.548_649del (p.(Ala183_Pro216del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2884855_2884956del" "" "likely benign" "" "0000543708" "0" "30" "11" "2906110" "2906110" "subst" "0" "01804" "CDKN1C_000092" "g.2906110G>C" "" "" "" "CDKN1C(NM_000076.2):c.610C>G (p.(Pro204Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2884880G>C" "" "likely benign" "" "0000543713" "0" "30" "11" "2906175" "2906186" "del" "0" "01943" "CDKN1C_000046" "g.2906175_2906186del" "" "" "" "CDKN1C(NM_000076.2):c.543_554del (p.(Ala191_Pro194del)), CDKN1C(NM_000076.2):c.543_554delCCCGGCCCCGGC (p.A191_P194del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2884945_2884956del" "" "likely benign" "" "0000543716" "0" "10" "11" "2906192" "2906192" "subst" "0.0137615" "01943" "CDKN1C_000095" "g.2906192C>G" "" "" "" "CDKN1C(NM_000076.2):c.528G>C (p.A176=, p.(Ala176=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2884962C>G" "" "benign" "" "0000543717" "0" "30" "11" "2906212" "2906212" "subst" "0" "01943" "CDKN1C_000096" "g.2906212C>T" "" "" "" "CDKN1C(NM_000076.2):c.508G>A (p.A170T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2884982C>T" "" "likely benign" "" "0000543718" "0" "30" "11" "2906224" "2906235" "del" "0" "01804" "CDKN1C_000069" "g.2906224_2906235del" "" "" "" "CDKN1C(NM_000076.2):c.512_523del (p.(Ala171_Ala174del)), CDKN1C(NM_000076.2):c.512_523delCTCCGGTCGCGG (p.A171_A174del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2884994_2885005del" "" "likely benign" "" "0000543719" "0" "30" "11" "2906264" "2906264" "subst" "0.000448029" "01943" "CDKN1C_000097" "g.2906264C>T" "" "" "" "CDKN1C(NM_000076.2):c.456G>A (p.P152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2885034C>T" "" "likely benign" "" "0000543720" "0" "50" "11" "2906292" "2906292" "subst" "0" "01943" "CDKN1C_000098" "g.2906292G>T" "" "" "" "CDKN1C(NM_000076.2):c.428C>A (p.A143D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2885062G>T" "" "VUS" "" "0000543721" "0" "30" "11" "2906337" "2906337" "subst" "0" "01804" "CDKN1C_000099" "g.2906337C>A" "" "" "" "CDKN1C(NM_000076.2):c.383G>T (p.(Gly128Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2885107C>A" "" "likely benign" "" "0000543722" "0" "30" "11" "2906365" "2906365" "subst" "0" "01804" "CDKN1C_000100" "g.2906365G>A" "" "" "" "CDKN1C(NM_000076.2):c.355C>T (p.(Leu119Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2885135G>A" "" "likely benign" "" "0000543723" "0" "30" "11" "2906376" "2906376" "subst" "0" "02327" "CDKN1C_000101" "g.2906376A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2885146A>C" "" "likely benign" "" "0000543725" "0" "30" "11" "2909450" "2909450" "subst" "0" "01804" "CDKN1C_000102" "g.2909450G>A" "" "" "" "SLC22A18AS(NM_007105.2):c.722C>T (p.(Thr241Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2888220G>A" "" "likely benign" "" "0000543726" "0" "30" "11" "2909503" "2909503" "dup" "0" "01804" "CDKN1C_000103" "g.2909503dup" "" "" "" "SLC22A18AS(NM_007105.2):c.672dupC (p.(Ala225ArgfsTer6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2888273dup" "" "likely benign" "" "0000543727" "0" "30" "11" "2909504" "2909504" "subst" "0" "01804" "CDKN1C_000104" "g.2909504T>G" "" "" "" "SLC22A18AS(NM_007105.2):c.668A>C (p.(Asn223Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2888274T>G" "" "likely benign" "" "0000543728" "0" "30" "11" "2909511" "2909512" "dup" "0" "01804" "CDKN1C_000105" "g.2909511_2909512dup" "" "" "" "SLC22A18AS(NM_007105.2):c.666_667insCC (p.(Asn223ProfsTer11))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2888281_2888282dup" "" "likely benign" "" "0000543731" "0" "30" "11" "2909582" "2909582" "subst" "0.00276863" "01804" "CDKN1C_000108" "g.2909582G>T" "" "" "" "SLC22A18AS(NM_007105.2):c.590C>A (p.(Ala197Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2888352G>T" "" "likely benign" "" "0000599051" "0" "10" "11" "2906224" "2906235" "del" "0" "02337" "CDKN1C_000044" "g.2906224_2906235del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.2884994_2885005del" "" "benign" "" "0000613315" "0" "30" "11" "2906089" "2906090" "ins" "0" "01804" "CDKN1C_000111" "g.2906089_2906090insCGGTGC" "" "" "" "CDKN1C(NM_000076.2):c.632_633insACCGGC (p.(Ala215_Pro216dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2884859_2884860insCGGTGC" "" "likely benign" "" "0000613316" "0" "50" "11" "2906159" "2906170" "dup" "0" "01804" "CDKN1C_000112" "g.2906159_2906170dup" "" "" "" "CDKN1C(NM_000076.2):c.572_573insTCCGGCTCCGGC (p.(Ala191_Pro194dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2884929_2884940dup" "" "VUS" "" "0000613317" "0" "30" "11" "2906603" "2906603" "subst" "0" "01943" "CDKN1C_000114" "g.2906603G>A" "" "" "" "CDKN1C(NM_000076.2):c.117C>T (p.H39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2885373G>A" "" "likely benign" "" "0000613318" "0" "50" "11" "2909495" "2909495" "subst" "0" "01804" "CDKN1C_000115" "g.2909495A>G" "" "" "" "SLC22A18AS(NM_007105.2):c.677T>C (p.(Leu226Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2888265A>G" "" "VUS" "" "0000613319" "0" "50" "11" "2909512" "2909513" "ins" "0" "01804" "CDKN1C_000116" "g.2909512_2909513insTGGGGGGGG" "" "" "" "SLC22A18AS(NM_007105.2):c.666_667insCACCCCCCC (p.(Pro222_Asn223insHisProPro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2888282_2888283insTGGGGGGGG" "" "VUS" "" "0000622620" "0" "50" "11" "2906455" "2906455" "subst" "0" "01943" "CDKN1C_000113" "g.2906455C>T" "" "" "" "CDKN1C(NM_000076.2):c.265G>A (p.A89T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2885225C>T" "" "VUS" "" "0000631924" "0" "70" "11" "2905350" "2905350" "subst" "0" "01807" "CDKN1C_000117" "g.2905350G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2884120G>T" "" "likely pathogenic" "" "0000648233" "1" "90" "11" "2905353" "2905353" "subst" "0" "03575" "CDKN1C_000118" "g.2905353T>C" "7/2753 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs387907226}" "Germline" "" "rs387907226" "0" "" "" "g.2884123T>C" "" "pathogenic" "" "0000656770" "0" "70" "11" "2905209" "2905209" "subst" "1.27637E-5" "02327" "CDKN1C_000043" "g.2905209C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2883979C>A" "" "likely pathogenic" "" "0000656771" "0" "30" "11" "2905985" "2905985" "subst" "0.000126273" "01943" "CDKN1C_000119" "g.2905985C>T" "" "" "" "CDKN1C(NM_000076.2):c.735G>A (p.G245=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2884755C>T" "" "likely benign" "" "0000656772" "0" "90" "11" "2905994" "2905994" "dup" "0" "02325" "CDKN1C_000120" "g.2905994dup" "" "" "" "CDKN1C(NM_000076.2):c.726dupG (p.H243Afs*43)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2884764dup" "" "pathogenic" "" "0000656773" "0" "30" "11" "2906192" "2906192" "subst" "0.0137615" "02327" "CDKN1C_000095" "g.2906192C>G" "" "" "" "CDKN1C(NM_000076.2):c.528G>C (p.A176=, p.(Ala176=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2884962C>G" "" "likely benign" "" "0000656774" "0" "50" "11" "2906240" "2906251" "del" "0" "01943" "CDKN1C_000121" "g.2906240_2906251del" "" "" "" "CDKN1C(NM_000076.2):c.471_482delCCCGGCCCCGGC (p.A161_P164del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2885010_2885021del" "" "VUS" "" "0000679167" "0" "30" "11" "2906135" "2906135" "subst" "0" "01943" "CDKN1C_000123" "g.2906135G>A" "" "" "" "CDKN1C(NM_000076.2):c.585C>T (p.V195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691044" "0" "30" "11" "2906195" "2906195" "subst" "0" "01943" "CDKN1C_000124" "g.2906195G>C" "" "" "" "CDKN1C(NM_000076.2):c.525C>G (p.V175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000699846" "0" "50" "11" "0" "0" "" "0" "00006" "DRD4_000002" "g.?" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000723406" "0" "50" "11" "2905325" "2905325" "subst" "0" "01943" "CDKN1C_000082" "g.2905325G>A" "" "" "" "CDKN1C(NM_000076.2):c.860C>T (p.S287L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723407" "0" "50" "11" "2906614" "2906614" "subst" "0" "01943" "CDKN1C_000125" "g.2906614G>T" "" "" "" "CDKN1C(NM_000076.2):c.106C>A (p.P36T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723408" "0" "30" "11" "2906636" "2906636" "subst" "0" "01943" "CDKN1C_000126" "g.2906636G>A" "" "" "" "CDKN1C(NM_000076.2):c.84C>T (p.S28=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723409" "0" "30" "11" "2906687" "2906687" "subst" "7.02356E-6" "01943" "CDKN1C_000127" "g.2906687C>A" "" "" "" "CDKN1C(NM_000076.2):c.33G>T (p.T11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805082" "0" "30" "11" "2905297" "2905297" "subst" "0" "01943" "CDKN1C_000128" "g.2905297G>A" "" "" "" "CDKN1C(NM_000076.2):c.888C>T (p.P296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805083" "0" "30" "11" "2906012" "2906012" "subst" "0.00386852" "01804" "CDKN1C_000062" "g.2906012C>T" "" "" "" "CDKN1C(NM_000076.2):c.708G>A (p.E236=, p.(Glu236=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805084" "0" "30" "11" "2906621" "2906621" "subst" "0" "01943" "CDKN1C_000129" "g.2906621G>A" "" "" "" "CDKN1C(NM_000076.2):c.99C>T (p.L33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000831172" "0" "10" "11" "2906051" "2906051" "subst" "0.000158622" "03779" "CDKN1C_000130" "g.2906051G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs540923047" "0" "" "" "" "" "benign" "" "0000833995" "21" "90" "11" "2905359" "2905363" "delins" "0" "00006" "CDKN1C_000131" "g.2905359_2905363delinsCAGCTC" "" "{PMID:Berland 2022:33443097}" "" "" "asymptomatic mother inherited variant from mosaic father" "Germline" "" "" "0" "" "" "g.2884129_2884133delinsCAGCTC" "" "pathogenic (maternal)" "" "0000862499" "0" "50" "11" "2905307" "2905307" "subst" "0" "01943" "CDKN1C_000060" "g.2905307G>A" "" "" "" "CDKN1C(NM_000076.2):c.878C>T (p.A293V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862500" "0" "50" "11" "2906165" "2906170" "dup" "0" "01804" "CDKN1C_000132" "g.2906165_2906170dup" "" "" "" "CDKN1C(NM_000076.2):c.572_573insTCCGGC (p.(Ala193_Pro194dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862501" "0" "30" "11" "2906175" "2906186" "del" "0" "02326" "CDKN1C_000046" "g.2906175_2906186del" "" "" "" "CDKN1C(NM_000076.2):c.543_554del (p.(Ala191_Pro194del)), CDKN1C(NM_000076.2):c.543_554delCCCGGCCCCGGC (p.A191_P194del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862502" "0" "30" "11" "2906192" "2906192" "subst" "0.0137615" "01804" "CDKN1C_000095" "g.2906192C>G" "" "" "" "CDKN1C(NM_000076.2):c.528G>C (p.A176=, p.(Ala176=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867910" "0" "70" "11" "2906317" "2906317" "subst" "0" "03779" "CDKN1C_000133" "g.2906317G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000889795" "0" "30" "11" "2906192" "2906192" "subst" "0.0137615" "02326" "CDKN1C_000095" "g.2906192C>G" "" "" "" "CDKN1C(NM_000076.2):c.528G>C (p.A176=, p.(Ala176=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000905142" "0" "50" "11" "2906892" "2906892" "subst" "0" "03779" "CDKN1C_000136" "g.2906892G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000905143" "0" "90" "11" "2906044" "2906044" "subst" "0" "03779" "CDKN1C_000134" "g.2906044G>A" "" "" "" "" "" "Unknown" "" "rs483352987" "0" "" "" "" "" "pathogenic" "" "0000905145" "0" "90" "11" "2906044" "2906044" "subst" "0" "03779" "CDKN1C_000134" "g.2906044G>A" "" "" "" "" "" "Unknown" "" "rs483352987" "0" "" "" "" "" "pathogenic" "" "0000905225" "0" "70" "11" "2906512" "2906513" "delins" "0" "03779" "CDKN1C_000135" "g.2906512_2906513delinsTT" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000906237" "0" "50" "11" "2906892" "2906892" "subst" "0" "03779" "CDKN1C_000136" "g.2906892G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000913566" "0" "50" "11" "2905968" "2905968" "subst" "0" "02329" "CDKN1C_000137" "g.2905968G>A" "" "" "" "CDKN1C(NM_000076.2):c.752C>T (p.A251V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913567" "0" "30" "11" "2906108" "2906119" "del" "0" "02329" "CDKN1C_000048" "g.2906108_2906119del" "" "" "" "CDKN1C(NM_000076.2):c.618_629del (p.(Ala213_Pro216del)), CDKN1C(NM_000076.2):c.618_629delGGCCCCGGCCCC (p.A213_P216del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913568" "0" "10" "11" "2906165" "2906165" "subst" "0.220339" "02325" "CDKN1C_000068" "g.2906165A>G" "" "" "" "CDKN1C(NM_000076.2):c.537_555delCCCGGCCCCGGCCCCGGCTinsCCCGGCCCCGGCCCCGGCC (p.A179_A185=), CDKN1C(NM_000076.2):c.543_555delCCCGGCCCCGGCTinsCCCGGCCCC..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913569" "0" "50" "11" "2906181" "2906186" "del" "0" "01804" "CDKN1C_000138" "g.2906181_2906186del" "" "" "" "CDKN1C(NM_000076.2):c.549_554del (p.(Ala193_Pro194del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913570" "0" "30" "11" "2906192" "2906192" "subst" "0.0137615" "02329" "CDKN1C_000095" "g.2906192C>G" "" "" "" "CDKN1C(NM_000076.2):c.528G>C (p.A176=, p.(Ala176=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913571" "0" "50" "11" "2906305" "2906305" "subst" "0" "02325" "CDKN1C_000139" "g.2906305C>T" "" "" "" "CDKN1C(NM_000076.2):c.415G>A (p.V139I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925372" "0" "30" "11" "2906648" "2906648" "subst" "0.00024893" "02326" "CDKN1C_000140" "g.2906648T>C" "" "" "" "CDKN1C(NM_000076.2):c.72A>G (p.L24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929848" "0" "30" "11" "2906224" "2906235" "del" "0" "02325" "CDKN1C_000044" "g.2906224_2906235del" "" "" "" "CDKN1C(NM_000076.2):c.512_523del (p.(Ala171_Ala174del)), CDKN1C(NM_000076.2):c.512_523delCTCCGGTCGCGG (p.A171_A174del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929849" "0" "30" "11" "2906276" "2906276" "subst" "0.000716332" "02326" "CDKN1C_000141" "g.2906276C>T" "" "" "" "CDKN1C(NM_000076.2):c.444G>A (p.P148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949648" "0" "30" "11" "2905241" "2905241" "subst" "0" "01804" "CDKN1C_000142" "g.2905241A>G" "" "" "" "CDKN1C(NM_000076.2):c.944T>C (p.(Leu315Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000952230" "21" "90" "11" "2905994" "2905994" "dup" "0" "00006" "CDKN1C_000120" "g.2905994dup" "" "{PMID:Imafidon 2021:34136434}" "" "" "" "Germline" "" "" "0" "" "" "g.2884764dup" "" "pathogenic (dominant)" "" "0000966322" "0" "10" "11" "2906165" "2906165" "subst" "0.220339" "02329" "CDKN1C_000068" "g.2906165A>G" "" "" "" "CDKN1C(NM_000076.2):c.537_555delCCCGGCCCCGGCCCCGGCTinsCCCGGCCCCGGCCCCGGCC (p.A179_A185=), CDKN1C(NM_000076.2):c.543_555delCCCGGCCCCGGCTinsCCCGGCCCC..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000966323" "0" "30" "11" "2906175" "2906186" "del" "0" "02329" "CDKN1C_000046" "g.2906175_2906186del" "" "" "" "CDKN1C(NM_000076.2):c.543_554del (p.(Ala191_Pro194del)), CDKN1C(NM_000076.2):c.543_554delCCCGGCCCCGGC (p.A191_P194del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966324" "0" "30" "11" "2906224" "2906235" "del" "0" "02329" "CDKN1C_000044" "g.2906224_2906235del" "" "" "" "CDKN1C(NM_000076.2):c.512_523del (p.(Ala171_Ala174del)), CDKN1C(NM_000076.2):c.512_523delCTCCGGTCGCGG (p.A171_A174del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966325" "0" "50" "11" "2906346" "2906346" "subst" "0" "02325" "CDKN1C_000143" "g.2906346G>T" "" "" "" "CDKN1C(NM_000076.2):c.374C>A (p.S125Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979541" "0" "30" "11" "2905299" "2905299" "subst" "7.44108E-5" "02325" "CDKN1C_000059" "g.2905299G>A" "" "" "" "CDKN1C(NM_000076.2):c.886C>T (p.P296S, p.(Pro296Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998977" "0" "50" "11" "2905912" "2905912" "subst" "0" "01804" "CDKN1C_000144" "g.2905912G>A" "" "" "" "CDKN1C(NM_001122630.1):c.775C>T (p.(Pro259Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998978" "0" "30" "11" "2906046" "2906046" "subst" "0" "01804" "CDKN1C_000145" "g.2906046T>A" "" "" "" "CDKN1C(NM_001122630.1):c.641A>T (p.(Glu214Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998979" "0" "30" "11" "2906047" "2906047" "subst" "0" "01804" "CDKN1C_000146" "g.2906047C>G" "" "" "" "CDKN1C(NM_001122630.1):c.640G>C (p.(Glu214Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998980" "0" "30" "11" "2906116" "2906116" "subst" "0" "01804" "CDKN1C_000147" "g.2906116G>C" "" "" "" "CDKN1C(NM_000076.2):c.604C>G (p.(Pro202Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998981" "0" "50" "11" "2906248" "2906248" "subst" "0" "01804" "CDKN1C_000148" "g.2906248G>C" "" "" "" "CDKN1C(NM_000076.2):c.472C>G (p.(Pro158Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998982" "0" "50" "11" "2906392" "2906392" "subst" "0" "01804" "CDKN1C_000149" "g.2906392C>A" "" "" "" "CDKN1C(NM_001122630.1):c.295G>T (p.(Ala99Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998983" "0" "50" "11" "2906457" "2906457" "subst" "0" "01804" "CDKN1C_000150" "g.2906457G>A" "" "" "" "CDKN1C(NM_001122630.1):c.230C>T (p.(Pro77Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014788" "0" "50" "11" "2906703" "2906703" "subst" "4.98256E-5" "02327" "CDKN1C_000151" "g.2906703A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025967" "0" "30" "11" "2906381" "2906381" "subst" "1.69993E-5" "02329" "CDKN1C_000152" "g.2906381C>T" "" "" "" "CDKN1C(NM_000076.2):c.339G>A (p.V113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038419" "0" "30" "11" "2905149" "2905149" "subst" "0" "01804" "CDKN1C_000081" "g.2905149C>T" "" "" "" "CDKN1C(NM_000076.2):c.*6-4G>A, CDKN1C(NM_001122630.2):c.*6-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038420" "0" "50" "11" "2905376" "2905376" "subst" "0" "01804" "CDKN1C_000153" "g.2905376A>T" "" "" "" "CDKN1C(NM_001122630.2):c.788-12T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053771" "0" "50" "11" "2905137" "2905137" "subst" "0" "01804" "CDKN1C_000154" "g.2905137G>A" "" "" "" "CDKN1C(NM_001362475.2):c.395C>T (p.(Pro132Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes CDKN1C ## Count = 187 "{{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}}" "{{VariantOnTranscript/Protein/Domain}}" "0000036185" "00004875" "95" "836" "0" "836" "0" "c.836G>T" "r.(?)" "p.(Arg279Leu)" "2" "III" "0000036189" "00004875" "95" "815" "0" "815" "0" "c.815T>G" "r.(?)" "p.(Ile272Ser)" "1" "III" "0000036190" "00004875" "95" "819" "0" "819" "0" "c.819G>A" "r.(?)" "p.(Asp274Asn)" "1" "III" "0000036191" "00004875" "95" "825" "0" "825" "0" "c.825T>G" "r.(?)" "p.(Phe276Val)" "2" "III" "0000036192" "00004875" "95" "826" "0" "826" "0" "c.826T>C" "r.(?)" "p.(Phe276Ser)" "2" "III" "0000036193" "00004875" "95" "831" "0" "831" "0" "c.831A>G" "r.(?)" "p.(Lys278Glu)" "2" "III" "0000036194" "00004875" "95" "835" "0" "835" "0" "c.835G>C" "r.(?)" "p.(Arg279Pro)" "2" "III" "0000036195" "00004875" "95" "11" "0" "11" "0" "c.11C>T" "r.(?)" "p.(A4V)" "1" "I" "0000036196" "00004875" "95" "98" "0" "98" "0" "c.98T>A" "r.(?)" "p.(L33H)" "1" "I" "0000036197" "00004875" "95" "98" "0" "98" "0" "c.98T>G" "r.(?)" "p.(Leu33Arg)" "1" "I" "0000036198" "00004875" "95" "105" "0" "105" "0" "c.105del" "r.(?)" "p.(Pro36ArgfsTer7)" "1" "I" "0000036199" "00004875" "95" "125" "0" "125" "0" "c.125T>C" "r.(?)" "p.(L42P)" "1" "I" "0000036200" "00004875" "95" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Q47*)" "1" "I" "0000036201" "00004875" "95" "149" "0" "149" "0" "c.149T>C" "r.(?)" "p.(L50P)" "1" "I" "0000036202" "00004875" "95" "181" "0" "181" "0" "c.181T>C" "r.(?)" "p.(W61R)" "1" "I" "0000036203" "00004875" "95" "185" "0" "193" "0" "c.185_193del" "r.(?)" "p.(Asp62_Phe65delinsVal)" "1" "I" "0000036204" "00004875" "95" "187" "0" "187" "0" "c.187T>A" "r.(?)" "p.(Y63N)" "1" "I" "0000036205" "00004875" "95" "209" "0" "209" "0" "c.209C>T" "r.(?)" "p.(P70L)" "1" "I" "0000036206" "00004875" "95" "232" "0" "232" "0" "c.232C>T" "r.(?)" "p.(Q78*)" "1" "I" "0000036207" "00004875" "95" "271" "0" "271" "0" "c.271T>C" "r.(?)" "p.(Y91H)" "1" "I" "0000036208" "00004875" "95" "310" "0" "311" "0" "c.310_311delinsG" "r.(?)" "p.(Leu104Glyfs*168)" "1" "I" "0000036209" "00004875" "95" "391" "0" "392" "0" "c.391_392insT" "r.(?)" "p.(E131fs*8)" "1" "I/II" "0000036210" "00004875" "95" "460" "0" "460" "0" "c.460del" "r.(?)" "p.(Leu154TrpfsTer118)" "1" "I/II" "0000036211" "00004875" "95" "461" "0" "461" "0" "c.461del" "r.(?)" "p.(Leu154ArgfsTer118)" "1" "I/II" "0000036212" "00004875" "95" "499" "0" "514" "0" "c.499_514del" "r.(?)" "p.(Ala167Argfs*100)" "1" "II" "0000036213" "00004875" "95" "579" "0" "579" "0" "c.579del" "r.(?)" "p.(Pro194GlnfsTer78)" "1" "II" "0000036214" "00004875" "95" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Q232*)" "1" "III" "0000036215" "00004875" "95" "701" "0" "701" "0" "c.701del" "r.(?)" "p.(Gly234AlafsTer38)" "1" "III" "0000036216" "00004875" "95" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Q241*)" "1" "III" "0000036217" "00004875" "95" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Gln241*)" "1" "III" "0000036218" "00004875" "95" "740" "0" "740" "0" "c.740C>A" "r.(?)" "p.(S247*)" "1" "III" "0000036219" "00004875" "95" "759" "0" "759" "0" "c.759del" "r.(?)" "p.(Thr254ProfsTer18)" "1" "III" "0000036220" "00004875" "95" "785" "0" "786" "0" "c.785_786del" "r.(?)" "p.(Ala262Glyfs*23)" "1" "III" "0000036221" "00004875" "95" "821" "-3" "821" "-3" "c.821-3C>G" "r.spl?" "p.?" "1i" "III" "0000036222" "00004875" "95" "821" "-2" "821" "-2" "c.821-2A>G" "r.spl" "p.?" "1i" "III" "0000036223" "00004875" "95" "826" "0" "826" "0" "c.826delinsAG" "r.(?)" "p.(Phe276Serfs*10)" "2" "III" "0000036224" "00004875" "95" "845" "0" "845" "0" "c.845C>G" "r.(?)" "p.(S282*)" "2" "III" "0000036225" "00004875" "95" "845" "0" "845" "0" "c.845C>G" "r.(?)" "p.(S282*)" "2" "III" "0000036226" "00004875" "95" "845" "0" "845" "0" "c.845C>A" "r.(?)" "p.(S282*)" "2" "III" "0000036227" "00004875" "95" "845" "0" "845" "0" "c.845del" "r.(?)" "p.(Ser282Ter)" "2" "III" "0000036228" "00004875" "95" "946" "0" "946" "0" "c.946C>T" "r.(?)" "p.(R316W)" "2" "III" "0000036229" "00004875" "95" "688" "0" "688" "0" "c.688C>T" "r.(?)" "p.(Gln230*)" "1" "" "0000036230" "00004875" "75" "956" "20" "956" "20" "c.*5+20G>T" "r.spl" "p.(=)" "2i" "" "0000036231" "00004875" "35" "512" "0" "523" "0" "c.512_523del" "r.512_523del" "p.Ala171_Ala174del" "1" "" "0000036232" "00004875" "35" "956" "24" "956" "24" "c.*5+24dupG" "r.0" "p.0" "2i" "" "0000036233" "00004875" "15" "956" "24" "956" "24" "c.*5+24dup" "r.(=)" "p.=" "2i" "" "0000036234" "00004875" "35" "512" "0" "523" "0" "c.512_523del" "r.(?)" "p.(Ala171_Ala174del)" "1" "" "0000036235" "00004875" "55" "543" "0" "554" "0" "c.543_554del" "r.(?)" "p.(Ala191_Pro194del)" "1" "" "0000036236" "00004875" "55" "600" "0" "611" "0" "c.600_611del" "r.(?)" "p.(Ala213_Pro216del)" "1" "" "0000036237" "00004875" "55" "618" "0" "629" "0" "c.618_629del" "r.(?)" "p.(Ala213_Pro216del)" "1" "" "0000037556" "00004875" "50" "512" "0" "523" "0" "c.512_523del" "r.(?)" "p.(Ala171_Ala174del)" "" "" "0000055899" "00004875" "50" "211" "0" "232" "0" "c.211_232del" "r.(?)" "p.(Leu71Serfs*194)" "1" "" "0000055971" "00004875" "70" "673" "0" "673" "0" "c.673G>T" "r.(?)" "p.(Glu225*)" "1" "" "0000055977" "00004875" "70" "235" "0" "235" "0" "c.235T>C" "r.(?)" "p.(Trp79Arg)" "1" "" "0000055979" "00004875" "70" "638" "0" "649" "0" "c.638_649del" "r.(?)" "p.(Ala213_Pro216del)" "1" "" "0000058601" "00004875" "70" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Gln241*)" "1" "" "0000058602" "00004875" "70" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Gln232*)" "1" "" "0000058603" "00004875" "70" "105" "0" "105" "0" "c.105del" "r.(?)" "p.(Pro36Argfs*7)" "1" "" "0000058604" "00004875" "70" "946" "0" "946" "0" "c.946C>T" "r.(?)" "p.(Arg316Trp)" "2" "" "0000058605" "00004875" "70" "845" "0" "845" "0" "c.845C>G" "r.(?)" "p.(Ser282*)" "2" "" "0000058622" "00004875" "70" "878" "0" "878" "0" "c.878del" "r.(?)" "p.(Ala293Glyfs*28)" "2" "" "0000058623" "00004875" "70" "766" "0" "766" "0" "c.766G>T" "r.(?)" "p.(Ala256Ser)" "1" "" "0000062352" "00004875" "10" "956" "24" "956" "24" "c.*5+24dup" "r.(=)" "p.(=)" "" "" "0000062353" "00004875" "10" "512" "0" "523" "0" "c.512_523del" "r.(?)" "p.(Ala171_Ala174del)" "" "" "0000129090" "00004875" "90" "0" "0" "0" "0" "c.ins(?_-1)_(*1_?)" "r.?" "p.?" "_1_3_" "" "0000129092" "00004875" "90" "-8388608" "0" "8388607" "0" "c.?_?ins-276_*703" "r.?" "p.?" "_1_3_" "" "0000129094" "00004875" "90" "-8388608" "0" "8388607" "0" "c.?_?ins-276_*703" "r.?" "p.?" "_1_3_" "" "0000188631" "00004875" "90" "836" "0" "836" "0" "c.836G>T" "r.(?)" "p.(Arg279Leu)" "2" "" "0000188632" "00004875" "90" "836" "0" "836" "0" "c.836G>T" "r.(?)" "p.(Arg279Leu)" "3" "" "0000188633" "00004875" "90" "836" "0" "836" "0" "c.836G>T" "r.(?)" "p.(Arg279Leu)" "2" "" "0000251801" "00004875" "30" "555" "0" "555" "0" "c.555T>C" "r.(?)" "p.(Ala185=)" "" "" "0000266623" "00004875" "10" "956" "24" "956" "24" "c.*5+24dup" "r.(=)" "p.(=)" "" "" "0000269939" "00004875" "10" "-85" "0" "-85" "0" "c.-85G>A" "r.(?)" "p.(=)" "" "" "0000269940" "00004875" "10" "512" "0" "523" "0" "c.512_523del" "r.(?)" "p.(Ala171_Ala174del)" "" "" "0000269941" "00004875" "10" "600" "0" "600" "0" "c.600A>G" "r.(?)" "p.(Pro200=)" "" "" "0000269942" "00004875" "10" "618" "0" "629" "0" "c.618_629del" "r.(?)" "p.(Ala213_Pro216del)" "" "" "0000269943" "00004875" "10" "624" "0" "629" "0" "c.624_629del" "r.(?)" "p.(Ala215_Pro216del)" "" "" "0000273065" "00004875" "30" "246" "0" "246" "0" "c.246G>A" "r.(?)" "p.(Val82=)" "" "" "0000273066" "00004875" "50" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Pro133Ser)" "" "" "0000273067" "00004875" "30" "409" "0" "409" "0" "c.409C>G" "r.(?)" "p.(Pro137Ala)" "" "" "0000273068" "00004875" "50" "491" "0" "491" "0" "c.491C>T" "r.(?)" "p.(Pro164Leu)" "" "" "0000273069" "00004875" "10" "618" "0" "629" "0" "c.618_629del" "r.(?)" "p.(Ala213_Pro216del)" "" "" "0000273070" "00004875" "30" "624" "0" "624" "0" "c.624G>C" "r.(?)" "p.(Pro208=)" "" "" "0000273071" "00004875" "10" "708" "0" "708" "0" "c.708G>A" "r.(?)" "p.(Glu236=)" "" "" "0000273072" "00004875" "30" "886" "0" "886" "0" "c.886C>T" "r.(?)" "p.(Pro296Ser)" "" "" "0000273073" "00004875" "30" "930" "0" "930" "0" "c.930C>A" "r.(?)" "p.(Thr310=)" "" "" "0000321949" "00004875" "50" "886" "0" "886" "0" "c.886C>T" "r.(?)" "p.(Pro296Ser)" "" "" "0000321951" "00004875" "30" "821" "-5" "821" "-5" "c.821-5C>T" "r.spl?" "p.?" "" "" "0000321954" "00004875" "30" "618" "0" "629" "0" "c.618_629del" "r.(?)" "p.(Ala213_Pro216del)" "" "" "0000321955" "00004875" "50" "543" "0" "554" "0" "c.543_554del" "r.(?)" "p.(Ala191_Pro194del)" "" "" "0000321958" "00004875" "50" "400" "0" "400" "0" "c.400G>C" "r.(?)" "p.(Glu134Gln)" "" "" "0000321959" "00004875" "50" "391" "0" "391" "0" "c.391G>A" "r.(?)" "p.(Glu131Lys)" "" "" "0000321960" "00004875" "50" "20" "0" "20" "0" "c.20G>A" "r.(?)" "p.(Arg7His)" "" "" "0000321961" "00004875" "50" "-139" "0" "-139" "0" "c.-139C>T" "r.(?)" "p.(=)" "" "" "0000321964" "00004875" "30" "-2786" "0" "-2786" "0" "c.-2786A>C" "r.(?)" "p.(=)" "" "" "0000321965" "00004875" "30" "-2787" "0" "-2787" "0" "c.-2787dup" "r.(?)" "p.(=)" "" "" "0000321967" "00004875" "30" "-2794" "0" "-2794" "0" "c.-2794G>C" "r.(?)" "p.(=)" "" "" "0000321969" "00004875" "50" "-2794" "0" "-2794" "0" "c.-2794G>A" "r.(?)" "p.(=)" "" "" "0000321970" "00004875" "50" "-2794" "0" "-2794" "0" "c.-2794del" "r.(?)" "p.(=)" "" "" "0000321971" "00004875" "50" "-2795" "0" "-2795" "0" "c.-2795dup" "r.(?)" "p.(=)" "" "" "0000321972" "00004875" "50" "-2804" "0" "-2804" "0" "c.-2804G>A" "r.(?)" "p.(=)" "" "" "0000351088" "00004875" "30" "-84" "0" "-84" "0" "c.-84G>A" "r.(?)" "p.(=)" "" "" "0000543696" "00004875" "30" "957" "-4" "957" "-4" "c.*6-4G>A" "r.spl?" "p.?" "" "" "0000543698" "00004875" "50" "848" "0" "848" "0" "c.848C>T" "r.(?)" "p.(Ala283Val)" "" "" "0000543699" "00004875" "50" "839" "0" "839" "0" "c.839A>G" "r.(?)" "p.(Lys280Arg)" "" "" "0000543700" "00004875" "30" "831" "0" "831" "0" "c.831C>T" "r.(?)" "p.(Ala277=)" "" "" "0000543703" "00004875" "30" "548" "0" "649" "0" "c.548_649del" "r.(?)" "p.(Ala183_Pro216del)" "" "" "0000543708" "00004875" "30" "610" "0" "610" "0" "c.610C>G" "r.(?)" "p.(Pro204Ala)" "" "" "0000543713" "00004875" "30" "543" "0" "554" "0" "c.543_554del" "r.(?)" "p.(Ala191_Pro194del)" "" "" "0000543716" "00004875" "10" "528" "0" "528" "0" "c.528G>C" "r.(?)" "p.(Ala176=)" "" "" "0000543717" "00004875" "30" "508" "0" "508" "0" "c.508G>A" "r.(?)" "p.(Ala170Thr)" "" "" "0000543718" "00004875" "30" "512" "0" "523" "0" "c.512_523del" "r.(?)" "p.(Ala171_Ala174del)" "" "" "0000543719" "00004875" "30" "456" "0" "456" "0" "c.456G>A" "r.(?)" "p.(Pro152=)" "" "" "0000543720" "00004875" "50" "428" "0" "428" "0" "c.428C>A" "r.(?)" "p.(Ala143Asp)" "" "" "0000543721" "00004875" "30" "383" "0" "383" "0" "c.383G>T" "r.(?)" "p.(Gly128Val)" "" "" "0000543722" "00004875" "30" "355" "0" "355" "0" "c.355C>T" "r.(?)" "p.(Leu119Phe)" "" "" "0000543723" "00004875" "30" "344" "0" "344" "0" "c.344T>G" "r.(?)" "p.(Val115Gly)" "" "" "0000543725" "00004875" "30" "-2731" "0" "-2731" "0" "c.-2731C>T" "r.(?)" "p.(=)" "" "" "0000543726" "00004875" "30" "-2781" "0" "-2781" "0" "c.-2781dup" "r.(?)" "p.(=)" "" "" "0000543727" "00004875" "30" "-2785" "0" "-2785" "0" "c.-2785A>C" "r.(?)" "p.(=)" "" "" "0000543728" "00004875" "30" "-2788" "0" "-2787" "0" "c.-2788_-2787dup" "r.(?)" "p.(=)" "" "" "0000543731" "00004875" "30" "-2863" "0" "-2863" "0" "c.-2863C>A" "r.(?)" "p.(=)" "" "" "0000599051" "00004875" "10" "512" "0" "523" "0" "c.512_523del" "r.(?)" "p.(Ala171_Ala174del)" "1" "" "0000613315" "00004875" "30" "632" "0" "633" "0" "c.632_633insACCGGC" "r.(?)" "p.(Ala215_Pro216dup)" "" "" "0000613316" "00004875" "50" "561" "0" "572" "0" "c.561_572dup" "r.(?)" "p.(Ala191_Pro194dup)" "" "" "0000613317" "00004875" "30" "117" "0" "117" "0" "c.117C>T" "r.(?)" "p.(His39=)" "" "" "0000613318" "00004875" "50" "-2776" "0" "-2776" "0" "c.-2776T>C" "r.(?)" "p.(=)" "" "" "0000613319" "00004875" "50" "-2787" "0" "-2786" "0" "c.-2787_-2786insCACCCCCCC" "r.(?)" "p.(=)" "" "" "0000622620" "00004875" "50" "265" "0" "265" "0" "c.265G>A" "r.(?)" "p.(Ala89Thr)" "" "" "0000631924" "00004875" "70" "835" "0" "835" "0" "c.835C>A" "r.(?)" "p.(Arg279Ser)" "" "" "0000648233" "00004875" "90" "832" "0" "832" "0" "c.832A>G" "r.(?)" "p.(Lys278Glu)" "" "" "0000656770" "00004875" "70" "956" "20" "956" "20" "c.*5+20G>T" "r.(=)" "p.(=)" "" "" "0000656771" "00004875" "30" "735" "0" "735" "0" "c.735G>A" "r.(?)" "p.(Gly245=)" "" "" "0000656772" "00004875" "90" "726" "0" "726" "0" "c.726dup" "r.(?)" "p.(His243AlafsTer43)" "" "" "0000656773" "00004875" "30" "528" "0" "528" "0" "c.528G>C" "r.(?)" "p.(Ala176=)" "" "" "0000656774" "00004875" "50" "471" "0" "482" "0" "c.471_482del" "r.(?)" "p.(Ala161_Pro164del)" "" "" "0000679167" "00004875" "30" "585" "0" "585" "0" "c.585C>T" "r.(?)" "p.(Val195=)" "" "" "0000691044" "00004875" "30" "525" "0" "525" "0" "c.525C>G" "r.(?)" "p.(Val175=)" "" "" "0000699846" "00004875" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Leu6Pro)" "" "" "0000723406" "00004875" "50" "860" "0" "860" "0" "c.860C>T" "r.(?)" "p.(Ser287Leu)" "" "" "0000723407" "00004875" "50" "106" "0" "106" "0" "c.106C>A" "r.(?)" "p.(Pro36Thr)" "" "" "0000723408" "00004875" "30" "84" "0" "84" "0" "c.84C>T" "r.(?)" "p.(Ser28=)" "" "" "0000723409" "00004875" "30" "33" "0" "33" "0" "c.33G>T" "r.(?)" "p.(Thr11=)" "" "" "0000805082" "00004875" "30" "888" "0" "888" "0" "c.888C>T" "r.(?)" "p.(Pro296=)" "" "" "0000805083" "00004875" "30" "708" "0" "708" "0" "c.708G>A" "r.(?)" "p.(Glu236=)" "" "" "0000805084" "00004875" "30" "99" "0" "99" "0" "c.99C>T" "r.(?)" "p.(Leu33=)" "" "" "0000831172" "00004875" "10" "669" "0" "669" "0" "c.669C>T" "r.(?)" "p.(Ser223=)" "" "" "0000833995" "00004875" "90" "822" "0" "826" "0" "c.822_826delinsGAGCTG" "r.[822_826delinsgagctg,821_826delinsagctg]" "p.[Asp274Glufs*12,Asp274GlufsTer47]" "" "" "0000862499" "00004875" "50" "878" "0" "878" "0" "c.878C>T" "r.(?)" "p.(Ala293Val)" "" "" "0000862500" "00004875" "50" "567" "0" "572" "0" "c.567_572dup" "r.(?)" "p.(Ala193_Pro194dup)" "" "" "0000862501" "00004875" "30" "543" "0" "554" "0" "c.543_554del" "r.(?)" "p.(Ala191_Pro194del)" "" "" "0000862502" "00004875" "30" "528" "0" "528" "0" "c.528G>C" "r.(?)" "p.(Ala176=)" "" "" "0000867910" "00004875" "70" "403" "0" "403" "0" "c.403C>T" "r.(?)" "p.(Gln135Ter)" "" "" "0000889795" "00004875" "30" "528" "0" "528" "0" "c.528G>C" "r.(?)" "p.(Ala176=)" "" "" "0000905142" "00004875" "50" "-173" "0" "-173" "0" "c.-173C>T" "r.(?)" "p.(?)" "" "" "0000905143" "00004875" "90" "676" "0" "676" "0" "c.676C>T" "r.(?)" "p.(Gln226Ter)" "" "" "0000905145" "00004875" "90" "676" "0" "676" "0" "c.676C>T" "r.(?)" "p.(Gln226Ter)" "" "" "0000905225" "00004875" "70" "207" "0" "208" "0" "c.207_208delinsAA" "r.(?)" "p.(Met69_Pro70delinsIleThr)" "" "" "0000906237" "00004875" "50" "-173" "0" "-173" "0" "c.-173C>T" "r.(?)" "p.(?)" "" "" "0000913566" "00004875" "50" "752" "0" "752" "0" "c.752C>T" "r.(?)" "p.(Ala251Val)" "" "" "0000913567" "00004875" "30" "618" "0" "629" "0" "c.618_629del" "r.(?)" "p.(Ala213_Pro216del)" "" "" "0000913568" "00004875" "10" "555" "0" "555" "0" "c.555T>C" "r.(?)" "p.(Ala185=)" "" "" "0000913569" "00004875" "50" "549" "0" "554" "0" "c.549_554del" "r.(?)" "p.(Ala193_Pro194del)" "" "" "0000913570" "00004875" "30" "528" "0" "528" "0" "c.528G>C" "r.(?)" "p.(Ala176=)" "" "" "0000913571" "00004875" "50" "415" "0" "415" "0" "c.415G>A" "r.(?)" "p.(Val139Ile)" "" "" "0000925372" "00004875" "30" "72" "0" "72" "0" "c.72A>G" "r.(?)" "p.(Leu24=)" "" "" "0000929848" "00004875" "30" "512" "0" "523" "0" "c.512_523del" "r.(?)" "p.(Ala171_Ala174del)" "" "" "0000929849" "00004875" "30" "444" "0" "444" "0" "c.444G>A" "r.(?)" "p.(Pro148=)" "" "" "0000949648" "00004875" "30" "944" "0" "944" "0" "c.944T>C" "r.(?)" "p.(Leu315Pro)" "" "" "0000952230" "00004875" "90" "726" "0" "726" "0" "c.726dupG" "r.(?)" "p.(His243AlafsTer43)" "" "" "0000966322" "00004875" "10" "555" "0" "555" "0" "c.555T>C" "r.(?)" "p.(Ala185=)" "" "" "0000966323" "00004875" "30" "543" "0" "554" "0" "c.543_554del" "r.(?)" "p.(Ala191_Pro194del)" "" "" "0000966324" "00004875" "30" "512" "0" "523" "0" "c.512_523del" "r.(?)" "p.(Ala171_Ala174del)" "" "" "0000966325" "00004875" "50" "374" "0" "374" "0" "c.374C>A" "r.(?)" "p.(Ser125Tyr)" "" "" "0000979541" "00004875" "30" "886" "0" "886" "0" "c.886C>T" "r.(?)" "p.(Pro296Ser)" "" "" "0000998977" "00004875" "50" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Pro270Ser)" "" "" "0000998978" "00004875" "30" "674" "0" "674" "0" "c.674A>T" "r.(?)" "p.(Glu225Val)" "" "" "0000998979" "00004875" "30" "673" "0" "673" "0" "c.673G>C" "r.(?)" "p.(Glu225Gln)" "" "" "0000998980" "00004875" "30" "604" "0" "604" "0" "c.604C>G" "r.(?)" "p.(Pro202Ala)" "" "" "0000998981" "00004875" "50" "472" "0" "472" "0" "c.472C>G" "r.(?)" "p.(Pro158Ala)" "" "" "0000998982" "00004875" "50" "328" "0" "328" "0" "c.328G>T" "r.(?)" "p.(Ala110Ser)" "" "" "0000998983" "00004875" "50" "263" "0" "263" "0" "c.263C>T" "r.(?)" "p.(Pro88Leu)" "" "" "0001014788" "00004875" "50" "17" "0" "17" "0" "c.17T>C" "r.(?)" "p.(Leu6Pro)" "" "" "0001025967" "00004875" "30" "339" "0" "339" "0" "c.339G>A" "r.(?)" "p.(Val113=)" "" "" "0001038419" "00004875" "30" "957" "-4" "957" "-4" "c.*6-4G>A" "r.spl?" "p.?" "" "" "0001038420" "00004875" "50" "821" "-12" "821" "-12" "c.821-12T>A" "r.(=)" "p.(=)" "" "" "0001053771" "00004875" "50" "965" "0" "965" "0" "c.*14C>T" "r.(=)" "p.(=)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 75 "{{screeningid}}" "{{variantid}}" "0000016372" "0000036185" "0000016375" "0000036189" "0000016376" "0000036190" "0000016377" "0000036191" "0000016378" "0000036192" "0000016379" "0000036193" "0000016380" "0000036194" "0000016381" "0000036195" "0000016382" "0000036196" "0000016383" "0000036197" "0000016384" "0000036198" "0000016385" "0000036199" "0000016386" "0000036200" "0000016387" "0000036201" "0000016388" "0000036202" "0000016389" "0000036203" "0000016390" "0000036204" "0000016391" "0000036205" "0000016392" "0000036206" "0000016393" "0000036207" "0000016394" "0000036208" "0000016395" "0000036209" "0000016396" "0000036210" "0000016397" "0000036211" "0000016398" "0000036212" "0000016399" "0000036213" "0000016400" "0000036214" "0000016401" "0000036215" "0000016402" "0000036216" "0000016403" "0000036217" "0000016404" "0000036218" "0000016405" "0000036219" "0000016406" "0000036220" "0000016407" "0000036221" "0000016408" "0000036222" "0000016409" "0000036223" "0000016410" "0000036224" "0000016411" "0000036225" "0000016412" "0000036226" "0000016413" "0000036227" "0000016414" "0000036228" "0000016415" "0000036229" "0000016416" "0000036230" "0000016416" "0000036231" "0000016416" "0000036232" "0000016417" "0000036234" "0000016418" "0000036235" "0000016419" "0000036236" "0000016420" "0000036237" "0000017581" "0000037556" "0000029813" "0000055899" "0000029890" "0000055971" "0000029892" "0000055977" "0000029894" "0000055979" "0000032451" "0000058601" "0000032452" "0000058602" "0000032453" "0000058603" "0000032454" "0000058604" "0000032455" "0000058605" "0000032463" "0000058622" "0000032464" "0000058623" "0000035233" "0000062352" "0000035234" "0000062353" "0000080162" "0000129090" "0000080163" "0000129092" "0000080164" "0000129094" "0000117664" "0000188631" "0000117665" "0000188632" "0000117666" "0000188633" "0000267605" "0000599051" "0000277180" "0000631924" "0000291544" "0000648233" "0000317322" "0000699846" "0000400970" "0000833995" "0000445316" "0000952230"