### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = POGLUT1) # 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}}" "POGLUT1" "protein O-glucosyltransferase 1" "3" "q13.33" "unknown" "NG_034115.1" "UD_132610741281" "" "https://www.LOVD.nl/POGLUT1" "" "1" "22954" "56983" "615618" "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/POGLUT1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-06-29 18:35:02" "00006" "2026-03-06 17:26:39" ## 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}}" "00016472" "POGLUT1" "transcript variant 1" "002" "NM_152305.2" "" "NP_689518.1" "" "" "" "-84" "3449" "1179" "119187785" "119213555" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00033" "MHS1" "hyperthermia, malignant, susceptibility, type 1 (MHS-1)" "AD" "145600" "" "autosomal dominant" "" "00008" "2012-08-28 21:33:58" "00006" "2021-12-10 21:51:32" "04050" "DDD4" "disease, Dowling-Degos, type 4 (DDD4)" "AD" "615696" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-06-29 18:29:56" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05777" "LGMDR21;LGMD2Z" "dystrophy, muscular, limb-girdle, recessive, type 21 (LGMDR21, LGMD2Z)" "AR" "617232" "" "" "" "00006" "2020-06-29 18:32:52" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "POGLUT1" "04050" "POGLUT1" "05777" ## Individuals ## Do not remove or alter this header ## ## Count = 48 "{{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}}" "00000201" "" "" "" "63" "" "00030" "" "" "" "no" "Switzerland" "" "" "" "" "white" "" "00000202" "" "" "" "57" "" "00030" "" "" "" "no" "Switzerland" "" "" "" "" "white" "" "00305560" "" "" "" "4" "" "00006" "{PMID:Servián-Morilla 2016:27807076}" "3-generation family, 4 affected sibs (2F, 2M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Spain" "" "0" "" "" "" "FamPatII1" "00314391" "" "" "" "4" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314392" "" "" "" "2" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314393" "" "" "" "2" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314394" "" "" "" "2" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00395545" "" "" "" "1" "" "00006" "{PMID:Hanneken 2011:21971768}, {PMID:Basmanav 2014:24387993}" "patient" "" "" "Germany" "" "0" "" "" "" "patient" "00395546" "" "" "" "1" "" "00006" "{PMID:Basmanav 2014:24387993}" "patient" "" "" "Denmark" "" "0" "" "" "" "patient" "00395547" "" "" "" "1" "" "00006" "{PMID:Basmanav 2014:24387993}" "patient" "" "" "Switzerland" "" "0" "" "" "" "patient" "00395548" "" "" "" "1" "" "00006" "{PMID:Basmanav 2014:24387993}" "patient" "" "" "Germany" "" "0" "" "" "" "patient" "00395549" "" "" "" "1" "" "00006" "{PMID:Basmanav 2014:24387993}" "patient" "" "" "Germany" "" "0" "" "" "" "patient" "00395550" "" "" "" "2" "" "00006" "{PMID:Hanneken 2011:21971768}, {PMID:Basmanav 2014:24387993}" "2-generation family, affected father/son" "M" "" "Germany" "" "0" "" "" "" "FamGPatI1/II1" "00395551" "" "" "" "1" "" "00006" "{PMID:Basmanav 2014:24387993}" "patient" "" "" "Germany" "" "0" "" "" "" "patient" "00395552" "" "" "" "1" "" "00006" "{PMID:Basmanav 2014:24387993}" "patient" "" "" "Germany" "" "0" "" "" "" "patient" "00395553" "" "" "" "3" "" "00006" "{PMID:Hanneken 2011:21971768}, {PMID:Basmanav 2014:24387993}" "2-generation family, affected mother/2 daughters" "F" "" "Germany" "" "0" "" "" "" "FamHPatI1/II1/II2" "00395554" "" "" "" "1" "" "00006" "{PMID:Basmanav 2014:24387993}" "patient" "" "" "Germany" "" "0" "" "" "" "patient" "00395555" "" "" "" "1" "" "00006" "{PMID:Mauerer 2010:20664185}, {PMID:Basmanav 2014:24387993}" "patient" "F" "" "Germany" "" "0" "" "" "" "patient" "00395622" "" "" "00305560" "1" "" "00006" "{PMID:Servian-Morilla 2020:31897643}" "sister" "F" "" "Spain" "" "0" "" "" "" "Fam1PatII2" "00395623" "" "" "00305560" "1" "" "00006" "{PMID:Servian-Morilla 2020:31897643}" "sister" "F" "" "Spain" "" "0" "" "" "" "Fam1PatII4" "00395624" "" "" "00305560" "1" "" "00006" "{PMID:Servian-Morilla 2020:31897643}" "brother" "M" "" "Spain" "" "0" "" "" "" "Fam1PatII5" "00395625" "" "" "" "1" "" "00006" "{PMID:Servian-Morilla 2020:31897643}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Spain" "" "0" "" "" "" "Fam2PatII1" "00395626" "" "" "" "1" "" "00006" "{PMID:Servian-Morilla 2020:31897643}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Spain" "" "0" "" "" "" "Fam3PatII2" "00395627" "" "" "" "1" "" "00006" "{PMID:Servian-Morilla 2020:31897643}" "2-generation family, 3 affected sisters, unaffected heterozygous carrier parents" "F" "" "Bulgaria" "" "0" "" "" "" "Fam4PatII1" "00395628" "" "" "" "1" "" "00006" "{PMID:Servian-Morilla 2020:31897643}" "sister" "F" "" "Bulgaria" "" "0" "" "" "" "Fam4PatII2" "00395629" "" "" "" "1" "" "00006" "{PMID:Servian-Morilla 2020:31897643}" "sister" "F" "" "Bulgaria" "" "0" "" "" "" "Fam4PatII3" "00395630" "" "" "" "1" "" "00006" "{PMID:Servian-Morilla 2020:31897643}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Italy" "" "0" "" "" "" "Fam5PatII1" "00395631" "" "" "" "1" "" "00006" "{PMID:Servian-Morilla 2020:31897643}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Iran" "" "0" "" "" "" "Fam6PatII4" "00395632" "" "" "" "1" "" "00006" "{PMID:Servian-Morilla 2020:31897643}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Germany" "" "0" "" "" "" "Fam7PatII1" "00395633" "" "" "" "1" "" "00006" "{PMID:Servian-Morilla 2020:31897643}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "Fam8PatII1" "00395634" "" "" "" "1" "" "00006" "{PMID:Servian-Morilla 2020:31897643}" "brother" "M" "" "United States" "" "0" "" "" "" "Fam8PatII2" "00395635" "" "" "" "1" "" "00006" "{PMID:Servian-Morilla 2020:31897643}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "United Arab Emirates" "" "0" "" "" "" "Fam9PatII1" "00395639" "" "" "" "1" "" "00006" "{PMID:Ralser 2019:30414910}" "" "F" "" "" "" "0" "" "" "white" "" "00395640" "" "" "" "1" "" "00006" "{PMID:Ralser 2019:30414910}" "" "" "" "" "" "0" "" "" "" "" "00395641" "" "" "" "1" "" "00006" "{PMID:Ralser 2019:30414910}" "" "" "" "" "" "0" "" "" "" "" "00395642" "" "" "" "1" "" "00006" "{PMID:Ralser 2019:30414910}" "" "F" "" "" "" "0" "" "" "white" "" "00395643" "" "" "" "1" "" "00006" "{PMID:Ralser 2019:30414910}" "" "" "" "" "" "0" "" "" "" "" "00395644" "" "" "" "1" "" "00006" "{PMID:Ralser 2019:30414910}" "" "F" "" "" "" "0" "" "" "white" "" "00395645" "" "" "" "1" "" "00006" "{PMID:Ralser 2019:30414910}" "" "F" "" "" "" "0" "" "" "white" "" "00395646" "" "" "" "1" "" "00006" "{PMID:Ralser 2019:30414910}" "" "" "" "" "" "0" "" "" "" "" "00395647" "" "" "" "1" "" "00006" "{PMID:Ralser 2019:30414910}" "" "M" "" "Turkey" "" "0" "" "" "" "" "00395648" "" "" "" "1" "" "00006" "{PMID:Ralser 2019:30414910}" "" "F" "" "" "" "0" "" "" "white" "" "00395649" "" "" "" "1" "" "00006" "{PMID:Ralser 2019:30414910}" "" "" "" "" "" "0" "" "" "" "" "00395650" "" "" "" "1" "" "00006" "{PMID:Ralser 2019:30414910}" "" "F" "" "" "" "0" "" "" "white" "" "00395651" "" "" "" "1" "" "00006" "{PMID:Ralser 2019:30414910}" "" "F" "" "" "" "0" "" "" "white" "" "00395652" "" "" "" "1" "" "00006" "{PMID:Ralser 2019:30414910}" "" "M" "" "" "" "0" "" "" "white" "" "00473250" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam112760Pat454" "00473489" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam301691Pat842" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 48 "{{individualid}}" "{{diseaseid}}" "00000201" "00000" "00000202" "00033" "00305560" "05126" "00314391" "05126" "00314392" "05126" "00314393" "05126" "00314394" "05126" "00395545" "04050" "00395546" "04050" "00395547" "04050" "00395548" "04050" "00395549" "04050" "00395550" "04050" "00395551" "04050" "00395552" "04050" "00395553" "04050" "00395554" "04050" "00395555" "04050" "00395622" "05126" "00395623" "05126" "00395624" "05126" "00395625" "05126" "00395626" "05126" "00395627" "05126" "00395628" "05126" "00395629" "05126" "00395630" "05126" "00395631" "05126" "00395632" "05126" "00395633" "05126" "00395634" "05126" "00395635" "05126" "00395639" "04050" "00395640" "04050" "00395641" "04050" "00395642" "04050" "00395643" "04050" "00395644" "04050" "00395645" "04050" "00395646" "04050" "00395647" "04050" "00395648" "04050" "00395649" "04050" "00395650" "04050" "00395651" "04050" "00395652" "04050" "00473250" "05121" "00473489" "05126" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00033, 04050, 05121, 05126, 05777 ## Count = 42 "{{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}}" "0000288743" "04050" "00395545" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "DDD4" "Dowling-Degos disease" "0000288744" "04050" "00395546" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "DDD4" "Dowling-Degos disease" "0000288745" "04050" "00395547" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "DDD4" "Dowling-Degos disease" "0000288746" "04050" "00395548" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "DDD4" "Dowling-Degos disease" "0000288747" "04050" "00395549" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "DDD4" "Dowling-Degos disease" "0000288748" "04050" "00395550" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "DDD4" "Dowling-Degos disease" "0000288749" "04050" "00395551" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "DDD4" "Dowling-Degos disease" "0000288750" "04050" "00395552" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "DDD4" "Dowling-Degos disease" "0000288751" "04050" "00395553" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "DDD4" "Dowling-Degos disease" "0000288752" "04050" "00395554" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "DDD4" "Dowling-Degos disease" "0000288753" "04050" "00395555" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "DDD4" "Dowling-Degos disease" "0000288820" "05126" "00305560" "00006" "Familial, autosomal recessive" "60y" "lower limbs proximal MRC 2, lower limbs distal MRC 5, upper limbs proximal MRC 4, upper limbs distal MRC 5, CK level normal, scapular winging, FVC 0.29, 50y-wheelchair bound" "" "10y-20y" "" "" "" "" "" "LGMDR21" "LGMD, adult onset" "0000288821" "05126" "00395622" "00006" "Familial, autosomal recessive" "51y" "lower limbs proximal MRC 2, lower limbs distal MRC 5, upper limbs proximal MRC 4, upper limbs distal MRC 5, CK level normal, scapular winging, FVC 0.22, 44y-wheelchair bound" "10y-20y" "" "" "" "" "" "" "LGMDR21" "LGMD, adult onset" "0000288822" "05126" "00395623" "00006" "Familial, autosomal recessive" "50y" "lower limbs proximal MRC 2, lower limbs distal MRC 5, upper limbs proximal MRC 4, upper limbs distal MRC 5, CK level normal, scapular winging, FVC 0.91, not wheelchair bound" "20y-30y" "" "" "" "" "" "" "LGMDR21" "LGMD, adult onset" "0000288823" "05126" "00395624" "00006" "Familial, autosomal recessive" "42y" "lower limbs proximal MRC 2, lower limbs distal MRC 5, upper limbs proximal MRC 3, upper limbs distal MRC 5, CK level raised x3, scapular winging, not wheelchair bound" "20y-30y" "" "" "" "" "" "" "LGMDR21" "LGMD, adult onset" "0000288824" "05126" "00395625" "00006" "Familial, autosomal recessive" "24y" "lower limbs proximal MRC 2, lower limbs distal MRC 5, upper limbs proximal MRC 3-4, upper limbs distal MRC 5, CK level normal, scapular winging, FVC >0.80, 22y-wheelchair bound; elbow contracture, myopathic facies, arched palate" "00y-10y" "" "" "" "" "" "" "LGMDR21" "LGMD, congenital onset" "0000288825" "05126" "00395626" "00006" "Familial, autosomal recessive" "46y" "lower limbs proximal MRC 2, lower limbs distal MRC 5, upper limbs proximal MRC 2, upper limbs distal MRC 5, CK level raised x2, scapular winging, FVC 0.45, 33y-wheelchair bound; ankle contracture, calf hypertrophy, scoliosis, hyperlordosis" "00y-10y" "" "" "" "" "" "" "LGMDR21" "LGMD, infantile onset" "0000288826" "05126" "00395627" "00006" "Familial, autosomal recessive" "52y" "lower limbs proximal MRC 4-, lower limbs distal MRC 5, upper limbs proximal MRC 4, upper limbs distal MRC 5, CK level normal, scapular winging, FVC 0.72, not wheelchair bound" "40y-50y" "" "" "" "" "" "" "LGMDR21" "LGMD, adult onset" "0000288827" "05126" "00395628" "00006" "Familial, autosomal recessive" "47y" "lower limbs proximal MRC 2, lower limbs distal MRC 5, upper limbs proximal MRC 4, upper limbs distal MRC 5, CK level normal, scapular winging, FVC 0.53, not wheelchair bound" "20y-30y" "" "" "" "" "" "" "LGMDR21" "LGMD, adult onset" "0000288828" "05126" "00395629" "00006" "Familial, autosomal recessive" "50y" "lower limbs proximal MRC 2, lower limbs distal MRC 5, upper limbs proximal MRC 4, upper limbs distal MRC 5, CK level normal, scapular winging, FVC 0.76, not wheelchair bound" "20y-30y" "" "" "" "" "" "" "LGMDR21" "LGMD, adult onset" "0000288829" "05126" "00395630" "00006" "Familial, autosomal recessive" "38y" "lower limbs proximal MRC 2-3, lower limbs distal MRC 5, upper limbs proximal MRC 4, upper limbs distal MRC 5, CK level normal, scapular winging, FVC >0.80, not wheelchair bound; hyperlordosis" "20y-30y" "" "" "" "" "" "" "LGMDR21" "LGMD, adult onset" "0000288830" "05126" "00395631" "00006" "Familial, autosomal recessive" "22y" "lower limbs proximal MRC 2-3, lower limbs distal MRC 5, upper limbs proximal MRC 5, upper limbs distal MRC 5, CK level raised x6, no scapular winging, FVC 0.86, not wheelchair bound" "10y-20y" "" "" "" "" "" "" "LGMDR21" "LGMD, adult onset" "0000288831" "05126" "00395632" "00006" "Familial, autosomal recessive" "59y" "lower limbs proximal MRC 2-3, lower limbs distal MRC 5, upper limbs proximal MRC 3-4, upper limbs distal MRC 5, CK level raised x3, scapular winging, FVC 0.85, not wheelchair bound" "30y-40y" "" "" "" "" "" "" "LGMDR21" "LGMD, adult onset" "0000288832" "05126" "00395633" "00006" "Familial, autosomal recessive" "41y" "lower limbs proximal MRC 2-3, lower limbs distal MRC 4, upper limbs proximal MRC 4, upper limbs distal MRC 5, CK level raised x4, scapular winging, FVC 0.86, 38y-wheelchair bound" "10y-20y" "" "" "" "" "" "" "LGMDR21" "LGMD, adult onset" "0000288833" "05126" "00395634" "00006" "Familial, autosomal recessive" "35y" "lower limbs proximal MRC 2-3, lower limbs distal MRC 5, upper limbs proximal MRC 2-3, upper limbs distal MRC 4-5, CK level raised x10, scapular winging, FVC 0.27, 32y-wheelchair bound" "10y-20y" "" "" "" "" "" "" "LGMDR21" "LGMD, adult onset" "0000288834" "05126" "00395635" "00006" "Familial, autosomal recessive" "19y" "lower limbs proximal MRC 2-3, lower limbs distal MRC 4-5, upper limbs proximal MRC 2, upper limbs distal MRC 5, CK level raised x2, scapular winging, FVC 0.41, 13y-wheelchair bound; nystagmus, retinitis pigmentosa" "00y-10y" "" "" "" "" "" "" "LGMDR21" "LGMD, infantile onset" "0000288838" "04050" "00395639" "00006" "Familial, autosomal dominant" "" "no hyperpigmentation face, neck; hyperpigmentation trunk, axillae, extremeties, inframammary region, hands, feet, elbows, wrists, inguinal folds, genitals" "50y" "" "" "" "" "" "" "DDD4" "Dowling-Degos disease" "0000288839" "04050" "00395640" "00006" "Familial, autosomal dominant" "" "hyperpigmentation" "" "" "" "" "" "" "" "DDD4" "Dowling-Degos disease" "0000288840" "04050" "00395641" "00006" "Familial, autosomal dominant" "" "hyperpigmentation" "" "" "" "" "" "" "" "DDD4" "Dowling-Degos disease" "0000288841" "04050" "00395642" "00006" "Familial, autosomal dominant" "" "no hyperpigmentation axillae, inframammary region, feet, elbows, wrists, inguinal folds, genitals; hyperpigmentation face, neck, extremeties, hands" "27y" "" "" "" "" "" "" "DDD4" "Dowling-Degos disease" "0000288842" "04050" "00395643" "00006" "Familial, autosomal dominant" "" "hyperpigmentation" "" "" "" "" "" "" "" "DDD4" "Dowling-Degos disease" "0000288843" "04050" "00395644" "00006" "Familial, autosomal dominant" "" "no hyperpigmentation face, neck, hands, feet, elbows, wrists; hyperpigmentation trunk, axillae, extremeties, inframammary region, inguinal folds, genitals" "55y" "" "" "" "" "" "" "DDD4" "Dowling-Degos disease" "0000288844" "04050" "00395645" "00006" "Familial, autosomal dominant" "" "no hyperpigmentation face, neck, hands, feet, genitals; hyperpigmentation trunk, axillae, extremeties, inframammary region, elbows, wrists, inguinal folds" "50y" "" "" "" "" "" "" "DDD4" "Dowling-Degos disease" "0000288845" "04050" "00395646" "00006" "Familial, autosomal dominant" "" "hyperpigmentation" "" "" "" "" "" "" "" "DDD4" "Dowling-Degos disease" "0000288846" "04050" "00395647" "00006" "Familial, autosomal dominant" "" "no hyperpigmentation axillae, axillae, inframammary region, elbows, wrists, inguinal folds, genitals; hyperpigmentation face, neck, extremeties, hands, feet" "41y" "" "" "" "" "" "" "DDD4" "Dowling-Degos disease" "0000288847" "04050" "00395648" "00006" "Familial, autosomal dominant" "" "no hyperpigmentation face, neck, axillae, hands, feet, elbows, wrists, genitals; hyperpigmentation trunk, extremeties, inframammary region, inguinal folds" "55y" "" "" "" "" "" "" "DDD4" "Dowling-Degos disease" "0000288848" "04050" "00395649" "00006" "Familial, autosomal dominant" "" "hyperpigmentation" "" "" "" "" "" "" "" "DDD4" "Dowling-Degos disease" "0000288849" "04050" "00395650" "00006" "Familial, autosomal dominant" "" "no hyperpigmentation face, neck, axillae, inframammary region, hands, feet, elbows, wrists, inguinal folds, genitals; hyperpigmentation trunk, extremeties" "60y" "" "" "" "" "" "" "DDD4" "Dowling-Degos disease" "0000288850" "04050" "00395651" "00006" "Familial, autosomal dominant" "" "no hyperpigmentation trunk, trunk, axillae, hands, feet, elbows, wrists, inguinal folds, genitals; hyperpigmentation face, neck, extremeties, inframammary region" "43y" "" "" "" "" "" "" "DDD4" "Dowling-Degos disease" "0000288851" "04050" "00395652" "00006" "Familial, autosomal dominant" "" "no hyperpigmentation face, neck, axillae, hands, feet, elbows, inguinal folds, genitals; hyperpigmentation trunk, extremeties, inframammary region, wrists" "" "" "" "" "" "" "" "DDD4" "Dowling-Degos disease" "0000358045" "05121" "00473250" "00006" "Familial, autosomal recessive" "25y" "Delayed ability to walk; Lower muscle wasting, since childhood; Proximal muscle weakness, lower limbs, gradually extended to upper limbs; Hyperlordosis; Waddling gait; Gowers sign; EMG-NCV: myogenic process, limb-girdle muscular dystrophy; Muscle biopsy: compatible with muscular dystrophy with prominent intermyofibrillar network disruption as multiple core-like lesions and secondary neurogenic changes are evidence of reinnervations." "" "" "" "" "" "" "" "" "muscular dystrophy" "0000358284" "05126" "00473489" "00006" "Unknown" "23y" "sporadic case, age 23y old, started 6y with easy fatigability, proximal lower muscle weakness, walking and climbing difficulty, positive Gowers sign and CPK 137U/L" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" ## Screenings ## Do not remove or alter this header ## ## Count = 48 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000306689" "00305560" "1" "00006" "00006" "2020-06-29 18:41:45" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "" "0000315564" "00314391" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315565" "00314392" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315566" "00314393" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315567" "00314394" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000396783" "00395545" "1" "00006" "00006" "2021-12-08 13:40:26" "" "" "SEQ" "DNA" "" "" "0000396784" "00395546" "1" "00006" "00006" "2021-12-08 13:40:26" "" "" "SEQ" "DNA" "" "" "0000396785" "00395547" "1" "00006" "00006" "2021-12-08 13:40:26" "" "" "SEQ" "DNA" "" "" "0000396786" "00395548" "1" "00006" "00006" "2021-12-08 13:40:26" "" "" "SEQ" "DNA" "" "" "0000396787" "00395549" "1" "00006" "00006" "2021-12-08 13:40:26" "" "" "SEQ" "DNA" "" "" "0000396788" "00395550" "1" "00006" "00006" "2021-12-08 13:40:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000396789" "00395551" "1" "00006" "00006" "2021-12-08 13:40:26" "" "" "SEQ" "DNA" "" "" "0000396790" "00395552" "1" "00006" "00006" "2021-12-08 13:40:26" "" "" "SEQ" "DNA" "" "" "0000396791" "00395553" "1" "00006" "00006" "2021-12-08 13:40:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000396792" "00395554" "1" "00006" "00006" "2021-12-08 13:40:26" "" "" "SEQ" "DNA" "" "" "0000396793" "00395555" "1" "00006" "00006" "2021-12-08 13:40:26" "" "" "SEQ" "DNA" "" "" "0000396794" "00000201" "1" "00006" "00006" "2021-12-08 13:40:26" "" "" "SEQ" "DNA" "" "" "0000396795" "00000202" "1" "00006" "00006" "2021-12-08 13:40:26" "" "" "SEQ" "DNA" "" "" "0000396861" "00395622" "1" "00006" "00006" "2021-12-08 15:59:29" "" "" "SEQ" "DNA" "" "" "0000396862" "00395623" "1" "00006" "00006" "2021-12-08 15:59:29" "" "" "SEQ" "DNA" "" "" "0000396863" "00395624" "1" "00006" "00006" "2021-12-08 15:59:29" "" "" "SEQ" "DNA" "" "" "0000396864" "00395625" "1" "00006" "00006" "2021-12-08 15:59:29" "" "" "SEQ" "DNA" "" "" "0000396865" "00395626" "1" "00006" "00006" "2021-12-08 15:59:29" "" "" "SEQ" "DNA" "" "" "0000396866" "00395627" "1" "00006" "00006" "2021-12-08 15:59:29" "" "" "SEQ" "DNA" "" "" "0000396867" "00395628" "1" "00006" "00006" "2021-12-08 15:59:29" "" "" "SEQ" "DNA" "" "" "0000396868" "00395629" "1" "00006" "00006" "2021-12-08 15:59:29" "" "" "SEQ" "DNA" "" "" "0000396869" "00395630" "1" "00006" "00006" "2021-12-08 15:59:29" "" "" "SEQ" "DNA" "" "" "0000396870" "00395631" "1" "00006" "00006" "2021-12-08 15:59:29" "" "" "SEQ" "DNA" "" "" "0000396871" "00395632" "1" "00006" "00006" "2021-12-08 15:59:29" "" "" "SEQ" "DNA" "" "" "0000396872" "00395633" "1" "00006" "00006" "2021-12-08 15:59:29" "" "" "SEQ" "DNA" "" "" "0000396873" "00395634" "1" "00006" "00006" "2021-12-08 15:59:29" "" "" "SEQ" "DNA" "" "" "0000396874" "00395635" "1" "00006" "00006" "2021-12-08 15:59:29" "" "" "SEQ" "DNA" "" "" "0000396878" "00395639" "1" "00006" "00006" "2021-12-08 17:15:36" "" "" "SEQ" "DNA" "" "" "0000396879" "00395640" "1" "00006" "00006" "2021-12-08 17:15:36" "" "" "SEQ" "DNA" "" "" "0000396880" "00395641" "1" "00006" "00006" "2021-12-08 17:15:36" "" "" "SEQ" "DNA" "" "" "0000396881" "00395642" "1" "00006" "00006" "2021-12-08 17:15:36" "" "" "SEQ" "DNA" "" "" "0000396882" "00395643" "1" "00006" "00006" "2021-12-08 17:15:36" "" "" "SEQ" "DNA" "" "" "0000396883" "00395644" "1" "00006" "00006" "2021-12-08 17:15:36" "" "" "SEQ" "DNA" "" "" "0000396884" "00395645" "1" "00006" "00006" "2021-12-08 17:15:36" "" "" "SEQ" "DNA" "" "" "0000396885" "00395646" "1" "00006" "00006" "2021-12-08 17:15:36" "" "" "SEQ" "DNA" "" "" "0000396886" "00395647" "1" "00006" "00006" "2021-12-08 17:15:36" "" "" "SEQ" "DNA" "" "" "0000396887" "00395648" "1" "00006" "00006" "2021-12-08 17:15:36" "" "" "SEQ" "DNA" "" "" "0000396888" "00395649" "1" "00006" "00006" "2021-12-08 17:15:36" "" "" "SEQ" "DNA" "" "" "0000396889" "00395650" "1" "00006" "00006" "2021-12-08 17:15:36" "" "" "SEQ" "DNA" "" "" "0000396890" "00395651" "1" "00006" "00006" "2021-12-08 17:15:36" "" "" "SEQ" "DNA" "" "" "0000396891" "00395652" "1" "00006" "00006" "2021-12-08 17:15:36" "" "" "SEQ" "DNA" "" "" "0000474919" "00473250" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475158" "00473489" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 46 "{{screeningid}}" "{{geneid}}" "0000306689" "POGLUT1" "0000315564" "POGLUT1" "0000315565" "POGLUT1" "0000315566" "POGLUT1" "0000315567" "POGLUT1" "0000396783" "POGLUT1" "0000396784" "POGLUT1" "0000396785" "POGLUT1" "0000396786" "POGLUT1" "0000396787" "POGLUT1" "0000396788" "POGLUT1" "0000396789" "POGLUT1" "0000396790" "POGLUT1" "0000396791" "POGLUT1" "0000396792" "POGLUT1" "0000396793" "POGLUT1" "0000396794" "POGLUT1" "0000396795" "POGLUT1" "0000396861" "POGLUT1" "0000396862" "POGLUT1" "0000396863" "POGLUT1" "0000396864" "POGLUT1" "0000396865" "POGLUT1" "0000396866" "POGLUT1" "0000396867" "POGLUT1" "0000396868" "POGLUT1" "0000396869" "POGLUT1" "0000396870" "POGLUT1" "0000396871" "POGLUT1" "0000396872" "POGLUT1" "0000396873" "POGLUT1" "0000396874" "POGLUT1" "0000396878" "POGLUT1" "0000396879" "POGLUT1" "0000396880" "POGLUT1" "0000396881" "POGLUT1" "0000396882" "POGLUT1" "0000396883" "POGLUT1" "0000396884" "POGLUT1" "0000396885" "POGLUT1" "0000396886" "POGLUT1" "0000396887" "POGLUT1" "0000396888" "POGLUT1" "0000396889" "POGLUT1" "0000396890" "POGLUT1" "0000396891" "POGLUT1" ## 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 = 63 "{{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}}" "0000342271" "0" "90" "3" "119205693" "119205693" "subst" "2.43692E-5" "02327" "POGLUT1_000001" "g.119205693C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119486846C>T" "" "pathogenic" "" "0000608221" "0" "30" "3" "119190312" "119190312" "subst" "4.87413E-5" "02326" "POGLUT1_000002" "g.119190312G>A" "" "" "" "POGLUT1(NM_152305.3):c.320+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119471465G>A" "" "likely benign" "" "0000621157" "0" "30" "3" "119211285" "119211285" "subst" "0.000323401" "01943" "POGLUT1_000003" "g.119211285G>A" "" "" "" "POGLUT1(NM_152305.2):c.1179G>A (p.*393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119492438G>A" "" "likely benign" "" "0000670381" "3" "90" "3" "119205740" "119205740" "subst" "0" "00006" "POGLUT1_000004" "g.119205740T>G" "" "{PMID:Servián-Morilla 2016:27807076}" "" "" "" "Germline" "yes" "" "0" "" "" "g.119486893T>G" "" "pathogenic (recessive)" "" "0000697653" "0" "70" "3" "119190271" "119190271" "subst" "8.1217E-6" "00006" "POGLUT1_000006" "g.119190271C>T" "4/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.119471424C>T" "" "likely pathogenic" "" "0000697654" "0" "70" "3" "119188751" "119188751" "subst" "8.12414E-6" "00006" "POGLUT1_000005" "g.119188751A>G" "2/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.119469904A>G" "" "likely pathogenic" "" "0000697655" "0" "70" "3" "119190284" "119190284" "subst" "1.62435E-5" "00006" "POGLUT1_000007" "g.119190284G>T" "2/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.119471437G>T" "" "likely pathogenic" "" "0000697656" "0" "70" "3" "119209523" "119209523" "subst" "0" "00006" "POGLUT1_000008" "g.119209523G>T" "2/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.119490676G>T" "" "likely pathogenic" "" "0000719131" "0" "30" "3" "119204198" "119204198" "subst" "0.00229659" "01804" "POGLUT1_000009" "g.119204198A>G" "" "" "" "POGLUT1(NM_152305.2):c.602A>G (p.(Lys201Arg)), POGLUT1(NM_152305.3):c.602A>G (p.K201R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000828460" "1" "70" "3" "119187879" "119187879" "subst" "4.34254E-6" "00006" "POGLUT1_000011" "g.119187879G>A" "" "{PMID:Basmanav 2014:24387993}" "" "" "" "Germline" "" "" "0" "" "" "g.119469032G>A" "" "likely pathogenic (recessive)" "" "0000828461" "1" "70" "3" "119187879" "119187879" "subst" "4.34254E-6" "00006" "POGLUT1_000011" "g.119187879G>A" "" "{PMID:Basmanav 2014:24387993}" "" "" "" "Germline" "" "" "0" "" "" "g.119469032G>A" "" "likely pathogenic (recessive)" "" "0000828462" "1" "70" "3" "119190184" "119190184" "subst" "4.06088E-6" "00006" "POGLUT1_000016" "g.119190184C>T" "" "{PMID:Basmanav 2014:24387993}" "" "" "" "Germline" "" "" "0" "" "" "g.119471337C>T" "" "likely pathogenic (recessive)" "" "0000828463" "1" "70" "3" "119196233" "119196233" "subst" "2.03069E-5" "00006" "POGLUT1_000019" "g.119196233C>T" "" "{PMID:Basmanav 2014:24387993}" "" "" "" "Germline" "" "" "0" "" "" "g.119477386C>T" "" "likely pathogenic (recessive)" "" "0000828464" "1" "70" "3" "119204231" "119204231" "subst" "4.07518E-6" "00006" "POGLUT1_000024" "g.119204231C>G" "" "{PMID:Basmanav 2014:24387993}" "" "" "" "Germline" "" "" "0" "" "" "g.119485384C>G" "" "likely pathogenic (recessive)" "" "0000828465" "1" "70" "3" "119205693" "119205693" "subst" "2.43692E-5" "00006" "POGLUT1_000001" "g.119205693C>T" "" "{PMID:Basmanav 2014:24387993}" "" "" "" "Germline" "" "" "0" "" "" "g.119486846C>T" "" "likely pathogenic (recessive)" "" "0000828466" "1" "50" "3" "119205693" "119205693" "subst" "2.43692E-5" "00006" "POGLUT1_000001" "g.119205693C>T" "" "{PMID:Basmanav 2014:24387993}" "" "" "" "Germline" "" "" "0" "" "" "g.119486846C>T" "" "VUS" "" "0000828467" "1" "50" "3" "119209396" "119209396" "subst" "4.06303E-6" "00006" "POGLUT1_000026" "g.119209396A>C" "" "{PMID:Basmanav 2014:24387993}" "" "" "" "Germline" "" "" "0" "" "" "g.119490549A>C" "" "VUS" "" "0000828468" "1" "70" "3" "119209396" "119209396" "subst" "4.06303E-6" "00006" "POGLUT1_000026" "g.119209396A>C" "" "{PMID:Basmanav 2014:24387993}" "" "" "" "Germline" "" "" "0" "" "" "g.119490549A>C" "" "likely pathogenic (recessive)" "" "0000828469" "1" "70" "3" "119209396" "119209396" "subst" "4.06303E-6" "00006" "POGLUT1_000026" "g.119209396A>C" "" "{PMID:Basmanav 2014:24387993}" "" "" "" "Germline" "" "" "0" "" "" "g.119490549A>C" "" "likely pathogenic (recessive)" "" "0000828470" "1" "70" "3" "119209435" "119209435" "dup" "0" "00006" "POGLUT1_000027" "g.119209435dup" "" "{PMID:Basmanav 2014:24387993}" "" "c.833_834insC" "" "Germline" "" "" "0" "" "" "g.119490588dup" "" "likely pathogenic (recessive)" "" "0000828471" "1" "70" "3" "119209435" "119209435" "subst" "1.62433E-5" "00006" "POGLUT1_000028" "g.119209435C>T" "" "{PMID:Basmanav 2014:24387993}" "" "" "" "Germline" "" "" "0" "" "" "g.119490588C>T" "" "likely pathogenic (recessive)" "" "0000828472" "1" "70" "3" "119211131" "119211131" "del" "0" "00006" "POGLUT1_000031" "g.119211131del" "" "{PMID:Basmanav 2014:24387993}" "" "c.1023_1025delG" "" "Germline" "" "" "0" "" "" "g.119492284del" "" "likely pathogenic (recessive)" "" "0000828562" "3" "90" "3" "119205740" "119205740" "subst" "0" "00006" "POGLUT1_000004" "g.119205740T>G" "" "{PMID:Servian-Morilla 2020:31897643}" "" "D233E" "" "Germline" "" "" "0" "" "" "g.119486893T>G" "" "pathogenic (recessive)" "" "0000828563" "3" "90" "3" "119205740" "119205740" "subst" "0" "00006" "POGLUT1_000004" "g.119205740T>G" "" "{PMID:Servian-Morilla 2020:31897643}" "" "D233E" "" "Germline" "" "" "0" "" "" "g.119486893T>G" "" "pathogenic (recessive)" "" "0000828564" "3" "90" "3" "119205740" "119205740" "subst" "0" "00006" "POGLUT1_000004" "g.119205740T>G" "" "{PMID:Servian-Morilla 2020:31897643}" "" "D233E" "" "Germline" "" "" "0" "" "" "g.119486893T>G" "" "pathogenic (recessive)" "" "0000828565" "1" "90" "3" "119205740" "119205740" "subst" "0" "00006" "POGLUT1_000004" "g.119205740T>G" "" "{PMID:Servian-Morilla 2020:31897643}" "" "D233E" "" "Germline" "" "" "0" "" "" "g.119486893T>G" "" "pathogenic (recessive)" "" "0000828566" "3" "90" "3" "119196224" "119196224" "subst" "0" "00006" "POGLUT1_000018" "g.119196224A>T" "" "{PMID:Servian-Morilla 2020:31897643}" "" "I129T" "" "Germline" "" "" "0" "" "" "g.119477377A>T" "" "pathogenic (recessive)" "" "0000828567" "3" "90" "3" "119190271" "119190271" "subst" "8.1217E-6" "00006" "POGLUT1_000006" "g.119190271C>T" "" "{PMID:Servian-Morilla 2020:31897643}" "" "R98W" "" "Germline" "" "" "0" "" "" "g.119471424C>T" "" "pathogenic (recessive)" "" "0000828568" "3" "90" "3" "119190271" "119190271" "subst" "8.1217E-6" "00006" "POGLUT1_000006" "g.119190271C>T" "" "{PMID:Servian-Morilla 2020:31897643}" "" "R98W" "" "Germline" "" "" "0" "" "" "g.119471424C>T" "" "pathogenic (recessive)" "" "0000828569" "3" "90" "3" "119190271" "119190271" "subst" "8.1217E-6" "00006" "POGLUT1_000006" "g.119190271C>T" "" "{PMID:Servian-Morilla 2020:31897643}" "" "R98W" "" "Germline" "" "" "0" "" "" "g.119471424C>T" "" "pathogenic (recessive)" "" "0000828570" "3" "90" "3" "119188751" "119188751" "subst" "8.12414E-6" "00006" "POGLUT1_000005" "g.119188751A>G" "" "{PMID:Servian-Morilla 2020:31897643}" "" "Y57C" "" "Germline" "" "" "0" "" "" "g.119469904A>G" "" "pathogenic (recessive)" "" "0000828571" "3" "90" "3" "119209523" "119209523" "subst" "0" "00006" "POGLUT1_000008" "g.119209523G>T" "" "{PMID:Servian-Morilla 2020:31897643}" "" "W308L" "" "Germline" "" "" "0" "" "" "g.119490676G>T" "" "pathogenic (recessive)" "" "0000828572" "3" "90" "3" "119190284" "119190284" "subst" "1.62435E-5" "00006" "POGLUT1_000007" "g.119190284G>T" "" "{PMID:Servian-Morilla 2020:31897643}" "" "C102F" "" "Germline" "" "" "0" "" "" "g.119471437G>T" "" "pathogenic (recessive)" "" "0000828573" "1" "90" "3" "119198907" "119198907" "subst" "8.12817E-6" "00006" "POGLUT1_000020" "g.119198907T>A" "" "{PMID:Servian-Morilla 2020:31897643}" "" "Y156N" "" "Germline" "" "" "0" "" "" "g.119480060T>A" "" "pathogenic (recessive)" "" "0000828574" "1" "90" "3" "119198907" "119198907" "subst" "8.12817E-6" "00006" "POGLUT1_000020" "g.119198907T>A" "" "{PMID:Servian-Morilla 2020:31897643}" "" "Y156N" "" "Germline" "" "" "0" "" "" "g.119480060T>A" "" "pathogenic (recessive)" "" "0000828575" "3" "90" "3" "119198991" "119198991" "subst" "0" "00006" "POGLUT1_000021" "g.119198991T>A" "" "{PMID:Servian-Morilla 2020:31897643}" "" "R183W" "" "Germline" "" "" "0" "" "" "g.119480144T>A" "" "pathogenic (recessive)" "" "0000828576" "2" "90" "3" "119209436" "119209436" "subst" "8.12183E-6" "00006" "POGLUT1_000029" "g.119209436G>A" "" "{PMID:Servian-Morilla 2020:31897643}" "" "R279Q" "" "Germline" "" "" "0" "" "" "g.119490589G>A" "" "pathogenic (recessive)" "" "0000828577" "2" "90" "3" "119198993" "119198993" "subst" "0" "00006" "POGLUT1_000022" "g.119198993G>A" "" "{PMID:Servian-Morilla 2020:31897643}" "" "W184*" "" "Germline" "" "" "0" "" "" "g.119480146G>A" "" "pathogenic (recessive)" "" "0000828578" "2" "90" "3" "119198993" "119198993" "subst" "0" "00006" "POGLUT1_000022" "g.119198993G>A" "" "{PMID:Servian-Morilla 2020:31897643}" "" "W184*" "" "Germline" "" "" "0" "" "" "g.119480146G>A" "" "pathogenic (recessive)" "" "0000828583" "1" "90" "3" "119187888" "119187888" "subst" "0" "00006" "POGLUT1_000012" "g.119187888C>A" "" "{PMID:Ralser 2019:30414910}" "" "" "" "Germline" "" "" "0" "" "" "g.119469041C>A" "" "pathogenic (dominant)" "" "0000828584" "1" "90" "3" "119188702" "119188702" "del" "0" "00006" "POGLUT1_000013" "g.119188702del" "" "{PMID:Ralser 2019:30414910}" "" "121_121delA" "" "Germline" "" "" "0" "" "" "g.119469855del" "" "pathogenic (dominant)" "" "0000828585" "1" "90" "3" "119188711" "119188711" "subst" "0" "00006" "POGLUT1_000014" "g.119188711G>T" "" "{PMID:Ralser 2019:30414910}" "" "" "" "Germline" "" "" "0" "" "" "g.119469864G>T" "" "pathogenic (dominant)" "" "0000828586" "1" "90" "3" "119188719" "119188719" "subst" "0" "00006" "POGLUT1_000015" "g.119188719C>A" "" "{PMID:Ralser 2019:30414910}" "" "" "" "Germline" "" "" "0" "" "" "g.119469872C>A" "" "pathogenic (dominant)" "" "0000828587" "1" "90" "3" "119190300" "119190300" "subst" "0" "00006" "POGLUT1_000010" "g.119190300G>C" "" "{PMID:Ralser 2019:30414910}" "" "" "effect on RNA predicted from in vitro mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.119471453G>C" "" "pathogenic (dominant)" "" "0000828588" "1" "90" "3" "119190271" "119190271" "del" "0" "00006" "POGLUT1_000017" "g.119190271del" "" "{PMID:Ralser 2019:30414910}" "" "292_292delC" "" "Germline" "" "" "0" "" "" "g.119471424del" "" "pathogenic (dominant)" "" "0000828589" "1" "90" "3" "119190271" "119190271" "del" "0" "00006" "POGLUT1_000017" "g.119190271del" "" "{PMID:Ralser 2019:30414910}" "" "292_292delC" "" "Germline" "" "" "0" "" "" "g.119471424del" "" "pathogenic (dominant)" "" "0000828590" "1" "90" "3" "119204224" "119204224" "subst" "8.15268E-6" "00006" "POGLUT1_000023" "g.119204224C>T" "" "{PMID:Ralser 2019:30414910}" "" "" "" "Germline" "" "" "0" "" "" "g.119485377C>T" "" "pathogenic (dominant)" "" "0000828591" "1" "90" "3" "119205694" "119205694" "subst" "0" "00006" "POGLUT1_000025" "g.119205694G>A" "" "{PMID:Ralser 2019:30414910}" "" "" "" "Germline" "" "" "0" "" "" "g.119486847G>A" "" "pathogenic (dominant)" "" "0000828592" "1" "90" "3" "119209436" "119209436" "subst" "8.12183E-6" "00006" "POGLUT1_000029" "g.119209436G>A" "" "{PMID:Ralser 2019:30414910}" "" "" "" "Germline" "" "" "0" "" "" "g.119490589G>A" "" "pathogenic (dominant)" "" "0000828593" "1" "90" "3" "119210382" "119210382" "subst" "1.3212E-5" "00006" "POGLUT1_000030" "g.119210382T>G" "" "{PMID:Ralser 2019:30414910}" "" "c.938T>G" "" "Germline" "" "" "0" "" "" "g.119491535T>G" "" "pathogenic (dominant)" "" "0000828594" "1" "90" "3" "119211186" "119211186" "dup" "0" "00006" "POGLUT1_000033" "g.119211186dup" "" "{PMID:Ralser 2019:30414910}" "" "" "" "Germline" "" "" "0" "" "" "g.119492339dup" "" "pathogenic (dominant)" "" "0000828595" "1" "90" "3" "119211157" "119211157" "subst" "0" "00006" "POGLUT1_000032" "g.119211157C>T" "" "{PMID:Ralser 2019:30414910}" "" "" "" "Germline" "" "" "0" "" "" "g.119492310C>T" "" "pathogenic (dominant)" "" "0000828596" "1" "90" "3" "119211157" "119211157" "subst" "0" "00006" "POGLUT1_000032" "g.119211157C>T" "" "{PMID:Ralser 2019:30414910}" "" "" "" "Germline" "" "" "0" "" "" "g.119492310C>T" "" "pathogenic (dominant)" "" "0000885486" "0" "30" "3" "119204198" "119204198" "subst" "0.00229659" "02326" "POGLUT1_000009" "g.119204198A>G" "" "" "" "POGLUT1(NM_152305.2):c.602A>G (p.(Lys201Arg)), POGLUT1(NM_152305.3):c.602A>G (p.K201R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885487" "0" "90" "3" "119209396" "119209396" "subst" "4.06303E-6" "02327" "POGLUT1_000026" "g.119209396A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000885488" "0" "50" "3" "119210426" "119210426" "subst" "0.000315605" "01804" "POGLUT1_000034" "g.119210426G>A" "" "" "" "POGLUT1(NM_152305.2):c.1022+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960297" "0" "50" "3" "119209481" "119209481" "subst" "0" "03779" "POGLUT1_000035" "g.119209481G>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs774934277" "0" "" "" "" "" "VUS" "" "0001024704" "0" "50" "3" "119198949" "119198949" "subst" "8.14584E-6" "02329" "POGLUT1_000036" "g.119198949G>A" "" "" "" "POGLUT1(NM_152305.3):c.508G>A (p.G170R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033590" "0" "50" "3" "119205780" "119205781" "ins" "0" "01804" "POGLUT1_000037" "g.119205780_119205781insATACCTTAGGAAAGCCAGCTGCTAAGGATGTCCATCTTGTGGATCACTGCAAATACAAGTATCTGTT" "" "" "" "POGLUT1(NM_152305.3):c.738+1_738+2insATACCTTAGGAAAGCCAGCTGCTAAGGATGTCCATCTTGTGGATCACTGCAAATACAAGTATCTGTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045865" "0" "30" "3" "119211282" "119211282" "subst" "0.00118062" "02326" "POGLUT1_000038" "g.119211282A>G" "" "" "" "POGLUT1(NM_152305.3):c.1176A>G (p.L392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001064035" "0" "50" "3" "119205688" "119205688" "subst" "0" "01804" "POGLUT1_000039" "g.119205688C>T" "" "" "" "POGLUT1(NM_152305.3):c.647C>T (p.(Pro216Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001069317" "3" "70" "3" "119190271" "119190271" "subst" "8.1217E-6" "00006" "POGLUT1_000006" "g.119190271C>T" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2_mod, PS3_str, PP5, PP3" "Germline" "" "" "0" "" "" "g.119471424C>T" "SCV006075142" "likely pathogenic" "ACMG" "0001069554" "3" "50" "3" "119209400" "119209400" "subst" "0" "00006" "POGLUT1_000040" "g.119209400A>G" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PP3, PP4" "Germline" "" "" "0" "" "" "g.119490553A>G" "SCV006075143" "VUS" "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 POGLUT1 ## Count = 63 "{{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}}" "0000342271" "00016472" "90" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218Ter)" "" "0000608221" "00016472" "30" "320" "13" "320" "13" "c.320+13G>A" "r.(=)" "p.(=)" "" "0000621157" "00016472" "30" "1179" "0" "1179" "0" "c.1179G>A" "r.(?)" "p.(Ter393=)" "" "0000670381" "00016472" "90" "699" "0" "699" "0" "c.699T>G" "r.(?)" "p.(Asp233Glu)" "" "0000697653" "00016472" "70" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Trp)" "" "0000697654" "00016472" "70" "170" "0" "170" "0" "c.170A>G" "r.(?)" "p.(Tyr57Cys)" "" "0000697655" "00016472" "70" "305" "0" "305" "0" "c.305G>T" "r.(?)" "p.(Cys102Phe)" "" "0000697656" "00016472" "70" "923" "0" "923" "0" "c.923G>T" "r.(?)" "p.(Trp308Leu)" "" "0000719131" "00016472" "30" "602" "0" "602" "0" "c.602A>G" "r.(?)" "p.(Lys201Arg)" "" "0000828460" "00016472" "70" "11" "0" "11" "0" "c.11G>A" "r.(?)" "p.(Trp4Ter)" "" "0000828461" "00016472" "70" "11" "0" "11" "0" "c.11G>A" "r.(?)" "p.(Trp4Ter)" "" "0000828462" "00016472" "70" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Arg69Ter)" "" "0000828463" "00016472" "70" "394" "0" "394" "0" "c.394C>T" "r.(?)" "p.(Arg132Ter)" "" "0000828464" "00016472" "70" "635" "0" "635" "0" "c.635C>G" "r.(?)" "p.(Ser212Ter)" "" "0000828465" "00016472" "70" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218Ter)" "" "0000828466" "00016472" "50" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218Ter)" "" "0000828467" "00016472" "50" "798" "-2" "798" "-2" "c.798-2A>C" "r.spl" "p.?" "" "0000828468" "00016472" "70" "798" "-2" "798" "-2" "c.798-2A>C" "r.spl" "p.?" "" "0000828469" "00016472" "70" "798" "-2" "798" "-2" "c.798-2A>C" "r.spl" "p.?" "" "0000828470" "00016472" "70" "835" "0" "835" "0" "c.835dup" "r.(?)" "p.(Arg279ProfsTer3)" "" "0000828471" "00016472" "70" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Trp)" "" "0000828472" "00016472" "70" "1025" "0" "1025" "0" "c.1025del" "r.(?)" "p.(Gly342GlufsTer22)" "" "0000828562" "00016472" "90" "699" "0" "699" "0" "c.699T>G" "r.(?)" "p.(Asp233Glu)" "" "0000828563" "00016472" "90" "699" "0" "699" "0" "c.699T>G" "r.(?)" "p.(Asp233Glu)" "" "0000828564" "00016472" "90" "699" "0" "699" "0" "c.699T>G" "r.(?)" "p.(Asp233Glu)" "" "0000828565" "00016472" "90" "699" "0" "699" "0" "c.699T>G" "r.(?)" "p.(Asp233Glu)" "" "0000828566" "00016472" "90" "385" "0" "385" "0" "c.385A>T" "r.(?)" "p.(Ile129Phe)" "" "0000828567" "00016472" "90" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Trp)" "" "0000828568" "00016472" "90" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Trp)" "" "0000828569" "00016472" "90" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Trp)" "" "0000828570" "00016472" "90" "170" "0" "170" "0" "c.170A>G" "r.(?)" "p.(Tyr57Cys)" "" "0000828571" "00016472" "90" "923" "0" "923" "0" "c.923G>T" "r.(?)" "p.(Trp308Leu)" "" "0000828572" "00016472" "90" "305" "0" "305" "0" "c.305G>T" "r.(?)" "p.(Cys102Phe)" "" "0000828573" "00016472" "90" "466" "0" "466" "0" "c.466T>A" "r.(?)" "p.(Tyr156Asn)" "" "0000828574" "00016472" "90" "466" "0" "466" "0" "c.466T>A" "r.(?)" "p.(Tyr156Asn)" "" "0000828575" "00016472" "90" "547" "0" "547" "0" "c.547C>T" "r.(?)" "p.(Trp184Arg)" "" "0000828576" "00016472" "90" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279Gln)" "" "0000828577" "00016472" "90" "552" "0" "552" "0" "c.552G>A" "r.(?)" "p.(Trp184Ter)" "" "0000828578" "00016472" "90" "552" "0" "552" "0" "c.552G>A" "r.(?)" "p.(Trp184Ter)" "" "0000828583" "00016472" "90" "20" "0" "20" "0" "c.20C>A" "r.(?)" "p.(Ser7Ter)" "" "0000828584" "00016472" "90" "121" "0" "121" "0" "c.121del" "r.(?)" "p.(Arg41GlyfsTer21)" "" "0000828585" "00016472" "90" "130" "0" "130" "0" "c.130G>T" "r.(?)" "p.(Glu44Ter)" "" "0000828586" "00016472" "90" "138" "0" "138" "0" "c.138C>A" "r.(?)" "p.(Tyr46Ter)" "" "0000828587" "00016472" "90" "320" "1" "320" "1" "c.320+1G>A" "r.(177_320del)" "p.(Val60_Arg107del)" "" "0000828588" "00016472" "90" "292" "0" "292" "0" "c.292del" "r.(?)" "p.(Arg98GlyfsTer21)" "" "0000828589" "00016472" "90" "292" "0" "292" "0" "c.292del" "r.(?)" "p.(Arg98GlyfsTer21)" "" "0000828590" "00016472" "90" "628" "0" "628" "0" "c.628C>T" "r.(?)" "p.(Arg210Ter)" "" "0000828591" "00016472" "90" "653" "0" "653" "0" "c.653G>A" "r.(?)" "p.(Arg218Gln)" "" "0000828592" "00016472" "90" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279Gln)" "" "0000828593" "00016472" "90" "983" "0" "983" "0" "c.983T>G" "r.(?)" "p.(Val328Gly)" "" "0000828594" "00016472" "90" "1080" "0" "1081" "0" "c.1080_1081insG" "r.(?)" "p.(Asn361GlufsTer5)" "" "0000828595" "00016472" "90" "1051" "0" "1051" "0" "c.1051C>T" "r.(?)" "p.(Gln351Ter)" "" "0000828596" "00016472" "90" "1051" "0" "1051" "0" "c.1051C>T" "r.(?)" "p.(Gln351Ter)" "" "0000885486" "00016472" "30" "602" "0" "602" "0" "c.602A>G" "r.(?)" "p.(Lys201Arg)" "" "0000885487" "00016472" "90" "798" "-2" "798" "-2" "c.798-2A>C" "r.spl?" "p.?" "" "0000885488" "00016472" "50" "1022" "5" "1022" "5" "c.1022+5G>A" "r.spl?" "p.?" "" "0000960297" "00016472" "50" "881" "0" "881" "0" "c.881G>C" "r.(?)" "p.(Gly294Ala)" "" "0001024704" "00016472" "50" "508" "0" "508" "0" "c.508G>A" "r.(?)" "p.(Gly170Arg)" "" "0001033590" "00016472" "50" "738" "1" "738" "2" "c.738+1_738+2insATACCTTAGGAAAGCCAGCTGCTAAGGATGTCCATCTTGTGGATCACTGCAAATACAAGTATCTGTT" "r.spl?" "p.?" "" "0001045865" "00016472" "30" "1176" "0" "1176" "0" "c.1176A>G" "r.(?)" "p.(=)" "" "0001064035" "00016472" "50" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "" "0001069317" "00016472" "70" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Trp)" "" "0001069554" "00016472" "50" "800" "0" "800" "0" "c.800A>G" "r.(?)" "p.(Tyr267Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 51 "{{screeningid}}" "{{variantid}}" "0000306689" "0000670381" "0000315564" "0000697653" "0000315565" "0000697654" "0000315566" "0000697655" "0000315567" "0000697656" "0000396783" "0000828460" "0000396784" "0000828461" "0000396785" "0000828462" "0000396786" "0000828463" "0000396787" "0000828464" "0000396788" "0000828465" "0000396789" "0000828466" "0000396790" "0000828467" "0000396791" "0000828468" "0000396792" "0000828469" "0000396793" "0000828470" "0000396794" "0000828471" "0000396795" "0000828472" "0000396861" "0000828562" "0000396862" "0000828563" "0000396863" "0000828564" "0000396864" "0000828565" "0000396864" "0000828576" "0000396865" "0000828566" "0000396866" "0000828567" "0000396867" "0000828568" "0000396868" "0000828569" "0000396869" "0000828570" "0000396870" "0000828571" "0000396871" "0000828572" "0000396872" "0000828573" "0000396872" "0000828577" "0000396873" "0000828574" "0000396873" "0000828578" "0000396874" "0000828575" "0000396878" "0000828583" "0000396879" "0000828584" "0000396880" "0000828585" "0000396881" "0000828586" "0000396882" "0000828587" "0000396883" "0000828588" "0000396884" "0000828589" "0000396885" "0000828590" "0000396886" "0000828591" "0000396887" "0000828592" "0000396888" "0000828593" "0000396889" "0000828594" "0000396890" "0000828595" "0000396891" "0000828596" "0000474919" "0001069317" "0000475158" "0001069554"