### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ABCB7) # 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}}" "ABCB7" "ATP-binding cassette, sub-family B (MDR/TAP), member 7" "X" "q13.3" "unknown" "NG_007980.1" "UD_132118362168" "" "http://www.LOVD.nl/ABCB7" "" "1" "48" "22" "300135" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ABCB7_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2008-01-30 00:00:00" "00006" "2015-10-23 14:01:22" "00006" "2025-11-13 13:04:16" ## 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}}" "00025581" "ABCB7" "transcript variant 1" "005" "NM_004299.4" "" "NP_004290.2" "" "" "" "-68" "2460" "2262" "74376175" "74273007" "00006" "2020-11-17 16:20:53" "" "" ## 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" "" "" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02212" "ASAT" "anemia sideroblastic, and spinocerebellar ataxia (ASAT)" "XLR" "301310" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ABCB7" "02212" ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00052363" "" "" "" "1" "" "00006" "{PMID:Tarpey 2009:19377476}" "" "?" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "European" "" "00052364" "" "" "" "4" "" "00006" "{PMID:Pagan 1985:4045952}, {PMID:Allikmets 1999:10196363}" "3-generation family, 4 affected males 9 carrier females" "M" "" "United States" "" "0" "" "" "European American" "" "00052365" "" "" "" "1" "" "00006" "{PMID:Allikmets 1999:10196363}" "" "M" "" "United States" "" "0" "" "" "European American" "" "00052366" "" "" "" "4" "" "00006" "{PMID:Maguire 2001:11843825}" "4 affected males" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe, North" "" "00052367" "" "" "" "1" "" "00006" "{PMID:Maguire 2001:11843825}" "" "-" "" "" "" "0" "" "" "?" "" "00052368" "" "" "" "2" "" "00006" "{PMID:Bekri 2000:11050011}" "family, 2 affected males" "M" "" "" "" "0" "" "" "white" "" "00052369" "" "" "" "1" "" "00006" "{PMID:Bekri 2000:11050011}" "" "-" "" "" "" "0" "" "" "white" "" "00052370" "" "" "" "1" "" "00006" "{PMID:Tarpey 2009:19377476}" "" "?" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "European" "" "00295094" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305318" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00334967" "" "" "" "1" "" "00000" "{PMID:Jin 2017:28373534}" "" "" "" "China" "" "0" "" "" "" "H42" "00436496" "" "" "" "1" "" "00006" "{PMID:Bugiardin1 2019:31039582}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "no" "" "" "0" "" "" "" "patient" "00453420" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00468576" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00468577" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 17 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00052363" "00187" "00052364" "02212" "00052365" "00000" "00052366" "02212" "00052367" "00000" "00052368" "02212" "00052369" "00000" "00052370" "00187" "00295094" "00198" "00305318" "00198" "00334967" "00198" "00436496" "00198" "00453420" "05356" "00468576" "00198" "00468577" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00187, 00198, 01157, 02212, 05356 ## Count = 15 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}" "0000038937" "00187" "00052363" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038938" "02212" "00052364" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038939" "00000" "00052365" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038940" "02212" "00052366" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038941" "00000" "00052367" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038942" "02212" "00052368" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038943" "00000" "00052369" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038944" "00187" "00052370" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000252714" "00198" "00334967" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "high myopia, early-onset" "" "0000326674" "00198" "00436496" "00006" "Familial, autosomal recessive" "25y" "see paper; ..., dyskinetic cerebral palsy, partial agenesis of the corpus callosum, signs of mitochondrial myopathy" "" "" "" "" "" "" "" "" "" "COXPD50" "encephalomyopathy" "" "0000342083" "05356" "00453420" "03544" "Isolated (sporadic)" "" "HP:0001251, HP:0011463" "" "" "" "" "" "" "" "" "" "SCAX6" "ataxia" "" "0000353729" "00198" "00468576" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the musculature" "" "0000353730" "00198" "00468577" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the musculature" "" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000052311" "00052363" "1" "00006" "00006" "2009-02-01 12:53:15" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000052312" "00052364" "1" "00006" "00006" "2009-02-01 12:53:15" "" "" "SSCA;SEQ" "DNA" "" "" "0000052313" "00052365" "1" "00006" "00006" "2009-02-01 12:53:15" "" "" "SSCA;SEQ" "DNA" "" "" "0000052314" "00052366" "1" "00006" "00006" "2009-02-01 12:53:15" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052315" "00052367" "1" "00006" "00006" "2009-02-01 12:53:15" "" "" "SEQ" "DNA" "" "" "0000052316" "00052368" "1" "00006" "00006" "2009-02-01 12:53:15" "" "" "PCR;SEQ" "DNA" "" "" "0000052317" "00052369" "1" "00006" "00006" "2009-02-01 12:53:15" "" "" "PCR;SEQ" "DNA" "" "" "0000052318" "00052370" "1" "00006" "00006" "2009-02-01 12:53:15" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000296262" "00295094" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306447" "00305318" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000336198" "00334967" "1" "00000" "00006" "2021-03-02 16:14:24" "" "" "SEQ-NG" "DNA" "" "WES" "0000437980" "00436496" "1" "00006" "00006" "2023-09-18 22:23:52" "" "" "SEQ-NG" "DNA" "" "trio WES" "0000455031" "00453420" "1" "03544" "03544" "2024-08-25 13:03:46" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000470244" "00468576" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470245" "00468577" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000052311" "ABCB7" "0000052312" "ABCB7" "0000052313" "ABCB7" "0000052314" "ABCB7" "0000052315" "ABCB7" "0000052316" "ABCB7" "0000052317" "ABCB7" "0000052318" "ABCB7" "0000336198" "ABCB7" "0000336198" "EPHB2" ## 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 = 57 "{{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}}" "0000002025" "20" "30" "X" "74332595" "74332595" "dup" "0" "00037" "ABCB7_000006" "g.74332595dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.75112760dup" "" "likely benign" "" "0000003059" "20" "30" "X" "74332595" "74332595" "dup" "0" "00037" "ABCB7_000007" "g.74332595dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.75112760dup" "" "likely benign" "" "0000007184" "20" "30" "X" "74375871" "74375871" "subst" "0" "00037" "ABCB7_000008" "g.74375871G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.75156036G>C" "" "likely benign" "" "0000009277" "0" "30" "X" "74332595" "74332595" "dup" "0" "00037" "ABCB7_000006" "g.74332595dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.75112760dup" "" "likely benign" "" "0000009278" "0" "30" "X" "74332594" "74332595" "dup" "0" "00037" "ABCB7_000009" "g.74332594_74332595dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.75112759_75112760dup" "" "likely benign" "" "0000009279" "20" "30" "X" "74375871" "74375871" "subst" "0" "00037" "ABCB7_000008" "g.74375871G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.75156036G>C" "" "likely benign" "" "0000011041" "20" "30" "X" "74332595" "74332595" "dup" "0" "00037" "ABCB7_000007" "g.74332595dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.75112760dup" "" "likely benign" "" "0000081752" "1" "50" "X" "74293709" "74293709" "subst" "0.00233103" "00006" "ABCB7_000004" "g.74293709C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.75073874C>T" "" "VUS" "" "0000081753" "21" "90" "X" "74291351" "74291351" "subst" "0" "00006" "ABCB7_000001" "g.74291351A>C" "" "{PMID:Allikmets 1999:10196363}, {OMIM300135:0001}" "" "1200T>G, I400M" "" "Germline" "yes" "" "0" "" "" "g.75071516A>C" "" "pathogenic" "" "0000081754" "0" "90" "X" "74291351" "74291351" "subst" "0" "00006" "ABCB7_000001" "g.74291351A>C" "" "{PMID:Allikmets 1999:10196363}, {OMIM300135:0001}" "" "1200T>G, I400M" "not in 600 controls" "Germline" "yes" "" "0" "" "" "g.75071516A>C" "" "pathogenic" "" "0000081755" "21" "90" "X" "74290334" "74290334" "subst" "0" "00006" "ABCB7_000003" "g.74290334C>G" "" "{PMID:Maguire 2001:11843825}, {OMIM300135:0003}" "MaeI-" "1299G>C, V411L" "" "Germline" "yes" "" "0" "" "" "g.75070499C>G" "" "pathogenic" "" "0000081756" "0" "90" "X" "74290334" "74290334" "subst" "0" "00006" "ABCB7_000003" "g.74290334C>G" "" "{PMID:Maguire 2001:11843825}, {OMIM300135:0003}" "MaeI-" "1299G>C, V411L" "not in 200 controls" "Germline" "yes" "" "0" "" "" "g.75070499C>G" "" "pathogenic" "" "0000081757" "21" "90" "X" "74290268" "74290268" "subst" "0" "00006" "ABCB7_000002" "g.74290268C>T" "" "{PMID:Bekri 2000:11050011}, {OMIM300135:0002}" "BsmAI-" "G1305A, E433K" "" "Germline" "yes" "" "0" "" "" "g.75070433C>T" "" "pathogenic" "" "0000081758" "0" "90" "X" "74290268" "74290268" "subst" "0" "00006" "ABCB7_000002" "g.74290268C>T" "" "{PMID:Bekri 2000:11050011}, {OMIM300135:0002}" "BsmAI-" "G1305A, E433K" "not in 120 controls" "Germline" "yes" "" "0" "" "" "g.75070433C>T" "" "pathogenic" "" "0000081759" "0" "50" "X" "74290245" "74290245" "subst" "0.0119574" "00006" "ABCB7_000005" "g.74290245A>G" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "D441D" "found once, nonrecurrent change" "Germline" "" "rs45598734" "0" "" "" "g.75070410A>G" "" "VUS" "" "0000081767" "0" "90" "X" "74291351" "74291351" "subst" "0" "00006" "ABCB7_000001" "g.74291351A>C" "" "{PMID:Allikmets 1999:10196363}, {OMIM300135:0001}" "" "1200T>G, I400M" "cloned in yeast ATM1 (V365M), partial loss of function (reduced growth rate iron limiting conditions)" "In vitro (cloned)" "" "" "1" "" "" "g.75071516A>C" "" "NA" "" "0000081768" "0" "70" "X" "74290268" "74290268" "subst" "0" "00006" "ABCB7_000002" "g.74290268C>T" "" "{PMID:Bekri 2000:11050011}, {OMIM300135:0002}" "" "G1305A, E433K" "cloned in yeast ATM1 (Atm1p D398K), reduced cytosolic Fe/S protein maturation" "In vitro (cloned)" "" "" "1" "" "" "g.75070433C>T" "" "NA" "" "0000255343" "0" "30" "X" "74282154" "74282154" "subst" "5.69827E-6" "01943" "ABCB7_000010" "g.74282154A>G" "" "" "" "ABCB7(NM_004299.6):c.1938+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75062319A>G" "" "likely benign" "" "0000261651" "0" "30" "X" "74291377" "74291377" "subst" "0.000454306" "01943" "ABCB7_000012" "g.74291377T>C" "" "" "" "ABCB7(NM_001271696.1):c.1174A>G (p.(Ile392Val)), ABCB7(NM_004299.6):c.1177A>G (p.I393V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75071542T>C" "" "likely benign" "" "0000261652" "0" "30" "X" "74376035" "74376035" "subst" "1.26066E-5" "01943" "ABCB7_000013" "g.74376035C>G" "" "" "" "ABCB7(NM_004299.6):c.73G>C (p.A25P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75156200C>G" "" "likely benign" "" "0000334681" "0" "50" "X" "74288912" "74288912" "subst" "0.00100218" "01804" "ABCB7_000011" "g.74288912T>C" "" "" "" "ABCB7(NM_001271696.1):c.1589A>G (p.(Tyr530Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75069077T>C" "" "VUS" "" "0000334682" "0" "50" "X" "74291377" "74291377" "subst" "0.000454306" "01804" "ABCB7_000012" "g.74291377T>C" "" "" "" "ABCB7(NM_001271696.1):c.1174A>G (p.(Ile392Val)), ABCB7(NM_004299.6):c.1177A>G (p.I393V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75071542T>C" "" "VUS" "" "0000577453" "0" "50" "X" "74273239" "74273239" "subst" "1.6792E-5" "01943" "ABCB7_000014" "g.74273239T>C" "" "" "" "ABCB7(NM_004299.6):c.2228A>G (p.N743S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75053404T>C" "" "VUS" "" "0000577454" "0" "30" "X" "74284997" "74284997" "subst" "0.0226188" "01804" "ABCB7_000015" "g.74284997G>A" "" "" "" "ABCB7(NM_001271696.1):c.1739C>T (p.(Ala580Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75065162G>A" "" "likely benign" "" "0000577456" "0" "30" "X" "74289272" "74289272" "subst" "0" "01943" "ABCB7_000017" "g.74289272A>G" "" "" "" "ABCB7(NM_004299.6):c.1386T>C (p.S462=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75069437A>G" "" "likely benign" "" "0000577457" "0" "30" "X" "74293618" "74293618" "subst" "0.0088987" "01804" "ABCB7_000018" "g.74293618G>A" "" "" "" "ABCB7(NM_001271696.1):c.945-7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75073783G>A" "" "likely benign" "" "0000577458" "0" "30" "X" "74293709" "74293709" "subst" "0.00233103" "01943" "ABCB7_000004" "g.74293709C>T" "" "" "" "ABCB7(NM_001271696.1):c.938G>A (p.(Arg313Gln)), ABCB7(NM_004299.6):c.941G>A (p.R314Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75073874C>T" "" "likely benign" "" "0000577459" "0" "30" "X" "74293709" "74293709" "subst" "0.00233103" "01804" "ABCB7_000004" "g.74293709C>T" "" "" "" "ABCB7(NM_001271696.1):c.938G>A (p.(Arg313Gln)), ABCB7(NM_004299.6):c.941G>A (p.R314Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75073874C>T" "" "likely benign" "" "0000577461" "0" "30" "X" "74334624" "74334624" "subst" "0.000185308" "01804" "ABCB7_000020" "g.74334624T>C" "" "" "" "ABCB7(NM_001271696.1):c.211A>G (p.(Lys71Glu)), ABCB7(NM_004299.6):c.214A>G (p.K72E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75114789T>C" "" "likely benign" "" "0000577462" "0" "30" "X" "74334634" "74334634" "subst" "0.00108435" "01943" "ABCB7_000021" "g.74334634C>G" "" "" "" "ABCB7(NM_001271696.3):c.201G>C (p.(Gln67His)), ABCB7(NM_004299.6):c.204G>C (p.Q68H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75114799C>G" "" "likely benign" "" "0000577463" "0" "30" "X" "74334634" "74334634" "subst" "0.00108435" "01804" "ABCB7_000021" "g.74334634C>G" "" "" "" "ABCB7(NM_001271696.3):c.201G>C (p.(Gln67His)), ABCB7(NM_004299.6):c.204G>C (p.Q68H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75114799C>G" "" "likely benign" "" "0000577464" "0" "30" "X" "74375957" "74375957" "subst" "0" "01804" "ABCB7_000022" "g.74375957T>C" "" "" "" "ABCB7(NM_001271696.1):c.151A>G (p.(Thr51Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75156122T>C" "" "likely benign" "" "0000577465" "0" "30" "X" "74375987" "74375987" "subst" "0.000455508" "01804" "ABCB7_000023" "g.74375987A>G" "" "" "" "ABCB7(NM_001271696.3):c.121T>C (p.(Trp41Arg)), ABCB7(NM_004299.6):c.121T>C (p.W41R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75156152A>G" "" "likely benign" "" "0000619888" "0" "30" "X" "74290245" "74290245" "subst" "0.0119574" "01804" "ABCB7_000005" "g.74290245A>G" "" "" "" "ABCB7(NM_001271696.1):c.1320T>C (p.(Asp440=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75070410A>G" "" "likely benign" "" "0000652951" "1" "30" "X" "74334588" "74334588" "subst" "0.0105549" "03575" "ABCB7_000024" "g.74334588C>T" "9/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous; {DB:CLININrs61323727}" "Germline" "" "rs61323727" "0" "" "" "g.75114753C>T" "" "likely benign" "" "0000670135" "0" "30" "X" "74334588" "74334588" "subst" "0.0105549" "03575" "ABCB7_000024" "g.74334588C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs61323727}" "Germline" "" "rs61323727" "0" "" "" "g.75114753C>T" "" "likely benign" "" "0000682639" "0" "30" "X" "74375987" "74375987" "subst" "0.000455508" "01943" "ABCB7_000023" "g.74375987A>G" "" "" "" "ABCB7(NM_001271696.3):c.121T>C (p.(Trp41Arg)), ABCB7(NM_004299.6):c.121T>C (p.W41R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693740" "0" "50" "X" "74284972" "74284972" "subst" "5.61413E-6" "01943" "ABCB7_000025" "g.74284972A>C" "" "" "" "ABCB7(NM_004299.6):c.1767T>G (p.H589Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693741" "0" "10" "X" "74332742" "74332742" "subst" "0.0104654" "01804" "ABCB7_000026" "g.74332742G>A" "" "" "" "ABCB7(NM_001271696.1):c.312C>T (p.(Leu104=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000693742" "0" "30" "X" "74334624" "74334624" "subst" "0.000185308" "01943" "ABCB7_000020" "g.74334624T>C" "" "" "" "ABCB7(NM_001271696.1):c.211A>G (p.(Lys71Glu)), ABCB7(NM_004299.6):c.214A>G (p.K72E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729191" "0" "30" "X" "74282155" "74282155" "subst" "0.000119443" "01943" "ABCB7_000027" "g.74282155T>C" "" "" "" "ABCB7(NM_004299.6):c.1938+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729192" "0" "30" "X" "74334588" "74334588" "subst" "0.0105549" "01804" "ABCB7_000024" "g.74334588C>T" "" "" "" "ABCB7(NM_001271696.1):c.246+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000735361" "21" "70" "X" "74289241" "74289241" "subst" "0" "00000" "ABCB7_000028" "g.74289241C>T" "" "{PMID:Jin 2017:28373534}" "" "NM_001271697:1294G>A" "" "Germline" "" "" "0" "" "" "g.75069406C>T" "" "likely pathogenic" "" "0000856790" "0" "30" "X" "74273428" "74273428" "del" "0" "01943" "ABCB7_000029" "g.74273428del" "" "" "" "ABCB7(NM_004299.6):c.2047-8delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867562" "0" "50" "X" "74289163" "74289163" "subst" "0.000493185" "01943" "ABCB7_000016" "g.74289163C>T" "" "" "" "ABCB7(NM_001271696.2):c.1492G>A (p.G498R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867563" "0" "50" "X" "74291428" "74291428" "subst" "0" "02327" "ABCB7_000030" "g.74291428C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867564" "0" "50" "X" "74318905" "74318905" "del" "0" "01943" "ABCB7_000031" "g.74318905del" "" "" "" "ABCB7(NM_004299.6):c.337-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000896366" "0" "30" "X" "74284940" "74284940" "subst" "5.05487E-5" "02326" "ABCB7_000032" "g.74284940T>A" "" "" "" "ABCB7(NM_004299.6):c.1799A>T (p.D600V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915765" "0" "30" "X" "74334588" "74334588" "subst" "0.0105549" "02327" "ABCB7_000024" "g.74334588C>T" "" "" "" "ABCB7(NM_001271696.1):c.246+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931466" "0" "30" "X" "74295314" "74295314" "subst" "1.68055E-5" "02325" "ABCB7_000033" "g.74295314C>T" "" "" "" "ABCB7(NM_004299.6):c.741G>A (p.T247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000933478" "21" "10" "X" "74288912" "74288912" "subst" "0.00100218" "00006" "ABCB7_000011" "g.74288912T>C" "" "{PMID:Bugiardin1 2019:31039582}" "" "ABCB7 c.1472A>G (Y491C)" "" "Germline" "" "" "0" "" "" "g.75069077T>C" "" "benign" "" "0000984860" "0" "30" "X" "74272320" "74272320" "del" "0" "01804" "ABCB7_000034" "g.74272320del" "" "" "" "ABCB7(NM_001271696.3):c.*903del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990006" "21" "70" "X" "74290297" "74290297" "subst" "0" "03544" "ABCB7_000035" "g.74290297G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.75070462G>T" "" "likely pathogenic" "ACMG" "0001044509" "0" "50" "X" "74334589" "74334589" "subst" "0" "01804" "ABCB7_000036" "g.74334589C>T" "" "" "" "ABCB7(NM_001271696.3):c.246G>A (p.(Lys82=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057365" "0" "50" "X" "74332808" "74332808" "subst" "0" "01804" "ABCB7_000037" "g.74332808C>G" "" "" "" "ABCB7(NM_001271696.3):c.247-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001058366" "0" "70" "X" "74296379" "74296379" "subst" "0" "00006" "ABCB7_000039" "g.74296379C>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.75076544C>T" "" "likely pathogenic" "" "0001058367" "0" "70" "X" "74296362" "74296362" "subst" "0" "00006" "ABCB7_000038" "g.74296362A>C" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.75076527A>C" "" "likely pathogenic" "" ## 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 ABCB7 ## Count = 57 "{{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}}" "0000002025" "00025581" "30" "336" "126" "336" "126" "c.336+126dup" "r.(=)" "p.(=)" "" "0000003059" "00025581" "30" "336" "126" "336" "126" "c.336+126dup" "r.(=)" "p.(=)" "" "0000007184" "00025581" "30" "168" "69" "168" "69" "c.168+69C>G" "r.(=)" "p.(=)" "" "0000009277" "00025581" "30" "336" "126" "336" "126" "c.336+126dup" "r.(=)" "p.(=)" "" "0000009278" "00025581" "30" "336" "126" "336" "127" "c.336+126_336+127dup" "r.(=)" "p.(=)" "" "0000009279" "00025581" "30" "168" "69" "168" "69" "c.168+69C>G" "r.(=)" "p.(=)" "" "0000011041" "00025581" "30" "336" "126" "336" "126" "c.336+126dup" "r.(=)" "p.(=)" "" "0000081752" "00025581" "50" "941" "0" "941" "0" "c.941G>A" "r.(?)" "p.(Arg314Gln)" "7" "0000081753" "00025581" "90" "1203" "0" "1203" "0" "c.1203T>G" "r.(?)" "p.(Ile401Met)" "9" "0000081754" "00025581" "90" "1203" "0" "1203" "0" "c.1203T>G" "r.(?)" "p.(Ile401Met)" "9" "0000081755" "00025581" "90" "1234" "0" "1234" "0" "c.1234G>C" "r.1234g>c" "p.Val412Leu" "10" "0000081756" "00025581" "90" "1234" "0" "1234" "0" "c.1234G>C" "r.(?)" "p.(Val412Leu)" "10" "0000081757" "00025581" "90" "1300" "0" "1300" "0" "c.1300G>A" "r.(?)" "p.(Glu434Lys)" "10" "0000081758" "00025581" "90" "1300" "0" "1300" "0" "c.1300G>A" "r.(?)" "p.(Glu434Lys)" "10" "0000081759" "00025581" "50" "1323" "0" "1323" "0" "c.1323T>C" "r.(?)" "p.(Asp441=)" "10" "0000081767" "00025581" "90" "1203" "0" "1203" "0" "c.1203T>G" "r.(?)" "p.Ile401Met" "9" "0000081768" "00025581" "70" "1300" "0" "1300" "0" "c.1300G>A" "r.(?)" "p.Glu434Lys" "10" "0000255343" "00025581" "30" "1938" "9" "1938" "9" "c.1938+9T>C" "r.(=)" "p.(=)" "" "0000261651" "00025581" "30" "1177" "0" "1177" "0" "c.1177A>G" "r.(?)" "p.(Ile393Val)" "" "0000261652" "00025581" "30" "73" "0" "73" "0" "c.73G>C" "r.(?)" "p.(Ala25Pro)" "" "0000334681" "00025581" "50" "1592" "0" "1592" "0" "c.1592A>G" "r.(?)" "p.(Tyr531Cys)" "" "0000334682" "00025581" "50" "1177" "0" "1177" "0" "c.1177A>G" "r.(?)" "p.(Ile393Val)" "" "0000577453" "00025581" "50" "2228" "0" "2228" "0" "c.2228A>G" "r.(?)" "p.(Asn743Ser)" "" "0000577454" "00025581" "30" "1742" "0" "1742" "0" "c.1742C>T" "r.(?)" "p.(Ala581Val)" "" "0000577456" "00025581" "30" "1386" "0" "1386" "0" "c.1386T>C" "r.(?)" "p.(Ser462=)" "" "0000577457" "00025581" "30" "948" "-7" "948" "-7" "c.948-7C>T" "r.(=)" "p.(=)" "" "0000577458" "00025581" "30" "941" "0" "941" "0" "c.941G>A" "r.(?)" "p.(Arg314Gln)" "" "0000577459" "00025581" "30" "941" "0" "941" "0" "c.941G>A" "r.(?)" "p.(Arg314Gln)" "" "0000577461" "00025581" "30" "214" "0" "214" "0" "c.214A>G" "r.(?)" "p.(Lys72Glu)" "" "0000577462" "00025581" "30" "204" "0" "204" "0" "c.204G>C" "r.(?)" "p.(Gln68His)" "" "0000577463" "00025581" "30" "204" "0" "204" "0" "c.204G>C" "r.(?)" "p.(Gln68His)" "" "0000577464" "00025581" "30" "151" "0" "151" "0" "c.151A>G" "r.(?)" "p.(Thr51Ala)" "" "0000577465" "00025581" "30" "121" "0" "121" "0" "c.121T>C" "r.(?)" "p.(Trp41Arg)" "" "0000619888" "00025581" "30" "1323" "0" "1323" "0" "c.1323T>C" "r.(?)" "p.(Asp441=)" "" "0000652951" "00025581" "30" "249" "1" "249" "1" "c.249+1G>A" "r.spl?" "p.?" "" "0000670135" "00025581" "30" "249" "1" "249" "1" "c.249+1G>A" "r.spl?" "p.?" "" "0000682639" "00025581" "30" "121" "0" "121" "0" "c.121T>C" "r.(?)" "p.(Trp41Arg)" "" "0000693740" "00025581" "50" "1767" "0" "1767" "0" "c.1767T>G" "r.(?)" "p.(His589Gln)" "" "0000693741" "00025581" "10" "315" "0" "315" "0" "c.315C>T" "r.(?)" "p.(Leu105=)" "" "0000693742" "00025581" "30" "214" "0" "214" "0" "c.214A>G" "r.(?)" "p.(Lys72Glu)" "" "0000729191" "00025581" "30" "1938" "8" "1938" "8" "c.1938+8A>G" "r.(=)" "p.(=)" "" "0000729192" "00025581" "30" "249" "1" "249" "1" "c.249+1G>A" "r.spl?" "p.?" "" "0000735361" "00025581" "70" "1417" "0" "1417" "0" "c.1417G>A" "r.(?)" "p.(Val473Met)" "" "0000856790" "00025581" "30" "2047" "-8" "2047" "-8" "c.2047-8del" "r.(=)" "p.(=)" "" "0000867562" "00025581" "50" "1495" "0" "1495" "0" "c.1495G>A" "r.(?)" "p.(Gly499Arg)" "" "0000867563" "00025581" "50" "1126" "0" "1126" "0" "c.1126G>A" "r.(?)" "p.(Ala376Thr)" "" "0000867564" "00025581" "50" "337" "-7" "337" "-7" "c.337-7del" "r.(=)" "p.(=)" "" "0000896366" "00025581" "30" "1799" "0" "1799" "0" "c.1799A>T" "r.(?)" "p.(Asp600Val)" "" "0000915765" "00025581" "30" "249" "1" "249" "1" "c.249+1G>A" "r.spl?" "p.?" "" "0000931466" "00025581" "30" "741" "0" "741" "0" "c.741G>A" "r.(?)" "p.(=)" "" "0000933478" "00025581" "10" "1592" "0" "1592" "0" "c.1592A>G" "r.(?)" "p.(Tyr531Cys)" "" "0000984860" "00025581" "30" "3165" "0" "3165" "0" "c.*903del" "r.(?)" "p.(=)" "" "0000990006" "00025581" "70" "1271" "0" "1271" "0" "c.1271C>A" "r.(?)" "p.(Pro424His)" "10" "0001044509" "00025581" "50" "249" "0" "249" "0" "c.249G>A" "r.(?)" "p.(=)" "" "0001057365" "00025581" "50" "250" "-1" "250" "-1" "c.250-1G>C" "r.spl?" "p.?" "" "0001058366" "00025581" "70" "567" "0" "567" "0" "c.567G>A" "r.(?)" "p.(Met189Ile)" "" "0001058367" "00025581" "70" "584" "0" "584" "0" "c.584T>G" "r.(?)" "p.(Ile195Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002025" "0000000209" "0000003059" "0000000209" "0000007184" "0000000210" "0000009277" "0000000210" "0000009278" "0000000210" "0000009279" "0000000210" "0000011041" "0000052311" "0000081752" "0000052312" "0000081753" "0000052313" "0000081754" "0000052314" "0000081755" "0000052315" "0000081756" "0000052316" "0000081757" "0000052317" "0000081758" "0000052318" "0000081759" "0000296262" "0000652951" "0000306447" "0000670135" "0000336198" "0000735361" "0000437980" "0000933478" "0000455031" "0000990006" "0000470244" "0001058366" "0000470245" "0001058367"