### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SPECC1L) # 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}}" "SPECC1L" "sperm antigen with calponin homology and coiled-coil domains 1-like" "22" "q11.23" "unknown" "NC_000022.10" "UD_136018513688" "" "http://www.LOVD.nl/SPECC1L" "" "1" "29022" "23384" "614140" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/SPECC1L_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-01-28 21:50:22" "00000" "2024-08-28 13:16:32" ## 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}}" "00020161" "SPECC1L" "transcript variant 1" "001" "NM_015330.3" "" "NP_056145.3" "" "" "" "-303" "6471" "3354" "24666790" "24813708" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01045" "GBBB2" "Opitz GBBB syndrome, type 2, autosomal dominant (GBBB2)" "AD" "145410" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02296" "OBLFC1" "facial clefting, oblique, type 1 (OBLFC1, oculomaxillofacial dysplasia)" "AD" "600251" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-04-06 19:16:14" "04195" "SGMRT1" "Singleton-Merten syndrome, type 1 (SGMRT-1)" "AD" "182250" "" "" "" "00006" "2015-02-15 21:43:59" "00006" "2021-12-10 21:51:32" "05915" "TBHS" "hypertelorism, Teebi type syndrome (TBHS)" "AD" "" "" "" "" "00006" "2021-04-06 19:13:17" "" "" "06534" "TBHS" "Hypertelorism, Teebi type" "AD" "145420" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "SPECC1L" "01045" "SPECC1L" "02296" "SPECC1L" "05915" "SPECC1L" "06534" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00029712" "" "" "" "7" "" "00006" "{PMID:Kruszka 2015:25412741}, {DOI:Kruszka 2015:10.1136/jmedgenet-2014-102677}" "3-generation family, affected grandmother, 2 daugthers and 4 grand children (F, 3M)" "" "no" "United States" "" "0" "" "" "" "" "00029713" "" "" "" "8" "" "00006" "{PMID:Kruszka 2015:25412741}, {DOI:Kruszka 2015:10.1136/jmedgenet-2014-102677}" "3-generation family, affected grandmother, 2 daugthers/3 sons and 2 grandchildren (2F)" "" "no" "United States" "" "0" "" "" "" "" "00029714" "" "" "" "1" "" "00006" "{PMID:Saadi 2011:21703590}, {DOI:Saadi 2011:10.1016/j.ajhg.2011.05.023}" "2-generation family, affected male, unaffected parents" "M" "no" "Brazil" "" "0" "" "" "" "" "00029715" "" "" "" "1" "" "00006" "{PMID:Saadi 2011:21703590}, {DOI:Saadi 2011:10.1016/j.ajhg.2011.05.023}" "2-generation family, 1 affected" "M" "" "Brazil" "" "0" "" "" "" "" "00029718" "" "" "" "1" "" "00006" "{PMID:Saadi 2011:21703590}, {DOI:Saadi 2011:10.1016/j.ajhg.2011.05.023}" "" "F" "" "United States" "" "0" "" "" "white, European" "" "00032348" "" "" "" "1" "" "00006" "{PMID:Rutsch 2015:25620204}, {DOI:Rutsch 2015:10.1016/j.ajhg.2014.12.014}" "2-generation family, 1 affected" "F" "no" "" "" "0" "" "" "" "" "00293073" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00446571" "" "" "" "1" "" "04614" "" "" "F" "no" "Spain" "" "" "" "" "Spain" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00029712" "01045" "00029713" "01045" "00029714" "02296" "00029715" "02296" "00029718" "02296" "00032348" "04195" "00293073" "00198" "00446571" "05915" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01045, 02296, 04195, 05915, 06534 ## Count = 7 "{{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}}" "0000025723" "01045" "00029712" "00006" "Familial, autosomal dominant" "" "see paper; .." "" "" "" "" "" "" "" "" "" "" "" "0000025724" "01045" "00029713" "00006" "Familial, autosomal dominant" "" "see paper; .." "" "" "" "" "" "" "" "" "" "" "" "0000025725" "02296" "00029714" "00006" "Isolated (sporadic)" "" "severe right unilateral Tessier IV clefting, mild left Tessier VII clefting, normal eyes, no other birth defects" "" "" "" "" "" "" "" "" "" "" "" "0000025726" "02296" "00029715" "00006" "Unknown" "" "Tessier IV clefting" "" "" "" "" "" "" "" "" "" "" "" "0000025729" "02296" "00029718" "00006" "Isolated (sporadic)" "" "bilateral oromedial-canthal (Tessier IV) clefts, microphthalmia, cleft palate, unilateral talipes calcaneovarus foot deformity; head CT-scan showed normal brain parenchyma, severe bilateral ocular hypoplasia" "" "" "" "" "" "" "" "" "" "" "" "0000025814" "04195" "00032348" "00006" "Isolated (sporadic)" "" "see paper; .." "" "" "" "" "" "" "" "" "" "" "" "0000335773" "05915" "00446571" "04614" "Isolated (sporadic)" "7 days" "hypertelorism (HP:0000316); omphalocele (HP:0001539); bicornuate uterus (HP:0000813); congenital diaphragmatic hernia (HP:0000776)" "00y01m" "00y08m" "" "" "" "" "" "" "TBHS1" "multiple congenital anomalies" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000029759" "00029712" "1" "00006" "00006" "2015-01-28 22:00:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000029760" "00029713" "1" "00006" "00006" "2015-01-28 22:06:35" "" "" "SEQ" "DNA" "" "" "0000029761" "00029714" "1" "00006" "00006" "2015-01-28 23:07:38" "" "" "SEQ" "DNA" "" "" "0000029762" "00029715" "1" "00006" "00006" "2015-01-28 23:11:01" "" "" "SEQ" "DNA" "" "" "0000029765" "00029718" "1" "00006" "00006" "2015-01-31 22:13:15" "" "" "arrayCGH;FISH;PCR;RT-PCR;Southern" "DNA;RNA" "" "" "0000032415" "00032348" "1" "00006" "00006" "2015-02-15 22:08:27" "00006" "2015-02-15 22:16:33" "SEQ;SEQ-NG" "DNA" "" "" "0000294241" "00293073" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000448144" "00446571" "1" "04614" "04614" "2024-01-18 09:13:19" "" "" "SEQ-NG" "DNA" "blood" "whole genome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000029759" "EFNB1" "0000029759" "MID1" "0000029759" "SPECC1L" "0000029760" "SPECC1L" "0000029761" "SPECC1L" "0000029762" "SPECC1L" "0000032415" "IFIH1" "0000032415" "SPECC1L" ## 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 = 45 "{{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}}" "0000053176" "21" "90" "22" "24718137" "24718137" "subst" "0" "00006" "SPECC1L_000001" "g.24718137A>C" "" "{PMID:Kruszka 2015:25412741}, {DOI:Kruszka 2015:10.1136/jmedgenet-2014-102677}" "" "" "" "Germline" "yes" "" "0" "" "" "g.24322169A>C" "" "pathogenic" "" "0000053177" "11" "90" "22" "24808658" "24808658" "subst" "8.12288E-6" "00006" "SPECC1L_000002" "g.24808658G>A" "1/19 cases" "{PMID:Kruszka 2015:25412741}, {DOI:Kruszka 2015:10.1136/jmedgenet-2014-102677}" "" "" "" "Germline" "yes" "" "0" "" "" "g.24412690G>A" "" "pathogenic" "" "0000053178" "1" "90" "22" "24718192" "24718192" "subst" "0" "00006" "SPECC1L_000003" "g.24718192A>C" "" "{PMID:Saadi 2011:21703590}, {DOI:Saadi 2011:10.1016/j.ajhg.2011.05.023}, {OMIM614140:0001}" "" "" "not in 616 control chromosomes" "De novo" "yes" "rs387907108" "0" "" "" "g.24322224A>C" "" "pathogenic" "" "0000053179" "21" "30" "22" "24717517" "24717517" "subst" "0.0005117" "00006" "SPECC1L_000004" "g.24717517C>T" "" "{PMID:Saadi 2011:21703590}, {DOI:Saadi 2011:10.1016/j.ajhg.2011.05.023}" "" "" "carrier mother so variant not disease associated" "Germline" "" "" "0" "" "" "g.24321549C>T" "" "likely benign" "" "0000055806" "1" "90" "22" "0" "0" "" "0" "00006" "SPECC1L_000005" "g.(24792059_24798018)_qterdelins[NC_000001.10:(151446793_151485910)_qter]" "" "{PMID:Saadi 2011:21703590}, {DOI:Saadi 2011:10.1016/j.ajhg.2011.05.023}" "" "hg18 g.(23122059_23128018)::(149713417_149752534)" "RNA haploinsufficiency lymphoblastoid cells" "Unknown" "-" "" "0" "" "46,XX,t(1;22)(q21;q12)" "" "" "pathogenic (dominant)" "" "0000058543" "0" "70" "22" "24717255" "24717255" "subst" "0" "00006" "SPECC1L_000006" "g.24717255G>A" "" "{PMID:Rutsch 2015:25620204}, {DOI:Rutsch 2015:10.1016/j.ajhg.2014.12.014}" "" "" "de novo in patient; reported not associated with phenotype" "De novo" "" "" "0" "" "" "g.24321287G>A" "" "likely pathogenic" "" "0000248747" "0" "10" "22" "24717850" "24717850" "subst" "0.999951" "02325" "SPECC1L_000009" "g.24717850A>G" "" "" "" "SPECC1L(NM_015330.6):c.902A>G (p.D301G), SPECC1L-ADORA2A(NR_103546.1):n.1210A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24321882=" "" "benign" "" "0000251916" "0" "30" "22" "24717444" "24717444" "subst" "0.000511642" "02326" "SPECC1L_000007" "g.24717444A>G" "" "" "" "SPECC1L(NM_015330.4):c.496A>G (p.M166V), SPECC1L(NM_015330.6):c.496A>G (p.M166V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24321476A>G" "" "likely benign" "" "0000298450" "0" "10" "22" "24761467" "24761467" "subst" "0.999935" "02325" "SPECC1L_000011" "g.24761467G>A" "" "" "" "SPECC1L(NM_015330.6):c.2851G>A (p.V951M), SPECC1L-ADORA2A(NR_103546.1):n.3281G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24365499G>A" "" "benign" "" "0000298453" "0" "10" "22" "24717518" "24717518" "subst" "0.245057" "02325" "SPECC1L_000008" "g.24717518G>A" "" "" "" "SPECC1L(NM_015330.4):c.570G>A (p.T190=), SPECC1L(NM_015330.6):c.570G>A (p.T190=), SPECC1L-ADORA2A(NR_103546.1):n.878G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24321550G>A" "" "benign" "" "0000299681" "0" "70" "22" "24718188" "24718188" "subst" "0" "02329" "SPECC1L_000010" "g.24718188C>A" "" "" "" "SPECC1L(NM_015330.4):c.1240C>A (p.L414I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24322220C>A" "" "likely pathogenic" "" "0000343758" "0" "70" "22" "24718251" "24718251" "subst" "0" "02327" "SPECC1L_000012" "g.24718251A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24322283A>G" "" "likely pathogenic" "" "0000571570" "0" "30" "22" "24709327" "24709327" "subst" "2.84255E-5" "01804" "SPECC1L-ADORA2A_000001" "g.24709327C>T" "" "" "" "SPECC1L(NM_015330.4):c.200C>T (p.(Thr67Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24313359C>T" "" "likely benign" "" "0000571571" "0" "50" "22" "24709420" "24709420" "subst" "0.00385781" "01943" "SPECC1L-ADORA2A_000002" "g.24709420C>T" "" "" "" "SPECC1L(NM_001145468.2):c.293C>T (p.(Ser98Phe)), SPECC1L(NM_015330.4):c.293C>T (p.S98F), SPECC1L(NM_015330.6):c.293C>T (p.S98F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24313452C>T" "" "VUS" "" "0000571572" "0" "30" "22" "24709420" "24709420" "subst" "0.00385781" "01804" "SPECC1L-ADORA2A_000002" "g.24709420C>T" "" "" "" "SPECC1L(NM_001145468.2):c.293C>T (p.(Ser98Phe)), SPECC1L(NM_015330.4):c.293C>T (p.S98F), SPECC1L(NM_015330.6):c.293C>T (p.S98F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24313452C>T" "" "likely benign" "" "0000571573" "0" "10" "22" "24709420" "24709420" "subst" "0.00385781" "02325" "SPECC1L-ADORA2A_000002" "g.24709420C>T" "" "" "" "SPECC1L(NM_001145468.2):c.293C>T (p.(Ser98Phe)), SPECC1L(NM_015330.4):c.293C>T (p.S98F), SPECC1L(NM_015330.6):c.293C>T (p.S98F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24313452C>T" "" "benign" "" "0000571574" "0" "30" "22" "24717510" "24717510" "subst" "0.00778883" "01804" "SPECC1L-ADORA2A_000003" "g.24717510C>T" "" "" "" "SPECC1L(NM_001145468.2):c.562C>T (p.(Leu188Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24321542C>T" "" "likely benign" "" "0000571575" "0" "30" "22" "24717637" "24717637" "subst" "0.00215631" "01804" "SPECC1L-ADORA2A_000004" "g.24717637C>T" "" "" "" "SPECC1L(NM_001145468.2):c.689C>T (p.(Thr230Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24321669C>T" "" "likely benign" "" "0000571576" "0" "30" "22" "24718060" "24718060" "subst" "1.22047E-5" "01804" "SPECC1L-ADORA2A_000005" "g.24718060C>T" "" "" "" "SPECC1L(NM_001145468.2):c.1112C>T (p.(Ser371Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24322092C>T" "" "likely benign" "" "0000571577" "0" "50" "22" "24718797" "24718797" "subst" "0" "01804" "SPECC1L-ADORA2A_000006" "g.24718797G>C" "" "" "" "SPECC1L(NM_001145468.2):c.1849G>C (p.(Glu617Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24322829G>C" "" "VUS" "" "0000571578" "0" "30" "22" "24720252" "24720252" "subst" "0.000430985" "01804" "SPECC1L-ADORA2A_000007" "g.24720252C>T" "" "" "" "SPECC1L(NM_001145468.2):c.2003C>T (p.(Thr668Met)), SPECC1L(NM_015330.6):c.2003C>T (p.T668M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24324284C>T" "" "likely benign" "" "0000571579" "0" "30" "22" "24743075" "24743075" "subst" "0.000402128" "01804" "SPECC1L-ADORA2A_000008" "g.24743075A>G" "" "" "" "SPECC1L(NM_001145468.2):c.2674A>G (p.(Ile892Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24347107A>G" "" "likely benign" "" "0000571580" "0" "30" "22" "24761498" "24761498" "subst" "0.00232314" "01804" "SPECC1L-ADORA2A_000009" "g.24761498C>T" "" "" "" "SPECC1L(NM_001145468.2):c.2882C>T (p.(Ala961Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24365530C>T" "" "likely benign" "" "0000571581" "0" "30" "22" "24765252" "24765252" "subst" "0" "01943" "SPECC1L-ADORA2A_000010" "g.24765252G>A" "" "" "" "SPECC1L(NM_015330.4):c.3051G>A (p.L1017=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24369284G>A" "" "likely benign" "" "0000650930" "1" "30" "22" "24717510" "24717510" "subst" "0.00778883" "03575" "SPECC1L-ADORA2A_000003" "g.24717510C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs56168869}" "Germline" "" "rs56168869" "0" "" "" "g.24321542C>T" "" "likely benign" "" "0000658906" "0" "70" "22" "24808663" "24808663" "subst" "0" "02327" "SPECC1L-ADORA2A_000011" "g.24808663C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24412695C>G" "" "likely pathogenic" "" "0000681809" "0" "70" "22" "24718182" "24718182" "subst" "0" "02327" "SPECC1L_000013" "g.24718182G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000728059" "0" "10" "22" "24717518" "24717518" "subst" "0.245057" "01943" "SPECC1L_000008" "g.24717518G>A" "" "" "" "SPECC1L(NM_015330.4):c.570G>A (p.T190=), SPECC1L(NM_015330.6):c.570G>A (p.T190=), SPECC1L-ADORA2A(NR_103546.1):n.878G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000728060" "0" "50" "22" "24765218" "24765218" "subst" "0" "01943" "SPECC1L_000014" "g.24765218C>T" "" "" "" "SPECC1L(NM_015330.4):c.3017C>T (p.A1006V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809513" "0" "50" "22" "24720252" "24720252" "subst" "0.000430985" "02325" "SPECC1L-ADORA2A_000007" "g.24720252C>T" "" "" "" "SPECC1L(NM_001145468.2):c.2003C>T (p.(Thr668Met)), SPECC1L(NM_015330.6):c.2003C>T (p.T668M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856076" "0" "30" "22" "24717444" "24717444" "subst" "0.000511642" "02325" "SPECC1L_000007" "g.24717444A>G" "" "" "" "SPECC1L(NM_015330.4):c.496A>G (p.M166V), SPECC1L(NM_015330.6):c.496A>G (p.M166V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866745" "0" "30" "22" "24718307" "24718307" "subst" "0.000905665" "01943" "SPECC1L_000015" "g.24718307C>T" "" "" "" "SPECC1L(NM_015330.4):c.1359C>T (p.S453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866746" "0" "10" "22" "24730587" "24730587" "subst" "0.539181" "01943" "SPECC1L_000016" "g.24730587C>T" "" "" "" "SPECC1L(NM_015330.4):c.2560+46C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866747" "0" "10" "22" "24755850" "24755850" "subst" "0" "01943" "SPECC1L_000017" "g.24755850A>G" "" "" "" "SPECC1L(NM_015330.4):c.2744-3379A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866748" "0" "10" "22" "24808435" "24808435" "subst" "0" "01943" "SPECC1L_000018" "g.24808435G>A" "" "" "" "SPECC1L(NM_015330.4):c.3205-181G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866749" "0" "10" "22" "24811667" "24811667" "subst" "0" "01943" "SPECC1L_000019" "g.24811667G>A" "" "" "" "SPECC1L(NM_015330.4):c.*1076G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895616" "0" "30" "22" "24709439" "24709439" "subst" "8.12288E-6" "02325" "SPECC1L_000020" "g.24709439C>T" "" "" "" "SPECC1L(NM_015330.6):c.307+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895617" "0" "30" "22" "24717517" "24717517" "subst" "0.0005117" "02325" "SPECC1L_000004" "g.24717517C>T" "" "" "" "SPECC1L(NM_015330.6):c.569C>T (p.T190M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895618" "0" "30" "22" "24718408" "24718408" "subst" "0.00550553" "02325" "SPECC1L_000021" "g.24718408G>A" "" "" "" "SPECC1L(NM_015330.4):c.1460G>A (p.(Arg487His)), SPECC1L(NM_015330.6):c.1460G>A (p.R487H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895619" "0" "30" "22" "24759286" "24759286" "subst" "3.65482E-5" "02325" "SPECC1L_000022" "g.24759286C>T" "" "" "" "SPECC1L(NM_015330.6):c.2801C>T (p.A934V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915492" "0" "50" "22" "24709287" "24709287" "subst" "0" "02329" "SPECC1L_000023" "g.24709287A>G" "" "" "" "SPECC1L(NM_015330.4):c.160A>G (p.S54G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915493" "0" "50" "22" "24718729" "24718729" "subst" "0" "02325" "SPECC1L_000024" "g.24718729A>G" "" "" "" "SPECC1L(NM_015330.6):c.1781A>G (p.Y594C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000945921" "0" "50" "22" "24807655" "24807655" "subst" "0" "03779" "SPECC1L_000025" "g.24807655C>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000957537" "0" "70" "22" "24718188" "24718188" "subst" "0" "04614" "SPECC1L_000026" "g.24718188C>T" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.24322220C>T" "" "likely pathogenic (dominant)" "ACMG" "0001005954" "0" "10" "22" "24718408" "24718408" "subst" "0.00550553" "01804" "SPECC1L_000021" "g.24718408G>A" "" "" "" "SPECC1L(NM_015330.4):c.1460G>A (p.(Arg487His)), SPECC1L(NM_015330.6):c.1460G>A (p.R487H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" ## 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 SPECC1L ## Count = 45 "{{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}}" "0000053176" "00020161" "90" "1189" "0" "1189" "0" "c.1189A>C" "r.(?)" "p.(Thr397Pro)" "5" "0000053177" "00020161" "90" "3247" "0" "3247" "0" "c.3247G>A" "r.(?)" "p.(Gly1083Ser)" "16" "0000053178" "00020161" "90" "1244" "0" "1244" "0" "c.1244A>C" "r.(?)" "p.(Gln415Pro)" "5" "0000053179" "00020161" "30" "569" "0" "569" "0" "c.569C>T" "r.(?)" "p.(Thr190Met)" "5" "0000055806" "00020161" "90" "0" "" "0" "" "c.(3088-15497_3088-9538)::?" "r.0" "p.0" "14i" "0000058543" "00020161" "90" "308" "-1" "308" "-1" "c.308-1G>A" "r.spl" "p.?" "4i" "0000248747" "00020161" "10" "902" "0" "902" "0" "c.902A>G" "r.(?)" "p.(Asp301Gly)" "" "0000251916" "00020161" "30" "496" "0" "496" "0" "c.496A>G" "r.(?)" "p.(Met166Val)" "" "0000298450" "00020161" "10" "2851" "0" "2851" "0" "c.2851=" "r.(=)" "p.(Met951=)" "" "0000298453" "00020161" "10" "570" "0" "570" "0" "c.570G>A" "r.(?)" "p.(Thr190=)" "" "0000299681" "00020161" "70" "1240" "0" "1240" "0" "c.1240C>A" "r.(?)" "p.(Leu414Ile)" "" "0000343758" "00020161" "70" "1303" "0" "1303" "0" "c.1303A>G" "r.(?)" "p.(Asn435Asp)" "" "0000571570" "00020161" "30" "200" "0" "200" "0" "c.200C>T" "r.(?)" "p.(Thr67Met)" "" "0000571571" "00020161" "50" "293" "0" "293" "0" "c.293C>T" "r.(?)" "p.(Ser98Phe)" "" "0000571572" "00020161" "30" "293" "0" "293" "0" "c.293C>T" "r.(?)" "p.(Ser98Phe)" "" "0000571573" "00020161" "10" "293" "0" "293" "0" "c.293C>T" "r.(?)" "p.(Ser98Phe)" "" "0000571574" "00020161" "30" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Leu188Phe)" "" "0000571575" "00020161" "30" "689" "0" "689" "0" "c.689C>T" "r.(?)" "p.(Thr230Ile)" "" "0000571576" "00020161" "30" "1112" "0" "1112" "0" "c.1112C>T" "r.(?)" "p.(Ser371Leu)" "" "0000571577" "00020161" "50" "1849" "0" "1849" "0" "c.1849G>C" "r.(?)" "p.(Glu617Gln)" "" "0000571578" "00020161" "30" "2003" "0" "2003" "0" "c.2003C>T" "r.(?)" "p.(Thr668Met)" "" "0000571579" "00020161" "30" "2674" "0" "2674" "0" "c.2674A>G" "r.(?)" "p.(Ile892Val)" "" "0000571580" "00020161" "30" "2882" "0" "2882" "0" "c.2882C>T" "r.(?)" "p.(Ala961Val)" "" "0000571581" "00020161" "30" "3051" "0" "3051" "0" "c.3051G>A" "r.(?)" "p.(Leu1017=)" "" "0000650930" "00020161" "30" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Leu188Phe)" "" "0000658906" "00020161" "70" "3252" "0" "3252" "0" "c.3252C>G" "r.(?)" "p.(Ile1084Met)" "" "0000681809" "00020161" "70" "1234" "0" "1234" "0" "c.1234G>C" "r.(?)" "p.(Glu412Gln)" "" "0000728059" "00020161" "10" "570" "0" "570" "0" "c.570G>A" "r.(?)" "p.(Thr190=)" "" "0000728060" "00020161" "50" "3017" "0" "3017" "0" "c.3017C>T" "r.(?)" "p.(Ala1006Val)" "" "0000809513" "00020161" "50" "2003" "0" "2003" "0" "c.2003C>T" "r.(?)" "p.(Thr668Met)" "" "0000856076" "00020161" "30" "496" "0" "496" "0" "c.496A>G" "r.(?)" "p.(Met166Val)" "" "0000866745" "00020161" "30" "1359" "0" "1359" "0" "c.1359C>T" "r.(?)" "p.(Ser453=)" "" "0000866746" "00020161" "10" "2560" "46" "2560" "46" "c.2560+46C>T" "r.(=)" "p.(=)" "" "0000866747" "00020161" "10" "2744" "-3379" "2744" "-3379" "c.2744-3379A>G" "r.(=)" "p.(=)" "" "0000866748" "00020161" "10" "3205" "-181" "3205" "-181" "c.3205-181G>A" "r.(=)" "p.(=)" "" "0000866749" "00020161" "10" "4430" "0" "4430" "0" "c.*1076G>A" "r.(=)" "p.(=)" "" "0000895616" "00020161" "30" "307" "5" "307" "5" "c.307+5C>T" "r.spl?" "p.?" "" "0000895617" "00020161" "30" "569" "0" "569" "0" "c.569C>T" "r.(?)" "p.(Thr190Met)" "" "0000895618" "00020161" "30" "1460" "0" "1460" "0" "c.1460G>A" "r.(?)" "p.(Arg487His)" "" "0000895619" "00020161" "30" "2801" "0" "2801" "0" "c.2801C>T" "r.(?)" "p.(Ala934Val)" "" "0000915492" "00020161" "50" "160" "0" "160" "0" "c.160A>G" "r.(?)" "p.(Ser54Gly)" "" "0000915493" "00020161" "50" "1781" "0" "1781" "0" "c.1781A>G" "r.(?)" "p.(Tyr594Cys)" "" "0000945921" "00020161" "50" "3187" "0" "3187" "0" "c.3187C>A" "r.(?)" "p.(Leu1063Met)" "" "0000957537" "00020161" "70" "1240" "0" "1240" "0" "c.1240C>T" "r.(?)" "p.(Leu414Phe)" "5" "0001005954" "00020161" "10" "1460" "0" "1460" "0" "c.1460G>A" "r.(?)" "p.(Arg487His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000029759" "0000053176" "0000029760" "0000053177" "0000029761" "0000053178" "0000029762" "0000053179" "0000029765" "0000055806" "0000032415" "0000058543" "0000294241" "0000650930" "0000448144" "0000957537"