Full data view for gene OGDHL

Information The variants shown are described using the NM_018245.2 transcript reference sequence.

60 entries on 1 page. Showing entries 1 - 60.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

Treatment     

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Owner     
-?/. - c.68A>G r.(?) p.(Asp23Gly) Unknown - likely benign g.50966571T>C - OGDHL(NM_018245.2):c.68A>G (p.(Asp23Gly)) - OGDHL_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.256G>C r.(?) p.(Ala86Pro) Unknown - likely benign g.50964941C>G - OGDHL(NM_018245.2):c.256G>C (p.(Ala86Pro)) - OGDHL_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.587G>A r.(?) p.(Arg196His) Unknown - VUS g.50960186C>T - OGDHL(NM_018245.3):c.587G>A (p.(Arg196His)) - OGDHL_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.660G>C r.(?) p.(Trp220Cys) Parent #1 - pathogenic (recessive) g.50959962C>G g.49751916C>G - - OGDHL_000015 - PubMed: Yap 2021 - - Germline - - - - - DNA SEQ-NG - - NEDIDHA Fam4Pat5 PubMed: Yap 2021 - F no Ukraine - - - - - 1 Simone Seiffert
-?/. - c.660G>C r.(?) p.(Trp220Cys) Parent #1 ACMG likely benign (recessive) g.50959962C>G g.49751916C>G - - OGDHL_000015 ACMG BS2_S, BS3_M PubMed: Lin 2023, Journal: Lin 2023 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - Exome sequencing epilepsy Fam8PatIII1 PubMed: Lin 2023, Journal: Lin 2023 2-generation family, 1 affected, unaffected parents M no Germany - - - - - 1 Barbara Vona
-?/. - c.660G>C r.(?) p.(Trp220Cys) Unknown ACMG likely benign g.50959962C>G - - - OGDHL_000015 Variant functionally tested and re-classified Journal: Lin 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.660G>C r.(?) p.(Trp220Cys) Unknown - likely benign g.50959962C>G - OGDHL(NM_018245.3):c.660G>C (p.(Trp220Cys)) - OGDHL_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.730C>T r.(?) p.(Arg244Trp) Both (homozygous) - pathogenic (recessive) g.50959892G>A g.49751846G>A - - OGDHL_000014 - PubMed: Yap 2021 - - Germline - - - - - DNA SEQ-NG - - NEDIDHA Fam5Pat6 PubMed: Yap 2021 - M yes Pakistan - - - - - 1 Simone Seiffert
?/. - c.730C>T r.(?) p.(Arg244Trp) Unknown ACMG VUS (!) g.50959892G>A - - - OGDHL_000014 Variant functionally tested and re-classified as VUS-favor pathogenic Journal: Lin 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.730C>T r.(?) p.(Arg244Trp) Unknown - VUS g.50959892G>A - OGDHL(NM_018245.3):c.730C>T (p.(Arg244Trp)) - OGDHL_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.791G>A r.(?) p.(Arg264Gln) Unknown - VUS g.50958990C>T - OGDHL(NM_018245.3):c.791G>A (p.(Arg264Gln)) - OGDHL_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.895A>G r.(?) p.(Arg299Gly) Both (homozygous) - pathogenic (recessive) g.50958886T>C g.49750840T>C - - OGDHL_000013 - PubMed: Yap 2021 - - Germline - - - - - DNA SEQ-NG - - NEDIDHA Fam7Pat8 PubMed: Yap 2021 - M yes Iran - - - - - 1 Simone Seiffert
+?/. - c.895A>G r.(?) p.(Arg299Gly) Unknown ACMG VUS (!) g.50958886T>C - - - OGDHL_000013 Variant functionally tested and re-classified as VUS-favor pathogenic Journal: Lin 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.897-1G>A r.spl? p.? Unknown - VUS g.50957863C>T - OGDHL(NM_001347821.1):c.270-1G>A - OGDHL_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.980C>T r.(?) p.(Ala327Val) Parent #2 - pathogenic (recessive) g.50957779G>A g.49749733G>A - - OGDHL_000012 - PubMed: Yap 2021 - - Germline - - - - - DNA SEQ-NG - - NEDIDHA Fam3Pat4 PubMed: Yap 2021 - M no Germany - - - - - 1 Simone Seiffert
?/. - c.980C>T r.(?) p.(Ala327Val) Unknown ACMG likely benign (recessive) g.50957779G>A - - - OGDHL_000012 Variant functionally tested and re-classified Journal: Lin 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.980C>T r.(?) p.(Ala327Val) Both (homozygous) ACMG likely benign (recessive) g.50957779G>A g.49749733G>A - - OGDHL_000012 ACMG PM2_P, BS3_M; patient has another variant possibly contributing to phenotype PubMed: Lin 2023, Journal: Lin 2023 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - Exome sequencing MYOP Fam11PatII4 PubMed: Lin 2023, Journal: Lin 2023 2-generation family, affected twin pair F, M), unaffected parents F yes Egypt - - - - - 1 Barbara Vona
+?/. - c.1081C>T r.(?) p.(Pro361Ser) Both (homozygous) ACMG VUS g.50955161G>A g.49747115G>A - - OGDHL_000022 ACMG PM2_P, PP3_M, PS3_M PubMed: Lin 2023, Journal: Lin 2023 - - Germline ? - - - - DNA SEQ-NG-I - Exome sequencing neurodegeneration Fam6PatIV1 PubMed: Lin 2023, Journal: Lin 2023 3-generation family, 1 affected, unaffected heterozygous parents M yes Iran - - - - - 1 Barbara Vona
?/. - c.1238T>C r.(?) p.(Leu413Pro) Unknown - VUS g.50954854A>G - OGDHL(NM_018245.3):c.1238T>C (p.(Leu413Pro)) - OGDHL_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 10 c.1259C>T r.(?) p.(Thr420Met) Both (homozygous) ACMG likely pathogenic (recessive) g.50954833G>A g.49746787G>A - - OGDHL_000021 ACMG PM2_P, PP1_M, PP3_M, PS3_M PubMed: Lin 2023, Journal: Lin 2023 - - Germline yes - - - - DNA SEQ-NG-I - Exome sequencing NDD Fam1PatIV4 PubMed: Lin 2023, Journal: Lin 2023 4-generation family, 1 affected, unaffected heterozygous parents M yes Iran - - - - - 1 Barbara Vona
+?/. - c.1259C>T r.(?) p.(Thr420Met) Both (homozygous) ACMG likely pathogenic (recessive) g.50954833G>A - - - OGDHL_000021 ACMG PM2_P, PP1_M, PP3_M, PS3_M PubMed: Lin 2023, Journal: Lin 2023 - - Germline - - - - - DNA SEQ-NG-I - Exome sequencing NDD Fam2PatIV3 PubMed: Lin 2023, Journal: Lin 2023 4-generation family, 1 affected, unaffected heterozygous parents/relatives F yes Egypt - - - - - 1 Barbara Vona
+?/. - c.1259C>T r.(?) p.(Thr420Met) Both (homozygous) ACMG likely pathogenic (recessive) g.50954833G>A - - - OGDHL_000021 ACMG PM2_P, PP1_M, PP3_M, PS3_M PubMed: Lin 2023, Journal: Lin 2023 - - Germline - - - - - DNA SEQ-NG-I - Exome sequencing MPS, neurodegeneration Fam3PatII1 PubMed: Lin 2023, Journal: Lin 2023 2-generation family, 1 affected, unaffected heterozygous parents/relatives M yes Sudan - - - - - 1 Barbara Vona
+/. - c.1318C>T r.(?) p.(Arg440*) Both (homozygous) - pathogenic (recessive) g.50954002G>A g.49745956G>A - - OGDHL_000011 - PubMed: Yap 2021 - - Germline - - - - - DNA SEQ-NG - - NEDIDHA Fam8Pat9 PubMed: Yap 2021 - F yes Iraq - - - - - 1 Simone Seiffert
+/. - c.1318C>T r.(?) p.(Arg440*) Unknown ACMG pathogenic (recessive) g.50954002G>A - - - OGDHL_000011 Variant functionally tested and re-classified Journal: Lin 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1334C>T r.(?) p.(Ser445Leu) Both (homozygous) ACMG VUS g.50953986G>A - - - OGDHL_000020 ACMG PM2_P, PP3_M, BS3_M PubMed: Lin 2023, Journal: Lin 2023 - - Germline ? - - - - DNA SEQ-NG-I - Exome sequencing NDD Fam5PatIV1 PubMed: Lin 2023, Journal: Lin 2023 4-generation family, 1 affected, unaffected parents M yes United States African-American - - - - 1 Barbara Vona
?/. - c.1380C>G r.(?) p.(Phe460Leu) Both (homozygous) ACMG VUS g.50953940G>C g.49745894G>C - - OGDHL_000024 ACMG PM2_P, PP3_M, BS3_M; patient has another variant possibly contributing to phenotype PubMed: Lin 2023, Journal: Lin 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - trio WES ? Pat4;Fam10Pat12 PubMed: Tan 2020, Journal: Tan 2020, PubMed: Lin 2023, Journal: Lin 2023 2-generation family, 1 affected, unaffected parents M yes Iran Azari - - - - 1 Barbara Vona
+?/. - c.1464T>C r.[1297_1476del,=] p.[Ile433_Leu492del,=] Parent #2 - pathogenic (recessive) g.50953856A>G g.49745810A>G - - OGDHL_000010 Variant lead to a higher proportion of a transcript where Exon 11 is skipped. In controls this transcript is available at a proportion of about 15 % while in the patient it is at about 50%. This suggests, that this overrepresentation of the delta exon 11 transcript is favoured by the presence of the synonymous variant. PubMed: Yap 2021 - - Germline - - - - - DNA SEQ-NG - - NEDIDHA Fam2Pat3 PubMed: Yap 2021 - M no Italy - - - - - 1 Simone Seiffert
?/. - c.1464T>C r.(?) p.(=) Unknown ACMG VUS g.50953856A>G - - - OGDHL_000010 - Journal: Lin 2023 - - SUMMARY record ? - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1472A>T r.(?) p.(Asp491Val) Parent #2 - pathogenic (recessive) g.50953848T>A g.49745802T>A - - OGDHL_000009 - PubMed: Yap 2021 - - Germline - - - - - DNA SEQ-NG - - NEDIDHA Fam4Pat5 PubMed: Yap 2021 - F no Ukraine - - - - - 1 Simone Seiffert
+?/. - c.1472A>T r.(?) p.(Asp491Val) Unknown ACMG VUS (!) g.50953848T>A - - - OGDHL_000009 Variant functionally tested and re-classified as VUS-favor pathogenic Journal: Lin 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1486C>T r.(?) p.(Arg496Cys) Parent #2 ACMG VUS g.50953533G>A g.49745487G>A - - OGDHL_000019 ACMG PM2_P, PP3_M, PS3_M PubMed: Lin 2023, Journal: Lin 2023 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - Exome sequencing epilepsy Fam8PatIII1 PubMed: Lin 2023, Journal: Lin 2023 2-generation family, 1 affected, unaffected parents M no Germany - - - - - 1 Barbara Vona
?/. - c.1658del r.(?) p.(Cys553LeufsTer16) Unknown - VUS g.50952770del g.49744724del OGDHL(NM_018245.2):c.1658delG (p.C553Lfs*16) - OGDHL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1658del r.(?) p.(Cys553Leufs*16) Both (homozygous) - pathogenic (recessive) g.50952770del g.49744724del c.1658del - OGDHL_000008 - PubMed: Yap 2021 - - Germline - - - - - DNA SEQ-NG - - NEDIDHA Fam6Pat7 PubMed: Yap 2021 - M yes Syria - - - - - 1 Simone Seiffert
+/. - c.1658del r.(?) p.(Cys553Leufs*16) Unknown ACMG pathogenic (recessive) g.50952770del g.49744724del - - OGDHL_000003 Variant functionally tested and re-classified Journal: Lin 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1984G>A r.(?) p.(Gly662Arg) Unknown - VUS g.50950902C>T - OGDHL(NM_018245.3):c.1984G>A (p.(Gly662Arg)) - OGDHL_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2018G>A r.(?) p.(Arg673Gln) Parent #1 - pathogenic (recessive) g.50948878C>T g.49740832C>T - - OGDHL_000007 - PubMed: Yap 2021 - - Germline - - - - - DNA SEQ-NG - - NEDIDHA Fam2Pat3 PubMed: Yap 2021 - M no Italy - - - - - 1 Simone Seiffert
+?/. - c.2018G>A r.(?) p.(Arg673Gln) Unknown ACMG VUS (!) g.50948878C>T - - - OGDHL_000007 Variant functionally tested and re-classified as VUS-favor pathogenic Journal: Lin 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2133del r.(?) p.(Val712Serfs*77) Both (homozygous) ACMG VUS g.50948763del g.49740717del 2133delA - OGDHL_000018 ACMG PVS1_VS, PM2_P, BS4_S BS3_M PubMed: Doll 2020, PubMed: Lin 2023, Journal: Lin 2023 - - Germline yes - - - - DNA SEQ-NG-I - Exome sequencing DFNB ?;Fam9PatIV2 PubMed: Doll 2020, , PubMed: Lin 2023, Journal: Lin 2023 4-generation family, 2 affected sisters, unaffected parents F yes Iran - - - - - 2 Barbara Vona
?/. - c.2133del r.(?) p.(Val712Serfs*77) Unknown ACMG VUS g.50948763del g.49740717del - - OGDHL_000018 ACMG PVS1_VS, PM2_P, BS4_S BS3_M PubMed: Lin 2023, Journal: Lin 2023 - - Germline no - - - - DNA, RNA RT-PCR, SEQ-NG-I - Minigene analysis DFNB32 ?;Fam9PatIV8 PubMed: Doll 2020, PubMed: Lin 2023, Journal: Lin 2023 sister F yes Iran - - - - - 1 Barbara Vona
-?/. - c.2201T>C r.(?) p.(Phe734Ser) Parent #1 - likely benign g.50947825A>G g.49739779A>G - - OGDHL_000004 10 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143105288 Germline - 10/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 10 Mohammed Faruq
+/. - c.2201T>C r.(?) p.(Phe734Ser) Parent #1 - pathogenic (recessive) g.50947825A>G g.49739779A>G - - OGDHL_000004 - PubMed: Yap 2021 - - Germline - - - - - DNA SEQ-NG - - NEDIDHA Fam3Pat4 PubMed: Yap 2021 - M no Germany - - - - - 1 Simone Seiffert
?/. - c.2201T>C r.(?) p.(Phe734Ser) Parent #1 ACMG VUS (!) g.50947825A>G - - - OGDHL_000004 Variant functionally tested and re-classified as VUS-favor benign Journal: Lin 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2273G>A r.(?) p.(Arg758Gln) Both (homozygous) ACMG VUS g.50947753C>T g.49739707C>T - - OGDHL_000023 Patient has another variant but uncertain about contribution to phenotype PubMed: Lin 2023, Journal: Lin 2023 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - Exome sequencing CMH Fam12PatII2 PubMed: Lin 2023, Journal: Lin 2023 2-generation family, 1 affected, unaffected parents F yes Iran - - - - - 1 Barbara Vona
?/. - c.2273G>A r.(?) p.(Arg758Gln) Unknown - VUS g.50947753C>T - OGDHL(NM_018245.3):c.2273G>A (p.(Arg758Gln)) - OGDHL_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2333C>T r.(?) p.(Ser778Leu) Both (homozygous) - pathogenic g.50946295G>A g.49738249G>A NM_001143996: c.C2162T; p.S721L - OGDHL_000001 - PubMed: Karaca 2015 - - Germline - - - - - DNA SEQ-NG-I - WES ? 26539891-FamBAB4852 PubMed: Karaca 2015 - - - - - - - family structure in paper - 1 Johan den Dunnen
+?/. - c.2333C>T r.(?) p.(Ser778Leu) Both (homozygous) ACMG VUS (!) g.50946295G>A - - - OGDHL_000001 Variant functionally tested and re-classified as VUS-favor pathogenic Journal: Lin 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/? - c.2333C>T r.(?) p.(Ser778Leu) Both (homozygous) - VUS g.50946295G>A g.49738249G>A C2333T - OGDHL_000001 candidate variants in other genes; classified as VUS in Lin 2023 (ACMG PM2, PP3 PS3) PubMed: Yoon 2017, PubMed: Lin 2023, Journal: Lin 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD BAB4852 PubMed: Yoon 2017 2-generation family, 1 affected (deceased affected older brother), unaffected heterozygous parents/relatives F - United States Turkey - - - - 1 Johan den Dunnen
?/. - c.2486G>A r.(?) p.(Arg829His) Unknown - VUS g.50946024C>T - OGDHL(NM_018245.3):c.2486G>A (p.(Arg829His)) - OGDHL_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2509C>T r.(?) p.(Arg837Cys) Unknown - VUS g.50946001G>A - OGDHL(NM_018245.3):c.2509C>T (p.(Arg837Cys)) - OGDHL_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2554C>G r.(?) p.(Pro852Ala) Both (homozygous) ACMG likely pathogenic (recessive) g.50945868G>C g.49737822G>C - - OGDHL_000006 ACMG PP1, PM2, PP3, PS3 PubMed: Yap 2021, PubMed: Lin 2023, Journal: Lin 2023 - - Germline - - - - - DNA SEQ-NG - exome sequencing NEDIDHA Fam1Pat1 PubMed: Yap 2021 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Iran - - - - - 2 Simone Seiffert
+/. - c.2554C>G r.(?) p.(Pro852Ala) Both (homozygous) - pathogenic (recessive) g.50945868G>C g.49737822G>C - - OGDHL_000006 - PubMed: Yap 2021 - - Germline - - - - - DNA SEQ-NG - - NEDIDHA Fam1Pat2 PubMed: Yap 2021 sister F yes Iran - - - - - 1 Simone Seiffert
+?/. - c.2554C>G r.(?) p.(Pro852Ala) Unknown ACMG likely pathogenic (recessive) g.50945868G>C - - - OGDHL_000006 Variant functionally tested and re-classified Journal: Lin 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2590+5G>A r.spl? p.? Unknown - VUS g.50945827C>T - OGDHL(NM_018245.3):c.2590+5G>A - OGDHL_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2606G>A r.(?) p.(Arg869Gln) Both (homozygous) ACMG likely pathogenic (recessive) g.50944551C>T - - - OGDHL_000017 ACMG PM2_P, PP1_P, PP3_M, PS3_M PubMed: Lin 2023, Journal: Lin 2023 - - Germline yes - - - - DNA SEQ-NG-I - Exome sequencing NDD Fam4PatIV2/7 PubMed: Lin 2023, Journal: Lin 2023 4-generation family, affected sister/brother, unaffected heterozygous parents/relatives F yes Syria - - - - - 2 Barbara Vona
?/. - c.2606G>A r.(?) p.(Arg869Gln) Unknown - VUS g.50944551C>T - OGDHL(NM_018245.3):c.2606G>A (p.(Arg869Gln)) - OGDHL_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2657G>A r.(?) p.(Arg886Gln) Unknown - VUS g.50944500C>T - OGDHL(NM_018245.3):c.2657G>A (p.(Arg886Gln)) - OGDHL_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2740A>G r.(?) p.(Thr914Ala) Both (homozygous) ACMG likely benign g.50944417T>C g.49736371T>C - - OGDHL_000016 ACMG PM2_P, BP4_M, BS3_M PubMed: Lin 2023, Journal: Lin 2023 - - Germline ? - - - - DNA SEQ-NG-I - Exome sequencing ? Fam7PatIII1 PubMed: Lin 2023, Journal: Lin 2023Lin et al. in preparation 3-generation family, 1 affected, unaffected parents F yes United States Europe - - - - 1 Barbara Vona
-?/. - c.2909+5A>G r.spl? p.? Unknown - likely benign g.50944064T>C - OGDHL(NM_018245.3):c.2909+5A>G - OGDHL_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2910-7C>T r.(=) p.(=) Unknown - likely benign g.50943404G>A - OGDHL(NM_018245.3):c.2910-7C>T - OGDHL_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2984T>G r.(?) p.(Phe995Cys) Unknown - VUS g.50943323A>C - - - OGDHL_000032 - - - rs138770207 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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