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.

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

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predict/SIFT     

Predicted     

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 benign r.(=) p.(=) - - g.218356T>C - SDHA:NM_004168.2:c.-115T>C (=) - SDHA_000110 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.-84dup benign r.(=) p.(=) - - g.218387dup - SDHA:NM_004168.2:c.-84dup (=) - SDHA_000111 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-80C>T likely benign r.(=) p.(=) - - g.218391C>T - SDHA:NM_004168.2:c.-80C>T (?) - SDHA_000112 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-27C>G likely benign r.(=) p.(=) - - g.218444C>G - SDHA:NM_004168.2:c.-27C>G (?) - SDHA_000113 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-7A>C likely benign r.(=) p.(=) - - g.218464A>C - SDHA:NM_004168.2:c.-7A>C (?) - SDHA_000114 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.-4A>G benign r.(=) p.(=) - - g.218467A>G - SDHA:NM_004168.3:c.-4A>G (?) - SDHA_000115 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/? 1 1 c.1A>C - r.? p.? 0 - g.218471A>C g.218356A>C A25 C - SDHA_000001 - PubMed: Parfait - - Germline - - + BslI, -NlaIII - - Tonino Ercolino
-?/. 2 - c.17G>A likely benign r.(?) p.(Gly6Asp) - - g.218487G>A - SDHA:c.17G>A (G6D), SDHA:NM_004168.2:c.17G>A, NM_145265.2:c.-290C>T - SDHA_000062 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Leiden
+/., +/? 2 1i c.64-2A>G pathogenic r.spl?, r.[64_73del, r.63_64ins64-54_64-1;64-2a>g] p.?, p.(=) - - g.223595A>G g.223480A>G SDHA:c.64-2A>G - SDHA_000022 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Groningen, Herma Renkema
+/., +?/., +?/+?, ?/? 8 2 c.91C>T pathogenic, likely pathogenic r.(?), r.91c>u p.(Arg31*) 0 - g.223624C>T g.223509C>T SDHA:NM_004168.2:c.91C>T (Arg31*), SDHA:c.91C>T (R31*), c.[91C>T]; [=] - SDHA_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked, 2 more items PubMed: Korpershoek, PubMed: Pantaleo, PubMed: Pantaleo, PubMed: Rattenberry, PubMed: Boikos - - CLASSIFICATION record, Germline, Somatic, Unknown ? 0.3% - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_Rotterdam, Jean-Pierre Bayley, Herma Renkema
-/., -/- 3 2 c.113A>T benign r.(?) p.(Asp38Val) - - g.223646A>T g.223531A>T SDHA:NM_004168.2:c.113A>T (Asp38Val), p.D38V, SDHA:c.113A>T (D38V) - SDHA_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Bonache - - CLASSIFICATION record, Germline - 6.5% - - - VKGL-NL_Nijmegen, Jean-Pierre Bayley, VKGL-NL_Utrecht
?/. 1 2 c.117del - r.(?) p.(Asn40Thrfs*18) - - g.223650del g.223535del c.G117G/del in exon 2 - SDHA_000060 compound heterozygous in patient PubMed: Ma - - Unknown - - - - - Jean-Pierre Bayley
-?/. 1 - c.133G>A likely benign r.(?) p.(Ala45Thr) - - g.223666G>A - SDHA:c.133G>A (A45T) - SDHA_000063 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 2 c.136A>G - r.(?) p.(Lys46Glu) - - g.223669A>G g.223554A>G c.[136A>G]; [=] - SDHA_000054 VUS PubMed: Rattenberry - - Unknown - - - - - Jean-Pierre Bayley
+?/. 1 - c.150+1G>A likely pathogenic r.spl? p.? - - g.223684G>A - SDHA:c.150+1G>A - SDHA_000064 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.150+232_150+237del benign r.(=) p.(=) - - g.223915_223920del - SDHA:NM_004168.2:c.150+232_150+237del (?) - SDHA_000116 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.163T>C VUS r.(?) p.(Tyr55His) - - g.224487T>C - SDHA:NM_004168.2:c.163T>C - SDHA_000065 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 3 c.221dup - r.(?) p.(Leu74Phefs*9) - - 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*) - - g.224547C>T g.224432C>T - - SDHA_000056 - PubMed: Welander, PubMed: Welander - - Unknown - - - - - Jean-Pierre Bayley
?/. 1 - c.224G>A VUS r.(?) p.(Arg75Gln) - - g.224548G>A - SDHA:c.224G>A (R75Q) - SDHA_000066 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/?, +/? 2 3 c.248C>T - r.(?), r.247_312del p.(Ala83Val) 0 - 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) - - g.224619C>T g.224504C>T - - SDHA_000061 SDHB IHC Neg, SDHA IHC Neg. Carney triad - - - Unknown - - - - - Jean-Pierre Bayley
+?/. 1 - c.304G>A likely pathogenic r.(?) p.(Ala102Thr) - - g.224628G>A - SDHA:NM_004168.2:c.304G>A - SDHA_000067 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.305C>T likely pathogenic r.(?) p.(Ala102Val) - - g.224629C>T - SDHA:NM_004168.2:c.305C>T - SDHA_000068 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.309A>G benign r.(=) p.(=) - - g.224633A>G - SDHA:NM_004168.2:c.309A>G (=) - SDHA_000117 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.312+20C>T benign r.(=) p.(=) - - g.224656C>T - SDHA:c.312+20C>T - SDHA_000069 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 3 - c.313-19G>T likely benign r.(=) p.(=) - - g.225515G>T - SDHA:c.313-19G>T, SDHA:NM_004168.2:c.313-19G>T (?) - SDHA_000070 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc, VKGL-NL_Nijmegen
-/. 1 - c.313-16T>G benign r.(=) p.(=) - - g.225518T>G - SDHA:c.313-16T>G - SDHA_000071 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/?, +/? 2 4 c.356G>A - r.(?) p.(Trp119*) 0.16 - 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) - - g.225615T>C g.225500T>C - - SDHA_000057 1 more item PubMed: von Dobschuetz - - Unknown - - - - - Jean-Pierre Bayley
-?/. 1 - c.456+6G>T likely benign r.(=) p.(=) - - g.225683G>T - SDHA:NM_004168.2:c.456+6G>T - SDHA_000072 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., -/. 3 - c.456+20G>C likely benign, benign r.(=) p.(=) - - g.225697G>C - SDHA:c.456+20G>C, SDHA:NM_004168.2:c.456+20G>C (?) - SDHA_000073 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc, VKGL-NL_Nijmegen
?/. 1 4i_5 c.457-2_457del - r.spl? p.? - - g.225996_225998delAGC 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*) - - g.226025A>T g.225910A>T - - SDHA_000059 - PubMed: Mason - - Somatic - - - - - Jean-Pierre Bayley
+?/+?, ?/. 2 5 c.511C>T - r.(?) p.(Arg171Cys) - - 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 benign r.(=) p.(=) - - g.226090C>T g.225975C>T SDHA:c.549C>T (=), c.[549C>T]; [=], SDHA:NM_004168.2:c.549C>T (=) - SDHA_000045 VKGL data sharing initiative Nederland; correct HGVS to be checked, VUS PubMed: Rattenberry - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_VUmc, VKGL-NL_Rotterdam, Jean-Pierre Bayley, VKGL-NL_Nijmegen
-/., +?/. 2 - c.550G>A benign, likely pathogenic r.(?) p.(Gly184Arg) - - g.226091G>A - SDHA:c.550G>A (G184R), SDHA:NM_004168.2:c.550G>A - SDHA_000074 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Leiden
?/. 1 5 c.562C>T - r.(?) p.(Arg188Trp) - - g.226103C>T g.225988C>T - - SDHA_000046 - PubMed: Miettinen - - Unknown - - - - - Jean-Pierre Bayley
+/? 1 5 c.565T>G - r.565u>g p.(Cys189Gly) - - g.226106T>G g.225991T>G - - SDHA_000020 - - - - Unknown - - - - - Herma Renkema
-/. 1 - c.619A>C benign r.(=) p.(=) - - g.226160A>C - SDHA:NM_004168.2:c.619A>C (=) - SDHA_000118 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.622-31C>T likely benign r.(=) p.(=) - - g.228269C>T - SDHA:c.622-31C>T - SDHA_000075 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.622-21del likely benign r.(=) p.(=) - - g.228279del - SDHA:c.622-21delT - SDHA_000076 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 2 - c.622-13del benign r.(=) p.(=) - - g.228287del - SDHA:c.622-13delT, SDHA:NM_004168.2:c.622-13del (=) - SDHA_000077 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.622-8T>C likely benign r.(=) p.(=) - - g.228292T>C - SDHA:c.622-8T>C - SDHA_000078 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 6 c.629G>A - r.(?) p.(Arg210Gln) - - g.228307G>A g.228192G>A - - SDHA_000047 - PubMed: Welander - - Unknown - - - - - Jean-Pierre Bayley
-/. 1 - c.684T>C benign r.(=) p.(=) - - g.228362T>C - SDHA:NM_004168.2:c.684T>C (=) - SDHA_000119 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.692G>T VUS r.(?) p.(Cys231Phe) - - g.228370G>T - SDHA:NM_004168.2:c.692G>T - SDHA_000079 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 3 - c.723C>T likely benign r.(=) p.(=) - - g.228401C>T - SDHA:c.723C>T (=) - SDHA_000080 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc, VKGL-NL_Rotterdam
?/. 1 6 c.724_735del - r.(?) p.(Gly242_His245del) - - g.228402_228413del g.228287_228298del c.725_736del - SDHA_000048 Compound heterozygous PubMed: Gill - - Unknown - - - - - Jean-Pierre Bayley
?/. 1 - c.739A>G VUS r.(?) p.(Ile247Val) - - g.228417A>G - SDHA:c.739A>G (I247V) - SDHA_000081 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 6 c.767C>T - r.(?) p.(Thr256Ile) - - g.228445C>T g.228330C>T - - SDHA_000049 - PubMed: Miettinen - - Unknown - - - - - Jean-Pierre Bayley
-?/. 1 - c.770+17_770+21del likely benign r.(=) p.(=) - - g.228465_228469del - SDHA:c.770+17_770+21delTACTT - SDHA_000082 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 2 - c.771-11A>G benign r.(=) p.(=) - - g.230980A>G - SDHA:NM_004168.2:c.771-11A>G (?), SDHA:c.771-11A>G - SDHA_000083 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
-?/. 1 - c.801G>A likely benign r.(=) p.(=) - - g.231021G>A - SDHA:NM_004168.2:c.801G>A (= (Thr267Thr) - SDHA_000120 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 7 c.818C>T - r.(?) p.(Thr273Ile) - - g.231038C>T g.230923C>T p.(Thr273Ile) - SDHA_000050 - PubMed: Belinsky, PubMed: Miettinen - - Somatic - - - - - Jean-Pierre Bayley
-/., ?/. 3 7 c.822C>T benign r.(=) p.(=) - - g.231042C>T g.230927C>T SDHA:c.822C>T (=), c.[822C>T];[=], SDHA:NM_004628.2:c.822C>T (=) - SDHA_000051 VKGL data sharing initiative Nederland; correct HGVS to be checked, VUS PubMed: Rattenberry - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_VUmc, Jean-Pierre Bayley, VKGL-NL_Nijmegen
?/. 1 - c.889C>T VUS r.(?) p.(Pro297Ser) - - g.231109C>T - SDHA:NM_004168.2:c.889C>T (Pro297Ser) - SDHA_000121 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.891T>C benign r.(=) p.(=) - - g.231111T>C - SDHA:c.891T>C (=), SDHA:NM_004168.2:c.891T>C (=) - SDHA_000084 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-/. 1 - c.896-20A>G benign r.(=) p.(=) - - g.233572A>G - SDHA:NM_004168.2:c.896-20A>G (=) - SDHA_000122 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 8 c.923C>T - r.(?) p.(Thr308Met) - - g.233619C>T g.233504C>T c.[923C>T];[=] - SDHA_000052 VUS PubMed: Rattenberry - - Unknown - - - - - Jean-Pierre Bayley
-?/. 1 - c.955A>C likely benign r.(?) p.(Ile319Leu) - - g.233651A>C - SDHA:c.955A>C (I319L) - SDHA_000085 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., ?/., -?/. 3 8 c.969C>T benign, likely benign r.(=) p.(=) - - g.233665C>T g.233550C>T SDHA:c.969C>T (=), SDHA:NM_004168.3:c.969C>T (=) - SDHA_000053 VKGL data sharing initiative Nederland; correct HGVS to be checked, No LOH PubMed: Dénes - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_VUmc, Jean-Pierre Bayley, VKGL-NL_Nijmegen
+/. 1 - c.985C>T pathogenic r.(?) p.(Arg329*) - - g.233681C>T - SDHA:NM_004168.2:c.985C>T (Arg329*) - SDHA_000123 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 8 c.988_989dup - r.(?) p.(Ala331Thrfs*18) - - g.233684_233685dup g.233569_233570dup c.989_990insTA - SDHA_000026 Compound heterozygous PubMed: Gill - - Unknown - - - - - Jean-Pierre Bayley
?/. 1 - c.991G>A VUS r.(?) p.(Ala331Thr) - - g.233687G>A - SDHA:c.991G>A (A331T) - SDHA_000086 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 8 c.1002G>A - r.(=) p.(=) - - g.233698G>A g.233583G>A c.[1002G>A];[=] - SDHA_000027 VUS PubMed: Rattenberry - - Unknown - - - - - Jean-Pierre Bayley
-/. 1 - c.1038C>G benign r.(=) p.(=) - - g.233734C>G - SDHA:NM_004168.2:c.1038C>G (=) - SDHA_000124 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 8 c.1046_1047del - r.(?) p.(Leu349Argfs*11) - - g.233742_233743delTG g.233627_233628del - - SDHA_000028 - PubMed: Pantaleo - - Unknown - - - - - Jean-Pierre Bayley
+/? 2 8i c.1065-3C>A - r.1065_1260del p.(=) 0 - g.235256C>A g.235141C>A - - SDHA_000021 (exon 9 skipping) - - - Unknown - - - - - Herma Renkema
-?/. 1 - c.1074C>T likely benign r.(=) p.(=) - - g.235268C>T - SDHA:c.1074C>T (=) - SDHA_000087 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/+? 1 9 c.1151C>G - r.(?) p.(Ser384*) - - g.235345C>G g.235230C>G - - SDHA_000015 - PubMed: Pantaleo - - Germline - - - - - Jean-Pierre Bayley
-/. 1 - c.1170C>T benign r.(=) p.(=) - - g.235364C>T - SDHA:NM_004168.2:c.1170C>T (=) - SDHA_000125 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1250A>G VUS r.(?) p.(Tyr417Cys) - - g.235444A>G - SDHA:NM_004168.3:c.1250A>G (Tyr417Cys) - SDHA_000126 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/? 1 9 c.1255G>A - r.(?) p.(Gly419Arg) - - g.235449G>A g.235334G>A G419R - SDHA_000018 (Somatic mutation?) PubMed: Pantaleo - - Somatic - - - - - Jean-Pierre Bayley
-?/. 1 - c.1260+12G>A likely benign r.(=) p.(=) - - g.235466G>A - SDHA:c.1260+12G>A - SDHA_000088 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 10 c.1273G>A - r.(?) p.(Val425Met) - - g.236555G>A g.236440G>A c.[1273G>A];[=] - SDHA_000029 VUS PubMed: Rattenberry - - Unknown - - - - - Jean-Pierre Bayley
-?/. 1 - c.1274T>G likely benign r.(?) p.(Val425Gly) - - g.236556T>G - SDHA:c.1274T>G (V425G) - SDHA_000089 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 2 - c.1305G>T benign r.(=) p.(=) - - g.236587G>T - SDHA:c.1305G>T (=), SDHA: (=) - SDHA_000090 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Nijmegen
?/. 2 10 c.1334C>T - r.(?) p.(Ser445Leu) - - g.236616C>T g.236501C>T - - SDHA_000023 Somatic PubMed: Miettinen - - Germline, Somatic - - - - - Andreas Laner, Jean-Pierre Bayley
?/. 1 10 c.1338del - r.(?) p.(His447Metfs*23) - - g.236620delA g.236505del c.[1338delA]; [=] - SDHA_000030 VUS PubMed: Rattenberry - - Unknown - - - - - Jean-Pierre Bayley
?/. 1 10 c.1340A>G - r.(?) p.(His447Arg) - - g.236622A>G g.236507A>G - - SDHA_000031 - PubMed: Mason - - Unknown - - - - - Jean-Pierre Bayley
?/? 1 10 c.1351C>T - r.(?) p.(Arg451Cys) 0 - 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) - - g.236639G>A g.236524G>A p.(Gly453Arg) - SDHA_000032 - PubMed: Belinsky - - Somatic - - - - - Jean-Pierre Bayley
?/. 1 10 c.1361C>A - r.(?) p.(Ala454Glu) - - g.236643C>A g.236528C>A - - SDHA_000033 Somatic PubMed: Miettinen - - Somatic - - - - - Jean-Pierre Bayley
-/. 1 - c.1367C>T benign r.(?) p.(Ser456Leu) - - g.236649C>T - SDHA:c.1367C>T (S456L) - SDHA_000091 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 2 - c.1368G>A likely benign r.(=) p.(=) - - g.236650G>A - SDHA:NM_004168.2:c.1368G>A (=), SDHA:c.1368G>A (=) - SDHA_000092 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
-/. 1 - c.1396G>A benign r.(?) p.(Ala466Thr) - - g.236678G>A - SDHA:c.1396G>A (A466T) - SDHA_000093 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 2 - c.1413C>T likely benign r.(=) p.(=) - - g.236695C>T - SDHA:NM_004168.2:c.1413C>T (=), SDHA:c.1413C>T (=) - SDHA_000094 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/., ?/. 2 - c.1414G>A likely benign r.(?) p.(Glu472Lys) - - g.236696G>A g.236581G>A SDHA:c.1414G>A (E472K) - SDHA_000024 VKGL data sharing initiative Nederland; correct HGVS to be checked - - rs143798161 CLASSIFICATION record, Germline - - - - - VKGL-NL_Utrecht, Andreas Laner
-?/. 1 - c.1432+20G>C likely benign r.(=) p.(=) - - g.236734G>C - SDHA:c.1432+20G>C - SDHA_000095 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 11 c.1471G>T - r.(?) p.(Glu491*) - - g.240511G>T g.240396G>T - - SDHA_000034 LOH PubMed: Belinsky - - Unknown - - - - - Jean-Pierre Bayley
?/. 1 11 c.1523C>T - r.(?) p.(Thr508Ile) - - g.240563C>T g.240448C>T p.(Thr508Ile) - SDHA_000035 - PubMed: Alston - - Unknown - - - - - Jean-Pierre Bayley
?/. 1 11 c.1526C>T - r.(?) p.(Ser509Leu) - - g.240566C>T g.240451C>T p.(Ser509Leu) - SDHA_000036 - PubMed: Alston - - Unknown - - - - - Jean-Pierre Bayley
+?/. 1 - c.1535G>A likely pathogenic r.(?) p.(Arg512Gln) - - g.240575G>A - SDHA:c.1391G>A (R464Q) - SDHA_000096 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1551+16C>T likely benign r.(=) p.(=) - - g.240607C>T - SDHA:NM_004168.2:c.1551+16C>T (?) - SDHA_000128 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/? 1 12 c.1571C>T - r.(?) p.(Ala524Val) - - g.251126C>T g.251011C>T C1595 T; A524 V - SDHA_000003 - PubMed: Parfait - - Unknown - - -Fnu4 HI - - Tonino Ercolino
-?/. 1 - c.1611G>A likely benign r.(=) p.(=) - - g.251166G>A - SDHA:c.1611G>A (=) - SDHA_000097 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/., ?/. 4 12 c.1623G>A likely benign r.(=), r.(?) p.(=) - - g.251178G>A g.251063G>A SDHA:NM_004168.2:c.1623G>A (=), SDHA:c.1623G>A (=), c.[1623G>A];[=] - SDHA_000037 VKGL data sharing initiative Nederland; correct HGVS to be checked, VUS PubMed: Rattenberry - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen, VKGL-NL_VUmc, Jean-Pierre Bayley
+/., ?/? 3 12 c.1660C>T pathogenic r.(?) p.(Arg554Trp) 0 - g.251215C>T g.251100C>T SDHA:c.1660C>T (R554W), C>T transition at nucleotide 1684 - SDHA_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Bourgeron - - CLASSIFICATION record, Germline, Unknown - - -BslI, +BsrI - - VKGL-NL_Groningen, Tonino Ercolino
+?/. 1 - c.1663+3G>C likely pathogenic r.spl? p.? - - g.251221G>C - SDHA:NM_004168.2:c.1663+3G>C (?) - SDHA_000129 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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