### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ABCA2) # 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}}" "ABCA2" "ATP-binding cassette, sub-family A (ABC1), member 2" "9" "q34" "unknown" "NG_011789.1" "UD_132118655235" "" "https://www.LOVD.nl/ABCA2" "" "1" "32" "20" "600047" "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/ABCA2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-05-22 10:01:15" "00000" "2025-05-05 21:14:00" ## 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}}" "00025509" "ABCA2" "transcript variant 2" "001" "NM_212533.2" "" "NP_997698.1" "" "" "" "-50" "8096" "7401" "139923374" "139901686" "00006" "2020-05-22 09:59:51" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "06836" "IDPOGSA" "Intellectual developmental disorder with poor growth and with or without seizures or ataxia" "AR" "618808" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ABCA2" "06836" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00301695" "" "" "" "1" "" "00006" "{PMID:Maddirevula 2019:30237576}" "" "M" "" "Saudi Arabia" "" "0" "" "" "" "16-2987" "00301696" "" "" "" "1" "" "00006" "{PMID:Maddirevula 2019:30237576}" "" "F" "" "" "" "0" "" "" "" "16DG0071" "00387797" "" "" "" "3" "" "00006" "{PMID:Hu 2019:29302074}" "family, 3 affected individuals, first cousin parents" "" "yes" "" "" "0" "" "" "Baloch" "M8600615" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00301695" "00198" "00301696" "00198" "00387797" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 06836 ## Count = 3 "{{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}}" "0000228793" "00198" "00301695" "00006" "Familial, autosomal recessive" "10y" "history of global developmental delay and epilepsy. He was born full term. His birth weight was 3.5 kg. He had multiple admissions in the first year of life for fever, diarrhea, vomiting and seizures. He has global developmental delay. Parents are distantly related. He has one brother and three sisters, all of whom are healthy. He has mild dysmorphic features with prominent forehead and somewhat deep-set eyes. He has no birth marks or hepatosplenomegaly. Pupils, extraocular muscles, facial, and tongue movements are all symmetrical and normal. He has diffuse hypotonia and weakness but moves all his extremities against gravity. He localized to pain upon stimulation throughout. Brain MRI was unremarkable." "" "" "" "" "" "" "" "" "" "" "" "0000228794" "00198" "00301696" "00006" "Familial, autosomal recessive" "13y" "G1P0 19 yr old mother, pregnancy was uncomplicated. She developed epilepsy at 9 months of age with concomitant developmental delay. She is short (131.5 cm), microcephalic (50 cm). She had significant internal rotation of the hips especially the left. MRI showed small pituitary gland. Parents are first cousins and have two healthy daughters." "" "" "" "" "" "" "" "" "" "" "" "0000281365" "00139" "00387797" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly (SD-2), epilepsy" "" "" "" "" "" "" "" "" "" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000302819" "00301695" "1" "00006" "00006" "2020-05-22 17:20:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000302820" "00301696" "1" "00006" "00006" "2020-05-22 17:20:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000389028" "00387797" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000302819" "ABCA2" "0000302820" "ABCA2" "0000389028" "ABCA2" ## 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 = 43 "{{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}}" "0000261577" "0" "30" "9" "139914893" "139914893" "subst" "0.00469264" "01943" "ABCA2_000003" "g.139914893C>T" "" "" "" "ABCA2(NM_212533.2):c.1410G>A (p.T470=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137020441C>T" "" "likely benign" "" "0000261578" "0" "50" "9" "139906990" "139906990" "subst" "0.00324071" "01943" "ABCA2_000001" "g.139906990C>T" "" "" "" "ABCA2(NM_001606.4):c.5134G>A (p.(Gly1712Ser)), ABCA2(NM_001606.5):c.5134G>A (p.G1712S), ABCA2(NM_212533.3):c.5224G>A (p.G1742S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137012538C>T" "" "VUS" "" "0000261579" "0" "30" "9" "139916039" "139916039" "subst" "0" "01943" "ABCA2_000004" "g.139916039G>A" "" "" "" "ABCA2(NM_001606.5):c.702C>T (p.L234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137021587G>A" "" "likely benign" "" "0000332930" "0" "50" "9" "139906990" "139906990" "subst" "0.00324071" "01804" "ABCA2_000001" "g.139906990C>T" "" "" "" "ABCA2(NM_001606.4):c.5134G>A (p.(Gly1712Ser)), ABCA2(NM_001606.5):c.5134G>A (p.G1712S), ABCA2(NM_212533.3):c.5224G>A (p.G1742S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137012538C>T" "" "VUS" "" "0000332931" "0" "50" "9" "139913530" "139913530" "subst" "0.000235162" "01804" "ABCA2_000002" "g.139913530T>C" "" "" "" "ABCA2(NM_001606.4):c.1555-8A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137019078T>C" "" "VUS" "" "0000332932" "0" "50" "9" "139916337" "139916337" "subst" "0" "01804" "ABCA2_000005" "g.139916337C>T" "" "" "" "ABCA2(NM_001606.4):c.678+6G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137021885C>T" "" "VUS" "" "0000537511" "0" "30" "9" "139903412" "139903412" "subst" "0" "01943" "ABCA2_000006" "g.139903412G>C" "" "" "" "ABCA2(NM_001606.5):c.6921C>G (p.A2307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137008960G>C" "" "likely benign" "" "0000537512" "0" "30" "9" "139905491" "139905491" "subst" "2.05029E-5" "01943" "ABCA2_000007" "g.139905491G>A" "" "" "" "ABCA2(NM_001606.5):c.5990C>T (p.A1997V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137011039G>A" "" "likely benign" "" "0000537513" "0" "50" "9" "139905695" "139905695" "subst" "0" "01943" "ABCA2_000008" "g.139905695G>A" "" "" "" "ABCA2(NM_001606.5):c.5866C>T (p.H1956Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137011243G>A" "" "VUS" "" "0000537514" "0" "30" "9" "139907692" "139907692" "subst" "0" "01943" "ABCA2_000009" "g.139907692G>A" "" "" "" "ABCA2(NM_001606.5):c.4629C>T (p.C1543=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137013240G>A" "" "likely benign" "" "0000537515" "0" "30" "9" "139907969" "139907969" "subst" "0" "01943" "ABCA2_000010" "g.139907969G>A" "" "" "" "ABCA2(NM_001606.5):c.4494C>T (p.Y1498=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137013517G>A" "" "likely benign" "" "0000537516" "0" "30" "9" "139909497" "139909497" "subst" "0.000399434" "01943" "ABCA2_000011" "g.139909497G>A" "" "" "" "ABCA2(NM_001606.5):c.3750C>T (p.S1250=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137015045G>A" "" "likely benign" "" "0000537517" "0" "30" "9" "139910227" "139910227" "subst" "6.66867E-5" "01943" "ABCA2_000012" "g.139910227G>A" "" "" "" "ABCA2(NM_001606.5):c.3414C>T (p.F1138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137015775G>A" "" "likely benign" "" "0000537519" "0" "30" "9" "139925221" "139925221" "subst" "0.00393044" "01804" "ABCA2_000014" "g.139925221A>G" "" "" "" "FUT7(NM_004479.3):c.970T>C (p.(Tyr324His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137030769A>G" "" "likely benign" "" "0000537520" "0" "30" "9" "139925599" "139925599" "subst" "3.3071E-5" "01804" "ABCA2_000015" "g.139925599G>A" "" "" "" "FUT7(NM_004479.3):c.592C>T (p.(Arg198Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137031147G>A" "" "likely benign" "" "0000656309" "0" "50" "9" "139902968" "139902968" "subst" "9.17033E-5" "01943" "ABCA2_000017" "g.139902968C>T" "" "" "" "ABCA2(NM_212533.2):c.7265G>A (p.R2422Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137008516C>T" "" "VUS" "" "0000656310" "0" "50" "9" "139905167" "139905167" "subst" "0" "01943" "ABCA2_000018" "g.139905167G>C" "" "" "" "ABCA2(NM_212533.2):c.6169C>G (p.P2057A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137010715G>C" "" "VUS" "" "0000656311" "0" "30" "9" "139906981" "139906981" "subst" "0" "01943" "ABCA2_000019" "g.139906981C>A" "" "" "" "ABCA2(NM_212533.2):c.5233G>T (p.A1745S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137012529C>A" "" "likely benign" "" "0000666176" "3" "70" "9" "139916371" "139916371" "dup" "0" "00006" "ABCA2_000002" "g.139916371dup" "" "{PMID:Maddirevula 2019:30237576}" "" "c.740dupT" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.137021919dup" "" "likely pathogenic (recessive)" "ACMG" "0000666177" "3" "70" "9" "139915474" "139915474" "subst" "0" "00006" "ABCA2_000001" "g.139915474G>A" "" "{PMID:Maddirevula 2019:30237576}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.137021022G>A" "" "likely pathogenic (recessive)" "ACMG" "0000678620" "0" "50" "9" "139905528" "139905528" "subst" "1.63257E-5" "01943" "C9orf139_000001" "g.139905528C>T" "" "" "" "ABCA2(NM_212533.2):c.6043G>A (p.E2015K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722421" "0" "30" "9" "139911023" "139911023" "subst" "0.000502823" "01943" "C9orf139_000002" "g.139911023C>T" "" "" "" "ABCA2(NM_212533.2):c.3013+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722422" "0" "30" "9" "139915340" "139915340" "subst" "0.00260438" "01943" "C9orf139_000003" "g.139915340G>A" "" "" "" "ABCA2(NM_212533.2):c.1161C>T (p.P387=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804008" "0" "30" "9" "139905753" "139905753" "subst" "0.000212571" "01943" "C9orf139_000004" "g.139905753C>T" "" "" "" "ABCA2(NM_212533.2):c.5898G>A (p.K1966=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804009" "0" "50" "9" "139907921" "139907921" "subst" "0.000829749" "01943" "C9orf139_000005" "g.139907921G>A" "" "" "" "ABCA2(NM_212533.2):c.4632C>T (p.R1544=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804010" "0" "30" "9" "139908280" "139908280" "subst" "0.000878996" "01943" "C9orf139_000006" "g.139908280C>T" "" "" "" "ABCA2(NM_212533.2):c.4537+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804011" "0" "30" "9" "139910167" "139910167" "subst" "0.000313594" "01943" "C9orf139_000007" "g.139910167C>T" "" "" "" "ABCA2(NM_212533.2):c.3564G>A (p.A1188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000817821" "3" "90" "9" "139907916" "139907926" "delins" "0" "00006" "ABCA2_000020" "g.139907916_139907926delinsC" "" "{PMID:Hu 2019:29302074}" "" "NM_001606:c.4537_4547delinsG" "novel candidate disease gene" "Germline" "" "" "0" "" "" "g.137013464_137013474delinsC" "" "likely pathogenic (recessive)" "" "0000852196" "0" "50" "9" "139917424" "139917424" "subst" "0" "01943" "C9orf139_000011" "g.139917424C>G" "" "" "" "ABCA2(NM_212533.2):c.334G>C (p.E112Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861578" "0" "30" "9" "139904302" "139904302" "subst" "2.86779E-5" "01943" "C9orf139_000008" "g.139904302C>T" "" "" "" "ABCA2(NM_212533.2):c.6639G>A (p.P2213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861579" "0" "30" "9" "139906016" "139906016" "subst" "0.00214938" "01943" "C9orf139_000009" "g.139906016G>A" "" "" "" "ABCA2(NM_212533.2):c.5742-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861580" "0" "50" "9" "139916819" "139916819" "subst" "5.50218E-5" "01943" "C9orf139_000010" "g.139916819C>T" "" "" "" "ABCA2(NM_212533.2):c.641G>A (p.R214H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888753" "0" "50" "9" "139910196" "139910196" "subst" "0" "01804" "C9orf139_000012" "g.139910196C>T" "" "" "" "ABCA2(NM_001606.4):c.3445G>A (p.(Glu1179Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965317" "0" "50" "9" "139903008" "139903008" "subst" "4.30159E-5" "02325" "C9orf139_000013" "g.139903008C>T" "" "" "" "ABCA2(NM_212533.3):c.7225G>A (p.A2409T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965318" "0" "50" "9" "139906990" "139906990" "subst" "0.00324071" "02325" "ABCA2_000001" "g.139906990C>T" "" "" "" "ABCA2(NM_001606.4):c.5134G>A (p.(Gly1712Ser)), ABCA2(NM_001606.5):c.5134G>A (p.G1712S), ABCA2(NM_212533.3):c.5224G>A (p.G1742S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978580" "0" "50" "9" "139902962" "139902962" "subst" "0.000548218" "01804" "C9orf139_000014" "g.139902962C>T" "" "" "" "ABCA2(NM_001606.5):c.7181G>A (p.(Arg2394Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978581" "0" "50" "9" "139908448" "139908448" "subst" "0.000136001" "01804" "C9orf139_000015" "g.139908448C>T" "" "" "" "ABCA2(NM_001606.5):c.4283G>A (p.(Arg1428His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978582" "0" "30" "9" "139910011" "139910011" "subst" "0.00354555" "01804" "C9orf139_000016" "g.139910011C>T" "" "" "" "ABCA2(NM_001606.5):c.3552G>A (p.(Glu1184=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978583" "0" "50" "9" "139912047" "139912047" "subst" "9.37513E-5" "01804" "C9orf139_000017" "g.139912047G>A" "" "" "" "ABCA2(NM_001606.5):c.2309C>T (p.(Ala770Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978584" "0" "30" "9" "139915224" "139915224" "subst" "0" "01804" "C9orf139_000018" "g.139915224G>A" "" "" "" "ABCA2(NM_001606.5):c.1187C>T (p.(Pro396Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997716" "0" "30" "9" "139909472" "139909472" "subst" "0.000137254" "01804" "C9orf139_000019" "g.139909472G>A" "" "" "" "ABCA2(NM_001606.4):c.3775C>T (p.(Arg1259Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037363" "0" "50" "9" "139902950" "139902950" "subst" "0" "01804" "C9orf139_000020" "g.139902950G>A" "" "" "" "ABCA2(NM_001606.5):c.7193C>T (p.(Thr2398Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037364" "0" "50" "9" "139910460" "139910460" "subst" "0.000106038" "01804" "C9orf139_000021" "g.139910460G>A" "" "" "" "ABCA2(NM_001606.5):c.3271C>T (p.(Arg1091Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 ABCA2 ## Count = 43 "{{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}}" "0000261577" "00025509" "30" "1410" "0" "1410" "0" "c.1410G>A" "r.(?)" "p.(Thr470=)" "" "0000261578" "00025509" "50" "5224" "0" "5224" "0" "c.5224G>A" "r.(?)" "p.(Gly1742Ser)" "" "0000261579" "00025509" "30" "792" "0" "792" "0" "c.792C>T" "r.(?)" "p.(Leu264=)" "" "0000332930" "00025509" "50" "5224" "0" "5224" "0" "c.5224G>A" "r.(?)" "p.(Gly1742Ser)" "" "0000332931" "00025509" "50" "1645" "-8" "1645" "-8" "c.1645-8A>G" "r.(=)" "p.(=)" "" "0000332932" "00025509" "50" "768" "6" "768" "6" "c.768+6G>A" "r.(=)" "p.(=)" "" "0000537511" "00025509" "30" "7011" "0" "7011" "0" "c.7011C>G" "r.(?)" "p.(Ala2337=)" "" "0000537512" "00025509" "30" "6080" "0" "6080" "0" "c.6080C>T" "r.(?)" "p.(Ala2027Val)" "" "0000537513" "00025509" "50" "5956" "0" "5956" "0" "c.5956C>T" "r.(?)" "p.(His1986Tyr)" "" "0000537514" "00025509" "30" "4719" "0" "4719" "0" "c.4719C>T" "r.(?)" "p.(Cys1573=)" "" "0000537515" "00025509" "30" "4584" "0" "4584" "0" "c.4584C>T" "r.(?)" "p.(Tyr1528=)" "" "0000537516" "00025509" "30" "3840" "0" "3840" "0" "c.3840C>T" "r.(?)" "p.(Ser1280=)" "" "0000537517" "00025509" "30" "3504" "0" "3504" "0" "c.3504C>T" "r.(?)" "p.(Phe1168=)" "" "0000537519" "00025509" "30" "-1897" "0" "-1897" "0" "c.-1897T>C" "r.(?)" "p.(=)" "" "0000537520" "00025509" "30" "-2275" "0" "-2275" "0" "c.-2275C>T" "r.(?)" "p.(=)" "" "0000656309" "00025509" "50" "7265" "0" "7265" "0" "c.7265G>A" "r.(?)" "p.(Arg2422Gln)" "" "0000656310" "00025509" "50" "6169" "0" "6169" "0" "c.6169C>G" "r.(?)" "p.(Pro2057Ala)" "" "0000656311" "00025509" "30" "5233" "0" "5233" "0" "c.5233G>T" "r.(?)" "p.(Ala1745Ser)" "" "0000666176" "00025509" "70" "740" "0" "740" "0" "c.740dup" "r.(?)" "p.(Gly248Argfs*38)" "" "0000666177" "00025509" "70" "1027" "0" "1027" "0" "c.1027C>T" "r.(?)" "p.(Gln343*)" "" "0000678620" "00025509" "50" "6043" "0" "6043" "0" "c.6043G>A" "r.(?)" "p.(Glu2015Lys)" "" "0000722421" "00025509" "30" "3013" "3" "3013" "3" "c.3013+3G>A" "r.spl?" "p.?" "" "0000722422" "00025509" "30" "1161" "0" "1161" "0" "c.1161C>T" "r.(?)" "p.(Pro387=)" "" "0000804008" "00025509" "30" "5898" "0" "5898" "0" "c.5898G>A" "r.(?)" "p.(Lys1966=)" "" "0000804009" "00025509" "50" "4632" "0" "4632" "0" "c.4632C>T" "r.(?)" "p.(Arg1544=)" "" "0000804010" "00025509" "30" "4537" "4" "4537" "4" "c.4537+4G>A" "r.spl?" "p.?" "" "0000804011" "00025509" "30" "3564" "0" "3564" "0" "c.3564G>A" "r.(?)" "p.(Ala1188=)" "" "0000817821" "00025509" "90" "4627" "0" "4637" "0" "c.4627_4637delinsG" "r.(?)" "p.(Arg1543AlafsTer15)" "" "0000852196" "00025509" "50" "334" "0" "334" "0" "c.334G>C" "r.(?)" "p.(Glu112Gln)" "" "0000861578" "00025509" "30" "6639" "0" "6639" "0" "c.6639G>A" "r.(?)" "p.(Pro2213=)" "" "0000861579" "00025509" "30" "5742" "-10" "5742" "-10" "c.5742-10C>T" "r.(=)" "p.(=)" "" "0000861580" "00025509" "50" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Arg214His)" "" "0000888753" "00025509" "50" "3535" "0" "3535" "0" "c.3535G>A" "r.(?)" "p.(Glu1179Lys)" "" "0000965317" "00025509" "50" "7225" "0" "7225" "0" "c.7225G>A" "r.(?)" "p.(Ala2409Thr)" "" "0000965318" "00025509" "50" "5224" "0" "5224" "0" "c.5224G>A" "r.(?)" "p.(Gly1742Ser)" "" "0000978580" "00025509" "50" "7271" "0" "7271" "0" "c.7271G>A" "r.(?)" "p.(Arg2424Gln)" "" "0000978581" "00025509" "50" "4373" "0" "4373" "0" "c.4373G>A" "r.(?)" "p.(Arg1458His)" "" "0000978582" "00025509" "30" "3642" "0" "3642" "0" "c.3642G>A" "r.(?)" "p.(=)" "" "0000978583" "00025509" "50" "2399" "0" "2399" "0" "c.2399C>T" "r.(?)" "p.(Ala800Val)" "" "0000978584" "00025509" "30" "1277" "0" "1277" "0" "c.1277C>T" "r.(?)" "p.(Pro426Leu)" "" "0000997716" "00025509" "30" "3865" "0" "3865" "0" "c.3865C>T" "r.(?)" "p.(Arg1289Cys)" "" "0001037363" "00025509" "50" "7283" "0" "7283" "0" "c.7283C>T" "r.(?)" "p.(Thr2428Met)" "" "0001037364" "00025509" "50" "3361" "0" "3361" "0" "c.3361C>T" "r.(?)" "p.(Arg1121Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000302819" "0000666176" "0000302820" "0000666177" "0000389028" "0000817821"