### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = FAM126A)
# 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}}"
"FAM126A" "family with sequence similarity 126, member A" "7" "p15.3" "unknown" "NC_000007.13" "UD_132118680093" "" "https://www.LOVD.nl/HYCC1" "" "1" "24587" "84668" "610531" "1" "1" "1" "1" "NOTE: gene name changed from FAM126A to HYCC1\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from FAM126A to HYCC1" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-08-19 13:49:24" "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}}"
"00007563" "FAM126A" "family with sequence similarity 126, member A" "001" "NM_032581.3" "" "NP_115970.2" "" "" "" "-255" "5896" "1566" "23053770" "22980878" "" "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"
"00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33"
"02955" "HLD5" "leukodystrophy, hypomyelinating, 5" "AR" "610532" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"FAM126A" "02955"
## Individuals ## Do not remove or alter this header ##
## Count = 11
"{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}"
"00035955" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035956" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035957" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035958" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035959" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035960" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00434130" "" "" "" "3" "" "00006" "{PMID:Li 2019:31842807}" "2-generation family, affected mother/2 daughters" "F" "" "China" "" "0" "" "" "" "Fam2PatII1"
"00434131" "" "" "" "5" "" "00006" "{PMID:Li 2019:31842807}" "4-generation family, 5 affected (5F)" "F" "" "China" "" "0" "" "" "" "Fam3PatIV1"
"00434132" "" "" "" "4" "" "00006" "{PMID:Li 2019:31842807}" "4-generation family, 4 affected (2F, 2M)" "F" "" "China" "" "0" "" "" "" "Fam4PatIV1"
"00445045" "" "" "" "1" "" "00006" "{PMID:Kessel 2021:34169787}" "patient" "" "" "Denmark" "" "0" "" "" "" "CCMR00655"
"00446424" "" "" "" "1" "" "00006" "{PMID:Liu 2023:37337769}" "2-generation family, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "" "Fam7Pat25"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 6
"{{individualid}}" "{{diseaseid}}"
"00035955" "00198"
"00434130" "00296"
"00434131" "00296"
"00434132" "00296"
"00445045" "00296"
"00446424" "00296"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00296, 02955
## Count = 6
"{{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}}"
"0000156315" "00198" "00035955" "01164" "Unknown" "" "Hypomyelination and congenital cataract, spastic-ataxic gait, paraparesis" "" "" "" "" "" "" "" "" "" "cataract" ""
"0000324484" "00296" "00434130" "00006" "Familial, autosomal dominant" "" "see paper; ..., nuclear/lamellar cataract, blue punctate opacities" "" "" "" "" "" "" "" "" "CTRCT14" "cataract" ""
"0000324485" "00296" "00434131" "00006" "Familial, autosomal dominant" "" "see paper; ..., total cataract" "" "" "" "" "" "" "" "" "CTRCT33" "cataract" ""
"0000324486" "00296" "00434132" "00006" "Familial, autosomal dominant" "" "see paper; ..., total cataract" "" "" "" "" "" "" "" "" "CTRCT6" "cataract" ""
"0000334297" "00296" "00445045" "00006" "Familial, autosomal recessive" "" "bilateral cataract, hypomyelination with congenital cataract" "" "" "" "" "" "" "" "" "" "cataract" ""
"0000335646" "00296" "00446424" "00006" "Familial, autosomal recessive" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" ""
## Screenings ## Do not remove or alter this header ##
## Count = 11
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000036025" "00035955" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036026" "00035956" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036027" "00035957" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036028" "00035958" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036029" "00035959" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036030" "00035960" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000435597" "00434130" "1" "00006" "00006" "2023-03-20 14:55:46" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000435598" "00434131" "1" "00006" "00006" "2023-03-20 14:55:46" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000435599" "00434132" "1" "00006" "00006" "2023-03-20 14:55:46" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000446615" "00445045" "1" "00006" "00006" "2024-01-02 15:26:57" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000447997" "00446424" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}" "{{geneid}}"
"0000036025" "FAM126A"
"0000036026" "FAM126A"
"0000036027" "FAM126A"
"0000036028" "FAM126A"
"0000036029" "FAM126A"
"0000036030" "FAM126A"
## 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 = 22
"{{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}}"
"0000063150" "1" "50" "7" "23000848" "23000848" "subst" "0" "01164" "FAM126A_000005" "g.23000848A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22961229A>G" "" "VUS" ""
"0000063151" "1" "50" "7" "22985855" "22985855" "subst" "0" "01164" "FAM126A_000002" "g.22985855A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22946236A>G" "" "VUS" ""
"0000063152" "1" "10" "7" "22985010" "22985010" "subst" "0" "01164" "FAM126A_000001" "g.22985010A>C" "" "" "" "" "" "Germline" "" "rs2286492" "0" "" "" "g.22945391A>C" "" "benign" ""
"0000063153" "1" "10" "7" "22985961" "22985961" "subst" "0" "01164" "FAM126A_000004" "g.22985961C>G" "" "" "" "" "" "Germline" "" "rs2286490" "0" "" "" "g.22946342C>G" "" "benign" ""
"0000063154" "1" "10" "7" "22985868" "22985868" "subst" "0" "01164" "FAM126A_000003" "g.22985868T>C" "" "" "" "" "" "Germline" "" "rs2286493" "0" "" "" "g.22946249T>C" "" "benign" ""
"0000063155" "1" "10" "7" "23016291" "23016291" "dup" "0" "01164" "FAM126A_000006" "g.23016291dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22976672dup" "" "benign" ""
"0000267965" "0" "10" "7" "23015831" "23015831" "subst" "0.369347" "02325" "FAM126A_000007" "g.23015831T>C" "" "" "" "HYCC1(NM_032581.4):c.624A>G (p.S208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22976212T>C" "" "benign" ""
"0000531705" "0" "50" "7" "23000919" "23000919" "subst" "0.000707835" "01943" "FAM126A_000008" "g.23000919C>G" "" "" "" "FAM126A(NM_001363466.1):c.766G>C (p.A256P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22961300C>G" "" "VUS" ""
"0000531706" "0" "30" "7" "23004149" "23004149" "subst" "3.27236E-5" "01943" "FAM126A_000009" "g.23004149T>C" "" "" "" "FAM126A(NM_032581.3):c.628A>G (p.I210V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22964530T>C" "" "likely benign" ""
"0000531707" "0" "30" "7" "23015861" "23015861" "subst" "4.08995E-6" "01943" "FAM126A_000010" "g.23015861A>T" "" "" "" "FAM126A(NM_032581.3):c.594T>A (p.V198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22976242A>T" "" "likely benign" ""
"0000678075" "0" "30" "7" "22986683" "22986683" "subst" "0" "01943" "FAM126A_000011" "g.22986683T>C" "" "" "" "FAM126A(NM_001363466.1):c.1175A>G (p.K392R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000678076" "0" "30" "7" "23017045" "23017045" "subst" "4.15082E-6" "01804" "FAM126A_000012" "g.23017045A>G" "" "" "" "FAM126A(NM_032581.3):c.334-5T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000678077" "0" "50" "7" "23018030" "23018030" "subst" "0.00118459" "01943" "FAM126A_000013" "g.23018030T>C" "" "" "" "FAM126A(NM_001363466.1):c.191A>G (p.Y64C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000721412" "0" "30" "7" "23016389" "23016389" "subst" "0" "01943" "FAM126A_000014" "g.23016389T>A" "" "" "" "FAM126A(NM_001363466.1):c.453A>T (p.A151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000803106" "0" "50" "7" "23000002" "23000002" "subst" "0.000101638" "01943" "FAM126A_000015" "g.23000002A>C" "" "" "" "FAM126A(NM_001363466.1):c.864T>G (p.H288Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000803107" "0" "50" "7" "23030690" "23030690" "subst" "0" "01943" "FAM126A_000016" "g.23030690G>A" "" "" "" "FAM126A(NM_001363466.1):c.41C>T (p.S14L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000921658" "0" "30" "7" "23015831" "23015831" "subst" "0.369347" "00006" "FAM126A_000007" "g.23015831T>C" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs3735231" "0" "" "" "g.22976212T>C" "" "likely benign" ""
"0000921686" "0" "30" "7" "23015831" "23015831" "subst" "0.369347" "00006" "FAM126A_000007" "g.23015831T>C" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs3735231" "0" "" "" "g.22976212T>C" "" "likely benign" ""
"0000921712" "0" "30" "7" "23015831" "23015831" "subst" "0.369347" "00006" "FAM126A_000007" "g.23015831T>C" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs3735231" "0" "" "" "g.22976212T>C" "" "likely benign" ""
"0000954968" "3" "70" "7" "23000036" "23000036" "subst" "0" "00006" "FAM126A_000017" "g.23000036T>A" "" "{PMID:Kessel 2021:34169787}" "" "" "ACMG PSV1, PM2" "Germline" "" "" "0" "" "" "g.22960417T>A" "" "likely pathogenic (recessive)" ""
"0000957377" "3" "90" "7" "23018061" "23018062" "dup" "0" "00006" "FAM126A_000018" "g.23018061_23018062dup" "" "{PMID:Liu 2023:37337769}" "" "161_162insGA" "" "Germline" "yes" "" "0" "" "" "g.22978442_22978443dup" "" "pathogenic (recessive)" ""
"0001052633" "0" "50" "7" "22999990" "22999990" "subst" "0" "01804" "FAM126A_000019" "g.22999990T>C" "" "" "" "FAM126A(NM_032581.4):c.876A>G (p.(Lys292=))" "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 FAM126A
## Count = 22
"{{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}}"
"0000063150" "00007563" "50" "831" "6" "831" "6" "c.831+6T>C" "r.(=)" "p.(=)" ""
"0000063151" "00007563" "50" "992" "-73" "992" "-73" "c.992-73T>C" "r.(=)" "p.(=)" ""
"0000063152" "00007563" "10" "1764" "0" "1764" "0" "c.*198T>G" "r.(=)" "p.(=)" ""
"0000063153" "00007563" "10" "992" "-179" "992" "-179" "c.992-179G>C" "r.(=)" "p.(=)" ""
"0000063154" "00007563" "10" "992" "-86" "992" "-86" "c.992-86A>G" "r.(=)" "p.(=)" ""
"0000063155" "00007563" "10" "530" "22" "530" "22" "c.530+22dup" "r.(=)" "p.(=)" ""
"0000267965" "00007563" "10" "624" "0" "624" "0" "c.624A>G" "r.(?)" "p.(Ser208=)" ""
"0000531705" "00007563" "50" "766" "0" "766" "0" "c.766G>C" "r.(?)" "p.(Ala256Pro)" ""
"0000531706" "00007563" "30" "628" "0" "628" "0" "c.628A>G" "r.(?)" "p.(Ile210Val)" ""
"0000531707" "00007563" "30" "594" "0" "594" "0" "c.594T>A" "r.(?)" "p.(Val198=)" ""
"0000678075" "00007563" "30" "992" "-901" "992" "-901" "c.992-901A>G" "r.(=)" "p.(=)" ""
"0000678076" "00007563" "30" "334" "-5" "334" "-5" "c.334-5T>C" "r.spl?" "p.?" ""
"0000678077" "00007563" "50" "191" "0" "191" "0" "c.191A>G" "r.(?)" "p.(Tyr64Cys)" ""
"0000721412" "00007563" "30" "453" "0" "453" "0" "c.453A>T" "r.(?)" "p.(Ala151=)" ""
"0000803106" "00007563" "50" "864" "0" "864" "0" "c.864T>G" "r.(?)" "p.(His288Gln)" ""
"0000803107" "00007563" "50" "41" "0" "41" "0" "c.41C>T" "r.(?)" "p.(Ser14Leu)" ""
"0000921658" "00007563" "30" "624" "0" "624" "0" "c.624A>G" "r.(?)" "p.(Ser208=)" ""
"0000921686" "00007563" "30" "624" "0" "624" "0" "c.624A>G" "r.(?)" "p.(Ser208=)" ""
"0000921712" "00007563" "30" "624" "0" "624" "0" "c.624A>G" "r.(?)" "p.(Ser208=)" ""
"0000954968" "00007563" "70" "832" "-2" "832" "-2" "c.832-2A>T" "r.spl" "p.?" ""
"0000957377" "00007563" "90" "160" "0" "161" "0" "c.160_161dup" "r.(?)" "p.(Pro55AsnfsTer29)" "4"
"0001052633" "00007563" "50" "876" "0" "876" "0" "c.876A>G" "r.(?)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 11
"{{screeningid}}" "{{variantid}}"
"0000036025" "0000063150"
"0000036026" "0000063151"
"0000036027" "0000063152"
"0000036028" "0000063153"
"0000036029" "0000063154"
"0000036030" "0000063155"
"0000435597" "0000921658"
"0000435598" "0000921686"
"0000435599" "0000921712"
"0000446615" "0000954968"
"0000447997" "0000957377"