### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZFYVE26) # 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}}" "ZFYVE26" "zinc finger, FYVE domain containing 26" "14" "q23.3" "unknown" "NG_011836.1" "UD_132118461349" "" "https://www.LOVD.nl/ZFYVE26" "" "1" "20761" "23503" "612012" "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/ZFYVE26_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-03-09 11:05:27" "00006" "2026-03-06 17:26:39" ## 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}}" "00023172" "ZFYVE26" "zinc finger, FYVE domain containing 26" "001" "NM_015346.3" "" "NP_056161.2" "" "" "" "-139" "9536" "7620" "68283306" "68213237" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "02077" "SPG15" "paraplegia, spastic, type 15 (SPG-15)" "AR" "270700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05123" "SMA" "atrophy, muscular, spinal (SMA)" "" "" "" "" "" "00006" "2016-01-24 01:41:54" "" "" "05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" "" "07233" "paraplegia" "paraplegia" "" "" "" "" "" "00006" "2026-03-03 14:58:47" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ZFYVE26" "02077" ## Individuals ## Do not remove or alter this header ## ## Count = 22 "{{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}}" "00154961" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00291096" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291097" "" "" "" "23" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291098" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291099" "" "" "" "86" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291101" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304440" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304441" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304442" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00318006" "" "" "" "1" "" "00006" "{PMID:Riazuddin 2017:27457812}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKMR212" "00374538" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2656" "00374882" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1668" "00443411" "" "" "" "4" "" "00006" "{PMID:Saadi 2023:37510308}" "5-generation family, 4 affected (2F, 2M), unaffected heterozygous parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "FamAPatIV2" "00443412" "" "" "00443411" "1" "" "00006" "{PMID:Saadi 2023:37510308}" "sister" "F" "yes" "Pakistan" "" "0" "" "" "" "FamAPatIV3" "00443413" "" "" "00443411" "1" "" "00006" "{PMID:Saadi 2023:37510308}" "nephew" "F" "yes" "Pakistan" "" "0" "" "" "" "FamAPatV1" "00473253" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam113247Pat463" "00473333" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam204650Pat582" "00473340" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam205253Pat594" "00473422" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam209368Pat723" "00473729" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam9605992Pat1169" "00473777" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam9615120Pat1236" "00473807" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam9703763Pat1278" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{individualid}}" "{{diseaseid}}" "00154961" "00198" "00291096" "00198" "00291097" "00198" "00291098" "00198" "00291099" "00198" "00291101" "00198" "00304440" "00198" "00304441" "00198" "00304442" "00198" "00318006" "00139" "00374538" "00198" "00374882" "00198" "00443411" "00198" "00443412" "00198" "00443413" "00198" "00473253" "07233" "00473333" "07233" "00473340" "07233" "00473422" "05123" "00473729" "05356" "00473777" "05356" "00473807" "07233" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 02077, 05123, 05356, 07233 ## 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}}" "0000127693" "00198" "00154961" "01807" "Unknown" "" "HP:0001258 (Spastic paraplegia)" "" "" "" "" "" "" "" "" "" "" "" "0000241790" "00139" "00318006" "00006" "Familial, autosomal recessive" "" "Mild to moderate ID, spasticity, progressive muscular weakness and ID started at 13 years of age." "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000269748" "00198" "00374538" "00006" "Familial, autosomal recessive" "" "Progressive spasticity of lower limbs" "" "" "" "" "" "" "" "" "" "spasticity" "" "0000270092" "00198" "00374882" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "spasticity" "" "0000332752" "00198" "00443411" "00006" "Familial, autosomal recessive" "28y" "no ambulation, intellectual disability, muscle atrophy, dysarthria" "" "" "" "" "" "" "" "" "SPG15" "spastic paraplegia" "" "0000332753" "00198" "00443412" "00006" "Familial, autosomal recessive" "18y" "ataxic gait, intellectual disability, muscle atrophy, dysarthria, hip dysplasia" "" "" "" "" "" "" "" "" "SPG15" "spastic paraplegia" "" "0000332754" "00198" "00443413" "00006" "Familial, autosomal recessive" "15y" "ataxic gait, intellectual disability, muscle atrophy" "" "" "" "" "" "" "" "" "SPG15" "spastic paraplegia" "" "0000358048" "07233" "00473253" "00006" "Familial, autosomal recessive" "26y" "sporadic case, mild motor delay, movement impairment started at age t 13y , climbing and standing difficulty, spastic gait, seizure, learning impairement, mild intellectual disability, bilateral shortening Aschilles tendons (released by surgery ), mild brain atrophy and mild periventricular hyper signal reported in brain MRI, neurogenic pattern in favor of anterior horn disease reported in NCV, normal WBC count (normal neutrophil 43%)." "" "" "" "" "" "" "" "" "" "hereditary paraplegia" "" "0000358128" "07233" "00473333" "00006" "Familial, autosomal recessive" "29y" "psychomotor delay, spastic gait , pes cavus, bulbar dysfunction, lower muscle spasticity , cramp and mild weakness , foot drop , running difficulty, normal CPK and normal EMG." "" "" "" "" "" "" "" "" "" "hereditary paraplegia" "" "0000358135" "07233" "00473340" "00006" "Unknown" "19y" "spastic gait, foot drop, corpus callosum hypoplasia, lower limb spasticity, mild muscle weakness, increased DTR, mild cognitive deficit and chronic inactive anterior horn cell disorder reported in EMG/NCV" "" "" "" "" "" "" "" "" "" "hereditary paraplegia" "" "0000358217" "05123" "00473422" "00006" "Familial, autosomal recessive" "23y" "sporadic case, age 23y old, started 5y with distal muscle weakness, gait difficulty , distal spasticity in toes , tremor , anterior horn cell disease reported in EDX" "" "" "" "" "" "" "" "" "" "spinal myscular atrophy" "" "0000358524" "05356" "00473729" "00006" "Familial, autosomal recessive" "24y" "Speech difficulty; Mental deterioration; Muscle weakness & wasting, legs>arms; Tremor in hands; Spastic quadriparesis; Inability to walk since 2y; Abnormal findings in CT angiography of thoracic aorta; EMG-NCV: chronic axonal length dependent sensorimotor polyneuropathy with ongoing denervation" "" "" "" "" "" "" "" "" "" "hereditary ataxia" "" "0000358572" "05356" "00473777" "00006" "Familial, autosomal recessive" "25y" "Muscle weakness, lower>>upper limbs; Hyperpigmentation, patch, back of neck & arms; Ataxia; Age of onset:20y/o; Frequent fallings; Dysarthria; HT:156; WT:73; EMG-NCV:suggestive of motor neuron dis" "" "" "" "" "" "" "" "" "" "hereditary ataxia" "" "0000358602" "07233" "00473807" "00006" "Familial, autosomal recessive" "20y" "Lower limb spasticity; Lower limb weakness; Mild pes cavus; Spastic gait; Muscle spasm; Brain MRI: suggestive of diffused axonal injury and mild atrophic changes in corpus callosum." "" "" "" "" "" "" "" "" "" "hereditary paraplegia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 22 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000155823" "00154961" "0" "01807" "01807" "2018-03-07 04:00:33" "" "" "SEQ" "DNA" "" "" "0000292264" "00291096" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292265" "00291097" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292266" "00291098" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292267" "00291099" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292269" "00291101" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305569" "00304440" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305570" "00304441" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305571" "00304442" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000319188" "00318006" "1" "00006" "00006" "2020-11-05 17:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000375732" "00374538" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376076" "00374882" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000444900" "00443411" "1" "00006" "00006" "2023-11-26 13:31:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444901" "00443412" "1" "00006" "00006" "2023-11-26 13:31:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444902" "00443413" "1" "00006" "00006" "2023-11-26 13:31:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474922" "00473253" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475002" "00473333" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475009" "00473340" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475091" "00473422" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475398" "00473729" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475446" "00473777" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475476" "00473807" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000319188" "ZFYVE26" "0000375732" "ZFYVE26" "0000376076" "ZFYVE26" ## 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 = 214 "{{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}}" "0000254274" "0" "30" "14" "68252919" "68252919" "subst" "0.000698517" "01943" "ZFYVE26_000024" "g.68252919A>G" "" "" "" "ZFYVE26(NM_015346.3):c.3051T>C (p.A1017=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67786202A>G" "" "likely benign" "" "0000254453" "0" "30" "14" "68244858" "68244858" "subst" "0" "01943" "ZFYVE26_000016" "g.68244858A>G" "" "" "" "ZFYVE26(NM_015346.3):c.4782T>C (p.H1594=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67778141A>G" "" "likely benign" "" "0000313139" "0" "90" "14" "68260934" "68260934" "del" "0" "02325" "ZFYVE26_000029" "g.68260934del" "" "" "" "ZFYVE26(NM_015346.4):c.2357delC (p.P786Hfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67794217del" "" "pathogenic" "" "0000313140" "0" "10" "14" "68249499" "68249499" "subst" "0.261912" "02325" "ZFYVE26_000018" "g.68249499C>T" "" "" "" "ZFYVE26(NM_015346.4):c.4370G>A (p.C1457Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67782782C>T" "" "benign" "" "0000313141" "0" "30" "14" "68244396" "68244396" "subst" "0.00246481" "02325" "ZFYVE26_000015" "g.68244396G>A" "" "" "" "ZFYVE26(NM_015346.3):c.4854C>T (p.L1618=), ZFYVE26(NM_015346.4):c.4854C>T (p.(Leu1618=), p.L1618=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67777679G>A" "" "likely benign" "" "0000313142" "0" "10" "14" "68236522" "68236522" "subst" "0" "02325" "ZFYVE26_000012" "g.68236522G>A" "" "" "" "ZFYVE26(NM_015346.4):c.5485-75C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67769805G>A" "" "benign" "" "0000313143" "0" "10" "14" "68234539" "68234539" "subst" "0.955064" "02325" "ZFYVE26_000011" "g.68234539T>C" "" "" "" "ZFYVE26(NM_015346.4):c.5672A>G (p.N1891S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67767822T>C" "" "benign" "" "0000315537" "0" "90" "14" "68271944" "68271944" "subst" "0" "02326" "ZFYVE26_000031" "g.68271944G>A" "" "" "" "ZFYVE26(NM_015346.3):c.1261C>T (p.Q421*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67805227G>A" "" "pathogenic" "" "0000315538" "0" "10" "14" "68256245" "68256245" "subst" "0.00836829" "02326" "ZFYVE26_000027" "g.68256245C>T" "" "" "" "ZFYVE26(NM_015346.3):c.2826G>A (p.M942I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67789528C>T" "" "benign" "" "0000315539" "0" "10" "14" "68256184" "68256184" "subst" "0.00770251" "02326" "ZFYVE26_000025" "g.68256184C>G" "" "" "" "ZFYVE26(NM_015346.3):c.2887G>C (p.(Val963Leu), p.V963L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67789467C>G" "" "benign" "" "0000315540" "0" "90" "14" "68252830" "68252830" "subst" "3.24897E-5" "02326" "ZFYVE26_000023" "g.68252830C>T" "" "" "" "ZFYVE26(NM_015346.3):c.3139+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67786113C>T" "" "pathogenic" "" "0000315541" "0" "30" "14" "68219200" "68219200" "subst" "0.0304556" "02326" "ZFYVE26_000003" "g.68219200C>T" "" "" "" "ZFYVE26(NM_015346.3):c.7232G>A (p.R2411H), ZFYVE26(NM_015346.4):c.7232G>A (p.(Arg2411His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67752483C>T" "" "likely benign" "" "0000320165" "0" "50" "14" "68272021" "68272021" "subst" "0.00347685" "01943" "ZFYVE26_000032" "g.68272021C>A" "" "" "" "ZFYVE26(NM_015346.3):c.1184G>T (p.G395V, p.(Gly395Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67805304C>A" "" "VUS" "" "0000320166" "0" "30" "14" "68265046" "68265046" "subst" "0.00536149" "01943" "ZFYVE26_000030" "g.68265046T>C" "" "" "" "ZFYVE26(NM_015346.3):c.1933A>G (p.M645V, p.(Met645Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67798329T>C" "" "likely benign" "" "0000320167" "0" "50" "14" "68257459" "68257459" "subst" "0.000150268" "01943" "ZFYVE26_000028" "g.68257459G>C" "" "" "" "ZFYVE26(NM_015346.3):c.2585C>G (p.P862R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67790742G>C" "" "VUS" "" "0000320168" "0" "30" "14" "68256218" "68256218" "subst" "6.11112E-5" "01943" "ZFYVE26_000026" "g.68256218C>T" "" "" "" "ZFYVE26(NM_015346.3):c.2853G>A (p.T951=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67789501C>T" "" "likely benign" "" "0000320169" "0" "30" "14" "68250147" "68250147" "subst" "0.00314407" "01943" "ZFYVE26_000022" "g.68250147C>T" "" "" "" "ZFYVE26(NM_015346.3):c.3722G>A (p.R1241Q, p.(Arg1241Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67783430C>T" "" "likely benign" "" "0000320170" "0" "30" "14" "68249672" "68249672" "subst" "0.00225891" "01943" "ZFYVE26_000021" "g.68249672G>A" "" "" "" "ZFYVE26(NM_015346.3):c.4197C>T (p.T1399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67782955G>A" "" "likely benign" "" "0000320171" "0" "50" "14" "68249560" "68249560" "subst" "1.21884E-5" "01943" "ZFYVE26_000019" "g.68249560C>T" "" "" "" "ZFYVE26(NM_015346.3):c.4309G>A (p.G1437R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67782843C>T" "" "VUS" "" "0000320172" "0" "30" "14" "68244906" "68244906" "subst" "0.000982845" "01943" "ZFYVE26_000017" "g.68244906G>A" "" "" "" "ZFYVE26(NM_015346.3):c.4734C>T (p.I1578=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67778189G>A" "" "likely benign" "" "0000320173" "0" "30" "14" "68244396" "68244396" "subst" "0.00246481" "01943" "ZFYVE26_000015" "g.68244396G>A" "" "" "" "ZFYVE26(NM_015346.3):c.4854C>T (p.L1618=), ZFYVE26(NM_015346.4):c.4854C>T (p.(Leu1618=), p.L1618=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67777679G>A" "" "likely benign" "" "0000320174" "0" "50" "14" "68242582" "68242582" "subst" "0.000349483" "01943" "ZFYVE26_000014" "g.68242582C>A" "" "" "" "ZFYVE26(NM_015346.3):c.5216G>T (p.R1739L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67775865C>A" "" "VUS" "" "0000320175" "0" "30" "14" "68241793" "68241793" "subst" "0.000382493" "01943" "ZFYVE26_000013" "g.68241793C>T" "" "" "" "ZFYVE26(NM_015346.3):c.5260G>A (p.A1754T, p.(Ala1754Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67775076C>T" "" "likely benign" "" "0000320176" "0" "50" "14" "68234444" "68234444" "subst" "3.65619E-5" "01943" "ZFYVE26_000010" "g.68234444G>A" "" "" "" "ZFYVE26(NM_015346.3):c.5767C>T (p.R1923W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67767727G>A" "" "VUS" "" "0000320177" "0" "30" "14" "68274408" "68274408" "subst" "2.8462E-5" "01943" "ZFYVE26_000035" "g.68274408C>T" "" "" "" "ZFYVE26(NM_015346.3):c.593G>A (p.R198Q), ZFYVE26(NM_015346.4):c.593G>A (p.(Arg198Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67807691C>T" "" "likely benign" "" "0000320178" "0" "50" "14" "68229394" "68229394" "subst" "0.000203262" "01943" "ZFYVE26_000009" "g.68229394C>T" "" "" "" "ZFYVE26(NM_015346.3):c.6154G>A (p.V2052I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67762677C>T" "" "VUS" "" "0000320179" "0" "30" "14" "68229100" "68229100" "subst" "2.85105E-5" "01943" "ZFYVE26_000008" "g.68229100G>A" "" "" "" "ZFYVE26(NM_015346.3):c.6189C>T (p.T2063=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67762383G>A" "" "likely benign" "" "0000320180" "0" "50" "14" "68222822" "68222822" "subst" "8.12242E-6" "01943" "ZFYVE26_000007" "g.68222822G>C" "" "" "" "ZFYVE26(NM_015346.3):c.6629C>G (p.P2210R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67756105G>C" "" "VUS" "" "0000320181" "0" "10" "14" "68221935" "68221935" "subst" "0.000832765" "01943" "ZFYVE26_000006" "g.68221935C>T" "" "" "" "ZFYVE26(NM_015346.3):c.6819G>A (p.R2273=), ZFYVE26(NM_015346.4):c.6819G>A (p.(Arg2273=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67755218C>T" "" "benign" "" "0000320182" "0" "30" "14" "68221905" "68221905" "subst" "0.000613253" "01943" "ZFYVE26_000005" "g.68221905T>C" "" "" "" "ZFYVE26(NM_015346.3):c.6849A>G (p.T2283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67755188T>C" "" "likely benign" "" "0000320183" "0" "30" "14" "68220861" "68220861" "subst" "0.00301334" "01943" "ZFYVE26_000004" "g.68220861G>A" "" "" "" "ZFYVE26(NM_015346.3):c.7055C>T (p.T2352I), ZFYVE26(NM_015346.4):c.7055C>T (p.(Thr2352Ile), p.T2352I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67754144G>A" "" "likely benign" "" "0000320184" "0" "50" "14" "68219058" "68219058" "subst" "2.97086E-5" "01943" "ZFYVE26_000002" "g.68219058T>C" "" "" "" "ZFYVE26(NM_015346.3):c.7371+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67752341T>C" "" "VUS" "" "0000320185" "0" "10" "14" "68274253" "68274253" "subst" "0.00199111" "01943" "ZFYVE26_000034" "g.68274253C>T" "" "" "" "ZFYVE26(NM_015346.3):c.748G>A (p.E250K, p.(Glu250Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67807536C>T" "" "benign" "" "0000320186" "0" "30" "14" "68215240" "68215240" "subst" "0.00123502" "01943" "ZFYVE26_000001" "g.68215240G>A" "" "" "" "ZFYVE26(NM_015346.3):c.7533C>T (p.S2511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67748523G>A" "" "likely benign" "" "0000320187" "0" "30" "14" "68273292" "68273292" "subst" "7.30935E-5" "01943" "ZFYVE26_000033" "g.68273292G>A" "" "" "" "ZFYVE26(NM_015346.3):c.987C>T (p.S329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67806575G>A" "" "likely benign" "" "0000323737" "0" "50" "14" "68249576" "68249576" "subst" "0.000129995" "01804" "ZFYVE26_000020" "g.68249576C>G" "" "" "" "ZFYVE26(NM_015346.3):c.4293G>C (p.Q1431H, p.(Gln1431His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67782859C>G" "" "VUS" "" "0000323738" "0" "50" "14" "68275919" "68275919" "subst" "0.000121882" "01804" "ZFYVE26_000036" "g.68275919C>T" "" "" "" "ZFYVE26(NM_015346.3):c.361G>A (p.E121K, p.(Glu121Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67809202C>T" "" "VUS" "" "0000338618" "0" "10" "14" "68220932" "68220932" "subst" "0.0067847" "02327" "ZFYVE26_000038" "g.68220932G>A" "" "" "" "ZFYVE26(NM_015346.3):c.6987-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67754215G>A" "" "benign" "" "0000338619" "0" "10" "14" "68260877" "68260877" "subst" "0.00228618" "02327" "ZFYVE26_000053" "g.68260877A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67794160A>T" "" "benign" "" "0000338620" "0" "10" "14" "68282750" "68282750" "subst" "0" "02327" "ZFYVE26_000057" "g.68282750T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67816033T>A" "" "benign" "" "0000340377" "0" "50" "14" "68220875" "68220875" "subst" "0.000117784" "02327" "ZFYVE26_000037" "g.68220875G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67754158G>A" "" "VUS" "" "0000340378" "0" "30" "14" "68228266" "68228266" "subst" "0.0057618" "02327" "ZFYVE26_000039" "g.68228266C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67761549C>T" "" "likely benign" "" "0000340379" "0" "30" "14" "68244906" "68244906" "subst" "0.000982845" "02327" "ZFYVE26_000017" "g.68244906G>A" "" "" "" "ZFYVE26(NM_015346.3):c.4734C>T (p.I1578=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67778189G>A" "" "likely benign" "" "0000340380" "0" "10" "14" "68250112" "68250112" "subst" "0.0123927" "02327" "ZFYVE26_000045" "g.68250112G>A" "" "" "" "ZFYVE26(NM_015346.4):c.3757C>T (p.(Leu1253=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67783395G>A" "" "benign" "" "0000340381" "0" "10" "14" "68252669" "68252669" "subst" "0.0242956" "02327" "ZFYVE26_000048" "g.68252669G>C" "" "" "" "ZFYVE26(NM_015346.4):c.3210C>G (p.(Pro1070=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67785952G>C" "" "benign" "" "0000340382" "0" "10" "14" "68257485" "68257485" "subst" "0.145356" "02327" "ZFYVE26_000051" "g.68257485C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67790768C>T" "" "benign" "" "0000340383" "0" "10" "14" "68264867" "68264867" "subst" "0.715607" "02327" "ZFYVE26_000054" "g.68264867A>G" "" "" "" "ZFYVE26(NM_015346.4):c.2112T>C (p.P704=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67798150A>G" "" "benign" "" "0000341120" "0" "10" "14" "68251934" "68251934" "subst" "0.0243057" "02327" "ZFYVE26_000046" "g.68251934G>A" "" "" "" "ZFYVE26(NM_015346.3):c.3365C>T (p.(Ala1122Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67785217G>A" "" "benign" "" "0000341275" "0" "50" "14" "68274339" "68274339" "subst" "8.12803E-6" "02327" "ZFYVE26_000056" "g.68274339G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67807622G>C" "" "VUS" "" "0000341812" "0" "30" "14" "68250147" "68250147" "subst" "0.00314407" "02327" "ZFYVE26_000022" "g.68250147C>T" "" "" "" "ZFYVE26(NM_015346.3):c.3722G>A (p.R1241Q, p.(Arg1241Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67783430C>T" "" "likely benign" "" "0000342378" "0" "30" "14" "68219200" "68219200" "subst" "0.0304556" "02327" "ZFYVE26_000003" "g.68219200C>T" "" "" "" "ZFYVE26(NM_015346.3):c.7232G>A (p.R2411H), ZFYVE26(NM_015346.4):c.7232G>A (p.(Arg2411His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67752483C>T" "" "likely benign" "" "0000343634" "0" "10" "14" "68234539" "68234539" "subst" "0.955064" "02327" "ZFYVE26_000011" "g.68234539T>C" "" "" "" "ZFYVE26(NM_015346.4):c.5672A>G (p.N1891S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67767822T>C" "" "benign" "" "0000344276" "0" "10" "14" "68249499" "68249499" "subst" "0.261912" "02327" "ZFYVE26_000018" "g.68249499C>T" "" "" "" "ZFYVE26(NM_015346.4):c.4370G>A (p.C1457Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67782782C>T" "" "benign" "" "0000344292" "0" "30" "14" "68236320" "68236320" "subst" "0.00996599" "02327" "ZFYVE26_000042" "g.68236320C>T" "" "" "" "ZFYVE26(NM_015346.3):c.5612G>A (p.(Cys1871Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67769603C>T" "" "likely benign" "" "0000344556" "0" "50" "14" "68249576" "68249576" "subst" "0.000129995" "02327" "ZFYVE26_000020" "g.68249576C>G" "" "" "" "ZFYVE26(NM_015346.3):c.4293G>C (p.Q1431H, p.(Gln1431His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67782859C>G" "" "VUS" "" "0000347907" "0" "50" "14" "68260392" "68260392" "subst" "0" "02327" "ZFYVE26_000052" "g.68260392A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67793675A>G" "" "VUS" "" "0000347914" "0" "10" "14" "68256245" "68256245" "subst" "0.00836829" "02327" "ZFYVE26_000027" "g.68256245C>T" "" "" "" "ZFYVE26(NM_015346.3):c.2826G>A (p.M942I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67789528C>T" "" "benign" "" "0000348135" "0" "10" "14" "68251991" "68251991" "subst" "0.030049" "02327" "ZFYVE26_000047" "g.68251991G>A" "" "" "" "ZFYVE26(NM_015346.3):c.3308C>T (p.(Pro1103Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67785274G>A" "" "benign" "" "0000348641" "0" "10" "14" "68252852" "68252852" "subst" "0.0495208" "02327" "ZFYVE26_000049" "g.68252852A>T" "" "" "" "ZFYVE26(NM_015346.3):c.3118T>A (p.S1040T), ZFYVE26(NM_015346.4):c.3118T>A (p.(Ser1040Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67786135A>T" "" "benign" "" "0000349121" "0" "30" "14" "68265135" "68265135" "subst" "0.00922772" "02327" "ZFYVE26_000055" "g.68265135G>A" "" "" "" "ZFYVE26(NM_015346.3):c.1844C>T (p.(Ser615Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67798418G>A" "" "likely benign" "" "0000349651" "0" "10" "14" "68257352" "68257352" "subst" "0.0922728" "02327" "ZFYVE26_000050" "g.68257352T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67790635T>A" "" "benign" "" "0000350300" "0" "50" "14" "68248217" "68248217" "subst" "4.07388E-5" "02327" "ZFYVE26_000044" "g.68248217C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67781500C>T" "" "VUS" "" "0000350696" "0" "30" "14" "68256184" "68256184" "subst" "0.00770251" "02327" "ZFYVE26_000025" "g.68256184C>G" "" "" "" "ZFYVE26(NM_015346.3):c.2887G>C (p.(Val963Leu), p.V963L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67789467C>G" "" "likely benign" "" "0000356904" "3" "90" "14" "68264458" "68264458" "subst" "0" "01807" "ZFYVE26_000037" "g.68264458G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.67797741G>A" "" "pathogenic" "" "0000552879" "0" "10" "14" "68215187" "68215187" "subst" "0.00115435" "01943" "ZFYVE26_000058" "g.68215187G>C" "" "" "" "ZFYVE26(NM_015346.3):c.7586C>G (p.P2529R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67748470G>C" "" "benign" "" "0000552880" "0" "30" "14" "68215361" "68215361" "subst" "0.00568556" "01804" "ZFYVE26_000059" "g.68215361C>G" "" "" "" "ZFYVE26(NM_015346.4):c.7417-5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67748644C>G" "" "likely benign" "" "0000552881" "0" "30" "14" "68219078" "68219078" "subst" "0" "01943" "ZFYVE26_000060" "g.68219078T>C" "" "" "" "ZFYVE26(NM_015346.3):c.7354A>G (p.K2452E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67752361T>C" "" "likely benign" "" "0000552882" "0" "30" "14" "68219126" "68219126" "subst" "0" "01804" "ZFYVE26_000061" "g.68219126C>T" "" "" "" "ZFYVE26(NM_015346.3):c.7306G>A (p.(Ala2436Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67752409C>T" "" "likely benign" "" "0000552883" "0" "10" "14" "68219200" "68219200" "subst" "0.0304556" "01804" "ZFYVE26_000003" "g.68219200C>T" "" "" "" "ZFYVE26(NM_015346.3):c.7232G>A (p.R2411H), ZFYVE26(NM_015346.4):c.7232G>A (p.(Arg2411His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67752483C>T" "" "benign" "" "0000552884" "0" "30" "14" "68220784" "68220784" "subst" "6.90726E-5" "01943" "ZFYVE26_000062" "g.68220784G>A" "" "" "" "ZFYVE26(NM_015346.3):c.7128+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67754067G>A" "" "likely benign" "" "0000552885" "0" "30" "14" "68220861" "68220861" "subst" "0.00301334" "02325" "ZFYVE26_000004" "g.68220861G>A" "" "" "" "ZFYVE26(NM_015346.3):c.7055C>T (p.T2352I), ZFYVE26(NM_015346.4):c.7055C>T (p.(Thr2352Ile), p.T2352I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67754144G>A" "" "likely benign" "" "0000552886" "0" "30" "14" "68220932" "68220932" "subst" "0.0067847" "01804" "ZFYVE26_000038" "g.68220932G>A" "" "" "" "ZFYVE26(NM_015346.3):c.6987-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67754215G>A" "" "likely benign" "" "0000552887" "0" "30" "14" "68221965" "68221965" "subst" "4.87535E-5" "01943" "ZFYVE26_000063" "g.68221965G>A" "" "" "" "ZFYVE26(NM_015346.3):c.6789C>T (p.D2263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67755248G>A" "" "likely benign" "" "0000552888" "0" "30" "14" "68228164" "68228164" "subst" "6.9063E-5" "01943" "ZFYVE26_000064" "g.68228164G>A" "" "" "" "ZFYVE26(NM_015346.3):c.6507C>T (p.N2169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67761447G>A" "" "likely benign" "" "0000552890" "0" "30" "14" "68229061" "68229061" "subst" "4.06659E-6" "01943" "ZFYVE26_000066" "g.68229061G>A" "" "" "" "ZFYVE26(NM_015346.3):c.6228C>T (p.A2076=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67762344G>A" "" "likely benign" "" "0000552891" "0" "30" "14" "68229462" "68229462" "subst" "0.00134894" "01943" "ZFYVE26_000067" "g.68229462A>G" "" "" "" "ZFYVE26(NM_015346.3):c.6086T>C (p.I2029T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67762745A>G" "" "likely benign" "" "0000552892" "0" "30" "14" "68236320" "68236320" "subst" "0.00996599" "01804" "ZFYVE26_000042" "g.68236320C>T" "" "" "" "ZFYVE26(NM_015346.3):c.5612G>A (p.(Cys1871Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67769603C>T" "" "likely benign" "" "0000552893" "0" "30" "14" "68238751" "68238751" "subst" "0.00296756" "02326" "ZFYVE26_000068" "g.68238751C>T" "" "" "" "ZFYVE26(NM_015346.3):c.5484+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67772034C>T" "" "likely benign" "" "0000552894" "0" "30" "14" "68238776" "68238776" "subst" "0" "01943" "ZFYVE26_000069" "g.68238776C>T" "" "" "" "ZFYVE26(NM_015346.3):c.5472G>A (p.E1824=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67772059C>T" "" "likely benign" "" "0000552896" "0" "10" "14" "68249605" "68249605" "subst" "0.000613382" "01943" "ZFYVE26_000071" "g.68249605C>T" "" "" "" "ZFYVE26(NM_015346.3):c.4264G>A (p.V1422M, p.(Val1422Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67782888C>T" "" "benign" "" "0000552897" "0" "30" "14" "68249803" "68249803" "subst" "0.00190291" "01943" "ZFYVE26_000072" "g.68249803A>C" "" "" "" "ZFYVE26(NM_015346.3):c.4066T>G (p.C1356G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67783086A>C" "" "likely benign" "" "0000552899" "0" "30" "14" "68249899" "68249899" "subst" "0.000143745" "01943" "ZFYVE26_000074" "g.68249899A>T" "" "" "" "ZFYVE26(NM_015346.3):c.3970T>A (p.S1324T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67783182A>T" "" "likely benign" "" "0000552900" "0" "30" "14" "68250147" "68250147" "subst" "0.00314407" "01804" "ZFYVE26_000022" "g.68250147C>T" "" "" "" "ZFYVE26(NM_015346.3):c.3722G>A (p.R1241Q, p.(Arg1241Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67783430C>T" "" "likely benign" "" "0000552901" "0" "30" "14" "68251829" "68251829" "subst" "0" "01804" "ZFYVE26_000075" "g.68251829C>G" "" "" "" "ZFYVE26(NM_015346.3):c.3470G>C (p.(Ser1157Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67785112C>G" "" "likely benign" "" "0000552902" "0" "30" "14" "68251934" "68251934" "subst" "0.0243057" "01804" "ZFYVE26_000046" "g.68251934G>A" "" "" "" "ZFYVE26(NM_015346.3):c.3365C>T (p.(Ala1122Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67785217G>A" "" "likely benign" "" "0000552903" "0" "30" "14" "68251991" "68251991" "subst" "0.030049" "01804" "ZFYVE26_000047" "g.68251991G>A" "" "" "" "ZFYVE26(NM_015346.3):c.3308C>T (p.(Pro1103Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67785274G>A" "" "likely benign" "" "0000552904" "0" "30" "14" "68252643" "68252643" "subst" "0" "01943" "ZFYVE26_000076" "g.68252643C>T" "" "" "" "ZFYVE26(NM_015346.3):c.3236G>A (p.S1079N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67785926C>T" "" "likely benign" "" "0000552905" "0" "30" "14" "68252669" "68252669" "subst" "0.00481769" "01943" "ZFYVE26_000077" "g.68252669G>A" "" "" "" "ZFYVE26(NM_015346.3):c.3210C>T (p.P1070=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67785952G>A" "" "likely benign" "" "0000552906" "0" "10" "14" "68252852" "68252852" "subst" "0.0495208" "01943" "ZFYVE26_000049" "g.68252852A>T" "" "" "" "ZFYVE26(NM_015346.3):c.3118T>A (p.S1040T), ZFYVE26(NM_015346.4):c.3118T>A (p.(Ser1040Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67786135A>T" "" "benign" "" "0000552907" "0" "10" "14" "68252852" "68252852" "subst" "0.0495208" "01804" "ZFYVE26_000049" "g.68252852A>T" "" "" "" "ZFYVE26(NM_015346.3):c.3118T>A (p.S1040T), ZFYVE26(NM_015346.4):c.3118T>A (p.(Ser1040Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67786135A>T" "" "benign" "" "0000552908" "0" "10" "14" "68252852" "68252852" "subst" "0.0495208" "02326" "ZFYVE26_000049" "g.68252852A>T" "" "" "" "ZFYVE26(NM_015346.3):c.3118T>A (p.S1040T), ZFYVE26(NM_015346.4):c.3118T>A (p.(Ser1040Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67786135A>T" "" "benign" "" "0000552909" "0" "30" "14" "68252858" "68252858" "subst" "0" "01943" "ZFYVE26_000078" "g.68252858G>A" "" "" "" "ZFYVE26(NM_015346.3):c.3112C>T (p.L1038F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67786141G>A" "" "likely benign" "" "0000552910" "0" "50" "14" "68252945" "68252945" "subst" "1.7367E-5" "01943" "ZFYVE26_000079" "g.68252945G>C" "" "" "" "ZFYVE26(NM_015346.3):c.3025C>G (p.R1009G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67786228G>C" "" "VUS" "" "0000552911" "0" "50" "14" "68256237" "68256237" "subst" "0" "01804" "ZFYVE26_000080" "g.68256237T>A" "" "" "" "ZFYVE26(NM_015346.3):c.2834A>T (p.(Glu945Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67789520T>A" "" "VUS" "" "0000552912" "0" "30" "14" "68264382" "68264382" "del" "0.0165883" "01804" "ZFYVE26_000081" "g.68264382del" "" "" "" "ZFYVE26(NM_015346.3):c.2332+7del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67797665del" "" "likely benign" "" "0000552913" "0" "10" "14" "68264867" "68264867" "subst" "0.715607" "02325" "ZFYVE26_000054" "g.68264867A>G" "" "" "" "ZFYVE26(NM_015346.4):c.2112T>C (p.P704=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67798150A>G" "" "benign" "" "0000552914" "0" "30" "14" "68264912" "68264912" "subst" "0.00233493" "01943" "ZFYVE26_000082" "g.68264912G>A" "" "" "" "ZFYVE26(NM_015346.3):c.2067C>T (p.L689=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67798195G>A" "" "likely benign" "" "0000552915" "0" "90" "14" "68264950" "68264950" "del" "0" "01943" "ZFYVE26_000083" "g.68264950del" "" "" "" "ZFYVE26(NM_015346.3):c.2030delG (p.G677Dfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67798233del" "" "pathogenic" "" "0000552916" "0" "30" "14" "68265135" "68265135" "subst" "0.00922772" "01804" "ZFYVE26_000055" "g.68265135G>A" "" "" "" "ZFYVE26(NM_015346.3):c.1844C>T (p.(Ser615Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67798418G>A" "" "likely benign" "" "0000552917" "0" "90" "14" "68270912" "68270913" "del" "0" "01943" "ZFYVE26_000084" "g.68270912_68270913del" "" "" "" "ZFYVE26(NM_015346.3):c.1343_1344delTC (p.L448Pfs*31)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67804195_67804196del" "" "pathogenic" "" "0000552918" "0" "30" "14" "68272021" "68272021" "subst" "0.00347685" "01804" "ZFYVE26_000032" "g.68272021C>A" "" "" "" "ZFYVE26(NM_015346.3):c.1184G>T (p.G395V, p.(Gly395Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67805304C>A" "" "likely benign" "" "0000552919" "0" "30" "14" "68272175" "68272175" "subst" "8.12236E-6" "01943" "ZFYVE26_000085" "g.68272175G>T" "" "" "" "ZFYVE26(NM_015346.3):c.1178C>A (p.T393N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67805458G>T" "" "likely benign" "" "0000552920" "0" "30" "14" "68274253" "68274253" "subst" "0.00199111" "01804" "ZFYVE26_000034" "g.68274253C>T" "" "" "" "ZFYVE26(NM_015346.3):c.748G>A (p.E250K, p.(Glu250Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67807536C>T" "" "likely benign" "" "0000552921" "0" "30" "14" "68274324" "68274324" "subst" "0.00170255" "01943" "ZFYVE26_000086" "g.68274324C>T" "" "" "" "ZFYVE26(NM_015346.3):c.677G>A (p.R226H), ZFYVE26(NM_015346.4):c.677G>A (p.(Arg226His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67807607C>T" "" "likely benign" "" "0000552922" "0" "30" "14" "68274324" "68274324" "subst" "0.00170255" "01804" "ZFYVE26_000086" "g.68274324C>T" "" "" "" "ZFYVE26(NM_015346.3):c.677G>A (p.R226H), ZFYVE26(NM_015346.4):c.677G>A (p.(Arg226His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67807607C>T" "" "likely benign" "" "0000552923" "0" "30" "14" "68274396" "68274396" "subst" "4.47318E-5" "01943" "ZFYVE26_000087" "g.68274396C>T" "" "" "" "ZFYVE26(NM_015346.3):c.605G>A (p.R202Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67807679C>T" "" "likely benign" "" "0000552925" "0" "30" "14" "68282675" "68282675" "subst" "9.61169E-5" "01943" "RAD51B_000007" "g.68282675A>T" "" "" "" "ZFYVE26(NM_015346.3):c.6T>A (p.N2K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67815958A>T" "" "likely benign" "" "0000615050" "0" "30" "14" "68241793" "68241793" "subst" "0.000382493" "01804" "ZFYVE26_000013" "g.68241793C>T" "" "" "" "ZFYVE26(NM_015346.3):c.5260G>A (p.A1754T, p.(Ala1754Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67775076C>T" "" "likely benign" "" "0000615051" "0" "30" "14" "68241793" "68241793" "subst" "0.000382493" "02326" "ZFYVE26_000013" "g.68241793C>T" "" "" "" "ZFYVE26(NM_015346.3):c.5260G>A (p.A1754T, p.(Ala1754Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67775076C>T" "" "likely benign" "" "0000615052" "0" "30" "14" "68249576" "68249576" "subst" "0.000129995" "01943" "ZFYVE26_000020" "g.68249576C>G" "" "" "" "ZFYVE26(NM_015346.3):c.4293G>C (p.Q1431H, p.(Gln1431His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67782859C>G" "" "likely benign" "" "0000615053" "0" "30" "14" "68249919" "68249919" "subst" "0.000150826" "01943" "ZFYVE26_000088" "g.68249919G>A" "" "" "" "ZFYVE26(NM_015346.3):c.3950C>T (p.T1317M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67783202G>A" "" "likely benign" "" "0000615054" "0" "30" "14" "68250136" "68250136" "subst" "0" "01943" "ZFYVE26_000089" "g.68250136G>T" "" "" "" "ZFYVE26(NM_015346.3):c.3733C>A (p.Q1245K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67783419G>T" "" "likely benign" "" "0000615055" "0" "30" "14" "68250188" "68250188" "subst" "8.14777E-6" "01943" "ZFYVE26_000090" "g.68250188G>A" "" "" "" "ZFYVE26(NM_015346.3):c.3681C>T (p.I1227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67783471G>A" "" "likely benign" "" "0000615056" "0" "50" "14" "68252939" "68252939" "subst" "0" "01943" "ZFYVE26_000092" "g.68252939C>T" "" "" "" "ZFYVE26(NM_015346.3):c.3031G>A (p.D1011N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67786222C>T" "" "VUS" "" "0000615057" "0" "50" "14" "68260455" "68260455" "subst" "2.84812E-5" "01943" "ZFYVE26_000093" "g.68260455G>C" "" "" "" "ZFYVE26(NM_015346.3):c.2423C>G (p.S808C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67793738G>C" "" "VUS" "" "0000615058" "0" "30" "14" "68265066" "68265066" "subst" "0" "01943" "ZFYVE26_000094" "g.68265066G>C" "" "" "" "ZFYVE26(NM_015346.3):c.1913C>G (p.P638R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67798349G>C" "" "likely benign" "" "0000623157" "0" "30" "14" "68252898" "68252898" "subst" "4.06124E-6" "01943" "ZFYVE26_000091" "g.68252898T>C" "" "" "" "ZFYVE26(NM_015346.3):c.3072A>G (p.P1024=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67786181T>C" "" "likely benign" "" "0000648953" "1" "50" "14" "68220861" "68220861" "subst" "0.00301334" "03575" "ZFYVE26_000004" "g.68220861G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; {DB:CLININrs151166497}" "Germline" "" "rs151166497" "0" "" "" "g.67754144G>A" "" "VUS" "" "0000648954" "1" "10" "14" "68234533" "68234533" "subst" "0.00869215" "03575" "ZFYVE26_000095" "g.68234533C>A" "23/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "23 heterozygous; {DB:CLININrs34952009}" "Germline" "" "rs34952009" "0" "" "" "g.67767816C>A" "" "benign" "" "0000648955" "1" "10" "14" "68236320" "68236320" "subst" "0.00996599" "03575" "ZFYVE26_000042" "g.68236320C>T" "9/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous, no homozygous; {DB:CLININrs61746722}" "Germline" "" "rs61746722" "0" "" "" "g.67769603C>T" "" "benign" "" "0000648956" "1" "30" "14" "68251934" "68251934" "subst" "0.0243057" "03575" "ZFYVE26_000046" "g.68251934G>A" "86/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "86 heterozygous; {DB:CLININrs3742884}" "Germline" "" "rs3742884" "0" "" "" "g.67785217G>A" "" "likely benign" "" "0000648958" "1" "30" "14" "68265135" "68265135" "subst" "0.00922772" "03575" "ZFYVE26_000055" "g.68265135G>A" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs117228915}" "Germline" "" "rs117228915" "0" "" "" "g.67798418G>A" "" "likely benign" "" "0000657468" "0" "50" "14" "68270866" "68270866" "subst" "3.65453E-5" "01943" "ZFYVE26_000096" "g.68270866G>A" "" "" "" "ZFYVE26(NM_015346.3):c.1387C>T (p.L463F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67804149G>A" "" "VUS" "" "0000669257" "3" "10" "14" "68234533" "68234533" "subst" "0.00869215" "03575" "ZFYVE26_000095" "g.68234533C>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs34952009}" "Germline" "" "rs34952009" "0" "" "" "g.67767816C>A" "" "benign" "" "0000669258" "3" "30" "14" "68251934" "68251934" "subst" "0.0243057" "03575" "ZFYVE26_000046" "g.68251934G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs3742884}" "Germline" "" "rs3742884" "0" "" "" "g.67785217G>A" "" "likely benign" "" "0000669259" "3" "30" "14" "68251991" "68251991" "subst" "0.030049" "03575" "ZFYVE26_000047" "g.68251991G>A" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 homozygous; {DB:CLININrs3742885}" "Germline" "" "rs3742885" "0" "" "" "g.67785274G>A" "" "likely benign" "" "0000680017" "0" "30" "14" "68274375" "68274375" "subst" "1.22003E-5" "01943" "ZFYVE26_000097" "g.68274375G>A" "" "" "" "ZFYVE26(NM_015346.3):c.626C>T (p.S209L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691696" "0" "30" "14" "68270833" "68270833" "subst" "0" "01943" "ZFYVE26_000098" "g.68270833G>A" "" "" "" "ZFYVE26(NM_015346.3):c.1420C>T (p.P474S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691697" "0" "50" "14" "68280690" "68280690" "subst" "0.00133154" "02327" "ZFYVE26_000099" "g.68280690T>C" "" "" "" "ZFYVE26(NM_015346.3):c.273+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691698" "0" "70" "14" "68282579" "68282579" "del" "0" "01943" "RAD51B_000017" "g.68282579del" "" "" "" "ZFYVE26(NM_015346.3):c.102delA (p.C35Vfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000701852" "3" "50" "14" "68268811" "68268812" "del" "0" "00006" "ZFYVE26_000100" "g.68268811_68268812del" "" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Germline" "" "" "0" "" "" "g.67802094_67802095del" "" "VUS" "" "0000724846" "0" "30" "14" "68275919" "68275919" "subst" "0.000121882" "01943" "ZFYVE26_000036" "g.68275919C>T" "" "" "" "ZFYVE26(NM_015346.3):c.361G>A (p.E121K, p.(Glu121Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000787083" "3" "70" "14" "68222759" "68222759" "subst" "0" "00006" "ZFYVE26_000101" "g.68222759A>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.67756042A>T" "" "likely pathogenic" "" "0000787427" "3" "50" "14" "68249899" "68249899" "subst" "0.000143745" "00006" "ZFYVE26_000074" "g.68249899A>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs776708469" "0" "" "" "g.67783182A>T" "{CV-RCV:000380893.1}" "VUS" "" "0000806470" "0" "30" "14" "68215156" "68215156" "subst" "0.000429863" "01943" "ZFYVE26_000102" "g.68215156C>T" "" "" "" "ZFYVE26(NM_015346.3):c.7617G>A (p.K2539=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806471" "0" "30" "14" "68250088" "68250088" "subst" "1.62534E-5" "01943" "ZFYVE26_000103" "g.68250088C>T" "" "" "" "ZFYVE26(NM_015346.3):c.3781G>A (p.A1261T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806472" "0" "50" "14" "68250174" "68250174" "subst" "0" "01943" "ZFYVE26_000104" "g.68250174C>G" "" "" "" "ZFYVE26(NM_015346.3):c.3695G>C (p.C1232S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806473" "0" "30" "14" "68265109" "68265109" "subst" "0.000742324" "01943" "ZFYVE26_000105" "g.68265109C>T" "" "" "" "ZFYVE26(NM_015346.3):c.1870G>A (p.A624T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806474" "0" "30" "14" "68265242" "68265242" "subst" "0" "01943" "ZFYVE26_000106" "g.68265242G>A" "" "" "" "ZFYVE26(NM_015346.3):c.1737C>T (p.F579=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853868" "0" "50" "14" "68233164" "68233164" "subst" "1.22402E-5" "01943" "ZFYVE26_000040" "g.68233164C>T" "" "" "" "ZFYVE26(NM_015346.3):c.5791G>A (p.A1931T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853869" "0" "30" "14" "68238847" "68238847" "subst" "0.000360399" "01943" "ZFYVE26_000043" "g.68238847C>T" "" "" "" "ZFYVE26(NM_015346.3):c.5401G>A (p.A1801T), ZFYVE26(NM_015346.4):c.5401G>A (p.(Ala1801Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853870" "0" "50" "14" "68244313" "68244313" "subst" "1.21844E-5" "01943" "ZFYVE26_000109" "g.68244313C>T" "" "" "" "ZFYVE26(NM_015346.3):c.4937G>A (p.R1646Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853871" "0" "30" "14" "68249545" "68249545" "subst" "0.000450992" "01943" "ZFYVE26_000111" "g.68249545C>T" "" "" "" "ZFYVE26(NM_015346.3):c.4324G>A (p.D1442N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853872" "0" "30" "14" "68274324" "68274324" "subst" "0.00170255" "02326" "ZFYVE26_000086" "g.68274324C>T" "" "" "" "ZFYVE26(NM_015346.3):c.677G>A (p.R226H), ZFYVE26(NM_015346.4):c.677G>A (p.(Arg226His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863623" "0" "30" "14" "68217817" "68217817" "subst" "2.43673E-5" "01943" "ZFYVE26_000107" "g.68217817T>C" "" "" "" "ZFYVE26(NM_015346.3):c.7372-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863624" "0" "30" "14" "68229395" "68229395" "subst" "1.62625E-5" "01943" "ZFYVE26_000108" "g.68229395G>A" "" "" "" "ZFYVE26(NM_015346.3):c.6153C>T (p.G2051=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863625" "0" "50" "14" "68244926" "68244926" "subst" "0" "01943" "ZFYVE26_000110" "g.68244926T>A" "" "" "" "ZFYVE26(NM_015346.3):c.4714A>T (p.I1572F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863626" "0" "30" "14" "68252651" "68252651" "subst" "3.24939E-5" "01943" "ZFYVE26_000112" "g.68252651A>G" "" "" "" "ZFYVE26(NM_015346.3):c.3228T>C (p.C1076=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863627" "0" "50" "14" "68257405" "68257405" "subst" "0" "01943" "ZFYVE26_000113" "g.68257405A>C" "" "" "" "ZFYVE26(NM_015346.3):c.2639T>G (p.L880R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891852" "0" "30" "14" "68221935" "68221935" "subst" "0.000832765" "02326" "ZFYVE26_000006" "g.68221935C>T" "" "" "" "ZFYVE26(NM_015346.3):c.6819G>A (p.R2273=), ZFYVE26(NM_015346.4):c.6819G>A (p.(Arg2273=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891853" "0" "50" "14" "68229099" "68229099" "subst" "3.66479E-5" "02325" "ZFYVE26_000114" "g.68229099C>T" "" "" "" "ZFYVE26(NM_015346.4):c.6190G>A (p.(Gly2064Arg), p.G2064R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891854" "0" "30" "14" "68250147" "68250147" "subst" "0.00314407" "02326" "ZFYVE26_000022" "g.68250147C>T" "" "" "" "ZFYVE26(NM_015346.3):c.3722G>A (p.R1241Q, p.(Arg1241Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891855" "0" "50" "14" "68268871" "68268871" "subst" "0" "02325" "ZFYVE26_000115" "g.68268871G>T" "" "" "" "ZFYVE26(NM_015346.4):c.1564C>A (p.Q522K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891856" "0" "50" "14" "68274315" "68274315" "subst" "3.25005E-5" "02325" "ZFYVE26_000116" "g.68274315G>T" "" "" "" "ZFYVE26(NM_015346.4):c.686C>A (p.A229E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914211" "0" "50" "14" "68236348" "68236348" "subst" "6.50391E-5" "02325" "ZFYVE26_000117" "g.68236348G>A" "" "" "" "ZFYVE26(NM_015346.4):c.5584C>T (p.(Arg1862Cys), p.R1862C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925903" "0" "30" "14" "68249672" "68249672" "subst" "0.00225891" "02326" "ZFYVE26_000021" "g.68249672G>A" "" "" "" "ZFYVE26(NM_015346.3):c.4197C>T (p.T1399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930322" "0" "30" "14" "68215240" "68215240" "subst" "0.00123502" "02326" "ZFYVE26_000001" "g.68215240G>A" "" "" "" "ZFYVE26(NM_015346.3):c.7533C>T (p.S2511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000946836" "3" "90" "14" "68272263" "68272263" "del" "0" "00006" "ZFYVE26_000118" "g.68272263del" "" "{PMID:Saadi 2023:37510308}" "" "" "ACMG PVS1, PM2, PP1, PP4" "Germline" "yes" "" "0" "" "" "g.67805546del" "" "pathogenic (recessive)" "" "0000946837" "3" "90" "14" "68272263" "68272263" "del" "0" "00006" "ZFYVE26_000118" "g.68272263del" "" "{PMID:Saadi 2023:37510308}" "" "" "ACMG PVS1, PM2, PP1, PP4" "Germline" "yes" "" "0" "" "" "g.67805546del" "" "pathogenic (recessive)" "" "0000946838" "3" "90" "14" "68272263" "68272263" "del" "0" "00006" "ZFYVE26_000118" "g.68272263del" "" "{PMID:Saadi 2023:37510308}" "" "" "ACMG PVS1, PM2, PP1, PP4" "Germline" "yes" "" "0" "" "" "g.67805546del" "" "pathogenic (recessive)" "" "0000950267" "0" "30" "14" "68219043" "68219043" "subst" "0.00346056" "02326" "ZFYVE26_000119" "g.68219043G>A" "" "" "" "ZFYVE26(NM_015346.3):c.7371+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950268" "0" "30" "14" "68272021" "68272021" "subst" "0.00347685" "02326" "ZFYVE26_000032" "g.68272021C>A" "" "" "" "ZFYVE26(NM_015346.3):c.1184G>T (p.G395V, p.(Gly395Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967529" "0" "30" "14" "68248218" "68248218" "subst" "0.00137706" "02326" "ZFYVE26_000120" "g.68248218G>A" "" "" "" "ZFYVE26(NM_015346.3):c.4401C>T (p.P1467=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980966" "0" "30" "14" "68220861" "68220861" "subst" "0.00301334" "01804" "ZFYVE26_000004" "g.68220861G>A" "" "" "" "ZFYVE26(NM_015346.3):c.7055C>T (p.T2352I), ZFYVE26(NM_015346.4):c.7055C>T (p.(Thr2352Ile), p.T2352I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980967" "0" "50" "14" "68220897" "68220897" "subst" "4.06118E-6" "01804" "ZFYVE26_000122" "g.68220897A>G" "" "" "" "ZFYVE26(NM_015346.4):c.7019T>C (p.(Val2340Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980968" "0" "50" "14" "68221861" "68221861" "subst" "0" "01804" "ZFYVE26_000123" "g.68221861T>C" "" "" "" "ZFYVE26(NM_015346.4):c.6893A>G (p.(His2298Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980969" "0" "50" "14" "68229099" "68229099" "subst" "3.66479E-5" "01804" "ZFYVE26_000114" "g.68229099C>T" "" "" "" "ZFYVE26(NM_015346.4):c.6190G>A (p.(Gly2064Arg), p.G2064R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980970" "0" "10" "14" "68234427" "68234427" "subst" "0.00682071" "01804" "ZFYVE26_000124" "g.68234427A>G" "" "" "" "ZFYVE26(NM_015346.4):c.5784T>C (p.(Tyr1928=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000980971" "0" "50" "14" "68236422" "68236422" "subst" "1.21962E-5" "01804" "ZFYVE26_000125" "g.68236422C>T" "" "" "" "ZFYVE26(NM_015346.4):c.5510G>A (p.(Arg1837His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980972" "0" "50" "14" "68249637" "68249637" "subst" "0" "01804" "ZFYVE26_000126" "g.68249637T>G" "" "" "" "ZFYVE26(NM_015346.4):c.4232A>C (p.(Asp1411Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980973" "0" "30" "14" "68249803" "68249803" "subst" "0.00190291" "02326" "ZFYVE26_000072" "g.68249803A>C" "" "" "" "ZFYVE26(NM_015346.3):c.4066T>G (p.C1356G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980974" "0" "30" "14" "68250112" "68250112" "subst" "0.0123927" "01804" "ZFYVE26_000045" "g.68250112G>A" "" "" "" "ZFYVE26(NM_015346.4):c.3757C>T (p.(Leu1253=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980975" "0" "10" "14" "68252669" "68252669" "subst" "0.0242956" "01804" "ZFYVE26_000048" "g.68252669G>C" "" "" "" "ZFYVE26(NM_015346.4):c.3210C>G (p.(Pro1070=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000980976" "0" "30" "14" "68256184" "68256184" "subst" "0.00770251" "01804" "ZFYVE26_000025" "g.68256184C>G" "" "" "" "ZFYVE26(NM_015346.3):c.2887G>C (p.(Val963Leu), p.V963L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980977" "0" "50" "14" "68260479" "68260479" "subst" "0" "01804" "ZFYVE26_000127" "g.68260479G>A" "" "" "" "ZFYVE26(NM_015346.4):c.2402-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980978" "0" "30" "14" "68268838" "68268838" "subst" "0.0032728" "01804" "ZFYVE26_000128" "g.68268838C>T" "" "" "" "ZFYVE26(NM_015346.4):c.1597G>A (p.(Ala533Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980979" "0" "30" "14" "68280690" "68280690" "subst" "0.00133154" "02326" "ZFYVE26_000099" "g.68280690T>C" "" "" "" "ZFYVE26(NM_015346.3):c.273+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001110" "0" "50" "14" "68219058" "68219058" "subst" "2.97086E-5" "01804" "ZFYVE26_000002" "g.68219058T>C" "" "" "" "ZFYVE26(NM_015346.3):c.7371+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001111" "0" "30" "14" "68249605" "68249605" "subst" "0.000613382" "01804" "ZFYVE26_000071" "g.68249605C>T" "" "" "" "ZFYVE26(NM_015346.3):c.4264G>A (p.V1422M, p.(Val1422Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001112" "0" "50" "14" "68264895" "68264895" "subst" "6.09132E-5" "01804" "ZFYVE26_000129" "g.68264895T>C" "" "" "" "ZFYVE26(NM_015346.3):c.2084A>G (p.(Gln695Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001113" "0" "30" "14" "68265046" "68265046" "subst" "0.00536149" "01804" "ZFYVE26_000030" "g.68265046T>C" "" "" "" "ZFYVE26(NM_015346.3):c.1933A>G (p.M645V, p.(Met645Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001114" "0" "50" "14" "68282559" "68282559" "subst" "3.24855E-5" "01804" "RAD51B_000025" "g.68282559T>A" "" "" "" "ZFYVE26(NM_015346.3):c.122A>T (p.(Glu41Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001115" "0" "50" "14" "68282560" "68282560" "subst" "3.24852E-5" "01804" "RAD51B_000026" "g.68282560C>T" "" "" "" "ZFYVE26(NM_015346.3):c.121G>A (p.(Glu41Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015164" "0" "30" "14" "68249803" "68249803" "subst" "0.00190291" "02327" "ZFYVE26_000072" "g.68249803A>C" "" "" "" "ZFYVE26(NM_015346.3):c.4066T>G (p.C1356G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015165" "0" "30" "14" "68252919" "68252919" "subst" "0.000698517" "02326" "ZFYVE26_000024" "g.68252919A>G" "" "" "" "ZFYVE26(NM_015346.3):c.3051T>C (p.A1017=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026399" "0" "30" "14" "68244396" "68244396" "subst" "0.00246481" "02326" "ZFYVE26_000015" "g.68244396G>A" "" "" "" "ZFYVE26(NM_015346.3):c.4854C>T (p.L1618=), ZFYVE26(NM_015346.4):c.4854C>T (p.(Leu1618=), p.L1618=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040050" "0" "10" "14" "68217778" "68217778" "subst" "0.00465384" "01804" "ZFYVE26_000130" "g.68217778A>G" "" "" "" "ZFYVE26(NM_015346.4):c.7407T>C (p.(Asp2469=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001040051" "0" "10" "14" "68221833" "68221833" "subst" "0.0047638" "01804" "ZFYVE26_000131" "g.68221833G>A" "" "" "" "ZFYVE26(NM_015346.4):c.6921C>T (p.(Ser2307=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001040052" "0" "30" "14" "68221935" "68221935" "subst" "0.000832765" "01804" "ZFYVE26_000006" "g.68221935C>T" "" "" "" "ZFYVE26(NM_015346.3):c.6819G>A (p.R2273=), ZFYVE26(NM_015346.4):c.6819G>A (p.(Arg2273=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040053" "0" "50" "14" "68244366" "68244366" "subst" "2.43641E-5" "01804" "ZFYVE26_000132" "g.68244366G>T" "" "" "" "ZFYVE26(NM_015346.4):c.4884C>A (p.(His1628Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040054" "0" "30" "14" "68249744" "68249744" "subst" "4.06659E-5" "01804" "ZFYVE26_000133" "g.68249744C>T" "" "" "" "ZFYVE26(NM_015346.4):c.4125G>A (p.(Glu1375=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040055" "0" "30" "14" "68252945" "68252945" "subst" "0.000264847" "01804" "ZFYVE26_000134" "g.68252945G>A" "" "" "" "ZFYVE26(NM_015346.4):c.3025C>T (p.(Arg1009Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040056" "0" "10" "14" "68256219" "68256219" "subst" "0.0056264" "01804" "ZFYVE26_000135" "g.68256219G>A" "" "" "" "ZFYVE26(NM_015346.4):c.2852C>T (p.(Thr951Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001040057" "0" "70" "14" "68260474" "68260474" "subst" "0" "01804" "ZFYVE26_000136" "g.68260474C>A" "" "" "" "ZFYVE26(NM_015346.4):c.2404G>T (p.(Gly802*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001054862" "0" "30" "14" "68229094" "68229094" "subst" "1.22095E-5" "01804" "ZFYVE26_000137" "g.68229094C>T" "" "" "" "ZFYVE26(NM_015346.4):c.6195G>A (p.(Ala2065=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054863" "0" "30" "14" "68233156" "68233156" "subst" "0.000269019" "01804" "ZFYVE26_000138" "g.68233156G>A" "" "" "" "ZFYVE26(NM_015346.4):c.5799C>T (p.(Ser1933=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054864" "0" "10" "14" "68234533" "68234533" "subst" "0.00869215" "01804" "ZFYVE26_000095" "g.68234533C>A" "" "" "" "ZFYVE26(NM_015346.4):c.5678G>T (p.(Ser1893Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001054865" "0" "50" "14" "68236348" "68236348" "subst" "6.50391E-5" "01804" "ZFYVE26_000117" "g.68236348G>A" "" "" "" "ZFYVE26(NM_015346.4):c.5584C>T (p.(Arg1862Cys), p.R1862C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054866" "0" "50" "14" "68244308" "68244308" "subst" "8.12229E-6" "01804" "ZFYVE26_000139" "g.68244308G>A" "" "" "" "ZFYVE26(NM_015346.4):c.4942C>T (p.(Arg1648Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054867" "0" "30" "14" "68244396" "68244396" "subst" "0.00246481" "01804" "ZFYVE26_000015" "g.68244396G>A" "" "" "" "ZFYVE26(NM_015346.3):c.4854C>T (p.L1618=), ZFYVE26(NM_015346.4):c.4854C>T (p.(Leu1618=), p.L1618=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054868" "0" "10" "14" "68271981" "68271981" "subst" "0.0183315" "01804" "ZFYVE26_000140" "g.68271981C>A" "" "" "" "ZFYVE26(NM_015346.4):c.1224G>T (p.(Gly408=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001054869" "0" "50" "14" "68274408" "68274408" "subst" "2.8462E-5" "01804" "ZFYVE26_000035" "g.68274408C>T" "" "" "" "ZFYVE26(NM_015346.3):c.593G>A (p.R198Q), ZFYVE26(NM_015346.4):c.593G>A (p.(Arg198Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066086" "0" "50" "14" "68229095" "68229095" "subst" "0" "02325" "ZFYVE26_000141" "g.68229095G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066087" "0" "50" "14" "68229394" "68229394" "subst" "0.000203262" "02325" "ZFYVE26_000009" "g.68229394C>T" "" "" "" "ZFYVE26(NM_015346.3):c.6154G>A (p.V2052I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066088" "0" "50" "14" "68238847" "68238847" "subst" "0.000360399" "01804" "ZFYVE26_000043" "g.68238847C>T" "" "" "" "ZFYVE26(NM_015346.3):c.5401G>A (p.A1801T), ZFYVE26(NM_015346.4):c.5401G>A (p.(Ala1801Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066089" "0" "50" "14" "68264470" "68264470" "subst" "1.62594E-5" "02325" "ZFYVE26_000142" "g.68264470C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066090" "0" "50" "14" "68274558" "68274558" "subst" "8.14498E-6" "01804" "ZFYVE26_000143" "g.68274558C>A" "" "" "" "ZFYVE26(NM_015346.4):c.443G>T (p.(Arg148Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001069320" "3" "70" "14" "68234532" "68234532" "del" "0" "00006" "ZFYVE26_000148" "g.68234532del" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1VS, PM2M" "Germline" "" "" "0" "" "" "g.67767815del" "SCV006075364.1" "likely pathogenic" "ACMG" "0001069400" "3" "70" "14" "68233170" "68233170" "subst" "2.45044E-5" "00006" "ZFYVE26_000147" "g.68233170C>T" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2_mod, PM3_mod, PP3_sp, PP5_sp" "Germline" "" "" "0" "" "" "g.67766453C>T" "SCV006075363.1" "likely pathogenic" "ACMG" "0001069407" "0" "50" "14" "" "" "" "" "00006" "ZFYVE26_000144" "g.(68260957_68264139)_68265589_68268795)del" "" "{PMID:Molaei 2025:41315541}" "" "del ex11-12, NC_000014.9:g.(?_68264139)_(68265589_?)del" "" "Germline" "" "" "0" "" "" "g.(67794240_67797422)_(67798872_67802078)del" "" "VUS" "" "0001069487" "3" "70" "14" "68236449" "68236449" "subst" "0" "00006" "ZFYVE26_000149" "g.68236449T>C" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1_str, PM2_mod, PP5_sup" "Germline" "" "" "0" "" "" "g.67769732T>C" "SCV006075365.1" "likely pathogenic" "ACMG" "0001069793" "3" "70" "14" "68222746" "68222746" "del" "0" "00006" "ZFYVE26_000145" "g.68222746del" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.67756029del" "SCV001755476" "likely pathogenic" "ACMG" "0001069841" "3" "70" "14" "68229092" "68229092" "subst" "0" "00006" "ZFYVE26_000146" "g.68229092C>T" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1, PM2," "Germline" "" "" "0" "" "" "g.67762375C>T" "SCV001755312" "likely pathogenic" "ACMG" "0001069871" "3" "70" "14" "68282507" "68282507" "del" "0" "00006" "ZFYVE26_000150" "g.68282507del" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.67815790del" "SCV001755185" "likely pathogenic" "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 ZFYVE26 ## Count = 214 "{{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}}" "0000254274" "00023172" "30" "3051" "0" "3051" "0" "c.3051T>C" "r.(?)" "p.(Ala1017=)" "" "0000254453" "00023172" "30" "4782" "0" "4782" "0" "c.4782T>C" "r.(?)" "p.(His1594=)" "" "0000313139" "00023172" "90" "2357" "0" "2357" "0" "c.2357del" "r.(?)" "p.(Pro786HisfsTer10)" "" "0000313140" "00023172" "10" "4370" "0" "4370" "0" "c.4370G>A" "r.(?)" "p.(Cys1457Tyr)" "" "0000313141" "00023172" "30" "4854" "0" "4854" "0" "c.4854C>T" "r.(?)" "p.(Leu1618=)" "" "0000313142" "00023172" "10" "5485" "-75" "5485" "-75" "c.5485-75C>T" "r.(=)" "p.(=)" "" "0000313143" "00023172" "10" "5672" "0" "5672" "0" "c.5672A>G" "r.(?)" "p.(Asn1891Ser)" "" "0000315537" "00023172" "90" "1261" "0" "1261" "0" "c.1261C>T" "r.(?)" "p.(Gln421Ter)" "" "0000315538" "00023172" "10" "2826" "0" "2826" "0" "c.2826G>A" "r.(?)" "p.(Met942Ile)" "" "0000315539" "00023172" "10" "2887" "0" "2887" "0" "c.2887G>C" "r.(?)" "p.(Val963Leu)" "" "0000315540" "00023172" "90" "3139" "1" "3139" "1" "c.3139+1G>A" "r.spl?" "p.?" "" "0000315541" "00023172" "30" "7232" "0" "7232" "0" "c.7232G>A" "r.(?)" "p.(Arg2411His)" "" "0000320165" "00023172" "50" "1184" "0" "1184" "0" "c.1184G>T" "r.(?)" "p.(Gly395Val)" "" "0000320166" "00023172" "30" "1933" "0" "1933" "0" "c.1933A>G" "r.(?)" "p.(Met645Val)" "" "0000320167" "00023172" "50" "2585" "0" "2585" "0" "c.2585C>G" "r.(?)" "p.(Pro862Arg)" "" "0000320168" "00023172" "30" "2853" "0" "2853" "0" "c.2853G>A" "r.(?)" "p.(Thr951=)" "" "0000320169" "00023172" "30" "3722" "0" "3722" "0" "c.3722G>A" "r.(?)" "p.(Arg1241Gln)" "" "0000320170" "00023172" "30" "4197" "0" "4197" "0" "c.4197C>T" "r.(?)" "p.(Thr1399=)" "" "0000320171" "00023172" "50" "4309" "0" "4309" "0" "c.4309G>A" "r.(?)" "p.(Gly1437Arg)" "" "0000320172" "00023172" "30" "4734" "0" "4734" "0" "c.4734C>T" "r.(?)" "p.(Ile1578=)" "" "0000320173" "00023172" "30" "4854" "0" "4854" "0" "c.4854C>T" "r.(?)" "p.(Leu1618=)" "" "0000320174" "00023172" "50" "5216" "0" "5216" "0" "c.5216G>T" "r.(?)" "p.(Arg1739Leu)" "" "0000320175" "00023172" "30" "5260" "0" "5260" "0" "c.5260G>A" "r.(?)" "p.(Ala1754Thr)" "" "0000320176" "00023172" "50" "5767" "0" "5767" "0" "c.5767C>T" "r.(?)" "p.(Arg1923Trp)" "" "0000320177" "00023172" "30" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.(Arg198Gln)" "" "0000320178" "00023172" "50" "6154" "0" "6154" "0" "c.6154G>A" "r.(?)" "p.(Val2052Ile)" "" "0000320179" "00023172" "30" "6189" "0" "6189" "0" "c.6189C>T" "r.(?)" "p.(Thr2063=)" "" "0000320180" "00023172" "50" "6629" "0" "6629" "0" "c.6629C>G" "r.(?)" "p.(Pro2210Arg)" "" "0000320181" "00023172" "10" "6819" "0" "6819" "0" "c.6819G>A" "r.(?)" "p.(Arg2273=)" "" "0000320182" "00023172" "30" "6849" "0" "6849" "0" "c.6849A>G" "r.(?)" "p.(Thr2283=)" "" "0000320183" "00023172" "30" "7055" "0" "7055" "0" "c.7055C>T" "r.(?)" "p.(Thr2352Ile)" "" "0000320184" "00023172" "50" "7371" "3" "7371" "3" "c.7371+3A>G" "r.spl?" "p.?" "" "0000320185" "00023172" "10" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Glu250Lys)" "" "0000320186" "00023172" "30" "7533" "0" "7533" "0" "c.7533C>T" "r.(?)" "p.(Ser2511=)" "" "0000320187" "00023172" "30" "987" "0" "987" "0" "c.987C>T" "r.(?)" "p.(Ser329=)" "" "0000323737" "00023172" "50" "4293" "0" "4293" "0" "c.4293G>C" "r.(?)" "p.(Gln1431His)" "" "0000323738" "00023172" "50" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Glu121Lys)" "" "0000338618" "00023172" "10" "6987" "-3" "6987" "-3" "c.6987-3C>T" "r.spl?" "p.?" "" "0000338619" "00023172" "10" "2401" "11" "2401" "11" "c.2401+11T>A" "r.(=)" "p.(=)" "" "0000338620" "00023172" "10" "-70" "0" "-70" "0" "c.-70A>T" "r.(?)" "p.(=)" "" "0000340377" "00023172" "50" "7041" "0" "7041" "0" "c.7041C>T" "r.(?)" "p.(Cys2347=)" "" "0000340378" "00023172" "30" "6405" "0" "6405" "0" "c.6405G>A" "r.(?)" "p.(Leu2135=)" "" "0000340379" "00023172" "30" "4734" "0" "4734" "0" "c.4734C>T" "r.(?)" "p.(Ile1578=)" "" "0000340380" "00023172" "10" "3757" "0" "3757" "0" "c.3757C>T" "r.(?)" "p.(Leu1253=)" "" "0000340381" "00023172" "10" "3210" "0" "3210" "0" "c.3210C>G" "r.(?)" "p.(Pro1070=)" "" "0000340382" "00023172" "10" "2559" "0" "2559" "0" "c.2559G>A" "r.(?)" "p.(Leu853=)" "" "0000340383" "00023172" "10" "2112" "0" "2112" "0" "c.2112=" "r.(=)" "p.(Pro704=)" "" "0000341120" "00023172" "10" "3365" "0" "3365" "0" "c.3365C>T" "r.(?)" "p.(Ala1122Val)" "" "0000341275" "00023172" "50" "662" "0" "662" "0" "c.662C>G" "r.(?)" "p.(Ala221Gly)" "" "0000341812" "00023172" "30" "3722" "0" "3722" "0" "c.3722G>A" "r.(?)" "p.(Arg1241Gln)" "" "0000342378" "00023172" "30" "7232" "0" "7232" "0" "c.7232G>A" "r.(?)" "p.(Arg2411His)" "" "0000343634" "00023172" "10" "5672" "0" "5672" "0" "c.5672A>G" "r.(?)" "p.(Asn1891Ser)" "" "0000344276" "00023172" "10" "4370" "0" "4370" "0" "c.4370G>A" "r.(?)" "p.(Cys1457Tyr)" "" "0000344292" "00023172" "30" "5612" "0" "5612" "0" "c.5612G>A" "r.(?)" "p.(Cys1871Tyr)" "" "0000344556" "00023172" "50" "4293" "0" "4293" "0" "c.4293G>C" "r.(?)" "p.(Gln1431His)" "" "0000347907" "00023172" "50" "2486" "0" "2486" "0" "c.2486T>C" "r.(?)" "p.(Met829Thr)" "" "0000347914" "00023172" "10" "2826" "0" "2826" "0" "c.2826G>A" "r.(?)" "p.(Met942Ile)" "" "0000348135" "00023172" "10" "3308" "0" "3308" "0" "c.3308C>T" "r.(?)" "p.(Pro1103Leu)" "" "0000348641" "00023172" "10" "3118" "0" "3118" "0" "c.3118T>A" "r.(?)" "p.(Ser1040Thr)" "" "0000349121" "00023172" "30" "1844" "0" "1844" "0" "c.1844C>T" "r.(?)" "p.(Ser615Phe)" "" "0000349651" "00023172" "10" "2692" "0" "2692" "0" "c.2692A>T" "r.(?)" "p.(Thr898Ser)" "" "0000350300" "00023172" "50" "4402" "0" "4402" "0" "c.4402G>A" "r.(?)" "p.(Val1468Met)" "" "0000350696" "00023172" "30" "2887" "0" "2887" "0" "c.2887G>C" "r.(?)" "p.(Val963Leu)" "" "0000356904" "00023172" "90" "2263" "0" "2263" "0" "c.2263C>T" "r.(?)" "p.(Arg755*)" "" "0000552879" "00023172" "10" "7586" "0" "7586" "0" "c.7586C>G" "r.(?)" "p.(Pro2529Arg)" "" "0000552880" "00023172" "30" "7417" "-5" "7417" "-5" "c.7417-5G>C" "r.spl?" "p.?" "" "0000552881" "00023172" "30" "7354" "0" "7354" "0" "c.7354A>G" "r.(?)" "p.(Lys2452Glu)" "" "0000552882" "00023172" "30" "7306" "0" "7306" "0" "c.7306G>A" "r.(?)" "p.(Ala2436Thr)" "" "0000552883" "00023172" "10" "7232" "0" "7232" "0" "c.7232G>A" "r.(?)" "p.(Arg2411His)" "" "0000552884" "00023172" "30" "7128" "4" "7128" "4" "c.7128+4C>T" "r.spl?" "p.?" "" "0000552885" "00023172" "30" "7055" "0" "7055" "0" "c.7055C>T" "r.(?)" "p.(Thr2352Ile)" "" "0000552886" "00023172" "30" "6987" "-3" "6987" "-3" "c.6987-3C>T" "r.spl?" "p.?" "" "0000552887" "00023172" "30" "6789" "0" "6789" "0" "c.6789C>T" "r.(?)" "p.(Asp2263=)" "" "0000552888" "00023172" "30" "6507" "0" "6507" "0" "c.6507C>T" "r.(?)" "p.(Asn2169=)" "" "0000552890" "00023172" "30" "6228" "0" "6228" "0" "c.6228C>T" "r.(?)" "p.(Ala2076=)" "" "0000552891" "00023172" "30" "6086" "0" "6086" "0" "c.6086T>C" "r.(?)" "p.(Ile2029Thr)" "" "0000552892" "00023172" "30" "5612" "0" "5612" "0" "c.5612G>A" "r.(?)" "p.(Cys1871Tyr)" "" "0000552893" "00023172" "30" "5484" "13" "5484" "13" "c.5484+13G>A" "r.(=)" "p.(=)" "" "0000552894" "00023172" "30" "5472" "0" "5472" "0" "c.5472G>A" "r.(?)" "p.(Glu1824=)" "" "0000552896" "00023172" "10" "4264" "0" "4264" "0" "c.4264G>A" "r.(?)" "p.(Val1422Met)" "" "0000552897" "00023172" "30" "4066" "0" "4066" "0" "c.4066T>G" "r.(?)" "p.(Cys1356Gly)" "" "0000552899" "00023172" "30" "3970" "0" "3970" "0" "c.3970T>A" "r.(?)" "p.(Ser1324Thr)" "" "0000552900" "00023172" "30" "3722" "0" "3722" "0" "c.3722G>A" "r.(?)" "p.(Arg1241Gln)" "" "0000552901" "00023172" "30" "3470" "0" "3470" "0" "c.3470G>C" "r.(?)" "p.(Ser1157Thr)" "" "0000552902" "00023172" "30" "3365" "0" "3365" "0" "c.3365C>T" "r.(?)" "p.(Ala1122Val)" "" "0000552903" "00023172" "30" "3308" "0" "3308" "0" "c.3308C>T" "r.(?)" "p.(Pro1103Leu)" "" "0000552904" "00023172" "30" "3236" "0" "3236" "0" "c.3236G>A" "r.(?)" "p.(Ser1079Asn)" "" "0000552905" "00023172" "30" "3210" "0" "3210" "0" "c.3210C>T" "r.(?)" "p.(Pro1070=)" "" "0000552906" "00023172" "10" "3118" "0" "3118" "0" "c.3118T>A" "r.(?)" "p.(Ser1040Thr)" "" "0000552907" "00023172" "10" "3118" "0" "3118" "0" "c.3118T>A" "r.(?)" "p.(Ser1040Thr)" "" "0000552908" "00023172" "10" "3118" "0" "3118" "0" "c.3118T>A" "r.(?)" "p.(Ser1040Thr)" "" "0000552909" "00023172" "30" "3112" "0" "3112" "0" "c.3112C>T" "r.(?)" "p.(Leu1038Phe)" "" "0000552910" "00023172" "50" "3025" "0" "3025" "0" "c.3025C>G" "r.(?)" "p.(Arg1009Gly)" "" "0000552911" "00023172" "50" "2834" "0" "2834" "0" "c.2834A>T" "r.(?)" "p.(Glu945Val)" "" "0000552912" "00023172" "30" "2332" "7" "2332" "7" "c.2332+7del" "r.(=)" "p.(=)" "" "0000552913" "00023172" "10" "2112" "0" "2112" "0" "c.2112=" "r.(=)" "p.(Pro704=)" "" "0000552914" "00023172" "30" "2067" "0" "2067" "0" "c.2067C>T" "r.(?)" "p.(Leu689=)" "" "0000552915" "00023172" "90" "2030" "0" "2030" "0" "c.2030del" "r.(?)" "p.(Gly677AspfsTer9)" "" "0000552916" "00023172" "30" "1844" "0" "1844" "0" "c.1844C>T" "r.(?)" "p.(Ser615Phe)" "" "0000552917" "00023172" "90" "1343" "0" "1344" "0" "c.1343_1344del" "r.(?)" "p.(Leu448ProfsTer31)" "" "0000552918" "00023172" "30" "1184" "0" "1184" "0" "c.1184G>T" "r.(?)" "p.(Gly395Val)" "" "0000552919" "00023172" "30" "1178" "0" "1178" "0" "c.1178C>A" "r.(?)" "p.(Thr393Asn)" "" "0000552920" "00023172" "30" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Glu250Lys)" "" "0000552921" "00023172" "30" "677" "0" "677" "0" "c.677G>A" "r.(?)" "p.(Arg226His)" "" "0000552922" "00023172" "30" "677" "0" "677" "0" "c.677G>A" "r.(?)" "p.(Arg226His)" "" "0000552923" "00023172" "30" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Arg202Gln)" "" "0000552925" "00023172" "30" "6" "0" "6" "0" "c.6T>A" "r.(?)" "p.(Asn2Lys)" "" "0000615050" "00023172" "30" "5260" "0" "5260" "0" "c.5260G>A" "r.(?)" "p.(Ala1754Thr)" "" "0000615051" "00023172" "30" "5260" "0" "5260" "0" "c.5260G>A" "r.(?)" "p.(Ala1754Thr)" "" "0000615052" "00023172" "30" "4293" "0" "4293" "0" "c.4293G>C" "r.(?)" "p.(Gln1431His)" "" "0000615053" "00023172" "30" "3950" "0" "3950" "0" "c.3950C>T" "r.(?)" "p.(Thr1317Met)" "" "0000615054" "00023172" "30" "3733" "0" "3733" "0" "c.3733C>A" "r.(?)" "p.(Gln1245Lys)" "" "0000615055" "00023172" "30" "3681" "0" "3681" "0" "c.3681C>T" "r.(?)" "p.(Ile1227=)" "" "0000615056" "00023172" "50" "3031" "0" "3031" "0" "c.3031G>A" "r.(?)" "p.(Asp1011Asn)" "" "0000615057" "00023172" "50" "2423" "0" "2423" "0" "c.2423C>G" "r.(?)" "p.(Ser808Cys)" "" "0000615058" "00023172" "30" "1913" "0" "1913" "0" "c.1913C>G" "r.(?)" "p.(Pro638Arg)" "" "0000623157" "00023172" "30" "3072" "0" "3072" "0" "c.3072A>G" "r.(?)" "p.(Pro1024=)" "" "0000648953" "00023172" "50" "7055" "0" "7055" "0" "c.7055C>T" "r.(?)" "p.(Thr2352Ile)" "" "0000648954" "00023172" "10" "5678" "0" "5678" "0" "c.5678G>T" "r.(?)" "p.(Ser1893Ile)" "" "0000648955" "00023172" "10" "5612" "0" "5612" "0" "c.5612G>A" "r.(?)" "p.(Cys1871Tyr)" "" "0000648956" "00023172" "30" "3365" "0" "3365" "0" "c.3365C>T" "r.(?)" "p.(Ala1122Val)" "" "0000648958" "00023172" "30" "1844" "0" "1844" "0" "c.1844C>T" "r.(?)" "p.(Ser615Phe)" "" "0000657468" "00023172" "50" "1387" "0" "1387" "0" "c.1387C>T" "r.(?)" "p.(Leu463Phe)" "" "0000669257" "00023172" "10" "5678" "0" "5678" "0" "c.5678G>T" "r.(?)" "p.(Ser1893Ile)" "" "0000669258" "00023172" "30" "3365" "0" "3365" "0" "c.3365C>T" "r.(?)" "p.(Ala1122Val)" "" "0000669259" "00023172" "30" "3308" "0" "3308" "0" "c.3308C>T" "r.(?)" "p.(Pro1103Leu)" "" "0000680017" "00023172" "30" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Ser209Leu)" "" "0000691696" "00023172" "30" "1420" "0" "1420" "0" "c.1420C>T" "r.(?)" "p.(Pro474Ser)" "" "0000691697" "00023172" "50" "273" "13" "273" "13" "c.273+13A>G" "r.(=)" "p.(=)" "" "0000691698" "00023172" "70" "102" "0" "102" "0" "c.102del" "r.(?)" "p.(Cys35ValfsTer16)" "" "0000701852" "00023172" "50" "1630" "0" "1631" "0" "c.1630_1631del" "r.(?)" "p.(Ser544Leufs*24)" "" "0000724846" "00023172" "30" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Glu121Lys)" "" "0000787083" "00023172" "70" "6692" "0" "6692" "0" "c.6692T>A" "r.(?)" "p.(Leu2231Ter)" "36" "0000787427" "00023172" "50" "3970" "0" "3970" "0" "c.3970T>A" "r.(?)" "p.(Ser1324Thr)" "21" "0000806470" "00023172" "30" "7617" "0" "7617" "0" "c.7617G>A" "r.(?)" "p.(Lys2539=)" "" "0000806471" "00023172" "30" "3781" "0" "3781" "0" "c.3781G>A" "r.(?)" "p.(Ala1261Thr)" "" "0000806472" "00023172" "50" "3695" "0" "3695" "0" "c.3695G>C" "r.(?)" "p.(Cys1232Ser)" "" "0000806473" "00023172" "30" "1870" "0" "1870" "0" "c.1870G>A" "r.(?)" "p.(Ala624Thr)" "" "0000806474" "00023172" "30" "1737" "0" "1737" "0" "c.1737C>T" "r.(?)" "p.(Phe579=)" "" "0000853868" "00023172" "50" "5791" "0" "5791" "0" "c.5791G>A" "r.(?)" "p.(Ala1931Thr)" "" "0000853869" "00023172" "30" "5401" "0" "5401" "0" "c.5401G>A" "r.(?)" "p.(Ala1801Thr)" "" "0000853870" "00023172" "50" "4937" "0" "4937" "0" "c.4937G>A" "r.(?)" "p.(Arg1646Gln)" "" "0000853871" "00023172" "30" "4324" "0" "4324" "0" "c.4324G>A" "r.(?)" "p.(Asp1442Asn)" "" "0000853872" "00023172" "30" "677" "0" "677" "0" "c.677G>A" "r.(?)" "p.(Arg226His)" "" "0000863623" "00023172" "30" "7372" "-4" "7372" "-4" "c.7372-4A>G" "r.spl?" "p.?" "" "0000863624" "00023172" "30" "6153" "0" "6153" "0" "c.6153C>T" "r.(?)" "p.(Gly2051=)" "" "0000863625" "00023172" "50" "4714" "0" "4714" "0" "c.4714A>T" "r.(?)" "p.(Ile1572Phe)" "" "0000863626" "00023172" "30" "3228" "0" "3228" "0" "c.3228T>C" "r.(?)" "p.(Cys1076=)" "" "0000863627" "00023172" "50" "2639" "0" "2639" "0" "c.2639T>G" "r.(?)" "p.(Leu880Arg)" "" "0000891852" "00023172" "30" "6819" "0" "6819" "0" "c.6819G>A" "r.(?)" "p.(Arg2273=)" "" "0000891853" "00023172" "50" "6190" "0" "6190" "0" "c.6190G>A" "r.(?)" "p.(Gly2064Arg)" "" "0000891854" "00023172" "30" "3722" "0" "3722" "0" "c.3722G>A" "r.(?)" "p.(Arg1241Gln)" "" "0000891855" "00023172" "50" "1564" "0" "1564" "0" "c.1564C>A" "r.(?)" "p.(Gln522Lys)" "" "0000891856" "00023172" "50" "686" "0" "686" "0" "c.686C>A" "r.(?)" "p.(Ala229Glu)" "" "0000914211" "00023172" "50" "5584" "0" "5584" "0" "c.5584C>T" "r.(?)" "p.(Arg1862Cys)" "" "0000925903" "00023172" "30" "4197" "0" "4197" "0" "c.4197C>T" "r.(?)" "p.(Thr1399=)" "" "0000930322" "00023172" "30" "7533" "0" "7533" "0" "c.7533C>T" "r.(?)" "p.(Ser2511=)" "" "0000946836" "00023172" "90" "1093" "0" "1093" "0" "c.1093del" "r.(?)" "p.(Leu365SerfsTer16)" "" "0000946837" "00023172" "90" "1093" "0" "1093" "0" "c.1093del" "r.(?)" "p.(Leu365SerfsTer16)" "" "0000946838" "00023172" "90" "1093" "0" "1093" "0" "c.1093del" "r.(?)" "p.(Leu365SerfsTer16)" "" "0000950267" "00023172" "30" "7371" "18" "7371" "18" "c.7371+18C>T" "r.(=)" "p.(=)" "" "0000950268" "00023172" "30" "1184" "0" "1184" "0" "c.1184G>T" "r.(?)" "p.(Gly395Val)" "" "0000967529" "00023172" "30" "4401" "0" "4401" "0" "c.4401C>T" "r.(?)" "p.(=)" "" "0000980966" "00023172" "30" "7055" "0" "7055" "0" "c.7055C>T" "r.(?)" "p.(Thr2352Ile)" "" "0000980967" "00023172" "50" "7019" "0" "7019" "0" "c.7019T>C" "r.(?)" "p.(Val2340Ala)" "" "0000980968" "00023172" "50" "6893" "0" "6893" "0" "c.6893A>G" "r.(?)" "p.(His2298Arg)" "" "0000980969" "00023172" "50" "6190" "0" "6190" "0" "c.6190G>A" "r.(?)" "p.(Gly2064Arg)" "" "0000980970" "00023172" "10" "5784" "0" "5784" "0" "c.5784T>C" "r.(?)" "p.(=)" "" "0000980971" "00023172" "50" "5510" "0" "5510" "0" "c.5510G>A" "r.(?)" "p.(Arg1837His)" "" "0000980972" "00023172" "50" "4232" "0" "4232" "0" "c.4232A>C" "r.(?)" "p.(Asp1411Ala)" "" "0000980973" "00023172" "30" "4066" "0" "4066" "0" "c.4066T>G" "r.(?)" "p.(Cys1356Gly)" "" "0000980974" "00023172" "30" "3757" "0" "3757" "0" "c.3757C>T" "r.(?)" "p.(Leu1253=)" "" "0000980975" "00023172" "10" "3210" "0" "3210" "0" "c.3210C>G" "r.(?)" "p.(Pro1070=)" "" "0000980976" "00023172" "30" "2887" "0" "2887" "0" "c.2887G>C" "r.(?)" "p.(Val963Leu)" "" "0000980977" "00023172" "50" "2402" "-3" "2402" "-3" "c.2402-3C>T" "r.spl?" "p.?" "" "0000980978" "00023172" "30" "1597" "0" "1597" "0" "c.1597G>A" "r.(?)" "p.(Ala533Thr)" "" "0000980979" "00023172" "30" "273" "13" "273" "13" "c.273+13A>G" "r.(=)" "p.(=)" "" "0001001110" "00023172" "50" "7371" "3" "7371" "3" "c.7371+3A>G" "r.spl?" "p.?" "" "0001001111" "00023172" "30" "4264" "0" "4264" "0" "c.4264G>A" "r.(?)" "p.(Val1422Met)" "" "0001001112" "00023172" "50" "2084" "0" "2084" "0" "c.2084A>G" "r.(?)" "p.(Gln695Arg)" "" "0001001113" "00023172" "30" "1933" "0" "1933" "0" "c.1933A>G" "r.(?)" "p.(Met645Val)" "" "0001001114" "00023172" "50" "122" "0" "122" "0" "c.122A>T" "r.(?)" "p.(Glu41Val)" "" "0001001115" "00023172" "50" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Glu41Lys)" "" "0001015164" "00023172" "30" "4066" "0" "4066" "0" "c.4066T>G" "r.(?)" "p.(Cys1356Gly)" "" "0001015165" "00023172" "30" "3051" "0" "3051" "0" "c.3051T>C" "r.(?)" "p.(Ala1017=)" "" "0001026399" "00023172" "30" "4854" "0" "4854" "0" "c.4854C>T" "r.(?)" "p.(Leu1618=)" "" "0001040050" "00023172" "10" "7407" "0" "7407" "0" "c.7407T>C" "r.(?)" "p.(=)" "" "0001040051" "00023172" "10" "6921" "0" "6921" "0" "c.6921C>T" "r.(?)" "p.(=)" "" "0001040052" "00023172" "30" "6819" "0" "6819" "0" "c.6819G>A" "r.(?)" "p.(Arg2273=)" "" "0001040053" "00023172" "50" "4884" "0" "4884" "0" "c.4884C>A" "r.(?)" "p.(His1628Gln)" "" "0001040054" "00023172" "30" "4125" "0" "4125" "0" "c.4125G>A" "r.(?)" "p.(=)" "" "0001040055" "00023172" "30" "3025" "0" "3025" "0" "c.3025C>T" "r.(?)" "p.(Arg1009Trp)" "" "0001040056" "00023172" "10" "2852" "0" "2852" "0" "c.2852C>T" "r.(?)" "p.(Thr951Met)" "" "0001040057" "00023172" "70" "2404" "0" "2404" "0" "c.2404G>T" "r.(?)" "p.(Gly802*)" "" "0001054862" "00023172" "30" "6195" "0" "6195" "0" "c.6195G>A" "r.(?)" "p.(=)" "" "0001054863" "00023172" "30" "5799" "0" "5799" "0" "c.5799C>T" "r.(?)" "p.(=)" "" "0001054864" "00023172" "10" "5678" "0" "5678" "0" "c.5678G>T" "r.(?)" "p.(Ser1893Ile)" "" "0001054865" "00023172" "50" "5584" "0" "5584" "0" "c.5584C>T" "r.(?)" "p.(Arg1862Cys)" "" "0001054866" "00023172" "50" "4942" "0" "4942" "0" "c.4942C>T" "r.(?)" "p.(Arg1648Cys)" "" "0001054867" "00023172" "30" "4854" "0" "4854" "0" "c.4854C>T" "r.(?)" "p.(Leu1618=)" "" "0001054868" "00023172" "10" "1224" "0" "1224" "0" "c.1224G>T" "r.(?)" "p.(=)" "" "0001054869" "00023172" "50" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.(Arg198Gln)" "" "0001066086" "00023172" "50" "6194" "0" "6194" "0" "c.6194C>G" "r.(?)" "p.(Ala2065Gly)" "" "0001066087" "00023172" "50" "6154" "0" "6154" "0" "c.6154G>A" "r.(?)" "p.(Val2052Ile)" "" "0001066088" "00023172" "50" "5401" "0" "5401" "0" "c.5401G>A" "r.(?)" "p.(Ala1801Thr)" "" "0001066089" "00023172" "50" "2251" "0" "2251" "0" "c.2251G>A" "r.(?)" "p.(Glu751Lys)" "" "0001066090" "00023172" "50" "443" "0" "443" "0" "c.443G>T" "r.(?)" "p.(Arg148Leu)" "" "0001069320" "00023172" "70" "5681" "0" "5681" "0" "c.5681del" "r.(?)" "p.(Pro1894LeufsTer7)" "" "0001069400" "00023172" "70" "5791" "-6" "5791" "-6" "c.5791-6G>A" "r.spl" "p.?" "" "0001069407" "00023172" "50" "1640" "-250" "2332" "250" "c.(1639+1_1640-250)_(2332+250_2333-1)del" "r.?" "p.?" "10i_12i" "0001069487" "00023172" "70" "5485" "-2" "5485" "-2" "c.5485-2A>G" "r.spl" "p.?" "" "0001069793" "00023172" "70" "6707" "0" "6707" "0" "c.6707del" "r.(?)" "p.(Lys2236SerfsTer3)" "" "0001069841" "00023172" "70" "6197" "0" "6197" "0" "c.6197G>A" "r.(?)" "p.(Trp2066Ter)" "" "0001069871" "00023172" "70" "175" "0" "175" "0" "c.175del" "r.(?)" "p.(Val59CysfsTer6)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000155823" "0000356904" "0000292264" "0000648953" "0000292265" "0000648954" "0000292266" "0000648955" "0000292267" "0000648956" "0000292269" "0000648958" "0000305569" "0000669257" "0000305570" "0000669258" "0000305571" "0000669259" "0000319188" "0000701852" "0000375732" "0000787083" "0000376076" "0000787427" "0000444900" "0000946836" "0000444901" "0000946837" "0000444902" "0000946838" "0000474922" "0001069320" "0000475002" "0001069400" "0000475009" "0001069407" "0000475091" "0001069487" "0000475398" "0001069793" "0000475446" "0001069841" "0000475476" "0001069871"