### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = UGGT1) # 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}}" "UGGT1" "UDP-glucose glycoprotein glucosyltransferase 1" "2" "q14.3" "unknown" "NC_000002.11" "UD_132610627989" "" "https://www.LOVD.nl/UGGT1" "" "1" "15663" "56886" "605897" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/UGGT1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-05-05 16:49:48" "00006" "2025-05-05 17:57:17" ## 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}}" "00022335" "UGGT1" "transcript variant 1" "001" "NM_020120.3" "" "NP_064505.1" "" "" "" "-178" "10603" "4668" "128848754" "128953251" "" "0000-00-00 00:00:00" "" "" ## 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}}" "05461" "CDG" "glycosylation, congenital disorder of (CDG)" "" "" "" "" "" "00006" "2018-07-18 09:08:14" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "UGGT1" "05461" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00465272" "" "" "" "1" "" "00006" "{PMID:Dardas 2025:40267907}, {DOI:Dardas 2025:10.1016/j.ajhg.2025.03.018}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "United States" "5y" "0" "" "" "Amish" "Fam1PatII1" "00465273" "" "" "" "1" "" "00006" "{PMID:Dardas 2025:40267907}, {DOI:Dardas 2025:10.1016/j.ajhg.2025.03.018}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Pakistan" "" "0" "" "" "" "Fam2PatII1" "00465274" "" "" "" "2" "" "00006" "{PMID:Dardas 2025:40267907}, {DOI:Dardas 2025:10.1016/j.ajhg.2025.03.018}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "7m" "0" "" "" "" "Fam3PatII1" "00465275" "" "" "00465274" "1" "" "00006" "{PMID:Dardas 2025:40267907}, {DOI:Dardas 2025:10.1016/j.ajhg.2025.03.018}" "sister" "F" "yes" "Pakistan" "<0d" "0" "" "" "" "Fam3PatII2" "00465276" "" "" "" "1" "" "00006" "{PMID:Dardas 2025:40267907}, {DOI:Dardas 2025:10.1016/j.ajhg.2025.03.018}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "United States" "" "0" "" "" "Europe" "Fam4PatII1" "00465277" "" "" "" "1" "" "00006" "{PMID:Dardas 2025:40267907}, {DOI:Dardas 2025:10.1016/j.ajhg.2025.03.018}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Saudi Arabia" "" "0" "" "" "" "Fam5PatII1" "00465278" "" "" "" "2" "" "00006" "{PMID:Dardas 2025:40267907}, {DOI:Dardas 2025:10.1016/j.ajhg.2025.03.018}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "Saudi Arabia" "" "0" "" "" "" "Fam6PatII1" "00465279" "" "" "00465278" "1" "" "00006" "{PMID:Dardas 2025:40267907}, {DOI:Dardas 2025:10.1016/j.ajhg.2025.03.018}" "brother" "M" "" "Saudi Arabia" "" "0" "" "" "" "Fam6PatII2" "00465280" "" "" "" "1" "" "00006" "{PMID:Dardas 2025:40267907}, {DOI:Dardas 2025:10.1016/j.ajhg.2025.03.018}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Turkey" "" "0" "" "" "" "Fam7PatII1" "00465281" "" "" "" "2" "" "00006" "{PMID:Dardas 2025:40267907}, {DOI:Dardas 2025:10.1016/j.ajhg.2025.03.018}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "8y" "0" "" "" "" "Fam8PatII1" "00465282" "" "" "00465281" "1" "" "00006" "{PMID:Dardas 2025:40267907}, {DOI:Dardas 2025:10.1016/j.ajhg.2025.03.018}" "sister" "F" "yes" "Turkey" "7y" "0" "" "" "" "Fam8PatII2" "00465283" "" "" "" "3" "" "00006" "{PMID:Dardas 2025:40267907}, {DOI:Dardas 2025:10.1016/j.ajhg.2025.03.018}" "2-generation family, affected brother/2 sisters, unaffected heterozygous carrier parents" "F" "yes" "Egypt" "" "0" "" "" "" "Fam9PatII1" "00465284" "" "" "00465283" "1" "" "00006" "{PMID:Dardas 2025:40267907}, {DOI:Dardas 2025:10.1016/j.ajhg.2025.03.018}" "sister" "F" "yes" "Egypt" "" "0" "" "" "" "Fam9PatII2" "00465285" "" "" "00465283" "1" "" "00006" "{PMID:Dardas 2025:40267907}, {DOI:Dardas 2025:10.1016/j.ajhg.2025.03.018}" "sister" "M" "yes" "Egypt" "" "0" "" "" "" "Fam9PatII3" "00465286" "" "" "" "1" "" "00006" "{PMID:Dardas 2025:40267907}, {DOI:Dardas 2025:10.1016/j.ajhg.2025.03.018}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Egypt" "" "0" "" "" "" "Fam10PatII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00465272" "05461" "00465273" "05461" "00465274" "05461" "00465275" "05461" "00465276" "05461" "00465277" "05461" "00465278" "05461" "00465279" "05461" "00465280" "05461" "00465281" "05461" "00465282" "05461" "00465283" "05461" "00465284" "05461" "00465285" "05461" "00465286" "05461" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05461 ## Count = 15 "{{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}}" "0000350810" "05461" "00465272" "00006" "Familial, autosomal recessive" "5y" "see paper; ..., 5y-deceasaed; birth OFC 34.5 cm (-1.02); OFC 4m-38.1 cm (-3.95); cranial dysmorphism; severe developmental delay; central hypotonia, limb hypertonia; neonatal onset tonic-clonic seizures; MRI brain periventricular heterotopia, mild delay in myelination; enlarged kidneys with cystic foci, cryptorchidism; hepatomegaly with periportal echogenicity/fibrosis; patent foramen ovale, patent ductus arteriosus; overlapping fingers and toes, scoliosis, wide sandal gap; horizontal nystagmus; central apnea, feeding difficulties, hearing impairment, respiratory failure" "" "" "" "" "" "" "" "" "congenital disorder of glycosylation" "0000350811" "05461" "00465273" "00006" "Familial, autosomal recessive" "17y7m" "see paper; ..., birth OFC 33.5 cm (-1.14); OFC 9y10m-52.8 cm (-1.02); no cranial dysmorphism; seversevere developmental delay; nonverbal; severe intellectual disability; normal muscle tone; severe, medically refractory seizures; autism, challenging behavior; MRI brain normal; no genitourinary anomalies; no hepatobiliary anomalies; no cardiac anomalies; no skeletal anomalies; no ocular anomalies" "" "" "" "" "" "" "" "" "congenital disorder of glycosylation" "0000350812" "05461" "00465274" "00006" "Familial, autosomal recessive" "7m" "see paper; ..., 7m-deceasaed; birth OFC 32.5 cm (-0.66); cranial dysmorphism; severe developmental delay; limb contractures; no seizures; MRI brain periventricular heterotopia, hypoplastic cerebellum and optic nerves; cystic renal dysplasia, cryptorchidism, short penis; intra- and extrahepatic bile duct dilation; hypoplastic aortic arch, patent ductus arteriosus, atrial septal defect; contractures, upper thoracic hemivertebra; bilateral coloboma; cleft lip and palate, sensorineural hearing loss, failure to thrive, hernias, respiratory failure, aortic and inferior vena cana thrombi" "" "" "" "" "" "" "" "" "congenital disorder of glycosylation" "0000350813" "05461" "00465275" "00006" "Familial, autosomal recessive" "<0d" "see paper; ..., deceasaed (fetus); MRI brain cystic post-fossa (antenatal scan); double outlet right ventricle, transposition great arteries, ventricular septal defect, hypoplastic pulmonary valve with pulmonary stenosis; cleft lip and palate, cystic abdominal mass, lung hypoplasia" "" "" "" "" "" "" "" "" "congenital disorder of glycosylation" "0000350814" "05461" "00465276" "00006" "Familial, autosomal recessive" "20y" "see paper; ..., birth OFC 34 cm (−0.47); OFC 16y4m-54.6 cm (-1.25); cranial dysmorphism; seversevere developmental delay; nonverbal; severe Intellectual disability; hypotonia (infancy), normal; febrile onset then afebrile, partial complex, and GTC; autism, severe self-injury; no genitourinary anomalies; no hepatobiliary anomalies; no cardiac anomalies; no skeletal anomalies; hypothyroidism" "" "" "" "" "" "" "" "" "congenital disorder of glycosylation" "0000350815" "05461" "00465277" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., cranial dysmorphism; developmental delay; lower limb hypertonia; recurrent febrile seizures; hyperactive; MRI brain normal" "" "" "" "" "" "" "" "" "congenital disorder of glycosylation" "0000350816" "05461" "00465278" "00006" "Familial, autosomal recessive" "9y" "see paper; ..., microcephaly; cranial dysmorphism; severe developmental delay; severe intellectual disability; hypotonia (infancy), hypertonia; focal seizures; hyperactive; MRI brain normal; no genitourinary anomalies; no hepatobiliary anomalies; no cardiac anomalies; no skeletal anomalies; no ocular anomalies" "" "" "" "" "" "" "" "" "congenital disorder of glycosylation" "0000350817" "05461" "00465279" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., OFC 51.5 cm (-2.63); cranial dysmorphism; severe developmental delay; severe intellectual disability; febrile seizures; hyperactive, stereotypies; MRI brain normal; cryptorchidism; no hepatobiliary anomalies" "" "" "" "" "" "" "" "" "congenital disorder of glycosylation" "0000350818" "05461" "00465280" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., birth OFC 37 cm (1.41); OFC 51 cm (-2.18); cranial dysmorphism; severe developmental delay; severe Intellectual disability; normal muscle tone; absence seizures, myoclonic seizures, generalized tonic clonic seizures; stereotypies, anxiety; MRI brain bilateral high T2/low T1 signal in the putamina; no genitourinary anomalies; no hepatobiliary anomalies; no hepatobiliary anomalies; no skeletal anomalies; strabismus" "" "" "" "" "" "" "" "" "congenital disorder of glycosylation" "0000350819" "05461" "00465281" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., 8y-deceasaed; birth OFC 33.7 cm (-1.18); severe developmental delay; severe Intellectual disability; febrile clonic seizures; MRI brain hypoplastic corpus callosum; bilateral dilated pyelum and hydronephrosis, mega-ureter; bicuspid aortic valve, patent ductus arteriosus; cyclic neutropenia" "" "" "" "" "" "" "" "" "congenital disorder of glycosylation" "0000350820" "05461" "00465282" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., 7y-deceasaed; birth OFC 32.5 cm (-0.95); OFC 3y-45.5 cm (-4.01); cranial dysmorphism; seversevere developmental delay; nonverbal; severe Intellectual disability; central hypotonia; febrile clonic seizures; stereotypies; MRI brain L mesial temporal sclerosis, asymmetric cerebral hemisphere atrophy; no genitourinary anomalies; no hepatobiliary anomalies; small ventricular septal defect; no skeletal anomalies; cortical blindness; cyclic neutropenia" "" "" "" "" "" "" "" "" "congenital disorder of glycosylation" "0000350821" "05461" "00465283" "00006" "Familial, autosomal recessive" "10y7m" "see paper; ..., birth OFC 33 cm (-1.20); OFC 46.5 cm (-5.85); cranial dysmorphism; seversevere developmental delay; nonverbal; severe intellectual disability (IQ25); hypertonia; tonic seizures, generalized tonic clonic seizures; autism, hyperactive; MRI brain hypoplastic corpus callosum; no genitourinary anomalies; no hepatobiliary anomalies; no cardiac anomalies; arachnodactyly; no ocular anomalies; hirsutism" "" "" "" "" "" "" "" "" "congenital disorder of glycosylation" "0000350822" "05461" "00465284" "00006" "Familial, autosomal recessive" "8y1m" "see paper; ..., birth OFC 33.5 cm (-0.90); OFC 48.5 cm (-3.43); cranial dysmorphism; severe developmental delay; severe intellectual disability (IQ35); hypertonia; no seizures; autism, hyperactive; MRI brain bright hippocampi; no genitourinary anomalies; no hepatobiliary anomalies; no cardiac anomalies; arachnodactyly; no ocular anomalies; hirsutism" "" "" "" "" "" "" "" "" "congenital disorder of glycosylation" "0000350823" "05461" "00465285" "00006" "Familial, autosomal recessive" "6y3m" "see paper; ..., birth OFC 34 cm (-0.95); OFC 49 cm (-2.77); cranial dysmorphism; seversevere developmental delay; nonverbal; severe intellectual disability (IQ30); hypertonia; tonic seizures; autism, hyperactive; MRI brain abnormal T2 signal in anterior temporal lobes; no genitourinary anomalies; no hepatobiliary anomalies; no cardiac anomalies; arachnodactyly; no ocular anomalies; hirsutism" "" "" "" "" "" "" "" "" "congenital disorder of glycosylation" "0000350824" "05461" "00465286" "00006" "Familial, autosomal recessive" "11m" "see paper; ..., birth OFC 34 cm (-0.47); OFC 42.5 cm (-3.97); cranial dysmorphism; moderate developmental delay; hypertonia; no seizures; autism, anxiety; MRI brain thin corpus callosum; no genitourinary anomalies; no hepatobiliary anomalies; no cardiac anomalies; no skeletal anomalies; nystagmus" "" "" "" "" "" "" "" "" "congenital disorder of glycosylation" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000466920" "00465272" "1" "00006" "00006" "2025-05-05 17:43:47" "" "" "SEQ-NG" "DNA" "" "" "0000466921" "00465273" "1" "00006" "00006" "2025-05-05 17:43:47" "" "" "SEQ-NG" "DNA" "" "" "0000466922" "00465274" "1" "00006" "00006" "2025-05-05 17:43:47" "" "" "SEQ-NG" "DNA" "" "" "0000466923" "00465275" "1" "00006" "00006" "2025-05-05 17:43:47" "" "" "SEQ-NG" "DNA" "" "" "0000466924" "00465276" "1" "00006" "00006" "2025-05-05 17:43:47" "" "" "SEQ-NG" "DNA" "" "" "0000466925" "00465277" "1" "00006" "00006" "2025-05-05 17:43:47" "" "" "SEQ-NG" "DNA" "" "" "0000466926" "00465278" "1" "00006" "00006" "2025-05-05 17:43:47" "" "" "SEQ-NG" "DNA" "" "" "0000466927" "00465279" "1" "00006" "00006" "2025-05-05 17:43:47" "" "" "SEQ-NG" "DNA" "" "" "0000466928" "00465280" "1" "00006" "00006" "2025-05-05 17:43:47" "" "" "SEQ-NG" "DNA" "" "" "0000466929" "00465281" "1" "00006" "00006" "2025-05-05 17:43:47" "" "" "SEQ-NG" "DNA" "" "" "0000466930" "00465282" "1" "00006" "00006" "2025-05-05 17:43:47" "" "" "SEQ-NG" "DNA" "" "" "0000466931" "00465283" "1" "00006" "00006" "2025-05-05 17:43:47" "" "" "SEQ-NG" "DNA" "" "" "0000466932" "00465284" "1" "00006" "00006" "2025-05-05 17:43:47" "" "" "SEQ-NG" "DNA" "" "" "0000466933" "00465285" "1" "00006" "00006" "2025-05-05 17:43:47" "" "" "SEQ-NG" "DNA" "" "" "0000466934" "00465286" "1" "00006" "00006" "2025-05-05 17:43:47" "" "" "SEQ-NG" "DNA" "" "" ## 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 = 22 "{{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}}" "0000319250" "0" "30" "2" "128928775" "128928775" "subst" "0.00130174" "01943" "UGGT1_000001" "g.128928775C>T" "" "" "" "UGGT1(NM_020120.3):c.3025-4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128171201C>T" "" "likely benign" "" "0000319251" "0" "10" "2" "128934411" "128934411" "subst" "0.0020599" "01943" "UGGT1_000002" "g.128934411C>T" "" "" "" "UGGT1(NM_020120.3):c.3563C>T (p.P1188L, p.(Pro1188Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128176837C>T" "" "benign" "" "0000327228" "0" "50" "2" "128928775" "128928775" "subst" "0.00130174" "01804" "UGGT1_000001" "g.128928775C>T" "" "" "" "UGGT1(NM_020120.3):c.3025-4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128171201C>T" "" "VUS" "" "0000327229" "0" "50" "2" "128934411" "128934411" "subst" "0.0020599" "01804" "UGGT1_000002" "g.128934411C>T" "" "" "" "UGGT1(NM_020120.3):c.3563C>T (p.P1188L, p.(Pro1188Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128176837C>T" "" "VUS" "" "0000509167" "0" "30" "2" "128931424" "128931424" "subst" "0" "01943" "UGGT1_000003" "g.128931424A>T" "" "" "" "UGGT1(NM_020120.3):c.3364A>T (p.T1122S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128173850A>T" "" "likely benign" "" "0001030966" "11" "90" "2" "128865615" "128865618" "del" "0" "00006" "UGGT1_000006" "g.128865615_128865618del" "" "{PMID:Dardas 2025:40267907}, {DOI:Dardas 2025:10.1016/j.ajhg.2025.03.018}" "" "" "ACMG PVS1, PS3_Mod, PM2" "Germline" "" "" "0" "" "" "g.128108041_128108044del" "" "pathogenic (recessive)" "ACMG" "0001030967" "3" "70" "2" "128932357" "128932357" "subst" "0" "00006" "UGGT1_000011" "g.128932357A>G" "" "{PMID:Dardas 2025:40267907}, {DOI:Dardas 2025:10.1016/j.ajhg.2025.03.018}" "" "" "" "Germline" "" "" "0" "" "" "g.128174783A>G" "" "likely pathogenic (recessive)" "" "0001030968" "3" "90" "2" "128878777" "128878778" "del" "0" "00006" "UGGT1_000007" "g.128878777_128878778del" "" "{PMID:Dardas 2025:40267907}, {DOI:Dardas 2025:10.1016/j.ajhg.2025.03.018}" "" "" "ACMG PVS1, PM2, PM3_Supp, PP1_Mod" "Germline" "" "" "0" "" "" "g.128121203_128121204del" "" "pathogenic (recessive)" "ACMG" "0001030969" "3" "90" "2" "128878777" "128878778" "del" "0" "00006" "UGGT1_000007" "g.128878777_128878778del" "" "{PMID:Dardas 2025:40267907}, {DOI:Dardas 2025:10.1016/j.ajhg.2025.03.018}" "" "" "ACMG PVS1, PM2, PM3_Supp, PP1_Mod" "Germline" "" "" "0" "" "" "g.128121203_128121204del" "" "pathogenic (recessive)" "ACMG" "0001030970" "11" "70" "2" "128913093" "128913093" "subst" "0" "00006" "UGGT1_000010" "g.128913093T>C" "" "{PMID:Dardas 2025:40267907}, {DOI:Dardas 2025:10.1016/j.ajhg.2025.03.018}" "" "" "" "Germline" "" "" "0" "" "" "g.128155519T>C" "" "likely pathogenic (recessive)" "" "0001030971" "3" "90" "2" "128945182" "128945182" "subst" "0" "00006" "UGGT1_000008" "g.128945182C>T" "" "{PMID:Dardas 2025:40267907}, {DOI:Dardas 2025:10.1016/j.ajhg.2025.03.018}" "" "" "ACMG PVS1_Str, PS3_Mod, PM2, PP1_Str" "Germline" "" "" "0" "" "" "g.128187608C>T" "" "pathogenic (recessive)" "" "0001030972" "3" "90" "2" "128945182" "128945182" "subst" "0" "00006" "UGGT1_000008" "g.128945182C>T" "" "{PMID:Dardas 2025:40267907}, {DOI:Dardas 2025:10.1016/j.ajhg.2025.03.018}" "" "" "ACMG PVS1_Str, PS3_Mod, PM2, PP1_Str" "Germline" "" "" "0" "" "" "g.128187608C>T" "" "pathogenic (recessive)" "" "0001030973" "3" "90" "2" "128945182" "128945182" "subst" "0" "00006" "UGGT1_000008" "g.128945182C>T" "" "{PMID:Dardas 2025:40267907}, {DOI:Dardas 2025:10.1016/j.ajhg.2025.03.018}" "" "" "ACMG PVS1_Str, PS3_Mod, PM2, PP1_Str " "Germline" "" "" "0" "" "" "g.128187608C>T" "" "pathogenic (recessive)" "" "0001030974" "3" "70" "2" "128936143" "128936143" "subst" "4.11069E-6" "00006" "UGGT1_000005" "g.128936143G>A" "" "{PMID:Dardas 2025:40267907}, {DOI:Dardas 2025:10.1016/j.ajhg.2025.03.018}" "" "" "" "Germline" "" "" "0" "" "" "g.128178569G>A" "" "likely pathogenic (recessive)" "" "0001030975" "3" "70" "2" "128910473" "128910473" "subst" "0" "00006" "UGGT1_000004" "g.128910473C>T" "" "{PMID:Dardas 2025:40267907}, {DOI:Dardas 2025:10.1016/j.ajhg.2025.03.018}" "" "" "" "Germline" "" "" "0" "" "" "g.128152899C>T" "" "likely pathogenic (recessive)" "" "0001030976" "3" "70" "2" "128910473" "128910473" "subst" "0" "00006" "UGGT1_000004" "g.128910473C>T" "" "{PMID:Dardas 2025:40267907}, {DOI:Dardas 2025:10.1016/j.ajhg.2025.03.018}" "" "" "" "Germline" "" "" "0" "" "" "g.128152899C>T" "" "likely pathogenic (recessive)" "" "0001030977" "3" "90" "2" "128945182" "128945182" "subst" "0" "00006" "UGGT1_000008" "g.128945182C>T" "" "{PMID:Dardas 2025:40267907}, {DOI:Dardas 2025:10.1016/j.ajhg.2025.03.018}" "" "" "ACMG PVS1_Str, PS3_Mod, PM2, PP1_Str " "Germline" "" "" "0" "" "" "g.128187608C>T" "" "pathogenic (recessive)" "" "0001030978" "3" "90" "2" "128945182" "128945182" "subst" "0" "00006" "UGGT1_000008" "g.128945182C>T" "" "{PMID:Dardas 2025:40267907}, {DOI:Dardas 2025:10.1016/j.ajhg.2025.03.018}" "" "" "ACMG PVS1_Str, PS3_Mod, PM2, PP1_Str " "Germline" "" "" "0" "" "" "g.128187608C>T" "" "pathogenic (recessive)" "" "0001030979" "3" "90" "2" "128945182" "128945182" "subst" "0" "00006" "UGGT1_000008" "g.128945182C>T" "" "{PMID:Dardas 2025:40267907}, {DOI:Dardas 2025:10.1016/j.ajhg.2025.03.018}" "" "" "ACMG PVS1_Str, PS3_Mod, PM2, PP1_Str " "Germline" "" "" "0" "" "" "g.128187608C>T" "" "pathogenic (recessive)" "" "0001030980" "3" "90" "2" "128945182" "128945182" "subst" "0" "00006" "UGGT1_000008" "g.128945182C>T" "" "{PMID:Dardas 2025:40267907}, {DOI:Dardas 2025:10.1016/j.ajhg.2025.03.018}" "" "" "ACMG PVS1_Str, PS3_Mod, PM2, PP1_Str " "Germline" "" "" "0" "" "" "g.128187608C>T" "" "pathogenic (recessive)" "" "0001030981" "21" "70" "2" "128884968" "128884991" "del" "0" "00006" "UGGT1_000009" "g.128884968_128884991del" "" "{PMID:Dardas 2025:40267907}, {DOI:Dardas 2025:10.1016/j.ajhg.2025.03.018}" "" "" "" "Germline" "" "" "0" "" "" "g.128127394_128127417del" "" "likely pathogenic (recessive)" "" "0001030982" "21" "70" "2" "128938644" "128938644" "dup" "0" "00006" "UGGT1_000012" "g.128938644dup" "" "{PMID:Dardas 2025:40267907}, {DOI:Dardas 2025:10.1016/j.ajhg.2025.03.018}" "" "4081dupC" "" "Germline" "" "" "0" "" "" "g.128181070dup" "" "likely pathogenic (recessive)" "" ## 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 UGGT1 ## Count = 22 "{{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}}" "0000319250" "00022335" "30" "3025" "-4" "3025" "-4" "c.3025-4C>T" "r.spl?" "p.?" "" "0000319251" "00022335" "10" "3563" "0" "3563" "0" "c.3563C>T" "r.(?)" "p.(Pro1188Leu)" "" "0000327228" "00022335" "50" "3025" "-4" "3025" "-4" "c.3025-4C>T" "r.spl?" "p.?" "" "0000327229" "00022335" "50" "3563" "0" "3563" "0" "c.3563C>T" "r.(?)" "p.(Pro1188Leu)" "" "0000509167" "00022335" "30" "3364" "0" "3364" "0" "c.3364A>T" "r.(?)" "p.(Thr1122Ser)" "" "0001030966" "00022335" "90" "381" "0" "384" "0" "c.381_384del" "r.(?)" "p.(Tyr127Ter)" "" "0001030967" "00022335" "70" "3464" "0" "3464" "0" "c.3464A>G" "r.(?)" "p.(Gln1155Arg)" "" "0001030968" "00022335" "90" "978" "0" "979" "0" "c.978_979del" "r.(?)" "p.(Ser327PhefsTer13)" "" "0001030969" "00022335" "90" "978" "0" "979" "0" "c.978_979del" "r.(?)" "p.(Ser327PhefsTer13)" "" "0001030970" "00022335" "70" "2168" "0" "2168" "0" "c.2168T>C" "r.(?)" "p.(Phe723Ser)" "" "0001030971" "00022335" "90" "4636" "0" "4636" "0" "c.4636C>T" "r.(?)" "p.(Arg1546Ter)" "" "0001030972" "00022335" "90" "4636" "0" "4636" "0" "c.4636C>T" "r.(?)" "p.(Arg1546Ter)" "" "0001030973" "00022335" "90" "4636" "0" "4636" "0" "c.4636C>T" "r.(?)" "p.(Arg1546Ter)" "" "0001030974" "00022335" "70" "3815" "0" "3815" "0" "c.3815G>A" "r.spl?" "p.?" "" "0001030975" "00022335" "70" "2132" "0" "2132" "0" "c.2132C>T" "r.spl?" "p.?" "" "0001030976" "00022335" "70" "2132" "0" "2132" "0" "c.2132C>T" "r.spl?" "p.?" "" "0001030977" "00022335" "90" "4636" "0" "4636" "0" "c.4636C>T" "r.(?)" "p.(Arg1546Ter)" "" "0001030978" "00022335" "90" "4636" "0" "4636" "0" "c.4636C>T" "r.(?)" "p.(Arg1546Ter)" "" "0001030979" "00022335" "90" "4636" "0" "4636" "0" "c.4636C>T" "r.(?)" "p.(Arg1546Ter)" "" "0001030980" "00022335" "90" "4636" "0" "4636" "0" "c.4636C>T" "r.(?)" "p.(Arg1546Ter)" "" "0001030981" "00022335" "70" "1168" "0" "1191" "0" "c.1168_1191del" "r.(?)" "p.(Asp390_Gly397del)" "" "0001030982" "00022335" "70" "4081" "0" "4081" "0" "c.4081dup" "r.(?)" "p.(Gln1361ProfsTer27)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000466920" "0001030966" "0000466920" "0001030981" "0000466921" "0001030967" "0000466922" "0001030968" "0000466923" "0001030969" "0000466924" "0001030970" "0000466924" "0001030982" "0000466925" "0001030971" "0000466926" "0001030972" "0000466927" "0001030973" "0000466928" "0001030974" "0000466929" "0001030975" "0000466930" "0001030976" "0000466931" "0001030977" "0000466932" "0001030978" "0000466933" "0001030979" "0000466934" "0001030980"