### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HMGCR) # 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}}" "HMGCR" "3-hydroxy-3-methylglutaryl-CoA reductase" "5" "q13.3-q14" "unknown" "NG_011449.1" "UD_132119154451" "" "https://www.LOVD.nl/HMGCR" "" "1" "5006" "3156" "142910" "1" "1" "1" "1" "Linked to recessive progressive muscular dystrophy Morales-Rosado ASHG2020.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/HMGCR_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-10-29 14:50:03" "00006" "2026-04-02 19:26:27" ## 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}}" "00009474" "HMGCR" "transcript variant 1" "001" "NM_000859.2" "" "NP_000850.1" "" "" "" "-156" "4426" "2667" "74632993" "74657926" "" "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}}" "00141" "LGMD2" "dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD-2)" "" "" "" "" "" "00006" "2013-06-10 21:06:19" "00006" "2021-12-11 13:56:28" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "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" "" "" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" "07012" "LGMDR28;MYPLG" "dystrophy, muscular, limb-girdle, autosomal recessive, type 28 (MYPLG)" "AR" "620375" "" "" "" "00006" "2023-06-02 10:39:26" "00006" "2024-01-12 21:14:20" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "HMGCR" "05121" "HMGCR" "07012" ## Individuals ## Do not remove or alter this header ## ## Count = 24 "{{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}}" "00293903" "" "" "" "23" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00315861" "" "" "" "1" "" "00006" "Morales-Rosado ASHG2020, {PMID:Morales-Rosado 2023:37167966}" "2-generation family, 1 affected, unaffected heterozygous carrier father" "F" "" "United States" "" "0" "" "" "" "Fam5PatII1" "00315862" "" "" "" "1" "" "00006" "Morales-Rosado ASHG2020, {PMID:Morales-Rosado 2023:37167966}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "" "Fam3PatII1" "00315863" "" "" "00315868" "1" "" "00006" "Morales-Rosado ASHG2020, {PMID:Morales-Rosado 2023:37167966}" "brother" "M" "" "United States" "" "0" "" "" "" "Fam1PatII3" "00315864" "" "" "00315868" "1" "" "00006" "Morales-Rosado ASHG2020, {PMID:Morales-Rosado 2023:37167966}" "brother" "M" "" "United States" "" "0" "" "" "" "Fam1PatII2" "00315865" "" "" "00315867" "1" "" "00006" "Morales-Rosado ASHG2020, {PMID:Morales-Rosado 2023:37167966}" "brother" "M" "" "United States" "" "0" "" "" "" "Fam2PatII2" "00315866" "" "" "00315869" "1" "" "00006" "Morales-Rosado ASHG2020, {PMID:Morales-Rosado 2023:37167966}" "brother" "M" "yes" "United States" "08y" "0" "" "" "" "Fam4PatII2" "00315867" "" "" "" "2" "" "00006" "Morales-Rosado ASHG2020, {PMID:Morales-Rosado 2023:37167966}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "" "Fam2PatII1" "00315868" "" "" "" "3" "" "00006" "Morales-Rosado ASHG2020, {PMID:Morales-Rosado 2023:37167966}" "2-generation family, 3 affected brothers, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "Fam1PatII1" "00315869" "" "" "" "2" "" "00006" "Morales-Rosado ASHG2020, {PMID:Morales-Rosado 2023:37167966}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F" "yes" "United States" "10y" "0" "" "" "" "Fam4PatII1" "00435168" "" "" "" "6" "" "00006" "{PMID:Yogev 2023:36745799}" "large family, 6 affected (2F, 4M)" "F;M" "yes" "Israel" "" "0" "" "mevalonolactone" "Bedouin" "family" "00472658" "" "" "" "1" "" "00006" "{PMID:Estevez-Arias 2025:39333429}" "patient" "" "" "" "" "0" "" "" "" "Pat52" "00475148" "" "" "" "3" "" "00006" "{PMID:El-Hayek 2026:41904993}" "5-generation family, 3 affected (brother/sister/brother), unaffected heterozygous carrier parents" "M" "yes" "Lebanon" "" "0" "" "" "" "Fam1PatV4" "00475149" "" "" "00475148" "1" "" "00006" "{PMID:El-Hayek 2026:41904993}" "sister" "F" "yes" "Lebanon" "" "0" "" "" "" "Fam1PatV3" "00475151" "" "" "" "1" "" "00006" "{PMID:El-Hayek 2026:41904993}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Lebanon" "" "0" "" "" "" "Fam2PatIV4" "00475152" "" "" "" "2" "" "00006" "{PMID:El-Hayek 2026:41904993}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F" "yes" "Iran" "" "0" "" "" "" "Fam3PatIV1" "00475153" "" "" "00475152" "1" "" "00006" "{PMID:El-Hayek 2026:41904993}" "brother" "M" "yes" "Iran" "9y8m" "0" "" "" "" "Fam3PatIV2" "00475154" "" "" "" "1" "" "00006" "{PMID:Torella 2023:37418012}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Iran" "4m" "0" "" "" "" "Fam4PatIV1" "00475155" "" "" "" "3" "" "00006" "{PMID:El-Hayek 2026:41904993}" "4-generation family, 3 affected, unaffected (boy/2 nieces) heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "Fam5PatIV4" "00475156" "" "" "00475155" "1" "" "00006" "{PMID:El-Hayek 2026:41904993}" "niece" "F" "yes" "Turkey" "" "0" "" "" "" "Fam5PatIV6" "00475157" "" "" "" "1" "" "00006" "{PMID:El-Hayek 2026:41904993}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "Fam6PatIII1" "00475158" "" "" "" "1" "" "00006" "{PMID:Gunasekaran 2025:39823152}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat2" "00475159" "" "" "" "1" "" "00006" "{PMID:Gunasekaran 2025:39823152}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat3" "00475160" "" "" "" "1" "" "00006" "{PMID:Upadia 2026:41344164}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "United States" "" "0" "" "" "Yemen" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 24 "{{individualid}}" "{{diseaseid}}" "00293903" "00198" "00315861" "05121" "00315862" "05121" "00315863" "05121" "00315864" "05121" "00315865" "05121" "00315866" "05121" "00315867" "05121" "00315868" "05121" "00315869" "05121" "00435168" "00141" "00472658" "05618" "00475148" "05126" "00475149" "05126" "00475151" "05126" "00475152" "05126" "00475153" "05126" "00475154" "05126" "00475155" "05126" "00475156" "05126" "00475157" "05126" "00475158" "05126" "00475159" "05126" "00475160" "05126" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00141, 00198, 05121, 05126, 05618, 07012 ## Count = 23 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000239606" "05121" "00315861" "00006" "Familial, autosomal recessive" "35y" "see paper; ..., 16y-first elevated CK (HP:0003236), 7,424; proximal weakness (HP:0003701); axial weakness (HP:0003327); muscle atrophy (HP:0003202), diffuse; no calf hypertrophy (-HP:0008981); myalgias (HP:0003326); reduced deep tendon reflexes (HP:0001315); loss of ambulation (HP:0002505), wheelchair; reduced respiratory function (HP:0002747), continuous non-invasive ventilation; no cardiac abnormalities (-HP:0001627); rapid disease progression (HP:0003678)" "16y" "" "" "" "" "" "" "MYPLG" "muscular dystrophy" "" "0000239607" "05121" "00315862" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., 20m-first elevated CK (HP:0003236), 2,263-6,040; proximal weakness (HP:0003701); axial weakness (HP:0003327); no muscle atrophy (-HP:0003202); no calf hypertrophy (-HP:0008981); myalgias (HP:0003326); no reduced deep tendon reflexes (-HP:0001315); no gait disturbance (-HP:0001288); no loss of ambulation (-HP:0002505); reduced respiratory function (HP:0002747), non-invasive ventilation; no cardiac abnormalities (-HP:0001627); slow, stable isease progression (HP: 0003677)" "00y20m" "" "" "" "" "" "" "MYPLG" "muscular dystrophy" "" "0000239608" "05121" "00315863" "00006" "Familial, autosomal recessive" "39y" "see paper; ..., 10y-first elevated CK (HP:0003236); proximal weakness (HP:0003701); no calf hypertrophy (-HP:0008981); no myalgias (-HP:0003326); no loss of ambulation (-HP:0002505); no cardiac abnormalities (-HP:0001627)" "10y" "" "" "" "" "" "" "MYPLG" "muscular dystrophy" "" "0000239609" "05121" "00315864" "00006" "Familial, autosomal recessive" "37y" "see paper; ..., 8y-first elevated CK (HP:0003236); proximal weakness (HP:0003701); axial weakness (HP:0003327); no calf hypertrophy (-HP:0008981); no myalgias (-HP:0003326); no reduced deep tendon reflexes (-HP:0001315); gait disturbance (HP:0001288), waddling gait; no loss of ambulation (-HP:0002505); no cardiac abnormalities (-HP:0001627)" "08y" "" "" "" "" "" "" "MYPLG" "muscular dystrophy" "" "0000239610" "05121" "00315865" "00006" "Familial, autosomal recessive" "22y" "see paper; ..., 13y-first elevated CK (HP:0003236), 2,000-3,000; proximal weakness (HP:0003701); axial weakness (HP:0003327); muscle atrophy (HP:0003202), diffuse; no calf hypertrophy (-HP:0008981); no myalgias (-HP:0003326); reduced deep tendon reflexes (HP:0001315); gait disturbance (HP:0001288), waddling gait; loss of ambulation (HP:0002505), wheelchair; reduced respiratory function (HP:0002747); no cardiac abnormalities (-HP:0001627); rapid disease progression (HP:0003678)" "13y" "" "" "" "" "" "" "MYPLG" "muscular dystrophy" "" "0000239611" "05121" "00315866" "00006" "Familial, autosomal recessive" "08y" "see paper; ..., 8y-deceased, 1y-first elevated CK (HP:0003236), 4,203; proximal weakness (HP:0003701); axial weakness (HP:0003327); calf hypertrophy (HP:0008981); no myalgias (-HP:0003326); reduced deep tendon reflexes (HP:0001315); gait disturbance (HP:0001288), poor heel strike; loss of ambulation (HP:0002505); reduced respiratory function (HP:0002747); no cardiac abnormalities (-HP:0001627); rapid disease progression (HP:0003678)" "01y" "" "" "" "" "" "" "MYPLG" "muscular dystrophy" "" "0000239612" "05121" "00315867" "00006" "Familial, autosomal recessive" "19y" "see paper; ..., 7y-first elevated CK (HP:0003236), 8,500-12,600; proximal weakness (HP:0003701); no axial weakness (-HP:0003327); no muscle atrophy (-HP:0003202); no calf hypertrophy (-HP:0008981); no myalgias (-HP:0003326); reduced deep tendon reflexes (HP:0001315); gait disturbance (HP:0001288), waddling gait; no loss of ambulation (-HP:0002505), limited, assisted ambulation; no cardiac abnormalities (-HP:0001627); rapid disease progression (HP:0003678)" "07y" "" "" "" "" "" "" "MYPLG" "muscular dystrophy" "" "0000239613" "05121" "00315868" "00006" "Familial, autosomal recessive" "35y" "see paper; ..., 6y-first elevated CK (HP:0003236), 1,378-4,325; proximal weakness (HP:0003701); axial weakness (HP:0003327); muscle atrophy (HP:0003202), proximal; calf hypertrophy (HP:0008981); myalgias (HP:0003326); reduced deep tendon reflexes (HP:0001315); gait disturbance (HP:0001288), waddling gait; no loss of ambulation (-HP:0002505), limited, assisted ambulation; reduced respiratory function (HP:0002747), non-invasive ventilation; no cardiac abnormalities (-HP:0001627); slow, stable isease progression (HP: 0003677)" "06y" "" "" "" "" "" "" "MYPLG" "muscular dystrophy" "" "0000239614" "05121" "00315869" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., 10y-deceased, 2y-first elevated CK (HP:0003236),11,551-18,185; proximal weakness (HP:0003701); axial weakness (HP:0003327); muscle atrophy (HP:0003202), diffuse; calf hypertrophy (HP:0008981); no myalgias (-HP:0003326); reduced deep tendon reflexes (HP:0001315); gait disturbance (HP:0001288), Trendelenburg and stiff gait, poor heel strike; loss of ambulation (HP:0002505); reduced respiratory function (HP:0002747); no cardiac abnormalities (-HP:0001627); rapid disease progression (HP:0003678)" "02y" "" "" "" "" "" "" "MYPLG" "muscular dystrophy" "" "0000325373" "00141" "00435168" "00006" "Familial, autosomal recessive" "" "adult-onset limb-girdle myopathy; 31y-40y-onset progressive proximal muscle weakness affects upper and lower limbs; older patients lost ambulation, developed respiratory insufficiency" "" "" "" "" "" "" "" "MYPLG" "limb-girdle myopathy" "" "0000357454" "05618" "00472658" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000359862" "05126" "00475148" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., Gowers’ sign; severe muscle atrophy; no calf hypertrophy; proximal weakness; axial weakness; lumbar lordosis; scoliosis; no deep tendon reflexes; severe gait disturbance; 24y-loss ambulation; myalgias; respiratory involvement, rigid chest, vital capacity blow 0.50, tracheotomized; elevated CK level (1200 U/L); rapid disease progression" "28y" "" "" "" "" "" "" "LGMDR28" "limb-girdle muscular dystrophy" "" "0000359863" "05126" "00475149" "00006" "Familial, autosomal recessive" "<14y" "see paper; ..., Gowers’ sign; severe muscle atrophy; no calf hypertrophy; proximal weakness; axial weakness; lumbar lordosis; scoliosis; no deep tendon reflexes; severe gait disturbance; 27y-loss ambulation; myalgias; respiratory involvement, tracheotomized; rapid disease progression" "34y" "" "" "" "" "" "" "LGMDR28" "limb-girdle muscular dystrophy" "" "0000359865" "05126" "00475151" "00006" "Familial, autosomal recessive" "2y6m" "see paper; ..., Gowers’ sign; severe muscle atrophy; mild calf hypertrophy; proximal weakness; axial weakness; lumbar lordosis; scoliosis; no deep tendon reflexes; severe gait disturbance; ambulant; no myalgias; no respiratory involvement; elevated CK level (6000 U/L); moderate disease progression" "15y" "" "" "" "" "" "" "LGMDR28" "limb-girdle muscular dystrophy" "" "0000359866" "05126" "00475152" "00006" "Familial, autosomal recessive" "1d" "see paper; ..., Gowers’ sign; no muscle atrophy; no calf hypertrophy; mild proximal weakness; axial weakness; no lumbar lordosis; no scoliosis; no deep tendon reflexes; severe gait disturbance; ambulant; myalgias; mild respiratory involvement; elevated CK level (2700 U/L); slow disease progression" "13y" "" "" "" "" "" "" "LGMDR28" "limb-girdle muscular dystrophy" "" "0000359867" "05126" "00475153" "00006" "Familial, autosomal recessive" "1d" "see paper; ..., 9y8m-deceased (respiratory failure, liver failure); Gowers’ sign; no calf hypertrophy; mild proximal weakness; axial weakness; no lumbar lordosis; no scoliosis; no deep tendon reflexes; severe gait disturbance; 9y-loss ambulation; myalgias; respiratory failure; elevated CK level (7000 U/L); rapid disease progression" "9y" "" "" "" "" "" "" "LGMDR28" "limb-girdle muscular dystrophy" "" "0000359868" "05126" "00475154" "00006" "Familial, autosomal recessive" "1m" "see paper; ..., 4m-deceased (respiratory failure); mild muscle atrophy; no proximal weakness; no axial weakness; no lumbar lordosis; no scoliosis; diminished no deep tendon reflexes; respiratory failure; rapid disease progression" "3m" "" "" "" "" "" "" "LGMDR28" "limb-girdle muscular dystrophy" "" "0000359869" "05126" "00475155" "00006" "Familial, autosomal recessive" "1y" "see paper; ..., Gowers’ sign; muscle atrophy; calf hypertrophy; proximal weakness; axial weakness; no lumbar lordosis; scoliosis; no deep tendon reflexes; no gait disturbance, tip toe walking; ambulant; no myalgias; no respiratory involvement; elevated CK level (9000 U/L); slow disease progression" "6y" "" "" "" "" "" "" "LGMDR28" "limb-girdle muscular dystrophy" "" "0000359870" "05126" "00475156" "00006" "Familial, autosomal recessive" "" "see paper; ..., Gowers’ sign; muscle atrophy; calf hypertrophy; proximal weakness; axial weakness; no lumbar lordosis; scoliosis; diminished no deep tendon reflexes; no gait disturbance, tip toe walking; ambulant; myalgias; no respiratory involvement; elevated CK level (3022 U/L); slow disease progression" "9y" "" "" "" "" "" "" "LGMDR28" "limb-girdle muscular dystrophy" "" "0000359871" "05126" "00475157" "00006" "Familial, autosomal recessive" "1y" "see paper; ..., Gowers’ sign; no muscle atrophy; mild calf hypertrophy; proximal weakness; axial weakness; lumbar lordosis; no scoliosis; deep tendon reflexes; no gait disturbance; ambulant; no myalgias; elevated CK level (1365-8000 U/L); moderate disease progression" "10y" "" "" "" "" "" "" "LGMDR28" "limb-girdle muscular dystrophy" "" "0000359872" "05126" "00475158" "00006" "Familial, autosomal recessive" "" "see paper; ..., 28m-walk, exercise intolerance, inability to run, dysphagia, normal neurocognitive development" "28m" "" "" "" "" "" "" "LGMDR28" "limb-girdle muscular dystrophy" "" "0000359873" "05126" "00475159" "00006" "Familial, autosomal recessive" "5y" "see paper; ..., 3y-recurrent episodes emesis, incidental finding elevated serum creatine kinase level (12,474 U/L); 15m-walk; 3y-difficulty rising from floor, difficulty climbing stairs; 5y-neck flexor,axial weakness, proximal limb weakness, no calf pseudohypertrophy, normal neurocognitive development" "3y" "" "" "" "" "" "" "LGMDR28" "limb-girdle muscular dystrophy" "" "0000359874" "05126" "00475160" "00006" "Familial, autosomal recessive" "00y05m" "see paper; ..., 5m-deceased; pregnancy complicated by gestational diabetes; birth hypotonic, elevated serum CK level (9253 U/L); 5m-respiratory failure, respiratory tract infection, hypotonia, muscle atrophy, diminished deep tendon reflexes; no calf hypertrophy, no organomegaly" "" "" "" "" "" "" "" "LGMDR28" "LGMD" "" ## Screenings ## Do not remove or alter this header ## ## Count = 24 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000295071" "00293903" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000317041" "00315861" "1" "00006" "00006" "2020-10-29 16:12:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000317042" "00315862" "1" "00006" "00006" "2020-10-29 16:12:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000317043" "00315863" "1" "00006" "00006" "2020-10-29 16:12:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000317044" "00315864" "1" "00006" "00006" "2020-10-29 16:12:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000317045" "00315865" "1" "00006" "00006" "2020-10-29 16:12:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000317046" "00315866" "1" "00006" "00006" "2020-10-29 16:12:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000317047" "00315867" "1" "00006" "00006" "2020-10-29 16:12:56" "00006" "2023-06-02 11:08:18" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000317048" "00315868" "1" "00006" "00006" "2020-10-29 16:12:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000317049" "00315869" "1" "00006" "00006" "2020-10-29 16:12:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000436641" "00435168" "1" "00006" "00006" "2023-06-02 11:56:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000474326" "00472658" "1" "00006" "00006" "2026-02-25 09:06:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000476831" "00475148" "1" "00006" "00006" "2026-04-02 18:54:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000476832" "00475149" "1" "00006" "00006" "2026-04-02 18:54:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000476834" "00475151" "1" "00006" "00006" "2026-04-02 18:54:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000476835" "00475152" "1" "00006" "00006" "2026-04-02 18:54:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476836" "00475153" "1" "00006" "00006" "2026-04-02 18:54:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476837" "00475154" "1" "00006" "00006" "2026-04-02 18:54:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476838" "00475155" "1" "00006" "00006" "2026-04-02 18:54:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476839" "00475156" "1" "00006" "00006" "2026-04-02 18:54:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476840" "00475157" "1" "00006" "00006" "2026-04-02 18:54:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476841" "00475158" "1" "00006" "00006" "2026-04-02 19:09:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476842" "00475159" "1" "00006" "00006" "2026-04-02 19:09:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476843" "00475160" "1" "00006" "00006" "2026-04-02 19:24:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000317041" "HMGCR" "0000317042" "HMGCR" "0000317043" "HMGCR" "0000317044" "HMGCR" "0000317045" "HMGCR" "0000317046" "HMGCR" "0000317047" "HMGCR" "0000317048" "HMGCR" "0000317049" "HMGCR" ## 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 = 34 "{{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}}" "0000651760" "1" "50" "5" "74655498" "74655498" "subst" "0" "03575" "HMGCR_000001" "g.74655498T>G" "23/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 23 heterozygous, no homozygous; {DB:CLININrs17238540}" "Germline" "" "rs17238540" "0" "" "" "g.75359673T>G" "" "VUS" "" "0000699223" "3" "70" "5" "74650360" "74650360" "subst" "0" "00006" "HMGCR_000010" "g.74650360C>G" "" "Morales-Rosado ASHG2020, {PMID:Morales-Rosado 2023:37167966}" "" "" "variant not detected in father, possible paternal uniparental disomy" "Unknown" "" "" "0" "" "" "g.75354535C>G" "" "likely pathogenic (recessive)" "" "0000699224" "21" "70" "5" "74650503" "74650503" "subst" "1.25911E-5" "00006" "HMGCR_000011" "g.74650503G>C" "" "Morales-Rosado ASHG2020, {PMID:Morales-Rosado 2023:37167966}" "" "" "" "Germline" "" "" "0" "" "" "g.75354678G>C" "" "likely pathogenic (recessive)" "" "0000699225" "21" "70" "5" "74647387" "74647387" "subst" "4.06468E-6" "00006" "HMGCR_000004" "g.74647387G>A" "" "Morales-Rosado ASHG2020, {PMID:Morales-Rosado 2023:37167966}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000699226" "11" "70" "5" "74651334" "74651334" "subst" "0" "00006" "HMGCR_000003" "g.74651334G>A" "" "Morales-Rosado ASHG2020, {PMID:Morales-Rosado 2023:37167966}" "" "" "" "Germline" "yes" "" "0" "" "" "g.75355509G>A" "" "likely pathogenic (recessive)" "" "0000699227" "11" "70" "5" "74655299" "74655299" "subst" "0" "00006" "HMGCR_000002" "g.74655299A>G" "" "Morales-Rosado ASHG2020, {PMID:Morales-Rosado 2023:37167966}" "" "" "" "Germline" "yes" "" "0" "" "" "g.75359474A>G" "" "likely pathogenic (recessive)" "" "0000699228" "21" "70" "5" "74650481" "74650483" "del" "0" "00006" "HMGCR_000007" "g.74650481_74650483del" "" "Morales-Rosado ASHG2020, {PMID:Morales-Rosado 2023:37167966}" "" "" "" "Germline" "yes" "" "0" "" "" "g.75354656_75354658del" "" "likely pathogenic (recessive)" "" "0000699229" "21" "70" "5" "74640161" "74640161" "subst" "0" "00006" "HMGCR_000009" "g.74640161A>G" "" "Morales-Rosado ASHG2020, {PMID:Morales-Rosado 2023:37167966}" "" "" "RNA analysis shows 0.88 paternal variant" "Germline" "yes" "" "0" "" "" "g.75344336A>G" "" "likely pathogenic (recessive)" "" "0000699230" "21" "70" "5" "74647387" "74647387" "subst" "4.06468E-6" "00006" "HMGCR_000004" "g.74647387G>A" "" "Morales-Rosado ASHG2020, {PMID:Morales-Rosado 2023:37167966}" "" "" "" "Germline" "yes" "" "0" "" "" "g.75351562G>A" "" "likely pathogenic (recessive)" "" "0000699231" "11" "70" "5" "74647386" "74647386" "subst" "0" "00006" "HMGCR_000008" "g.74647386C>T" "" "Morales-Rosado ASHG2020, {PMID:Morales-Rosado 2023:37167966}" "" "" "" "Germline" "yes" "" "0" "" "" "g.75351561C>T" "" "likely pathogenic (recessive)" "" "0000699339" "11" "70" "5" "74655299" "74655299" "subst" "0" "00006" "HMGCR_000002" "g.74655299A>G" "" "Morales-Rosado ASHG2020, {PMID:Morales-Rosado 2023:37167966}" "" "" "RNA analysis shows 0.88 paternal variant" "Germline" "yes" "" "0" "" "" "g.75359474A>G" "" "likely pathogenic (recessive)" "" "0000699340" "11" "70" "5" "74651334" "74651334" "subst" "0" "00006" "HMGCR_000003" "g.74651334G>A" "" "Morales-Rosado ASHG2020, {PMID:Morales-Rosado 2023:37167966}" "" "" "" "Germline" "yes" "" "0" "" "" "g.75355509G>A" "" "likely pathogenic (recessive)" "" "0000699341" "21" "70" "5" "74647387" "74647387" "subst" "0" "00006" "HMGCR_000004" "g.74647387C>A" "" "Morales-Rosado ASHG2020, {PMID:Morales-Rosado 2023:37167966}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000699342" "11" "70" "5" "74650954" "74650954" "subst" "0" "00006" "HMGCR_000005" "g.74650954T>C" "" "Morales-Rosado ASHG2020, {PMID:Morales-Rosado 2023:37167966}" "" "" "" "Germline" "" "" "0" "" "" "g.75355129T>C" "" "likely pathogenic (recessive)" "" "0000699343" "11" "70" "5" "74651334" "74651334" "subst" "0" "00006" "HMGCR_000003" "g.74651334G>A" "" "Morales-Rosado ASHG2020, {PMID:Morales-Rosado 2023:37167966}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000699344" "21" "70" "5" "74650481" "74650483" "del" "0" "00006" "HMGCR_000007" "g.74650481_74650483del" "" "Morales-Rosado ASHG2020, {PMID:Morales-Rosado 2023:37167966}" "" "1517_1519delTCT" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000699345" "11" "70" "5" "74647386" "74647386" "subst" "0" "00006" "HMGCR_000008" "g.74647386C>T" "" "Morales-Rosado ASHG2020, {PMID:Morales-Rosado 2023:37167966}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000699346" "21" "70" "5" "74640161" "74640161" "subst" "0" "00006" "HMGCR_000009" "g.74640161A>G" "" "Morales-Rosado ASHG2020, {PMID:Morales-Rosado 2023:37167966}" "" "" "" "Germline" "yes" "" "0" "" "" "g.75344336A>G" "" "likely pathogenic (recessive)" "" "0000927713" "3" "90" "5" "74655817" "74655817" "subst" "0" "00006" "HMGCR_000012" "g.74655817G>A" "" "" "" "" "not in 210 ethnically matched controls; in vitro functional studies in SH-SY5Y cells showed variant protein had normal subcellular localization, but decreased activity" "Germline" "yes" "" "0" "" "" "g.75359992G>A" "" "pathogenic (recessive)" "" "0001051996" "0" "50" "5" "74640082" "74640082" "subst" "4.53552E-5" "01804" "HMGCR_000013" "g.74640082T>A" "" "" "" "HMGCR(NM_000859.3):c.290T>A (p.(Leu97His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001068622" "3" "70" "5" "74650481" "74650483" "del" "0" "00006" "HMGCR_000007" "g.74650481_74650483del" "" "{PMID:Estevez-Arias 2025:39333429}" "" "" "ACMG PM2, PM4, PP5, PM3" "Germline" "" "" "0" "" "" "g.75354656_75354658del" "" "likely pathogenic (recessive)" "" "0001070734" "0" "50" "5" "74650427" "74650427" "subst" "0" "03779" "HMGCR_000014" "g.74650427C>T" "" "" "" "" "" "Unknown" "" "rs1277575286" "0" "" "" "" "" "VUS" "" "0001071879" "3" "70" "5" "74655871" "74655871" "subst" "1.21898E-5" "00006" "HMGCR_000007" "g.74655871G>A" "" "{PMID:El-Hayek 2026:41904993}" "" "" "" "Germline" "yes" "rs755619444" "0" "" "" "g.75360046G>A" "" "likely pathogenic (recessive)" "ACMG" "0001071880" "3" "70" "5" "74655871" "74655871" "subst" "1.21898E-5" "00006" "HMGCR_000007" "g.74655871G>A" "" "{PMID:El-Hayek 2026:41904993}" "" "" "" "Germline" "yes" "rs755619444" "0" "" "" "g.75360046G>A" "" "likely pathogenic (recessive)" "ACMG" "0001071881" "3" "70" "5" "74655871" "74655871" "subst" "1.21898E-5" "00006" "HMGCR_000007" "g.74655871G>A" "" "{PMID:El-Hayek 2026:41904993}" "" "" "" "Germline" "" "rs755619444" "0" "" "" "g.75360046G>A" "" "likely pathogenic (recessive)" "ACMG" "0001071882" "3" "70" "5" "74655871" "74655871" "subst" "1.21898E-5" "00006" "HMGCR_000007" "g.74655871G>A" "" "{PMID:El-Hayek 2026:41904993}" "" "" "" "Germline" "yes" "rs755619444" "0" "" "" "g.75360046G>A" "" "likely pathogenic (recessive)" "ACMG" "0001071883" "3" "70" "5" "74655871" "74655871" "subst" "1.21898E-5" "00006" "HMGCR_000007" "g.74655871G>A" "" "{PMID:El-Hayek 2026:41904993}" "" "" "" "Germline" "yes" "rs755619444" "0" "" "" "g.75360046G>A" "" "likely pathogenic (recessive)" "ACMG" "0001071884" "3" "50" "5" "74651251" "74651251" "subst" "0" "00006" "HMGCR_000007" "g.74651251G>A" "" "{PMID:El-Hayek 2026:41904993}" "" "" "" "Germline" "" "rs1381726485" "0" "" "" "g.75355426G>A" "" "VUS" "ACMG" "0001071885" "3" "70" "5" "74650481" "74650483" "del" "0" "00006" "HMGCR_000007" "g.74650481_74650483del" "" "{PMID:El-Hayek 2026:41904993}" "" "" "" "Germline" "yes" "" "0" "" "" "g.75354656_75354658del" "2506435" "likely pathogenic (recessive)" "ACMG" "0001071886" "3" "70" "5" "74650481" "74650483" "del" "0" "00006" "HMGCR_000007" "g.74650481_74650483del" "" "{PMID:El-Hayek 2026:41904993}" "" "" "" "Germline" "yes" "" "0" "" "" "g.75354656_75354658del" "2506435" "likely pathogenic (recessive)" "ACMG" "0001071887" "3" "50" "5" "74651250" "74651250" "subst" "4.06167E-6" "00006" "HMGCR_000007" "g.74651250C>T" "" "{PMID:El-Hayek 2026:41904993}" "" "" "" "Germline" "" "rs193026499" "0" "" "" "g.75355425C>T" "" "VUS" "ACMG" "0001071888" "3" "90" "5" "74650938" "74650938" "subst" "0" "00006" "HMGCR_000016" "g.74650938G>A" "" "{PMID:Gunasekaran 2025:39823152}" "" "" "" "Germline" "" "" "0" "" "" "g.75355113G>A" "" "pathogenic (recessive)" "" "0001071889" "3" "90" "5" "74650481" "74650483" "del" "0" "00006" "HMGCR_000007" "g.74650481_74650483del" "" "{PMID:Gunasekaran 2025:39823152}" "" "" "" "Germline" "" "" "0" "" "" "g.75354656_75354658del" "" "pathogenic (recessive)" "" "0001071890" "3" "70" "5" "74652208" "74652208" "subst" "0" "00006" "HMGCR_000015" "g.74652208C>T" "" "{PMID:Upadia 2026:41344164}" "" "" "" "Germline" "" "" "0" "" "" "g.75356383C>T" "" "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 HMGCR ## Count = 34 "{{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}}" "0000651760" "00009474" "50" "2457" "117" "2457" "117" "c.2457+117T>G" "r.(=)" "p.(=)" "" "0000699223" "00009474" "70" "1401" "0" "1401" "0" "c.1401C>G" "r.(?)" "p.(Ile467Met)" "" "0000699224" "00009474" "70" "1544" "0" "1544" "0" "c.1544G>C" "r.(?)" "p.(Arg515Thr)" "" "0000699225" "00009474" "70" "1328" "0" "1328" "0" "c.1328G>A" "r.(?)" "p.(Arg443Gln)" "" "0000699226" "00009474" "70" "1867" "0" "1867" "0" "c.1867G>A" "r.(?)" "p.(Asp623Asn)" "" "0000699227" "00009474" "70" "2375" "0" "2375" "0" "c.2375A>G" "r.(?)" "p.(Tyr792Cys)" "" "0000699228" "00009474" "70" "1522" "0" "1524" "0" "c.1522_1524del" "r.(?)" "p.(Ser508del)" "" "0000699229" "00009474" "70" "365" "4" "365" "4" "c.365+4A>G" "r.[0,=]" "p.[0,=]" "" "0000699230" "00009474" "70" "1328" "0" "1328" "0" "c.1328G>A" "r.(?)" "p.(Arg443Gln)" "" "0000699231" "00009474" "70" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Trp)" "" "0000699339" "00009474" "70" "2375" "0" "2375" "0" "c.2375A>G" "r.2375a>g" "p.Tyr792Cys" "" "0000699340" "00009474" "70" "1867" "0" "1867" "0" "c.1867G>A" "r.(?)" "p.(Asp623Asn)" "" "0000699341" "00009474" "70" "1328" "0" "1328" "0" "c.1328G>A" "r.(?)" "p.(Arg443Gln)" "" "0000699342" "00009474" "70" "1637" "0" "1637" "0" "c.1637T>C" "r.(?)" "p.(Leu546Ser)" "" "0000699343" "00009474" "70" "1867" "0" "1867" "0" "c.1867G>A" "r.(?)" "p.(Asp623Asn)" "" "0000699344" "00009474" "70" "1522" "0" "1524" "0" "c.1522_1524del" "r.(?)" "p.(Ser508del)" "" "0000699345" "00009474" "70" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Trp)" "" "0000699346" "00009474" "70" "365" "4" "365" "4" "c.365+4A>G" "r.spl?" "p.?" "" "0000927713" "00009474" "90" "2465" "0" "2465" "0" "c.2465G>A" "r.(?)" "p.(Gly822Asp)" "" "0001051996" "00009474" "50" "290" "0" "290" "0" "c.290T>A" "r.(?)" "p.(Leu97His)" "" "0001068622" "00009474" "70" "1522" "0" "1524" "0" "c.1522_1524del" "r.(?)" "p.(Ser508del)" "" "0001070734" "00009474" "50" "1468" "0" "1468" "0" "c.1468C>T" "r.(?)" "p.(Arg490Cys)" "" "0001071879" "00009474" "70" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Glu415Lys)" "19" "0001071880" "00009474" "70" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Glu415Lys)" "19" "0001071881" "00009474" "70" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Glu415Lys)" "19" "0001071882" "00009474" "70" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Glu415Lys)" "19" "0001071883" "00009474" "70" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Glu415Lys)" "19" "0001071884" "00009474" "50" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Glu415Lys)" "14" "0001071885" "00009474" "70" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Glu415Lys)" "12" "0001071886" "00009474" "70" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Glu415Lys)" "12" "0001071887" "00009474" "50" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Glu415Lys)" "14" "0001071888" "00009474" "90" "1621" "0" "1621" "0" "c.1621G>A" "r.(?)" "p.(Ala541Thr)" "" "0001071889" "00009474" "90" "1522" "0" "1524" "0" "c.1522_1524delTCT" "r.(?)" "p.(Ser508del)" "" "0001071890" "00009474" "70" "1921" "0" "1921" "0" "c.1921C>T" "r.(?)" "p.(Arg641Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{variantid}}" "0000295071" "0000651760" "0000317041" "0000699223" "0000317042" "0000699224" "0000317042" "0000699342" "0000317043" "0000699225" "0000317043" "0000699343" "0000317044" "0000699226" "0000317044" "0000699341" "0000317045" "0000699227" "0000317045" "0000699346" "0000317046" "0000699228" "0000317046" "0000699345" "0000317047" "0000699229" "0000317047" "0000699339" "0000317048" "0000699230" "0000317048" "0000699340" "0000317049" "0000699231" "0000317049" "0000699344" "0000436641" "0000927713" "0000474326" "0001068622" "0000476831" "0001071879" "0000476832" "0001071880" "0000476834" "0001071881" "0000476835" "0001071882" "0000476836" "0001071883" "0000476837" "0001071884" "0000476838" "0001071885" "0000476839" "0001071886" "0000476840" "0001071887" "0000476841" "0001071888" "0000476842" "0001071889" "0000476843" "0001071890"