### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NDUFV2) # 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}}" "NDUFV2" "NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa" "18" "p11.22" "unknown" "NG_013355.1" "UD_132085324647" "" "https://www.LOVD.nl/NDUFV2" "" "1" "7717" "4729" "600532" "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/NDUFV2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-08-12 09:43:08" "00000" "2024-04-19 20:27:30" ## 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}}" "00014441" "NDUFV2" "NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa" "001" "NM_021074.4" "" "NP_066552.2" "" "" "" "-114" "816" "750" "9102628" "9134343" "" "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" "00611" "MC1DN" "mitochondrial complex I deficiency, nuclear (MC1DN)" "AR" "252010" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04094" "MC3DN7" "mitochondrial complex III deficiency, nuclear type 7 (MC3DN-7)" "AR" "615824" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05965" "MC1DN7" "mitochondrial complex I deficiency, nuclear type 7 (MC1DN7)" "AR" "618229" "" "" "" "00006" "2021-08-12 09:49:19" "00006" "2021-08-12 09:49:46" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NDUFV2" "00611" "NDUFV2" "05965" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00361897" "" "" "" "1" "" "03219" "" "" "" "" "" "" "" "" "" "" "" "00374411" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-832" "00374412" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1310" "00380220" "" "" "" "1" "" "04151" "" "" "M" "" "" "" "" "" "" "" "" "00380222" "" "" "" "1" "" "04151" "" "" "F" "" "" "" "" "" "" "" "" "00406733" "" "" "" "2" "" "00006" "{PMID:Liu 2022:33811136}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F;M" "no" "China" "" "0" "" "" "" "Fam1PatII1/2" "00406734" "" "" "" "2" "" "00006" "{PMID:Liu 2022:33811136}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "" "Fam2PatII1/2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00361897" "04094" "00374411" "00198" "00374412" "00198" "00380220" "00611" "00380222" "00611" "00406733" "00198" "00406734" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00611, 04094, 05965 ## Count = 5 "{{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}}" "0000257291" "04094" "00361897" "03219" "Familial, autosomal recessive" "" "Neuroregression and MRI brain showing leukoencephalopathy" "" "" "" "" "" "" "" "" "" "" "" "0000269621" "00198" "00374411" "00006" "Familial, autosomal recessive" "" "Excess cry, sudden onset of irritability, increased tone in limbs, fever followed by left hemiparesis and lost all milestones. MRI revealed leukodystrophy." "" "" "" "" "" "" "" "" "" "leukodystrophy" "" "0000269622" "00198" "00374412" "00006" "Familial, autosomal recessive" "" "Episodic vomiting, headache, irritability, global developmental delay and ataxia." "" "" "" "" "" "" "" "" "" "ataxia, leukodystrophy" "" "0000299184" "00198" "00406733" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "progressive cavitating leukoencephalopathy" "" "0000299185" "00198" "00406734" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "progressive cavitating leukoencephalopathy" "" ## 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}}" "0000363125" "00361897" "1" "03219" "03219" "2021-04-12 06:06:40" "" "" "SEQ-NG" "DNA" "" "" "0000375605" "00374411" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375606" "00374412" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000381422" "00380220" "1" "04151" "04151" "2021-08-12 04:34:31" "04151" "2021-08-12 08:24:24" "PCR;SEQ;SEQ-NG" "DNA" "" "" "0000381424" "00380222" "1" "04151" "04151" "2021-08-12 05:00:12" "00006" "2021-08-12 09:40:48" "SEQ-NG" "DNA" "" "" "0000381439" "00380222" "1" "04151" "04151" "2021-08-13 06:36:55" "" "" "SEQ-NG" "RNA" "" "" "0000407980" "00406733" "1" "00006" "00006" "2022-04-04 17:20:04" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000407981" "00406734" "1" "00006" "00006" "2022-04-04 17:23:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000375605" "NDUFV2" "0000375606" "NDUFV2" "0000381422" "NDUFV2" "0000381424" "NDUFV2" "0000381439" "NDUFV2" ## 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 = 16 "{{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}}" "0000296402" "0" "10" "18" "9117867" "9117867" "subst" "0.797964" "02325" "NDUFV2_000001" "g.9117867T>C" "" "" "" "NDUFV2(NM_021074.5):c.86T>C (p.V29A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9117869T>C" "" "benign" "" "0000617267" "0" "90" "18" "9117843" "9117844" "del" "7.72854E-5" "01943" "NDUFV2_000002" "g.9117843_9117844del" "" "" "" "NDUFV2(NM_021074.4):c.62_63delAT (p.H21Rfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9117845_9117846del" "" "pathogenic" "" "0000763553" "3" "70" "18" "9124950" "9124950" "subst" "4.0619E-6" "03219" "NDUFV2_000003" "g.9124950C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "ACMG" "0000786956" "0" "70" "18" "9102742" "9102742" "subst" "0" "00006" "NDUFV2_000004" "g.9102742A>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.9102744A>G" "" "likely pathogenic" "" "0000786957" "1" "70" "18" "9122637" "9122637" "subst" "4.06121E-5" "00006" "NDUFV2_000005" "g.9122637C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs768703151" "0" "" "" "g.9122639C>T" "" "likely pathogenic" "" "0000787504" "0" "50" "18" "9124949" "9124949" "subst" "0" "00000" "NDUFV2_000006" "g.9124949G>A" "" "0" "" "" "" "Germline" "" "rs1428682980" "0" "" "" "g.9124951G>A" "" "VUS" "" "0000787505" "2" "50" "18" "9134221" "9134221" "subst" "1.21823E-5" "00000" "NDUFV2_000007" "g.9134221A>C" "" "0" "" "" "" "Germline" "" "rs534384070" "0" "" "" "g.9134223A>C" "" "VUS" "" "0000794875" "11" "70" "18" "9126829" "9126829" "subst" "0" "04151" "NDUFV2_000008" "g.9126829G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.9126831G>A" "1180489" "pathogenic" "ACMG" "0000794877" "0" "90" "18" "9122492" "9124464" "delins" "0" "04151" "NDUFV2_000009" "g.9122492_9124464delinsT[?]" "" "" "" "" "insertion of T-stretch of unknown length" "Germline/De novo (untested)" "" "" "0" "" "" "g.9122494_9124466delinsT[?]" "" "pathogenic (recessive)" "ACMG" "0000794897" "0" "90" "18" "9122637" "9122637" "subst" "4.06121E-5" "04151" "NDUFV2_000005" "g.9122637C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "1033973" "pathogenic (recessive)" "ACMG" "0000795121" "0" "90" "18" "9122637" "9122637" "subst" "4.06121E-5" "04151" "NDUFV2_000005" "g.9122637C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "1033973" "pathogenic (recessive)" "ACMG" "0000808593" "0" "50" "18" "9122590" "9122590" "subst" "2.84264E-5" "01943" "NDUFV2_000010" "g.9122590T>C" "" "" "" "NDUFV2(NM_021074.4):c.380T>C (p.V127A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000844840" "3" "90" "18" "9124949" "9124949" "subst" "0" "00006" "NDUFV2_000006" "g.9124949G>A" "" "{PMID:Liu 2022:33811136}" "" "" "" "Germline" "yes" "" "0" "" "" "g.9124951G>A" "" "pathogenic (recessive)" "" "0000844841" "11" "90" "18" "9122677" "9122677" "subst" "0" "00006" "NDUFV2_000011" "g.9122677T>A" "" "{PMID:Liu 2022:33811136}" "" "" "" "Germline" "yes" "" "0" "" "" "g.9122679T>A" "" "pathogenic (recessive)" "" "0000844843" "3" "90" "18" "9122614" "9122614" "subst" "0" "00006" "NDUFV2_000012" "g.9122614G>C" "" "{PMID:Liu 2022:33811136}" "" "" "" "Germline" "yes" "" "0" "" "" "g.9122616G>C" "" "pathogenic (recessive)" "" "0000983129" "0" "50" "18" "9122581" "9122581" "subst" "7.71586E-5" "01804" "NDUFV2_000013" "g.9122581G>C" "" "" "" "NDUFV2(NM_021074.5):c.371G>C (p.(Arg124Pro))" "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 NDUFV2 ## Count = 16 "{{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}}" "0000296402" "00014441" "10" "86" "0" "86" "0" "c.86T>C" "r.(?)" "p.(Val29Ala)" "" "0000617267" "00014441" "90" "62" "0" "63" "0" "c.62_63del" "r.(?)" "p.(His21ArgfsTer6)" "" "0000763553" "00014441" "70" "548" "0" "548" "0" "c.548C>T" "r.(?)" "p.(Ala183Val)" "" "0000786956" "00014441" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "1" "0000786957" "00014441" "70" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143Ter)" "5" "0000787504" "00014441" "50" "547" "0" "547" "0" "c.547G>A" "r.(?)" "p.(Ala183Thr)" "6" "0000787505" "00014441" "50" "694" "0" "694" "0" "c.694A>C" "r.(?)" "p.(Thr232Pro)" "8" "0000794875" "00014441" "70" "580" "0" "580" "0" "c.580G>A" "r.(580g>a)" "p.(Glu194Lys)" "" "0000794877" "00014441" "90" "301" "-19" "470" "-408" "c.301-19_470-408delinsT[?]" "r.?" "p.?" "" "0000794897" "00014441" "90" "427" "0" "427" "0" "c.427C>T" "r.(427c>u)" "p.(Arg143*)" "" "0000795121" "00014441" "90" "427" "0" "427" "0" "c.427C>T" "r.(427c>u)" "p.(Arg143*)" "" "0000808593" "00014441" "50" "380" "0" "380" "0" "c.380T>C" "r.(?)" "p.(Val127Ala)" "" "0000844840" "00014441" "90" "547" "0" "547" "0" "c.547G>A" "r.(?)" "p.(Ala183Thr)" "" "0000844841" "00014441" "90" "467" "0" "467" "0" "c.467T>A" "r.(?)" "p.(Leu156His)" "" "0000844843" "00014441" "90" "404" "0" "404" "0" "c.404G>C" "r.(?)" "p.(Cys135Ser)" "" "0000983129" "00014441" "50" "371" "0" "371" "0" "c.371G>C" "r.(?)" "p.(Arg124Pro)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000363125" "0000763553" "0000375605" "0000786956" "0000375605" "0000787504" "0000375606" "0000786957" "0000375606" "0000787505" "0000381422" "0000794877" "0000381422" "0000795121" "0000381424" "0000794875" "0000381439" "0000794897" "0000407980" "0000844840" "0000407981" "0000844841" "0000407981" "0000844843"