### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = MDM1)
# 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}}"
"MDM1"	"Mdm1 nuclear protein homolog (mouse)"	"12"	"q15"	"unknown"	"NC_000012.11"	"UD_132319650269"	""	"https://www.LOVD.nl/SAXO6"	""	"1"	"29917"	"56890"	"613813"	"1"	"1"	"1"	"1"	"Alias MDM1.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	""	""	"1"	""	"<font color=\"#FF0000\">NOTE: gene name changed from MDM to SAXO6</font>"	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2026-03-09 18:38:24"	"00006"	"2026-03-09 21:39:29"


## 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}}"
"00026064"	"MDM1"	"(MDM1), transcript variant 5 (removed from reference sequence)"	"000"	"NM_001354969.2"	""	"NP_001341898.1"	""	""	"MANE select"	"-117"	"2863"	"2175"	"1"	"1"	"00006"	"2026-03-09 18:38:58"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00381"	"RD"	"dystrophy, retinal (RD)"	""	""	""	""	""	"00006"	"2014-05-09 11:59:52"	"00006"	"2015-12-07 07:11:25"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"MDM1"	"00381"


## Individuals ## Do not remove or alter this header ##
## Count = 6
"{{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}}"
"00474053"	""	""	""	"2"	""	"00006"	"{PMID:Moye 2026:41742423}"	"2-generation family, affected sister/brother, unaffected mother"	"M"	""	"Czech Republic"	""	"0"	""	""	""	"FamIPatS2"
"00474054"	""	""	"00474053"	"1"	""	"00006"	"{PMID:Moye 2026:41742423}"	"sister"	"F"	""	"Czech Republic"	""	"0"	""	""	""	"FamIPatS1"
"00474055"	""	""	""	"1"	""	"00006"	"{PMID:Moye 2026:41742423}"	"2-generation family, 1 affected, unaffected parents"	"M"	""	"Hungary"	""	"0"	""	""	""	"FamIIPatS3"
"00474056"	""	""	""	"4"	""	"00006"	"{PMID:Moye 2026:41742423}"	"2-generation family, 4 affected (3F, M), unaffected parents"	"F"	"yes"	"Israel"	""	"0"	""	""	"jew;Algeria"	"FamIIIPatS4"
"00474057"	""	""	""	"2"	""	"00006"	"{PMID:Moye 2026:41742423}"	"3-generation family, 2 affected sisters, unaffected parents"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"India"	"FamIVPatS5"
"00474058"	""	""	""	"1"	""	"00006"	"{PMID:Moye 2026:41742423}"	"3-generation family, 1 affected, unaffected parents"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Jamaica"	"FamVPatS6"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 6
"{{individualid}}"	"{{diseaseid}}"
"00474053"	"00381"
"00474054"	"00381"
"00474055"	"00381"
"00474056"	"00381"
"00474057"	"00381"
"00474058"	"00381"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00381
## Count = 6
"{{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}}"
"0000358853"	"00381"	"00474053"	"00006"	"Familial, autosomal recessive"	"63y"	"see paper; ..., static perimetry (BE): diffuse decrease of sensitivity with absolute scotomas in the central visual field irregularly extending to the periphery  (63); Diffuse chorioretinal atrophy, Bruch membrane folds (63); Obesity (BMI 40); hypertension (40y); dyslipidemia (66y); 62y-bipolar disorder"	"43y"	""	""	""	""	""	""	""	"cone-rod dystrophy"
"0000358854"	"00381"	"00474054"	"00006"	"Familial, autosomal recessive"	"68y"	"see paper; ..., static perimetry (BE): annular scotoma with central preserved window (68); Very mild fundus changes with RPE irregularities, pathology is apparent predominantly on SD-OCTand FAF (68); obesity (BMI 37); hypertension (66y); diabetes Type II (<58y)"	"40y"	""	""	""	""	""	""	""	"cone-rod dystrophy"
"0000358855"	"00381"	"00474055"	"00006"	"Familial, autosomal recessive"	"60y"	"see paper; ..., Goldmann VF (BE): concentric narrowing (V4e target 20° RE and 40° LE, III4e target 10° RE and 15° LE), no peripheral residual islands BE (60yr); Bone spicule pigment deposits in the mid-periphery (60yr) and RPE rarification.  OCT (BE):  well-preserved foveal structure and EZ line, but outside the fovea thinning of the OS and RPE (60yr); Extinguished rod and cone responses (60yr) ; Cataract surgery OU at age 45 ys. mfERG: no reproducible responses. Microperimetry: OU markedly decreased average threshold, central responses reduced, towards periphery no responses; hypertension (45y); diabetes Type II (45y)"	"45y"	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000358856"	"00381"	"00474056"	"00006"	"Familial, autosomal recessive"	"55y"	"see paper; ..., Goldman – remaining central island; bone spicule pigment deposits in the mid-peripher, waxy pallor of  optic disc. OCT (BE): Photoreceptor island in the fovea. RE –epiretinal membrane; ERG: Extinguished rod and residual cone response (55y)  EOG: reduced Arden ratio (110%); RE Amblyopia LE Diabetic macular edema, treated with  anti-VEGF; Diabetes Type II (40y); normal BMI; hypertension (55y); hyperlipidemia (55y); hearing loss (since 50y)                                no audiogram available"	"50y"	""	""	""	""	""	""	""	"atypical retinitis pigmentosa"
"0000358857"	"00381"	"00474057"	"00006"	"Familial, autosomal recessive"	"51y"	"see paper; ..., right asteroid hyalosis. Bilateral retinal vessel attenuation and mid peripheral pigment spicules. Left eye scattered PRP scars. Autofluorescence imaging shows hypoautofluorescence largely confined to the posterior pole with some mottled hypoautofluorescent changes nasally in both eyes, and mild hyperautofluorescence at the macula with a subtle hyperautofluorescent ring. OCT scans show disruption of the ellipsoid zone and loss of outer retina with a small preserved island centrally; Severe rod cone dystrophy with marked macular involvement bilaterally (42yr); Left eye PRP; Diabetes Type II (38y); arthritis; gout; cobalamin deficiency; anemia"	"38y"	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000358858"	"00381"	"00474058"	"00006"	"Familial, autosomal recessive"	"72y"	"see paper; ..., disc pallor, retinal vessel attenuation, retinal pigment spicules with sparing only of the far temporal peripheral retina, retinal atrophy in the peripapillary and perivascular region. A subtle hyperautofluorescent ring is noted at the macula in BE along with a margin of hyperautofluorescence just within the arcades. OCT scans show generalised outer retinal disruotion with no macula oedema; Not performed; Diabetes Type II; hypertension; ischemic heart disease; late-onset hearing loss (71y); cobalamin deficiency; anemia, MGUS"	"67y"	""	""	""	""	""	""	""	"retinitis pigmentosa"


## Screenings ## Do not remove or alter this header ##
## Count = 6
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000475723"	"00474053"	"1"	"00006"	"00006"	"2026-03-09 21:39:27"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000475724"	"00474054"	"1"	"00006"	"00006"	"2026-03-09 21:39:27"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000475725"	"00474055"	"1"	"00006"	"00006"	"2026-03-09 21:39:27"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000475726"	"00474056"	"1"	"00006"	"00006"	"2026-03-09 21:39:27"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000475727"	"00474057"	"1"	"00006"	"00006"	"2026-03-09 21:39:27"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000475728"	"00474058"	"1"	"00006"	"00006"	"2026-03-09 21:39:27"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 0


## 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 = 8
"{{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}}"
"0001070264"	"10"	"90"	"12"	"68726024"	"68726024"	"subst"	"0"	"00006"	"MDM1_000007"	"g.68726024A>G"	""	"{PMID:Moye 2026:41742423}"	""	""	"ACMGPVS1,PM2_sup,PP1_mod"	"Germline"	""	""	"0"	""	""	"g.68332244A>G"	""	"pathogenic (recessive)"	"ACMG"
"0001070265"	"10"	"90"	"12"	"68726024"	"68726024"	"subst"	"0"	"00006"	"MDM1_000007"	"g.68726024A>G"	""	"{PMID:Moye 2026:41742423}"	""	""	"ACMGPVS1,PM2_sup,PP1_mod"	"Germline"	""	""	"0"	""	""	"g.68332244A>G"	""	"pathogenic (recessive)"	"ACMG"
"0001070266"	"3"	"90"	"12"	"68709017"	"68709017"	"subst"	"0"	"00006"	"MDM1_000003"	"g.68709017T>A"	""	"{PMID:Moye 2026:41742423}"	""	""	"ACMGPVS1,PM2_sup,PP1_mod"	"Germline"	""	""	"0"	""	""	"g.68315237T>A"	""	"pathogenic (recessive)"	"ACMG"
"0001070267"	"3"	"70"	"12"	"68715342"	"68715342"	"subst"	"2.44023E-5"	"00006"	"MDM1_000006"	"g.68715342T>A"	""	"{PMID:Moye 2026:41742423}"	""	""	"ACMGPVS1,PM2_sup"	"Germline"	""	""	"0"	""	""	"g.68321562T>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0001070268"	"3"	"70"	"12"	"68710021"	"68710021"	"subst"	"1.22372E-5"	"00006"	"MDM1_000004"	"g.68710021G>A"	""	"{PMID:Moye 2026:41742423}"	""	""	"ACMGPVS1,PM2_sup"	"Germline"	""	""	"0"	""	""	"g.68316241G>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0001070269"	"3"	"70"	"12"	"68696653"	"68696653"	"subst"	"0"	"00006"	"MDM1_000002"	"g.68696653C>G"	""	"{PMID:Moye 2026:41742423}"	""	""	"ACMGPVS1,PM2_sup"	"Germline"	""	""	"0"	""	""	"g.68302873C>G"	""	"likely pathogenic (recessive)"	"ACMG"
"0001070270"	"21"	"90"	"12"	"68710032"	"68710032"	"del"	"0"	"00006"	"MDM1_000005"	"g.68710032del"	""	"{PMID:Moye 2026:41742423}"	""	""	"ACMGPVS1,PM2_sup,PP1_mod"	"Germline"	""	""	"0"	""	""	"g.68316252del"	""	"pathogenic (recessive)"	"ACMG"
"0001070271"	"21"	"90"	"12"	"68710032"	"68710032"	"del"	"0"	"00006"	"MDM1_000005"	"g.68710032del"	""	"{PMID:Moye 2026:41742423}"	""	""	"ACMGPVS1,PM2_sup,PP1_mod"	"Germline"	""	""	"0"	""	""	"g.68316252del"	""	"pathogenic (recessive)"	"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 MDM1
## Count = 8
"{{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}}"
"0001070264"	"00026064"	"90"	"2"	"0"	"2"	"0"	"c.2T>C"	"r.(?)"	"p.(Met1?)"	""
"0001070265"	"00026064"	"90"	"2"	"0"	"2"	"0"	"c.2T>C"	"r.(?)"	"p.(Met1?)"	""
"0001070266"	"00026064"	"90"	"1240"	"0"	"1240"	"0"	"c.1240A>T"	"r.(?)"	"p.(Lys414Ter)"	""
"0001070267"	"00026064"	"70"	"868"	"0"	"868"	"0"	"c.868A>T"	"r.(?)"	"p.(Lys290Ter)"	""
"0001070268"	"00026064"	"70"	"1048"	"0"	"1048"	"0"	"c.1048C>T"	"r.(?)"	"p.(Arg350Ter)"	""
"0001070269"	"00026064"	"70"	"1750"	"-1"	"1750"	"-1"	"c.1750-1G>C"	"r.spl"	"p.?"	""
"0001070270"	"00026064"	"90"	"1038"	"0"	"1038"	"0"	"c.1038del"	"r.(?)"	"p.(Glu348AsnfsTer23)"	""
"0001070271"	"00026064"	"90"	"1038"	"0"	"1038"	"0"	"c.1038del"	"r.(?)"	"p.(Glu348AsnfsTer23)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 8
"{{screeningid}}"	"{{variantid}}"
"0000475723"	"0001070264"
"0000475723"	"0001070270"
"0000475724"	"0001070265"
"0000475724"	"0001070271"
"0000475725"	"0001070266"
"0000475726"	"0001070267"
"0000475727"	"0001070268"
"0000475728"	"0001070269"