### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PCDHGC4) # 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}}" "PCDHGC4" "protocadherin gamma subfamily C, 4" "5" "q31" "unknown" "NC_000005.9" "UD_136017937124" "" "https://www.LOVD.nl/PCDHGC4" "" "1" "8717" "56098" "606305" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-02-28 11:59:30" "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}}" "00015804" "PCDHGC4" "transcript variant 1" "001" "NM_018928.2" "" "NP_061751.1" "" "" "" "1" "4623" "2817" "140864741" "140892546" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07005" "NEDGS" "neurodevelopmental disorder with poor growth and skeletal anomalies" "AR" "619880" "" "" "" "00006" "2023-02-28 12:00:54" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PCDHGC4" "05611" "PCDHGC4" "07005" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00050575" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00265203" "" "" "" "1" "" "00006" "{PMID:Kiselev 2019:31297131}" "" "F" "" "Sweden" "" "0" "" "" "" "Pat" "00433030" "" "" "" "1" "" "04178" "" "" "M" "yes" "Egypt" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00050575" "00198" "00265203" "05121" "00433030" "07005" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05121, 05611, 07005 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037187" "00198" "00050575" "00006" "Isolated (sporadic)" "" "intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "0000203031" "05121" "00265203" "00006" "Unknown" "53y" "see paper; ..., cardiomyopathy, limb-girdle type muscular dystrophy" "44y" "" "" "" "" "" "" "" "" "muscular dystrophy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050520" "00050575" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000266323" "00265203" "1" "00006" "00006" "2019-09-14 13:39:00" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000434459" "00433030" "1" "04178" "04178" "2023-02-28 11:24:17" "" "" "SEQ-NG" "DNA" "Blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000266323" "MYOF" ## 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 = 78 "{{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}}" "0000079500" "0" "90" "5" "123828524" "145717285" "dup" "0" "00006" "SIL1_000024" "g.123828524_145717285dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.38 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000296796" "0" "10" "5" "140720516" "140720516" "subst" "0.474722" "02325" "PCDHGA1_000003" "g.140720516C>G" "" "" "" "PCDHGA1(NM_018912.3):c.2421+7844C>G, PCDHGA2(NM_018915.4):c.1978C>G (p.L660V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000305148" "0" "30" "5" "140856424" "140856424" "subst" "4.07834E-6" "01943" "PCDHGA1_000040" "g.140856424C>G" "" "" "" "PCDHGC3(NM_002588.4):c.741C>G (p.S247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000330606" "0" "50" "5" "140720358" "140720358" "subst" "0.00729342" "01804" "PCDHGA1_000002" "g.140720358A>G" "" "" "" "PCDHGA2(NM_018915.3):c.1820A>G (p.(His607Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330607" "0" "50" "5" "140724723" "140724723" "subst" "0" "01804" "PCDHGA1_000004" "g.140724723G>T" "" "" "" "PCDHGA3(NM_018916.3):c.1123G>T (p.(Asp375Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330608" "0" "50" "5" "140725322" "140725322" "subst" "8.12282E-6" "01804" "PCDHGA1_000005" "g.140725322C>T" "" "" "" "PCDHGA1(NM_018912.2):c.2421+12650C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330611" "0" "50" "5" "140741548" "140741548" "subst" "0.000224711" "01804" "PCDHGA1_000008" "g.140741548C>A" "" "" "" "PCDHGB2(NM_018923.2):c.1846C>A (p.(Leu616Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330612" "0" "50" "5" "140750024" "140750024" "subst" "0" "01804" "PCDHGA1_000009" "g.140750024G>T" "" "" "" "PCDHGA1(NM_018912.2):c.2421+37352G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330614" "0" "50" "5" "140751866" "140751866" "subst" "0.0023293" "01804" "PCDHGA1_000011" "g.140751866G>T" "" "" "" "PCDHGA1(NM_018912.2):c.2421+39194G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330615" "0" "50" "5" "140752393" "140752393" "subst" "0.000504631" "01804" "PCDHGA1_000012" "g.140752393C>T" "" "" "" "PCDHGB3(NM_032097.1):c.2432C>T (p.(Pro811Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330616" "0" "50" "5" "140762533" "140762533" "subst" "0.00136313" "01804" "PCDHGA1_000013" "g.140762533C>A" "" "" "" "PCDHGA7(NM_018920.3):c.67C>A (p.(Pro23Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330617" "0" "50" "5" "140762659" "140762659" "subst" "0.000451128" "01804" "PCDHGA1_000014" "g.140762659C>T" "" "" "" "PCDHGA7(NM_018920.3):c.193C>T (p.(Arg65Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330619" "0" "50" "5" "140763469" "140763469" "subst" "6.49836E-5" "01804" "PCDHGA1_000015" "g.140763469A>C" "" "" "" "PCDHGA7(NM_018920.3):c.1003A>C (p.(Ile335Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330620" "0" "50" "5" "140768227" "140768227" "subst" "1.21837E-5" "01804" "PCDHGA1_000016" "g.140768227C>A" "" "" "" "PCDHGB4(NM_003736.2):c.776C>A (p.(Thr259Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330621" "0" "50" "5" "140768785" "140768785" "subst" "0" "01804" "PCDHGA1_000017" "g.140768785A>C" "" "" "" "PCDHGB4(NM_003736.2):c.1334A>C (p.(Asp445Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330622" "0" "50" "5" "140768982" "140768982" "subst" "8.14392E-6" "01804" "PCDHGA1_000018" "g.140768982G>A" "" "" "" "PCDHGB4(NM_003736.2):c.1531G>A (p.(Val511Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330626" "0" "50" "5" "140772659" "140772659" "subst" "0" "01804" "PCDHGA1_000022" "g.140772659G>C" "" "" "" "PCDHGA1(NM_018912.2):c.2421+59987G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330627" "0" "50" "5" "140773812" "140773812" "subst" "0.00214074" "01804" "PCDHGA1_000023" "g.140773812G>A" "" "" "" "PCDHGA8(NM_014004.2):c.1432G>A (p.(Asp478Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330628" "0" "50" "5" "140778094" "140778094" "subst" "0.00268843" "01804" "PCDHGA1_000024" "g.140778094A>C" "" "" "" "PCDHGB5(NM_018925.2):c.400A>C (p.(Thr134Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330629" "0" "50" "5" "140778962" "140778962" "subst" "0.00652721" "01804" "PCDHGA1_000025" "g.140778962G>A" "" "" "" "PCDHGB5(NM_018925.2):c.1268G>A (p.(Arg423Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330630" "0" "50" "5" "140787962" "140787962" "subst" "0.0124231" "01804" "PCDHGA1_000026" "g.140787962A>G" "" "" "" "PCDHGB6(NM_018926.2):c.193A>G (p.(Lys65Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330631" "0" "50" "5" "140788804" "140788804" "subst" "8.12203E-5" "01804" "PCDHGA1_000027" "g.140788804A>G" "" "" "" "PCDHGA1(NM_018912.2):c.2421+76132A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330632" "0" "50" "5" "140789185" "140789185" "subst" "2.43756E-5" "01804" "PCDHGA1_000028" "g.140789185G>T" "" "" "" "PCDHGA1(NM_018912.2):c.2421+76513G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330633" "0" "50" "5" "140789686" "140789686" "subst" "4.11858E-6" "01804" "PCDHGA1_000029" "g.140789686C>T" "" "" "" "PCDHGA1(NM_018912.2):c.2421+77014C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330634" "0" "50" "5" "140794752" "140794752" "subst" "2.03522E-5" "01804" "PCDHGA1_000030" "g.140794752C>G" "" "" "" "PCDHGA1(NM_018912.2):c.2422-79622C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330636" "0" "50" "5" "140798879" "140798879" "subst" "0.00136483" "01804" "PCDHGA1_000032" "g.140798879G>C" "" "" "" "PCDHGA1(NM_018912.2):c.2422-75495G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330637" "0" "50" "5" "140798959" "140798959" "subst" "0" "01804" "PCDHGA1_000033" "g.140798959C>A" "" "" "" "PCDHGA1(NM_018912.2):c.2422-75415C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330638" "0" "50" "5" "140799269" "140799269" "subst" "0.00269862" "01804" "PCDHGA1_000034" "g.140799269G>A" "" "" "" "PCDHGB7(NM_018927.3):c.1843G>A (p.(Gly615Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330641" "0" "50" "5" "140802002" "140802002" "subst" "0.00142293" "01804" "PCDHGA1_000037" "g.140802002A>G" "" "" "" "PCDHGA11(NM_018914.2):c.1208A>G (p.(Tyr403Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330643" "0" "50" "5" "140810536" "140810536" "subst" "0.000322352" "01804" "PCDHGA1_000039" "g.140810536T>C" "" "" "" "PCDHGA1(NM_018912.2):c.2422-63838T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330644" "0" "50" "5" "140866992" "140866992" "subst" "2.43683E-5" "01804" "PCDHGA1_000041" "g.140866992G>A" "" "" "" "PCDHGA1(NM_018912.2):c.2422-7382G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330645" "0" "50" "5" "140870306" "140870306" "subst" "0" "01804" "PCDHGA1_000042" "g.140870306G>A" "" "" "" "PCDHGA1(NM_018912.2):c.2422-4068G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000330646" "0" "50" "5" "140896509" "140896509" "subst" "0" "01804" "DIAPH1_000005" "g.140896509A>G" "" "" "" "DIAPH1(NM_001079812.2):c.3701T>C (p.(Met1234Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000347393" "0" "30" "5" "140896444" "140896444" "subst" "0" "02327" "DIAPH1_000020" "g.140896444T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000524536" "0" "50" "5" "140710540" "140710540" "subst" "1.21824E-5" "01943" "PCDHGA1_000044" "g.140710540G>T" "" "" "" "PCDHGA1(NM_018912.2):c.289G>T (p.A97S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000524538" "0" "30" "5" "140711970" "140711970" "subst" "8.53034E-5" "01943" "PCDHGA1_000046" "g.140711970C>T" "" "" "" "PCDHGA1(NM_018912.2):c.1719C>T (p.T573=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000524544" "0" "30" "5" "140755334" "140755334" "subst" "0.00038986" "01943" "PCDHGA1_000052" "g.140755334A>T" "" "" "" "PCDHGA6(NM_018919.2):c.1684A>T (p.I562F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000524546" "0" "30" "5" "140769008" "140769031" "del" "0" "01804" "PCDHGA1_000054" "g.140769008_140769031del" "" "" "" "PCDHGB4(NM_003736.2):c.1545_1568del (p.(Ala517_Arg524del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000524549" "0" "30" "5" "140778580" "140778580" "subst" "0.0116937" "01804" "PCDHGA1_000057" "g.140778580G>A" "" "" "" "PCDHGB5(NM_018925.2):c.886G>A (p.(Glu296Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000524552" "0" "30" "5" "140779777" "140779777" "subst" "0.000836541" "01804" "PCDHGA1_000060" "g.140779777A>C" "" "" "" "PCDHGB5(NM_018925.2):c.2083A>C (p.(Ile695Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000524553" "0" "30" "5" "140782951" "140782951" "subst" "0.000276162" "01804" "PCDHGA1_000061" "g.140782951A>C" "" "" "" "PCDHGA9(NM_018921.2):c.432A>C (p.(Glu144Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000524555" "0" "30" "5" "140788731" "140788731" "subst" "0.00334246" "01804" "PCDHGA1_000063" "g.140788731C>T" "" "" "" "PCDHGB6(NM_018926.2):c.962C>T (p.(Ala321Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000524556" "0" "50" "5" "140792965" "140792965" "subst" "4.06177E-6" "01804" "PCDHGA1_000064" "g.140792965A>G" "" "" "" "PCDHGA10(NM_018913.2):c.223A>G (p.(Arg75Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000524561" "0" "50" "5" "140802466" "140802468" "del" "0" "01804" "PCDHGA1_000069" "g.140802466_140802468del" "" "" "" "PCDHGA11(NM_018914.2):c.1670_1672del (p.(Asp558del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000524562" "0" "30" "5" "140802855" "140802857" "del" "0" "01804" "PCDHGA1_000070" "g.140802855_140802857del" "" "" "" "PCDHGA11(NM_018914.2):c.2060_2062del (p.(Ser688del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000524563" "0" "30" "5" "140810421" "140810421" "subst" "0" "01943" "PCDHGA1_000071" "g.140810421G>A" "" "" "" "PCDHGA12(NM_003735.3):c.95G>A (p.R32H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000524564" "0" "50" "5" "140890702" "140890702" "subst" "0.000365215" "01804" "DIAPH1_000030" "g.140890702G>A" "" "" "" "PCDHGA1(NM_018912.2):c.2758G>A (p.(Gly920Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000596969" "0" "50" "5" "140885037" "140885037" "subst" "0" "00006" "PCDHGA1_000072" "g.140885037C>T" "" "{PMID:Kiselev 2019:31297131}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000609535" "0" "50" "5" "140732226" "140732226" "subst" "0.000141793" "01943" "PCDHGA1_000073" "g.140732226T>C" "" "" "" "PCDHGB1(NM_018922.2):c.2399T>C (p.L800S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000609536" "0" "50" "5" "140784999" "140785003" "dup" "0" "01943" "PCDHGA1_000074" "g.140784999_140785003dup" "" "" "" "PCDHGA9(NM_032089.1):c.2480_2484dupGTTTT (p.*829Vfs*?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000609537" "0" "50" "5" "140884973" "140884973" "subst" "1.23069E-5" "01943" "PCDHGA1_000075" "g.140884973G>A" "" "" "" "PCDHGB1(NM_018922.2):c.2482G>A (p.D828N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720225" "0" "30" "5" "140741031" "140741031" "subst" "4.06088E-6" "01943" "PCDHGA1_000078" "g.140741031C>T" "" "" "" "PCDHGB2(NM_018923.2):c.1329C>T (p.S443=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720226" "0" "30" "5" "140783164" "140783164" "subst" "2.44159E-5" "01943" "PCDHGA1_000079" "g.140783164G>T" "" "" "" "PCDHGA9(NM_018921.2):c.645G>T (p.S215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801927" "0" "50" "5" "140767629" "140767629" "subst" "0" "01943" "PCDHGA1_000080" "g.140767629G>C" "" "" "" "PCDHGB4(NM_003736.2):c.178G>C (p.E60Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801928" "0" "30" "5" "140769731" "140769731" "subst" "4.87333E-5" "01943" "PCDHGA1_000081" "g.140769731G>A" "" "" "" "PCDHGB4(NM_003736.2):c.2280G>A (p.T760=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850805" "0" "30" "5" "140753671" "140753671" "subst" "0.000158279" "01943" "PCDHGA1_000083" "g.140753671T>G" "" "" "" "PCDHGA6(NM_018919.2):c.21T>G (p.H7Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850806" "0" "50" "5" "140867006" "140867006" "subst" "0.000138087" "01943" "PCDHGA1_000085" "g.140867006T>A" "" "" "" "PCDHGC4(NM_018928.2):c.2266T>A (p.S756T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859785" "0" "50" "5" "140741215" "140741215" "subst" "0" "01943" "PCDHGA1_000082" "g.140741215G>A" "" "" "" "PCDHGB2(NM_018923.2):c.1513G>A (p.V505M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859786" "0" "30" "5" "140783500" "140783500" "subst" "4.06167E-6" "01943" "PCDHGA1_000084" "g.140783500G>T" "" "" "" "PCDHGA9(NM_018921.2):c.981G>T (p.L327F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886648" "0" "30" "5" "140896472" "140896472" "subst" "0.00220118" "02326" "DIAPH1_000106" "g.140896472C>T" "" "" "" "DIAPH1(NM_005219.5):c.3765G>A (p.E1255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000920220" "3" "90" "5" "140866203" "140866203" "subst" "0" "04178" "PCDHGC4_000001" "g.140866203C>T" "" "" "" "" "" "Germline" "yes" "rs775104626" "" "" "" "" "" "pathogenic" "other" "0000976603" "0" "50" "5" "140725143" "140725143" "subst" "0.000105579" "01804" "PCDHGA1_000087" "g.140725143T>A" "" "" "" "PCDHGA3(NM_018916.4):c.1543T>A (p.(Tyr515Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976604" "0" "30" "5" "140725648" "140725648" "subst" "0.00262369" "01804" "PCDHGA1_000088" "g.140725648A>T" "" "" "" "PCDHGA3(NM_018916.4):c.2048A>T (p.(Lys683Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976605" "0" "50" "5" "140890595" "140890595" "subst" "4.1024E-6" "01804" "DIAPH1_000121" "g.140890595T>G" "" "" "" "PCDHGC4(NM_018928.3):c.2672T>G (p.(Leu891Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994711" "0" "50" "5" "140772582" "140772582" "subst" "1.62551E-5" "01804" "PCDHGA1_000089" "g.140772582T>A" "" "" "" "PCDHGA8(NM_032088.1):c.202T>A (p.(Ser68Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994712" "0" "30" "5" "140773791" "140773791" "subst" "0.000284336" "01804" "PCDHGA1_000090" "g.140773791A>G" "" "" "" "PCDHGA8(NM_032088.1):c.1411A>G (p.(Ile471Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994713" "0" "50" "5" "140774072" "140774072" "subst" "4.06108E-6" "01804" "PCDHGA1_000091" "g.140774072C>A" "" "" "" "PCDHGA8(NM_032088.1):c.1692C>A (p.(Tyr564*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994714" "0" "30" "5" "140812178" "140812178" "subst" "0.00050378" "01804" "PCDHGA1_000092" "g.140812178T>G" "" "" "" "PCDHGA12(NM_003735.2):c.1852T>G (p.(Ser618Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034945" "0" "50" "5" "140730262" "140730262" "del" "0" "01804" "PCDHGA1_000093" "g.140730262del" "" "" "" "PCDHGB1(NM_018922.3):c.435del (p.(Val147*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034946" "0" "30" "5" "140731049" "140731059" "delins" "0" "01804" "PCDHGA1_000094" "g.140731049_140731059delinsAGGGAGCAGAA" "" "" "" "PCDHGB1(NM_018922.3):c.1222_1232delinsAGGGAGCAGAA (p.(Thr411Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034947" "0" "30" "5" "140731059" "140731059" "subst" "0.00663562" "01804" "PCDHGA1_000095" "g.140731059C>A" "" "" "" "PCDHGB1(NM_018922.3):c.1232C>A (p.(Thr411Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034948" "0" "50" "5" "140865466" "140865466" "subst" "8.12757E-6" "01804" "PCDHGA1_000096" "g.140865466C>G" "" "" "" "PCDHGC4(NM_018928.3):c.726C>G (p.(Phe242Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034949" "0" "50" "5" "140866037" "140866037" "subst" "0" "01804" "PCDHGA1_000097" "g.140866037C>T" "" "" "" "PCDHGC4(NM_018928.3):c.1297C>T (p.(Pro433Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034950" "0" "30" "5" "140874422" "140874422" "subst" "0.000812361" "01804" "PCDHGA1_000098" "g.140874422G>A" "" "" "" "PCDHGC4(NM_018928.3):c.2491G>A (p.(Gly831Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052129" "0" "50" "5" "140711206" "140711206" "subst" "6.09791E-5" "01804" "PCDHGA1_000099" "g.140711206G>C" "" "" "" "PCDHGA1(NM_018912.3):c.955G>C (p.(Val319Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052130" "0" "50" "5" "140711225" "140711225" "subst" "1.62686E-5" "01804" "PCDHGA1_000100" "g.140711225C>T" "" "" "" "PCDHGA1(NM_018912.3):c.974C>T (p.(Ala325Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052131" "0" "70" "5" "140866769" "140866769" "subst" "4.06088E-6" "01804" "PCDHGA1_000101" "g.140866769C>T" "" "" "" "PCDHGC4(NM_018928.3):c.2029C>T (p.(Arg677*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001052132" "0" "50" "5" "140890603" "140890603" "subst" "4.10256E-5" "01804" "DIAPH1_000131" "g.140890603G>A" "" "" "" "PCDHGC4(NM_018928.3):c.2680G>A (p.(Val894Met))" "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 PCDHGC4 ## Count = 78 "{{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}}" "0000079500" "00015804" "00" "-8388608" "0" "4829362" "0" "c.-17036217_*4826545dup" "" "" "" "0000296796" "00015804" "10" "-144225" "0" "-144225" "0" "c.-144225C>G" "r.(?)" "p.(=)" "" "0000305148" "00015804" "30" "-8317" "0" "-8317" "0" "c.-8317C>G" "r.(?)" "p.(=)" "" "0000330606" "00015804" "50" "-144383" "0" "-144383" "0" "c.-144383A>G" "r.(?)" "p.(=)" "" "0000330607" "00015804" "50" "-140018" "0" "-140018" "0" "c.-140018G>T" "r.(?)" "p.(=)" "" "0000330608" "00015804" "50" "-139419" "0" "-139419" "0" "c.-139419C>T" "r.(?)" "p.(=)" "" "0000330611" "00015804" "50" "-123193" "0" "-123193" "0" "c.-123193C>A" "r.(?)" "p.(=)" "" "0000330612" "00015804" "50" "-114717" "0" "-114717" "0" "c.-114717G>T" "r.(?)" "p.(=)" "" "0000330614" "00015804" "50" "-112875" "0" "-112875" "0" "c.-112875G>T" "r.(?)" "p.(=)" "" "0000330615" "00015804" "50" "-112348" "0" "-112348" "0" "c.-112348C>T" "r.(?)" "p.(=)" "" "0000330616" "00015804" "50" "-102208" "0" "-102208" "0" "c.-102208C>A" "r.(?)" "p.(=)" "" "0000330617" "00015804" "50" "-102082" "0" "-102082" "0" "c.-102082C>T" "r.(?)" "p.(=)" "" "0000330619" "00015804" "50" "-101272" "0" "-101272" "0" "c.-101272A>C" "r.(?)" "p.(=)" "" "0000330620" "00015804" "50" "-96514" "0" "-96514" "0" "c.-96514C>A" "r.(?)" "p.(=)" "" "0000330621" "00015804" "50" "-95956" "0" "-95956" "0" "c.-95956A>C" "r.(?)" "p.(=)" "" "0000330622" "00015804" "50" "-95759" "0" "-95759" "0" "c.-95759G>A" "r.(?)" "p.(=)" "" "0000330626" "00015804" "50" "-92082" "0" "-92082" "0" "c.-92082G>C" "r.(?)" "p.(=)" "" "0000330627" "00015804" "50" "-90929" "0" "-90929" "0" "c.-90929G>A" "r.(?)" "p.(=)" "" "0000330628" "00015804" "50" "-86647" "0" "-86647" "0" "c.-86647A>C" "r.(?)" "p.(=)" "" "0000330629" "00015804" "50" "-85779" "0" "-85779" "0" "c.-85779G>A" "r.(?)" "p.(=)" "" "0000330630" "00015804" "50" "-76779" "0" "-76779" "0" "c.-76779A>G" "r.(?)" "p.(=)" "" "0000330631" "00015804" "50" "-75937" "0" "-75937" "0" "c.-75937A>G" "r.(?)" "p.(=)" "" "0000330632" "00015804" "50" "-75556" "0" "-75556" "0" "c.-75556G>T" "r.(?)" "p.(=)" "" "0000330633" "00015804" "50" "-75055" "0" "-75055" "0" "c.-75055C>T" "r.(?)" "p.(=)" "" "0000330634" "00015804" "50" "-69989" "0" "-69989" "0" "c.-69989C>G" "r.(?)" "p.(=)" "" "0000330636" "00015804" "50" "-65862" "0" "-65862" "0" "c.-65862G>C" "r.(?)" "p.(=)" "" "0000330637" "00015804" "50" "-65782" "0" "-65782" "0" "c.-65782C>A" "r.(?)" "p.(=)" "" "0000330638" "00015804" "50" "-65472" "0" "-65472" "0" "c.-65472G>A" "r.(?)" "p.(=)" "" "0000330641" "00015804" "50" "-62739" "0" "-62739" "0" "c.-62739A>G" "r.(?)" "p.(=)" "" "0000330643" "00015804" "50" "-54205" "0" "-54205" "0" "c.-54205T>C" "r.(?)" "p.(=)" "" "0000330644" "00015804" "50" "2252" "0" "2252" "0" "c.2252G>A" "r.(?)" "p.(Arg751Gln)" "" "0000330645" "00015804" "50" "2442" "3124" "2442" "3124" "c.2442+3124G>A" "r.(=)" "p.(=)" "" "0000330646" "00015804" "50" "8586" "0" "8586" "0" "c.*5769A>G" "r.(=)" "p.(=)" "" "0000347393" "00015804" "30" "8521" "0" "8521" "0" "c.*5704T>A" "r.(=)" "p.(=)" "" "0000524536" "00015804" "50" "-154201" "0" "-154201" "0" "c.-154201G>T" "r.(?)" "p.(=)" "" "0000524538" "00015804" "30" "-152771" "0" "-152771" "0" "c.-152771C>T" "r.(?)" "p.(=)" "" "0000524544" "00015804" "30" "-109407" "0" "-109407" "0" "c.-109407A>T" "r.(?)" "p.(=)" "" "0000524546" "00015804" "30" "-95733" "0" "-95710" "0" "c.-95733_-95710del" "r.(?)" "p.(=)" "" "0000524549" "00015804" "30" "-86161" "0" "-86161" "0" "c.-86161G>A" "r.(?)" "p.(=)" "" "0000524552" "00015804" "30" "-84964" "0" "-84964" "0" "c.-84964A>C" "r.(?)" "p.(=)" "" "0000524553" "00015804" "30" "-81790" "0" "-81790" "0" "c.-81790A>C" "r.(?)" "p.(=)" "" "0000524555" "00015804" "30" "-76010" "0" "-76010" "0" "c.-76010C>T" "r.(?)" "p.(=)" "" "0000524556" "00015804" "50" "-71776" "0" "-71776" "0" "c.-71776A>G" "r.(?)" "p.(=)" "" "0000524561" "00015804" "50" "-62275" "0" "-62273" "0" "c.-62275_-62273del" "r.(?)" "p.(=)" "" "0000524562" "00015804" "30" "-61886" "0" "-61884" "0" "c.-61886_-61884del" "r.(?)" "p.(=)" "" "0000524563" "00015804" "30" "-54320" "0" "-54320" "0" "c.-54320G>A" "r.(?)" "p.(=)" "" "0000524564" "00015804" "50" "2779" "0" "2779" "0" "c.2779G>A" "r.(?)" "p.(Gly927Ser)" "" "0000596969" "00015804" "50" "2579" "0" "2579" "0" "c.2579C>T" "r.(?)" "p.(Ala860Val)" "" "0000609535" "00015804" "50" "-132515" "0" "-132515" "0" "c.-132515T>C" "r.(?)" "p.(=)" "" "0000609536" "00015804" "50" "-79742" "0" "-79738" "0" "c.-79742_-79738dup" "r.(?)" "p.(=)" "" "0000609537" "00015804" "50" "2515" "0" "2515" "0" "c.2515G>A" "r.(?)" "p.(Asp839Asn)" "" "0000720225" "00015804" "30" "-123710" "0" "-123710" "0" "c.-123710C>T" "r.(?)" "p.(=)" "" "0000720226" "00015804" "30" "-81577" "0" "-81577" "0" "c.-81577G>T" "r.(?)" "p.(=)" "" "0000801927" "00015804" "50" "-97112" "0" "-97112" "0" "c.-97112G>C" "r.(?)" "p.(=)" "" "0000801928" "00015804" "30" "-95010" "0" "-95010" "0" "c.-95010G>A" "r.(?)" "p.(=)" "" "0000850805" "00015804" "30" "-111070" "0" "-111070" "0" "c.-111070T>G" "r.(?)" "p.(=)" "" "0000850806" "00015804" "50" "2266" "0" "2266" "0" "c.2266T>A" "r.(?)" "p.(Ser756Thr)" "" "0000859785" "00015804" "50" "-123526" "0" "-123526" "0" "c.-123526G>A" "r.(?)" "p.(=)" "" "0000859786" "00015804" "30" "-81241" "0" "-81241" "0" "c.-81241G>T" "r.(?)" "p.(=)" "" "0000886648" "00015804" "30" "8549" "0" "8549" "0" "c.*5732C>T" "r.(=)" "p.(=)" "" "0000920220" "00015804" "90" "1463" "0" "1463" "0" "c.1463C>T" "r.(?)" "p.(Ala488Val)" "" "0000976603" "00015804" "50" "-139598" "0" "-139598" "0" "c.-139598T>A" "r.(?)" "p.(=)" "" "0000976604" "00015804" "30" "-139093" "0" "-139093" "0" "c.-139093A>T" "r.(?)" "p.(=)" "" "0000976605" "00015804" "50" "2672" "0" "2672" "0" "c.2672T>G" "r.(?)" "p.(Leu891Arg)" "" "0000994711" "00015804" "50" "-92159" "0" "-92159" "0" "c.-92159T>A" "r.(?)" "p.(=)" "" "0000994712" "00015804" "30" "-90950" "0" "-90950" "0" "c.-90950A>G" "r.(?)" "p.(=)" "" "0000994713" "00015804" "50" "-90669" "0" "-90669" "0" "c.-90669C>A" "r.(?)" "p.(=)" "" "0000994714" "00015804" "30" "-52563" "0" "-52563" "0" "c.-52563T>G" "r.(?)" "p.(=)" "" "0001034945" "00015804" "50" "-134479" "0" "-134479" "0" "c.-134479del" "r.(?)" "p.(=)" "" "0001034946" "00015804" "30" "-133692" "0" "-133682" "0" "c.-133692_-133682delinsAGGGAGCAGAA" "r.(?)" "p.(=)" "" "0001034947" "00015804" "30" "-133682" "0" "-133682" "0" "c.-133682C>A" "r.(?)" "p.(=)" "" "0001034948" "00015804" "50" "726" "0" "726" "0" "c.726C>G" "r.(?)" "p.(Phe242Leu)" "" "0001034949" "00015804" "50" "1297" "0" "1297" "0" "c.1297C>T" "r.(?)" "p.(Pro433Ser)" "" "0001034950" "00015804" "30" "2491" "0" "2491" "0" "c.2491G>A" "r.(?)" "p.(Gly831Ser)" "" "0001052129" "00015804" "50" "-153535" "0" "-153535" "0" "c.-153535G>C" "r.(?)" "p.(=)" "" "0001052130" "00015804" "50" "-153516" "0" "-153516" "0" "c.-153516C>T" "r.(?)" "p.(=)" "" "0001052131" "00015804" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "" "0001052132" "00015804" "50" "2680" "0" "2680" "0" "c.2680G>A" "r.(?)" "p.(Val894Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000050520" "0000079500" "0000266323" "0000596969" "0000434459" "0000920220"