### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ALDH18A1) # 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}}" "ALDH18A1" "aldehyde dehydrogenase 18 family, member A1" "10" "q24.3-q24.6" "unknown" "NG_012258.1" "UD_132118514886" "" "http://www.LOVD.nl/ALDH18A1" "" "1" "9722" "5832" "138250" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/ALDH18A1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-09-13 22:02:09" "00000" "2025-07-08 13:22:38" ## 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}}" "00002364" "ALDH18A1" "transcript variant 1" "002" "NM_002860.3" "" "NP_002851.2" "" "" "" "-242" "3221" "2388" "97416567" "97365686" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{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" "01733" "ARCL3A" "cutis laxa, autosomal recessive, type IIIA (ARCL-3A, De Barsy syndrome)" "AR" "219150" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04332" "DBS;ADCL" "De Barsy syndrome (DBS, cutis laxa, autosomal dominant (ADCL))" "" "" "" "" "" "00006" "2015-09-15 08:14:45" "00006" "2015-12-08 23:59:30" "06067" "SPG9A" "Spastic paraplegia 9A, autosomal dominant" "AD" "601162" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06068" "SPG9B" "Spastic paraplegia 9B, autosomal recessive" "AR" "616586" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06069" "ADCL3" "Cutis laxa, autosomal dominant 3" "AD" "616603" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "ALDH18A1" "00139" "ALDH18A1" "01733" "ALDH18A1" "06067" "ALDH18A1" "06068" "ALDH18A1" "06069" ## Individuals ## Do not remove or alter this header ## ## Count = 20 "{{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}}" "00049909" "" "" "" "1" "" "00006" "{PMID:Fischer-Zirnsak 2015:26320891}, {DOI:Fischer-Zirnsak 2015:10.1016/j.ajhg.2015.08.001}" "2-generation family, 1 affected, unaffected non-carrier parents/sibs" "M" "" "Jordan" ">02y06m" "0" "" "" "" "" "00049913" "" "" "" "1" "" "00006" "{PMID:Fischer-Zirnsak 2015:26320891}, {DOI:Fischer-Zirnsak 2015:10.1016/j.ajhg.2015.08.001}" "2-generation family, 1 affected, unaffected non-carrier parents/sibs" "M" "" "Finland" ">02y11m" "0" "" "" "" "" "00049914" "" "" "" "1" "" "00006" "{PMID:Fischer-Zirnsak 2015:26320891}, {DOI:Fischer-Zirnsak 2015:10.1016/j.ajhg.2015.08.001}" "2-generation family, 1 affected, unaffected non-carrier parents/sibs" "M" "" "Netherlands" ">02y" "0" "" "" "" "" "00049915" "" "" "" "1" "" "00006" "{PMID:Fischer-Zirnsak 2015:26320891}, {DOI:Fischer-Zirnsak 2015:10.1016/j.ajhg.2015.08.001}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" ">06y" "0" "" "" "" "" "00049916" "" "" "" "1" "" "00006" "{PMID:Fischer-Zirnsak 2015:26320891}, {DOI:Fischer-Zirnsak 2015:10.1016/j.ajhg.2015.08.001}" "2-generation family, 1 affected, unaffected non-carrier parents/sibs" "M" "" "Mexico" ">04y" "0" "" "" "" "" "00049917" "" "" "" "1" "" "00006" "{PMID:Fischer-Zirnsak 2015:26320891}, {DOI:Fischer-Zirnsak 2015:10.1016/j.ajhg.2015.08.001}" "2-generation family, 1 affected, unaffected non-carrier parents/sibs" "M" "" "United Arab Emirates" ">13y" "0" "" "" "" "" "00049918" "" "" "" "1" "" "00006" "{PMID:Fischer-Zirnsak 2015:26320891}, {DOI:Fischer-Zirnsak 2015:10.1016/j.ajhg.2015.08.001}" "2-generation family, 1 affected, unaffected non-carrier parents/sibs" "F" "" "United States" ">03y" "0" "" "" "" "" "00049919" "" "" "" "1" "" "00006" "{PMID:Fischer-Zirnsak 2015:26320891}, {DOI:Fischer-Zirnsak 2015:10.1016/j.ajhg.2015.08.001}" "2-generation family, 1 affected, unaffected non-carrier parents/sibs" "M" "" "United States" ">03y" "0" "" "" "" "" "00290186" "" "" "" "90" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290187" "" "" "" "79" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290188" "" "" "" "18" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304275" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00374103" "" "" "" "1" "" "00006" "{PMID:Lefebvre 2021:32732226}" "fetus" "M" "" "France" "" "0" "" "" "" "" "00374595" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4432" "00374651" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2634" "00385509" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "17001521" "00419581" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "8005" "00428057" "" "" "" "1" "" "00006" "{PMID:Kumar 2022:35091571}, {PMID:Yepez 2022:35379322}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Germany" "04y" "0" "" "" "" "Pat80256;R80184" "00465815" "" "" "" "1" "" "00006" "{PMID:Alazami 2016:27023906}" "patient" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam2" "00465816" "" "" "" "1" "" "00006" "{PMID:Alazami 2016:27023906}" "patient" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00049909" "04332" "00049913" "04332" "00049914" "04332" "00049915" "04332" "00049916" "04332" "00049917" "04332" "00049918" "04332" "00049919" "04332" "00290186" "00198" "00290187" "00198" "00290188" "00198" "00304275" "00198" "00374103" "00198" "00374595" "00198" "00374651" "00198" "00385509" "04214" "00419581" "00198" "00428057" "00198" "00465815" "00198" "00465816" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01733, 04214, 04332, 06067, 06068, 06069 ## Count = 16 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Head/Microcephaly}}" "{{Phenotype/Feeding/Problems}}" "{{Phenotype/Growth}}" "{{Phenotype/Hypotonia/Muscular/Generalized}}" "{{Phenotype/Hernia/Inguinal}}" "{{Phenotype/Scoliosis}}" "{{Phenotype/Skin/Wrinkling}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Foot_abnormality/HPO_0001760}}" "{{Phenotype/Development_delay_global/HPO_0001263}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Hypermobility}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Eye/Lens/Cataract}}" "{{Phenotype/Head/Fontanel}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Eye/Movement}}" "{{Phenotype/Diagnosis/Criteria}}" "0000036688" "04332" "00049909" "00006" "Isolated (sporadic)" "02y06m" "initial diagnosis wrinkly skin syndrome (WSS); thin translucent skin, hip dislocation?, adducted thumb, no osteopenia, Wormian bones?, no brain anomalies, no cranial vessel tortuosity, autism?, no brisk reflexes; normal face" "" "microcephaly" "no" "retardation prenatal;retardation postnatal" "generalized" "hernia" "no" "skin premature" "" "" "" "no" "global" "" "joint" "" "" "" "no" "no" "" "" "no strabismus" "" "0000036689" "04332" "00049913" "00006" "Isolated (sporadic)" "02y11m" "initial diagnosis De Barsy syndrome (DBS); thin translucent skin, hip dislocation, adducted thumb, osteopenia, Wormian bones, brain anomalies, no cranial vessel tortuosity, autism?, brisk reflexes, foramen magnum stenosis; dysmorphic face (HP:0001999)" "" "no" "problems" "retardation prenatal;retardation postnatal" "generalized" "hernia" "scoliosis" "skin premature" "" "" "" "club (talipes equinovarus)" "global" "" "joint" "" "" "" "cataract" "closure delayed" "" "" "normal" "" "0000036690" "04332" "00049914" "00006" "Isolated (sporadic)" "02y" "initial diagnosis De Barsy syndrome (DBS); thin translucent skin, no hip dislocation, no adducted thumb, no osteopenia, Wormian bones, no brain anomalies, cranial vessel tortuosity, autism, brisk reflexes, oramen magnum stenosis, shallow sella turcica; dysmorphic face (HP:0001999)" "" "no" "problems" "retardation prenatal" "generalized" "hernia" "no" "skin premature" "" "" "" "no" "global" "" "joint" "" "" "" "cataract" "closure delayed" "" "" "no strabismus" "" "0000036691" "04332" "00049915" "00006" "Isolated (sporadic)" "06y" "initial diagnosis connective tissue disorder; thin translucent skin, no hip dislocation, no adducted thumb, no osteopenia, no Wormian bones, no brain anomalies, cranial vessel tortuosity, no autism, brisk reflexes?, os odontoideum, disharmonic bone age; dysmorphic face (HP:0001999)" "" "microcephaly" "problems" "retardation prenatal;retardation postnatal" "generalized" "hernia" "no" "skin premature" "" "" "" "no" "global" "" "joint" "" "" "" "cataract" "no" "" "" "normal" "" "0000036692" "04332" "00049916" "00006" "Isolated (sporadic)" "04y" "initial diagnosis De Barsy syndrome (DBS); thin translucent skin, hip dislocation, adducted thumb, osteopenia, no Wormian bones, no brain anomalies, no cranial vessel tortuosity, autism?, brisk reflexes; dysmorphic face (HP:0001999)" "" "microcephaly" "?" "retardation prenatal;retardation postnatal" "generalized" "no" "scoliosis" "skin premature" "" "" "" "club (talipes equinovarus)" "global" "" "joint" "" "" "" "cataract" "closure delayed" "" "" "normal" "" "0000036693" "04332" "00049917" "00006" "Isolated (sporadic)" "13y" "initial diagnosis De Barsy syndrome (DBS); thin translucent skin, hip dislocation, adducted thumb, no osteopenia, no Wormian bones, brain anomalies?, no cranial vessel tortuosity, autism?, brisk reflexes?; dysmorphic face (HP:0001999)" "" "microcephaly" "?" "retardation prenatal;retardation postnatal" "?" "hernia" "scoliosis" "skin premature" "" "" "" "club (talipes equinovarus)" "global" "" "joint" "" "" "" "cataract" "?" "" "" "normal" "" "0000036694" "04332" "00049918" "00006" "Isolated (sporadic)" "03y" "initial diagnosis De Barsy syndrome (DBS); thin translucent skin, hip dislocation, no adducted thumb, osteopenia?, no Wormian bones, no brain anomalies, cranial vessel tortuosity, autism?, no brisk reflexes; dysmorphic face (HP:0001999)" "" "microcephaly" "problems" "retardation prenatal;retardation postnatal" "generalized" "no" "no" "skin premature" "" "" "" "no" "global" "" "joint" "" "" "" "cataract" "no" "" "" "normal" "" "0000036695" "04332" "00049919" "00006" "Isolated (sporadic)" "03y" "initial diagnosis cutis laxa; thin translucent skin, hip dislocation, adducted thumb, osteopenia, no Wormian bones, no brain anomalies, cranial vessel tortuosity, no autism, no brisk reflexes; dysmorphic face (HP:0001999)" "" "no" "problems" "retardation prenatal;retardation postnatal" "generalized" "hernia" "no" "skin premature" "" "" "" "no" "global" "" "joint" "" "" "" "cataract" "closure delayed" "" "" "no strabismus" "" "0000269314" "00198" "00374103" "00006" "Familial, autosomal recessive" "<0d" "27w-fetus, ultrasound intrauterine growth retardation, shortened long bones, corpus callosum agenesis, cerebellar hypoplasia; autopsy Cutis laxa, corpus callosum agenesis, mineralisation delay; Corpus callosum agenesis and gyration delay previously undescribed" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital abnormalities" "" "" "0000269805" "00198" "00374595" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "spasticity" "" "" "0000269861" "00198" "00374651" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "atrophy of corpus callosum" "" "" "0000279304" "04214" "00385509" "00000" "Unknown" "" "" "5y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "congenital cataracts" "" "" "0000310862" "00198" "00419581" "02300" "Isolated (sporadic)" "1y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental abnormality" "" "" "0000319004" "00198" "00428057" "00006" "Familial, autosomal recessive" "04y" "see paper; ..., 4y-died pneumonia/respiratory failure; intrauterine growth retardation; birth 39w, weight 2640 g, length 49 cm, OFC 33.5 cm, bilateral congenital cataract, multiple small haemangiomas; muscular hypotonia, developmental delay, severe failure to thrive, microcephaly; MRI brain hypoplasia corpus callosum, lack of insular opercularization, reduced myelination; drug-resistant epilepsy; 2y6m muscle biopsy normal; severe global developmental delay, dyskinetic movement disorder, epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351262" "00198" "00465815" "00006" "Familial, autosomal recessive" "" "see paper; ..., Cutis laxa, visible veins, sparse hair and facial dysmorphism (progeroid appearance, prominent forehead, midface hypoplasia, prominent mandible, an upturned nose with hypoplastic alae nasi and large low-set ears) cataract, laryngomalacia, seizure disorder, severe global developmental delay, hypotonia, feeding difficulties and poor postnatal growth, scoliosis, inguinal hernia, out-turned lower extremities, talipes equinovarus, atrial septal defect secundum" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ARCL3A" "joint laxity" "" "" "0000351263" "00198" "00465816" "00006" "Familial, autosomal recessive" "" "see paper; ..., Skin and joint laxity, facial dysmorphism (triangular face, congenital cataract, hypertelorism, short nose, low-set ears, long philtrum, and small chin), Wormian bones, camptodactyly of the thumbs, genu valgum, ventricular septal defect" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ARCL3A" "joint laxity" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 20 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000049830" "00049909" "1" "00006" "00006" "2015-09-15 08:10:09" "" "" "SEQ" "DNA" "" "" "0000049834" "00049913" "1" "00006" "00006" "2015-09-15 08:10:09" "" "" "SEQ" "DNA" "" "" "0000049835" "00049914" "1" "00006" "00006" "2015-09-15 08:10:09" "" "" "SEQ" "DNA" "" "" "0000049836" "00049915" "1" "00006" "00006" "2015-09-15 08:10:09" "" "" "SEQ" "DNA" "" "" "0000049837" "00049916" "1" "00006" "00006" "2015-09-15 08:10:09" "" "" "SEQ" "DNA" "" "" "0000049838" "00049917" "1" "00006" "00006" "2015-09-15 08:10:09" "" "" "SEQ" "DNA" "" "" "0000049839" "00049918" "1" "00006" "00006" "2015-09-15 08:10:09" "" "" "SEQ" "DNA" "" "" "0000049840" "00049919" "1" "00006" "00006" "2015-09-15 08:10:09" "" "" "SEQ" "DNA" "" "" "0000291354" "00290186" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291355" "00290187" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291356" "00290188" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305404" "00304275" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000375296" "00374103" "1" "00006" "00006" "2021-05-23 14:33:57" "" "" "SEQ-NG" "DNA" "" "WES" "0000375789" "00374595" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375845" "00374651" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000386738" "00385509" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "144 genes panel tested" "0000420885" "00419581" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429469" "00428057" "1" "00006" "00006" "2022-12-20 09:11:06" "00006" "2022-12-20 11:10:57" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WGS" "0000467466" "00465815" "1" "00006" "00006" "2025-06-07 12:17:17" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000467467" "00465816" "1" "00006" "00006" "2025-06-07 12:17:17" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{geneid}}" "0000049830" "ALDH18A1" "0000049830" "PYCR1" "0000049834" "ALDH18A1" "0000049834" "PYCR1" "0000049835" "ALDH18A1" "0000049835" "PYCR1" "0000049836" "ALDH18A1" "0000049836" "PYCR1" "0000049837" "ALDH18A1" "0000049837" "PYCR1" "0000049838" "ALDH18A1" "0000049838" "PYCR1" "0000049839" "ALDH18A1" "0000049839" "PYCR1" "0000049840" "ALDH18A1" "0000049840" "PYCR1" "0000375296" "ALDH18A1" "0000375789" "ALDH18A1" "0000375845" "ALDH18A1" "0000386738" "ALDH18A1" "0000429469" "ALDH18A1" ## 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 = 89 "{{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}}" "0000078746" "11" "90" "10" "97397085" "97397085" "subst" "0" "00006" "ALDH18A1_000001" "g.97397085G>A" "" "{PMID:Fischer-Zirnsak 2015:26320891}, {DOI:Fischer-Zirnsak 2015:10.1016/j.ajhg.2015.08.001}" "" "" "" "De novo" "" "" "0" "" "" "g.95637328G>A" "" "pathogenic" "" "0000078748" "11" "90" "10" "97397085" "97397085" "subst" "0" "00006" "ALDH18A1_000001" "g.97397085G>A" "" "{PMID:Fischer-Zirnsak 2015:26320891}, {DOI:Fischer-Zirnsak 2015:10.1016/j.ajhg.2015.08.001}" "" "" "" "De novo" "" "" "0" "" "" "g.95637328G>A" "" "pathogenic" "" "0000078749" "1" "90" "10" "97397085" "97397085" "subst" "0" "00006" "ALDH18A1_000001" "g.97397085G>A" "" "{PMID:Fischer-Zirnsak 2015:26320891}, {DOI:Fischer-Zirnsak 2015:10.1016/j.ajhg.2015.08.001}" "" "" "" "De novo" "" "" "0" "" "" "g.95637328G>A" "" "pathogenic" "" "0000078750" "11" "90" "10" "97397084" "97397084" "subst" "0" "00006" "ALDH18A1_000002" "g.97397084C>A" "" "{PMID:Fischer-Zirnsak 2015:26320891}, {DOI:Fischer-Zirnsak 2015:10.1016/j.ajhg.2015.08.001}" "" "" "no paternal DNA" "Unknown" "" "" "0" "" "" "g.95637327C>A" "" "pathogenic" "" "0000078751" "1" "90" "10" "97397084" "97397084" "subst" "0" "00006" "ALDH18A1_000002" "g.97397084C>A" "" "{PMID:Fischer-Zirnsak 2015:26320891}, {DOI:Fischer-Zirnsak 2015:10.1016/j.ajhg.2015.08.001}" "" "" "" "De novo" "" "" "0" "" "" "g.95637327C>A" "" "pathogenic" "" "0000078752" "1" "90" "10" "97397084" "97397084" "subst" "0" "00006" "ALDH18A1_000003" "g.97397084C>T" "" "{PMID:Fischer-Zirnsak 2015:26320891}, {DOI:Fischer-Zirnsak 2015:10.1016/j.ajhg.2015.08.001}" "" "" "no DNA parents available" "Unknown" "" "" "0" "" "" "g.95637327C>T" "" "pathogenic" "" "0000078753" "11" "90" "10" "97397084" "97397084" "subst" "0" "00006" "ALDH18A1_000003" "g.97397084C>T" "" "{PMID:Fischer-Zirnsak 2015:26320891}, {DOI:Fischer-Zirnsak 2015:10.1016/j.ajhg.2015.08.001}" "" "" "" "De novo" "" "" "0" "" "" "g.95637327C>T" "" "pathogenic" "" "0000078754" "1" "90" "10" "97397084" "97397084" "subst" "0" "00006" "ALDH18A1_000003" "g.97397084C>T" "" "{PMID:Fischer-Zirnsak 2015:26320891}, {DOI:Fischer-Zirnsak 2015:10.1016/j.ajhg.2015.08.001}" "" "" "" "De novo" "" "" "0" "" "" "g.95637327C>T" "" "pathogenic" "" "0000249553" "0" "30" "10" "97392809" "97392809" "subst" "2.03398E-5" "02325" "ALDH18A1_000010" "g.97392809A>G" "" "" "" "ALDH18A1(NM_002860.4):c.718-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95633052A>G" "" "likely benign" "" "0000250114" "0" "10" "10" "97387248" "97387248" "subst" "0.0230728" "02329" "ALDH18A1_000014" "g.97387248A>G" "" "" "" "ALDH18A1(NM_002860.4):c.1029T>C (p.I343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95627491A>G" "" "benign" "" "0000259445" "0" "30" "10" "97366703" "97366703" "subst" "0.00455001" "02325" "ALDH18A1_000004" "g.97366703G>A" "" "" "" "ALDH18A1(NM_002860.3):c.2207-3C>T, ALDH18A1(NM_002860.4):c.2207-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95606946G>A" "" "likely benign" "" "0000260051" "0" "10" "10" "97371146" "97371146" "subst" "0.0229924" "02329" "ALDH18A1_000005" "g.97371146G>A" "" "" "" "ALDH18A1(NM_002860.4):c.1977C>T (p.S659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95611389G>A" "" "benign" "" "0000260052" "0" "10" "10" "97388162" "97388162" "subst" "0.105317" "02329" "ALDH18A1_000008" "g.97388162G>A" "" "" "" "ALDH18A1(NM_002860.4):c.896C>T (p.T299I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95628405G>A" "" "benign" "" "0000260738" "0" "90" "10" "97388250" "97388250" "subst" "0" "02326" "ALDH18A1_000009" "g.97388250C>G" "" "" "" "ALDH18A1(NM_001323413.1):c.809-1G>C, ALDH18A1(NM_002860.4):c.809-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95628493C>G" "" "pathogenic" "" "0000262201" "0" "30" "10" "97366703" "97366703" "subst" "0.00455001" "01943" "ALDH18A1_000004" "g.97366703G>A" "" "" "" "ALDH18A1(NM_002860.3):c.2207-3C>T, ALDH18A1(NM_002860.4):c.2207-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95606946G>A" "" "likely benign" "" "0000321698" "0" "30" "10" "97386497" "97386497" "subst" "0.0173248" "01804" "ALDH18A1_000007" "g.97386497G>T" "" "" "" "ALDH18A1(NM_001017423.1):c.1109C>A (p.(Ser370Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95626740G>T" "" "likely benign" "" "0000321699" "0" "30" "10" "97392809" "97392809" "subst" "2.03398E-5" "01804" "ALDH18A1_000010" "g.97392809A>G" "" "" "" "ALDH18A1(NM_002860.4):c.718-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95633052A>G" "" "likely benign" "" "0000342191" "0" "50" "10" "97393367" "97393367" "subst" "1.2192E-5" "02327" "ALDH18A1_000013" "g.97393367G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95633610G>A" "" "VUS" "" "0000342766" "0" "50" "10" "97386488" "97386488" "subst" "0" "02327" "ALDH18A1_000012" "g.97386488C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95626731C>A" "" "VUS" "" "0000350781" "0" "90" "10" "97388250" "97388250" "subst" "0" "02327" "ALDH18A1_000009" "g.97388250C>G" "" "" "" "ALDH18A1(NM_001323413.1):c.809-1G>C, ALDH18A1(NM_002860.4):c.809-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95628493C>G" "" "pathogenic" "" "0000541694" "0" "50" "10" "97366662" "97366662" "subst" "4.06517E-6" "01943" "ALDH18A1_000015" "g.97366662G>A" "" "" "" "ALDH18A1(NM_001323413.1):c.2245C>T (p.R749W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95606905G>A" "" "VUS" "" "0000541696" "0" "10" "10" "97369939" "97369939" "subst" "0.420427" "02325" "ALDH18A1_000016" "g.97369939C>T" "" "" "" "ALDH18A1(NM_002860.4):c.2206+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95610182C>T" "" "benign" "" "0000541697" "0" "10" "10" "97369939" "97369939" "subst" "0.420427" "02329" "ALDH18A1_000016" "g.97369939C>T" "" "" "" "ALDH18A1(NM_002860.4):c.2206+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95610182C>T" "" "benign" "" "0000541699" "0" "30" "10" "97371177" "97371177" "subst" "6.90411E-5" "01943" "ALDH18A1_000018" "g.97371177T>C" "" "" "" "ALDH18A1(NM_001323413.1):c.1946A>G (p.K649R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95611420T>C" "" "likely benign" "" "0000541700" "0" "30" "10" "97376243" "97376243" "subst" "4.63516E-5" "01943" "ALDH18A1_000019" "g.97376243G>A" "" "" "" "ALDH18A1(NM_001323413.1):c.1596C>T (p.A532=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95616486G>A" "" "likely benign" "" "0000541701" "0" "30" "10" "97380941" "97380941" "subst" "0.000284338" "01943" "ALDH18A1_000020" "g.97380941G>A" "" "" "" "ALDH18A1(NM_001323413.1):c.1314C>T (p.I438=), ALDH18A1(NM_002860.4):c.1314C>T (p.I438=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95621184G>A" "" "likely benign" "" "0000541703" "0" "50" "10" "97380991" "97380991" "subst" "7.75396E-5" "01943" "ALDH18A1_000006" "g.97380991G>C" "" "" "" "ALDH18A1(NM_001323413.1):c.1264C>G (p.L422V), ALDH18A1(NM_002860.4):c.1264C>G (p.L422V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95621234G>C" "" "VUS" "" "0000541706" "0" "70" "10" "97392769" "97392769" "subst" "0" "02327" "ALDH18A1_000023" "g.97392769C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95633012C>T" "" "likely pathogenic" "" "0000541707" "0" "90" "10" "97392770" "97392770" "subst" "8.13028E-6" "02329" "ALDH18A1_000024" "g.97392770G>A" "" "" "" "ALDH18A1(NM_002860.4):c.754C>T (p.R252*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95633013G>A" "" "pathogenic" "" "0000541708" "0" "30" "10" "97396916" "97396916" "subst" "0.000325269" "01943" "ALDH18A1_000025" "g.97396916G>A" "" "" "" "ALDH18A1(NM_001323413.1):c.492C>T (p.A164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95637159G>A" "" "likely benign" "" "0000541709" "0" "50" "10" "97402820" "97402820" "subst" "1.62545E-5" "02327" "ALDH18A1_000026" "g.97402820C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95643063C>T" "" "VUS" "" "0000541710" "0" "50" "10" "97402889" "97402889" "subst" "0" "02329" "ALDH18A1_000027" "g.97402889G>A" "" "" "" "ALDH18A1(NM_002860.4):c.163C>T (p.R55C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95643132G>A" "" "VUS" "" "0000612824" "0" "50" "10" "97373555" "97373555" "subst" "0.000158416" "01943" "ALDH18A1_000028" "g.97373555C>T" "" "" "" "ALDH18A1(NM_001323413.1):c.1867G>A (p.D623N), ALDH18A1(NM_002860.4):c.1867G>A (p.(Asp623Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95613798C>T" "" "VUS" "" "0000612825" "0" "50" "10" "97393376" "97393376" "subst" "0.000142251" "02325" "ALDH18A1_000030" "g.97393376C>G" "" "" "" "ALDH18A1(NM_001323413.1):c.589G>C (p.E197Q), ALDH18A1(NM_002860.4):c.589G>C (p.E197Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95633619C>G" "" "VUS" "" "0000612826" "0" "50" "10" "97397114" "97397114" "subst" "2.03207E-5" "02327" "ALDH18A1_000031" "g.97397114C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95637357C>T" "" "VUS" "" "0000612827" "0" "50" "10" "97413164" "97413164" "subst" "0" "02327" "ALDH18A1_000032" "g.97413164T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95653407T>C" "" "VUS" "" "0000622467" "0" "50" "10" "97380885" "97380885" "subst" "0.000247744" "01943" "ALDH18A1_000029" "g.97380885C>A" "" "" "" "ALDH18A1(NM_001323413.1):c.1370G>T (p.R457L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95621128C>A" "" "VUS" "" "0000648043" "1" "30" "10" "97371146" "97371146" "subst" "0.0229924" "03575" "ALDH18A1_000005" "g.97371146G>A" "90/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "90 heterozygous, no homozygous; {DB:CLININrs1804934}" "Germline" "" "rs1804934" "0" "" "" "g.95611389G>A" "" "likely benign" "" "0000648044" "1" "30" "10" "97386497" "97386497" "subst" "0.0173248" "03575" "ALDH18A1_000007" "g.97386497G>T" "79/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "79 heterozygous; {DB:CLININrs3765571}" "Germline" "" "rs3765571" "0" "" "" "g.95626740G>T" "" "likely benign" "" "0000648045" "1" "30" "10" "97387248" "97387248" "subst" "0.0230728" "03575" "ALDH18A1_000014" "g.97387248A>G" "18/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "18 heterozygous, no homozygous; {DB:CLININrs41291566}" "Germline" "" "rs41291566" "0" "" "" "g.95627491A>G" "" "likely benign" "" "0000669092" "3" "30" "10" "97386497" "97386497" "subst" "0.0173248" "03575" "ALDH18A1_000007" "g.97386497G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs3765571}" "Germline" "" "rs3765571" "0" "" "" "g.95626740G>T" "" "likely benign" "" "0000678965" "0" "90" "10" "97380934" "97380934" "subst" "2.03102E-5" "01943" "ALDH18A1_000033" "g.97380934G>A" "" "" "" "ALDH18A1(NM_001323413.1):c.1321C>T (p.R441*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723035" "0" "30" "10" "97366675" "97366675" "subst" "0.00137445" "01943" "ALDH18A1_000034" "g.97366675C>T" "" "" "" "ALDH18A1(NM_001323413.1):c.2232G>A (p.S744=), ALDH18A1(NM_002860.4):c.2232G>A (p.S744=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723036" "0" "70" "10" "97370017" "97370017" "subst" "1.21922E-5" "01943" "ALDH18A1_000035" "g.97370017C>G" "" "" "" "ALDH18A1(NM_001323413.1):c.2143G>C (p.D715H), ALDH18A1(NM_002860.4):c.2143G>C (p.D715H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000723037" "0" "30" "10" "97387282" "97387282" "subst" "0" "01943" "ALDH18A1_000036" "g.97387282T>C" "" "" "" "ALDH18A1(NM_001323413.1):c.995A>G (p.H332R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723038" "0" "90" "10" "97388250" "97388250" "subst" "0" "01943" "ALDH18A1_000009" "g.97388250C>G" "" "" "" "ALDH18A1(NM_001323413.1):c.809-1G>C, ALDH18A1(NM_002860.4):c.809-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723039" "0" "30" "10" "97393376" "97393376" "subst" "0.000142251" "01943" "ALDH18A1_000030" "g.97393376C>G" "" "" "" "ALDH18A1(NM_001323413.1):c.589G>C (p.E197Q), ALDH18A1(NM_002860.4):c.589G>C (p.E197Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723040" "0" "30" "10" "97402895" "97402895" "subst" "0" "01943" "ALDH18A1_000037" "g.97402895G>C" "" "" "" "ALDH18A1(NM_001323413.1):c.157C>G (p.L53V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723041" "0" "30" "10" "97413131" "97413131" "subst" "4.87266E-5" "01943" "ALDH18A1_000038" "g.97413131A>G" "" "" "" "ALDH18A1(NM_001323413.1):c.4T>C (p.L2=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000786637" "1" "90" "10" "97380982" "97380982" "subst" "8.95561E-5" "00006" "ALDH18A1_000039" "g.97380982G>A" "" "{PMID:Lefebvre 2021:32732226}" "" "" "" "Germline" "" "" "0" "" "" "g.95621225G>A" "" "pathogenic" "" "0000786676" "2" "70" "10" "97402875" "97402875" "del" "0" "00006" "ALDH18A1_000040" "g.97402875del" "" "{PMID:Lefebvre 2021:32732226}" "" "" "" "Germline" "" "" "0" "" "" "g.95643118del" "" "likely pathogenic" "" "0000787140" "3" "50" "10" "97397115" "97397115" "subst" "0" "00006" "ALDH18A1_000042" "g.97397115G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.95637358G>A" "" "VUS" "" "0000787196" "3" "50" "10" "97366556" "97366556" "subst" "0" "00006" "ALDH18A1_000041" "g.97366556T>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs765966176" "0" "" "" "g.95606799T>C" "" "VUS" "" "0000804650" "0" "50" "10" "97366599" "97366599" "subst" "2.03227E-5" "01943" "ALDH18A1_000043" "g.97366599C>T" "" "" "" "ALDH18A1(NM_001323413.1):c.2308G>A (p.V770M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804651" "0" "50" "10" "97366643" "97366643" "subst" "0" "01943" "ALDH18A1_000044" "g.97366643T>C" "" "" "" "ALDH18A1(NM_001323413.1):c.2264A>G (p.E755G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804652" "0" "50" "10" "97369966" "97369966" "subst" "4.06345E-6" "02327" "ALDH18A1_000045" "g.97369966G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804653" "0" "50" "10" "97376337" "97376337" "subst" "4.27142E-6" "01943" "ALDH18A1_000046" "g.97376337A>G" "" "" "" "ALDH18A1(NM_001323413.1):c.1502T>C (p.L501S), ALDH18A1(NM_002860.3):c.1502T>C (p.(Leu501Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000814418" "0" "50" "10" "97380982" "97380982" "subst" "8.95561E-5" "00000" "ALDH18A1_000039" "g.97380982G>A" "" "{PMID:Lenassi 2020:31848469}" "" "ALDH18A1 c.1273C>T p.(Arg425Cys) het" "heterozygous" "Germline" "?" "" "0" "" "" "g.95621225G>A" "" "VUS" "ACMG" "0000852644" "0" "30" "10" "97387250" "97387250" "subst" "1.21882E-5" "01943" "ALDH18A1_000047" "g.97387250T>C" "" "" "" "ALDH18A1(NM_001323413.1):c.1027A>G (p.I343V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862101" "0" "30" "10" "97380947" "97380947" "subst" "0.00126344" "01943" "ALDH18A1_000021" "g.97380947C>T" "" "" "" "ALDH18A1(NM_001323413.1):c.1308G>A (p.L436=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000881244" "0" "70" "10" "97392780" "97392780" "subst" "0" "02300" "ALDH18A1_000048" "g.97392780G>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PS2, PM2, PP2, PP3" "De novo" "" "" "0" "" "" "g.95633023G>T" "" "likely pathogenic (dominant)" "ACMG" "0000889352" "0" "50" "10" "97366631" "97366631" "subst" "3.65761E-5" "02325" "ALDH18A1_000049" "g.97366631G>A" "" "" "" "ALDH18A1(NM_002860.4):c.2276C>T (p.T759I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889353" "0" "70" "10" "97371129" "97371129" "subst" "0" "02326" "ALDH18A1_000050" "g.97371129C>A" "" "" "" "ALDH18A1(NM_002860.4):c.1994G>T (p.R665L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000889354" "0" "50" "10" "97380867" "97380867" "subst" "0" "02325" "ALDH18A1_000051" "g.97380867T>A" "" "" "" "ALDH18A1(NM_002860.4):c.1388A>T (p.(Asn463Ile), p.N463I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889355" "0" "50" "10" "97380991" "97380991" "subst" "7.75396E-5" "02325" "ALDH18A1_000006" "g.97380991G>C" "" "" "" "ALDH18A1(NM_001323413.1):c.1264C>G (p.L422V), ALDH18A1(NM_002860.4):c.1264C>G (p.L422V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889356" "0" "50" "10" "97392764" "97392764" "subst" "0" "02325" "ALDH18A1_000052" "g.97392764C>G" "" "" "" "ALDH18A1(NM_002860.4):c.760G>C (p.A254P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000908969" "11" "90" "10" "97373558" "97373558" "subst" "8.12447E-6" "00006" "ALDH18A1_000053" "g.97373558G>A" "" "{PMID:Kremer 2017:28604674}, {PMID:Yepez 2022:35379322}" "" "" "variant suspected to affect translation or protein stability." "Germline" "" "" "0" "" "" "g.95613801G>A" "" "likely pathogenic (recessive)" "" "0000908970" "21" "90" "10" "97371135" "97371135" "subst" "0" "00006" "ALDH18A1_000054" "g.97371135G>T" "" "{PMID:Kremer 2017:28604674}, {PMID:Yepez 2022:35379322}" "" "" "" "Germline" "" "" "0" "" "" "g.95611378G>T" "" "pathogenic (recessive)" "" "0000929737" "0" "30" "10" "97366703" "97366703" "subst" "0.00455001" "02329" "ALDH18A1_000004" "g.97366703G>A" "" "" "" "ALDH18A1(NM_002860.3):c.2207-3C>T, ALDH18A1(NM_002860.4):c.2207-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965956" "0" "30" "10" "97380941" "97380941" "subst" "0.000284338" "02326" "ALDH18A1_000020" "g.97380941G>A" "" "" "" "ALDH18A1(NM_001323413.1):c.1314C>T (p.I438=), ALDH18A1(NM_002860.4):c.1314C>T (p.I438=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979251" "0" "70" "10" "97370017" "97370017" "subst" "1.21922E-5" "02329" "ALDH18A1_000035" "g.97370017C>G" "" "" "" "ALDH18A1(NM_001323413.1):c.2143G>C (p.D715H), ALDH18A1(NM_002860.4):c.2143G>C (p.D715H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000979252" "0" "50" "10" "97370548" "97370548" "subst" "0" "01804" "ALDH18A1_000055" "g.97370548C>T" "" "" "" "ALDH18A1(NM_002860.4):c.2110+465G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979253" "0" "50" "10" "97380867" "97380867" "subst" "0" "01804" "ALDH18A1_000051" "g.97380867T>A" "" "" "" "ALDH18A1(NM_002860.4):c.1388A>T (p.(Asn463Ile), p.N463I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979254" "0" "50" "10" "97380904" "97380904" "subst" "3.24918E-5" "01804" "ALDH18A1_000056" "g.97380904C>T" "" "" "" "ALDH18A1(NM_002860.4):c.1351G>A (p.(Val451Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979255" "0" "50" "10" "97387240" "97387240" "subst" "4.0623E-6" "01804" "ALDH18A1_000057" "g.97387240C>T" "" "" "" "ALDH18A1(NM_002860.4):c.1037G>A (p.(Gly346Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979256" "0" "30" "10" "97409288" "97409288" "subst" "0" "01804" "ALDH18A1_000058" "g.97409288T>A" "" "" "" "ALDH18A1(NM_002860.4):c.88+3759A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979257" "0" "70" "10" "97413046" "97413046" "subst" "8.1213E-6" "01804" "ALDH18A1_000059" "g.97413046C>T" "" "" "" "ALDH18A1(NM_002860.4):c.88+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000979258" "0" "50" "10" "97413047" "97413047" "subst" "1.2182E-5" "01804" "ALDH18A1_000060" "g.97413047G>A" "" "" "" "ALDH18A1(NM_002860.4):c.88C>T (p.(His30Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998619" "0" "70" "10" "97369984" "97369984" "subst" "6.90821E-5" "01804" "ALDH18A1_000061" "g.97369984G>A" "" "" "" "ALDH18A1(NM_002860.3):c.2176C>T (p.(Arg726Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000998620" "0" "30" "10" "97371107" "97371107" "subst" "0" "01804" "ALDH18A1_000062" "g.97371107T>A" "" "" "" "ALDH18A1(NM_002860.3):c.2016A>T (p.(Glu672Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998621" "0" "50" "10" "97373851" "97373851" "subst" "0" "01804" "ALDH18A1_000063" "g.97373851C>A" "" "" "" "ALDH18A1(NM_002860.3):c.1673G>T (p.(Arg558Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998622" "0" "50" "10" "97376337" "97376337" "subst" "4.27142E-6" "01804" "ALDH18A1_000046" "g.97376337A>G" "" "" "" "ALDH18A1(NM_001323413.1):c.1502T>C (p.L501S), ALDH18A1(NM_002860.3):c.1502T>C (p.(Leu501Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998623" "0" "50" "10" "97413134" "97413134" "subst" "0" "01804" "ALDH18A1_000064" "g.97413134T>C" "" "" "" "ALDH18A1(NM_002860.3):c.1A>G (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038116" "0" "50" "10" "97373555" "97373555" "subst" "0.000158416" "01804" "ALDH18A1_000028" "g.97373555C>T" "" "" "" "ALDH18A1(NM_001323413.1):c.1867G>A (p.D623N), ALDH18A1(NM_002860.4):c.1867G>A (p.(Asp623Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038117" "0" "50" "10" "97373558" "97373558" "subst" "8.12447E-6" "01804" "ALDH18A1_000053" "g.97373558G>A" "" "" "" "ALDH18A1(NM_002860.4):c.1864C>T (p.(Arg622Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038118" "0" "50" "10" "97386506" "97386506" "subst" "1.21832E-5" "01804" "ALDH18A1_000065" "g.97386506A>G" "" "" "" "ALDH18A1(NM_002860.4):c.1106T>C (p.(Met369Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045278" "3" "90" "10" "97397165" "97397165" "subst" "0" "00006" "ALDH18A1_000066" "g.97397165T>C" "" "{PMID:Alazami 2016:27023906}" "" "" "" "Germline" "" "" "0" "" "" "g.95637408T>C" "" "pathogenic (recessive)" "" "0001045279" "3" "90" "10" "97402801" "97402801" "subst" "1.2193E-5" "00006" "ALDH18A1_000067" "g.97402801C>T" "" "{PMID:Alazami 2016:27023906}" "" "" "" "Germline" "" "" "0" "" "" "g.95643044C>T" "" "pathogenic (recessive)" "" "0001046257" "0" "30" "10" "97366675" "97366675" "subst" "0.00137445" "02326" "ALDH18A1_000034" "g.97366675C>T" "" "" "" "ALDH18A1(NM_001323413.1):c.2232G>A (p.S744=), ALDH18A1(NM_002860.4):c.2232G>A (p.S744=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 ALDH18A1 ## Count = 89 "{{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}}" "0000078746" "00002364" "90" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(Arg138Trp)" "4" "0000078748" "00002364" "90" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(Arg138Trp)" "4" "0000078749" "00002364" "90" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(Arg138Trp)" "4" "0000078750" "00002364" "90" "413" "0" "413" "0" "c.413G>T" "r.(?)" "p.(Arg138Leu)" "4" "0000078751" "00002364" "90" "413" "0" "413" "0" "c.413G>T" "r.(?)" "p.(Arg138Leu)" "4" "0000078752" "00002364" "90" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Arg138Gln)" "4" "0000078753" "00002364" "90" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Arg138Gln)" "4" "0000078754" "00002364" "90" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Arg138Gln)" "4" "0000249553" "00002364" "30" "718" "-3" "718" "-3" "c.718-3T>C" "r.spl?" "p.?" "" "0000250114" "00002364" "10" "1029" "0" "1029" "0" "c.1029T>C" "r.(?)" "p.(Ile343=)" "" "0000259445" "00002364" "30" "2207" "-3" "2207" "-3" "c.2207-3C>T" "r.spl?" "p.?" "" "0000260051" "00002364" "10" "1977" "0" "1977" "0" "c.1977C>T" "r.(?)" "p.(Ser659=)" "" "0000260052" "00002364" "10" "896" "0" "896" "0" "c.896C>T" "r.(?)" "p.(Thr299Ile)" "" "0000260738" "00002364" "90" "809" "-1" "809" "-1" "c.809-1G>C" "r.spl?" "p.?" "" "0000262201" "00002364" "30" "2207" "-3" "2207" "-3" "c.2207-3C>T" "r.spl?" "p.?" "" "0000321698" "00002364" "30" "1115" "0" "1115" "0" "c.1115C>A" "r.(?)" "p.(Ser372Tyr)" "" "0000321699" "00002364" "30" "718" "-3" "718" "-3" "c.718-3T>C" "r.spl?" "p.?" "" "0000342191" "00002364" "50" "598" "0" "598" "0" "c.598C>T" "r.(?)" "p.(Arg200Cys)" "" "0000342766" "00002364" "50" "1124" "0" "1124" "0" "c.1124G>T" "r.(?)" "p.(Arg375Met)" "" "0000350781" "00002364" "90" "809" "-1" "809" "-1" "c.809-1G>C" "r.spl?" "p.?" "" "0000541694" "00002364" "50" "2245" "0" "2245" "0" "c.2245C>T" "r.(?)" "p.(Arg749Trp)" "" "0000541696" "00002364" "10" "2206" "15" "2206" "15" "c.2206+15G>A" "r.(=)" "p.(=)" "" "0000541697" "00002364" "10" "2206" "15" "2206" "15" "c.2206+15G>A" "r.(=)" "p.(=)" "" "0000541699" "00002364" "30" "1946" "0" "1946" "0" "c.1946A>G" "r.(?)" "p.(Lys649Arg)" "" "0000541700" "00002364" "30" "1596" "0" "1596" "0" "c.1596C>T" "r.(?)" "p.(Ala532=)" "" "0000541701" "00002364" "30" "1314" "0" "1314" "0" "c.1314C>T" "r.(?)" "p.(Ile438=)" "" "0000541703" "00002364" "50" "1264" "0" "1264" "0" "c.1264C>G" "r.(?)" "p.(Leu422Val)" "" "0000541706" "00002364" "70" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Arg252Gln)" "" "0000541707" "00002364" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Ter)" "" "0000541708" "00002364" "30" "492" "0" "492" "0" "c.492C>T" "r.(?)" "p.(Ala164=)" "" "0000541709" "00002364" "50" "232" "0" "232" "0" "c.232G>A" "r.(?)" "p.(Gly78Ser)" "" "0000541710" "00002364" "50" "163" "0" "163" "0" "c.163C>T" "r.(?)" "p.(Arg55Cys)" "" "0000612824" "00002364" "50" "1867" "0" "1867" "0" "c.1867G>A" "r.(?)" "p.(Asp623Asn)" "" "0000612825" "00002364" "50" "589" "0" "589" "0" "c.589G>C" "r.(?)" "p.(Glu197Gln)" "" "0000612826" "00002364" "50" "383" "0" "383" "0" "c.383G>A" "r.(?)" "p.(Arg128His)" "" "0000612827" "00002364" "50" "-28" "-2" "-28" "-2" "c.-28-2A>G" "r.spl?" "p.?" "" "0000622467" "00002364" "50" "1370" "0" "1370" "0" "c.1370G>T" "r.(?)" "p.(Arg457Leu)" "" "0000648043" "00002364" "30" "1977" "0" "1977" "0" "c.1977C>T" "r.(=)" "p.(=)" "" "0000648044" "00002364" "30" "1115" "0" "1115" "0" "c.1115C>A" "r.(?)" "p.(Ser372Tyr)" "" "0000648045" "00002364" "30" "1029" "0" "1029" "0" "c.1029T>C" "r.(=)" "p.(=)" "" "0000669092" "00002364" "30" "1115" "0" "1115" "0" "c.1115C>A" "r.(?)" "p.(Ser372Tyr)" "" "0000678965" "00002364" "90" "1321" "0" "1321" "0" "c.1321C>T" "r.(?)" "p.(Arg441Ter)" "" "0000723035" "00002364" "30" "2232" "0" "2232" "0" "c.2232G>A" "r.(?)" "p.(Ser744=)" "" "0000723036" "00002364" "70" "2143" "0" "2143" "0" "c.2143G>C" "r.(?)" "p.(Asp715His)" "" "0000723037" "00002364" "30" "995" "0" "995" "0" "c.995A>G" "r.(?)" "p.(His332Arg)" "" "0000723038" "00002364" "90" "809" "-1" "809" "-1" "c.809-1G>C" "r.spl?" "p.?" "" "0000723039" "00002364" "30" "589" "0" "589" "0" "c.589G>C" "r.(?)" "p.(Glu197Gln)" "" "0000723040" "00002364" "30" "157" "0" "157" "0" "c.157C>G" "r.(?)" "p.(Leu53Val)" "" "0000723041" "00002364" "30" "4" "0" "4" "0" "c.4T>C" "r.(?)" "p.(Leu2=)" "" "0000786637" "00002364" "90" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425Cys)" "" "0000786676" "00002364" "70" "177" "0" "177" "0" "c.177del" "r.(?)" "p.(Lys59Asnfs*9)" "" "0000787140" "00002364" "50" "382" "0" "382" "0" "c.382C>T" "r.(?)" "p.(Arg128Cys)" "4" "0000787196" "00002364" "50" "2351" "0" "2351" "0" "c.2351A>G" "r.(?)" "p.(His784Arg)" "18" "0000804650" "00002364" "50" "2308" "0" "2308" "0" "c.2308G>A" "r.(?)" "p.(Val770Met)" "" "0000804651" "00002364" "50" "2264" "0" "2264" "0" "c.2264A>G" "r.(?)" "p.(Glu755Gly)" "" "0000804652" "00002364" "50" "2194" "0" "2194" "0" "c.2194C>T" "r.(?)" "p.(Arg732Cys)" "" "0000804653" "00002364" "50" "1502" "0" "1502" "0" "c.1502T>C" "r.(?)" "p.(Leu501Ser)" "" "0000814418" "00002364" "50" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425Cys)" "" "0000852644" "00002364" "30" "1027" "0" "1027" "0" "c.1027A>G" "r.(?)" "p.(Ile343Val)" "" "0000862101" "00002364" "30" "1308" "0" "1308" "0" "c.1308G>A" "r.(?)" "p.(Leu436=)" "" "0000881244" "00002364" "70" "744" "0" "744" "0" "c.744C>A" "r.(?)" "p.(Ser248Arg)" "" "0000889352" "00002364" "50" "2276" "0" "2276" "0" "c.2276C>T" "r.(?)" "p.(Thr759Ile)" "" "0000889353" "00002364" "70" "1994" "0" "1994" "0" "c.1994G>T" "r.(?)" "p.(Arg665Leu)" "" "0000889354" "00002364" "50" "1388" "0" "1388" "0" "c.1388A>T" "r.(?)" "p.(Asn463Ile)" "" "0000889355" "00002364" "50" "1264" "0" "1264" "0" "c.1264C>G" "r.(?)" "p.(Leu422Val)" "" "0000889356" "00002364" "50" "760" "0" "760" "0" "c.760G>C" "r.(?)" "p.(Ala254Pro)" "" "0000908969" "00002364" "90" "1864" "0" "1864" "0" "c.1864C>T" "r.1864c>u" "p.Arg622Trp|0.02" "" "0000908970" "00002364" "90" "1988" "0" "1988" "0" "c.1988C>A" "r.1988c>a" "p.Ser663*" "" "0000929737" "00002364" "30" "2207" "-3" "2207" "-3" "c.2207-3C>T" "r.spl?" "p.?" "" "0000965956" "00002364" "30" "1314" "0" "1314" "0" "c.1314C>T" "r.(?)" "p.(Ile438=)" "" "0000979251" "00002364" "70" "2143" "0" "2143" "0" "c.2143G>C" "r.(?)" "p.(Asp715His)" "" "0000979252" "00002364" "50" "2110" "465" "2110" "465" "c.2110+465G>A" "r.(=)" "p.(=)" "" "0000979253" "00002364" "50" "1388" "0" "1388" "0" "c.1388A>T" "r.(?)" "p.(Asn463Ile)" "" "0000979254" "00002364" "50" "1351" "0" "1351" "0" "c.1351G>A" "r.(?)" "p.(Val451Met)" "" "0000979255" "00002364" "50" "1037" "0" "1037" "0" "c.1037G>A" "r.(?)" "p.(Gly346Glu)" "" "0000979256" "00002364" "30" "88" "3759" "88" "3759" "c.88+3759A>T" "r.(=)" "p.(=)" "" "0000979257" "00002364" "70" "88" "1" "88" "1" "c.88+1G>A" "r.spl?" "p.?" "" "0000979258" "00002364" "50" "88" "0" "88" "0" "c.88C>T" "r.(?)" "p.(His30Tyr)" "" "0000998619" "00002364" "70" "2176" "0" "2176" "0" "c.2176C>T" "r.(?)" "p.(Arg726Cys)" "" "0000998620" "00002364" "30" "2016" "0" "2016" "0" "c.2016A>T" "r.(?)" "p.(Glu672Asp)" "" "0000998621" "00002364" "50" "1673" "0" "1673" "0" "c.1673G>T" "r.(?)" "p.(Arg558Leu)" "" "0000998622" "00002364" "50" "1502" "0" "1502" "0" "c.1502T>C" "r.(?)" "p.(Leu501Ser)" "" "0000998623" "00002364" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.?" "" "0001038116" "00002364" "50" "1867" "0" "1867" "0" "c.1867G>A" "r.(?)" "p.(Asp623Asn)" "" "0001038117" "00002364" "50" "1864" "0" "1864" "0" "c.1864C>T" "r.(?)" "p.(Arg622Trp)" "" "0001038118" "00002364" "50" "1106" "0" "1106" "0" "c.1106T>C" "r.(?)" "p.(Met369Thr)" "" "0001045278" "00002364" "90" "332" "0" "332" "0" "c.332A>G" "r.(?)" "p.(Glu111Gly)" "" "0001045279" "00002364" "90" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Arg84Gln)" "" "0001046257" "00002364" "30" "2232" "0" "2232" "0" "c.2232G>A" "r.(?)" "p.(Ser744=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000049830" "0000078746" "0000049834" "0000078748" "0000049835" "0000078749" "0000049836" "0000078750" "0000049837" "0000078751" "0000049838" "0000078752" "0000049839" "0000078753" "0000049840" "0000078754" "0000291354" "0000648043" "0000291355" "0000648044" "0000291356" "0000648045" "0000305404" "0000669092" "0000375296" "0000786637" "0000375296" "0000786676" "0000375789" "0000787140" "0000375845" "0000787196" "0000386738" "0000814418" "0000420885" "0000881244" "0000429469" "0000908969" "0000429469" "0000908970" "0000467466" "0001045278" "0000467467" "0001045279"