### 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" "2023-06-02 12:01:30"
## 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 = 4
"{{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" "" ""
"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 = 11
"{{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" "" "yes" "Israel" "" "0" "" "mevalonolactone" "Bedouin" "family"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 11
"{{individualid}}" "{{diseaseid}}"
"00293903" "00198"
"00315861" "05121"
"00315862" "05121"
"00315863" "05121"
"00315864" "05121"
"00315865" "05121"
"00315866" "05121"
"00315867" "05121"
"00315868" "05121"
"00315869" "05121"
"00435168" "00141"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00141, 00198, 05121, 07012
## Count = 10
"{{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/Lung}}" "{{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" ""
## Screenings ## Do not remove or alter this header ##
## Count = 11
"{{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" "" ""
## 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 = 19
"{{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)" ""
## 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 = 19
"{{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)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 19
"{{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"