### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = GMNN)
# 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}}"
"GMNN"	"geminin, DNA replication inhibitor"	"6"	"p21.32"	"unknown"	"NG_030440.1"	"UD_136087255710"	""	"https://www.LOVD.nl/GMNN"	""	"1"	"17493"	"51053"	"602842"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"http://databases.lovd.nl/shared/refseq/GMNN_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2017-01-06 20:10:41"	"00000"	"2026-01-20 18:57:21"


## 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}}"
"00008628"	"GMNN"	"transcript variant 1"	"001"	"NM_015895.4"	""	"NP_056979.1"	""	""	""	"-339"	"930"	"630"	"24775159"	"24786327"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"05169"	"MGORS"	"Meier-Gorlin syndrome (MGORS)"	""	""	""	""	""	"00006"	"2016-05-26 15:16:56"	""	""
"06692"	"MGORS6"	"Meier-Gorlin syndrome 6"	"AD"	"616835"	""	""	""	"00006"	"2021-12-10 23:20:41"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"GMNN"	"06692"


## Individuals ## Do not remove or alter this header ##
## Count = 3
"{{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}}"
"00065288"	""	""	""	"1"	""	"01604"	"{PMID:Burrage 2015:26637980}, {DOI:Burrage 2015:10.1016/j.ajhg.2015.11.006}"	"2-generation family, 1 affected, unaffected non-carrier parents (mother had multiple spontaneous miscarriages)"	"F"	"?"	""	">00y34m"	"0"	""	""	""	""
"00065295"	""	""	""	"1"	""	"01604"	"{PMID:Burrage 2015:26637980}, {DOI:Burrage 2015:10.1016/j.ajhg.2015.11.006}"	"2-generation family, 1 affected, unaffected non-carrier parent; previously described by Bongers (patient 2) and de Munnik (subject 2)"	"M"	""	""	">17y"	"0"	""	""	""	""
"00065297"	""	""	""	"1"	""	"01604"	"{PMID:Burrage 2015:26637980}, {DOI:Burrage 2015:10.1016/j.ajhg.2015.11.006}"	"2-generation family, 1 affected, unaffected non-carrier parent"	"F"	"no"	""	">03y04m"	"0"	""	""	"Dutch"	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}"	"{{diseaseid}}"
"00065288"	"05169"
"00065295"	"05169"
"00065297"	"05169"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 05169, 06692
## Count = 3
"{{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}}"
"0000051395"	"05169"	"00065288"	"01604"	"Familial, autosomal dominant"	"00y34m"	"short stature (HP:0004322), microtia (HP:0008551), patella aplasia (HP:0006443), low birth weight (HP:0001518), low weight (HP:0004325), reduced head circumference (HP:0000252), delayed bone age (HP:0002750), frontal bossing (HP:?) or high forehead (HP:0000348), down-slanted palpebral fissures (HP:0000494), posteriorly rotated ears (HP:0000358), upturned nose (HP:0000463), hypoplastic nares (HP:0000430), full lips (HP:0012471), micro-/retrognathia (HP:0000308), no motor delay (-HP:0001270), no speech delay (-HP:0000750), no pulmonary emphysema (-HP:0002097), laryngomalacia (HP:0001601), tracheo-/bronchomalacia (HP:0002786), feeding problems in infancy (HP:0011968), failure to thrive (HP:0001508), gastresophageal reflux (HP:0002020), abnormal genitalia (HP:0010460), hypoplastic labia majora (HP:0000059), trichiasis (HP:0001128), nanophthalmos (HP:0000568)"	""	""	""	""	""	""	""	""	""
"0000051410"	"05169"	"00065295"	"01604"	"Familial, autosomal dominant"	"17y"	"short stature (HP:0004322), microtia (HP:0008551), patella aplasia (HP:0006443), low birth weight (HP:0001518), reduced birth lengt (HP:?), birth head circumference (HP:0011451), low weight (HP:0004325), delayed bone age (HP:0002750), frontal bossing (HP:?) or high forehead (HP:0000348), no down-slanted palpebral fissures (-HP:0000494), no posteriorly rotated ears (-HP:0000358), no upturned nose (-HP:0000463), hypoplastic nares (HP:0000430), full lips (HP:0012471), micro-/retrognathia (HP:0000308), motor delay (HP:0001270),  speech delay (HP:0000750), developmental assessment (HP:?), pulmonary emphysema (HP:0002097), no laryngomalacia (-HP:0001601), no tracheo-/bronchomalacia (-HP:0002786), feeding problems in infancy (HP:0011968), failure to thrive (HP:0001508), no gastresophageal reflux (-HP:0002020), no abnormal genitalia (-HP:0010460), hypospadias (HP:0000047), cryptorchidism (HP:0000028), no rIncreased/marked lumbar lordosis (HP:0002938) Urethral stenosis/\r\ndysplasia (HP:0008661)enal anomalies (-HP:0000077),"	""	"00y04m"	""	""	""	""	""	""	""
"0000051412"	"05169"	"00065297"	"01604"	"Familial, autosomal dominant"	"03y04m"	"short stature (HP:0004322), microtia (HP:0008551), patella aplasia (HP:0006443), reduced birth weight (HP:0001518), reduced birth lengt (HP:?), reduced weight (HP:0004325), reduced head circumference (HP:0000252), frontal bossing (HP:?) or high forehead (HP:0000348), no down-slanted palpebral fissures (-HP:0000494), posteriorly rotated ears (HP:0000358), no upturned nose (-HP:0000463), hypoplastic nares (HP:0000430), full lips (HP:0012471), micro-/retrognathia (HP:0000308), motor delay (HP:0001270),  speech delay (HP:0000750), developmental assessment IQ= 59 at age 14 years (HP:?), no pulmonary emphysema (-HP:0002097), no laryngomalacia (-HP:0001601), no tracheo-/bronchomalacia (-HP:0002786), feeding problems in infancy (HP:0011968), no failure to thrive (-HP:0001508), no gastresophageal reflux (-HP:0002020), no renal anomalies (HP:0000077\r\n), Increased/marked lumbar lordosis (HP:0002938), bilateral congenital hip subluxation (HP:0030043), strabismus (HP:0000486), cleft palate (palatum molle) (HP:0000175)"	""	"03y"	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 3
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000065441"	"00065288"	"1"	"01604"	"01604"	"2016-05-26 15:49:46"	""	""	"SEQ;SEQ-NG-I;Western"	"DNA"	""	""
"0000065448"	"00065295"	"1"	"01604"	"01604"	"2016-05-27 10:52:31"	""	""	"SEQ;SEQ-NG-I;Western"	"DNA"	""	""
"0000065450"	"00065297"	"1"	"01604"	"01604"	"2016-05-27 11:16:15"	""	""	"SEQ;SEQ-NG-I;Western"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000065441"	"GMNN"
"0000065448"	"GMNN"
"0000065450"	"GMNN"


## 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 = 10
"{{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}}"
"0000097129"	"1"	"90"	"6"	"24777490"	"24777490"	"subst"	"0"	"01604"	"GMNN_000002"	"g.24777490A>T"	""	"{PMID:Burrage 2015:26637980}, {DOI:Burrage 2015:10.1016/j.ajhg.2015.11.006}"	""	""	""	"De novo"	"-"	""	"0"	""	""	"g.24777262A>T"	""	"pathogenic"	""
"0000097137"	"1"	"90"	"6"	"24777509"	"24777512"	"del"	"0"	"01604"	"GMNN_000001"	"g.24777509_24777512del"	""	"{PMID:Burrage 2015:26637980}, {DOI:Burrage 2015:10.1016/j.ajhg.2015.11.006}"	""	"35_38delTCAA"	""	"De novo"	"-"	""	"0"	""	""	"g.24777281_24777284del"	""	"pathogenic"	""
"0000097139"	"1"	"90"	"6"	"24777524"	"24777524"	"subst"	"0"	"01604"	"GMNN_000003"	"g.24777524A>G"	""	"{PMID:Burrage 2015:26637980}, {DOI:Burrage 2015:10.1016/j.ajhg.2015.11.006}"	""	""	""	"De novo"	"-"	""	"0"	""	""	"g.24777296A>G"	""	"pathogenic"	""
"0000977121"	"0"	"50"	"6"	"24784733"	"24784733"	"subst"	"0"	"01804"	"GMNN_000006"	"g.24784733A>T"	""	""	""	"GMNN(NM_015895.5):c.419A>T (p.(Glu140Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000995595"	"0"	"30"	"6"	"24781777"	"24781777"	"subst"	"0"	"01804"	"GMNN_000007"	"g.24781777A>G"	""	""	""	"GMNN(NM_015895.4):c.202A>G (p.(Ile68Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000995596"	"0"	"30"	"6"	"24784712"	"24784712"	"subst"	"4.06745E-5"	"01804"	"GMNN_000008"	"g.24784712G>A"	""	""	""	"GMNN(NM_015895.4):c.398G>A (p.(Arg133His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000995597"	"0"	"30"	"6"	"24784739"	"24784739"	"subst"	"1.62752E-5"	"01804"	"GMNN_000009"	"g.24784739C>A"	""	""	""	"GMNN(NM_015895.4):c.425C>A (p.(Ala142Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000995598"	"0"	"30"	"6"	"24785863"	"24785863"	"subst"	"0.000228007"	"01804"	"GMNN_000010"	"g.24785863A>G"	""	""	""	"GMNN(NM_015895.4):c.469-3A>G (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000995599"	"0"	"50"	"6"	"24785865"	"24785865"	"subst"	"0"	"01804"	"GMNN_000011"	"g.24785865G>C"	""	""	""	"GMNN(NM_015895.4):c.469-1G>C (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001064509"	"0"	"30"	"6"	"24785863"	"24785863"	"subst"	"0.000228007"	"02325"	"GMNN_000010"	"g.24785863A>G"	""	""	""	"GMNN(NM_015895.4):c.469-3A>G (p.?)"	"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 GMNN
## Count = 10
"{{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}}"
"0000097129"	"00008628"	"90"	"16"	"0"	"16"	"0"	"c.16A>T"	"r.(?)"	"p.(Lys6*)"	"2"
"0000097137"	"00008628"	"90"	"35"	"0"	"38"	"0"	"c.35_38del"	"r.(?)"	"p.(Ile12Lysfs*4)"	"2"
"0000097139"	"00008628"	"90"	"50"	"0"	"50"	"0"	"c.50A>G"	"r.(?)"	"p.(Lys17Arg)"	"2"
"0000977121"	"00008628"	"50"	"419"	"0"	"419"	"0"	"c.419A>T"	"r.(?)"	"p.(Glu140Val)"	""
"0000995595"	"00008628"	"30"	"202"	"0"	"202"	"0"	"c.202A>G"	"r.(?)"	"p.(Ile68Val)"	""
"0000995596"	"00008628"	"30"	"398"	"0"	"398"	"0"	"c.398G>A"	"r.(?)"	"p.(Arg133His)"	""
"0000995597"	"00008628"	"30"	"425"	"0"	"425"	"0"	"c.425C>A"	"r.(?)"	"p.(Ala142Glu)"	""
"0000995598"	"00008628"	"30"	"469"	"-3"	"469"	"-3"	"c.469-3A>G"	"r.spl?"	"p.?"	""
"0000995599"	"00008628"	"50"	"469"	"-1"	"469"	"-1"	"c.469-1G>C"	"r.spl?"	"p.?"	""
"0001064509"	"00008628"	"30"	"469"	"-3"	"469"	"-3"	"c.469-3A>G"	"r.spl?"	"p.?"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{variantid}}"
"0000065441"	"0000097129"
"0000065448"	"0000097137"
"0000065450"	"0000097139"