### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = USP53) # 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}}" "USP53" "ubiquitin specific peptidase 53" "4" "q26" "unknown" "NC_000004.11" "UD_132610677980" "" "https://www.LOVD.nl/USP53" "" "1" "29255" "54532" "0" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/USP53_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-06-12 14:11:25" "00006" "2025-10-22 11:14:50" ## 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}}" "00022522" "USP53" "ubiquitin specific peptidase 53" "001" "NM_019050.2" "" "NP_061923.2" "" "" "" "-1066" "5529" "3222" "120133782" "120216673" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05432" "PFIC" "cholestasis, intrahepatic, familial, progressive (PFIC)" "" "" "" "" "" "00006" "2018-05-30 09:45:17" "00006" "2018-05-30 09:54:27" "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 = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{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}}" "00303468" "" "" "" "1" "" "00006" "{PMID:Zhang 2020:32124521}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "Fam1" "00303469" "" "" "" "1" "" "00006" "{PMID:Zhang 2020:32124521}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "" "Fam2" "00303470" "" "" "" "1" "" "00006" "{PMID:Zhang 2020:32124521}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "Fam3" "00303471" "" "" "" "1" "" "00006" "{PMID:Zhang 2020:32124521}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "" "Fam4" "00303472" "" "" "" "1" "" "00006" "{PMID:Zhang 2020:32124521}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "Fam5" "00303473" "" "" "" "1" "" "00006" "{PMID:Zhang 2020:32124521}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "" "Fam6" "00303474" "" "" "" "1" "" "00006" "{PMID:Zhang 2020:32124521}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "" "Fam7" "00303475" "" "" "" "1" "" "00006" "Alawbathani ESHG2020 C15.09" "2-generation family, 1 affected" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam" "00303476" "" "" "" "1" "" "00006" "Alawbathani ESHG2020 C15.09" "2-generation family, 1 affected" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam" "00303477" "" "" "" "1" "" "00006" "Alawbathani ESHG2020 C15.09" "2-generation family, 1 affected" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam" "00303478" "" "" "" "1" "" "00006" "Alawbathani ESHG2020 C15.09" "2-generation family, 1 affected" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam" "00303479" "" "" "" "1" "" "00006" "Alawbathani ESHG2020 C15.09" "2-generation family, 1 affected" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam" "00303480" "" "" "" "3" "" "00006" "{PMID:Maddirevula 2019:30250217}" "5-generation family, 3 affected, unaffected heterozygous carrier parents/relatives" "F" "" "Saudi Arabia" "" "0" "" "" "" "Fam5PatIII1" "00307082" "" "" "" "1" "" "00006" "{PMID:Motta 2020:32721402}, {DOI:Motta 2020:10.1016/j.ajhg.2020.06.018}" "" "M" "no" "Spain" "" "0" "" "" "white" "Pat7" "00457273" "" "" "00303480" "1" "" "00006" "{PMID:Maddirevula 2019:30250217}" "relative" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam5PatV1" "00457274" "" "" "00303480" "1" "" "00006" "{PMID:Maddirevula 2019:30250217}" "relative" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam5PatV4" "00464333" "" "" "" "1" "" "03676" "" "" "M" "yes" "Egypt" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 17 "{{individualid}}" "{{diseaseid}}" "00303468" "00198" "00303469" "00198" "00303470" "00198" "00303471" "00198" "00303472" "00198" "00303473" "00198" "00303474" "00198" "00303475" "00198" "00303476" "00198" "00303477" "00198" "00303478" "00198" "00303479" "00198" "00303480" "00198" "00307082" "05611" "00457273" "00198" "00457274" "00198" "00464333" "05432" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05432, 05611 ## Count = 16 "{{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}}" "0000230548" "00198" "00303468" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "low-GGT intrahepatic cholestasis" "" "0000230549" "00198" "00303469" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "low-GGT intrahepatic cholestasis" "" "0000230550" "00198" "00303470" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "low-GGT intrahepatic cholestasis" "" "0000230551" "00198" "00303471" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "low-GGT intrahepatic cholestasis" "" "0000230552" "00198" "00303472" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "low-GGT intrahepatic cholestasis" "" "0000230553" "00198" "00303473" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "low-GGT intrahepatic cholestasis" "" "0000230554" "00198" "00303474" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "low-GGT intrahepatic cholestasis" "" "0000230555" "00198" "00303475" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "intrahepatic cholestasis" "" "0000230556" "00198" "00303476" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "intrahepatic cholestasis" "" "0000230557" "00198" "00303477" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "intrahepatic cholestasis" "" "0000230558" "00198" "00303478" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "intrahepatic cholestasis" "" "0000230559" "00198" "00303479" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "intrahepatic cholestasis" "" "0000230560" "00198" "00303480" "00006" "Familial, autosomal recessive" "23y" "intractable itching, normal GGT cholestasis; deafness; 6y-living-related liver transplantation, 23y alive" "" "" "" "" "" "" "" "" "" "intractable itching, normal GGT cholestasis" "" "0000232900" "05611" "00307082" "00006" "Familial, autosomal recessive" "8y" "birth height 47 cm (-1.52 SD), weight 2,170 g (-2.75 SD), OFC 33.5 cm (-1.11 SD); height 111 cm (-2.88 SD), weight 18 kg (-2.65 SD), OFC 48 cm (-3.25 SD); developmental delay; intellectual disability; speech delay; severe attention deficit hyperactivity disorder; learning disorder; hypotonia; 5y-epilepsy, generalized seizures, controlled with valproic acid; no cardiac defect; hyperlaxity, short and puffy hands and feet, tapered fingers, mild metatarsus varus; prominent metopic ridge, bitemporal narrowing, mild hypertelorism, downslanted palpebral fissures, ptosis, low-set posteriorly rotated ears, wide nasal bridge, high arched palate, widely spaced teeth, pointed chin, low posterior hairline, webbed/short neck; no skin anomalies; no cryptorchidism; no GER; no recurrent infections; no lymphatic involvement; no bleeding, no easy bruising; no hearing problems; normal MRI/CT" "" "" "" "" "" "" "" "" "" "neurodegeneration" "" "0000345766" "00198" "00457273" "00006" "Familial, autosomal recessive" "15y" "hypocalcemia, intractable itching; deafness; 15y-alive with native liver" "" "5m" "" "" "" "" "" "" "" "hypocalcemia, intractable itching" "" "0000345767" "00198" "00457274" "00006" "Familial, autosomal recessive" "3y" "intractable itching, normal GGT cholestasis; 3y-alive with native liver" "" "1y" "" "" "" "" "" "" "" "intractable itching, normal GGT cholestasis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000304597" "00303468" "1" "00006" "00006" "2020-06-12 19:27:13" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304598" "00303469" "1" "00006" "00006" "2020-06-12 19:27:13" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304599" "00303470" "1" "00006" "00006" "2020-06-12 19:27:13" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304600" "00303471" "1" "00006" "00006" "2020-06-12 19:27:13" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304601" "00303472" "1" "00006" "00006" "2020-06-12 19:27:13" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304602" "00303473" "1" "00006" "00006" "2020-06-12 19:27:13" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304603" "00303474" "1" "00006" "00006" "2020-06-12 19:27:13" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304604" "00303475" "1" "00006" "00006" "2020-06-12 19:35:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304605" "00303476" "1" "00006" "00006" "2020-06-12 19:35:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304606" "00303477" "1" "00006" "00006" "2020-06-12 19:35:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304607" "00303478" "1" "00006" "00006" "2020-06-12 19:35:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304608" "00303479" "1" "00006" "00006" "2020-06-12 19:35:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304609" "00303480" "1" "00006" "00006" "2020-06-12 19:43:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308224" "00307082" "1" "00006" "00006" "2020-07-30 09:03:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000458892" "00457273" "1" "00006" "00006" "2024-11-04 10:36:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000458893" "00457274" "1" "00006" "00006" "2024-11-04 10:36:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000465964" "00464333" "1" "03676" "03676" "2025-03-03 12:46:01" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000304597" "USP53" "0000304598" "USP53" "0000304599" "USP53" "0000304600" "USP53" "0000304601" "USP53" "0000304602" "USP53" "0000304603" "USP53" "0000304604" "USP53" "0000304605" "USP53" "0000304606" "USP53" "0000304607" "USP53" "0000304608" "USP53" "0000304609" "USP53" "0000308224" "MAPK1" ## 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 = 39 "{{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}}" "0000336832" "0" "10" "4" "120160829" "120160829" "subst" "0" "02327" "USP53_000002" "g.120160829A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119239674A>G" "" "benign" "" "0000337042" "0" "10" "4" "120177522" "120177522" "subst" "0.361133" "02327" "USP53_000003" "g.120177522G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119256367G>T" "" "benign" "" "0000339323" "0" "10" "4" "120181724" "120181724" "subst" "0.265618" "02327" "USP53_000004" "g.120181724A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119260569A>G" "" "benign" "" "0000339324" "0" "10" "4" "120192632" "120192632" "subst" "0.00366811" "02327" "USP53_000005" "g.120192632T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119271477T>C" "" "benign" "" "0000339325" "0" "10" "4" "120194799" "120194799" "subst" "0.0406495" "02327" "USP53_000007" "g.120194799G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119273644G>A" "" "benign" "" "0000339326" "0" "10" "4" "120214159" "120214159" "subst" "0.00767393" "02327" "USP53_000010" "g.120214159C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119293004C>T" "" "benign" "" "0000339327" "0" "10" "4" "120214291" "120214291" "subst" "0.0333556" "02327" "USP53_000011" "g.120214291T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119293136T>C" "" "benign" "" "0000343785" "0" "10" "4" "120192676" "120192676" "subst" "0.00186463" "02327" "USP53_000006" "g.120192676A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119271521A>G" "" "benign" "" "0000349223" "0" "10" "4" "120214030" "120214030" "subst" "0.280254" "02327" "USP53_000009" "g.120214030T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119292875T>G" "" "benign" "" "0000521417" "0" "50" "4" "120193087" "120193087" "subst" "0" "01804" "USP53_000012" "g.120193087G>A" "" "" "" "USP53(NM_019050.2):c.2072G>A (p.(Ser691Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119271932G>A" "" "VUS" "" "0000521418" "0" "50" "4" "120212365" "120212365" "subst" "0" "01943" "USP53_000013" "g.120212365A>C" "" "" "" "USP53(NM_019050.2):c.2297A>C (p.H766P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119291210A>C" "" "VUS" "" "0000609048" "0" "50" "4" "120192753" "120192753" "subst" "0.000246303" "01943" "USP53_000014" "g.120192753C>T" "" "" "" "USP53(NM_019050.2):c.1738C>T (p.R580W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119271598C>T" "" "VUS" "" "0000609049" "0" "30" "4" "120213532" "120213532" "subst" "0.000501413" "01943" "C4orf3_000002" "g.120213532A>G" "" "" "" "USP53(NM_019050.2):c.2388A>G (p.S796=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119292377A>G" "" "likely benign" "" "0000668072" "3" "90" "4" "120188514" "120188514" "subst" "1.62577E-5" "00006" "USP53_000022" "g.120188514C>T" "" "{PMID:Zhang 2020:32124521}" "" "" "" "Germline" "" "" "0" "" "" "g.119267359C>T" "" "pathogenic (recessive)" "" "0000668073" "11" "90" "4" "120166516" "120166516" "subst" "8.13074E-6" "00006" "USP53_000024" "g.120166516C>T" "" "{PMID:Zhang 2020:32124521}" "" "" "" "Germline" "" "" "0" "" "" "g.119245361C>T" "" "pathogenic (recessive)" "" "0000668074" "1" "90" "4" "120182925" "120182925" "subst" "4.15334E-6" "00006" "USP53_000028" "g.120182925G>T" "" "{PMID:Zhang 2020:32124521}" "" "" "" "Germline" "" "" "0" "" "" "g.119261770G>T" "" "pathogenic (recessive)" "" "0000668075" "11" "90" "4" "120180988" "120180988" "del" "0" "00006" "USP53_000026" "g.120180988del" "" "{PMID:Zhang 2020:32124521}" "" "" "" "Germline" "" "" "0" "" "" "g.119259833del" "" "pathogenic (recessive)" "" "0000668076" "1" "90" "4" "120188514" "120188514" "subst" "1.62577E-5" "00006" "USP53_000022" "g.120188514C>T" "" "{PMID:Zhang 2020:32124521}" "" "" "" "Germline" "" "" "0" "" "" "g.119267359C>T" "" "pathogenic (recessive)" "" "0000668077" "11" "90" "4" "120192573" "120192573" "subst" "4.0665E-6" "00006" "USP53_000029" "g.120192573C>T" "" "{PMID:Zhang 2020:32124521}" "" "" "" "Germline" "" "" "0" "" "" "g.119271418C>T" "" "pathogenic (recessive)" "" "0000668078" "11" "90" "4" "120169962" "120169962" "subst" "4.06326E-6" "00006" "USP53_000025" "g.120169962G>T" "" "{PMID:Zhang 2020:32124521}" "" "" "" "Germline" "" "" "0" "" "" "g.119248807G>T" "" "pathogenic (recessive)" "" "0000668079" "21" "90" "4" "120182881" "120182882" "dup" "0" "00006" "USP53_000027" "g.120182881_120182882dup" "" "{PMID:Zhang 2020:32124521}" "" "" "" "Germline" "" "" "0" "" "" "g.119261726_119261727dup" "" "pathogenic (recessive)" "" "0000668080" "2" "90" "1" "120177680" "120177680" "subst" "0" "00006" "USP53_000021" "g.120177680T>C" "" "{PMID:Zhang 2020:32124521}" "" "" "" "Germline" "" "" "0" "" "" "g.119256525T>C" "" "pathogenic (recessive)" "" "0000668081" "21" "90" "1" "120188514" "120188514" "subst" "0" "00006" "USP53_000022" "g.120188514C>T" "" "{PMID:Zhang 2020:32124521}" "" "" "" "Germline" "" "" "0" "" "" "g.119267359C>T" "" "pathogenic (recessive)" "" "0000668082" "2" "90" "1" "120190983" "120190983" "subst" "0" "00006" "USP53_000023" "g.120190983C>T" "" "{PMID:Zhang 2020:32124521}" "" "" "" "Germline" "" "" "0" "" "" "g.119269828C>T" "" "pathogenic (recessive)" "" "0000668083" "21" "90" "1" "120177423" "120177423" "subst" "0" "00006" "USP53_000020" "g.120177423A>G" "" "{PMID:Zhang 2020:32124521}" "" "" "" "Germline" "" "" "0" "" "" "g.119256268A>G" "" "pathogenic (recessive)" "" "0000668084" "21" "90" "1" "120188514" "120188514" "subst" "0" "00006" "USP53_000022" "g.120188514C>T" "" "Pagnamenta ESHG2020 C20.1" "" "" "" "Germline" "" "" "0" "" "" "g.119267359C>T" "" "pathogenic (recessive)" "" "0000668085" "3" "90" "4" "120177503" "120177504" "del" "0" "00006" "USP53_000015" "g.120177503_120177504del" "" "Alawbathani ESHG2020 C15.09" "" "" "" "Germline" "" "" "0" "" "" "g.119256348_119256349del" "" "pathogenic (recessive)" "" "0000668086" "3" "90" "4" "120181809" "120181809" "del" "0" "00006" "USP53_000016" "g.120181809del" "" "Alawbathani ESHG2020 C15.09" "" "" "" "Germline" "" "" "0" "" "" "g.119260654del" "" "pathogenic (recessive)" "" "0000668087" "3" "90" "4" "120182998" "120182998" "del" "0" "00006" "USP53_000017" "g.120182998del" "" "Alawbathani ESHG2020 C15.09" "" "" "" "Germline" "" "" "0" "" "" "g.119261843del" "" "pathogenic (recessive)" "" "0000668088" "3" "90" "4" "120189501" "120189501" "dup" "0" "00006" "USP53_000018" "g.120189501dup" "" "Alawbathani ESHG2020 C15.09" "" "" "" "Germline" "" "" "0" "" "" "g.119268346dup" "" "pathogenic (recessive)" "" "0000668089" "3" "90" "4" "120192539" "120192539" "subst" "0" "00006" "USP53_000019" "g.120192539T>G" "" "Alawbathani ESHG2020 C15.09" "" "" "" "Germline" "" "" "0" "" "" "g.119271384T>G" "" "pathogenic (recessive)" "" "0000668090" "3" "90" "4" "120182998" "120182998" "del" "0" "00006" "USP53_000017" "g.120182998del" "" "{PMID:Maddirevula 2019:30250217}" "" "951delT" "" "Germline" "yes" "" "0" "" "" "g.119261843del" "" "pathogenic (recessive)" "" "0000675105" "1" "50" "4" "120192864" "120192864" "subst" "0.00342424" "00006" "USP53_000030" "g.120192864C>T" "" "{PMID:Pannone 2020:32721402}, {DOI:Pannone 2020:10.1016/j.ajhg.2020.06.018}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000675106" "2" "50" "4" "120213755" "120213755" "subst" "0.000219743" "00006" "USP53_000031" "g.120213755G>C" "" "{PMID:Pannone 2020:32721402}, {DOI:Pannone 2020:10.1016/j.ajhg.2020.06.018}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000868734" "0" "70" "4" "120169996" "120169996" "subst" "4.06375E-6" "03779" "USP53_000032" "g.120169996C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs767460503" "0" "" "" "" "" "likely pathogenic" "" "0000924048" "0" "50" "4" "120213810" "120213810" "subst" "1.22044E-5" "02326" "C4orf3_000003" "g.120213810G>A" "" "" "" "USP53(NM_019050.2):c.2666G>A (p.C889Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001016464" "3" "90" "4" "120182998" "120182998" "del" "0" "00006" "USP53_000017" "g.120182998del" "" "{PMID:Maddirevula 2019:30250217}" "" "951delT" "" "Germline" "" "" "0" "" "" "g.119261843del" "" "pathogenic (recessive)" "" "0001016465" "3" "90" "4" "120182998" "120182998" "del" "0" "00006" "USP53_000017" "g.120182998del" "" "{PMID:Maddirevula 2019:30250217}" "" "951delT" "" "Germline" "" "" "0" "" "" "g.119261843del" "" "pathogenic (recessive)" "" "0001029751" "3" "90" "4" "120177505" "120177506" "del" "0" "03676" "USP53_000033" "g.120177505_120177506del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.119256350_119256351del" "" "likely pathogenic (recessive)" "ACMG" ## 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 USP53 ## Count = 39 "{{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}}" "0000336832" "00022522" "10" "-86" "0" "-86" "0" "c.-86A>G" "r.(?)" "p.(=)" "" "0000337042" "00022522" "10" "486" "8" "486" "8" "c.486+8G>T" "r.(=)" "p.(=)" "" "0000339323" "00022522" "10" "738" "0" "738" "0" "c.738A>G" "r.(?)" "p.(Thr246=)" "" "0000339324" "00022522" "10" "1617" "0" "1617" "0" "c.1617T>C" "r.(?)" "p.(Ile539=)" "" "0000339325" "00022522" "10" "2187" "0" "2187" "0" "c.2187G>A" "r.(?)" "p.(Thr729=)" "" "0000339326" "00022522" "10" "3015" "0" "3015" "0" "c.3015C>T" "r.(?)" "p.(Asn1005=)" "" "0000339327" "00022522" "10" "3147" "0" "3147" "0" "c.3147T>C" "r.(?)" "p.(Tyr1049=)" "" "0000343785" "00022522" "10" "1661" "0" "1661" "0" "c.1661A>G" "r.(?)" "p.(Asn554Ser)" "" "0000349223" "00022522" "10" "2886" "0" "2886" "0" "c.2886T>G" "r.(?)" "p.(Ser962Arg)" "" "0000521417" "00022522" "50" "2072" "0" "2072" "0" "c.2072G>A" "r.(?)" "p.(Ser691Asn)" "" "0000521418" "00022522" "50" "2297" "0" "2297" "0" "c.2297A>C" "r.(?)" "p.(His766Pro)" "" "0000609048" "00022522" "50" "1738" "0" "1738" "0" "c.1738C>T" "r.(?)" "p.(Arg580Trp)" "" "0000609049" "00022522" "30" "2388" "0" "2388" "0" "c.2388A>G" "r.(?)" "p.(Ser796=)" "" "0000668072" "00022522" "90" "1012" "0" "1012" "0" "c.1012C>T" "r.(?)" "p.(Arg338*)" "" "0000668073" "00022522" "90" "169" "0" "169" "0" "c.169C>T" "r.(?)" "p.(Arg57*)" "" "0000668074" "00022522" "90" "878" "0" "878" "0" "c.878G>T" "r.(?)" "p.(Gly293Val)" "" "0000668075" "00022522" "90" "583" "0" "583" "0" "c.583del" "r.(?)" "p.(Arg195Glufs*38)" "" "0000668076" "00022522" "90" "1012" "0" "1012" "0" "c.1012C>T" "r.(?)" "p.(Arg338*)" "" "0000668077" "00022522" "90" "1558" "0" "1558" "0" "c.1558C>T" "r.(?)" "p.(Arg520*)" "" "0000668078" "00022522" "90" "297" "0" "297" "0" "c.297G>T" "r.(?)" "p.(Arg99Ser)" "" "0000668079" "00022522" "90" "834" "0" "835" "0" "c.834_835dup" "r.(?)" "p.(Val279Glufs*17)" "" "0000668080" "00022522" "90" "569" "2" "569" "2" "c.569+2T>C" "r.spl" "p.?" "" "0000668081" "00022522" "90" "1012" "0" "1012" "0" "c.1012C>T" "r.(?)" "p.(Arg338*)" "" "0000668082" "00022522" "90" "1426" "0" "1426" "0" "c.1426C>T" "r.(?)" "p.(Arg476*)" "" "0000668083" "00022522" "90" "395" "0" "395" "0" "c.395A>G" "r.(?)" "p.(His132Arg)" "" "0000668084" "00022522" "90" "1012" "0" "1012" "0" "c.1012C>T" "r.(?)" "p.(Arg338*)" "" "0000668085" "00022522" "90" "475" "0" "476" "0" "c.475_476del" "r.(?)" "p.(Leu159Valfs*2)" "" "0000668086" "00022522" "90" "822" "1" "822" "1" "c.822+1del" "r.spl" "p.?" "" "0000668087" "00022522" "90" "951" "0" "951" "0" "c.951del" "r.(?)" "p.(Phe317Leufs*6)" "" "0000668088" "00022522" "90" "1214" "0" "1214" "0" "c.1214dup" "r.(?)" "p.(Asn405Lysfs*7)" "" "0000668089" "00022522" "90" "1524" "0" "1524" "0" "c.1524T>G" "r.(?)" "p.(Tyr508*)" "" "0000668090" "00022522" "90" "951" "0" "951" "0" "c.951del" "r.(?)" "p.(Phe317Leufs*6)" "" "0000675105" "00022522" "50" "1849" "0" "1849" "0" "c.1849C>T" "r.(?)" "p.(Pro617Ser)" "" "0000675106" "00022522" "50" "2611" "0" "2611" "0" "c.2611G>C" "r.(?)" "p.(Gly871Arg)" "" "0000868734" "00022522" "70" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111Ter)" "" "0000924048" "00022522" "50" "2666" "0" "2666" "0" "c.2666G>A" "r.(?)" "p.(Cys889Tyr)" "" "0001016464" "00022522" "90" "951" "0" "951" "0" "c.951del" "r.(?)" "p.(Phe317LeufsTer6)" "" "0001016465" "00022522" "90" "951" "0" "951" "0" "c.951del" "r.(?)" "p.(Phe317LeufsTer6)" "" "0001029751" "00022522" "90" "477" "0" "478" "0" "c.477_478del" "r.(?)" "p.(Tyr160*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{variantid}}" "0000304597" "0000668072" "0000304598" "0000668073" "0000304598" "0000668079" "0000304599" "0000668074" "0000304599" "0000668080" "0000304600" "0000668075" "0000304600" "0000668081" "0000304601" "0000668076" "0000304601" "0000668082" "0000304602" "0000668077" "0000304602" "0000668083" "0000304603" "0000668078" "0000304603" "0000668084" "0000304604" "0000668085" "0000304605" "0000668086" "0000304606" "0000668087" "0000304607" "0000668088" "0000304608" "0000668089" "0000304609" "0000668090" "0000308224" "0000675105" "0000308224" "0000675106" "0000458892" "0001016464" "0000458893" "0001016465" "0000465964" "0001029751"