### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ALDOA) # 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}}" "ALDOA" "aldolase A, fructose-bisphosphate" "16" "p11.2" "unknown" "NC_000016.9" "UD_134408610011" "" "https://www.LOVD.nl/ALDOA" "" "1" "414" "226" "103850" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2026-05-04 11:50:46" "00006" "2026-05-04 13:34:38" ## 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}}" "00026081" "ALDOA" "transcript variant 6" "005" "NM_001243177.1" "" "NP_001230106.1" "" "" "" "-268" "1465" "1257" "30076994" "30081741" "00006" "2026-05-04 11:51:14" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03070" "GSD12" "storage disease, glycogen, type XII (GSD-12)" "AR" "611881" "" "" "" "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" "04216" "GSD" "storage disease, glycogen (GSD)" "" "" "" "" "" "00006" "2015-03-05 15:32:25" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ALDOA" "03070" "ALDOA" "04216" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00050370" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected mother/child" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050653" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050683" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00390025" "" "" "" "1" "" "00000" "{PMID:Ruberto 2020:32507954}" "" "?" "" "Italy" "" "0" "" "" "" "3" "00478148" "" "" "" "1" "" "00006" "{PMID:Sambuughin 2024:39457051}" "analysis 53 cases with exertional heat illness events" "" "" "United States" "" "0" "" "" "" "?" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00050370" "00198" "00050653" "00198" "00050683" "00198" "00390025" "04214" "00478148" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03070, 04214, 04216 ## Count = 4 "{{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}}" "0000036982" "00198" "00050370" "00006" "Unknown" "" "cleft palate, micrognathia, upslanted palpebral fissure, obesity, global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000037265" "00198" "00050653" "00006" "Isolated (sporadic)" "" "global developmental delay, specific learning disability, constipation, hypoplasia of dental enamel" "" "" "" "" "" "" "" "" "" "" "" "0000037295" "00198" "00050683" "00006" "Unknown" "" "microcephaly, abnormality of the outer ear, prominent metopic ridge, narrow mouth, inferior vermis hypoplasia, delayed speech and language development" "" "" "" "" "" "" "" "" "" "" "" "0000283565" "04214" "00390025" "00000" "Unknown" "11m" "Pale and tilted optic disk associated to hypoplasia, tortuous retinal vessels, non-homogeneous macula" "" "" "" "" "" "" "" "" "Retinal dystrophy" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050315" "00050370" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050598" "00050653" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050628" "00050683" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000391266" "00390025" "1" "00000" "03840" "2021-11-08 12:01:50" "" "" "arrayCGH" "DNA" "" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes" "0000479795" "00478148" "1" "00006" "00006" "2026-05-04 13:34:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000391266" "CLN3" ## 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 = 20 "{{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}}" "0000079295" "21" "90" "16" "29606538" "30215625" "del" "0" "00006" "FAM57B_000002" "g.29606538_30215625del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "Germline" "" "" "0" "" "" "g.29595217_30204304del" "" "pathogenic" "" "0000079578" "21" "90" "16" "29592782" "30257228" "dup" "0" "00006" "FAM57B_000004" "g.29592782_30257228dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "Germline" "" "" "0" "" "" "g.29581461_30245907dup" "" "pathogenic" "" "0000079608" "0" "90" "16" "27183151" "31888684" "dup" "0" "00006" "CLN3_000010" "g.27183151_31888684dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.33 cells" "Somatic" "" "" "0" "" "" "g.27171830_31877363dup" "" "pathogenic" "" "0000260758" "0" "50" "16" "30080005" "30080005" "subst" "2.8431E-5" "02326" "ALDOA_000001" "g.30080005C>T" "" "" "" "ALDOA(NM_001243177.3):c.525C>T (p.G175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30068684C>T" "" "VUS" "" "0000557836" "0" "30" "16" "30078229" "30078229" "subst" "2.10072E-5" "01943" "ALDOA_000002" "g.30078229G>A" "" "" "" "ALDOA(NM_001243177.1):c.11G>A (p.R4H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30066908G>A" "" "likely benign" "" "0000557837" "0" "10" "16" "30078907" "30078907" "subst" "0.00092194" "01943" "ALDOA_000003" "g.30078907A>G" "" "" "" "ALDOA(NM_001243177.1):c.411A>G (p.T137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30067586A>G" "" "benign" "" "0000557838" "0" "30" "16" "30080245" "30080245" "subst" "0.000268018" "01943" "ALDOA_000004" "g.30080245C>G" "" "" "" "ALDOA(NM_001243177.1):c.648C>G (p.L216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30068924C>G" "" "likely benign" "" "0000615931" "0" "50" "16" "30078852" "30078852" "subst" "1.62561E-5" "01804" "ALDOA_000006" "g.30078852C>T" "" "" "" "ALDOA(NM_000034.3):c.194C>T (p.(Thr65Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30067531C>T" "" "VUS" "" "0000692041" "0" "30" "16" "30081323" "30081323" "subst" "0.000102102" "01943" "ALDOA_000007" "g.30081323G>A" "" "" "" "ALDOA(NM_001243177.1):c.1134G>A (p.A378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30070002G>A" "" "likely benign" "" "0000807344" "0" "30" "16" "30081477" "30081477" "subst" "0.00247845" "01943" "ALDOA_000008" "g.30081477G>A" "" "" "" "ALDOA(NM_001243177.1):c.1201G>A (p.G401S), ALDOA(NM_001243177.3):c.1201G>A (p.G401S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30070156G>A" "" "likely benign" "" "0000820998" "0" "70" "16" "28100001" "34600000" "del" "0" "00000" "CRYM_000000" "g.28100001_34600000del" "" "{PMID:Ruberto 2020:32507954}" "" "CGH array, microdeletion in 16p11.2" "zygosity not written; probable breakpoints; pathogenic in literature; genes ANKS4B,CRYM,NPIPB3,SMG1P3,RRN3P3,MIR3680-1,MIR3680-2,SLC7A5P2,LOC101927814,METTL9,IGSF6,OTOA,OTOAP1,RRN3P1,NPIPB4,NPIPB5,UQCRC2,PDZD9,MOSMO,VWA3A,EEF2K,POLR3E,CDR2,MFSD13B,HS3ST2,USP31,SCNN1G,SCNN1B,COG7,GGA2,EARS2,UBFD1,NDUFAB1,PALB2,DCTN5,PLK1,ERN2,CHP2" "Unknown" "?" "" "0" "" "" "g.28500001_35300000del" "" "likely pathogenic" "" "0000892915" "0" "30" "16" "30081477" "30081477" "subst" "0.00247845" "02326" "ALDOA_000008" "g.30081477G>A" "" "" "" "ALDOA(NM_001243177.1):c.1201G>A (p.G401S), ALDOA(NM_001243177.3):c.1201G>A (p.G401S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30070156G>A" "" "likely benign" "" "0000968316" "0" "30" "16" "30081162" "30081162" "subst" "0.00118251" "02326" "ALDOA_000009" "g.30081162C>T" "" "" "" "ALDOA(NM_001243177.3):c.973C>T (p.L325=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30069841C>T" "" "likely benign" "" "0000981834" "0" "50" "16" "30078878" "30078878" "subst" "8.93742E-5" "01804" "ALDOA_000010" "g.30078878A>C" "" "" "" "ALDOA(NM_001243177.4):c.382A>C (p.(Ile128Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30067557A>C" "" "VUS" "" "0001041035" "0" "50" "16" "30078307" "30078307" "subst" "0" "01804" "ALDOA_000011" "g.30078307G>C" "" "" "" "ALDOA(NM_001243177.4):c.89G>C (p.(Gly30Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30066986G>C" "" "VUS" "" "0001041036" "0" "30" "16" "30080134" "30080134" "subst" "0" "01804" "ALDOA_000012" "g.30080134C>T" "" "" "" "ALDOA(NM_001243177.4):c.542-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30068813C>T" "" "likely benign" "" "0001055517" "0" "30" "16" "30078368" "30078368" "subst" "0" "01804" "ALDOA_000013" "g.30078368G>A" "" "" "" "ALDOA(NM_001243177.4):c.141+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30067047G>A" "" "likely benign" "" "0001055518" "0" "50" "16" "30078959" "30078959" "subst" "0" "01804" "ALDOA_000014" "g.30078959A>G" "" "" "" "ALDOA(NM_001243177.4):c.463A>G (p.(Lys155Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30067638A>G" "" "VUS" "" "0001055519" "0" "50" "16" "30079979" "30079979" "subst" "0" "01804" "ALDOA_000015" "g.30079979G>C" "" "" "" "ALDOA(NM_001243177.4):c.499G>C (p.(Val167Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30068658G>C" "" "VUS" "" "0001075786" "0" "50" "16" "30078630" "30078630" "subst" "0" "00006" "chr16_007652" "g.30078630A>G" "" "{PMID:Sambuughin 2024:39457051}" "" "" "combination with other variants not reported" "Germline/De novo (untested)" "" "rs929389001" "0" "" "" "g.30067309A>G" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ALDOA ## Count = 20 "{{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}}" "0000079295" "00026081" "90" "-268" "-470456" "1465" "133884" "c.-470725_*134091del" "r.0?" "p.0?" "" "0000079578" "00026081" "90" "-268" "-484212" "1465" "175487" "c.-484480_*175695dup" "r.?" "p.?" "" "0000079608" "00026081" "90" "-268" "-2893843" "1465" "1806943" "c.-2894111_*1807151dup" "r.?" "p.?" "" "0000260758" "00026081" "50" "525" "0" "525" "0" "c.525C>T" "r.(?)" "p.(Gly175=)" "" "0000557836" "00026081" "30" "11" "0" "11" "0" "c.11G>A" "r.(?)" "p.(Arg4His)" "" "0000557837" "00026081" "10" "411" "0" "411" "0" "c.411A>G" "r.(?)" "p.(Thr137=)" "" "0000557838" "00026081" "30" "648" "0" "648" "0" "c.648C>G" "r.(?)" "p.(Leu216=)" "" "0000615931" "00026081" "50" "356" "0" "356" "0" "c.356C>T" "r.(?)" "p.(Thr119Ile)" "" "0000692041" "00026081" "30" "1134" "0" "1134" "0" "c.1134G>A" "r.(?)" "p.(Ala378=)" "" "0000807344" "00026081" "30" "1201" "0" "1201" "0" "c.1201G>A" "r.(?)" "p.(Gly401Ser)" "" "0000820998" "00026081" "70" "-268" "-1976993" "1465" "4518259" "c.-1977261_*4518467del" "r.0?" "p.0?" "" "0000892915" "00026081" "30" "1201" "0" "1201" "0" "c.1201G>A" "r.(?)" "p.(Gly401Ser)" "" "0000968316" "00026081" "30" "973" "0" "973" "0" "c.973C>T" "r.(?)" "p.(Leu325=)" "" "0000981834" "00026081" "50" "382" "0" "382" "0" "c.382A>C" "r.(?)" "p.(Ile128Leu)" "" "0001041035" "00026081" "50" "89" "0" "89" "0" "c.89G>C" "r.(?)" "p.(Gly30Ala)" "" "0001041036" "00026081" "30" "542" "-5" "542" "-5" "c.542-5C>T" "r.spl?" "p.(=)" "" "0001055517" "00026081" "30" "141" "9" "141" "9" "c.141+9G>A" "r.spl?" "p.?" "" "0001055518" "00026081" "50" "463" "0" "463" "0" "c.463A>G" "r.(?)" "p.(Lys155Glu)" "" "0001055519" "00026081" "50" "499" "0" "499" "0" "c.499G>C" "r.(?)" "p.(Val167Leu)" "" "0001075786" "00026081" "50" "217" "0" "217" "0" "c.217A>G" "r.(?)" "p.(Ile73Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000050315" "0000079295" "0000050598" "0000079578" "0000050628" "0000079608" "0000391266" "0000820998" "0000479795" "0001075786"