### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = C19orf44) # 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}}" "C19orf44" "chromosome 19 open reading frame 44" "19" "p13.11" "unknown" "NC_000019.9" "UD_132462912510" "" "https://www.LOVD.nl/C19orf44" "" "1" "26141" "84167" "0" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-08-01 12:24:35" "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}}" "00004141" "C19orf44" "chromosome 19 open reading frame 44" "001" "NM_032207.2" "" "NP_115583.1" "" "" "" "-73" "3273" "1974" "16607205" "16632163" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00381" "RD" "dystrophy, retinal (RD)" "" "" "" "" "" "00006" "2014-05-09 11:59:52" "00006" "2015-12-07 07:11:25" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "C19orf44" "00381" ## 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}}" "00452915" "" "" "" "1" "" "04333" "{PMID:Ehrenberg 2025:40079362}" "3-generation family, 1 affected, unaffected parents" "M" "yes" "Israel" "" "0" "" "" "Yemenite Jewish" "TB752" "00452916" "" "" "" "1" "" "04333" "{PMID:Ehrenberg 2025:40079362}" "2-generation family, 1 affected, unaffected parents" "M" "no" "Israel" "" "0" "" "" "Yemenite Jewish" "TB1002" "00452917" "" "" "" "1" "" "04333" "{PMID:Ehrenberg 2025:40079362}" "2-generation family, 1 affected, unaffected parents" "M" "no" "Israel" "" "0" "" "" "Ashkenazi Jewish" "TB777" "00452918" "" "" "" "1" "" "04333" "{PMID:Ehrenberg 2025:40079362}" "3-generation family, 1 affected, unaffected parents" "M" "yes" "Israel" "" "0" "" "" "Ashkenazi Jewish" "MOL311" "00452919" "" "" "" "1" "" "04333" "{PMID:Ehrenberg 2025:40079362}" "2-generation family, 1 affected, unaffected parents" "F" "no" "Israel" "" "0" "" "" "Yemenite Jewish" "MOL2388" "00452920" "" "" "" "3" "" "04333" "{PMID:Ehrenberg 2025:40079362}" "2-generation family, 3 affected sisters, unaffected parents" "F" "no" "Israel" "" "0" "" "" "Yemenite Jewish" "TB1441-1" "00452921" "" "" "" "1" "" "04333" "{PMID:Ehrenberg 2025:40079362}" "2-generation family, 1 affected, unaffected parents" "M" "no" "Israel" "" "0" "" "" "Yemenite Jewish" "TB1334" "00452922" "" "" "" "1" "" "04333" "{PMID:Ehrenberg 2025:40079362}" "2-generation family, 1 affected, unaffected parents" "M" "yes" "Iran" "" "0" "" "" "" "GC22684" "00452923" "" "" "" "1" "" "04333" "{PMID:Ehrenberg 2025:40079362}" "2-generation family, 1 affected, unaffected parents" "F" "no" "Iraq" "" "0" "" "" "Kurdish" "GC32213" "00452924" "" "" "" "1" "" "04333" "{PMID:Ehrenberg 2025:40079362}" "2-generation family, 1 affected, unaffected parents" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "GC20987" "00464580" "" "" "" "3" "" "00006" "{PMID:Ehrenberg 2025:40079362}" "2-generation family, 3 affected (2f, M), unaffected parents" "F;M" "" "United States" "" "0" "" "" "jew-Ashkenazi" "OGI838" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00452915" "00381" "00452916" "00381" "00452917" "00381" "00452918" "00381" "00452919" "00381" "00452920" "00381" "00452921" "00381" "00452922" "00381" "00452923" "00381" "00452924" "00381" "00464580" "00381" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00381 ## Count = 0 ## 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}}" "0000454519" "00452915" "1" "04333" "04333" "2024-07-31 10:20:44" "" "" "SEQ-NG" "DNA" "" "WES" "0000454520" "00452916" "1" "04333" "04333" "2024-07-31 10:30:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000454521" "00452917" "1" "04333" "04333" "2024-07-31 10:34:26" "" "" "SEQ-NG" "DNA" "" "WES" "0000454522" "00452918" "1" "04333" "04333" "2024-07-31 10:37:44" "" "" "SEQ-NG" "DNA" "" "WES" "0000454523" "00452919" "1" "04333" "04333" "2024-07-31 10:41:54" "" "" "SEQ-NG" "DNA" "" "WES" "0000454524" "00452920" "1" "04333" "04333" "2024-07-31 10:45:41" "" "" "SEQ-NG" "DNA" "WES" "" "0000454525" "00452921" "1" "04333" "04333" "2024-07-31 10:50:41" "" "" "SEQ" "DNA" "" "" "0000454526" "00452922" "1" "04333" "04333" "2024-07-31 10:53:58" "" "" "SEQ-NG" "DNA" "" "WGS" "0000454527" "00452923" "1" "04333" "04333" "2024-07-31 10:57:27" "" "" "SEQ-NG" "DNA" "" "WGS" "0000454528" "00452924" "1" "04333" "04333" "2024-07-31 11:02:18" "" "" "SEQ-NG" "DNA" "" "WGS" "0000466221" "00464580" "1" "00006" "00006" "2025-03-31 11:43:27" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000454525" "C19orf44" ## 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 = 47 "{{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}}" "0000247574" "0" "10" "19" "16606659" "16606659" "subst" "0.000198969" "02330" "CALR3_000057" "g.16606659A>G" "" "" "" "CALR3(NM_145046.4):c.96T>C (p.H32=), CALR3(NM_145046.5):c.96T>C (p.H32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16495848A>G" "" "benign" "" "0000247598" "0" "10" "19" "16606683" "16606683" "subst" "0" "02330" "CALR3_000042" "g.16606683A>G" "" "" "" "CALR3(NM_145046.5):c.92-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16495872A>G" "" "benign" "" "0000247599" "0" "10" "19" "16606951" "16606951" "subst" "0" "02330" "CALR3_000047" "g.16606951A>C" "" "" "" "CALR3(NM_145046.5):c.-11T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16496140A>C" "" "benign" "" "0000264255" "0" "10" "19" "16606881" "16606881" "subst" "0.000410609" "02330" "CALR3_000044" "g.16606881G>C" "" "" "" "CALR3(NM_145046.4):c.60C>G (p.T20=), CALR3(NM_145046.5):c.60C>G (p.T20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16496070G>C" "" "benign" "" "0000264263" "0" "10" "19" "16606674" "16606674" "subst" "0" "02330" "CALR3_000041" "g.16606674G>A" "" "" "" "CALR3(NM_145046.5):c.92-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16495863G>A" "" "benign" "" "0000266461" "0" "50" "19" "16606611" "16606611" "dup" "0" "02325" "CALR3_000040" "g.16606611dup" "" "" "" "CALR3(NM_145046.5):c.143delAinsAT (p.R50*), CALR3(NM_145046.5):c.147dupT (p.R50*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16495800dup" "" "VUS" "" "0000266465" "0" "50" "19" "16606910" "16606910" "subst" "0" "02325" "CALR3_000045" "g.16606910T>G" "" "" "" "CALR3(NM_145046.5):c.31A>C (p.I11L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16496099T>G" "" "VUS" "" "0000266469" "0" "30" "19" "16606881" "16606881" "subst" "0.000410609" "02325" "CALR3_000044" "g.16606881G>C" "" "" "" "CALR3(NM_145046.4):c.60C>G (p.T20=), CALR3(NM_145046.5):c.60C>G (p.T20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16496070G>C" "" "likely benign" "" "0000269700" "0" "30" "19" "16606881" "16606881" "subst" "0.000410609" "02326" "CALR3_000044" "g.16606881G>C" "" "" "" "CALR3(NM_145046.4):c.60C>G (p.T20=), CALR3(NM_145046.5):c.60C>G (p.T20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16496070G>C" "" "likely benign" "" "0000272554" "0" "50" "19" "16606954" "16606954" "subst" "5.12857E-6" "01943" "CALR3_000048" "g.16606954G>A" "" "" "" "CALR3(NM_145046.4):c.-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16496143G>A" "" "VUS" "" "0000272556" "0" "30" "19" "16606596" "16606596" "subst" "8.1211E-6" "01943" "CALR3_000037" "g.16606596C>T" "" "" "" "CALR3(NM_145046.4):c.159G>A (p.S53=), CALR3(NM_145046.5):c.159G>A (p.S53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16495785C>T" "" "likely benign" "" "0000272557" "0" "10" "19" "16606545" "16606545" "subst" "1.62508E-5" "01943" "CALR3_000036" "g.16606545C>T" "" "" "" "CALR3(NM_145046.4):c.193+17G>A, CALR3(NM_145046.5):c.193+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16495734C>T" "" "benign" "" "0000272559" "0" "30" "19" "16606910" "16606910" "subst" "1.72582E-5" "01943" "CALR3_000046" "g.16606910T>C" "" "" "" "CALR3(NM_145046.4):c.31A>G (p.I11V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16496099T>C" "" "likely benign" "" "0000272567" "0" "30" "19" "16606881" "16606881" "subst" "0.000410609" "01943" "CALR3_000044" "g.16606881G>C" "" "" "" "CALR3(NM_145046.4):c.60C>G (p.T20=), CALR3(NM_145046.5):c.60C>G (p.T20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16496070G>C" "" "likely benign" "" "0000272569" "0" "50" "19" "16606869" "16606869" "subst" "0" "01943" "CALR3_000043" "g.16606869T>C" "" "" "" "CALR3(NM_145046.4):c.72A>G (p.Q24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16496058T>C" "" "VUS" "" "0000566488" "0" "30" "19" "16606592" "16606592" "subst" "3.24844E-5" "02325" "CALR3_000001" "g.16606592T>C" "" "" "" "CALR3(NM_145046.5):c.163A>G (p.K55E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16495781T>C" "" "likely benign" "" "0000566489" "0" "50" "19" "16606603" "16606603" "dup" "0" "02326" "C19orf44_000001" "g.16606603dup" "" "" "" "CALR3(NM_145046.4):c.154dupT (p.S52Ffs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16495792dup" "" "VUS" "" "0000566490" "0" "10" "19" "16606630" "16606630" "subst" "0.000328907" "02330" "C19orf44_000002" "g.16606630T>C" "" "" "" "CALR3(NM_145046.4):c.125A>G (p.N42S), CALR3(NM_145046.5):c.125A>G (p.N42S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16495819T>C" "" "benign" "" "0000566491" "0" "30" "19" "16606630" "16606630" "subst" "0.000328907" "01943" "C19orf44_000002" "g.16606630T>C" "" "" "" "CALR3(NM_145046.4):c.125A>G (p.N42S), CALR3(NM_145046.5):c.125A>G (p.N42S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16495819T>C" "" "likely benign" "" "0000566492" "0" "30" "19" "16606630" "16606630" "subst" "0.000328907" "02327" "C19orf44_000002" "g.16606630T>C" "" "" "" "CALR3(NM_145046.4):c.125A>G (p.N42S), CALR3(NM_145046.5):c.125A>G (p.N42S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16495819T>C" "" "likely benign" "" "0000566493" "0" "30" "19" "16606630" "16606630" "subst" "0.000328907" "02326" "C19orf44_000002" "g.16606630T>C" "" "" "" "CALR3(NM_145046.4):c.125A>G (p.N42S), CALR3(NM_145046.5):c.125A>G (p.N42S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16495819T>C" "" "likely benign" "" "0000566494" "0" "10" "19" "16606821" "16606821" "subst" "0.00215871" "01943" "C19orf44_000003" "g.16606821C>T" "" "" "" "CALR3(NM_145046.4):c.91+29G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16496010C>T" "" "benign" "" "0000617440" "0" "10" "19" "16606545" "16606545" "subst" "1.62508E-5" "02330" "CALR3_000036" "g.16606545C>T" "" "" "" "CALR3(NM_145046.4):c.193+17G>A, CALR3(NM_145046.5):c.193+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16495734C>T" "" "benign" "" "0000617441" "0" "30" "19" "16606881" "16606881" "subst" "0.000410609" "02327" "CALR3_000044" "g.16606881G>C" "" "" "" "CALR3(NM_145046.4):c.60C>G (p.T20=), CALR3(NM_145046.5):c.60C>G (p.T20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16496070G>C" "" "likely benign" "" "0000681325" "0" "30" "19" "16606659" "16606659" "subst" "0.000198969" "01943" "CALR3_000057" "g.16606659A>G" "" "" "" "CALR3(NM_145046.4):c.96T>C (p.H32=), CALR3(NM_145046.5):c.96T>C (p.H32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727192" "0" "30" "19" "16606902" "16606902" "subst" "0" "01943" "C19orf44_000004" "g.16606902C>A" "" "" "" "CALR3(NM_145046.4):c.39G>T (p.M13I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808749" "0" "50" "19" "16606600" "16606600" "subst" "0" "02330" "C19orf44_000005" "g.16606600G>A" "" "" "" "CALR3(NM_145046.5):c.155C>T (p.S52L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915156" "0" "10" "19" "16606596" "16606596" "subst" "8.1211E-6" "02330" "CALR3_000037" "g.16606596C>T" "" "" "" "CALR3(NM_145046.4):c.159G>A (p.S53=), CALR3(NM_145046.5):c.159G>A (p.S53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926836" "0" "10" "19" "16606945" "16606945" "subst" "0" "02330" "C19orf44_000006" "g.16606945G>A" "" "" "" "CALR3(NM_145046.5):c.-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926837" "0" "10" "19" "16606946" "16606946" "subst" "0" "02330" "C19orf44_000007" "g.16606946T>A" "" "" "" "CALR3(NM_145046.5):c.-6A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000951241" "0" "10" "19" "16606833" "16606833" "subst" "0" "02330" "C19orf44_000008" "g.16606833G>T" "" "" "" "CALR3(NM_145046.5):c.91+17C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000989340" "3" "90" "19" "16612152" "16612153" "del" "0" "04333" "C19orf44_000009" "g.16612152_16612153del" "" "{PMID:Ehrenberg 2025:40079362}" "" "" "ACMG PS4, PM4, PP1" "Unknown" "?" "" "0" "" "" "g.16501341_16501342del" "" "likely pathogenic (recessive)" "ACMG" "0000989341" "3" "90" "19" "16612152" "16612153" "del" "0" "04333" "C19orf44_000009" "g.16612152_16612153del" "" "{PMID:Ehrenberg 2025:40079362}" "" "" "ACMG PS4, PM4, PP1" "Unknown" "" "" "0" "" "" "g.16501341_16501342del" "" "likely pathogenic (recessive)" "ACMG" "0000989342" "3" "90" "19" "16612152" "16612153" "del" "0" "04333" "C19orf44_000009" "g.16612152_16612153del" "" "{PMID:Ehrenberg 2025:40079362}" "" "" "ACMG PS4, PM4, PP1" "Unknown" "?" "" "0" "" "" "g.16501341_16501342del" "" "likely pathogenic (recessive)" "ACMG" "0000989343" "3" "90" "19" "16612152" "16612153" "del" "0" "04333" "C19orf44_000009" "g.16612152_16612153del" "" "{PMID:Ehrenberg 2025:40079362}" "" "" "ACMG PS4, PM4, PP1" "Unknown" "" "" "0" "" "" "g.16501341_16501342del" "" "likely pathogenic (recessive)" "ACMG" "0000989344" "3" "90" "19" "16612152" "16612153" "del" "0" "04333" "C19orf44_000009" "g.16612152_16612153del" "" "{PMID:Ehrenberg 2025:40079362}" "" "" "ACMG PS4, PM4, PP1" "Unknown" "?" "" "0" "" "" "g.16501341_16501342del" "" "likely pathogenic (recessive)" "ACMG" "0000989345" "3" "90" "19" "16612152" "16612153" "del" "0" "04333" "C19orf44_000009" "g.16612152_16612153del" "" "{PMID:Ehrenberg 2025:40079362}" "" "" "ACMG PS4, PM4, PP1" "Germline" "yes" "" "0" "" "" "g.16501341_16501342del" "" "likely pathogenic (recessive)" "ACMG" "0000989346" "0" "90" "19" "16612152" "16612153" "del" "0" "04333" "C19orf44_000009" "g.16612152_16612153del" "" "{PMID:Ehrenberg 2025:40079362}" "" "" "ACMG PS4, PM4, PP1" "Unknown" "" "" "0" "" "" "g.16501341_16501342del" "" "likely pathogenic (recessive)" "ACMG" "0000989347" "3" "90" "19" "16612152" "16612153" "del" "0" "04333" "C19orf44_000009" "g.16612152_16612153del" "" "{PMID:Ehrenberg 2025:40079362}" "" "" "ACMG PS4, PM4, PP1" "Unknown" "?" "" "0" "" "" "g.16501341_16501342del" "" "likely pathogenic (recessive)" "ACMG" "0000989348" "1" "90" "19" "16612152" "16612153" "del" "0" "04333" "C19orf44_000009" "g.16612152_16612153del" "" "{PMID:Ehrenberg 2025:40079362}" "" "" "ACMG PS4, PM4, PP1" "Germline" "" "" "0" "" "" "g.16501341_16501342del" "" "likely pathogenic (recessive)" "ACMG" "0000989349" "2" "70" "19" "16611868" "16611868" "subst" "6.92464E-5" "04333" "C19orf44_000010" "g.16611868C>T" "" "{PMID:Ehrenberg 2025:40079362}" "" "" "ACMG PS4, PM4" "Germline/De novo (untested)" "" "" "0" "" "" "g.16501057C>T" "" "likely pathogenic (recessive)" "ACMG" "0000989350" "1" "90" "19" "16611961" "16611968" "del" "0" "04333" "C19orf44_000012" "g.16611961_16611968del" "" "{PMID:Ehrenberg 2025:40079362}" "" "" "ACMG PS4, PM4" "Germline/De novo (untested)" "" "" "0" "" "" "g.16501150_16501157del" "" "likely pathogenic (recessive)" "ACMG" "0000989351" "2" "90" "19" "16614085" "16614086" "del" "5.68486E-5" "04333" "C19orf44_000011" "g.16614085_16614086del" "" "{PMID:Ehrenberg 2025:40079362}" "" "" "ACMG PS4, PM4" "Germline/De novo (untested)" "" "" "0" "" "" "g.16503274_16503275del" "" "likely pathogenic (recessive)" "ACMG" "0001027189" "0" "50" "19" "16606910" "16606910" "subst" "0" "02330" "CALR3_000045" "g.16606910T>G" "" "" "" "CALR3(NM_145046.5):c.31A>C (p.I11L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030122" "3" "90" "19" "16612152" "16612153" "del" "0" "00006" "C19orf44_000009" "g.16612152_16612153del" "" "{PMID:Ehrenberg 2025:40079362}" "" "" "ACMG PS4, PM4, PP1" "Germline" "" "" "0" "" "" "g.16501341_16501342del" "" "likely pathogenic (recessive)" "ACMG" "0001042744" "0" "10" "19" "16606546" "16606547" "del" "1.21881E-5" "02330" "C19orf44_000013" "g.16606546_16606547del" "" "" "" "CALR3(NM_145046.5):c.193+15_193+16delAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001042745" "0" "50" "19" "16606920" "16606920" "subst" "2.62428E-5" "02330" "CALR3_000059" "g.16606920C>G" "" "" "" "CALR3(NM_145046.5):c.21G>C (p.Q7H)" "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 C19orf44 ## Count = 47 "{{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}}" "0000247574" "00004141" "10" "-619" "0" "-619" "0" "c.-619A>G" "r.(?)" "p.(=)" "" "0000247598" "00004141" "10" "-595" "0" "-595" "0" "c.-595A>G" "r.(?)" "p.(=)" "" "0000247599" "00004141" "10" "-327" "0" "-327" "0" "c.-327A>C" "r.(?)" "p.(=)" "" "0000264255" "00004141" "10" "-397" "0" "-397" "0" "c.-397G>C" "r.(?)" "p.(=)" "" "0000264263" "00004141" "10" "-604" "0" "-604" "0" "c.-604G>A" "r.(?)" "p.(=)" "" "0000266461" "00004141" "50" "-667" "0" "-667" "0" "c.-667dup" "r.(?)" "p.(=)" "" "0000266465" "00004141" "50" "-368" "0" "-368" "0" "c.-368T>G" "r.(?)" "p.(=)" "" "0000266469" "00004141" "30" "-397" "0" "-397" "0" "c.-397G>C" "r.(?)" "p.(=)" "" "0000269700" "00004141" "30" "-397" "0" "-397" "0" "c.-397G>C" "r.(?)" "p.(=)" "" "0000272554" "00004141" "50" "-324" "0" "-324" "0" "c.-324G>A" "r.(?)" "p.(=)" "" "0000272556" "00004141" "30" "-682" "0" "-682" "0" "c.-682C>T" "r.(?)" "p.(=)" "" "0000272557" "00004141" "10" "-733" "0" "-733" "0" "c.-733C>T" "r.(?)" "p.(=)" "" "0000272559" "00004141" "30" "-368" "0" "-368" "0" "c.-368T>C" "r.(?)" "p.(=)" "" "0000272567" "00004141" "30" "-397" "0" "-397" "0" "c.-397G>C" "r.(?)" "p.(=)" "" "0000272569" "00004141" "50" "-409" "0" "-409" "0" "c.-409T>C" "r.(?)" "p.(=)" "" "0000566488" "00004141" "30" "-686" "0" "-686" "0" "c.-686T>C" "r.(?)" "p.(=)" "" "0000566489" "00004141" "50" "-675" "0" "-675" "0" "c.-675dup" "r.(?)" "p.(=)" "" "0000566490" "00004141" "10" "-648" "0" "-648" "0" "c.-648T>C" "r.(?)" "p.(=)" "" "0000566491" "00004141" "30" "-648" "0" "-648" "0" "c.-648T>C" "r.(?)" "p.(=)" "" "0000566492" "00004141" "30" "-648" "0" "-648" "0" "c.-648T>C" "r.(?)" "p.(=)" "" "0000566493" "00004141" "30" "-648" "0" "-648" "0" "c.-648T>C" "r.(?)" "p.(=)" "" "0000566494" "00004141" "10" "-457" "0" "-457" "0" "c.-457C>T" "r.(?)" "p.(=)" "" "0000617440" "00004141" "10" "-733" "0" "-733" "0" "c.-733C>T" "r.(?)" "p.(=)" "" "0000617441" "00004141" "30" "-397" "0" "-397" "0" "c.-397G>C" "r.(?)" "p.(=)" "" "0000681325" "00004141" "30" "-619" "0" "-619" "0" "c.-619A>G" "r.(?)" "p.(=)" "" "0000727192" "00004141" "30" "-376" "0" "-376" "0" "c.-376C>A" "r.(?)" "p.(=)" "" "0000808749" "00004141" "50" "-678" "0" "-678" "0" "c.-678G>A" "r.(?)" "p.(=)" "" "0000915156" "00004141" "10" "-682" "0" "-682" "0" "c.-682C>T" "r.(?)" "p.(=)" "" "0000926836" "00004141" "10" "-333" "0" "-333" "0" "c.-333G>A" "r.(?)" "p.(=)" "" "0000926837" "00004141" "10" "-332" "0" "-332" "0" "c.-332T>A" "r.(?)" "p.(=)" "" "0000951241" "00004141" "10" "-445" "0" "-445" "0" "c.-445G>T" "r.(?)" "p.(=)" "" "0000989340" "00004141" "90" "549" "0" "550" "0" "c.549_550del" "r.(?)" "p.(Ser185Profs*2)" "2" "0000989341" "00004141" "90" "549" "0" "550" "0" "c.549_550del" "r.(?)" "p.(Ser185Profs*2)" "2" "0000989342" "00004141" "90" "549" "0" "550" "0" "c.549_550del" "r.(?)" "p.(Ser185Profs*2)" "2" "0000989343" "00004141" "90" "549" "0" "550" "0" "c.549_550del" "r.(?)" "p.(Ser185Profs*2)" "2" "0000989344" "00004141" "90" "549" "0" "550" "0" "c.549_550del" "r.(?)" "p.(Ser185Profs*2)" "2" "0000989345" "00004141" "90" "549" "0" "550" "0" "c.549_550del" "r.(?)" "p.(Ser185Profs*2)" "2" "0000989346" "00004141" "90" "549" "0" "550" "0" "c.549_550del" "r.(?)" "p.(Ser185Profs*2)" "2" "0000989347" "00004141" "90" "549" "0" "550" "0" "c.549_550del" "r.(?)" "p.(Ser185Profs*2)" "2" "0000989348" "00004141" "90" "549" "0" "550" "0" "c.549_550del" "r.(?)" "p.(Ser185Profs*2)" "2" "0000989349" "00004141" "70" "265" "0" "265" "0" "c.265C>T" "r.(?)" "p.(Arg89*)" "2" "0000989350" "00004141" "90" "358" "0" "365" "0" "c.358_365del" "r.(?)" "p.(Ser120Argfs*10)" "2" "0000989351" "00004141" "90" "969" "0" "970" "0" "c.969_970del" "r.(?)" "p.(Ser325Phefs*16)" "3" "0001027189" "00004141" "50" "-368" "0" "-368" "0" "c.-368T>G" "r.(?)" "p.(=)" "" "0001030122" "00004141" "90" "549" "0" "550" "0" "c.549_550del" "r.(?)" "p.(Ser185Profs*2)" "" "0001042744" "00004141" "10" "-732" "0" "-731" "0" "c.-732_-731del" "r.(?)" "p.(=)" "" "0001042745" "00004141" "50" "-358" "0" "-358" "0" "c.-358C>G" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000454519" "0000989340" "0000454520" "0000989341" "0000454521" "0000989342" "0000454522" "0000989343" "0000454523" "0000989344" "0000454524" "0000989345" "0000454525" "0000989346" "0000454526" "0000989347" "0000454527" "0000989348" "0000454527" "0000989349" "0000454528" "0000989350" "0000454528" "0000989351" "0000466221" "0001030122"