### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC25A42) # 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}}" "SLC25A42" "solute carrier family 25, member 42" "19" "p13.11" "unknown" "NC_000019.9" "UD_136065758629" "" "https://www.LOVD.nl/SLC25A42" "" "1" "28380" "284439" "610823" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SLC25A42_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-02-04 14:46:17" "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}}" "00019224" "SLC25A42" "solute carrier family 25, member 42" "001" "NM_178526.4" "" "NP_848621.2" "" "" "" "-156" "3111" "957" "19174803" "19223839" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "06442" "MECREN" "Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression" "AR" "618416" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SLC25A42" "06442" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{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}}" "00301728" "" "" "" "1" "" "00006" "{PMID:Maddirevula 2019:30237576}" "" "F" "" "" "" "0" "" "" "" "17-2246" "00431219" "" "" "" "1" "" "00006" "{PMID:Shamseldin 2016:26541337}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives, recurrent miscarriages in family" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "FamPatIII6" "00431220" "" "" "" "1" "" "00006" "{PMID:Almannai 2018:29327420}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam1Pat1" "00431221" "" "" "" "1" "" "00006" "{PMID:Almannai 2018:29327420}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam2Pat2" "00431222" "" "" "" "1" "" "00006" "{PMID:Almannai 2018:29327420}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam3Pat3" "00431223" "" "" "" "4" "" "00006" "{PMID:Almannai 2018:29327420}" "2-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam4Pat4" "00431224" "" "" "00431223" "1" "" "00006" "{PMID:Almannai 2018:29327420}" "brother" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam4Pat5" "00431225" "" "" "00431223" "1" "" "00006" "{PMID:Almannai 2018:29327420}" "sister" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam4Pat6" "00431226" "" "" "00431223" "1" "" "00006" "{PMID:Almannai 2018:29327420}" "brother" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam4Pat7" "00431227" "" "" "" "1" "" "00006" "{PMID:Almannai 2018:29327420}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam5Pat8" "00431228" "" "" "" "2" "" "00006" "{PMID:Almannai 2018:29327420}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam6Pat9" "00431229" "" "" "00431228" "1" "" "00006" "{PMID:Almannai 2018:29327420}" "sister" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam6Pat10" "00431230" "" "" "" "1" "" "00006" "{PMID:Almannai 2018:29327420}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam7Pat11" "00431231" "" "" "" "1" "" "00006" "{PMID:Almannai 2018:29327420}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam8Pat12" "00431232" "" "" "" "1" "" "00006" "{PMID:Isuo 2019:29923093}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Pat1" "00431233" "" "" "" "1" "" "00006" "{PMID:Isuo 2019:29923093}, {PMID:Yepez 2022:35379322}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Germany" "" "0" "" "" "" "Pat2;R63087" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00301728" "00198" "00431219" "00244" "00431220" "00244" "00431221" "00244" "00431222" "00244" "00431223" "00244" "00431224" "00244" "00431225" "00244" "00431226" "00244" "00431227" "00244" "00431228" "00244" "00431229" "00244" "00431230" "00244" "00431231" "00244" "00431232" "00344" "00431233" "00344" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 00344, 06442 ## Count = 16 "{{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}}" "0000228826" "00198" "00301728" "00006" "Familial, autosomal recessive" "15y" "recurrent episodes of ketosis, and lactic acidosis usually triggered by intercurrent illness. There was no history of hyperammonemia or hypoglycemia. The frequency of the metabolic attacks is lessening with age. Urine organic acid analysis and acylcarnitine analysis were normal. Parents are consanguineous." "" "" "" "" "" "" "" "" "" "" "" "0000321824" "00244" "00431219" "00006" "Familial, autosomal recessive" "16y" "see paper; ..., myopathy, lactic acidosis, muscle changes; motor delays; 24m-sit; 3y-walk; frequent muscle aches after muscle use, no history of urine discoloration; mild scoliosis; non-progressive myopia" "" "" "" "" "" "" "" "" "MECREN" "myopathy" "" "0000321825" "00244" "00431220" "00006" "Familial, autosomal recessive" "17m" "developmental regression; developmental delay/intellectual disability; no seizures; choreoathetosis; MRI brain bilateral symmetrical hyperintensities involving basal ganglia; hyperammonemia 205 umol/L; ECG poor left ventricular systolic function" "14m" "" "" "" "" "" "" "" "MECREN" "encephalomyopathy" "" "0000321826" "00244" "00431221" "00006" "Familial, autosomal recessive" "13y6m" "developmental regression; developmental delay/intellectual disability; seizures; no movement disorder, occasional facial grimacing; MRI brain bilateral symmetrical atrophy and high-signal intensity involving posterior and lateral putamen, exaggerated iron deposition at the bilateral globus pallidus and substantia nigra; no hyperammonemia; ECG normal" "10m" "" "" "" "" "" "" "" "MECREN" "encephalomyopathy" "" "0000321827" "00244" "00431222" "00006" "Familial, autosomal recessive" "3y" "no developmental regression; no developmental delay/intellectual disability; no seizures; no movement disorder; no hyperammonemia" "18m" "" "" "" "" "" "" "" "MECREN" "encephalomyopathy" "" "0000321828" "00244" "00431223" "00006" "Familial, autosomal recessive" "22y" "no developmental regression; no developmental delay/intellectual disability; no seizures; chorioathetosis, dystonia; MRI brain normal; no hyperammonemia; ECG dilated left ventricle, reduced left ventricular ejection fraction" "10y" "" "" "" "" "" "" "" "MECREN" "encephalomyopathy" "" "0000321829" "00244" "00431224" "00006" "Familial, autosomal recessive" "9y" "no developmental regression; no developmental delay/intellectual disability; no seizures; no movement disorder; no hyperammonemia" "1y" "" "" "" "" "" "" "" "MECREN" "encephalomyopathy" "" "0000321830" "00244" "00431225" "00006" "Familial, autosomal recessive" "24y" "no developmental regression; no developmental delay/intellectual disability; no seizures; no movement disorder; no hyperammonemia" "" "" "" "" "" "" "" "" "MECREN" "encephalomyopathy" "" "0000321831" "00244" "00431226" "00006" "Familial, autosomal recessive" "4y" "no developmental regression; no developmental delay/intellectual disability; no seizures; no movement disorder; MRI brain normal; no hyperammonemia" "3m" "" "" "" "" "" "" "" "MECREN" "encephalomyopathy" "" "0000321832" "00244" "00431227" "00006" "Familial, autosomal recessive" "9y" "no developmental regression; mild developmental delay/intellectual disability; no seizures; ataxia; MRI brain bilateral, symmetrical T2 hyperintensity and atrophy posterior and lateral putamen; no hyperammonemia; ECG normal" "18m" "" "" "" "" "" "" "" "MECREN" "encephalomyopathy" "" "0000321833" "00244" "00431228" "00006" "Familial, autosomal recessive" "3y" "developmental regression; developmental delay/intellectual disability; no seizures; no movement disorder; MRI brain bilateral symmetrical T2 hyperintensity corpus striatum; no hyperammonemia; ECG normal" "6m" "" "" "" "" "" "" "" "MECREN" "encephalomyopathy" "" "0000321834" "00244" "00431229" "00006" "Familial, autosomal recessive" "8y" "developmental regression; developmental delay/intellectual disability; no seizures; dystonia; MRI brain normal; ECG normal" "7m" "" "" "" "" "" "" "" "MECREN" "encephalomyopathy" "" "0000321835" "00244" "00431230" "00006" "Familial, autosomal recessive" "8y" "no developmental regression; developmental delay/intellectual disability; seizures; dystonia; MRI brain bilateral abnormal high-signal intensity, atrophy putamina bilaterally; no hyperammonemia; ECG ventricular septal defect, repaired" "11m" "" "" "" "" "" "" "" "MECREN" "encephalomyopathy" "" "0000321836" "00244" "00431231" "00006" "Familial, autosomal recessive" "3y6m" "no developmental regression; no developmental delay/intellectual disability; no seizures; no movement disorder; hyperammonemia 199 umol/L" "3y6m" "" "" "" "" "" "" "" "MECREN" "encephalomyopathy" "" "0000321837" "00344" "00431232" "00006" "Familial, autosomal recessive" "06y" "see paper" "" "" "" "" "" "" "" "" "" "epileptic encephalopathy" "" "0000321838" "00344" "00431233" "00006" "Familial, autosomal recessive" "09y" "see paper; ..., basal ganglia abnormality MRI, muscle weakness, myopathy, rhabdomyolysis, neurodevelopmental delay, seizures,infection related deterioration, elevated lactate" "" "" "" "" "" "" "" "" "" "epileptic encephalopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000302852" "00301728" "1" "00006" "00006" "2020-05-22 17:20:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000432633" "00431219" "1" "00006" "00006" "2023-02-04 14:55:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432634" "00431220" "1" "00006" "00006" "2023-02-04 16:19:44" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical WES" "0000432635" "00431221" "1" "00006" "00006" "2023-02-04 16:19:44" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical WES" "0000432636" "00431222" "1" "00006" "00006" "2023-02-04 16:19:44" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical WES" "0000432637" "00431223" "1" "00006" "00006" "2023-02-04 16:19:44" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical WES" "0000432638" "00431224" "1" "00006" "00006" "2023-02-04 16:19:44" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical WES" "0000432639" "00431225" "1" "00006" "00006" "2023-02-04 16:19:44" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical WES" "0000432640" "00431226" "1" "00006" "00006" "2023-02-04 16:19:44" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical WES" "0000432641" "00431227" "1" "00006" "00006" "2023-02-04 16:19:44" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical WES" "0000432642" "00431228" "1" "00006" "00006" "2023-02-04 16:19:44" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical WES" "0000432643" "00431229" "1" "00006" "00006" "2023-02-04 16:19:44" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical WES" "0000432644" "00431230" "1" "00006" "00006" "2023-02-04 16:19:44" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical WES" "0000432645" "00431231" "1" "00006" "00006" "2023-02-04 16:19:44" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical WES" "0000432646" "00431232" "1" "00006" "00006" "2023-02-04 16:33:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432647" "00431233" "1" "00006" "00006" "2023-02-04 16:40:36" "00006" "2023-02-04 16:49:52" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000302852" "SLC25A42" ## 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 = 19 "{{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}}" "0000666209" "3" "70" "19" "19221599" "19221599" "subst" "0" "00006" "SLC25A42_000001" "g.19221599A>G" "" "{PMID:Maddirevula 2019:30237576}" "" "" "ACMG PS1, PM2" "Germline" "" "" "0" "" "" "g.19110790A>G" "" "likely pathogenic (recessive)" "ACMG" "0000894889" "0" "50" "19" "19221555" "19221555" "subst" "0.000312526" "02325" "SLC25A42_000002" "g.19221555G>A" "" "" "" "SLC25A42(NM_178526.5):c.827G>A (p.R276Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000918180" "3" "90" "19" "19221599" "19221599" "subst" "0" "00006" "SLC25A42_000001" "g.19221599A>G" "" "{PMID:Shamseldin 2016:26541337}" "" "" "" "Germline" "" "" "0" "" "" "g.19110790A>G" "" "pathogenic (recessive)" "" "0000918181" "3" "90" "19" "19221599" "19221599" "subst" "0" "00006" "SLC25A42_000001" "g.19221599A>G" "" "{PMID:Almannai 2018:29327420}" "" "" "" "Germline" "" "" "0" "" "" "g.19110790A>G" "" "pathogenic (recessive)" "" "0000918182" "3" "90" "19" "19221599" "19221599" "subst" "0" "00006" "SLC25A42_000001" "g.19221599A>G" "" "{PMID:Almannai 2018:29327420}" "" "" "" "Germline" "" "" "0" "" "" "g.19110790A>G" "" "pathogenic (recessive)" "" "0000918183" "3" "90" "19" "19221599" "19221599" "subst" "0" "00006" "SLC25A42_000001" "g.19221599A>G" "" "{PMID:Almannai 2018:29327420}" "" "" "" "Germline" "" "" "0" "" "" "g.19110790A>G" "" "pathogenic (recessive)" "" "0000918184" "3" "90" "19" "19221599" "19221599" "subst" "0" "00006" "SLC25A42_000001" "g.19221599A>G" "" "{PMID:Almannai 2018:29327420}" "" "" "" "Germline" "yes" "" "0" "" "" "g.19110790A>G" "" "pathogenic (recessive)" "" "0000918185" "3" "90" "19" "19221599" "19221599" "subst" "0" "00006" "SLC25A42_000001" "g.19221599A>G" "" "{PMID:Almannai 2018:29327420}" "" "" "" "Germline" "yes" "" "0" "" "" "g.19110790A>G" "" "pathogenic (recessive)" "" "0000918186" "3" "90" "19" "19221599" "19221599" "subst" "0" "00006" "SLC25A42_000001" "g.19221599A>G" "" "{PMID:Almannai 2018:29327420}" "" "" "" "Germline" "yes" "" "0" "" "" "g.19110790A>G" "" "pathogenic (recessive)" "" "0000918187" "3" "90" "19" "19221599" "19221599" "subst" "0" "00006" "SLC25A42_000001" "g.19221599A>G" "" "{PMID:Almannai 2018:29327420}" "" "" "" "Germline" "yes" "" "0" "" "" "g.19110790A>G" "" "pathogenic (recessive)" "" "0000918188" "3" "90" "19" "19221599" "19221599" "subst" "0" "00006" "SLC25A42_000001" "g.19221599A>G" "" "{PMID:Almannai 2018:29327420}" "" "" "" "Germline" "" "" "0" "" "" "g.19110790A>G" "" "pathogenic (recessive)" "" "0000918189" "3" "90" "19" "19221599" "19221599" "subst" "0" "00006" "SLC25A42_000001" "g.19221599A>G" "" "{PMID:Almannai 2018:29327420}" "" "" "" "Germline" "yes" "" "0" "" "" "g.19110790A>G" "" "pathogenic (recessive)" "" "0000918190" "3" "90" "19" "19221599" "19221599" "subst" "0" "00006" "SLC25A42_000001" "g.19221599A>G" "" "{PMID:Almannai 2018:29327420}" "" "" "" "Germline" "yes" "" "0" "" "" "g.19110790A>G" "" "pathogenic (recessive)" "" "0000918191" "3" "90" "19" "19221599" "19221599" "subst" "0" "00006" "SLC25A42_000001" "g.19221599A>G" "" "{PMID:Almannai 2018:29327420}" "" "" "" "Germline" "" "" "0" "" "" "g.19110790A>G" "" "pathogenic (recessive)" "" "0000918192" "3" "90" "19" "19221599" "19221599" "subst" "0" "00006" "SLC25A42_000001" "g.19221599A>G" "" "{PMID:Almannai 2018:29327420}" "" "" "" "Germline" "" "" "0" "" "" "g.19110790A>G" "" "pathogenic (recessive)" "" "0000918196" "3" "90" "19" "19221599" "19221599" "subst" "0" "00006" "SLC25A42_000001" "g.19221599A>G" "" "{PMID:Isuo 2019:29923093}" "" "" "" "Germline" "" "" "0" "" "" "g.19110790A>G" "" "pathogenic (recessive)" "" "0000918197" "3" "90" "19" "19216538" "19216538" "subst" "0" "00006" "SLC25A42_000003" "g.19216538T>A" "" "{PMID:Isuo 2019:29923093}, {PMID:Yepez 2022:35379322}" "" "" "" "Germline" "" "" "0" "" "" "g.19105729T>A" "" "pathogenic (recessive)" "" "0001042808" "0" "50" "19" "19218779" "19218779" "subst" "0.000366718" "01804" "SLC25A42_000004" "g.19218779C>T" "" "" "" "SLC25A42(NM_178526.5):c.574C>T (p.(Pro192Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042809" "0" "30" "19" "19221371" "19221371" "subst" "0" "01804" "SLC25A42_000005" "g.19221371C>T" "" "" "" "SLC25A42(NM_178526.5):c.650-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely 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 SLC25A42 ## Count = 19 "{{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}}" "0000666209" "00019224" "70" "871" "0" "871" "0" "c.871A>G" "r.(?)" "p.(Asn291Asp)" "" "0000894889" "00019224" "50" "827" "0" "827" "0" "c.827G>A" "r.(?)" "p.(Arg276Gln)" "" "0000918180" "00019224" "90" "871" "0" "871" "0" "c.871A>G" "r.(?)" "p.(Asn291Asp)" "" "0000918181" "00019224" "90" "871" "0" "871" "0" "c.871A>G" "r.(?)" "p.(Asn291Asp)" "" "0000918182" "00019224" "90" "871" "0" "871" "0" "c.871A>G" "r.(?)" "p.(Asn291Asp)" "" "0000918183" "00019224" "90" "871" "0" "871" "0" "c.871A>G" "r.(?)" "p.(Asn291Asp)" "" "0000918184" "00019224" "90" "871" "0" "871" "0" "c.871A>G" "r.(?)" "p.(Asn291Asp)" "" "0000918185" "00019224" "90" "871" "0" "871" "0" "c.871A>G" "r.(?)" "p.(Asn291Asp)" "" "0000918186" "00019224" "90" "871" "0" "871" "0" "c.871A>G" "r.(?)" "p.(Asn291Asp)" "" "0000918187" "00019224" "90" "871" "0" "871" "0" "c.871A>G" "r.(?)" "p.(Asn291Asp)" "" "0000918188" "00019224" "90" "871" "0" "871" "0" "c.871A>G" "r.(?)" "p.(Asn291Asp)" "" "0000918189" "00019224" "90" "871" "0" "871" "0" "c.871A>G" "r.(?)" "p.(Asn291Asp)" "" "0000918190" "00019224" "90" "871" "0" "871" "0" "c.871A>G" "r.(?)" "p.(Asn291Asp)" "" "0000918191" "00019224" "90" "871" "0" "871" "0" "c.871A>G" "r.(?)" "p.(Asn291Asp)" "" "0000918192" "00019224" "90" "871" "0" "871" "0" "c.871A>G" "r.(?)" "p.(Asn291Asp)" "" "0000918196" "00019224" "90" "871" "0" "871" "0" "c.871A>G" "r.(?)" "p.(Asn291Asp)" "" "0000918197" "00019224" "90" "380" "2" "380" "2" "c.380+2T>A" "r.[298_380del,339_380del, 380_381ins[ga;380+3_381-1]]" "p.?" "5i" "0001042808" "00019224" "50" "574" "0" "574" "0" "c.574C>T" "r.(?)" "p.(Pro192Ser)" "" "0001042809" "00019224" "30" "650" "-7" "650" "-7" "c.650-7C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000302852" "0000666209" "0000432633" "0000918180" "0000432634" "0000918181" "0000432635" "0000918182" "0000432636" "0000918183" "0000432637" "0000918184" "0000432638" "0000918185" "0000432639" "0000918186" "0000432640" "0000918187" "0000432641" "0000918188" "0000432642" "0000918189" "0000432643" "0000918190" "0000432644" "0000918191" "0000432645" "0000918192" "0000432646" "0000918196" "0000432647" "0000918197"