All transcript 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.

239 entries on 3 pages. Showing entries 1 - 100.
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Effect     

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     
-/. - c.-115T>C r.(?) p.(=) - - - benign g.218356T>C g.218241T>C - - SDHA_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.-80C>T r.(?) p.(=) - - - likely benign g.218391C>T g.218276C>T - - SDHA_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.-27C>G r.(?) p.(=) - - - likely benign g.218444C>G g.218329C>G - - SDHA_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - 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 - - - 0 - VKGL-NL_Nijmegen
-?/. - 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_Groningen
-/. - c.-4A>G r.(?) p.(=) - - - benign g.218467A>G g.218352A>G - - SDHA_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/? 1 c.1A>C r.(?) p.(Met1?) 0 - - VUS g.218471A>C g.218356A>C A25 C - SDHA_000001 - PubMed: Parfait - - Germline - - + BslI, -NlaIII 0 - Tonino Ercolino
-?/. - 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
-?/. - 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 - - - 0 - VKGL-NL_VUmc
+/? 1i c.64-2A>G r.[64_73del, r.63_64ins64-54_64-1;64-2a>g] p.(=) - - - pathogenic g.223595A>G g.223480A>G - - SDHA_000022 - - - - Unknown - - - 0 - Herma Renkema
+/. - c.64-2A>G r.spl? 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 - - - 0 - VKGL-NL_Groningen
+/. - c.64-2A>G r.spl? 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 - - - - - VKGL-NL_Nijmegen
+?/+? 2 c.91C>T r.(?) p.(Arg31*) - - - likely pathogenic g.223624C>T g.223509C>T - - SDHA_000013 relatively common mutation -prob. v. low penetrance PubMed: Korpershoek, PubMed: Pantaleo - - Germline - 0.3% - 0 - Jean-Pierre Bayley
+?/+? 2 c.91C>T r.(?) p.(Arg31*) 0 - - likely pathogenic g.223624C>T g.223509C>T - - SDHA_000013 - PubMed: Pantaleo - - Somatic - - - 0 - Jean-Pierre Bayley
?/? 2 c.91C>T r.91c>u p.(Arg31*) - - - VUS g.223624C>T g.223509C>T - - SDHA_000013 relatively common mutation -prob. v. low penetrance - - - Unknown - 0.3% - 0 - Herma Renkema
+?/. 2 c.91C>T r.(?) p.(Arg31*) - - - likely pathogenic g.223624C>T g.223509C>T c.[91C>T]; [=] - SDHA_000013 - PubMed: Rattenberry - - Unknown - - - 0 - Jean-Pierre Bayley
+?/+? 2 c.91C>T r.(?) p.(Arg31*) - - - likely pathogenic g.223624C>T g.223509C>T - - SDHA_000013 SDHB IHC Neg, SDHA IHC Neg. Carney Triad PubMed: Boikos - - Unknown ? - - 0 - Jean-Pierre Bayley
+/. - c.91C>T r.(?) p.(Arg31Ter) - - - pathogenic g.223624C>T g.223509C>T SDHA(NM_004168.2):c.91C>T (p.(Arg31Ter)), SDHA(NM_004168.3):c.91C>T (p.R31*) - SDHA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. - c.91C>T r.(?) p.(Arg31Ter) - - - pathogenic g.223624C>T g.223509C>T SDHA(NM_004168.2):c.91C>T (p.(Arg31Ter)), SDHA(NM_004168.3):c.91C>T (p.R31*) - SDHA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.91C>T r.(?) p.(Arg31Ter) - - - pathogenic g.223624C>T g.223509C>T SDHA(NM_004168.2):c.91C>T (p.(Arg31Ter)), SDHA(NM_004168.3):c.91C>T (p.R31*) - SDHA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.91C>T r.(?) p.(Arg31Ter) - - - pathogenic g.223624C>T g.223509C>T SDHA(NM_004168.2):c.91C>T (p.(Arg31Ter)), SDHA(NM_004168.3):c.91C>T (p.R31*) - SDHA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.91C>T r.(?) p.(Arg31*) - nonsense - pathogenic g.223624C>T g.223509C>T - - SDHA_000013 - - - - Germline - - - 0 - James Whitworth
+/. - c.91C>T r.(?) p.(Arg31*) - nonsense - pathogenic g.223624C>T g.223509C>T - - SDHA_000013 - - - - Germline - - - 0 - James Whitworth
+/. - c.91C>T r.(?) p.(Arg31Ter) - - - pathogenic g.223624C>T g.223509C>T SDHA(NM_004168.2):c.91C>T (p.(Arg31Ter)), SDHA(NM_004168.3):c.91C>T (p.R31*) - SDHA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.91C>T r.(?) p.(Arg31*) - - ACMG pathogenic g.223624C>T g.223509C>T - - SDHA_000013 ACMG: PVS1, PM2, PM3, PP1 class 5 - - rs142441643 Germline - - - 0 - Andreas Laner
+/. - c.91C>T r.(?) p.(Arg31*) - - - pathogenic g.223624C>T g.223509C>T - - SDHA_000013 - - - rs142441643 Germline - - - 0 - Andreas Laner
?/. - 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
-/- 2 c.113A>T r.(?) p.(Asp38Val) - - - benign g.223646A>T g.223531A>T p.D38V - SDHA_000009 - PubMed: Bonache - - Germline - 6.5% - 0 - Jean-Pierre Bayley
-/. - c.113A>T r.(?) p.(Asp38Val) - - - benign g.223646A>T g.223531A>T SDHA(NM_004168.3):c.113A>T (p.D38V) - SDHA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.113A>T r.(?) p.(Asp38Val) - - - benign g.223646A>T g.223531A>T SDHA(NM_004168.3):c.113A>T (p.D38V) - SDHA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. 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 - - - 0 - Jean-Pierre Bayley
-?/. - c.133G>A r.(?) p.(Ala45Thr) - - - likely benign g.223666G>A g.223551G>A SDHA(NM_004168.3):c.133G>A (p.A45T) - SDHA_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.133G>A r.(?) p.(Ala45Thr) - - - 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_Groningen
-?/. - c.133G>A r.(?) p.(Ala45Thr) - - - likely benign 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
?/. 2 c.136A>G r.(?) p.(Lys46Glu) - - - VUS g.223669A>G g.223554A>G c.[136A>G]; [=] - SDHA_000054 VUS PubMed: Rattenberry - - Unknown - - - 0 - Jean-Pierre Bayley
+?/. - 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 - - - 0 - VKGL-NL_VUmc
?/. - c.163T>C r.(?) p.(Tyr55His) - - - VUS g.224487T>C g.224372T>C SDHA(NM_004168.2):c.163T>C (p.(Tyr55His)) - SDHA_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.163T>C r.(?) p.(Tyr55His) - - - likely benign g.224487T>C g.224372T>C - - SDHA_000065 5 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs142926807 Germline - 5/2795 individuals - 0 - Mohammed Faruq
?/. 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 - - - 0 - Jean-Pierre Bayley
?/. 3 c.223C>T r.(?) p.(Arg75*) - - - VUS g.224547C>T g.224432C>T - - SDHA_000056 - PubMed: Welander, PubMed: Welander - - Unknown - - - 0 - Jean-Pierre Bayley
?/. - 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 - - - 0 - VKGL-NL_Groningen
?/? 3 c.248C>T r.(?) p.(Ala83Val) 0 - - VUS g.224572C>T g.224457C>T A83V - SDHA_000006 - PubMed: Horvath - - Germline - - - 0 - Jean-Pierre Bayley
+/? 3 c.248C>T r.247_312del p.(Ala83Val) - - - pathogenic g.224572C>T g.224457C>T A83V - SDHA_000006 - - - - Unknown - - - 0 - Herma Renkema
+?/+? 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 - - - 0 - Jean-Pierre Bayley
-/. - c.309A>G r.(?) p.(Ala103=) - - - benign g.224633A>G g.224518A>G - - SDHA_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - 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 - - - 0 - VKGL-NL_Utrecht
-?/. - 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 - - - 0 - VKGL-NL_Groningen
-?/. - 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 - - - 0 - VKGL-NL_VUmc
-?/. - 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 - - - 0 - VKGL-NL_Nijmegen
-/. - 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 - - - 0 - VKGL-NL_Groningen
?/? 4 c.356G>A r.(?) p.(Trp119*) - - - VUS g.225577G>A g.225462G>A W119X - SDHA_000007 - PubMed: Horvath - - Unknown - - - 0 - Jean-Pierre Bayley
+/? 4 c.356G>A r.(?) p.(Trp119*) 0.16 - - pathogenic g.225577G>A g.225462G>A W119X - SDHA_000007 - - - - Unknown - - - 0 - Herma Renkema
?/. 4 c.394T>C r.(?) p.(Trp132Arg) - - - VUS g.225615T>C g.225500T>C - - SDHA_000057 Highly conserved nucleotide (phyloP: 0.96 (K5.2; 1.1)), Highly conserved amino acid, up to S. cerevisiae (considering 13 species) PubMed: von Dobschuetz - - Unknown - - - 0 - Jean-Pierre Bayley
-?/. - 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 - - - 0 - VKGL-NL_Leiden
-?/. - c.456+20G>C r.(=) p.(=) - - - likely benign g.225697G>C g.225582G>C SDHA(NM_004168.3):c.456+20G>C - SDHA_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.456+20G>C r.(=) p.(=) - - - benign g.225697G>C g.225582G>C SDHA(NM_004168.3):c.456+20G>C - SDHA_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.456+20G>C r.(=) p.(=) - - - benign g.225697G>C g.225582G>C SDHA(NM_004168.3):c.456+20G>C - SDHA_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. 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 - - - 0 - Jean-Pierre Bayley
?/. 5 c.484A>T r.(?) p.(Arg162*) - - - VUS g.226025A>T g.225910A>T - - SDHA_000059 - PubMed: Mason - - Somatic - - - 0 - Jean-Pierre Bayley
+?/+? 5 c.511C>T r.(?) p.(Arg171Cys) - - - likely pathogenic g.226052C>T g.225937C>T R171C - SDHA_000017 (Somatic mutation?) PubMed: Pantaleo - - Somatic - - - 0 - Jean-Pierre Bayley
?/. 5 c.511C>T r.(?) p.(Arg171Cys) - - - VUS g.226052C>T g.225937C>T - - SDHA_000017 - PubMed: Pantaleo - - Unknown - - - 0 - Jean-Pierre Bayley
?/. 5 c.549C>T r.(=) p.(=) - - - VUS g.226090C>T g.225975C>T c.[549C>T]; [=] - SDHA_000045 VUS PubMed: Rattenberry - - Unknown - - - 0 - Jean-Pierre Bayley
-/. - c.549C>T r.(?) p.(Gly183=) - - - benign g.226090C>T g.225975C>T SDHA(NM_004168.3):c.549C>T (p.G183=) - SDHA_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.549C>T r.(?) p.(Gly183=) - - - benign g.226090C>T g.225975C>T SDHA(NM_004168.3):c.549C>T (p.G183=) - SDHA_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.549C>T r.(?) p.(Gly183=) - - - benign g.226090C>T g.225975C>T SDHA(NM_004168.3):c.549C>T (p.G183=) - SDHA_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.550G>A r.(?) p.(Gly184Arg) - - - benign 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 - - - 0 - VKGL-NL_VUmc
?/. - c.550G>A r.(?) p.(Gly184Arg) - - - 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 - - - 0 - VKGL-NL_Leiden
-/. - c.550G>A r.(?) p.(Gly184Arg) - - - benign 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_Rotterdam
?/. 5 c.562C>T r.(?) p.(Arg188Trp) - - - VUS g.226103C>T g.225988C>T - - SDHA_000046 - PubMed: Miettinen - - Unknown - - - 0 - Jean-Pierre Bayley
+/? 5 c.565T>G r.565u>g p.(Cys189Gly) - - - pathogenic g.226106T>G g.225991T>G - - SDHA_000020 - - - - Unknown - - - 0 - Herma Renkema
-/. - 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 - - - 0 - VKGL-NL_Nijmegen
-/. - 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
-/. - 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
-?/. - 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 - - - 0 - VKGL-NL_Utrecht
-/. - c.622-13del r.(=) p.(=) - - - benign g.228287del g.228172del SDHA(NM_004168.3):c.622-13delT - SDHA_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.622-13del r.(=) p.(=) - - - likely benign g.228287del g.228172del SDHA(NM_004168.3):c.622-13delT - SDHA_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - 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 - - - 0 - VKGL-NL_Groningen
-?/. - 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
?/. 6 c.629G>A r.(?) p.(Arg210Gln) - - - VUS g.228307G>A g.228192G>A - - SDHA_000047 - PubMed: Welander - - Unknown - - - 0 - Jean-Pierre Bayley
?/. - 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
-/. - c.684T>C r.(?) p.(Asn228=) - - - benign g.228362T>C g.228247T>C - - SDHA_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.692G>T r.(?) p.(Cys231Phe) - - - VUS g.228370G>T - SDHA(NM_004168.3):c.692G>T (p.C231F) - SDHA_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - 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
-?/. - 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 - - - 0 - VKGL-NL_Groningen
-?/. - 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 - - - 0 - VKGL-NL_VUmc
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - 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_Nijmegen
?/. 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 - - - 0 - Jean-Pierre Bayley
?/. - 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 - - - 0 - VKGL-NL_Rotterdam
?/. 6 c.767C>T r.(?) p.(Thr256Ile) - - - VUS g.228445C>T g.228330C>T - - SDHA_000049 - PubMed: Miettinen - - Unknown - - - 0 - Jean-Pierre Bayley
-?/. - 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 - - - 0 - VKGL-NL_VUmc
-/. - 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 - - - 0 - VKGL-NL_Groningen
-/. - 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 - - - 0 - VKGL-NL_Nijmegen
-?/. - c.801G>A r.(?) p.(Thr267=) - - - likely benign g.231021G>A g.230906G>A - - SDHA_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - 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
?/. 7 c.818C>T r.(?) p.(Thr273Ile) - - - VUS g.231038C>T g.230923C>T p.(Thr273Ile) - SDHA_000050 - PubMed: Belinsky, PubMed: Miettinen - - Somatic - - - 0 - Jean-Pierre Bayley
?/. - c.818C>T r.(?) p.(Thr273Ile) - - - VUS g.231038C>T g.230923C>T - - SDHA_000050 conflicting interpretations of pathogenicity; 11 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs587781720 Germline - 11/2795 individuals - 0 - Mohammed Faruq
?/. 7 c.822C>T r.(=) p.(=) - - - VUS g.231042C>T g.230927C>T c.[822C>T];[=] - SDHA_000051 VUS PubMed: Rattenberry - - Unknown - - - 0 - Jean-Pierre Bayley
-/. - c.822C>T r.(?) p.(Gly274=) - - - benign g.231042C>T g.230927C>T SDHA(NM_004168.3):c.822C>T (p.G274=) - SDHA_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.822C>T r.(?) p.(Gly274=) - - - benign g.231042C>T g.230927C>T SDHA(NM_004168.3):c.822C>T (p.G274=) - SDHA_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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