### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AMFR) # 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}}" "AMFR" "autocrine motility factor receptor, E3 ubiquitin protein ligase" "16" "q21" "unknown" "NC_000016.9" "UD_136022054211" "" "https://www.LOVD.nl/AMFR" "" "1" "463" "267" "603243" "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/AMFR_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-05-26 14:51:50" "00000" "2025-11-01 13:22:20" ## 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}}" "00002428" "AMFR" "autocrine motility factor receptor, E3 ubiquitin protein ligase" "001" "NM_001144.5" "" "NP_001135.3" "" "" "" "-211" "3389" "1932" "56459450" "56395364" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00325" "SPG" "paraplegia, spastic (SPG)" "" "" "" "" "" "00006" "2014-02-15 22:29:17" "00006" "2016-11-28 13:01:43" "07085" "SPG89" "paraplegia, spastic, type 89, autosomal recessive" "AR" "620379" "" "" "" "00006" "2024-05-26 14:51:09" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "AMFR" "00325" "AMFR" "07085" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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}}" "00450437" "" "" "" "2" "" "00006" "{PMID:Deng 2023:37119330}" "2-generation family, 2 affected brothers, unaffected heterozygous parents/relatives" "M" "yes" "Morocco" "" "0" "" "" "" "Fam1Pat1" "00450438" "" "" "00450437" "1" "" "00006" "{PMID:Deng 2023:37119330}" "brother" "M" "yes" "Morocco" "" "0" "" "" "" "Fam1Pat2" "00450439" "" "" "" "3" "" "00006" "{PMID:Deng 2023:37119330}" "4-generation family, 3 affected sisters, unaffected heterozygous parents/relatives" "F" "yes" "Egypt" "" "0" "" "" "Giza" "Fam2Pat3" "00450440" "" "" "00450439" "1" "" "00006" "{PMID:Deng 2023:37119330}" "sister" "F" "yes" "Egypt" "" "0" "" "" "Giza" "Fam2Pat4" "00450441" "" "" "00450439" "1" "" "00006" "{PMID:Deng 2023:37119330}" "sister" "F" "yes" "Egypt" "" "0" "" "" "" "Fam2Pat5" "00450442" "" "" "" "6" "" "00006" "{PMID:Deng 2023:37119330}" "4-generation family, 6 affected, unaffected heterozygous parents/relatives" "F" "yes" "Jordan" "" "0" "" "" "" "Fam3Pat6" "00450443" "" "" "00450442" "1" "" "00006" "{PMID:Deng 2023:37119330}" "sister" "F" "yes" "Jordan" "" "0" "" "" "" "Fam3Pat7" "00450444" "" "" "00450442" "1" "" "00006" "{PMID:Deng 2023:37119330}" "sister" "F" "yes" "Jordan" "" "0" "" "" "" "Fam3Pat8" "00450445" "" "" "00450442" "1" "" "00006" "{PMID:Deng 2023:37119330}" "nephew" "M" "yes" "Jordan" "" "0" "" "" "" "Fam3Pat9" "00450446" "" "" "00450442" "1" "" "00006" "{PMID:Deng 2023:37119330}" "niece" "F" "yes" "Jordan" "" "0" "" "" "" "Fam3Pat10" "00450447" "" "" "00450442" "1" "" "00006" "{PMID:Deng 2023:37119330}" "niece" "F" "yes" "Jordan" "" "0" "" "" "" "Fam3Pat11" "00450448" "" "" "" "1" "" "00006" "{PMID:Deng 2023:37119330}" "2-generation family, 1 affected, unaffected heterozygous parents/relatives" "F" "yes" "" "" "0" "" "" "" "Fam4Pat12" "00450449" "" "" "" "3" "" "00006" "{PMID:Deng 2023:37119330}" "2-generation family, 3 affected, unaffected heterozygous parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "Jhelum" "Fam5Pat13" "00450450" "" "" "00450449" "1" "" "00006" "{PMID:Deng 2023:37119330}" "brother" "M" "yes" "Pakistan" "" "0" "" "" "Jhelum" "Fam5Pat14" "00450451" "" "" "00450449" "1" "" "00006" "{PMID:Deng 2023:37119330}" "sister" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam5Pat15" "00450452" "" "" "" "1" "" "00006" "{PMID:Deng 2023:37119330}" "2-generation family, 1 affected, unaffected heterozygous parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam6Pat16" "00450453" "" "" "" "2" "" "00006" "{PMID:Deng 2023:37119330}" "5-generation family, 2 affected, unaffected heterozygous parents/relatives" "F" "yes" "Syria" "" "0" "" "" "" "Fam7Pat17" "00450454" "" "" "00450453" "1" "" "00006" "{PMID:Deng 2023:37119330}" "brother" "M" "yes" "Syria" "" "0" "" "" "" "Fam7Pat18" "00450455" "" "" "" "2" "" "00006" "{PMID:Deng 2023:37119330}" "5-generation family, 2 affected, unaffected heterozygous parents/relatives" "M" "yes" "Egypt" "" "0" "" "" "" "Fam8Pat19" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00450437" "00325" "00450438" "00325" "00450439" "00325" "00450440" "00325" "00450441" "00325" "00450442" "00325" "00450443" "00325" "00450444" "00325" "00450445" "00325" "00450446" "00325" "00450447" "00325" "00450448" "00325" "00450449" "00325" "00450450" "00325" "00450451" "00325" "00450452" "00325" "00450453" "00325" "00450454" "00325" "00450455" "00325" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00325, 07085 ## Count = 19 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000339497" "00325" "00450437" "00006" "Familial, autosomal recessive" "17y7m" "see paper; ..., global developmental delay with mild intellectual disability and progressive peripheral spasticity" "" "" "" "" "" "" "" "SPG89" "spastic paraplegia" "0000339498" "00325" "00450438" "00006" "Familial, autosomal recessive" "10y3m" "see paper; ..., global developmental delay with mild intellectual disability, some signs of hypotonia and progressive peripheral spasticity" "" "" "" "" "" "" "" "SPG89" "spastic paraplegia" "0000339499" "00325" "00450439" "00006" "Familial, autosomal recessive" "24y" "see paper; ..., non complicated hereditary spastic paraplegia" "" "" "" "" "" "" "" "SPG89" "spastic paraplegia" "0000339500" "00325" "00450440" "00006" "Familial, autosomal recessive" "20y" "see paper; ..., non complicated hereditary spastic paraplegia" "" "" "" "" "" "" "" "SPG89" "spastic paraplegia" "0000339501" "00325" "00450441" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., non complicated hereditary spastic paraplegia" "" "" "" "" "" "" "" "SPG89" "spastic paraplegia" "0000339502" "00325" "00450442" "00006" "Familial, autosomal recessive" "24y" "see paper; ..., spastic paraplegia leading to permanent and severe movement disability in lower limbs; requiring extensive physiotherapy; learning problems; IQ test intellectual age 4.5y at 5.5y, IQ79" "" "" "" "" "" "" "" "SPG89" "spastic paraplegia" "0000339503" "00325" "00450443" "00006" "Familial, autosomal recessive" "20y" "see paper; ..., spastic cerebral quadriplegia leading to permanent and severe movement disability; instable walk, susceptible to falling; intellectual abilities within normal range, requires school with accommodation of movement disability." "" "" "" "" "" "" "" "SPG89" "spastic paraplegia" "0000339504" "00325" "00450444" "00006" "Familial, autosomal recessive" "17y" "see paper; ..., spastic quadriplegia leading to permanent and severe movement disability; faces extreme difficulty in walking; intellectual abilities fall under the lower levels for slow learners, requires continuous care" "" "" "" "" "" "" "" "SPG89" "spastic paraplegia" "0000339505" "00325" "00450445" "00006" "Familial, autosomal recessive" "" "see paper; ..., non complicated hereditary spastic paraplegia" "" "" "" "" "" "" "" "SPG89" "spastic paraplegia" "0000339506" "00325" "00450446" "00006" "Familial, autosomal recessive" "" "see paper; ..., non complicated hereditary spastic paraplegia" "" "" "" "" "" "" "" "SPG89" "spastic paraplegia" "0000339507" "00325" "00450447" "00006" "Familial, autosomal recessive" "" "see paper; ..., non complicated hereditary spastic paraplegia" "" "" "" "" "" "" "" "SPG89" "spastic paraplegia" "0000339508" "00325" "00450448" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., myopathy, motor delay, unsteady gait, gowers sign" "" "" "" "" "" "" "" "SPG89" "spastic paraplegia" "0000339509" "00325" "00450449" "00006" "Familial, autosomal recessive" "12y4m" "see paper; ..., mild intellectual disability, peripheral spasticity and clonus lower limbs, hereditary spastic paraplegia" "" "" "" "" "" "" "" "SPG89" "spastic paraplegia" "0000339510" "00325" "00450450" "00006" "Familial, autosomal recessive" "10y11m" "see paper; ..., mild intellectual disability, peripheral spasticity and clonus lower limbs, hereditary spastic paraplegia" "" "" "" "" "" "" "" "SPG89" "spastic paraplegia" "0000339511" "00325" "00450451" "00006" "Familial, autosomal recessive" "9y3m" "see paper; ..., peripheral spasticity and clonus of lower limbs, hereditary spastic paraplegia" "" "" "" "" "" "" "" "SPG89" "spastic paraplegia" "0000339512" "00325" "00450452" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., developmental delay, spasticity, ataxia, muscle weakness, learning and speech abnormalities, mild-scoliosis; 22m-speeak, 29m-walk; IQ59, mild intellectual disability last examination, delayed fine motor skills, delayed motor skills, spasticity, sleeping distress." "" "" "" "" "" "" "" "SPG89" "spastic paraplegia" "0000339513" "00325" "00450453" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., developmentall delay, motor delay, abnormal gait, hereditary spasticity" "" "" "" "" "" "" "" "SPG89" "spastic paraplegia" "0000339514" "00325" "00450454" "00006" "Familial, autosomal recessive" "5y" "see paper; ..., developmentall delay, motor delay, abnormal gait, hereditary spasticity" "" "" "" "" "" "" "" "SPG89" "spastic paraplegia" "0000339515" "00325" "00450455" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., non complicated hereditary spastic paraplegia" "" "" "" "" "" "" "" "SPG89" "spastic paraplegia" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000452033" "00450437" "1" "00006" "00006" "2024-05-27 09:25:31" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000452034" "00450438" "1" "00006" "00006" "2024-05-27 09:25:31" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000452035" "00450439" "1" "00006" "00006" "2024-05-27 09:25:31" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000452036" "00450440" "1" "00006" "00006" "2024-05-27 09:25:31" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000452037" "00450441" "1" "00006" "00006" "2024-05-27 09:25:31" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000452038" "00450442" "1" "00006" "00006" "2024-05-27 09:25:31" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000452039" "00450443" "1" "00006" "00006" "2024-05-27 09:25:31" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000452040" "00450444" "1" "00006" "00006" "2024-05-27 09:25:31" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000452041" "00450445" "1" "00006" "00006" "2024-05-27 09:25:31" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000452042" "00450446" "1" "00006" "00006" "2024-05-27 09:25:31" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000452043" "00450447" "1" "00006" "00006" "2024-05-27 09:25:31" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000452044" "00450448" "1" "00006" "00006" "2024-05-27 09:25:31" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000452045" "00450449" "1" "00006" "00006" "2024-05-27 09:25:31" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000452046" "00450450" "1" "00006" "00006" "2024-05-27 09:25:31" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000452047" "00450451" "1" "00006" "00006" "2024-05-27 09:25:31" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000452048" "00450452" "1" "00006" "00006" "2024-05-27 09:25:31" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000452049" "00450453" "1" "00006" "00006" "2024-05-27 09:25:31" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000452050" "00450454" "1" "00006" "00006" "2024-05-27 09:25:31" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000452051" "00450455" "1" "00006" "00006" "2024-05-27 09:25:31" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 24 "{{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}}" "0000324797" "0" "50" "16" "56459029" "56459029" "subst" "0" "01804" "AMFR_000001" "g.56459029G>A" "" "" "" "AMFR(NM_001144.5):c.211C>T (p.(Arg71Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56425117G>A" "" "VUS" "" "0000324798" "0" "50" "16" "56459112" "56459112" "subst" "0" "01804" "AMFR_000002" "g.56459112G>A" "" "" "" "AMFR(NM_001144.5):c.128C>T (p.(Pro43Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56425200G>A" "" "VUS" "" "0000864847" "0" "70" "16" "56459228" "56459228" "del" "0" "01943" "AMFR_000003" "g.56459228del" "" "" "" "AMFR(NM_001323512.1):c.12delC (p.F5Sfs*45)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000985982" "3" "90" "16" "56459228" "56459228" "del" "0" "00006" "AMFR_000003" "g.56459228del" "" "{PMID:Deng 2023:37119330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.56425316del" "" "pathogenic (recessive)" "" "0000985983" "3" "90" "16" "56459228" "56459228" "del" "0" "00006" "AMFR_000003" "g.56459228del" "" "{PMID:Deng 2023:37119330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.56425316del" "" "pathogenic (recessive)" "" "0000985984" "3" "90" "16" "56458986" "56458986" "subst" "0" "00006" "AMFR_000010" "g.56458986C>T" "" "{PMID:Deng 2023:37119330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.56425074C>T" "" "pathogenic (recessive)" "" "0000985985" "3" "90" "16" "56458986" "56458986" "subst" "0" "00006" "AMFR_000010" "g.56458986C>T" "" "{PMID:Deng 2023:37119330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.56425074C>T" "" "pathogenic (recessive)" "" "0000985986" "3" "90" "16" "56458986" "56458986" "subst" "0" "00006" "AMFR_000010" "g.56458986C>T" "" "{PMID:Deng 2023:37119330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.56425074C>T" "" "pathogenic (recessive)" "" "0000985987" "3" "90" "16" "56443480" "56443480" "subst" "0" "00006" "AMFR_000009" "g.56443480C>T" "" "{PMID:Deng 2023:37119330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.56409568C>T" "" "pathogenic (recessive)" "" "0000985988" "3" "90" "16" "56443480" "56443480" "subst" "0" "00006" "AMFR_000009" "g.56443480C>T" "" "{PMID:Deng 2023:37119330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.56409568C>T" "" "pathogenic (recessive)" "" "0000985989" "3" "90" "16" "56443480" "56443480" "subst" "0" "00006" "AMFR_000009" "g.56443480C>T" "" "{PMID:Deng 2023:37119330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.56409568C>T" "" "pathogenic (recessive)" "" "0000985990" "3" "90" "16" "56443480" "56443480" "subst" "0" "00006" "AMFR_000009" "g.56443480C>T" "" "{PMID:Deng 2023:37119330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.56409568C>T" "" "pathogenic (recessive)" "" "0000985991" "3" "90" "16" "56443480" "56443480" "subst" "0" "00006" "AMFR_000009" "g.56443480C>T" "" "{PMID:Deng 2023:37119330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.56409568C>T" "" "pathogenic (recessive)" "" "0000985992" "3" "90" "16" "56443480" "56443480" "subst" "0" "00006" "AMFR_000009" "g.56443480C>T" "" "{PMID:Deng 2023:37119330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.56409568C>T" "" "pathogenic (recessive)" "" "0000985993" "3" "90" "16" "56438947" "56438947" "del" "0" "00006" "AMFR_000008" "g.56438947del" "" "{PMID:Deng 2023:37119330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.56405035del" "" "pathogenic (recessive)" "" "0000985994" "3" "90" "16" "56437000" "56437003" "dup" "0" "00006" "AMFR_000007" "g.56437000_56437003dup" "" "{PMID:Deng 2023:37119330}" "" "871_874dupAGCC" "" "Germline" "" "" "0" "" "" "g.56403088_56403091dup" "" "pathogenic (recessive)" "" "0000985995" "3" "90" "16" "56437000" "56437003" "dup" "0" "00006" "AMFR_000007" "g.56437000_56437003dup" "" "{PMID:Deng 2023:37119330}" "" "871_874dupAGCC" "" "Germline" "yes" "" "0" "" "" "g.56403088_56403091dup" "" "pathogenic (recessive)" "" "0000985996" "3" "90" "16" "56437000" "56437003" "dup" "0" "00006" "AMFR_000007" "g.56437000_56437003dup" "" "{PMID:Deng 2023:37119330}" "" "871_874dupAGCC" "" "Germline" "yes" "" "0" "" "" "g.56403088_56403091dup" "" "pathogenic (recessive)" "" "0000985997" "3" "90" "16" "56435662" "56435662" "subst" "0" "00006" "AMFR_000006" "g.56435662A>T" "" "{PMID:Deng 2023:37119330}" "" "" "" "Germline" "" "" "0" "" "" "g.56401750A>T" "" "pathogenic (recessive)" "" "0000985998" "3" "90" "16" "56423281" "56423281" "subst" "0" "00006" "AMFR_000005" "g.56423281A>T" "" "{PMID:Deng 2023:37119330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.56389369A>T" "" "pathogenic (recessive)" "" "0000985999" "3" "90" "16" "56423281" "56423281" "subst" "0" "00006" "AMFR_000005" "g.56423281A>T" "" "{PMID:Deng 2023:37119330}" "" "" "" "Germline" "yes" "" "0" "" "" "g.56389369A>T" "" "pathogenic (recessive)" "" "0000986000" "3" "90" "16" "56419460" "56423388" "del" "0" "00006" "AMFR_000004" "g.56419460_56423388del" "" "{PMID:Deng 2023:37119330}" "" "del ex9-10 hg38:chr16:56385545-56389473" "" "Germline" "yes" "" "0" "" "" "g.56385548_56389476del" "" "pathogenic (recessive)" "" "0001041200" "0" "30" "16" "56401349" "56401349" "subst" "0" "01804" "AMFR_000011" "g.56401349G>A" "" "" "" "AMFR(NM_001144.6):c.1599+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055597" "0" "50" "16" "56437003" "56437003" "subst" "4.0714E-6" "01804" "AMFR_000012" "g.56437003C>T" "" "" "" "AMFR(NM_001144.6):c.868G>A (p.(Ala290Thr))" "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 AMFR ## Count = 24 "{{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}}" "0000324797" "00002428" "50" "211" "0" "211" "0" "c.211C>T" "r.(?)" "p.(Arg71Cys)" "" "0000324798" "00002428" "50" "128" "0" "128" "0" "c.128C>T" "r.(?)" "p.(Pro43Leu)" "" "0000864847" "00002428" "70" "12" "0" "12" "0" "c.12del" "r.(?)" "p.(Phe5Serfs*45)" "" "0000985982" "00002428" "90" "12" "0" "12" "0" "c.12del" "r.(?)" "p.(Phe5SerfsTer45)" "" "0000985983" "00002428" "90" "12" "0" "12" "0" "c.12del" "r.(?)" "p.(Phe5SerfsTer45)" "" "0000985984" "00002428" "90" "254" "0" "254" "0" "c.254G>A" "r.(?)" "p.(Trp85Ter)" "" "0000985985" "00002428" "90" "254" "0" "254" "0" "c.254G>A" "r.(?)" "p.(Trp85Ter)" "" "0000985986" "00002428" "90" "254" "0" "254" "0" "c.254G>A" "r.(?)" "p.(Trp85Ter)" "" "0000985987" "00002428" "90" "369" "0" "369" "0" "c.369G>A" "r.(?)" "p.(Trp123Ter)" "" "0000985988" "00002428" "90" "369" "0" "369" "0" "c.369G>A" "r.(?)" "p.(Trp123Ter)" "" "0000985989" "00002428" "90" "369" "0" "369" "0" "c.369G>A" "r.(?)" "p.(Trp123Ter)" "" "0000985990" "00002428" "90" "369" "0" "369" "0" "c.369G>A" "r.(?)" "p.(Trp123Ter)" "" "0000985991" "00002428" "90" "369" "0" "369" "0" "c.369G>A" "r.(?)" "p.(Trp123Ter)" "" "0000985992" "00002428" "90" "369" "0" "369" "0" "c.369G>A" "r.(?)" "p.(Trp123Ter)" "" "0000985993" "00002428" "90" "715" "0" "715" "0" "c.715del" "r.(?)" "p.(Ile239PhefsTer131)" "" "0000985994" "00002428" "90" "871" "0" "874" "0" "c.871_874dupAGCC" "r.(?)" "p.(Leu292GlnfsTer14)" "" "0000985995" "00002428" "90" "871" "0" "874" "0" "c.871_874dupAGCC" "r.(?)" "p.(Leu292GlnfsTer14)" "" "0000985996" "00002428" "90" "871" "0" "874" "0" "c.871_874dupAGCC" "r.(?)" "p.(Leu292GlnfsTer14)" "" "0000985997" "00002428" "90" "1068" "0" "1068" "0" "c.1068T>A" "r.(?)" "p.(Cys356Ter)" "" "0000985998" "00002428" "90" "1092" "0" "1092" "0" "c.1092T>A" "r.(?)" "p.(Cys364Ter)" "" "0000985999" "00002428" "90" "1092" "0" "1092" "0" "c.1092T>A" "r.(?)" "p.(Cys364Ter)" "" "0000986000" "00002428" "90" "1086" "-97" "1380" "375" "c.1086-97_1380+375del" "r.(1086_1380del)" "p.(Asn362LysfsTer22)" "8i_10i" "0001041200" "00002428" "30" "1599" "7" "1599" "7" "c.1599+7C>T" "r.(=)" "p.(=)" "" "0001055597" "00002428" "50" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Ala290Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000452033" "0000985982" "0000452034" "0000985983" "0000452035" "0000985984" "0000452036" "0000985985" "0000452037" "0000985986" "0000452038" "0000985987" "0000452039" "0000985988" "0000452040" "0000985989" "0000452041" "0000985990" "0000452042" "0000985991" "0000452043" "0000985992" "0000452044" "0000985993" "0000452045" "0000985994" "0000452046" "0000985995" "0000452047" "0000985996" "0000452048" "0000985997" "0000452049" "0000985998" "0000452050" "0000985999" "0000452051" "0000986000"