Unique variants in gene SDHC

This database is one of the TCA cycle gene variant databases
Information The variants shown are described using the NM_003001.3 transcript reference sequence.

92 entries on 1 page. Showing entries 1 - 92.
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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.-4559G>A r.(?) p.(=) - - - pathogenic g.161279637G>A g.161309847G>A MPZ(NM_000530.6):c.59C>T (p.S20F) - MPZ_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.-4524G>A r.(?) p.(=) - - - benign g.161279672G>A g.161309882G>A MPZ(NM_000530.6):c.24C>T (p.S8=) - MPZ_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.-4485_-4480dup r.(?) p.(=) - - - likely benign g.161279711_161279716dup g.161309921_161309926dup MPZ(NM_000530.6):c.-10_-5dupTGCCCC - MPZ_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 1 c.-118_-117del r.(=) p.(=) - - - VUS g.161284078_161284079del g.161314288_161314289del c.[-118_-117delAG];[=] - SDHC_000062 VUS PubMed: Rattenberry - - Unknown - - - - - Jean-Pierre Bayley
-/. 1 - c.-38G>A r.(?) p.(=) - - - benign g.161284158G>A g.161314368G>A - - MPZ_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/+ 1 _1 c.(?_-30)_(20+1_21-1)del r.spl? p.? - - - VUS g.(?_161284166)_(161284216_161293403)del - exon 1 deletion - SDHC_000043 - PubMed: Burnichon - - Germline - - - - - Jean-Pierre Bayley
?/- 1 1 c.-12C>T r.(=) p.(=) - - - VUS g.161284184C>T g.161314394C>T Promoter SNP - SDHC_000005 Reported as Promoter Polymorphism PubMed: Bauters - - Germline - - - - - Jean-Pierre Bayley
?/+ 2 1 c.1A>G r.(?) p.(Met1?) - - - VUS g.161284196A>G g.161314406A>G 1A/G M1V/loss of start codon, p.Met1? - SDHC_000006 - PubMed: Schiavi, PubMed: Burnichon - - Germline - - - - - Jean-Pierre Bayley
+/+, +/? 2 1 c.2T>A r.(?) p.(Met1?) - - - pathogenic g.161284197T>A g.161314407T>A - - SDHC_000022 - PubMed: Neumann - - Germline, Unknown - - - - - Jean-Pierre Bayley, Rita Domingues
?/+ 1 1 c.3G>A r.(?) p.(Met1?) - - - VUS g.161284198G>A g.161314408G>A G-->A Start codon ATG - SDHC_000001 - PubMed: Niemann, PubMed: Neumann, PubMed: Malinoc - - Germline - - - - - Jean-Pierre Bayley
?/., +?/+? 2 1 c.6del r.(?) p.(Ala3Argfs*4) - - - VUS, likely pathogenic g.161284201del g.161314411del - - SDHC_000063 SDHB IHC Neg, SDHA IHC Pos. Carney triad with ganglioneuroma PubMed: Miettinen, PubMed: Boikos - - Unknown ? - - - - Jean-Pierre Bayley
?/., -?/. 2 1 c.8C>T r.(?) p.(Ala3Val) 0.03 missense - VUS, likely benign g.161284203C>T g.161314413C>T - - SDHC_000064 VKGL data sharing initiative Nederland PubMed: Lefebvre - - Unknown, CLASSIFICATION record - - - - - Jean-Pierre Bayley, VKGL-NL_Nijmegen
?/. 1 1i_3i c(.20+1_21-1)_(179+1_180-1)del r.(?) p.(Arg7_Tyr59del) - - - VUS g.(161284216_161293403)_(161298288_161310383)del - c.20-? 180-?del - SDHC_000065 Deletion of chromosome 3 & 4 PubMed: Else - - Unknown - - - - - Jean-Pierre Bayley
?/+? 1 1i c.20+2T>G r.spl? p.? - - - VUS g.161284217T>G g.161314427T>G IVS1+2A>C - SDHC_000016 - PubMed: Fakhry - - Germline - - - - - Jean-Pierre Bayley
-/., ?/- 2 1i c.20+11_20+12dup r.(=) p.(=) - - - benign, VUS g.161284226_161284227dup g.161314436_161314437dup SDHC(NM_003001.3):c.20+13delGinsTGG - SDHC_000032 VKGL data sharing initiative Nederland, Allelic freq controls 11/200; patients 63/420 PubMed: Burnichon - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Groningen, Jean-Pierre Bayley
-/- 1 1i c.20+13_20+14insTG r.(=) p.(=) - - - benign g.161284228_161284229insTG g.161314438_161314439insTG IVS1+13insTG - SDHC_000010 - Garcia-Rostan - - Germline - 12/192 (6.3%) - - - Jean-Pierre Bayley
-/., ?/-? 2 1i c.20+82T>C r.(=) p.(=) - - - benign, VUS g.161284297T>C g.161314507T>C - - SDHC_000033 VKGL data sharing initiative Nederland, Allelic freq: controls 10/156; patients 9/420 PubMed: Burnichon - rs11265589 CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Jean-Pierre Bayley
?/-? 1 1i c.21-96C>T r.(=) p.(=) - - - VUS g.161293308C>T g.161323518C>T - - SDHC_000036 Allelic freq: controls 17/200; patients 68/428 PubMed: Burnichon - rs4255403 Germline - - - - - Jean-Pierre Bayley
?/+? 1 1i c.21-2A>C r.spl? p.(=) - - - VUS g.161293402A>C g.161323612A>C Splicesite - SDHC_000035 - PubMed: Burnichon - - Germline - - - - - Jean-Pierre Bayley
+/+ 1 2 c.23dup r.(?) p.(His8Glnfs*12) - - - pathogenic g.161293406dup g.161323616dup - - SDHC_000023 - PubMed: Neumann - - Germline - - - - - Jean-Pierre Bayley
?/. 1 - c.31C>T r.(?) p.(Arg11Cys) - - - VUS g.161293414C>T g.161323624C>T SDHC(NM_003001.3):c.31C>T (p.R11C) - SDHC_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/+ 1 2 c.39C>A r.(?) p.(Cys13*) - - - VUS g.161293422C>A g.161323632C>A 39 C/A, C13X - SDHC_000007 - PubMed: Schiavi, PubMed: Neumann - - Germline - - - - - Jean-Pierre Bayley
+?/+, ?/+ 2 2 c.43C>T r.(?) p.(Arg15*) - - - likely pathogenic, VUS g.161293426C>T g.161323636C>T p.Arg15X - SDHC_000013 - PubMed: Pasini, PubMed: Neumann, PubMed: Vandy, PubMed: Burnichon - - Germline - - - - - Jean-Pierre Bayley
?/. 1 2 c.49del r.(?) p.(His17Thrfs*30) - - - VUS g.161293432del g.161323642del - - SDHC_000066 - PubMed: Buffet - - Unknown - - - - - Jean-Pierre Bayley
?/. 1 2 c.68del r.(?) p.(Cys23Leufs*24) - - - VUS g.161293451del g.161323661del - - SDHC_000067 - PubMed: Buffet - - Unknown - - - - - Jean-Pierre Bayley
?/. 1 2i c.77+2dup r.spl? p.(=) - - - VUS g.161293462dup g.161323672dup c.[77+2dupT];[=] - SDHC_000049 abnormal mRNA exon 2 skipping, UK, Pathogenic PubMed: Buffet - - Unknown - - - - - Jean-Pierre Bayley
-?/. 1 - c.77+3A>G r.spl? p.? - - - likely benign g.161293463A>G g.161323673A>G SDHC(NM_003001.3):c.77+3A>G - SDHC_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/-? 1 2i c.77+36T>A r.(=) p.(=) - - - benign g.161293496T>A g.161323706T>A IVS2 - SDHC_000012 No predicted splice site change, not in dbSNP - - - Unknown - - - - - Janneke Weiss
-?/. 1 - c.78-19C>T r.(=) p.(=) - - - likely benign g.161298167C>T g.161328377C>T SDHC(NM_003001.3):c.78-19C>T - SDHC_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/+ 1 2i c.78-2A>G r.spl? p.(=) - - - VUS g.161298184A>G g.161328394A>G - - SDHC_000017 Proven exon 3 skipping, adrenal pheo & EA-PGL PubMed: Peczkowska, PubMed: Neumann - - Germline - - - - - Jean-Pierre Bayley
?/. 1 2i_3i c.(77+1_78-1)_(179+1_180-1)del r.(?) p.(Ala27_Ser60del) - - - VUS g.(161293461_161298185)_(161298288_161310383)del - - - SDHC_000068 Deletion of exon 3 PubMed: Buffet - - Unknown - - - - - Jean-Pierre Bayley
?/+ 1 1i_2i c.(220+1_221-1)_(77+1_78-1)del r.? p.? - - - VUS g.(161284216_161293403)_(161293461_161298185)del - exon 2 deletion - SDHC_000034 LOH at SDHC locus; SDHB protein expression=0 PubMed: Burnichon - - Germline - - - - - Jean-Pierre Bayley
-?/. 1 - c.120G>A r.(?) p.(Arg40=) - - - likely benign g.161298228G>A g.161328438G>A - - SDHC_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/+ 1 3 c.126G>A r.(?) p.(Trp42*) - - - VUS g.161298234G>A g.161328444G>A - - SDHC_000011 - PubMed: Mannelli - - Germline - - - - - Jean-Pierre Bayley
+/? 1 3 c.128A>G r.(?) p.(Asn43Ser) - - - pathogenic g.161298236A>G g.161328446A>G - - SDHC_000045 - - - - Unknown - - - - - Yang Zha
?/., +/? 2 3 c.148C>T r.(?) p.(Arg50Cys) 0.00 - - VUS, likely pathogenic g.161298256C>T g.161328466C>T c.[148C>T];[=] - SDHC_000024 VUS PubMed: Rattenberry, PubMed: Neumann - - Unknown, Germline - - - - - Jean-Pierre Bayley
?/. 1 3 c.154_155del r.(?) p.(Leu52Valfs*45) - - - VUS g.161298262_161298263del g.161328472_161328473del - - SDHC_000050 - PubMed: Fruhmann - - Unknown - - - - - Jean-Pierre Bayley
?/? 1 3 c.166A>T r.(?) p.(Ile56Phe) - - - VUS g.161298274A>T g.161328484A>T - - SDHC_000025 - PubMed: Neumann - - Germline - - - - - Jean-Pierre Bayley
+/? 1 3 c.173T>C r.(?) p.(Ile58Thr) - - - pathogenic g.161298281T>C g.161328491T>C - - SDHC_000026 - PubMed: Neumann - - Germline - - - - - Jean-Pierre Bayley
+?/. 1 - c.179G>T r.(?) p.(Ser60Ile) - - - likely pathogenic g.161298287G>T g.161328497G>T - - SDHC_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/+ 1 3i_6 c.(179+1_180-1)_(*2318_?)del r.spl? p.? - - - VUS g.(161298288_161310383)_(161334541)del - Deletion Exon 4-6 - SDHC_000030 - PubMed: Neumann - - Germline - - - - - Jean-Pierre Bayley
+?/+ 1 4 c.183G>A r.(?) p.(Trp61*) - - - likely pathogenic g.161310387G>A g.161340597G>A - - SDHC_000019 - PubMed: Garrel - - Germline - - - - - Jean-Pierre Bayley
?/-? 1 4 c.197C>T r.(?) p.(Ala66Val) - - - VUS g.161310401C>T g.161340611C>T - - SDHC_000047 - PubMed: Ni - - Germline - - - - - Jean-Pierre Bayley
?/. 2 - c.202T>C r.(?) p.(Ser68Pro) - - - VUS g.161310406T>C g.161340616T>C SDHC(NM_003001.3):c.202T>C (p.S68P) - SDHC_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Nijmegen
+/? 1 4 c.210C>G r.(?) p.(Cys70Trp) - - - pathogenic g.161310414C>G g.161340624C>G - - SDHC_000027 - PubMed: Neumann - - Germline - - - - - Jean-Pierre Bayley
?/. 1 4 c.214C>G r.(?) p.(Arg72Gly) - - - VUS g.161310418C>G g.161340628C>G - - SDHC_000051 - PubMed: Else - - Unknown - - - - - Jean-Pierre Bayley
?/+? 2 4 c.214C>T r.(?) p.(Arg72Cys) 0.00 - - likely pathogenic, VUS g.161310418C>T g.161340628C>T 214 C/T, R72C, p.Arg72Cys - SDHC_000008 functional domain, conserved residue, 0/164 controls PubMed: Bayley, PubMed: Schiavi, PubMed: Burnichon - - Germline - - - - - Jean-Pierre Bayley
?/+? 1 4 c.215G>A r.(?) p.(Arg72His) - - - VUS g.161310419G>A g.161340629G>A p.Arg72His - SDHC_000037 - PubMed: Burnichon - - Germline - - - - - Jean-Pierre Bayley
+/+ 1 4 c.218_219insA r.(?) p.(Thr74Hisfs*24) - - - pathogenic g.161310422_161310423insA g.161340632_161340633insA p.Thr74HisfsX24 - SDHC_000028 - PubMed: Neumann - - Germline - - - - - Jean-Pierre Bayley
+?/+?, +/+? 2 4 c.224G>A r.(?) p.(Gly75Asp) - - - likely pathogenic, pathogenic g.161310428G>A g.161340638G>A - - SDHC_000029 SDHB IHC Neg PubMed: Boikos, PubMed: Neumann - - Unknown, Germline ? - - - - Jean-Pierre Bayley
?/-? 1 4 c.241G>C r.(?) p.(Gly81Arg) - - - VUS g.161310445G>C g.161340655G>C p.Gly81Arg - SDHC_000039 - PubMed: Burnichon - - Germline - - - - - Jean-Pierre Bayley
?/-? 1 4i c.241+74C>T r.(=) p.(=) - - - VUS g.161310519C>T g.161340729C>T c.242+74C>T - SDHC_000038 Allelic freq: controls 16/200; patients 62/428 PubMed: Burnichon - rs9970904 Germline - - - - - Jean-Pierre Bayley
+/+ 1 4i_6 c.242-241_*1978del r.spl? p.? - - - pathogenic g.161326226_161334201del g.161356436_161364411del Deletion Exon 5 & 6 - SDHC_000044 - PubMed: Bayley - - Germline - - - - - Jean-Pierre Bayley
?/. 1 4i c.242-22A>G r.(=) p.(=) - - - VUS g.161326445A>G g.161356655A>G - - SDHC_000052 Normal cDNA sequences PubMed: Lefebvre - - Unknown - - - - - Jean-Pierre Bayley
?/+ 1 4i_5i c.(241+1_242-1)_(405+1_406-1)del r.spl? p.? - - - VUS g.(161310446_161326466)_(161326631_161332118)del - Deletion Exon 5 - SDHC_000031 - PubMed: Neumann - - Germline - - - - - Jean-Pierre Bayley
-?/-? 1 5 c.244G>T r.(?) p.(Val82Phe) - - - likely benign g.161326469G>T g.161356679G>T - - SDHC_000021 SNP in healthy controls PubMed: López-Jiménez - - Germline - 3/1020 - - - Jean-Pierre Bayley
+?/?, ?/? 2 5 c.253_255dup r.(?) p.(Phe85dup) - - - likely pathogenic, VUS g.161326478_161326480dup g.161356688_161356690dup p.Phe85dup - SDHC_000020 Predicted splicing defect (in-silico) PubMed: López-Jiménez, PubMed: Burnichon - - Germline - - - - - Jean-Pierre Bayley
-/. 1 - c.273A>G r.(?) p.(Leu91=) - - - benign g.161326498A>G g.161356708A>G SDHC(NM_003001.3):c.273A>G (p.L91=) - SDHC_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.295T>A r.(?) p.(Tyr99Asn) - - - likely benign g.161326520T>A g.161356730T>A SDHC(NM_003001.3):c.295T>A (p.Y99N) - SDHC_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.306T>C r.(?) p.(Leu102=) - - - likely benign g.161326531T>C g.161356741T>C SDHC(NM_003001.3):c.306T>C (p.L102=) - SDHC_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.307G>C r.(?) p.(Val103Leu) - - - likely benign g.161326532G>C g.161356742G>C SDHC(NM_003001.3):c.307G>C (p.V103L) - SDHC_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 5 c.328C>T r.(?) p.(Pro110Ser) 0.53 - - likely benign g.161326553C>T g.161356763C>T - - SDHC_000053 VUS PubMed: Crona - - Unknown - - - - - Jean-Pierre Bayley
-/. 1 - c.354T>C r.(?) p.(Phe118=) - - - benign g.161326579T>C g.161356789T>C - - SDHC_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.360T>C r.(?) p.(Leu120=) - - - likely benign g.161326585T>C g.161356795T>C SDHC(NM_003001.3):c.360T>C (p.L120=) - SDHC_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 2 5 c.379C>T r.(?) p.(His127Tyr) Deleterious - - VUS g.161326604C>T g.161356814C>T c.379C>T,p.His127Tyr - SDHC_000054 Align GVGD: Class C65 PubMed: Buffet, PubMed: Else - - Unknown - - - - - Jean-Pierre Bayley
?/. 1 5 c.380A>G r.(?) p.(His127Arg) 0.00 - - likely pathogenic g.161326605A>G g.161356815A>G c.[380A>G];[=] - SDHC_000055 VUS PubMed: Miettinen, PubMed: Rattenberry, PubMed: Dénes, PubMed: Gill - - Unknown - - - - - Jean-Pierre Bayley
+/., ?/+ 4 5 c.397C>T r.(?) p.(Arg133*) - - - pathogenic, VUS g.161326622C>T g.161356832C>T p.Arg133X - SDHC_000015 - PubMed: Fostira 2020, PubMed: Zbuk 2007, PubMed: Zbuk, PubMed: Burnichon - - Germline - - - - - Florentia Fostira, James Whitworth, Jean-Pierre Bayley
+?/+?, ?/+? 2 5i c.405+1G>A r.spl? p.?, p.(=) - - - likely pathogenic, VUS g.161326631G>A g.161356841G>A IVS5 - SDHC_000014 SDHB IHC Neg, SDHA IHC Pos PubMed: Boikos, PubMed: Pasini - - Unknown, Germline ? - - - - Jean-Pierre Bayley
?/. 1 5i c.405+1G>C r.spl? p.(=) - - - VUS g.161326631G>C g.161356841G>C - - SDHC_000056 - PubMed: Else - - Unknown - - - - - Jean-Pierre Bayley
+/., ?/+? 2 5i c.405+1G>T r.spl? p.?, p.(=) - - - pathogenic, VUS g.161326631G>T g.161356841G>T SDHC(NM_003001.3):c.405+1G>T, (IVS5), G->T+1 Intron 5, 405+1 G/T - SDHC_000002 VKGL data sharing initiative Nederland, aberrant splicing PubMed: Niemann, PubMed: Schiavi - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Utrecht, Jean-Pierre Bayley
-?/. 1 - c.405+12C>T r.(=) p.(=) - - - likely benign g.161326642C>T g.161356852C>T - - SDHC_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.405+13G>A r.(=) p.(=) - - - likely benign g.161326643G>A g.161356853G>A - - SDHC_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 5i c.405+23C>T r.(=) p.(=) - - - VUS g.161326653C>T g.161356863C>T - - SDHC_000057 - PubMed: Iacobone - - Unknown - - - - - Jean-Pierre Bayley
?/? 1 5i c.405+25T>C r.(=) p.(=) - - - VUS g.161326655T>C g.161356865T>C - - SDHC_000018 - - - - Unknown - - - - - Janneke Weiss
?/-? 1 5i c.405+84G>C r.(=) p.(=) - - - VUS g.161326714G>C g.161356924G>C c.510+84G>C - SDHC_000041 Allelic freq: controls 0/200; patients 1/422 PubMed: Burnichon - - Germline - - - - - Jean-Pierre Bayley
?/+ 1 5i_6 c.406-550_*2318delins4? r.(?) p.? - - - VUS g.161331569_161334541delins4? - 8372 base-pair deletion spanning exon 6 - SDHC_000003 - PubMed: Baysal - - Germline - - - - - Jean-Pierre Bayley
-/. 1 - c.406-15_406-14del r.(=) p.(=) - - - benign g.161332104_161332105del g.161362314_161362315del SDHC(NM_003001.3):c.406-15_406-14delTT - SDHC_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.406-14_406-13del r.(=) p.(=) - - - likely benign g.161332105_161332106del g.161362315_161362316del SDHC(NM_003001.3):c.406-14_406-13delTG - SDHC_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.406-13G>T r.(=) p.(=) - - - benign g.161332106G>T g.161362316G>T SDHC(NM_003001.3):c.406-13G>T - SDHC_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.406-12C>T r.(=) p.(=) - - - benign g.161332107C>T g.161362317C>T SDHC(NM_003001.3):c.406-12C>T - SDHC_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.406-8G>T r.(=) p.(=) - - - likely benign g.161332111G>T g.161362321G>T SDHC(NM_003001.3):c.406-8G>T - SDHC_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.406-6C>T r.(=) p.(=) - - - likely benign g.161332113C>T g.161362323C>T SDHC(NM_001035511.1):c.242-6C>T (p.(=)) - SDHC_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 6 c.419G>A r.(?) p.(Gly140Glu) 0.00 missense - likely pathogenic g.161332132G>A g.161362342G>A - - SDHC_000058 - PubMed: Lefebvre - - Unknown - - - - - Jean-Pierre Bayley
+/. 1 - c.436C>A r.(?) p.(Pro146Thr) - - - pathogenic g.161332149C>A g.161362359C>A - - SDHC_000048 - - - - Germline - - - - - Andreas Laner
?/? 1 6 c.439C>T r.(?) p.(Gln147*) - - - VUS g.161332152C>T g.161362362C>T 439 C/T, Q147X - SDHC_000009 - PubMed: Schiavi - - Germline - - - - - Jean-Pierre Bayley
?/. 1 6 c.455G>C r.(?) p.(Gly152Ala) 0.00 - - likely pathogenic g.161332168G>C g.161362378G>C - - SDHC_000059 GIST PubMed: Pantaleo - - Unknown - - - - - Jean-Pierre Bayley
?/?, ?/. 3 6 c.473T>C r.(?) p.(Leu158Pro) - - - VUS g.161332186T>C g.161362396T>C c.473T>C, L158P, p.Leu158Pro - SDHC_000004 VKGL data sharing initiative Nederland PubMed: Bauters, PubMed: Burnichon - - Germline, CLASSIFICATION record - - - - - Jean-Pierre Bayley, VKGL-NL_Nijmegen
?/. 1 6 c.481T>G r.(?) p.(Leu161Val) 0.73 missense - VUS g.161332194T>G g.161362404T>G - - SDHC_000060 - PubMed: Lefebvre - - Unknown - - - - - Jean-Pierre Bayley
-?/., ?/. 2 6 c.490A>T r.(?) p.(Met164Leu) 0.55 missense - likely benign g.161332203A>T g.161362413A>T SDHC(NM_003001.3):c.490A>T (p.M164L) - SDHC_000061 VKGL data sharing initiative Nederland, VUS PubMed: Crona - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_VUmc, Jean-Pierre Bayley
+?/? 1 6 c.497T>G r.(?) p.(Leu166Arg) - - - likely pathogenic g.161332210T>G g.161362420T>G - - SDHC_000046 - - - - Unknown - - - - - Yang Zha
?/. 1 - c.*18C>T r.(=) p.(=) - - - VUS g.161332241C>T g.161362451C>T SDHC(NM_001035511.1):c.364C>T (p.H122Y) - SDHC_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*78G>A r.(=) p.(=) - - - likely benign g.161332301G>A g.161362511G>A SDHC(NM_001035511.1):c.424G>A (p.A142T) - SDHC_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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