All variants in the SDHB gene

LUMC SDHB gene variant and NGSnPPGL study group (ENS@T/PRESSOR) database
Information The variants shown are described using the NM_003000.2 transcript reference sequence.

683 entries on 7 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7     Next › Last »

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     
+?/+? 1 c.-54121_73-4014del r.0? p.0? - - - likely pathogenic g.17375398_17434636del g.17048903_17108141del SDHB Del promoter + exon 1, 59238bp - SDHB_000246 Jugular PGL PubMed: Hoekstra - - Germline ? - - 0 - Jean-Pierre Bayley
+?/+ 1 c.-16418_73-5173del r.? p.? - - - likely pathogenic g.17376556_17396932del g.17050061_17070437del exon 1 deletion (20kb) - SDHB_000132 - PubMed: Cascon,PubMed: Cascon - - Germline - - - 0 - Jean-Pierre Bayley
+?/+? 1 c.-16416_72+3877del r.? p.? - deletion, large - pathogenic g.17376566_17396930del g.17050071_17070435del exon 1 deletion (20kb) - SDHB_000193 - PubMed: Burnichon - - Germline ? - - 0 - Jean-Pierre Bayley
+?/+? 1 c.-10413_73-3866del r.? p.? - deletion, large - pathogenic g.17375249_17390927del g.17048754_17064432del deletion of exon 1 (16kb) - SDHB_000131 15680 bp del incl. exon 1 PubMed: Solis, PubMed: Cascon, PubMed: Cascon, PubMed: Cascon - - Unknown - - - 0 - Jean-Pierre Bayley
+?/+? 1 c.-10413_73-3866del r.? p.? - deletion, large - pathogenic g.17375249_17390927del g.17048754_17064432del deletion of SDHB exon 1 (16kb) - SDHB_000131 15680 bp del, incl. exon 1 PubMed: Cascon - - Unknown - - - 0 - Jean-Pierre Bayley
+?/+? 1 c.-8570_201-1396del r.(=) p.(=) - - - likely pathogenic g.17361036_17389084del g.17034541_17062589del SDHB Del promoter + exon 1+2, 28199bp - SDHB_000248 - PubMed: Hoekstra - - Germline ? - - 0 - Jean-Pierre Bayley
+?/+? 1 c.-2651_(72+1_73-1)del r.? p.? - deletion, large - pathogenic g.(17371384_17380442)_17383165del - 15678bp deletion in the SDHB gene, which encompasses the promoter and exon 1. - SDHB_000245 - PubMed: Martins PubMed: Weber - - Germline ? - - 0 - Jean-Pierre Bayley
+?/+? 1 c.-2651_(72+1_73-1)dup r.? p.? - duplication, large - likely pathogenic g.(17371384_17380442)_17383165dup - Duplication, c.(?_ ? 151)_72 +? - SDHB_000273 - PubMed: Persu - - Germline ? - - 0 - Jean-Pierre Bayley
+?/+? 1 c.-516_72+333del r.? p.? - - - likely pathogenic g.17380111_17381031del g.17053616_17054536del - - SDHB_000247 3019bp deletion PubMed: Hoekstra - - Germline ? - - 0 - Jean-Pierre Bayley
?/-? 1 c.-198G>A r.(=) p.(=) - - - VUS g.17380712C>T g.17054217C>T 5’ UTR - SDHB_000192 Allelic freq: controls 1/188; patients 1/646 PubMed: Burnichon - - Germline - - - 0 - Jean-Pierre Bayley
+?/+? 1 c.(?_-151)_(72+1_73-1)del r.spl? p.? - deletion, large - pathogenic g.(17371384_17380442)_(17380665_?)del - Deletion Exon 1 - SDHB_000007 - PubMed: Neumann, PubMed: Lodish - - Germline - - - 0 - Jean-Pierre Bayley
+?/+? 1 c.(?_-151)_(72+1_73-1)del r.spl? p.? - deletion, large - pathogenic g.(17371384_17380442)_(17380665_?)del - Deletion Exon 1 (1 kb?) - SDHB_000007 0/5 controls PubMed: Amar, PubMed: McWhinney - - Germline ? - - 0 - Jean-Pierre Bayley
+?/+? 1 c.(?_-151)_(72+1_73-1)del r.spl? p.? 0 deletion, large - pathogenic g.(17371384_17380442)_(17380665_?)del - exon 1 deletion (2.5kb) - SDHB_000007 - PubMed: Burnichon - - Germline - - - 0 - Jean-Pierre Bayley
+?/+? 1 c.(?_-151)_(72+1_73-1)del r.spl? p.? - deletion, large - pathogenic g.(17371384_17380442)_(17380665_?)del - c.-1-?_72+?del - SDHB_000007 - PubMed: Bennedbaek - - Germline ? - - 0 - Jean-Pierre Bayley
+/+ 1_2i c.(?_-151)_(200+1_201-1)del r.spl? p.? 0 - - pathogenic g.(17359641_17371255)_(17380665_?)del - - - SDHB_000202 deletion of exons 1 + 2 PubMed: Kodama - - Germline - - - 0 - Jean-Pierre Bayley
+/. 1_2i c.(?_-151)_(200+1_201-1)del r.? p.? - - - pathogenic g.(17359641_17371255)_(17380665_?)del - c.[-?_200+?del];[=] - SDHB_000202 - PubMed: Rattenberry - - Unknown - - - 0 - Jean-Pierre Bayley
+?/+? - c.(?_-151)_(286+1_287-1)del r.(?) p.? - deletion, large other pathogenic g.(17355232_17359554)_(17380665_?)del - - - SDHB_000410 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - Jean-Pierre Bayley
+?/+? 1_7i c.(?_-151)_(765+1_766-1)del r.? p.? - deletion, large - pathogenic g.(17345454_17349102)_(17380665_?)del - Deletion of exon 1 - 7 - SDHB_000280 - PubMed: Buffet - - Germline ? - - 0 - Jean-Pierre Bayley
+?/+? 1_8 c.(?_-151)_(*159_?)del r.? p.? - deletion, large - pathogenic g.(?_17345217)_(17380665_?)del - whole SDHB gene deletion - SDHB_000087 - PubMed: Cascon - - Germline ? - - 0 - Jean-Pierre Bayley
+/+ 1_8 c.(?_-151)_(*159_?)del r.? p.? 0 - - pathogenic g.(?_17345217)_(17380665_?)del - Deletion Exon 1-8 - SDHB_000167 - PubMed: Neumann - - Germline - - - 0 - Jean-Pierre Bayley
+/+ 1_8 c.(?_-151)_(*159_?)del r.? p.? - - - pathogenic g.(?_17345217)_(17380665_?)del - whole SDHB gene deletion - SDHB_000196 - PubMed: Armstrong - - Germline - - - 0 - Jean-Pierre Bayley
-/-? 1 c.-139G>T r.(=) p.(=) - - - benign g.17380653C>A g.17054158C>A '5 UTR - SDHB_000119 located in '5 UTR, Allelic freq controls 1/188; patients 2/646 PubMed: Burnichon - - Germline - - - 0 - Janneke Weiss
-/-? 1 c.-139G>T r.(=) p.(=) - - - benign g.17380653C>A g.17054158C>A '5 UTR - SDHB_000119 located in '5 UTR, Allelic freq controls 1/188; patients 2/646 - - - Unknown - - - 0 - Janneke Weiss
-/. - c.-139G>T r.(?) p.(=) - - - benign g.17380653C>A g.17054158C>A SDHB(NM_003000.2):c.-139G>T - SDHB_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/? 1 c.-70C>T r.(?) p.(?) - - other VUS g.17380584G>A - - - SDHB_000312 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - Jean-Pierre Bayley
?/? 1 c.-55C>T r.(?) p.(?) - - other VUS g.17380569G>A - - - SDHB_000313 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - Jean-Pierre Bayley
-?/. - c.-33G>T r.(?) p.(=) - - - likely benign g.17380547C>A g.17054052C>A SDHB(NM_003000.2):c.-33G>T - SDHB_000295 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/? 1 c.-31T>G r.(?) p.(?) - - other VUS g.17380545A>C - - - SDHB_000314 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - Jean-Pierre Bayley
-?/-? _1 c.-19del r.(?) p.(?) - - other likely benign g.17380533del - - - SDHB_000315 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - Jean-Pierre Bayley
?/? 1 c.-6G>A r.(=) p.(=) - - - VUS g.17380520C>T g.17054025C>T 5' UTR - SDHB_000149 - - - - Unknown - - - 0 - Kazumasa Isobe
+/+ 3i_8_ c.(286+1_287-1)_*159{0} r.? p.? - deletion, large other pathogenic g.(?_17345217)_(17355232_17359554)del - deletion of exons 4 to 8, c.(286+1_287-1)_(*159_?)del - SDHB_000335 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - Jean-Pierre Bayley
+/+ 1i_8_ c.(72+1_73-1)_*159{0} r.? p.0? - deletion, large other pathogenic g.(?_17345217)_(17371384_17380442)del - deletion exons 2 to 8, c.(72+1_73-1)_(*159_?)del - SDHB_000110 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - Jean-Pierre Bayley
+/+ _1_8_ c.-151_(*159{0} r.0? p.0? - deletion, large other pathogenic g.(?_17345217)_(17380665_?)del - whole gene deletion, c.(?_-151)_(*159_?)del - SDHB_000087 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - Jean-Pierre Bayley
+/+ _1_2i c.-151_(200+1_201-1){0} r.0? p.0? - deletion, large other pathogenic g.(17359641_17371255)_(17380665_?)del - deletion of exons 1-2, c.(?_-151)_(200+1_201-1)del - SDHB_000202 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - Jean-Pierre Bayley
+/+ _1_1i c.-151_(72+1_73-1){0} r.0? p.0? - deletion, large other pathogenic g.(17371384_17380442)_(17380665_?)del - exon 1 deletion, c.(?_-151)_(72+1_73-1)del - SDHB_000007 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - Jean-Pierre Bayley
+/+ _1_7i c.-151_(765+1_766-1){0} r.0? p.0? - deletion, large other pathogenic g.(17345454_17349102)_(17380665_?)del - deletion of exons 1 to 7, c.(?_-151)_(765+1_766-1)del - SDHB_000280 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - Jean-Pierre Bayley
?/? _1_8_ c.-151_*159{2} r.? p.? - duplication, large other VUS g.(?_17345217)_(17380665_?)dup - whole gene duplication, c.(?_-151)_(*159_?)dup - SDHB_000311 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - Jean-Pierre Bayley
+/+ 1 c.3G>A r.(?) p.(Met1?) - nonsense - likely pathogenic g.17380512C>T g.17054017C>T - - SDHB_000154 - PubMed: Neumann, PubMed: Piccini - - Germline - - - 0 - Jean-Pierre Bayley
+?/+? 1 c.3G>A r.(?) p.(Met1?) - - other likely pathogenic g.17380512C>T - - - SDHB_000154 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - Jean-Pierre Bayley
+?/+? 1 c.3G>C r.(?) p.(Met1?) - - other likely pathogenic g.17380512C>G - - - SDHB_000316 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - Jean-Pierre Bayley
?/-? 1 c.8C>G r.(?) p.(Ala3Gly) - - - VUS g.17380507G>C g.17054012G>C - - SDHB_000130 Freq controls 0/1400 chromosomes, tolerated by SIFT analysis, conserved. PubMed: Ni - - Germline - 1.1%/8.5% - 0 - Jean-Pierre Bayley
?/-? 1 c.8C>G r.(?) p.(Ala3Gly) 0 - - VUS g.17380507G>C g.17054012G>C - - SDHB_000130 Allelic freq: controls 2/188; patients 1/646 Burnichon - submitted - rs11203289 Germline - 1.1% - 0 - Jean-Pierre Bayley
+?/+? 1 c.8_59del r.(?) p.(Ala3Glufs*57) - frameshift - pathogenic g.17380462_17380513del g.17053967_17054018del Deletion of exon 1 - SDHB_000275 - PubMed: Buffet - - Unknown - - - 0 - Jean-Pierre Bayley
+?/+? 1 c.8_59del r.(?) p.(Ala3Glyfs*57) - frameshift other pathogenic g.17380456_17380507del - - - SDHB_000275 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - Jean-Pierre Bayley
-?/-? 1 c.14T>G r.(?) p.(Val5Gly) - missense other likely benign g.17380501A>C - - - SDHB_000317 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - Jean-Pierre Bayley
+/+ 1 c.15dup r.(?) p.(Ala6Argfs*57) - frameshift other pathogenic g.17380500dup - - - SDHB_000318 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - Jean-Pierre Bayley
+/+ 1 c.17_35del r.(?) p.(Ala6Glyfs*65) 0 frameshift - pathogenic g.17380482_17380500del g.17053987_17054005del p.Ala6fs - SDHB_000109 - PubMed: Amar - - Unknown - - - 0 - Jean-Pierre Bayley
+/+ 1 c.17_35del r.(?) p.(Ala6Glyfs*65) 0 frameshift - pathogenic g.17380482_17380500del g.17053987_17054005del p.Ala6GlyfsX65 - SDHB_000109 - PubMed: Burnichon - - Germline - - - 0 - Jean-Pierre Bayley
+/+ 1 c.17_35del r.(?) p.(Ala6Glyfs*65) - frameshift other pathogenic g.17380480_17380498del - - - SDHB_000109 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - Jean-Pierre Bayley
?/. 1 c.17_42dup r.(?) p.(Ala15Profs*4) - frameshift - pathogenic g.17380473_17380498dup g.17053978_17054003dup c. 17_42dup26, c.17_42dup - SDHB_000276 Variant Error [ESYNTAX]: This genomic variant has an error (char 36: expected EOF). Please fix this entry and then remove this message. PubMed: Jafri, PubMed: Miettinen - - Unknown - - - 0 - Jean-Pierre Bayley
+/+ 1 c.17_42dup r.(?) p.(Ala15Profs*4) - frameshift other pathogenic g.17380473_17380498dup - - - SDHB_000276 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - Jean-Pierre Bayley
?/-? 1 c.18C>A r.(=) p.(=) 0 - - VUS g.17380497G>T g.17054002G>T p.Ala6Ala - SDHB_000008 - PubMed: Cascon, PubMed: McWhinney, PubMed: Morris, PubMed: Grau, PubMed: Brouwers, PubMed: Castellano, PubMed: Lima - - Germline - 3.5% - 0 - Jean-Pierre Bayley
-/. - c.18C>A r.(?) p.(Ala6=) - - - benign g.17380497G>T g.17054002G>T SDHB(NM_003000.2):c.18C>A (p.A6=) - SDHB_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.18C>A r.(?) p.(Ala6=) - - - benign g.17380497G>T g.17054002G>T SDHB(NM_003000.2):c.18C>A (p.A6=) - SDHB_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.18C>A r.(?) p.(Ala6=) - - - benign g.17380497G>T g.17054002G>T SDHB(NM_003000.2):c.18C>A (p.A6=) - SDHB_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.18C>A r.(?) p.(Ala6=) - - - benign g.17380497G>T g.17054002G>T SDHB(NM_003000.2):c.18C>A (p.A6=) - SDHB_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.18C>A r.(?) p.(Ala6=) - - - benign g.17380497G>T g.17054002G>T SDHB(NM_003000.2):c.18C>A (p.A6=) - SDHB_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/+? - c.19_42dup r.(?) p.(Leu7_Pro14dup) - duplication other likely pathogenic g.17380473_17380496dup - - - SDHB_000397 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - Jean-Pierre Bayley
+/+ 1 c.20_22delinsC r.(?) p.(Leu7Profs*55) 0 - - pathogenic g.17380493_17380495delinsG g.17053998_17054000delinsG - - SDHB_000191 - - - - Unknown - - - 0 - Yang Zha
?/-? 1 c.21C>T r.(=) p.(=) 0 - - VUS g.17380494G>A g.17053999G>A p.Leu7Leu - SDHB_000009 - PubMed: Cascon - - Unknown - - - 0 - Jean-Pierre Bayley
-/. - c.21C>T r.(?) p.(Leu7=) - - - benign g.17380494G>A g.17053999G>A SDHB(NM_003000.2):c.21C>T (p.L7=) - SDHB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.21C>T r.(?) p.(Leu7=) - - - benign g.17380494G>A g.17053999G>A SDHB(NM_003000.2):c.21C>T (p.L7=) - SDHB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/-? 1 c.21C>T r.(=) p.(Leu7=) - silent other likely benign g.17380494G>A - - - SDHB_000009 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - Jean-Pierre Bayley
+?/+? 1 c.21del r.(?) p.(Ser8Profs*2) 0 frameshift - pathogenic g.17380494del g.17053999del 155 delC (Frameshift) - SDHB_000010 - PubMed: Neumann - - Unknown - - - 0 - Jean-Pierre Bayley
+?/+ - c.21del r.(?) p.(Ser8Profs*2) - - ACMG pathogenic g.17380494del g.17053999del - - SDHB_000010 ACMG grading: PVS1,PM2; reported in Neumann 2004. JAMA 292: 943 - - - Germline - - - 0 - Andreas Laner
?/? 1 c.23C>T r.(?) p.(Ser8Phe) - - - VUS g.17380492G>A g.17053997G>A S8F - SDHB_000059 poorly conserved aa, polymorphism? PubMed: Castellano - - Unknown - - - 0 - Jean-Pierre Bayley
-/. - c.24C>T r.(=) p.(=) - - - benign g.17380491G>A g.17053996G>A - - SDHB_000011 - - - rs148738139 Germline - MAF A=0,007 - 0 - Andreas Laner
?/- 1 c.24C>T r.(=) p.(=) - - - VUS g.17380491G>A g.17053996G>A p.Ser8Ser - SDHB_000011 - PubMed: Bayley - - Unknown - 1.0% - 0 - Jean-Pierre Bayley
-/. - c.24C>T r.(?) p.(Ser8=) - - - benign g.17380491G>A g.17053996G>A SDHB(NM_003000.2):c.24C>T (p.S8=, p.(=)) - SDHB_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.24C>T r.(?) p.(Ser8=) - - - likely benign g.17380491G>A g.17053996G>A SDHB(NM_003000.2):c.24C>T (p.S8=, p.(=)) - SDHB_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.24C>T r.(?) p.(Ser8=) - - - benign g.17380491G>A g.17053996G>A SDHB(NM_003000.2):c.24C>T (p.S8=, p.(=)) - SDHB_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.24C>T r.(?) p.(Ser8=) - - - likely benign g.17380491G>A g.17053996G>A SDHB(NM_003000.2):c.24C>T (p.S8=, p.(=)) - SDHB_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/- 1 c.24C>T r.(=) p.(Ser8=) - silent other benign g.17380491G>A - - - SDHB_000011 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - Jean-Pierre Bayley
?/? 1 c.32G>A r.(?) p.(Arg11His) 0 - - likely benign g.17380483C>T g.17053988C>T R11H - SDHB_000141 0/600 chromosomes PubMed: Ricketts - - Germline - - - 0 - Jean-Pierre Bayley
-?/. - c.32G>A r.(?) p.(Arg11His) - - - likely benign g.17380483C>T g.17053988C>T SDHB(NM_003000.2):c.32G>A (p.R11H) - SDHB_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/-? 1 c.32G>A r.(?) p.(Arg11His) - missense other likely benign g.17380483C>T - - - SDHB_000141 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - Jean-Pierre Bayley
+?/+? - c.36del r.(?) p.(Leu13Cysfs*64) - frameshift other pathogenic g.17380479del - - - SDHB_000398 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - Jean-Pierre Bayley
+?/+? 1 c.41C>T r.(?) p.(Pro14Leu) - missense other likely pathogenic g.17380474G>A - - - SDHB_000389 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) PMID: 31492822 - - SUMMARY record - - - 0 - Jean-Pierre Bayley
?/+ 1 c.44_45dup r.(?) p.(Thr16Profs*62) 0 - - VUS g.17380470_17380471dup g.17053975_17053976dup - - SDHB_000113 - PubMed: Pasini - - Germline - - - 0 - Jean-Pierre Bayley
?/-? 1 c.49A>G r.(?) p.(Thr17Ala) 0 - - VUS g.17380466T>C g.17053971T>C - - SDHB_000221 - - - - Unknown - - - 0 - Rita Domingues
+/+ 1 c.49del r.(?) p.(Thr17Profs*60) 0 - - pathogenic g.17380467del g.17053972del - - SDHB_000155 - PubMed: Neumann - - Germline - - - 0 - Jean-Pierre Bayley
?/? 1 c.52C>T r.(?) p.(Leu18Phe) - missense other VUS g.17380463G>A - - - SDHB_000319 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - Jean-Pierre Bayley
-/- 1 c.65G>C r.(?) p.(Cys22Ser) - - - benign g.17380450C>G g.17053955C>G C22S - SDHB_000215 - PubMed: Baysal - - Germline - - - 0 - Jean-Pierre Bayley
-?/. - c.65G>C r.(?) p.(Cys22Ser) - - - likely benign g.17380450C>G - SDHB(NM_003000.2):c.65G>C (p.C22S) - SDHB_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/-? 1 c.65G>T r.(?) p.(Cys22Leu) - missense other likely benign g.17380450C>A - - - SDHB_000320 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - Jean-Pierre Bayley
+?/+? 1 c.70C>T r.(?) p.(Gln24*) - nonsense - likely pathogenic g.17380445G>A g.17053950G>A - - SDHB_000274 - PubMed: Lefebvre - - Unknown - - - 0 - Jean-Pierre Bayley
+?/+? 1 c.70C>T r.(?) p.(Gln24Ter) - nonsense other likely pathogenic g.17380445G>A - - - SDHB_000274 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - Jean-Pierre Bayley
+?/+? 1i c.72+1G>A r.spl? p.(=) 0 splicing affected? - likely pathogenic g.17380442C>T g.17053947C>T Splicesite - SDHB_000171 - PubMed: Burnichon - - Germline - - - 0 - Jean-Pierre Bayley
+?/+? 1i c.72+1G>A r.spl? p.(?) - splicing affected other likely pathogenic g.17380442C>T - - - SDHB_000171 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - Jean-Pierre Bayley
+?/+? 1i c.72+1G>C r.spl? p.? - - - likely pathogenic g.17380442C>G g.17053947C>G Splice - SDHB_000205 - PubMed: Ricketts - - Germline - - - 0 - Jean-Pierre Bayley
+?/+? 1i c.72+1G>T r.spl? p.(=) - splicing affected? - likely pathogenic g.17380442C>A g.17053947C>A (IVS1) Abberant splicing? - SDHB_000065 - PubMed: Benn, PubMed: Elston, PubMed: Brouwers, PubMed: Pasini, PubMed: Srirangalingam, PubMed: Housley, PubMed: Lodish - - Unknown - - - 0 - Jean-Pierre Bayley
+?/+? 1i c.72+1G>T r.spl? p.(=) - - - likely pathogenic g.17380442C>A g.17053947C>A - - SDHB_000065 - PubMed: Gill - - Germline - - - 0 - Jean-Pierre Bayley
+?/+? 1i c.72+1G>T r.spl? p.(?) - splicing affected other likely pathogenic g.17380442C>T - - - SDHB_000065 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - Jean-Pierre Bayley
+?/+? 1i c.72+2_72+6del r.(spl?) p.(?) - splicing affected? other likely pathogenic g.17380437_17380441del - - - SDHB_000321 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - Jean-Pierre Bayley
?/-? 1i c.73-111G>A r.(=) p.(=) - - - VUS g.17371494C>T g.17044999C>T (IVS1) - SDHB_000013 - PubMed: Benn, PubMed: Opocher, PubMed: Castellano - - Unknown - 36% - 0 - Jean-Pierre Bayley
?/? 1i c.73-65G>T r.(?) p.(?) - - other VUS g.17371448C>A - - - SDHB_000322 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - Jean-Pierre Bayley
?/-? 1i c.73-29del r.(=) p.(=) - - - VUS g.17371420del g.17044925del (IVS1) - SDHB_000012 - PubMed: Benn - - Unknown - 1.0% - 0 - Jean-Pierre Bayley
+/+ 1i c.73-22T>A r.spl? p.(?) - splicing affected other pathogenic g.17371405A>T - - - SDHB_000323 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - Jean-Pierre Bayley
?/- 1i c.73-9A>G r.spl? p.(=) - - - VUS g.17371392T>C g.17044897T>C (IVS1) - SDHB_000093 Polymorphism? PubMed: Brouwers - - Unknown - - - 0 - Jean-Pierre Bayley
+/. - c.73-8A>G r.(=) p.(=) - - - pathogenic g.17371391T>C g.17044896T>C (IVS1) - SDHB_000237 - - - - Germline - - - 0 - Andreas Laner
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7     Next › Last »