### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = MAD2L2)
# 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}}"
"MAD2L2" "MAD2 mitotic arrest deficient-like 2 (yeast)" "1" "p36" "unknown" "NG_052907.1" "UD_132439562004" "" "https://www.LOVD.nl/MAD2L2" "Fanconi anemia mutation databases homepage (Rockefeller University) " "1" "6764" "10459" "604094" "1" "1" "1" "1" "Alias REV7, MAD2B, POLZ2, FANCV.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.\r\nWe gratefully acknowledge the efforts of Arleen Auerbach curating the variant linked to Fanconi Anemia (until end 2019)." "" "g" "https://databases.lovd.nl/shared/refseq/MAD2L2_codingDNA.html" "1" "" "![](\"docs/Logo_RockefellerUniversity.gif\")
A Fanconi anemia mutation database.
\r\n" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-12-13 10:43:40" "00000" "2022-05-09 15:40:45"
## 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}}"
"00011640" "MAD2L2" "transcript variant 2" "002" "NM_006341.3" "" "NP_006332.3" "" "" "" "-188" "931" "636" "11741271" "11734537" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 3
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"04300" "FANC" "Fanconi anemia (FANC)" "AD" "" "" "" "" "00006" "2015-07-19 11:40:38" "00006" "2021-12-10 21:51:32"
"05185" "FANCV" "Fanconi anemia, complementation group V (FANCV)" "AR" "617243" "" "autosomal recessive" "" "00006" "2016-10-04 15:14:28" "00006" "2021-12-10 21:51:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"MAD2L2" "05185"
## Individuals ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00081424" "" "" "" "1" "" "00006" "{PMID:Bluteau 2016:27500492}, {DOI:Bluteau 2016:10.1172/JCI88010}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "France" "" "0" "" "" "" ""
"00390029" "" "" "" "1" "" "00000" "{PMID:Ruberto 2020:32507954}" "" "?" "" "Italy" "" "0" "" "" "" "16"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}" "{{diseaseid}}"
"00081424" "04300"
"00390029" "04214"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 04214, 04300, 05185
## Count = 2
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}"
"0000060990" "04300" "00081424" "00006" "Familial, autosomal recessive" "08y" "severe bone marrow failure (HP:0005528) involving all 3 lineages (hemoglobin, 8.0 g/dl; neutrophil count, 0.43×10ˆ9/l; platelets, 10 × 10^9/l), Fanconi anemia physical signs\r\n(short size (HP:0004322) at less than tenth percentile, microcephaly (HP:0000252), abnormal facial features (HP:0000271)), renal tubulopathy (HP:0000091), elevated serum alpha-fetoprotein (HP:0006254), positive mitomycine C (MMC) chromosome breakage test blood lymphocytes" "" "" "" "" "" "" "" "FANCV" "Fanconi anemia"
"0000283569" "04214" "00390029" "00000" "Unknown" "" "Very pale optic disk, chorioretinal atrophy in macular area, highly altered fundus" "" "" "" "" "" "" "" "Retinal dystrophy" ""
## Screenings ## Do not remove or alter this header ##
## Count = 2
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000081538" "00081424" "1" "00006" "00006" "2016-10-10 21:50:04" "" "" "SEQ" "DNA" "" ""
"0000391270" "00390029" "1" "00000" "03840" "2021-11-08 12:01:50" "" "" "arrayCGH" "DNA" "" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{geneid}}"
"0000081538" "MAD2L2"
"0000391270" "NMNAT1"
## 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 = 4
"{{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}}"
"0000132194" "3" "90" "1" "11736983" "11736983" "subst" "0" "00006" "MAD2L2_000001" "g.11736983A>T" "" "{PMID:Bluteau 2016:27500492}, {DOI:Bluteau 2016:10.1172/JCI88010}" "" "354T>A (V85G)" "rare homozygosity regions consistent with distant consanguinity" "Germline" "" "" "0" "" "" "g.11676926A>T" "" "pathogenic" ""
"0000821006" "0" "90" "1" "9200001" "12700000" "del" "0" "00000" "MTHFR_000084" "g.9200001_12700000del" "" "{PMID:Ruberto 2020:32507954}" "" "CGH array deletion in Cr1p36.22 involving NMNAT1 gene," "am apparent homozygous NMNAT1 mutation was found, probably on the other allele" "Unknown" "?" "" "0" "" "" "g.9100001_12500000del" "" "likely pathogenic" ""
"0000848251" "0" "10" "1" "11740535" "11740535" "subst" "0.00705328" "02329" "MAD2L2_000002" "g.11740535G>T" "" "" "" "MAD2L2(NM_001127325.1):c.41-7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000973203" "0" "50" "1" "11736956" "11736956" "subst" "0" "01804" "FBXO6_000001" "g.11736956G>A" "" "" "" "MAD2L2(NM_006341.4):c.281C>T (p.(Pro94Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes MAD2L2
## Count = 4
"{{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}}"
"0000132194" "00011640" "90" "254" "0" "254" "0" "c.254T>A" "r.(?)" "p.(Val85Glu)" "6"
"0000821006" "00011640" "90" "-958917" "0" "2535467" "0" "c.-958917_*2534831del" "r.0?" "p.0?" ""
"0000848251" "00011640" "10" "41" "-7" "41" "-7" "c.41-7C>A" "r.(=)" "p.(=)" ""
"0000973203" "00011640" "50" "281" "0" "281" "0" "c.281C>T" "r.(?)" "p.(Pro94Leu)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{variantid}}"
"0000081538" "0000132194"
"0000391270" "0000821006"