### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = VPS4A) # 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}}" "VPS4A" "vacuolar protein sorting 4 homolog A (S. cerevisiae)" "16" "q23.1" "unknown" "NC_000016.9" "UD_136022365233" "" "https://www.LOVD.nl/VPS4A" "" "1" "13488" "27183" "609982" "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/VPS4A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-11-24 13:23:30" "00000" "2026-01-20 18:57:21" ## 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}}" "00022629" "VPS4A" "vacuolar protein sorting 4 homolog A (S. cerevisiae)" "001" "NM_013245.2" "" "NP_037377.1" "" "" "" "-128" "2048" "1314" "69345287" "69358946" "" "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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "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 = 1 "{{geneid}}" "{{diseaseid}}" "VPS4A" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00302775" "" "" "" "1" "" "00006" "{PMID:Hamdan 2015:25356899}" "" "M" "" "Canada" "" "0" "" "" "" "985.382" "00320213" "" "" "" "1" "" "00006" "{PMID:Seu 2020:33186543}, {DOI:Seu 2020:10.1016/j.ajhg.2020.10.013}" "" "F" "" "United States" "" "0" "" "" "European;Hispanic-American" "Pat1" "00320214" "" "" "" "1" "" "00006" "{PMID:Seu 2020:33186543}, {DOI:Seu 2020:10.1016/j.ajhg.2020.10.013}" "" "M" "" "United States" "" "0" "" "" "European;Hispanic-American" "Pat2" "00320215" "" "" "" "1" "" "00006" "{PMID:Seu 2020:33186543}, {DOI:Seu 2020:10.1016/j.ajhg.2020.10.013}" "" "F" "" "" "" "0" "" "" "Arab" "Pat3" "00320217" "" "" "" "1" "" "00006" "{PMID:Rodger 2020:33186545}, {DOI:Rodger 2020:10.1016/j.ajhg.2020.10.012}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Pat1" "00320218" "" "" "" "1" "" "00006" "{PMID:Rodger 2020:33186545}, {DOI:Rodger 2020:10.1016/j.ajhg.2020.10.012}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Italy" "29y" "0" "" "" "white" "Pat2" "00320219" "" "" "" "1" "" "00006" "{PMID:Rodger 2020:33186545}, {DOI:Rodger 2020:10.1016/j.ajhg.2020.10.012}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United Kingdom (Great Britain)" "26m" "0" "" "" "white" "Pat3" "00320220" "" "" "" "1" "" "00006" "{PMID:Rodger 2020:33186545}, {DOI:Rodger 2020:10.1016/j.ajhg.2020.10.012}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "white" "Pat4" "00320221" "" "" "" "1" "" "00006" "{PMID:Rodger 2020:33186545}, {DOI:Rodger 2020:10.1016/j.ajhg.2020.10.012}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "white" "Pat5" "00320222" "" "" "" "1" "" "00006" "{PMID:Rodger 2020:33186545}, {DOI:Rodger 2020:10.1016/j.ajhg.2020.10.012}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Pat6" "00320223" "" "" "" "1" "" "00006" "{PMID:Rodger 2020:33186545}, {DOI:Rodger 2020:10.1016/j.ajhg.2020.10.012}" "" "" "" "United States" "" "0" "" "" "" "Fam" "00320224" "" "" "" "1" "" "00006" "{PMID:Rodger 2020:33186545}, {DOI:Rodger 2020:10.1016/j.ajhg.2020.10.012}" "" "" "" "United States" "" "0" "" "" "" "Fam" "00320225" "" "" "" "1" "" "00006" "{PMID:Rodger 2020:33186545}, {DOI:Rodger 2020:10.1016/j.ajhg.2020.10.012}" "" "" "" "United States" "" "0" "" "" "" "Fam" "00320226" "" "" "" "1" "" "00006" "{PMID:Rodger 2020:33186545}, {DOI:Rodger 2020:10.1016/j.ajhg.2020.10.012}" "" "" "" "United States" "" "0" "" "" "" "Fam" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00302775" "00139" "00320213" "05611" "00320214" "05611" "00320215" "05611" "00320217" "05611" "00320218" "05611" "00320219" "05611" "00320220" "05611" "00320221" "05611" "00320222" "05611" "00320223" "00198" "00320224" "00198" "00320225" "00198" "00320226" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05611 ## Count = 14 "{{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}}" "0000229857" "00139" "00302775" "00006" "Isolated (sporadic)" "4y6m" "severe intellectual disability; no speech; not walking; no epilepsy; no autistic features; acquired microcephaly; no macrocephaly; MRI brain atrophy, ventriculomegaly, decreased white matter and thin corpus callosum; central hypotonia, spasticity; no congenitial malformations; no cardiac malformations; no urogenitory abnormalities" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000242259" "05611" "00320213" "00006" "Isolated (sporadic)" "06y" "increased irritability when anemia worsens; transfusion every 4–6 weeks; severe global developmental delay, microcephaly, microgyria, dystonia (axial hypotonia with appendicular hypertonia), suspected Leber congenital amaurosis and/or cortical blindness, failure to thrive, frequent urinary tract infections" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000242260" "05611" "00320214" "00006" "Isolated (sporadic)" "05y" "transfusion every 4–10 weeks; severe global developmental delay, seizure disorder, microcephaly, microgyria, dystonia (axial hypotonia with appendicular hypertonia), congenital bilateral cataracts, failure to thrive, chronic kidney disease (stage II-III)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000242261" "05611" "00320215" "00006" "Familial, autosomal recessive" "03y" "transfusion occasionally (every 2-6m); global developmental delay, macrocephaly, dystonia (axial hypotonia with appendicular hypertonia), delayed myelination, esotropia, frequent urinary tract infections" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000242263" "05611" "00320217" "00006" "Isolated (sporadic)" "2y" "see paper; ..., severe intellectual disability" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000242264" "05611" "00320218" "00006" "Isolated (sporadic)" "29y" "see paper; ..., severe intellectual disability" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000242265" "05611" "00320219" "00006" "Isolated (sporadic)" "2y" "see paper; ..., severe intellectual disability" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000242266" "05611" "00320220" "00006" "Isolated (sporadic)" "6m" "see paper; ..., severe intellectual disability" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000242267" "05611" "00320221" "00006" "Isolated (sporadic)" "6y" "see paper; ..., severe intellectual disability" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000242268" "05611" "00320222" "00006" "Isolated (sporadic)" "23y" "see paper; ..., severe intellectual disability" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000242269" "00198" "00320223" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242270" "00198" "00320224" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242271" "00198" "00320225" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242272" "00198" "00320226" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000303901" "00302775" "1" "00006" "00006" "2020-06-01 10:33:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000321398" "00320213" "1" "00006" "00006" "2020-11-24 13:23:14" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000321399" "00320214" "1" "00006" "00006" "2020-11-24 13:23:14" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000321400" "00320215" "1" "00006" "00006" "2020-11-24 13:23:14" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000321402" "00320217" "1" "00006" "00006" "2020-11-24 13:51:00" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WGS" "0000321403" "00320218" "1" "00006" "00006" "2020-11-24 13:51:00" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000321404" "00320219" "1" "00006" "00006" "2020-11-24 13:51:00" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WGS" "0000321405" "00320220" "1" "00006" "00006" "2020-11-24 13:51:00" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WGS" "0000321406" "00320221" "1" "00006" "00006" "2020-11-24 13:51:00" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000321407" "00320222" "1" "00006" "00006" "2020-11-24 13:51:00" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WGS" "0000321408" "00320223" "1" "00006" "00006" "2020-11-24 13:59:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000321409" "00320224" "1" "00006" "00006" "2020-11-24 13:59:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000321410" "00320225" "1" "00006" "00006" "2020-11-24 13:59:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000321411" "00320226" "1" "00006" "00006" "2020-11-24 13:59:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000303901" "VPS4A" "0000321398" "VPS4A" "0000321399" "VPS4A" "0000321400" "VPS4A" "0000321402" "VPS4A" "0000321403" "VPS4A" "0000321404" "VPS4A" "0000321405" "VPS4A" "0000321406" "VPS4A" "0000321407" "VPS4A" "0000321408" "VPS4A" "0000321409" "VPS4A" "0000321410" "VPS4A" "0000321411" "VPS4A" ## 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 = 25 "{{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}}" "0000324850" "0" "30" "16" "69362947" "69362947" "subst" "0.000245398" "01804" "COG8_000001" "g.69362947T>C" "" "" "" "PDF(NM_022341.1):c.710A>G (p.(Tyr237Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69329044T>C" "" "likely benign" "" "0000558886" "0" "50" "16" "69353434" "69353434" "subst" "0" "01804" "VPS4A_000001" "g.69353434G>A" "" "" "" "VPS4A(NM_013245.2):c.608G>A (p.(Gly203Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69319531G>A" "" "VUS" "" "0000558887" "0" "50" "16" "69354983" "69354983" "subst" "0" "01804" "VPS4A_000002" "g.69354983C>T" "" "" "" "VPS4A(NM_013245.2):c.881C>T (p.(Pro294Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69321080C>T" "" "VUS" "" "0000667303" "0" "70" "16" "69353408" "69353410" "del" "0" "00006" "VPS4A_000003" "g.69353408_69353410del" "" "{PMID:Hamdan 2015:25356899}" "" "" "" "De novo" "" "" "0" "" "" "g.69319505_69319507del" "" "pathogenic (dominant)" "" "0000704239" "0" "90" "16" "69354671" "69354671" "subst" "0" "00006" "VPS4A_000004" "g.69354671A>T" "" "{PMID:Seu 2020:33186543}, {DOI:Seu 2020:10.1016/j.ajhg.2020.10.013}" "" "" "" "De novo" "" "" "0" "" "" "g.69320768A>T" "" "pathogenic (dominant)" "" "0000704240" "0" "90" "16" "69353434" "69353434" "subst" "0" "00006" "VPS4A_000001" "g.69353434G>A" "" "{PMID:Seu 2020:33186543}, {DOI:Seu 2020:10.1016/j.ajhg.2020.10.013}" "" "" "" "De novo" "" "" "0" "" "" "g.69319531G>A" "" "pathogenic (dominant)" "" "0000704241" "3" "90" "16" "69349972" "69349972" "subst" "0" "00006" "VPS4A_000005" "g.69349972C>T" "" "{PMID:Seu 2020:33186543}, {DOI:Seu 2020:10.1016/j.ajhg.2020.10.013}" "" "" "" "Germline" "" "" "0" "" "" "g.69316069C>T" "" "pathogenic (recessive)" "" "0000704243" "0" "90" "16" "69354671" "69354671" "subst" "0" "00006" "VPS4A_000004" "g.69354671A>T" "" "{PMID:Rodger 2020:33186545}, {DOI:Rodger 2020:10.1016/j.ajhg.2020.10.012}" "" "" "" "De novo" "" "" "0" "" "" "g.69320768A>T" "" "pathogenic (dominant)" "" "0000704244" "0" "90" "16" "69354671" "69354671" "subst" "0" "00006" "VPS4A_000008" "g.69354671A>G" "" "{PMID:Rodger 2020:33186545}, {DOI:Rodger 2020:10.1016/j.ajhg.2020.10.012}" "" "" "" "De novo" "" "" "0" "" "" "g.69320768A>G" "" "pathogenic (dominant)" "" "0000704245" "0" "90" "16" "69354671" "69354671" "subst" "0" "00006" "VPS4A_000004" "g.69354671A>T" "" "{PMID:Rodger 2020:33186545}, {DOI:Rodger 2020:10.1016/j.ajhg.2020.10.012}" "" "" "" "De novo" "" "" "0" "" "" "g.69320768A>T" "" "pathogenic (dominant)" "" "0000704246" "0" "90" "16" "69354671" "69354671" "subst" "0" "00006" "VPS4A_000004" "g.69354671A>T" "" "{PMID:Rodger 2020:33186545}, {DOI:Rodger 2020:10.1016/j.ajhg.2020.10.012}" "" "" "" "De novo" "" "" "0" "" "" "g.69320768A>T" "" "pathogenic (dominant)" "" "0000704247" "0" "90" "16" "69354671" "69354671" "subst" "0" "00006" "VPS4A_000004" "g.69354671A>T" "" "{PMID:Rodger 2020:33186545}, {DOI:Rodger 2020:10.1016/j.ajhg.2020.10.012}" "" "" "" "De novo" "" "" "0" "" "" "g.69320768A>T" "" "pathogenic (dominant)" "" "0000704248" "0" "90" "16" "69353442" "69353442" "subst" "0" "00006" "VPS4A_000006" "g.69353442G>A" "" "{PMID:Rodger 2020:33186545}, {DOI:Rodger 2020:10.1016/j.ajhg.2020.10.012}" "" "" "" "De novo" "" "" "0" "" "" "g.69319539G>A" "" "pathogenic (dominant)" "" "0000704249" "0" "50" "16" "69353328" "69353328" "subst" "0" "00006" "VPS4A_000007" "g.69353328C>T" "" "{PMID:Rodger 2020:33186545}, {DOI:Rodger 2020:10.1016/j.ajhg.2020.10.012}" "" "" "" "Unknown" "" "" "0" "" "" "g.69319425C>T" "" "VUS" "" "0000704250" "0" "50" "16" "69355111" "69355111" "subst" "0" "00006" "VPS4A_000009" "g.69355111A>G" "" "{PMID:Rodger 2020:33186545}, {DOI:Rodger 2020:10.1016/j.ajhg.2020.10.012}" "" "" "" "Unknown" "" "" "0" "" "" "g.69321208A>G" "" "VUS" "" "0000704251" "0" "50" "16" "69355111" "69355111" "subst" "0" "00006" "VPS4A_000009" "g.69355111A>G" "" "{PMID:Rodger 2020:33186545}, {DOI:Rodger 2020:10.1016/j.ajhg.2020.10.012}" "" "" "" "Unknown" "" "" "0" "" "" "g.69321208A>G" "" "VUS" "" "0000704252" "0" "50" "16" "69355111" "69355111" "subst" "0" "00006" "VPS4A_000009" "g.69355111A>G" "" "{PMID:Rodger 2020:33186545}, {DOI:Rodger 2020:10.1016/j.ajhg.2020.10.012}" "" "" "" "Unknown" "" "" "0" "" "" "g.69321208A>G" "" "VUS" "" "0000854602" "0" "50" "16" "69362974" "69362974" "subst" "0" "02325" "COG8_000018" "g.69362974A>G" "" "" "" "COG8(NM_032382.5):c.*135T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914680" "0" "50" "16" "69354121" "69354121" "subst" "0" "02325" "VPS4A_000010" "g.69354121G>T" "" "" "" "VPS4A(NM_013245.3):c.698G>T (p.C233F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930646" "0" "50" "16" "69354193" "69354193" "subst" "0" "02327" "VPS4A_000011" "g.69354193G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002510" "0" "50" "16" "69356530" "69356530" "subst" "4.06233E-6" "01804" "VPS4A_000012" "g.69356530G>C" "" "" "" "VPS4A(NM_013245.2):c.1139G>C (p.(Gly380Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041285" "0" "30" "16" "69352717" "69352717" "subst" "0" "01804" "VPS4A_000013" "g.69352717C>T" "" "" "" "VPS4A(NM_013245.3):c.344-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041286" "0" "30" "16" "69356562" "69356562" "subst" "0.00140142" "01804" "VPS4A_000014" "g.69356562G>A" "" "" "" "VPS4A(NM_013245.3):c.1171G>A (p.(Asp391Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041287" "0" "50" "16" "69363024" "69363024" "subst" "0" "01804" "COG8_000024" "g.69363024G>A" "" "" "" "COG8(NM_001379266.1):c.1472C>T (p.(Ser491Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066523" "0" "50" "16" "69353419" "69353419" "subst" "0" "02325" "VPS4A_000015" "g.69353419T>C" "" "" "" "" "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 VPS4A ## Count = 25 "{{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}}" "0000324850" "00022629" "30" "6049" "0" "6049" "0" "c.*4735T>C" "r.(=)" "p.(=)" "" "0000558886" "00022629" "50" "608" "0" "608" "0" "c.608G>A" "r.(?)" "p.(Gly203Glu)" "" "0000558887" "00022629" "50" "881" "0" "881" "0" "c.881C>T" "r.(?)" "p.(Pro294Leu)" "" "0000667303" "00022629" "70" "582" "0" "584" "0" "c.582_584del" "r.(?)" "p.(Ser195del)" "" "0000704239" "00022629" "90" "850" "0" "850" "0" "c.850A>T" "r.(?)" "p.(Arg284Trp)" "" "0000704240" "00022629" "90" "608" "0" "608" "0" "c.608G>A" "r.(?)" "p.(Gly203Glu)" "" "0000704241" "00022629" "90" "83" "0" "83" "0" "c.83C>T" "r.(?)" "p.(Ala28Val)" "" "0000704243" "00022629" "90" "850" "0" "850" "0" "c.850A>T" "r.(?)" "p.(Arg284Trp)" "" "0000704244" "00022629" "90" "850" "0" "850" "0" "c.850A>G" "r.(?)" "p.(Arg284Gly)" "" "0000704245" "00022629" "90" "850" "0" "850" "0" "c.850A>T" "r.(?)" "p.(Arg284Trp)" "" "0000704246" "00022629" "90" "850" "0" "850" "0" "c.850A>T" "r.(?)" "p.(Arg284Trp)" "" "0000704247" "00022629" "90" "850" "0" "850" "0" "c.850A>T" "r.(?)" "p.(Arg284Trp)" "" "0000704248" "00022629" "90" "616" "0" "616" "0" "c.616G>A" "r.(?)" "p.(Glu206Lys)" "" "0000704249" "00022629" "50" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Pro168Ser)" "" "0000704250" "00022629" "50" "1009" "0" "1009" "0" "c.1009A>G" "r.(?)" "p.(Ile337Val)" "" "0000704251" "00022629" "50" "1009" "0" "1009" "0" "c.1009A>G" "r.(?)" "p.(Ile337Val)" "" "0000704252" "00022629" "50" "1009" "0" "1009" "0" "c.1009A>G" "r.(?)" "p.(Ile337Val)" "" "0000854602" "00022629" "50" "6076" "0" "6076" "0" "c.*4762A>G" "r.(=)" "p.(=)" "" "0000914680" "00022629" "50" "698" "0" "698" "0" "c.698G>T" "r.(?)" "p.(Cys233Phe)" "" "0000930646" "00022629" "50" "769" "1" "769" "1" "c.769+1G>A" "r.spl?" "p.?" "" "0001002510" "00022629" "50" "1139" "0" "1139" "0" "c.1139G>C" "r.(?)" "p.(Gly380Ala)" "" "0001041285" "00022629" "30" "344" "-9" "344" "-9" "c.344-9C>T" "r.(=)" "p.(=)" "" "0001041286" "00022629" "30" "1171" "0" "1171" "0" "c.1171G>A" "r.(?)" "p.(Asp391Asn)" "" "0001041287" "00022629" "50" "6126" "0" "6126" "0" "c.*4812G>A" "r.(=)" "p.(=)" "" "0001066523" "00022629" "50" "593" "0" "593" "0" "c.593T>C" "r.(?)" "p.(Met198Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000303901" "0000667303" "0000321398" "0000704239" "0000321399" "0000704240" "0000321400" "0000704241" "0000321402" "0000704243" "0000321403" "0000704244" "0000321404" "0000704245" "0000321405" "0000704246" "0000321406" "0000704247" "0000321407" "0000704248" "0000321408" "0000704249" "0000321409" "0000704250" "0000321410" "0000704251" "0000321411" "0000704252"