### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FAM134B) # 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}}" "FAM134B" "family with sequence similarity 134, member B" "5" "p15.1" "unknown" "NC_000005.9" "UD_134408214142" "" "https://www.LOVD.nl/FAM134B" "" "1" "25964" "54463" "613114" "1" "1" "1" "1" "This database is one of the gene variant databases from the:.\r\nVariants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB." "" "" "" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2012-05-23 00:00:00" "00006" "2018-01-27 17:40:11" "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}}" "00007581" "FAM134B" "transcript variant 1" "001" "NM_001034850.2" "" "NP_001030022.1" "" "" "" "-87" "3197" "1494" "16617167" "16473147" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03261" "HSAN2B" "neuropathy, sensory and autonomic, hereditary, type IIB (HSAN-2B)" "AR" "613115" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05383" "HSAN" "neuropathy, sensory and autonomic, hereditary (HSAN)" "" "" "" "" "" "00006" "2018-01-27 17:13:02" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "FAM134B" "03261" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00151867" "" "" "" "1" "" "00006" "{PMID:Kurth 2009:19838196}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Italy" "" "0" "" "" "" "19838196-FamCMT396" "00151868" "" "" "" "2" "" "00006" "{PMID:Kurth 2009:19838196}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "?" "Turkey" "" "0" "" "" "" "19838196-FamCMT115" "00151869" "" "" "" "4" "" "00006" "{PMID:Kurth 2009:19838196}" "2-generation family, 4 affecteds (2F, 2M), unaffected heterozygous carrier parents" "F;M" "yes" "Saudi Arabia" "" "0" "" "" "" "19838196-Fam1" "00151870" "" "" "" "2" "" "00006" "{PMID:Kurth 2009:19838196}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "United Arab Emirates" "" "0" "" "" "Dubai" "19838196-FamCMT866" "00293807" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00151867" "05383" "00151868" "05383" "00151869" "05383" "00151870" "05383" "00293807" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03261, 05383 ## Count = 4 "{{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}}" "0000124230" "05383" "00151867" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HSAN-2B" "sensory and autonomic neuropathy type II" "" "0000124231" "05383" "00151868" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HSAN-2B" "sensory and autonomic neuropathy type II" "" "0000124232" "05383" "00151869" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HSAN-2B" "sensory and autonomic neuropathy type II" "" "0000124233" "05383" "00151870" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HSAN-2B" "sensory and autonomic neuropathy type II" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000152724" "00151867" "1" "00006" "00006" "2012-11-05 15:09:10" "" "" "SEQ" "DNA" "" "" "0000152725" "00151868" "1" "00006" "00006" "2012-11-05 15:09:10" "" "" "SEQ" "DNA" "" "" "0000152726" "00151869" "1" "00006" "00006" "2012-11-05 15:09:10" "" "" "SEQ" "DNA" "" "" "0000152727" "00151870" "1" "00006" "00006" "2018-01-27 17:36:28" "" "" "SEQ" "DNA" "" "" "0000294975" "00293807" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000152724" "FAM134B" "0000152725" "FAM134B" "0000152726" "FAM134B" "0000152727" "FAM134B" ## 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 = 44 "{{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}}" "0000246324" "0" "10" "5" "16508674" "16508674" "subst" "0.563113" "02330" "FAM134B_000013" "g.16508674A>G" "" "" "" "RETREG1(NM_001034850.3):c.459-25093T>C, RETREG1(NM_019000.5):c.35+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16508565A>G" "" "benign" "" "0000246325" "0" "10" "5" "16617099" "16617099" "subst" "0.795273" "02330" "FAM134B_000016" "g.16617099A>G" "" "" "" "RETREG1(NM_001034850.3):c.-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16616990A>G" "" "benign" "" "0000246331" "0" "10" "5" "16481185" "16481185" "subst" "0.0284016" "02330" "FAM134B_000012" "g.16481185A>G" "" "" "" "RETREG1(NM_001034850.3):c.603T>C (p.C201=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16481076A>G" "" "benign" "" "0000246374" "0" "30" "5" "16475255" "16475255" "subst" "0.000667242" "02330" "FAM134B_000018" "g.16475255A>G" "" "" "" "RETREG1(NM_001034850.3):c.1089T>C (p.D363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16475146A>G" "" "likely benign" "" "0000246395" "0" "90" "5" "16478141" "16478141" "subst" "0" "02330" "FAM134B_000008" "g.16478141A>G" "" "" "" "RETREG1(NM_001034850.3):c.873+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16478032A>G" "" "pathogenic" "" "0000248433" "0" "10" "5" "16508674" "16508674" "subst" "0.563113" "02325" "FAM134B_000013" "g.16508674A>G" "" "" "" "RETREG1(NM_001034850.3):c.459-25093T>C, RETREG1(NM_019000.5):c.35+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16508565A>G" "" "benign" "" "0000248434" "0" "10" "5" "16617099" "16617099" "subst" "0.795273" "02325" "FAM134B_000016" "g.16617099A>G" "" "" "" "RETREG1(NM_001034850.3):c.-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16616990A>G" "" "benign" "" "0000265977" "0" "10" "5" "16508898" "16508898" "subst" "0" "02330" "FAM134B_000003" "g.16508898T>C" "" "" "" "RETREG1(NM_019000.5):c.-177A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16508789T>C" "" "benign" "" "0000265978" "0" "10" "5" "16477751" "16477751" "subst" "0.653486" "02330" "FAM134B_000010" "g.16477751C>A" "" "" "" "RETREG1(NM_001034850.3):c.1000+20G>T, RETREG1(NM_019000.5):c.577+20G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16477642C>A" "" "benign" "" "0000265979" "0" "10" "5" "16475199" "16475199" "subst" "0.00814157" "02330" "FAM134B_000001" "g.16475199C>G" "" "" "" "RETREG1(NM_001034850.3):c.1145G>C (p.S382T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16475090C>G" "" "benign" "" "0000265980" "0" "10" "5" "16572153" "16572153" "subst" "0.00641078" "02330" "FAM134B_000015" "g.16572153G>A" "" "" "" "RETREG1(NM_001034850.3):c.379C>T (p.R127C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16572044G>A" "" "benign" "" "0000265981" "0" "90" "5" "16565897" "16565897" "subst" "0" "02330" "FAM134B_000007" "g.16565897G>A" "" "" "" "RETREG1(NM_001034850.3):c.433C>T (p.Q145*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16565788G>A" "" "pathogenic" "" "0000265982" "0" "30" "5" "16565892" "16565892" "subst" "0.00217473" "02330" "FAM134B_000014" "g.16565892C>T" "" "" "" "RETREG1(NM_001034850.3):c.438G>A (p.L146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16565783C>T" "" "likely benign" "" "0000265983" "0" "10" "5" "16478200" "16478200" "subst" "0.652957" "02330" "FAM134B_000011" "g.16478200G>A" "" "" "" "RETREG1(NM_001034850.3):c.816C>T (p.D272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16478091G>A" "" "benign" "" "0000265984" "0" "90" "5" "16477845" "16477845" "subst" "0" "02330" "FAM134B_000002" "g.16477845G>C" "" "" "" "RETREG1(NM_001034850.3):c.926C>G (p.S309*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16477736G>C" "" "pathogenic" "" "0000267966" "0" "10" "5" "16477751" "16477751" "subst" "0.653486" "02325" "FAM134B_000010" "g.16477751C>A" "" "" "" "RETREG1(NM_001034850.3):c.1000+20G>T, RETREG1(NM_019000.5):c.577+20G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16477642C>A" "" "benign" "" "0000267967" "0" "10" "5" "16478200" "16478200" "subst" "0.652957" "02325" "FAM134B_000011" "g.16478200G>A" "" "" "" "RETREG1(NM_001034850.3):c.816C>T (p.D272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16478091G>A" "" "benign" "" "0000351559" "3" "90" "5" "16617063" "16617064" "del" "0" "00006" "FAM134B_000004" "g.16617063_16617064del" "" "{PMID:Kurth 2009:19838196}" "" "18_19delTC" "" "Germline" "" "" "0" "" "" "g.16616954_16616955del" "" "pathogenic" "" "0000351560" "3" "90" "5" "16565897" "16565897" "subst" "0" "00006" "FAM134B_000005" "g.16565897G>A" "" "{PMID:Kurth 2009:19838196}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16565788G>A" "" "pathogenic" "" "0000351561" "3" "90" "5" "16477845" "16477845" "subst" "0" "00006" "FAM134B_000006" "g.16477845G>C" "" "{PMID:Kurth 2009:19838196}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16477736G>C" "" "pathogenic" "" "0000351562" "3" "90" "5" "16478141" "16478141" "subst" "0" "00006" "FAM134B_000008" "g.16478141A>G" "" "{PMID:Kurth 2009:19838196}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16478032A>G" "" "pathogenic" "" "0000525119" "0" "30" "5" "16475209" "16475209" "subst" "0.0026547" "02330" "FAM134B_000017" "g.16475209G>C" "" "" "" "RETREG1(NM_001034850.3):c.1135C>G (p.Q379E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16475100G>C" "" "likely benign" "" "0000525120" "0" "10" "5" "16475360" "16475360" "subst" "0.0062326" "02330" "FAM134B_000019" "g.16475360A>G" "" "" "" "RETREG1(NM_001034850.3):c.1001-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16475251A>G" "" "benign" "" "0000525121" "0" "30" "5" "16481181" "16481181" "subst" "0.00323494" "02330" "FAM134B_000020" "g.16481181C>T" "" "" "" "FAM134B(NM_001034850.2):c.607G>A (p.V203M), RETREG1(NM_001034850.2):c.607G>A (p.V203M), RETREG1(NM_001034850.3):c.607G>A (p.V203M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16481072C>T" "" "likely benign" "" "0000525122" "0" "50" "5" "16481181" "16481181" "subst" "0.00323494" "01943" "FAM134B_000020" "g.16481181C>T" "" "" "" "FAM134B(NM_001034850.2):c.607G>A (p.V203M), RETREG1(NM_001034850.2):c.607G>A (p.V203M), RETREG1(NM_001034850.3):c.607G>A (p.V203M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16481072C>T" "" "VUS" "" "0000525123" "0" "30" "5" "16565853" "16565853" "subst" "0.000463822" "02330" "FAM134B_000021" "g.16565853C>T" "" "" "" "RETREG1(NM_001034850.3):c.458+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16565744C>T" "" "likely benign" "" "0000525124" "0" "50" "5" "16616950" "16616950" "subst" "0" "02330" "FAM134B_000022" "g.16616950G>A" "" "" "" "RETREG1(NM_001034850.3):c.131C>T (p.A44V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16616841G>A" "" "VUS" "" "0000525125" "0" "30" "5" "16617075" "16617075" "subst" "0.000327547" "02330" "FAM134B_000023" "g.16617075C>G" "" "" "" "RETREG1(NM_001034850.3):c.6G>C (p.A2=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16616966C>G" "" "likely benign" "" "0000609622" "0" "50" "5" "16475277" "16475277" "subst" "0" "02330" "FAM134B_000024" "g.16475277C>T" "" "" "" "RETREG1(NM_001034850.3):c.1067G>A (p.G356D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16475168C>T" "" "VUS" "" "0000609623" "0" "30" "5" "16481181" "16481181" "subst" "0.00323494" "02326" "FAM134B_000020" "g.16481181C>T" "" "" "" "FAM134B(NM_001034850.2):c.607G>A (p.V203M), RETREG1(NM_001034850.2):c.607G>A (p.V203M), RETREG1(NM_001034850.3):c.607G>A (p.V203M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16481072C>T" "" "likely benign" "" "0000609624" "0" "50" "5" "16616864" "16616864" "subst" "2.46039E-5" "02330" "FAM134B_000027" "g.16616864C>G" "" "" "" "RETREG1(NM_001034850.3):c.217G>C (p.G73R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16616755C>G" "" "VUS" "" "0000621525" "0" "50" "5" "16483469" "16483469" "subst" "0" "01943" "FAM134B_000025" "g.16483469G>A" "" "" "" "RETREG1(NM_001034850.2):c.571C>T (p.Q191*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16483360G>A" "" "VUS" "" "0000621526" "0" "50" "5" "16572152" "16572152" "subst" "0.000227492" "02330" "FAM134B_000026" "g.16572152C>T" "" "" "" "RETREG1(NM_001034850.3):c.380G>A (p.R127H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16572043C>T" "" "VUS" "" "0000651664" "1" "50" "5" "16481181" "16481181" "subst" "0.00323494" "03575" "FAM134B_000020" "g.16481181C>T" "11/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 11 heterozygous, no homozygous; {DB:CLININrs143878016}" "Germline" "" "rs143878016" "0" "" "" "g.16481072C>T" "" "VUS" "" "0000655346" "0" "50" "5" "16481181" "16481181" "subst" "0.00323494" "02325" "FAM134B_000020" "g.16481181C>T" "" "" "" "FAM134B(NM_001034850.2):c.607G>A (p.V203M), RETREG1(NM_001034850.2):c.607G>A (p.V203M), RETREG1(NM_001034850.3):c.607G>A (p.V203M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16481072C>T" "" "VUS" "" "0000677457" "0" "50" "5" "16483571" "16483571" "subst" "0" "02330" "FAM134B_000028" "g.16483571T>C" "" "" "" "RETREG1(NM_001034850.3):c.469A>G (p.I157V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720329" "0" "30" "5" "16617063" "16617063" "subst" "0.000166601" "02326" "FAM134B_000029" "g.16617063A>C" "" "" "" "RETREG1(NM_001034850.2):c.18T>G (p.P6=), RETREG1(NM_001034850.3):c.18T>G (p.P6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802015" "0" "30" "5" "16617063" "16617063" "subst" "0.000166601" "02330" "FAM134B_000029" "g.16617063A>C" "" "" "" "RETREG1(NM_001034850.2):c.18T>G (p.P6=), RETREG1(NM_001034850.3):c.18T>G (p.P6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850863" "0" "50" "5" "16565889" "16565889" "subst" "0" "01943" "FAM134B_000030" "g.16565889C>A" "" "" "" "RETREG1(NM_001034850.2):c.441G>T (p.W147C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886729" "0" "30" "5" "16616901" "16616901" "subst" "1.67985E-5" "02330" "FAM134B_000031" "g.16616901G>T" "" "" "" "RETREG1(NM_001034850.3):c.180C>A (p.A60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886730" "0" "50" "5" "16617062" "16617062" "subst" "1.51181E-5" "02330" "FAM134B_000032" "g.16617062G>A" "" "" "" "RETREG1(NM_001034850.3):c.19C>T (p.P7S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948517" "0" "30" "5" "16483442" "16483442" "subst" "4.06729E-6" "02330" "FAM134B_000033" "g.16483442C>T" "" "" "" "RETREG1(NM_001034850.3):c.585+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976704" "0" "50" "5" "16474866" "16474866" "subst" "0" "01804" "FAM134B_000034" "g.16474866A>C" "" "" "" "RETREG1(NM_001034850.3):c.1478T>G (p.(Leu493Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035073" "0" "50" "5" "16477863" "16477863" "subst" "2.84764E-5" "01804" "FAM134B_000035" "g.16477863A>C" "" "" "" "RETREG1(NM_001034850.3):c.908T>G (p.(Val303Gly))" "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 FAM134B ## Count = 44 "{{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}}" "0000246324" "00007581" "10" "459" "-25093" "459" "-25093" "c.459-25093T>C" "r.(=)" "p.(=)" "" "0000246325" "00007581" "10" "-19" "0" "-19" "0" "c.-19=" "r.(=)" "p.(=)" "" "0000246331" "00007581" "10" "603" "0" "603" "0" "c.603T>C" "r.(?)" "p.(Cys201=)" "" "0000246374" "00007581" "30" "1089" "0" "1089" "0" "c.1089T>C" "r.(?)" "p.(Asp363=)" "" "0000246395" "00007581" "90" "873" "2" "873" "2" "c.873+2T>C" "r.spl?" "p.?" "" "0000248433" "00007581" "10" "459" "-25093" "459" "-25093" "c.459-25093T>C" "r.(=)" "p.(=)" "" "0000248434" "00007581" "10" "-19" "0" "-19" "0" "c.-19=" "r.(=)" "p.(=)" "" "0000265977" "00007581" "10" "459" "-25317" "459" "-25317" "c.459-25317A>G" "r.(=)" "p.(=)" "" "0000265978" "00007581" "10" "1000" "20" "1000" "20" "c.1000+20G>T" "r.(=)" "p.(=)" "" "0000265979" "00007581" "10" "1145" "0" "1145" "0" "c.1145G>C" "r.(?)" "p.(Ser382Thr)" "" "0000265980" "00007581" "10" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Cys)" "" "0000265981" "00007581" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Gln145Ter)" "" "0000265982" "00007581" "30" "438" "0" "438" "0" "c.438G>A" "r.(?)" "p.(Leu146=)" "" "0000265983" "00007581" "10" "816" "0" "816" "0" "c.816C>T" "r.(?)" "p.(Asp272=)" "" "0000265984" "00007581" "90" "926" "0" "926" "0" "c.926C>G" "r.(?)" "p.(Ser309Ter)" "" "0000267966" "00007581" "10" "1000" "20" "1000" "20" "c.1000+20G>T" "r.(=)" "p.(=)" "" "0000267967" "00007581" "10" "816" "0" "816" "0" "c.816C>T" "r.(?)" "p.(Asp272=)" "" "0000351559" "00007581" "90" "18" "0" "19" "0" "c.18_19del" "r.(?)" "p.(Pro7Glyfs*133)" "1" "0000351560" "00007581" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Gln145*)" "3" "0000351561" "00007581" "90" "926" "0" "926" "0" "c.926C>G" "r.(?)" "p.(Ser309*)" "8" "0000351562" "00007581" "90" "873" "2" "873" "2" "c.873+2T>C" "r.spl?" "p.?" "7i" "0000525119" "00007581" "30" "1135" "0" "1135" "0" "c.1135C>G" "r.(?)" "p.(Gln379Glu)" "" "0000525120" "00007581" "10" "1001" "-17" "1001" "-17" "c.1001-17T>C" "r.(=)" "p.(=)" "" "0000525121" "00007581" "30" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Val203Met)" "" "0000525122" "00007581" "50" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Val203Met)" "" "0000525123" "00007581" "30" "458" "19" "458" "19" "c.458+19G>A" "r.(=)" "p.(=)" "" "0000525124" "00007581" "50" "131" "0" "131" "0" "c.131C>T" "r.(?)" "p.(Ala44Val)" "" "0000525125" "00007581" "30" "6" "0" "6" "0" "c.6G>C" "r.(?)" "p.(Ala2=)" "" "0000609622" "00007581" "50" "1067" "0" "1067" "0" "c.1067G>A" "r.(?)" "p.(Gly356Asp)" "" "0000609623" "00007581" "30" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Val203Met)" "" "0000609624" "00007581" "50" "217" "0" "217" "0" "c.217G>C" "r.(?)" "p.(Gly73Arg)" "" "0000621525" "00007581" "50" "571" "0" "571" "0" "c.571C>T" "r.(?)" "p.(Gln191Ter)" "" "0000621526" "00007581" "50" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Arg127His)" "" "0000651664" "00007581" "50" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Val203Met)" "" "0000655346" "00007581" "50" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Val203Met)" "" "0000677457" "00007581" "50" "469" "0" "469" "0" "c.469A>G" "r.(?)" "p.(Ile157Val)" "" "0000720329" "00007581" "30" "18" "0" "18" "0" "c.18T>G" "r.(?)" "p.(Pro6=)" "" "0000802015" "00007581" "30" "18" "0" "18" "0" "c.18T>G" "r.(?)" "p.(Pro6=)" "" "0000850863" "00007581" "50" "441" "0" "441" "0" "c.441G>T" "r.(?)" "p.(Trp147Cys)" "" "0000886729" "00007581" "30" "180" "0" "180" "0" "c.180C>A" "r.(?)" "p.(Ala60=)" "" "0000886730" "00007581" "50" "19" "0" "19" "0" "c.19C>T" "r.(?)" "p.(Pro7Ser)" "" "0000948517" "00007581" "30" "585" "13" "585" "13" "c.585+13G>A" "r.(=)" "p.(=)" "" "0000976704" "00007581" "50" "1478" "0" "1478" "0" "c.1478T>G" "r.(?)" "p.(Leu493Arg)" "" "0001035073" "00007581" "50" "908" "0" "908" "0" "c.908T>G" "r.(?)" "p.(Val303Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000152724" "0000351559" "0000152725" "0000351560" "0000152726" "0000351561" "0000152727" "0000351562" "0000294975" "0000651664"