Unique variants in gene SDHA

This database is one of the TCA cycle gene variant databases
Information The variants shown are described using the NM_004168.2 transcript reference sequence.

149 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. 1 - c.-115T>C r.(?) p.(=) - - - benign g.218356T>C g.218241T>C - - SDHA_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-80C>T r.(?) p.(=) - - - likely benign g.218391C>T g.218276C>T - - SDHA_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-27C>G r.(?) p.(=) - - - likely benign g.218444C>G g.218329C>G - - SDHA_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 2 - c.-7A>C r.(?) p.(=) - - - likely benign g.218464A>C g.218349A>C SDHA(NM_004168.3):c.-7A>C - SDHA_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
-/. 1 - c.-4A>G r.(?) p.(=) - - - benign g.218467A>G g.218352A>G - - SDHA_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/? 1 1 c.1A>C r.(?) p.(Met1?) 0 - - VUS g.218471A>C g.218356A>C A25 C - SDHA_000001 - PubMed: Parfait - - Germline - - + BslI, -NlaIII - - Tonino Ercolino
-?/. 1 - c.10G>A r.(?) p.(Val4Ile) - - - likely benign g.218480G>A g.218365G>A SDHA(NM_004168.3):c.10G>A (p.V4I) - CCDC127_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.17G>A r.(?) p.(Gly6Asp) - - - likely benign g.218487G>A g.218372G>A SDHA(NM_004168.3):c.17G>A (p.G6D) - SDHA_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/., +/? 3 1i c.64-2A>G r.spl?, r.[64_73del, r.63_64ins64-54_64-1;64-2a>g] p.?, p.(=) - - - pathogenic g.223595A>G g.223480A>G SDHA(NM_004168.3):c.64-2A>G - SDHA_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, Herma Renkema
+/., +?/+?, ?/?, +?/. 14 2 c.91C>T r.(?), r.91c>u p.(Arg31*), p.(Arg31Ter) 0 nonsense ACMG pathogenic, likely pathogenic, VUS g.223624C>T g.223509C>T SDHA(NM_004168.2):c.91C>T (p.(Arg31Ter)), SDHA(NM_004168.3):c.91C>T (p.R31*), c.[91C>T]; [=] - SDHA_000013 VKGL data sharing initiative Nederland, relatively common mutation -prob. v. low penetrance, 2 more items PubMed: Korpershoek, PubMed: Pantaleo, PubMed: Pantaleo, PubMed: Rattenberry, PubMed: Boikos - rs142441643 Germline, CLASSIFICATION record, Somatic, Unknown ? 0.3% - - - James Whitworth, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_Rotterdam, VKGL-NL_Groningen, Jean-Pierre Bayley, Herma Renkema, VKGL-NL_Leiden, Andreas Laner
?/. 1 - c.92G>A r.(?) p.(Arg31Gln) - - - VUS g.223625G>A g.223510G>A SDHA(NM_004168.2):c.92G>A (p.(Arg31Gln)) - SDHA_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -/- 3 2 c.113A>T r.(?) p.(Asp38Val) - - - benign g.223646A>T g.223531A>T SDHA(NM_004168.3):c.113A>T (p.D38V), p.D38V - SDHA_000009 VKGL data sharing initiative Nederland PubMed: Bonache - - CLASSIFICATION record, Germline - 6.5% - - - VKGL-NL_Nijmegen, Jean-Pierre Bayley, VKGL-NL_Utrecht
?/. 1 2 c.117del r.(?) p.(Asn40Thrfs*18) - - - VUS g.223650del g.223535del c.G117G/del in exon 2 - SDHA_000060 compound heterozygous in patient PubMed: Ma - - Unknown - - - - - Jean-Pierre Bayley
-?/., ?/. 3 - c.133G>A r.(?) p.(Ala45Thr) - - - likely benign, VUS g.223666G>A g.223551G>A SDHA(NM_004168.3):c.133G>A (p.A45T) - SDHA_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc, VKGL-NL_Groningen
?/. 1 2 c.136A>G r.(?) p.(Lys46Glu) - - - VUS g.223669A>G g.223554A>G c.[136A>G]; [=] - SDHA_000054 VUS PubMed: Rattenberry - - Unknown - - - - - Jean-Pierre Bayley
+?/. 1 - c.150+1G>A r.spl? p.? - - - likely pathogenic g.223684G>A g.223569G>A SDHA(NM_004168.3):c.150+1G>A - SDHA_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/., ?/. 2 - c.163T>C r.(?) p.(Tyr55His) - - - likely benign, VUS g.224487T>C g.224372T>C SDHA(NM_004168.2):c.163T>C (p.(Tyr55His)) - SDHA_000065 5 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland Faruq 2020, submtted - rs142926807 Germline, CLASSIFICATION record - 5/2795 individuals - - - Mohammed Faruq, VKGL-NL_Leiden
?/. 1 3 c.221dup r.(?) p.(Leu74Phefs*9) - - - VUS g.224545dup g.224430dup c.T220T/insT in exon 3 - SDHA_000055 compound heterozygous in patient PubMed: Ma - - Unknown - - - - - Jean-Pierre Bayley
?/. 1 3 c.223C>T r.(?) p.(Arg75*) - - - VUS g.224547C>T g.224432C>T - - SDHA_000056 - PubMed: Welander, PubMed: Welander - - Unknown - - - - - Jean-Pierre Bayley
?/. 1 - c.224G>A r.(?) p.(Arg75Gln) - - - VUS g.224548G>A g.224433G>A SDHA(NM_004168.3):c.224G>A (p.R75Q) - SDHA_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/?, +/? 2 3 c.248C>T r.(?), r.247_312del p.(Ala83Val) 0 - - VUS, pathogenic g.224572C>T g.224457C>T A83V - SDHA_000006 - PubMed: Horvath - - Germline, Unknown - - - - - Jean-Pierre Bayley, Herma Renkema
+?/+? 1 3 c.295C>T r.(?) p.(His99Tyr) - - - likely pathogenic g.224619C>T g.224504C>T - - SDHA_000061 SDHB IHC Neg, SDHA IHC Neg. Carney triad - - - Unknown - - - - - Jean-Pierre Bayley
-/. 1 - c.309A>G r.(?) p.(Ala103=) - - - benign g.224633A>G g.224518A>G - - SDHA_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.312+20C>T r.(=) p.(=) - - - benign g.224656C>T g.224541C>T SDHA(NM_004168.3):c.312+20C>T - SDHA_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 3 - c.313-19G>T r.(=) p.(=) - - - likely benign g.225515G>T g.225400G>T SDHA(NM_004168.3):c.313-19G>T - SDHA_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc, VKGL-NL_Nijmegen
-/. 1 - c.313-16T>G r.(=) p.(=) - - - benign g.225518T>G g.225403T>G SDHA(NM_004168.3):c.313-16T>G - SDHA_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/?, +/? 2 4 c.356G>A r.(?) p.(Trp119*) 0.16 - - VUS, pathogenic g.225577G>A g.225462G>A W119X - SDHA_000007 - PubMed: Horvath - - Unknown - - - - - Jean-Pierre Bayley, Herma Renkema
?/. 1 4 c.394T>C r.(?) p.(Trp132Arg) - - - VUS g.225615T>C g.225500T>C - - SDHA_000057 1 more item PubMed: von Dobschuetz - - Unknown - - - - - Jean-Pierre Bayley
-?/. 1 - c.456+6G>T r.(=) p.(=) - - - likely benign g.225683G>T g.225568G>T SDHA(NM_004168.2):c.456+6G>T (p.(=)) - SDHA_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., -/. 3 - c.456+20G>C r.(=) p.(=) - - - likely benign, benign g.225697G>C g.225582G>C SDHA(NM_004168.3):c.456+20G>C - SDHA_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc, VKGL-NL_Nijmegen
?/. 1 4i_5 c.457-2_457del r.spl? p.? - - - VUS g.225996_225998del g.225881_225883del c.457-3_457-1delCAG - SDHA_000058 LOH PubMed: Belinsky, PubMed: Pantaleo - - Unknown - - - - - Jean-Pierre Bayley
?/. 1 5 c.484A>T r.(?) p.(Arg162*) - - - VUS g.226025A>T g.225910A>T - - SDHA_000059 - PubMed: Mason - - Somatic - - - - - Jean-Pierre Bayley
+?/+?, ?/. 2 5 c.511C>T r.(?) p.(Arg171Cys) - - - likely pathogenic, VUS g.226052C>T g.225937C>T R171C - SDHA_000017 (Somatic mutation?) PubMed: Pantaleo, PubMed: Pantaleo - - Somatic, Unknown - - - - - Jean-Pierre Bayley
-/., ?/. 4 5 c.549C>T r.(?), r.(=) p.(Gly183=), p.(=) - - - benign, VUS g.226090C>T g.225975C>T SDHA(NM_004168.3):c.549C>T (p.G183=), c.[549C>T]; [=] - SDHA_000045 VKGL data sharing initiative Nederland, VUS PubMed: Rattenberry - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_VUmc, VKGL-NL_Rotterdam, Jean-Pierre Bayley, VKGL-NL_Nijmegen
-/., ?/. 3 - c.550G>A r.(?) p.(Gly184Arg) - - - benign, VUS g.226091G>A g.225976G>A SDHA(NM_004168.2):c.550G>A (p.(Gly184Arg)), SDHA(NM_004168.3):c.550G>A (p.G184R) - SDHA_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Rotterdam, VKGL-NL_Leiden
?/. 1 5 c.562C>T r.(?) p.(Arg188Trp) - - - VUS g.226103C>T g.225988C>T - - SDHA_000046 - PubMed: Miettinen - - Unknown - - - - - Jean-Pierre Bayley
+/? 1 5 c.565T>G r.565u>g p.(Cys189Gly) - - - pathogenic g.226106T>G g.225991T>G - - SDHA_000020 - - - - Unknown - - - - - Herma Renkema
-/. 2 - c.619A>C r.(?) p.(Arg207=) - - - benign g.226160A>C g.226045A>C SDHA(NM_004168.3):c.619A>C (p.R207=) - SDHA_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-/. 1 - c.621+60T>C r.(=) p.(=) - - - benign g.226222T>C g.226107T>C - - SDHA_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.622-31C>T r.(=) p.(=) - - - likely benign g.228269C>T g.228154C>T SDHA(NM_004168.3):c.622-31C>T - SDHA_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/. 2 - c.622-13del r.(=) p.(=) - - - benign, likely benign g.228287del g.228172del SDHA(NM_004168.3):c.622-13delT - SDHA_000077, SDHA_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.622-8T>C r.(=) p.(=) - - - likely benign g.228292T>C g.228177T>C SDHA(NM_004168.3):c.622-8T>C - SDHA_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.622-7C>T r.(=) p.(=) - - - likely benign g.228293C>T g.228178C>T SDHA(NM_004168.2):c.622-7C>T (p.(=)) - SDHA_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 6 c.629G>A r.(?) p.(Arg210Gln) - - - VUS g.228307G>A g.228192G>A - - SDHA_000047 - PubMed: Welander - - Unknown - - - - - Jean-Pierre Bayley
?/. 1 - c.679G>A r.(?) p.(Glu227Lys) - - - VUS g.228357G>A g.228242G>A SDHA(NM_001294332.1):c.535G>A (p.E179K) - SDHA_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.684T>C r.(?) p.(Asn228=) - - - benign g.228362T>C g.228247T>C - - SDHA_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.695G>A r.(?) p.(Arg232His) - - - likely benign g.228373G>A g.228258G>A - - SDHA_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 4 - c.723C>T r.(?) p.(Asp241=) - - - likely benign g.228401C>T g.228286C>T SDHA(NM_004168.3):c.723C>T (p.D241=) - SDHA_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 6 c.724_735del r.(?) p.(Gly242_His245del) - - - VUS g.228402_228413del g.228287_228298del c.725_736del - SDHA_000048 Compound heterozygous PubMed: Gill - - Unknown - - - - - Jean-Pierre Bayley
?/. 1 - c.739A>G r.(?) p.(Ile247Val) - - - VUS g.228417A>G g.228302A>G SDHA(NM_004168.3):c.739A>G (p.I247V) - SDHA_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 6 c.767C>T r.(?) p.(Thr256Ile) - - - VUS g.228445C>T g.228330C>T - - SDHA_000049 - PubMed: Miettinen - - Unknown - - - - - Jean-Pierre Bayley
-?/. 1 - c.770+19_770+23del r.(=) p.(=) - - - likely benign g.228467_228471del g.228352_228356del SDHA(NM_004168.3):c.770+19_770+23delCTTTA - SDHA_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 2 - c.771-11A>G r.(=) p.(=) - - - benign g.230980A>G g.230865A>G SDHA(NM_004168.3):c.771-11A>G - SDHA_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
-?/. 1 - c.801G>A r.(?) p.(Thr267=) - - - likely benign g.231021G>A g.230906G>A - - SDHA_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.806C>T r.(?) p.(Ala269Val) - - - VUS g.231026C>T g.230911C>T - - SDHA_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 7 c.818C>T r.(?) p.(Thr273Ile) - - - VUS g.231038C>T g.230923C>T p.(Thr273Ile) - SDHA_000050 conflicting interpretations of pathogenicity; 11 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted, PubMed: Belinsky, PubMed: Miettinen - rs587781720 Germline, Somatic - 11/2795 individuals - - - Mohammed Faruq, Jean-Pierre Bayley
-/., ?/. 3 7 c.822C>T r.(?), r.(=) p.(Gly274=), p.(=) - - - benign, VUS g.231042C>T g.230927C>T SDHA(NM_004168.3):c.822C>T (p.G274=), c.[822C>T];[=] - SDHA_000051 VKGL data sharing initiative Nederland, VUS PubMed: Rattenberry - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_VUmc, Jean-Pierre Bayley, VKGL-NL_Nijmegen
-?/. 1 - c.831G>A r.(?) p.(Thr277=) - - - - g.231051G>A - - - SDHA_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.889C>T r.(?) p.(Pro297Ser) - - - VUS g.231109C>T g.230994C>T - - SDHA_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.891T>C r.(?) p.(Pro297=) - - - benign g.231111T>C g.230996T>C SDHA(NM_004168.3):c.891T>C (p.P297=) - SDHA_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-/. 1 - c.896-20A>G r.(=) p.(=) - - - benign g.233572A>G g.233457A>G - - SDHA_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 8 c.923C>T r.(?) p.(Thr308Met) - - - VUS g.233619C>T g.233504C>T c.[923C>T];[=] - SDHA_000052 VUS PubMed: Rattenberry - - Unknown - - - - - Jean-Pierre Bayley
-?/. 1 - c.955A>C r.(?) p.(Ile319Leu) - - - likely benign g.233651A>C g.233536A>C SDHA(NM_004168.3):c.955A>C (p.I319L) - SDHA_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., ?/., -?/. 3 8 c.969C>T r.(?), r.(=) p.(Gly323=), p.(=) - - - benign, VUS, likely benign g.233665C>T g.233550C>T SDHA(NM_004168.3):c.969C>T (p.G323=) - SDHA_000053 VKGL data sharing initiative Nederland, No LOH PubMed: Dénes - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_VUmc, Jean-Pierre Bayley, VKGL-NL_Nijmegen
+/. 1 - c.985C>T r.(?) p.(Arg329Ter) - - - pathogenic g.233681C>T g.233566C>T - - SDHA_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 8 c.988_989dup r.(?) p.(Ala331Thrfs*18) - - - VUS g.233684_233685dup g.233569_233570dup c.989_990insTA - SDHA_000026 Compound heterozygous PubMed: Gill - - Unknown - - - - - Jean-Pierre Bayley
?/. 1 - c.991G>A r.(?) p.(Ala331Thr) - - - VUS g.233687G>A g.233572G>A SDHA(NM_004168.3):c.991G>A (p.A331T) - SDHA_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/., ?/. 2 8 c.1002G>A r.(?), r.(=) p.(Ala334=), p.(=) - - - likely benign, VUS g.233698G>A g.233583G>A SDHA(NM_004168.3):c.1002G>A (p.A334=), c.[1002G>A];[=] - SDHA_000027 VKGL data sharing initiative Nederland, VUS PubMed: Rattenberry - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Rotterdam, Jean-Pierre Bayley
-/. 1 - c.1038C>G r.(?) p.(Ser346=) - - - benign g.233734C>G g.233619C>G - - SDHA_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 8 c.1046_1047del r.(?) p.(Leu349Argfs*11) - - - VUS g.233742_233743del g.233627_233628del - - SDHA_000028 - PubMed: Pantaleo - - Unknown - - - - - Jean-Pierre Bayley
?/. 1 - c.1055G>A r.(?) p.(Arg352Gln) - - - VUS g.233751G>A g.233636G>A SDHA(NM_004168.3):c.1055G>A (p.R352Q) - SDHA_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/? 2 8i c.1065-3C>A r.1065_1260del p.(=) 0 - - pathogenic g.235256C>A g.235141C>A - - SDHA_000021 (exon 9 skipping) - - - Unknown - - - - - Herma Renkema
-?/. 2 - c.1074C>T r.(?) p.(Gly358=) - - - likely benign g.235268C>T g.235153C>T SDHA(NM_004168.3):c.1074C>T (p.G358=) - SDHA_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Groningen
-?/. 1 - c.1115C>G r.(?) p.(Pro372Arg) - - - likely benign g.235309C>G g.235194C>G - - SDHA_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 1 9 c.1151C>G r.(?) p.(Ser384*) - - - likely pathogenic g.235345C>G g.235230C>G - - SDHA_000015 - PubMed: Pantaleo - - Germline - - - - - Jean-Pierre Bayley
-/. 1 - c.1170C>T r.(?) p.(Phe390=) - - - benign g.235364C>T g.235249C>T - - SDHA_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1250A>G r.(?) p.(Tyr417Cys) - - - VUS g.235444A>G g.235329A>G - - SDHA_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/? 1 9 c.1255G>A r.(?) p.(Gly419Arg) - - - VUS g.235449G>A g.235334G>A G419R - SDHA_000018 (Somatic mutation?) PubMed: Pantaleo - - Somatic - - - - - Jean-Pierre Bayley
-?/. 1 - c.1260+12G>A r.(=) p.(=) - - - likely benign g.235466G>A g.235351G>A SDHA(NM_004168.3):c.1260+12G>A - SDHA_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 10 c.1273G>A r.(?) p.(Val425Met) - - - VUS g.236555G>A g.236440G>A c.[1273G>A];[=] - SDHA_000029 VUS PubMed: Rattenberry - - Unknown - - - - - Jean-Pierre Bayley
-?/. 1 - c.1274T>G r.(?) p.(Val425Gly) - - - likely benign g.236556T>G g.236441T>G SDHA(NM_004168.3):c.1274T>G (p.V425G) - SDHA_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 2 - c.1305G>T r.(?) p.(Leu435=) - - - benign g.236587G>T g.236472G>T SDHA(NM_004168.3):c.1305G>T (p.L435=) - SDHA_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Nijmegen
?/. 2 10 c.1334C>T r.(?) p.(Ser445Leu) - - - VUS g.236616C>T g.236501C>T - - SDHA_000023 Somatic PubMed: Miettinen - - Germline, Somatic - - - - - Andreas Laner, Jean-Pierre Bayley
-?/. 1 - c.1335G>T r.(?) p.(Ser445=) - - - likely benign g.236617G>T g.236502G>T SDHA(NM_004168.2):c.1335G>T (p.(=)) - SDHA_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1337T>C r.(?) p.(Val446Ala) - - - VUS g.236619T>C g.236504T>C SDHA(NM_004168.2):c.1337T>C (p.(Val446Ala)) - SDHA_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 10 c.1338del r.(?) p.(His447Metfs*23) - - - VUS g.236620del g.236505del c.[1338delA]; [=] - SDHA_000030 VUS PubMed: Rattenberry - - Unknown - - - - - Jean-Pierre Bayley
?/. 1 10 c.1340A>G r.(?) p.(His447Arg) - - - VUS g.236622A>G g.236507A>G - - SDHA_000031 - PubMed: Mason - - Unknown - - - - - Jean-Pierre Bayley
?/? 1 10 c.1351C>T r.(?) p.(Arg451Cys) 0 - - VUS g.236633C>T g.236518C>T C-to-T transition at nucleotide 1373; Arg408Cys in mature protein - SDHA_000002 - PubMed: Birch-Machin - - Unknown - - -BslI - - Tonino Ercolino
?/. 1 10 c.1357G>A r.(?) p.(Gly453Arg) - - - VUS g.236639G>A g.236524G>A p.(Gly453Arg) - SDHA_000032 - PubMed: Belinsky - - Somatic - - - - - Jean-Pierre Bayley
?/. 1 10 c.1361C>A r.(?) p.(Ala454Glu) - - - VUS g.236643C>A g.236528C>A - - SDHA_000033 Somatic PubMed: Miettinen - - Somatic - - - - - Jean-Pierre Bayley
-/. 1 - c.1367C>T r.(?) p.(Ser456Leu) - - - benign g.236649C>T g.236534C>T SDHA(NM_004168.3):c.1367C>T (p.S456L) - SDHA_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 3 - c.1368G>A r.(?) p.(Ser456=) - - - likely benign g.236650G>A g.236535G>A SDHA(NM_004168.3):c.1368G>A (p.S456=) - SDHA_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen, VKGL-NL_Rotterdam
-/., -?/. 2 - c.1396G>A r.(?) p.(Ala466Thr) - - - benign g.236678G>A g.236563G>A SDHA(NM_004168.2):c.1396G>A (p.(Ala466Thr)), SDHA(NM_004168.3):c.1396G>A (p.A466T) - SDHA_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Leiden
-?/. 1 - c.1410C>T r.(?) p.(Ser470=) - - - likely benign g.236692C>T g.236577C>T - - SDHA_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 2 - c.1413C>T r.(?) p.(Ile471=) - - - likely benign g.236695C>T g.236580C>T SDHA(NM_004168.3):c.1413C>T (p.I471=) - SDHA_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/., ?/. 2 - c.1414G>A r.(?) p.(Glu472Lys) - - - likely benign, VUS g.236696G>A g.236581G>A SDHA(NM_004168.3):c.1414G>A (p.E472K) - SDHA_000024 VKGL data sharing initiative Nederland - - rs143798161 CLASSIFICATION record, Germline - - - - - VKGL-NL_Utrecht, Andreas Laner
-?/. 1 - c.1415A>C r.(?) p.(Glu472Ala) - - - likely benign g.236697A>C g.236582A>C SDHA(NM_004168.3):c.1415A>C (p.E472A) - SDHA_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1432+20G>C r.(=) p.(=) - - - likely benign g.236734G>C g.236619G>C SDHA(NM_004168.3):c.1432+20G>C - SDHA_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.1432+39C>T r.(=) p.(=) - - - benign g.236753C>T g.236638C>T - - SDHA_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1432+46C>A r.(=) p.(=) - - - benign g.236760C>A g.236645C>A - - SDHA_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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