### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CYFIP2) # 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}}" "CYFIP2" "cytoplasmic FMR1 interacting protein 2" "5" "q34" "unknown" "NC_000005.9" "UD_136022127228" "" "https://www.LOVD.nl/CYFIP2" "" "1" "13760" "26999" "606323" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/CYFIP2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-09-10 12:31:57" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00005982" "CYFIP2" "transcript variant 2" "002" "NM_001037332.2" "" "NP_001032409.2" "" "" "" "-431" "6360" "3762" "156693187" "156822606" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "00574" "del 2q37;BDMR" "chromosome deletion syndrome 2q37 (brachydactyly mental retardation syndrome (BDMR))" "AD" "600430" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2022-02-24 17:04:38" "00841" "EIEE" "encephalopathy, epileptic, early infantile (EIEE)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-02-20 16:58:56" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05750" "EIEE65" "encephalopathy, epileptic, early infantile, type 65 (EIEE65)" "AD" "618008" "" "" "" "00006" "2020-05-18 12:42:15" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CYFIP2" "05750" ## Individuals ## Do not remove or alter this header ## ## Count = 37 "{{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}}" "00180890" "" "" "" "1" "" "02552" "{PMID:Zweier 2019:30664714}, {DOI:Zweier 2019:10.1038/s41431-018-0331-z}" "" "F" "no" "Switzerland" "" "0" "" "" "" "" "00180891" "" "" "" "1" "" "02552" "{PMID:Zweier 2019:30664714}, {DOI:Zweier 2019:10.1038/s41431-018-0331-z}" "" "F" "no" "United States" "" "0" "" "" "" "" "00180892" "" "" "" "1" "" "02552" "{PMID:Zweier 2019:30664714}, {DOI:Zweier 2019:10.1038/s41431-018-0331-z}" "" "M" "no" "United States" "" "0" "" "" "" "" "00180893" "" "" "" "1" "" "02552" "{PMID:Zweier 2019:30664714}, {DOI:Zweier 2019:10.1038/s41431-018-0331-z}" "" "F" "no" "United States" "" "0" "" "" "Nigerian" "" "00180894" "" "" "" "1" "" "02552" "{PMID:Zweier 2019:30664714}, {DOI:Zweier 2019:10.1038/s41431-018-0331-z}" "" "F" "no" "United States" "" "0" "" "" "" "" "00180895" "" "" "" "1" "" "02552" "{PMID:Zweier 2019:30664714}, {DOI:Zweier 2019:10.1038/s41431-018-0331-z}" "" "F" "no" "Estonia" "" "0" "" "" "" "" "00180896" "" "" "" "1" "" "02552" "{PMID:Zweier 2019:30664714}, {DOI:Zweier 2019:10.1038/s41431-018-0331-z}" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00180897" "" "" "" "1" "" "02552" "{PMID:Zweier 2019:30664714}, {DOI:Zweier 2019:10.1038/s41431-018-0331-z}" "" "F" "no" "United States" "" "0" "" "" "Mexican" "" "00180898" "" "" "" "1" "" "02552" "{PMID:Zweier 2019:30664714}, {DOI:Zweier 2019:10.1038/s41431-018-0331-z}" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00180899" "" "" "" "1" "" "02552" "{PMID:Zweier 2019:30664714}, {DOI:Zweier 2019:10.1038/s41431-018-0331-z}" "" "M" "no" "Germany" "" "0" "" "" "" "" "00180900" "" "" "" "1" "" "02552" "{PMID:Zweier 2019:30664714}, {DOI:Zweier 2019:10.1038/s41431-018-0331-z}" "" "M" "" "Germany" "" "0" "" "" "" "" "00180901" "" "" "" "1" "" "02552" "{PMID:Zweier 2019:30664714}, {DOI:Zweier 2019:10.1038/s41431-018-0331-z}" "" "F" "no" "France" "" "0" "" "" "" "" "00301307" "" "" "" "1" "" "03675" "Begemann et al., submitted" "" "F" "no" "" "" "0" "" "" "" "Individual 1" "00301308" "" "" "" "1" "" "03675" "Begemann et al., submitted" "" "M" "no" "" "" "0" "" "" "" "Individual 2" "00301309" "" "" "" "1" "" "03675" "Begemann et al., submitted" "" "M" "no" "" "" "0" "" "" "" "Individual 3" "00301310" "" "" "" "1" "" "03675" "Begemann et al., submitted" "" "M" "no" "" "" "0" "" "" "" "Individual 4" "00301311" "" "" "" "1" "" "03675" "Begemann et al., submitted" "" "M" "no" "" "" "0" "" "" "" "Individual 5" "00301312" "" "" "" "1" "" "03675" "Begemann et al., submitted" "" "M" "no" "" "" "0" "" "" "" "Individual 6" "00301313" "" "" "" "1" "" "03675" "Begemann et al., submitted" "" "M" "no" "" "" "0" "" "" "" "Individual 7" "00301314" "" "" "" "1" "" "03675" "Begemann et al., submitted" "" "" "no" "" "" "0" "" "" "" "Individual 8" "00301315" "" "" "" "1" "" "03675" "Begemann et al., submitted" "" "" "no" "" "" "0" "" "" "" "Individual 9" "00301316" "" "" "" "1" "" "03675" "Begemann et al., submitted" "" "F" "" "" "" "0" "" "" "" "Individual 10" "00301317" "" "" "" "1" "" "03675" "Begemann et al., submitted" "" "" "no" "" "" "0" "" "" "" "Individual 11" "00301318" "" "" "" "1" "" "03675" "Begemann et al., submitted" "" "M" "no" "" "" "0" "" "" "" "Individual 12" "00301319" "" "" "" "1" "" "03675" "Begemann et al., submitted" "" "F" "" "" "" "0" "" "" "" "Individual 13" "00301320" "" "" "" "1" "" "03675" "Begemann et al., submitted" "" "M" "no" "" "" "0" "" "" "" "Individual 14" "00301321" "" "" "" "1" "" "03675" "Begemann et al., submitted" "" "" "no" "" "" "0" "" "" "" "Individual 15" "00301322" "" "" "" "1" "" "03675" "Begemann et al., submitted" "" "" "no" "" "" "0" "" "" "" "Individual 16" "00301323" "" "" "" "1" "" "03675" "Begemann et al., submitted" "" "F" "no" "" "" "0" "" "" "" "Individual 17" "00301324" "" "" "" "1" "" "03675" "Begemann et al., submitted" "" "" "no" "" "" "0" "" "" "" "Individual 18" "00301325" "" "" "" "1" "" "03675" "Begemann et al., submitted" "" "" "yes" "" "" "0" "" "" "" "Individual 19" "00301515" "" "" "" "1" "" "00006" "{PMID:Nakashima 2018:29534297}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Japan" "" "0" "" "" "" "Pat1" "00301516" "" "" "" "1" "" "00006" "{PMID:Nakashima 2018:29534297}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Japan" "" "0" "" "" "" "Pat2" "00301517" "" "" "" "1" "" "00006" "{PMID:Nakashima 2018:29534297}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Japan" "" "0" "" "" "" "Pat3" "00301518" "" "" "" "1" "" "00006" "{PMID:Nakashima 2018:29534297}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Japan" "" "0" "" "" "" "Pat4" "00402892" "" "" "" "1" "" "02404" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "4-generation family, 1 affected, unaffected parents" "M" "yes" "United States" "" "0" "" "" "African-American" "Fam5PatIV1" "00453467" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "72432" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 37 "{{individualid}}" "{{diseaseid}}" "00180890" "00344" "00180891" "00841" "00180892" "00841" "00180893" "00344" "00180894" "00344" "00180895" "00344" "00180896" "04270" "00180897" "00344" "00180898" "05162" "00180899" "00344" "00180900" "05162" "00180901" "00344" "00301307" "05611" "00301308" "05611" "00301309" "05611" "00301310" "05611" "00301311" "05611" "00301312" "05611" "00301313" "05611" "00301314" "05611" "00301315" "05611" "00301316" "05611" "00301317" "05611" "00301318" "05611" "00301319" "05611" "00301320" "05611" "00301321" "05611" "00301322" "05611" "00301323" "00574" "00301324" "00574" "00301325" "05611" "00301515" "00344" "00301516" "00344" "00301517" "00344" "00301518" "00344" "00402892" "05611" "00453467" "05750" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00344, 00574, 00841, 04270, 05162, 05611, 05750 ## Count = 16 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000143153" "00344" "00180890" "02552" "Familial, autosomal dominant" "" "HP:0000252" "" "" "" "" "" "" "" "" "" "" "0000143154" "00344" "00180893" "02552" "Familial, autosomal dominant" "" "HP:0000252" "00y02m" "" "" "" "" "" "" "" "" "" "0000143155" "00841" "00180892" "02552" "Familial, autosomal dominant" "" "" "00y01m" "" "" "" "profound" "" "" "" "" "" "0000143156" "00841" "00180891" "02552" "Familial, autosomal dominant" "" "" "" "" "" "" "profound" "" "" "" "" "" "0000143157" "00344" "00180894" "02552" "Familial, autosomal dominant" "" "" "00y07m" "" "" "" "" "" "" "" "" "" "0000143158" "00344" "00180895" "02552" "Familial, autosomal dominant" "" "" "01y02m" "" "" "" "" "" "" "" "" "" "0000143159" "04270" "00180896" "02552" "Familial, autosomal dominant" "" "HP:0001249" "03y" "" "" "" "" "" "" "" "" "" "0000143160" "00344" "00180897" "02552" "Familial, autosomal dominant" "" "HP:0000252" "00y09m" "" "" "" "" "" "" "" "" "" "0000143161" "05162" "00180898" "02552" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "0000143162" "00344" "00180899" "02552" "Familial, autosomal dominant" "" "" "00y06m" "" "" "" "" "" "" "" "" "" "0000143163" "05162" "00180900" "02552" "Familial, autosomal dominant" "" "HP:0001250" "00y04m" "" "" "" "" "" "" "" "" "" "0000143164" "00344" "00180901" "02552" "Familial, autosomal dominant" "" "" "00y08m" "" "" "" "" "" "" "" "" "" "0000228644" "00344" "00301515" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "EIEE65" "early-onset epileptic encephalopathy" "0000228645" "00344" "00301516" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "EIEE65" "early-onset epileptic encephalopathy" "0000228646" "00344" "00301517" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "EIEE65" "early-onset epileptic encephalopathy" "0000228647" "00344" "00301518" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "EIEE65" "early-onset epileptic encephalopathy" ## Screenings ## Do not remove or alter this header ## ## Count = 37 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000181826" "00180890" "1" "02552" "02552" "2018-09-10 10:57:16" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000181827" "00180891" "1" "02552" "02552" "2018-09-10 11:02:02" "00006" "2018-09-14 12:51:50" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000181828" "00180892" "1" "02552" "02552" "2018-09-10 11:20:37" "02552" "2018-09-10 11:34:11" "SEQ-NG" "DNA" "" "WGS" "0000181829" "00180893" "1" "02552" "02552" "2018-09-10 11:22:59" "" "" "SEQ-NG" "DNA" "" "WES" "0000181830" "00180894" "1" "02552" "02552" "2018-09-10 11:36:39" "" "" "SEQ-NG" "DNA" "" "WES" "0000181831" "00180895" "1" "02552" "02552" "2018-09-10 11:38:32" "" "" "SEQ-NG" "DNA" "" "WES" "0000181832" "00180896" "1" "02552" "02552" "2018-09-10 11:42:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000181833" "00180897" "1" "02552" "02552" "2018-09-10 11:50:46" "" "" "SEQ-NG" "DNA" "" "WES" "0000181834" "00180898" "1" "02552" "02552" "2018-09-10 11:55:48" "" "" "SEQ-NG" "DNA" "" "WES" "0000181835" "00180899" "1" "02552" "02552" "2018-09-10 11:58:46" "" "" "SEQ-NG" "DNA" "" "WES" "0000181836" "00180900" "1" "02552" "02552" "2018-09-10 12:01:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000181837" "00180901" "1" "02552" "02552" "2018-09-10 12:03:41" "" "" "SEQ-NG" "DNA" "" "WES" "0000302431" "00301307" "1" "03675" "03675" "2020-05-14 15:54:43" "" "" "?" "DNA" "" "" "0000302432" "00301308" "1" "03675" "03675" "2020-05-14 16:02:04" "" "" "?" "DNA" "" "" "0000302433" "00301309" "1" "03675" "03675" "2020-05-14 16:06:42" "" "" "?" "DNA" "" "" "0000302434" "00301310" "1" "03675" "03675" "2020-05-14 16:09:37" "" "" "?" "DNA" "" "" "0000302435" "00301311" "1" "03675" "03675" "2020-05-14 16:12:59" "" "" "?" "DNA" "" "" "0000302436" "00301312" "1" "03675" "03675" "2020-05-14 16:19:37" "" "" "?" "DNA" "" "" "0000302437" "00301313" "1" "03675" "03675" "2020-05-14 16:25:27" "" "" "?" "DNA" "" "" "0000302438" "00301314" "1" "03675" "03675" "2020-05-14 16:31:39" "" "" "?" "DNA" "" "" "0000302439" "00301315" "1" "03675" "03675" "2020-05-14 16:35:40" "" "" "?" "DNA" "" "" "0000302440" "00301316" "1" "03675" "03675" "2020-05-14 16:41:22" "" "" "?" "DNA" "" "" "0000302441" "00301317" "1" "03675" "03675" "2020-05-14 16:44:07" "" "" "?" "DNA" "" "" "0000302442" "00301318" "1" "03675" "03675" "2020-05-14 16:46:41" "" "" "?" "DNA" "" "" "0000302443" "00301319" "1" "03675" "03675" "2020-05-14 16:59:31" "" "" "?" "DNA" "" "" "0000302444" "00301320" "1" "03675" "03675" "2020-05-14 17:03:29" "" "" "?" "DNA" "" "" "0000302445" "00301321" "1" "03675" "03675" "2020-05-14 17:06:19" "" "" "?" "DNA" "" "" "0000302446" "00301322" "1" "03675" "03675" "2020-05-14 17:09:35" "" "" "?" "DNA" "" "" "0000302447" "00301323" "1" "03675" "03675" "2020-05-14 17:14:29" "" "" "?" "DNA" "" "" "0000302448" "00301324" "1" "03675" "03675" "2020-05-14 17:18:38" "" "" "?" "DNA" "" "" "0000302449" "00301325" "1" "03675" "03675" "2020-05-14 17:22:21" "" "" "?" "DNA" "" "" "0000302637" "00301515" "1" "00006" "00006" "2020-05-18 13:40:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000302638" "00301516" "1" "00006" "00006" "2020-05-18 13:40:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000302639" "00301517" "1" "00006" "00006" "2020-05-18 13:40:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000302640" "00301518" "1" "00006" "00006" "2020-05-18 13:40:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000404133" "00402892" "1" "02404" "02404" "2022-02-13 17:33:16" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000455081" "00453467" "1" "01164" "01164" "2024-09-04 10:53:00" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{geneid}}" "0000302431" "CYFIP2" "0000302432" "CYFIP2" "0000302433" "CYFIP2" "0000302434" "CYFIP2" "0000302435" "CYFIP2" "0000302436" "CYFIP2" "0000302437" "CYFIP2" "0000302438" "CYFIP2" "0000302439" "CYFIP2" "0000302440" "CYFIP2" "0000302441" "CYFIP2" "0000302442" "CYFIP2" "0000302443" "CYFIP2" "0000302444" "CYFIP2" "0000302445" "CYFIP2" "0000302446" "CYFIP2" "0000302447" "CYFIP2" "0000302448" "CYFIP2" "0000302449" "CYFIP2" "0000302637" "CYFIP2" "0000302638" "CYFIP2" "0000302639" "CYFIP2" "0000302640" "CYFIP2" "0000455081" "CYFIP2" "0000455081" "UBA2" ## 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 = 83 "{{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}}" "0000248888" "0" "10" "5" "156898690" "156898690" "subst" "0.495099" "02325" "NIPAL4_000003" "g.156898690A>G" "" "" "" "NIPAL4(NM_001099287.2):c.451A>G (p.R151G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157471682A>G" "" "benign" "" "0000249065" "0" "10" "5" "156887133" "156887133" "subst" "0.36689" "02325" "NIPAL4_000001" "g.156887133A>G" "" "" "" "NIPAL4(NM_001099287.2):c.-196A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157460125A>G" "" "benign" "" "0000296486" "0" "10" "5" "156899869" "156899869" "subst" "0.97827" "02325" "ADAM19_000001" "g.156899869T>C" "" "" "" "NIPAL4(NM_001099287.2):c.1116T>C (p.V372=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157472861T>C" "" "benign" "" "0000304171" "0" "90" "5" "156895764" "156895764" "subst" "0" "01943" "NIPAL4_000002" "g.156895764C>A" "" "" "" "NIPAL4(NM_001099287.1):c.555C>A (p.Y185*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157468756C>A" "" "pathogenic" "" "0000337294" "0" "10" "5" "156887133" "156887133" "subst" "0.36689" "02327" "NIPAL4_000001" "g.156887133A>G" "" "" "" "NIPAL4(NM_001099287.2):c.-196A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157460125A>G" "" "benign" "" "0000339493" "0" "10" "5" "156899869" "156899869" "subst" "0.97827" "02327" "ADAM19_000001" "g.156899869T>C" "" "" "" "NIPAL4(NM_001099287.2):c.1116T>C (p.V372=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157472861T>C" "" "benign" "" "0000341220" "0" "90" "5" "156895736" "156895736" "subst" "0.000658553" "02327" "NIPAL4_000004" "g.156895736C>A" "" "" "" "NIPAL4(NM_001099287.1):c.527C>A (p.A176D), NIPAL4(NM_001099287.2):c.341C>A (p.A114D), NIPAL4(NM_001172292.1):c.470C>A (p.A157D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157468728C>A" "" "pathogenic" "" "0000342248" "0" "10" "5" "156898690" "156898690" "subst" "0.495099" "02327" "NIPAL4_000003" "g.156898690A>G" "" "" "" "NIPAL4(NM_001099287.2):c.451A>G (p.R151G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157471682A>G" "" "benign" "" "0000347669" "0" "70" "5" "156768124" "156768124" "subst" "0" "02327" "CYFIP2_000001" "g.156768124A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157341116A>G" "" "likely pathogenic" "" "0000349023" "0" "10" "5" "156899925" "156899925" "subst" "0.0629351" "02327" "ADAM19_000002" "g.156899925C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157472917C>T" "" "benign" "" "0000405522" "0" "70" "5" "156721843" "156721843" "subst" "0" "02552" "CYFIP2_000002" "g.156721843C>T" "" "{PMID:Zweier 2019:30664714}, {DOI:Zweier 2019:10.1038/s41431-018-0331-z}" "" "" "" "De novo" "" "" "0" "" "" "g.157294834C>T" "" "likely pathogenic" "" "0000405523" "0" "70" "5" "156817677" "156817677" "subst" "0" "02552" "CYFIP2_000003" "g.156817677G>T" "" "{PMID:Zweier 2019:30664714}, {DOI:Zweier 2019:10.1038/s41431-018-0331-z}" "" "" "effect on RNA tested with RT-PCR of RNA from peripheral blood" "De novo" "" "" "0" "" "" "g.157390669G>T" "" "likely pathogenic" "" "0000405524" "0" "70" "5" "156721843" "156721843" "subst" "0" "02552" "CYFIP2_000002" "g.156721843C>T" "" "{PMID:Zweier 2019:30664714}, {DOI:Zweier 2019:10.1038/s41431-018-0331-z}" "" "" "" "De novo" "" "" "0" "" "" "g.157294834C>T" "" "likely pathogenic" "" "0000405525" "0" "70" "5" "156721843" "156721843" "subst" "0" "02552" "CYFIP2_000002" "g.156721843C>T" "" "{PMID:Zweier 2019:30664714}, {DOI:Zweier 2019:10.1038/s41431-018-0331-z}" "" "" "" "De novo" "" "" "0" "" "" "g.157294834C>T" "" "likely pathogenic" "" "0000405526" "0" "70" "5" "156755000" "156755000" "subst" "0" "02552" "CYFIP2_000004" "g.156755000A>G" "" "{PMID:Zweier 2019:30664714}, {DOI:Zweier 2019:10.1038/s41431-018-0331-z}" "" "" "" "De novo" "" "" "0" "" "" "g.157327992A>G" "" "likely pathogenic" "" "0000405527" "0" "70" "5" "156752581" "156752581" "subst" "0" "02552" "CYFIP2_000005" "g.156752581C>G" "" "{PMID:Zweier 2019:30664714}, {DOI:Zweier 2019:10.1038/s41431-018-0331-z}" "" "" "" "De novo" "" "" "0" "" "" "g.157325573C>G" "" "likely pathogenic" "" "0000405528" "0" "70" "5" "156752582" "156752582" "subst" "0" "02552" "CYFIP2_000006" "g.156752582G>A" "" "{PMID:Zweier 2019:30664714}, {DOI:Zweier 2019:10.1038/s41431-018-0331-z}" "" "" "" "De novo" "" "" "0" "" "" "g.157325574G>A" "" "likely pathogenic" "" "0000405529" "0" "70" "5" "156721843" "156721843" "subst" "0" "02552" "CYFIP2_000002" "g.156721843C>T" "" "{PMID:Zweier 2019:30664714}, {DOI:Zweier 2019:10.1038/s41431-018-0331-z}" "" "" "" "De novo" "" "" "0" "" "" "g.157294834C>T" "" "likely pathogenic" "" "0000405530" "0" "70" "5" "156752581" "156752581" "subst" "0" "02552" "CYFIP2_000005" "g.156752581C>G" "" "{PMID:Zweier 2019:30664714}, {DOI:Zweier 2019:10.1038/s41431-018-0331-z}" "" "" "" "De novo" "" "" "0" "" "" "g.157325573C>G" "" "likely pathogenic" "" "0000405531" "0" "70" "5" "156746776" "156746776" "subst" "0" "02552" "CYFIP2_000007" "g.156746776G>C" "" "{PMID:Zweier 2019:30664714}, {DOI:Zweier 2019:10.1038/s41431-018-0331-z}" "" "" "" "De novo" "" "" "0" "" "" "g.157319768G>C" "" "likely pathogenic" "" "0000405532" "0" "70" "5" "156754996" "156754996" "subst" "0" "02552" "CYFIP2_000008" "g.156754996G>C" "" "{PMID:Zweier 2019:30664714}, {DOI:Zweier 2019:10.1038/s41431-018-0331-z}" "" "" "" "De novo" "" "" "0" "" "" "g.157327988G>C" "" "likely pathogenic" "" "0000405533" "0" "70" "5" "156723717" "156723717" "subst" "0" "02552" "CYFIP2_000009" "g.156723717T>C" "" "{PMID:Zweier 2019:30664714}, {DOI:Zweier 2019:10.1038/s41431-018-0331-z}" "" "" "" "De novo" "" "" "0" "" "" "g.157296709T>C" "" "likely pathogenic" "" "0000525068" "0" "50" "5" "156890276" "156890276" "subst" "1.21876E-5" "02327" "CYFIP2_000010" "g.156890276G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157463268G>T" "" "VUS" "" "0000525069" "0" "90" "5" "156899456" "156899456" "subst" "2.0307E-5" "02327" "CYFIP2_000011" "g.156899456G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157472448G>A" "" "pathogenic" "" "0000665720" "0" "50" "5" "156721843" "156721843" "subst" "0" "03675" "CYFIP2_000002" "g.156721843C>T" "" "Zweier et al., submitted" "" "" "" "De novo" "" "" "0" "" "" "g.157294834C>T" "" "likely pathogenic (dominant)" "" "0000665721" "0" "50" "5" "156721843" "156721843" "subst" "0" "03675" "CYFIP2_000002" "g.156721843C>T" "" "Zweier et al., submitted" "" "" "" "De novo" "" "" "0" "" "" "g.157294834C>T" "" "likely pathogenic (dominant)" "" "0000665722" "0" "50" "5" "156721843" "156721843" "subst" "0" "03675" "CYFIP2_000002" "g.156721843C>T" "" "Zweier et al., submitted" "" "" "" "De novo" "" "" "0" "" "" "g.157294834C>T" "" "likely pathogenic (dominant)" "" "0000665723" "0" "50" "5" "156721843" "156721843" "subst" "0" "03675" "CYFIP2_000012" "g.156721843C>A" "" "Zweier et al., submitted" "" "" "" "De novo" "" "" "0" "" "" "g.157294834C>A" "" "likely pathogenic (dominant)" "" "0000665724" "0" "50" "5" "156721844" "156721844" "subst" "0" "03675" "CYFIP2_000013" "g.156721844G>A" "" "Zweier et al., submitted" "" "" "" "Unknown" "" "" "0" "" "" "g.157294835G>A" "" "likely pathogenic (dominant)" "" "0000665725" "0" "50" "5" "156754996" "156754996" "subst" "0" "03675" "CYFIP2_000008" "g.156754996G>C" "" "Zweier et al., submitted" "" "" "" "De novo" "" "" "0" "" "" "g.157327988G>C" "" "likely pathogenic (dominant)" "" "0000665726" "0" "50" "5" "156754996" "156754996" "subst" "0" "03675" "CYFIP2_000008" "g.156754996G>C" "" "Zweier et al., submitted" "" "" "" "De novo" "" "" "0" "" "" "g.157327988G>C" "" "likely pathogenic (dominant)" "" "0000665727" "0" "50" "5" "156754996" "156754996" "subst" "0" "03675" "CYFIP2_000025" "g.156754996G>T" "" "Zweier et al., submitted" "" "" "" "De novo" "" "" "0" "" "" "g.157327988G>T" "" "likely pathogenic (dominant)" "" "0000665728" "0" "50" "5" "156754997" "156754997" "subst" "0" "03675" "CYFIP2_000022" "g.156754997A>G" "" "Zweier et al., submitted" "" "" "" "De novo" "" "" "0" "" "" "g.157327989A>G" "" "likely pathogenic (dominant)" "" "0000665729" "0" "50" "5" "156736782" "156736782" "subst" "0" "03675" "CYFIP2_000015" "g.156736782T>C" "" "Zweier et al., submitted" "" "" "" "De novo" "" "" "0" "" "" "g.157309774T>C" "" "likely pathogenic (dominant)" "" "0000665730" "0" "50" "5" "156746817" "156746817" "subst" "0" "03675" "CYFIP2_000017" "g.156746817G>C" "" "Zweier et al., submitted" "" "" "" "De novo" "" "" "0" "" "" "g.157319809G>C" "" "likely pathogenic (dominant)" "" "0000665731" "0" "50" "5" "156746882" "156746882" "subst" "0" "03675" "CYFIP2_000018" "g.156746882C>T" "" "Zweier et al., submitted" "" "" "" "De novo" "" "" "0" "" "" "g.157319874C>T" "" "likely pathogenic (dominant)" "" "0000665732" "0" "50" "5" "156753190" "156753190" "subst" "0" "03675" "CYFIP2_000023" "g.156753190A>G" "" "Zweier et al., submitted" "" "" "" "De novo" "" "" "0" "" "" "g.157326182A>G" "" "likely pathogenic (dominant)" "" "0000665733" "0" "50" "5" "156746779" "156746779" "subst" "0" "03675" "CYFIP2_000016" "g.156746779A>G" "" "Zweier et al., submitted" "" "" "" "Unknown" "" "" "0" "" "" "g.157319771A>G" "" "VUS" "" "0000665734" "0" "50" "5" "156768080" "156768080" "subst" "0" "03675" "CYFIP2_000021" "g.156768080T>C" "" "Zweier et al., submitted" "" "" "" "Unknown" "" "" "0" "" "" "g.157341072T>C" "" "likely pathogenic (dominant)" "" "0000665735" "0" "50" "5" "156817623" "156817623" "subst" "0" "03675" "CYFIP2_000020" "g.156817623C>T" "" "Zweier et al., submitted" "" "" "" "Unknown" "" "" "0" "" "" "g.157390615C>T" "" "likely pathogenic (dominant)" "" "0000665736" "0" "50" "5" "156753178" "156753178" "subst" "0" "03675" "CYFIP2_000024" "g.156753178G>C" "" "Zweier et al., submitted" "" "" "" "Unknown" "" "" "0" "" "" "g.157326170G>C" "" "likely pathogenic (dominant)" "" "0000665737" "0" "50" "5" "156746914" "156746914" "subst" "0" "03675" "CYFIP2_000019" "g.156746914A>T" "" "Zweier et al., submitted" "" "" "" "De novo" "" "" "0" "" "" "g.157319906A>T" "" "VUS" "" "0000665738" "0" "50" "5" "156731350" "156731350" "dup" "0" "03675" "CYFIP2_000014" "g.156731350dup" "" "Zweier et al., submitted" "" "" "" "Unknown" "" "" "0" "" "" "g.157304342dup" "" "VUS" "" "0000665979" "0" "90" "5" "156721844" "156721844" "subst" "0" "00006" "CYFIP2_000026" "g.156721844G>T" "1/210 EE families" "{PMID:Nakashima 2018:29534297}" "" "" "" "De novo" "" "" "0" "" "" "g.157294835G>T" "" "pathogenic (dominant)" "" "0000665980" "0" "90" "5" "156721843" "156721843" "subst" "0" "00006" "CYFIP2_000002" "g.156721843C>T" "1/210 EE families" "{PMID:Nakashima 2018:29534297}" "" "" "" "De novo" "" "" "0" "" "" "g.157294834C>T" "" "pathogenic (dominant)" "" "0000665981" "0" "90" "5" "156721843" "156721843" "subst" "0" "00006" "CYFIP2_000002" "g.156721843C>T" "1/210 EE families" "{PMID:Nakashima 2018:29534297}" "" "" "" "De novo" "" "" "0" "" "" "g.157294834C>T" "" "pathogenic (dominant)" "" "0000665982" "0" "90" "5" "156721844" "156721844" "subst" "0" "00006" "CYFIP2_000027" "g.156721844G>C" "1/210 EE families" "{PMID:Nakashima 2018:29534297}" "" "" "" "De novo" "" "" "0" "" "" "g.157294835G>C" "" "pathogenic (dominant)" "" "0000689476" "0" "30" "5" "156766093" "156766093" "subst" "2.48332E-5" "02325" "CYFIP2_000028" "g.156766093G>A" "" "" "" "CYFIP2(NM_001037333.3):c.2414G>A (p.R805Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720321" "0" "50" "5" "156742074" "156742074" "subst" "0" "02325" "CYFIP2_000029" "g.156742074C>T" "" "" "" "CYFIP2(NM_001037333.3):c.1328C>T (p.T443I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720322" "0" "30" "5" "156890161" "156890161" "subst" "2.84289E-5" "01943" "CYFIP2_000030" "g.156890161C>T" "" "" "" "NIPAL4(NM_001099287.1):c.283C>T (p.L95F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720323" "0" "70" "5" "156895736" "156895736" "subst" "0.000658553" "01943" "NIPAL4_000004" "g.156895736C>A" "" "" "" "NIPAL4(NM_001099287.1):c.527C>A (p.A176D), NIPAL4(NM_001099287.2):c.341C>A (p.A114D), NIPAL4(NM_001172292.1):c.470C>A (p.A157D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000720324" "0" "50" "5" "156899405" "156899405" "subst" "4.47122E-5" "01943" "CYFIP2_000031" "g.156899405C>T" "" "" "" "NIPAL4(NM_001099287.1):c.838C>T (p.R280C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801997" "0" "30" "5" "156741335" "156741335" "subst" "0.00275866" "02326" "CYFIP2_000032" "g.156741335C>G" "" "" "" "CYFIP2(NM_001037333.3):c.1111-17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801998" "0" "30" "5" "156926617" "156926617" "subst" "2.4514E-5" "01943" "ADAM19_000003" "g.156926617C>T" "" "" "" "ADAM19(NM_033274.4):c.1362G>A (p.A454=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000839728" "0" "90" "5" "156742101" "156742101" "subst" "0" "02404" "CYFIP2_000033" "g.156742101A>T" "" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "" "" "De novo" "?" "" "0" "" "" "g.157315093A>T" "" "pathogenic" "ACMG" "0000886717" "0" "50" "5" "156738677" "156738677" "subst" "0.000124551" "02325" "CYFIP2_000034" "g.156738677C>T" "" "" "" "CYFIP2(NM_001037333.3):c.998C>T (p.T333M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886718" "0" "30" "5" "156810322" "156810322" "subst" "0.000312917" "02325" "CYFIP2_000035" "g.156810322C>T" "" "" "" "CYFIP2(NM_001037333.3):c.3162C>T (p.A1054=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886719" "0" "90" "5" "156890346" "156890346" "subst" "1.69382E-5" "02325" "CYFIP2_000036" "g.156890346G>A" "" "" "" "NIPAL4(NM_001099287.2):c.277+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000886720" "0" "90" "5" "156894097" "156894097" "subst" "0" "02325" "CYFIP2_000037" "g.156894097G>A" "" "" "" "NIPAL4(NM_001099287.2):c.318G>A (p.W106*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912275" "0" "50" "5" "156746776" "156746776" "subst" "0" "02327" "CYFIP2_000038" "g.156746776G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912276" "0" "50" "5" "156817596" "156817596" "subst" "5.9281E-6" "02325" "CYFIP2_000039" "g.156817596C>T" "" "" "" "CYFIP2(NM_001037333.3):c.3514C>T (p.R1172C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924289" "0" "70" "5" "156721844" "156721844" "subst" "0" "02325" "CYFIP2_000013" "g.156721844G>A" "" "" "" "CYFIP2(NM_001037333.3):c.260G>A (p.R87H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000924290" "0" "50" "5" "156753216" "156753216" "subst" "4.06114E-6" "02325" "CYFIP2_000040" "g.156753216G>T" "" "" "" "CYFIP2(NM_001037333.3):c.2020G>T (p.A674S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924291" "0" "70" "5" "156895736" "156895736" "subst" "0.000658553" "02325" "NIPAL4_000004" "g.156895736C>A" "" "" "" "NIPAL4(NM_001099287.1):c.527C>A (p.A176D), NIPAL4(NM_001099287.2):c.341C>A (p.A114D), NIPAL4(NM_001172292.1):c.470C>A (p.A157D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000929048" "0" "90" "5" "156895736" "156895736" "subst" "0.000658553" "02329" "NIPAL4_000004" "g.156895736C>A" "" "" "" "NIPAL4(NM_001099287.1):c.527C>A (p.A176D), NIPAL4(NM_001099287.2):c.341C>A (p.A114D), NIPAL4(NM_001172292.1):c.470C>A (p.A157D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000948516" "0" "50" "5" "156817533" "156817533" "subst" "0" "02329" "CYFIP2_000041" "g.156817533T>C" "" "" "" "CYFIP2(NM_014376.4):c.3451T>C (p.C1151R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976692" "0" "30" "5" "156726781" "156726781" "subst" "0" "01804" "CYFIP2_000042" "g.156726781A>C" "" "" "" "CYFIP2(NM_001037333.3):c.388-942A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976693" "0" "30" "5" "156746764" "156746764" "subst" "0" "01804" "CYFIP2_000043" "g.156746764G>A" "" "" "" "CYFIP2(NM_001037333.3):c.1357-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976694" "0" "30" "5" "156753209" "156753209" "subst" "0.000170568" "02325" "CYFIP2_000044" "g.156753209C>T" "" "" "" "CYFIP2(NM_001037333.3):c.2013C>T (p.N671=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976695" "0" "30" "5" "156816443" "156816443" "subst" "0" "01804" "CYFIP2_000045" "g.156816443C>T" "" "" "" "CYFIP2(NM_001037333.3):c.3446+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976696" "0" "30" "5" "156817392" "156817392" "subst" "0" "01804" "CYFIP2_000046" "g.156817392C>T" "" "" "" "CYFIP2(NM_001037333.3):c.3447-137C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976697" "0" "50" "5" "156991411" "156991411" "subst" "1.21821E-5" "01804" "CYFIP2_000047" "g.156991411C>T" "" "" "" "ADAM19(NM_033274.5):c.221G>A (p.(Arg74Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994839" "0" "50" "5" "156723747" "156723747" "subst" "0" "01804" "CYFIP2_000048" "g.156723747G>A" "" "" "" "CYFIP2(NM_001037333.1):c.352G>A (p.(Ala118Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994840" "0" "50" "5" "156770375" "156770375" "subst" "0.00101525" "01804" "CYFIP2_000049" "g.156770375G>A" "" "" "" "FNDC9(NM_001001343.3):c.170C>T (p.(Thr57Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007069" "0" "70" "5" "156731327" "156731327" "subst" "0" "01164" "CYFIP2_000050" "g.156731327G>A" "" "" "" "" "ACMG: PS2_MOD, PM2_SUP, PP2, confirmed de novo (MGZ), Invitae: detected in one individual who was tested as a newborn after he developed seizures/possible infantile spasms in the first few days of life. No further clinical information was provided and no family studies were pursued. This patient has a likely pathogenic variant in GNAO1 which may explain their phenotype; carries pathogenic variant in UBA2 (OMIM #619959; ACCES Syndrome) explaining some of the phenotypic features, but not all." "De novo" "-" "" "0" "" "" "g.157304319G>A" "VCV002767765.1" "VUS (!)" "ACMG" "0001014103" "0" "30" "5" "156770220" "156770220" "subst" "0.000389921" "02325" "CYFIP2_000051" "g.156770220G>A" "" "" "" "CYFIP2(NM_001037333.3):c.2673+2055G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025061" "0" "30" "5" "156736840" "156736840" "subst" "0" "02325" "CYFIP2_000052" "g.156736840C>T" "" "" "" "CYFIP2(NM_001037333.3):c.990C>T (p.S330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035062" "0" "30" "5" "156689812" "156689812" "subst" "0" "01804" "CYFIP2_000053" "g.156689812T>C" "" "" "" "CYFIP2(NM_001037333.3):c.-3417T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035063" "0" "30" "5" "156716025" "156716025" "subst" "0" "01804" "CYFIP2_000054" "g.156716025G>A" "" "" "" "CYFIP2(NM_001037333.3):c.207+1908G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035064" "0" "30" "5" "156731381" "156731381" "subst" "8.15807E-6" "01804" "CYFIP2_000055" "g.156731381C>A" "" "" "" "CYFIP2(NM_001037333.3):c.795+7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035065" "0" "30" "5" "156766062" "156766062" "subst" "0" "01804" "CYFIP2_000056" "g.156766062C>T" "" "" "" "CYFIP2(NM_001037333.3):c.2386-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035066" "0" "50" "5" "156787283" "156787283" "subst" "0" "01804" "CYFIP2_000057" "g.156787283T>C" "" "" "" "CYFIP2(NM_001037333.3):c.2818-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035067" "0" "50" "5" "156810294" "156810294" "subst" "0" "02325" "CYFIP2_000058" "g.156810294G>A" "" "" "" "CYFIP2(NM_001037333.3):c.3134G>A (p.R1045Q)" "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 CYFIP2 ## Count = 83 "{{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}}" "0000248888" "00005982" "10" "82444" "0" "82444" "0" "c.*78682A>G" "r.(=)" "p.(=)" "" "0000249065" "00005982" "10" "70887" "0" "70887" "0" "c.*67125A>G" "r.(=)" "p.(=)" "" "0000296486" "00005982" "10" "83623" "0" "83623" "0" "c.*79861T>C" "r.(=)" "p.(=)" "" "0000304171" "00005982" "90" "79518" "0" "79518" "0" "c.*75756C>A" "r.(=)" "p.(=)" "" "0000337294" "00005982" "10" "70887" "0" "70887" "0" "c.*67125A>G" "r.(=)" "p.(=)" "" "0000339493" "00005982" "10" "83623" "0" "83623" "0" "c.*79861T>C" "r.(=)" "p.(=)" "" "0000341220" "00005982" "90" "79490" "0" "79490" "0" "c.*75728C>A" "r.(=)" "p.(=)" "" "0000342248" "00005982" "10" "82444" "0" "82444" "0" "c.*78682A>G" "r.(=)" "p.(=)" "" "0000347669" "00005982" "70" "2632" "0" "2632" "0" "c.2632A>G" "r.(?)" "p.(Lys878Glu)" "" "0000349023" "00005982" "10" "83679" "0" "83679" "0" "c.*79917C>T" "r.(=)" "p.(=)" "" "0000405522" "00005982" "70" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Arg87Cys)" "" "0000405523" "00005982" "70" "3594" "1" "3594" "1" "c.3594+1G>T" "r.3447_3594del" "p.Glu1149Aspfs*3" "" "0000405524" "00005982" "70" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Arg87Cys)" "" "0000405525" "00005982" "70" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Arg87Cys)" "" "0000405526" "00005982" "70" "2099" "0" "2099" "0" "c.2099A>G" "r.(?)" "p.(Gln700Arg)" "" "0000405527" "00005982" "70" "1917" "0" "1917" "0" "c.1917C>G" "r.(?)" "p.(Ile639Met)" "" "0000405528" "00005982" "70" "1918" "0" "1918" "0" "c.1918G>A" "r.(?)" "p.(Glu640Lys)" "" "0000405529" "00005982" "70" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Arg87Cys)" "" "0000405530" "00005982" "70" "1917" "0" "1917" "0" "c.1917C>G" "r.(?)" "p.(Ile639Met)" "" "0000405531" "00005982" "70" "1363" "0" "1363" "0" "c.1363G>C" "r.(?)" "p.(Ala455Pro)" "" "0000405532" "00005982" "70" "2095" "0" "2095" "0" "c.2095G>C" "r.(?)" "p.(Asp699His)" "" "0000405533" "00005982" "70" "322" "0" "322" "0" "c.322T>C" "r.(?)" "p.(Tyr108His)" "" "0000525068" "00005982" "50" "74030" "0" "74030" "0" "c.*70268G>T" "r.(=)" "p.(=)" "" "0000525069" "00005982" "90" "83210" "0" "83210" "0" "c.*79448G>A" "r.(=)" "p.(=)" "" "0000665720" "00005982" "50" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Arg87Cys)" "" "0000665721" "00005982" "50" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Arg87Cys)" "" "0000665722" "00005982" "50" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Arg87Cys)" "" "0000665723" "00005982" "50" "259" "0" "259" "0" "c.259C>A" "r.(?)" "p.(Arg87Ser)" "" "0000665724" "00005982" "50" "260" "0" "260" "0" "c.260G>A" "r.(?)" "p.(Arg87His)" "" "0000665725" "00005982" "50" "2095" "0" "2095" "0" "c.2095G>C" "r.(?)" "p.(Asp699His)" "" "0000665726" "00005982" "50" "2095" "0" "2095" "0" "c.2095G>C" "r.(?)" "p.(Asp699His)" "" "0000665727" "00005982" "50" "2095" "0" "2095" "0" "c.2095G>T" "r.(?)" "p.(Asp699Tyr)" "" "0000665728" "00005982" "50" "2096" "0" "2096" "0" "c.2096A>G" "r.(?)" "p.(Asp699Gly)" "" "0000665729" "00005982" "50" "932" "0" "932" "0" "c.932T>C" "r.(?)" "p.(Met311Thr)" "" "0000665730" "00005982" "50" "1404" "0" "1404" "0" "c.1404G>C" "r.(?)" "p.(Glu468Asp)" "" "0000665731" "00005982" "50" "1469" "0" "1469" "0" "c.1469C>T" "r.(?)" "p.(Thr490Met)" "" "0000665732" "00005982" "50" "1994" "0" "1994" "0" "c.1994A>G" "r.(?)" "p.(Tyr665Cys)" "" "0000665733" "00005982" "50" "1366" "0" "1366" "0" "c.1366A>G" "r.(?)" "p.(Met456Val)" "" "0000665734" "00005982" "50" "2588" "0" "2588" "0" "c.2588T>C" "r.(?)" "p.(Phe863Ser)" "" "0000665735" "00005982" "50" "3541" "0" "3541" "0" "c.3541C>T" "r.(?)" "p.(His1181Tyr)" "" "0000665736" "00005982" "50" "1983" "-1" "1983" "-1" "c.1983-1G>C" "r.spl" "p.?" "" "0000665737" "00005982" "50" "1501" "0" "1501" "0" "c.1501A>T" "r.(?)" "p.(Lys501*)" "" "0000665738" "00005982" "50" "771" "0" "771" "0" "c.771dup" "r.(?)" "p.(Ser258Glnfs*2)" "" "0000665979" "00005982" "90" "260" "0" "260" "0" "c.260G>T" "r.(?)" "p.(Arg87Leu)" "" "0000665980" "00005982" "90" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Arg87Cys)" "" "0000665981" "00005982" "90" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Arg87Cys)" "" "0000665982" "00005982" "90" "260" "0" "260" "0" "c.260G>C" "r.(?)" "p.(Arg87Pro)" "" "0000689476" "00005982" "30" "2414" "0" "2414" "0" "c.2414G>A" "r.(?)" "p.(Arg805Gln)" "" "0000720321" "00005982" "50" "1328" "0" "1328" "0" "c.1328C>T" "r.(?)" "p.(Thr443Ile)" "" "0000720322" "00005982" "30" "73915" "0" "73915" "0" "c.*70153C>T" "r.(=)" "p.(=)" "" "0000720323" "00005982" "70" "79490" "0" "79490" "0" "c.*75728C>A" "r.(=)" "p.(=)" "" "0000720324" "00005982" "50" "83159" "0" "83159" "0" "c.*79397C>T" "r.(=)" "p.(=)" "" "0000801997" "00005982" "30" "1111" "-17" "1111" "-17" "c.1111-17C>G" "r.(=)" "p.(=)" "" "0000801998" "00005982" "30" "110371" "0" "110371" "0" "c.*106609C>T" "r.(=)" "p.(=)" "" "0000839728" "00005982" "90" "1355" "0" "1355" "0" "c.1355A>T" "r.(?)" "p.(Glu452Val)" "" "0000886717" "00005982" "50" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Thr333Met)" "" "0000886718" "00005982" "30" "3162" "0" "3162" "0" "c.3162C>T" "r.(?)" "p.(=)" "" "0000886719" "00005982" "90" "74100" "0" "74100" "0" "c.*70338G>A" "r.(=)" "p.(=)" "" "0000886720" "00005982" "90" "77851" "0" "77851" "0" "c.*74089G>A" "r.(=)" "p.(=)" "" "0000912275" "00005982" "50" "1363" "0" "1363" "0" "c.1363G>A" "r.(?)" "p.(Ala455Thr)" "" "0000912276" "00005982" "50" "3514" "0" "3514" "0" "c.3514C>T" "r.(?)" "p.(Arg1172Cys)" "" "0000924289" "00005982" "70" "260" "0" "260" "0" "c.260G>A" "r.(?)" "p.(Arg87His)" "" "0000924290" "00005982" "50" "2020" "0" "2020" "0" "c.2020G>T" "r.(?)" "p.(Ala674Ser)" "" "0000924291" "00005982" "70" "79490" "0" "79490" "0" "c.*75728C>A" "r.(=)" "p.(=)" "" "0000929048" "00005982" "90" "79490" "0" "79490" "0" "c.*75728C>A" "r.(=)" "p.(=)" "" "0000948516" "00005982" "50" "3451" "0" "3451" "0" "c.3451T>C" "r.(?)" "p.(Cys1151Arg)" "" "0000976692" "00005982" "30" "388" "-942" "388" "-942" "c.388-942A>C" "r.(=)" "p.(=)" "" "0000976693" "00005982" "30" "1357" "-6" "1357" "-6" "c.1357-6G>A" "r.(=)" "p.(=)" "" "0000976694" "00005982" "30" "2013" "0" "2013" "0" "c.2013C>T" "r.(?)" "p.(=)" "" "0000976695" "00005982" "30" "3446" "8" "3446" "8" "c.3446+8C>T" "r.(=)" "p.(=)" "" "0000976696" "00005982" "30" "3447" "-137" "3447" "-137" "c.3447-137C>T" "r.(=)" "p.(=)" "" "0000976697" "00005982" "50" "175165" "0" "175165" "0" "c.*171403C>T" "r.(=)" "p.(=)" "" "0000994839" "00005982" "50" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Glu118Lys)" "" "0000994840" "00005982" "50" "2673" "2210" "2673" "2210" "c.2673+2210G>A" "r.(=)" "p.(=)" "" "0001007069" "00005982" "70" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Glu250Lys)" "Ex8" "0001014103" "00005982" "30" "2673" "2055" "2673" "2055" "c.2673+2055G>A" "r.(=)" "p.(=)" "" "0001025061" "00005982" "30" "990" "0" "990" "0" "c.990C>T" "r.(?)" "p.(=)" "" "0001035062" "00005982" "30" "-3806" "0" "-3806" "0" "c.-3806T>C" "r.(?)" "p.(=)" "" "0001035063" "00005982" "30" "207" "1908" "207" "1908" "c.207+1908G>A" "r.(=)" "p.(=)" "" "0001035064" "00005982" "30" "795" "7" "795" "7" "c.795+7C>A" "r.(=)" "p.(=)" "" "0001035065" "00005982" "30" "2386" "-3" "2386" "-3" "c.2386-3C>T" "r.spl?" "p.?" "" "0001035066" "00005982" "50" "2818" "-7" "2818" "-7" "c.2818-7T>C" "r.(=)" "p.(=)" "" "0001035067" "00005982" "50" "3134" "0" "3134" "0" "c.3134G>A" "r.(?)" "p.(Arg1045Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 37 "{{screeningid}}" "{{variantid}}" "0000181826" "0000405522" "0000181827" "0000405523" "0000181828" "0000405524" "0000181829" "0000405525" "0000181830" "0000405526" "0000181831" "0000405527" "0000181832" "0000405528" "0000181833" "0000405529" "0000181834" "0000405530" "0000181835" "0000405531" "0000181836" "0000405532" "0000181837" "0000405533" "0000302431" "0000665720" "0000302432" "0000665721" "0000302433" "0000665722" "0000302434" "0000665723" "0000302435" "0000665724" "0000302436" "0000665725" "0000302437" "0000665726" "0000302438" "0000665727" "0000302439" "0000665728" "0000302440" "0000665729" "0000302441" "0000665730" "0000302442" "0000665731" "0000302443" "0000665732" "0000302444" "0000665733" "0000302445" "0000665734" "0000302446" "0000665735" "0000302447" "0000665736" "0000302448" "0000665737" "0000302449" "0000665738" "0000302637" "0000665979" "0000302638" "0000665980" "0000302639" "0000665982" "0000302640" "0000665981" "0000404133" "0000839728" "0000455081" "0001007069"