Full data view for gene SDHD

This database is one of the TCA cycle gene variant databases
Information The variants shown are described using the NM_003002.2 transcript reference sequence.

435 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/+? _1_2i c.-25655_169+315del r.? p.? - - Unknown - likely pathogenic g.111931979_111959014del g.112061255_112088290del Chromosome 11q deletion - SDHD_000128 (27036 bp del) - breakpoints in MER2B and AluSx repeats PubMed: Cadiñanos - - Germline - - - 0 - DNA MLPA, SEQ - - ? - - 1 isolated case - - Spain - - 0 - - 1 Jean-Pierre Bayley
+/+ _1_2i c.-8828_169+442del r.? p.? - - Unknown - pathogenic g.111948804_111959139del g.112078080_112088415del Deletion Exon 1 & 2 - SDHD_000121 Deletion also affects entire TIMM8B gene PubMed: Bayley - - Germline - - - 0 - DNA MLPA - - PGL - - 1 isolated case - - Netherlands - - 0 - - 1 Jean-Pierre Bayley
+/+ _1_2i c.-8828_169+442del r.0? p.0? - - Paternal (confirmed) - pathogenic g.111948804_111959139del g.112078080_112088415del 1-8828_169+442del - SDHD_000121 - Journal: Heesterman 2018 - - Germline - - - 0 - DNA SEQ - - PGL-1 EJHG-Pat206 Journal: Heesterman 2018 - M - Netherlands - - 0 - - 1 Berdine Heesterman
+/+ _1_2i c.-8828_169+442del r.0? p.0? - - Paternal (confirmed) - pathogenic g.111948804_111959139del g.112078080_112088415del 1-8828_169+442del - SDHD_000121 - Journal: Heesterman 2018 - - Germline - - - 0 - DNA SEQ - - PGL-1 EJHG-Pat207 Journal: Heesterman 2018 - M - Netherlands - - 0 - - 1 Berdine Heesterman
+/+ _1_2i c.-8828_169+442del r.0? p.0? - - Paternal (confirmed) - pathogenic g.111948804_111959139del g.112078080_112088415del 1-8828_169+442del - SDHD_000121 - Journal: Heesterman 2018 - - Germline - - - 0 - DNA SEQ - - PGL-1 EJHG-Pat208 Journal: Heesterman 2018 - M - Netherlands - - 0 - - 1 Berdine Heesterman
+/+ _1_2i c.-8828_169+442del r.0? p.0? - - Paternal (confirmed) - pathogenic g.111948804_111959139del g.112078080_112088415del 1-8828_169+442del - SDHD_000121 - Journal: Heesterman 2018 - - Germline - - - 0 - DNA SEQ - - PGL-1 EJHG-Pat209 Journal: Heesterman 2018 - F - Netherlands - - 0 - - 1 Berdine Heesterman
+/+ _1_2i c.-1427_169+29del r.? p.? - - Unknown - pathogenic g.111956205_111958726del g.112085481_112088002del Deletion Exon 1 & 2 - SDHD_000122 Also deletion of exon 1 of the TIMM8B gene. PubMed: Bayley - - Germline - - - 0 - DNA MLPA - - PGL - - 1 isolated case - - Netherlands - - 0 - - 1 Jean-Pierre Bayley
?/+ _1_2i c.(?_-61)_(169+1_170-1)del r.? p.? - - Unknown - VUS g.(?_111957571)_(111958698_111959590)del - Deletion Exons 1-2 - SDHD_000116 - PubMed: Neumann - - Germline - - - 0 - DNA SEQ - - PGL - - - - - Germany - - 0 - - 1 Jean-Pierre Bayley
?/+ _1_4_ c.(?_-61)_(*824_?)del r.? p.? - - Parent #1 - VUS g.(?_111957571)_(111966518_?)del - approximately 96-kb deletion spanning SDHD - SDHD_000025 0/1 controls PubMed: McWhinney - - Germline - - - 0 - DNA SEQ, PCRsqd - - PGL - - 1 family 6 affected - - United States - - 0 - - 1 Jean-Pierre Bayley
?/+ _1_4_ c.(?_-61)_(*824_?)del r.? p.? - - Unknown - VUS g.(?_111957571)_(111966518_?)del - Deletion Exons 1-4 - SDHD_000025 - PubMed: Neumann, PubMed: Piccini - - Germline - - - 0 - DNA PCRsqd - - PGL - - 2 families 2 affected; 1 isolated case - - Germany - - 0 - - 2 Jean-Pierre Bayley
-?/. - c.-19T>C r.(?) p.(=) - - Unknown - likely benign g.111957613T>C g.112086889T>C - - SDHD_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/+ 1 c.1A>G r.(?) p.(Met1?) - - Parent #1 - VUS g.111957632A>G g.112086908A>G A-->G (M1V) - SDHD_000021 0/117 controls, LOH in tumor PubMed: Riemann - - Germline - - - 0 - DNA SEQ - - PGL - - OMIM602690:0021; 3 isolated cases - - Germany - - 0 - - 1 Jean-Pierre Bayley
+/+ 1 c.1A>G r.(?) p.(Met1?) - - Unknown - pathogenic g.111957632A>G g.112086908A>G - - SDHD_000021 - PubMed: Wang - - Unknown - - - 0 - DNA SEQ - - PGL - - 1 family 3 affected; 1 isolated case - - China - - 0 - - 2 Yang Zha
+?/+? 1 c.2T>A r.(?) p.(Met1?) - - Unknown - likely pathogenic g.111957633T>A g.112086909T>A p.Met1Lys - SDHD_000142 - PubMed: Piccini - - Germline - - - 0 - DNA SEQ - - PGL - - 1 isolated case - - Italy - - 0 - - 1 Jean-Pierre Bayley
?/. 1 c.2T>C r.(?) p.(Met1?) - - Parent #1 - VUS g.111957633T>C g.112086909T>C - - SDHD_000170 No start codon. First ATG out of frame PubMed: Buffet - - Unknown - - - 0 - DNA SEQ - - PGL - PubMed: Buffet - - - France - - 0 - - 1 Jean-Pierre Bayley
+/+ 1 c.2_3inv r.(?) p.(Met1?) - - Unknown - pathogenic g.111957633_111957634inv g.112086909_112086910inv M1S - SDHD_000109 - - - - Unknown - - - 0 - DNA SEQ - - PGL - - - - - China - - 0 - - 0 Yang Zha
+/+ 1 c.3G>A r.(?) p.(Met1?) - - Unknown - pathogenic g.111957634G>A g.112086910G>A - - SDHD_000091 - PubMed: Cascon - - Germline - - - 0 - DNA SEQ - - PGL - - 1 isolated case - - Spain - - 0 - - 1 Jean-Pierre Bayley
?/+ 1 c.3G>C r.(?) p.(Met1?) - - Parent #1 - VUS g.111957634G>C g.112086910G>C G to C (Met1Ile), 3G>C/M1I, M1I - SDHD_000015 - PubMed: Badenhop, PubMed: Lee, PubMed: Badenhop, PubMed: Ma, PubMed: Zha, PubMed: Wang - - Germline - - - 0 - DNA SEQ - - PGL - - OMIM602690:0015; 7 families 17 affected - - China - - 0 - - 6 Jean-Pierre Bayley
+/? 1 c.3G>C r.(?) p.(Met1?) - - Unknown - pathogenic g.111957634G>C g.112086910G>C - - SDHD_000015 - - - - Unknown - - - 0 - DNA SEQ - - PGL - - - - - China - - 0 - - 3 Yang Zha
+/+ 1 c.3G>C r.(?) p.0? - - Paternal (confirmed) - pathogenic g.111957634G>C g.112086910G>C Met1lle - SDHD_000015 - Journal: Heesterman 2018 - - Germline - - - 0 - DNA SEQ - - PGL-1 EJHG-Pat220 Journal: Heesterman 2018 - F - Netherlands - - 0 - - 1 Berdine Heesterman
?/+ 1 c.14G>A r.(?) p.(Trp5*) - - Parent #1 - VUS g.111957645G>A g.112086921G>A 14 G/A Trp5-->Stop - SDHD_000026 - PubMed: Cascon, PubMed: Neumann, PubMed: Neumann, PubMed: Badenhop - - Germline - - - 0 - DNA SEQ, SSCA - - PGL - - 3 families 8 affected; 3 isolated cases - - Germany;Poland; Spain - - 0 - - 4 Jean-Pierre Bayley
?/. 1 c.19_35del r.(?) p.(Leu7Cysfs*56) - - Parent #1 - VUS g.111957650_111957666del g.112086926_112086942del c.19_35delCTGAGTGCCGTTTGCGG - SDHD_000165 - PubMed: Rapizzi - - Somatic - - - 0 - DNA SEQ - - PGL - PubMed: Rapizzi - - - Italy - - 0 - - 1 Jean-Pierre Bayley
?/+ 1 c.21del r.(?) p.(Ser8Valfs*7) - - Parent #1 - VUS g.111957652del g.112086928del L7fsX14 - SDHD_000056 Australia PubMed: Benn - - Germline - - - 0 - DNA SEQ - - PGL - - 1 family 1 affected - - France - - 0 - - 1 Jean-Pierre Bayley
?/+ 1 c.28_33delinsTAGGAGGCCCTA r.(?) p.(Val10*) - - Unknown - VUS g.111957659_111957664delinsTAGGAGGCCCTA g.112086935_112086940delinsTAGGAGGCCCTA Insertion of a TAG stop codon - SDHD_000078 - PubMed: Neumayer - - Germline - - - 0 - DNA SEQ - - PGL - - 1 family 2 affected - - Austria - - 0 - - 1 Jean-Pierre Bayley
?/+ 1 c.33C>A r.(?) p.(Cys11*) - - Parent #1 - VUS g.111957664C>A g.112086940C>A - - SDHD_000027 - PubMed: Neumann, PubMed: Neumann, PubMed: Peczkowska - - Germline - - - 0 - DNA SEQ, SSCA - - PGL - - 18 families 33 affected; 9 isolated cases - - Germany;Poland - - 0 - - 3 Jean-Pierre Bayley
+/. - c.33C>A r.(?) p.(Cys11*) - - Unknown ACMG pathogenic g.111957664C>A g.112086940C>A - - SDHD_000027 ACMG grading: PS3,PM1,PM2,PP5; Guyant-Marechal et al. 2006. Neurology 67: 644; Hübbers et al. 2007. Brain 130: 381; Krause et al. 2007. Clin Neuropathol 26: 232; Niwa et al. 2012. J Biol Chem 287: 8561; Erzurumlu et al. 2013. Int J Biochem Cell Biol 45: 773 - - rs104894309 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - M - Germany - - 0 - - 1 Andreas Laner
-/- 1 c.33C>T r.(?) p.(=) - - Unknown - benign g.111957664C>T g.112086940C>T - - SDHD_000110 - PubMed: Neumann - - Germline - - - 0 - DNA SEQ - - PGL - - 2 families 2 affected - - - - - 0 - - 1 Jean-Pierre Bayley
?/- 1 c.34G>A r.(?) p.(Gly12Ser) - - Parent #1 - VUS g.111957665G>A g.112086941G>A p.Gly12Ser - SDHD_000011 - PubMed: Taschner, PubMed: Gimm, PubMed: Masuoka, PubMed: Kytola, PubMed: Cascon, PubMed: Cascon, PubMed: Perren, PubMed: Gimenez-R, PubMed: De Preter, PubMed: Leube, {PMID:Bau - - Germline - 2.5 - 5.3% - 0 - DNA SSCA, SEQ, DHPLC - - Healthy/Control - - OMIM602690:0011 - - - - - 0 - - 12 Jean-Pierre Bayley
-/. - c.34G>A r.(?) p.(Gly12Ser) - - Unknown - benign g.111957665G>A g.112086941G>A SDHD(NM_001276503.1):c.34G>A (p.(Gly12Ser)), SDHD(NM_003002.3):c.34G>A (p.G12S) - SDHD_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.34G>A r.(?) p.(Gly12Ser) - - Unknown - benign g.111957665G>A g.112086941G>A SDHD(NM_001276503.1):c.34G>A (p.(Gly12Ser)), SDHD(NM_003002.3):c.34G>A (p.G12S) - SDHD_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.34G>A r.(?) p.(Gly12Ser) - - Unknown - likely benign g.111957665G>A g.112086941G>A SDHD(NM_001276503.1):c.34G>A (p.(Gly12Ser)), SDHD(NM_003002.3):c.34G>A (p.G12S) - SDHD_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.34G>A r.(?) p.(Gly12Ser) - - Parent #1 - likely benign g.111957665G>A g.112086941G>A - - SDHD_000011 9 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34677591 Germline - 9/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 9 Mohammed Faruq
?/. - c.34G>A r.(?) p.(Gly12Ser) - - Parent #1 - VUS g.111957665G>A g.112086941G>A - - SDHD_000011 - PubMed: Taylor 2014 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ? Pat42 PubMed: Taylor 2014 - M - Hungary - - 0 - - 1 Johan den Dunnen
-?/. - c.34G>A r.(?) p.(Gly12Ser) - - Both (homozygous) - likely benign g.111957665G>A g.112086941G>A - - SDHD_000011 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34677591 Germline - 2/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
?/+ 1 c.36_37del r.(?) p.(Ala13Profs*55) - - Parent #1 - VUS g.111957667_111957668del g.112086943_112086944del c.36, 37 del TG (Frame shift) - SDHD_000028 - PubMed: Neumann, PubMed: Neumann - - Germline - - - 0 - DNA SSCA, SEQ - - PGL - - 1 family 3 affected; 1 isolated case - - Germany;Poland - - 0 - - 2 Jean-Pierre Bayley
?/+ 1 c.49C>T r.(?) p.(Arg17*) - - Unknown - VUS g.111957680C>T g.112086956C>T R17X - SDHD_000085 - PubMed: Papaspyrou - - Germline - - - 0 - DNA SEQ - - PGL - - 1 family 2 affected - - Greece - - 0 - - 1 Jean-Pierre Bayley
+/+ 1 c.49C>T r.(?) p.(Arg17*) - - Unknown - pathogenic g.111957680C>T g.112086956C>T - - SDHD_000085 - PubMed: Neumann - - Germline - - - 0 - DNA SEQ - - PGL - - 1 isolated case - - - - - 0 - - 1 Jean-Pierre Bayley
?/-? 1 c.50G>T r.(?) p.(Arg17Leu) - - Parent #1 - VUS g.111957681G>T g.112086957G>T - - SDHD_000077 - Garcia-RostanPubMed: Lima - - Germline - - - 0 - DNA SEQ, SSCA - - PGL - - 1 family 2 affected; 1 isolated case - - Portugal - - 0 - - 1 Jean-Pierre Bayley
?/+? 1i c.52+2T>G r.spl p.? - - Parent #1 - VUS g.111957685T>G g.112086961T>G c.IVS1+2T>G - SDHD_000010 0/78 controls/ Abberant splicing? PubMed: Gimm, PubMed: Neumann, PubMed: Neumann - - Germline - - - 0 - DNA SSCA, SEQ - - PGL - - OMIM602690:0010; 1 family 2 affected; 2 isolated cases - - Germany - - 0 - - 3 Jean-Pierre Bayley
+/+ 1i_2i c.52+5_169+325delins235 r.? p.? - - Unknown - pathogenic g.111957688_111959022delins235? - Deletion Exon 2 - SDHD_000123 - PubMed: Bayley - - Germline - - - 0 - DNA MLPA - - PGL - - 1 isolated case - - Netherlands - - 0 - - 1 Jean-Pierre Bayley
?/. 1i c.53-52_53-49del r.(?) p.(=) - - Parent #1 - VUS g.111958529_111958532del g.112087805_112087808del c.53?52_?55delGTCA - SDHD_000166 - PubMed: Persu - - Unknown - - - 0 - DNA SEQ - - PGL - PubMed: Persu - - - Belgium - - 0 - - 1 Jean-Pierre Bayley
+?/+? 1i c.53-2A>G r.spl p.? - - Unknown - likely pathogenic g.111958579A>G g.112087855A>G - - SDHD_000111 Aberrant splicing? PubMed: Neumann - - Germline - - - 0 - DNA SEQ - - PGL - - 2 families 2 affected - - Germany - - 0 - - 1 Jean-Pierre Bayley
+/+? 1i c.53-2A>G r.spl p.? - - Unknown - pathogenic g.111958579A>G g.112087855A>G - - SDHD_000111 Skipping of exon 2 PubMed: Hermsen - - Germline - - - 0 - DNA SEQ - - PGL - - 1 family 1 affected - - Spain - - 0 - - 1 Jean-Pierre Bayley
-?/. - c.53C>T r.(?) p.(Ala18Val) - - Unknown - likely benign g.111958581C>T g.112087857C>T SDHD(NM_001276506.1):c.53C>T (p.A18V), SDHD(NM_003002.3):c.53C>T (p.A18V) - SDHD_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.53C>T r.(?) p.(Ala18Val) - - Unknown - likely benign g.111958581C>T g.112087857C>T SDHD(NM_001276506.1):c.53C>T (p.A18V), SDHD(NM_003002.3):c.53C>T (p.A18V) - SDHD_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.53C>T r.(?) p.(Ala18Val) - - Unknown - likely benign g.111958581C>T - SDHD(NM_001276506.1):c.53C>T (p.A18V), SDHD(NM_003002.3):c.53C>T (p.A18V) - SDHD_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/+ 1 c.55_56dup r.(?) p.(Leu20Cysfs*67) - - Unknown - VUS g.111958583_111958584dup g.112087859_112087860dup g.6759 insC Frameshift after A18 - SDHD_000018 - PubMed: Taschner - - Germline - - - 0 - DNA SEQ, SSCA - - PGL - - 1 family 3 affected - - United States - - 0 - - 1 Jean-Pierre Bayley
?/+ 1 c.57del r.(?) p.(Leu20Cysfs*66) - - Unknown - VUS g.111958585del g.112087861del - - SDHD_000080 - PubMed: Pasini, PubMed: Ghayee, PubMed: Lodish - - Germline - - - 0 - DNA SEQ - - cancer, PGL - - 1 family 1 affected; 1 isolated case - - United States - - 0 - - 2 Jean-Pierre Bayley
?/+ 2 c.64C>T r.(?) p.(Arg22*) - - Parent #1 - VUS g.111958592C>T g.112087868C>T g.6769 C->T (R22X), 64C>T/R22X - SDHD_000012 - PubMed: Cascon, PubMed: Taschner, PubMed: Gimenez-Roqueplo, PubMed: Badenhop, PubMed: Amar, PubMed: Benn, PubMed: Piccini - - Germline - - - 0 - DNA SEQ, SSCA - - PGL - - OMIM602690:0012; 7 families 12 affected; 3 isolated cases - - Canada; France; Australia; Spain; Italy - - 0 - - 7 Jean-Pierre Bayley
?/- 2 c.90T>C r.(?) p.(=) - - Parent #1 - VUS g.111958618T>C g.112087894T>C p.His30His - SDHD_000024 0/150-200 PubMed: Cascon - - Germline - > 1 % - 0 - DNA SEQ - - Healthy/Control - - - - - Spain - - 0 - - 1 Jean-Pierre Bayley
?/+ 2 c.94_95del r.(?) p.(Ala33Ilefs*35) - - Parent #1 - VUS g.111958622_111958623del g.112087898_112087899del 2 bp frameshift 6799-6800, (F933>X67). - SDHD_000017 0/40 controls PubMed: Astuti, PubMed: Marvin, PubMed: Ricketts - - Germline - - - 0 - DNA SEQ, SSCA - - PGL - - OMIM602690:0017; 4 families; 2 isolated cases - - United Kingdom (Great Britain); United States - - 0 - - 2 Jean-Pierre Bayley
?/+ 2 c.95C>A r.(?) p.(Ser32*) - - Parent #1 - VUS g.111958623C>A g.112087899C>A p.S32X - SDHD_000008 - PubMed: Milunsky - - Germline - - - 0 - DNA SEQ - - PGL - - OMIM602690:0008; 1 family - - United Kingdom (Great Britain) - - 0 - - 1 Jean-Pierre Bayley
?/+ 2 c.106C>T r.(?) p.(Gln36*) - - Parent #1 - VUS g.111958634C>T g.112087910C>T CAG -> TAG Gln36 ->Stop - SDHD_000001 - PubMed: Baysal - - Germline - - - 0 - DNA SSCA, SEQ - - PGL - - OMIM602690:0001; 1 family - - United States - - 0 - - 1 Jean-Pierre Bayley
?/+ 2 c.112C>T r.(?) p.(Arg38*) - - Parent #1 - VUS g.111958640C>T g.112087916C>T CGA ->TGA Arg38->Stop, C.112 C>T (R38X), C112T Codon 38, Arg to Stop - SDHD_000002 - PubMed: Baysal, PubMed: Baysal, PubMed: Neumann, PubMed: Neumann, PubMed: Gimm, PubMed: Fish, PubMed: Lodish - - Germline - - - 0 - DNA SEQ, SSCA - - PGL - - OMIM602690:0002; 5 families 26 affected; 5 isolated cases - - United States; Germany;Poland - - 0 - - 7 Jean-Pierre Bayley
+/+ 2 c.112C>T r.(?) p.(Arg38*) - - Unknown - pathogenic g.111958640C>T g.112087916C>T R38X - SDHD_000002 - - - - Unknown - - - 0 - DNA SEQ - - PGL - - - - - China - - 0 - - 0 Yang Zha
?/. 2 c.116del r.(?) p.(Pro39Leufs*47) - - Parent #1 - VUS g.111958644del g.112087920del - - SDHD_000167 - PubMed: Persu - - Unknown - - - 0 - DNA SEQ - - PGL - PubMed: Persu 1 families 1 affected - - Belgium - - 0 - - 1 Jean-Pierre Bayley
+?/-? 2 c.118A>G r.(?) p.(Ile40Val) - - Unknown - likely pathogenic g.111958646A>G g.112087922A>G - - SDHD_000107 - - - - Unknown - 0/274 - 0 - DNA SSCA - - ? - - - - - Portugal - - 0 - - 1 Ginesa Garcia-Rostan
?/. 2 c.119_125del r.(?) p.(Ile40Asnfs*44) - - Parent #1 - VUS g.111958647_111958653del g.112087923_112087929del - - SDHD_000168 - PubMed: Buffet - - Unknown - - - 0 - DNA SEQ - - PGL - PubMed: Buffet - - - France - - 0 - - 1 Jean-Pierre Bayley
?/+ 2 c.120_127del r.(?) p.(Ile40Metfs*26) - - Unknown - VUS g.111958648_111958655del g.112087924_112087931del - - SDHD_000075 - PubMed: Lima, PubMed: Sevilla - - Unknown - - - 0 - DNA SEQ, SSCA - - PGL - - 1 family 2 affected - - Portugal - - 0 - - 2 Ginesa Garcia-Rostan
?/+ 2 c.122dup r.(?) p.(Glu42Argfs*27) - - Parent #1 - VUS g.111958650dup g.112087926dup g.6825 insC Frameshift after P41 - SDHD_000032 - PubMed: Taschner - - Germline - - - 0 - DNA SSCA, SEQ - - PGL - - 1 family 5 affected - - Netherlands - - 0 - - 1 Jean-Pierre Bayley
?/- 2 c.125A>C r.(?) p.(Glu42Ala) - - Parent #1 - VUS g.111958653A>C g.112087929A>C - - SDHD_000033 not conserved, 0/150-200 controls, located near 2 known polymorphisms. PubMed: Cascon - - Germline - > 1 % - 0 - DNA SEQ - - PGL - - 1 isolated case - - Spain - - 0 - - 1 Jean-Pierre Bayley
?/+ 2 c.129G>A r.(?) p.(Trp43*) - - Parent #1 - VUS g.111958657G>A g.112087933G>A TGG -> TGA Trp43 -> Stop - SDHD_000023 First case of Maternal Transmission? (France, Pigny et al), PubMed: Cascon, PubMed: Velasco, PubMed: Astrom, PubMed: Benn, PubMed: Timmers, PubMed: Pigny, PubMed: Galera-Ruiz, PubMed: Fakhry, PubMed: Ayala-Ramirez - - Germline - - - 0 - DNA SEQ - - PGL - PubMed: Ayala-Ramirez OMIM602690:0023; 5 families 25 affected; 4 isolated cases - - Spain; United States; France - - 0 - - 10 Jean-Pierre Bayley
?/- 2 c.138G>A r.(?) p.(=) - - Parent #1 - VUS g.111958666G>A g.112087942G>A p.Val46Val - SDHD_000065 - DBSubm003 - - Unknown - - - 0 - DNA SEQ - - Healthy/Control - - patient with PC - - Serbia - - 0 - - 1 Jovana Vignjevic
?/. 2 c.139C>T r.(?) p.(Gln47*) - - Parent #1 - VUS g.111958667C>T g.112087943C>T - - SDHD_000169 - PubMed: Buffet - - Unknown - - - 0 - DNA SEQ - - PGL - PubMed: Buffet - - - France - - 0 - - 1 Jean-Pierre Bayley
?/+ 2 c.147dup r.(?) p.(His50Thrfs*19) - - Parent #1 - VUS g.111958675dup g.112087951dup c.147-148insA, p.H50fsX68 - SDHD_000052 - PubMed: Astrom, PubMed: Lendvai - - Germline - - - 0 - DNA SEQ - - PGL - - 2 families 4 affected - - Turkey; Hungary - - 0 - - 2 Jean-Pierre Bayley
+/. 2 c.149A>G r.(?) p.(His50Arg) - - Parent #1 - pathogenic g.111958677A>G g.112087953A>G - - SDHD_000019 - - - - Germline - - - 0 - DNA SEQ - - PGL - - - - - Germany - - 0 - - 1 Andreas Laner
?/- 2 c.149A>G r.(?) p.(His50Arg) - - Parent #1 - VUS g.111958677A>G g.112087953A>G CAC -> CGC, A160G (H50R), g.6854 A>G - SDHD_000019 - PubMed: Cascón, PubMed: Cascon, PubMed: Kytola, PubMed: Perren, PubMed: Gimenez-Roqueplo, PubMed: Riemann, PubMed: Castellano, PubMed: Lima - - Germline - 1.0 - 3.0% - 0 - DNA DHPLC, SEQ, SSCA - - Healthy/Control - - OMIM602690:0019 - - - - - 0 - - 7 Jean-Pierre Bayley
-/. - c.149A>G r.(?) p.(His50Arg) - - Unknown - benign g.111958677A>G g.112087953A>G SDHD(NM_001276506.1):c.149A>G (p.H50R), SDHD(NM_003002.3):c.149A>G (p.H50R) - SDHD_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.149A>G r.(?) p.(His50Arg) - - Unknown - likely benign g.111958677A>G g.112087953A>G SDHD(NM_001276506.1):c.149A>G (p.H50R), SDHD(NM_003002.3):c.149A>G (p.H50R) - SDHD_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.149A>G r.(?) p.(His50Arg) - - Unknown - likely benign g.111958677A>G g.112087953A>G SDHD(NM_001276506.1):c.149A>G (p.H50R), SDHD(NM_003002.3):c.149A>G (p.H50R) - SDHD_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.149A>G r.(?) p.(His50Arg) - - Parent #1 - VUS g.111958677A>G g.112087953A>G - - SDHD_000019 conflicting interpretations of pathogenicity; 7 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11214077 Germline - 7/2793 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 7 Mohammed Faruq
?/+ 2 c.149dup r.(?) p.(His50Glnfs*19) - - Parent #1 - VUS g.111958677dup g.112087953dup p.His50fs, H50fsX68 - SDHD_000057 - PubMed: Amar, PubMed: Benn - - Germline - - - 0 - DNA SEQ - - PGL - - 2 families 2 affected - - France - - 0 - - 2 Jean-Pierre Bayley
?/? 2 c.149dup r.(?) p.(His50Glnfs*19) - - Unknown - VUS g.111958677dup g.112087953dup p.His50fs, H50fsX68 - SDHD_000057 - PubMed: Lendvai - - Germline - - - 0 - DNA SEQ - - PGL - - 1 family 1 affected M - Hungary - - 0 - - 1 Jean-Pierre Bayley
?/. 2 c.149dup r.(?) p.(His50Glnfs*19) - - Parent #1 - VUS g.111958677dup g.112087953dup - - SDHD_000057 - PubMed: Buffet - - Unknown - - - 0 - DNA SEQ - - PGL - PubMed: Buffet - - - France - - 0 - - 1 Jean-Pierre Bayley
?/. 2 c.158C>T r.(?) p.(Pro53Leu) - - Parent #1 - VUS g.111958686C>T g.112087962C>T - - SDHD_000145 - PubMed: Lefebvre - - Unknown - - - 0 - DNA SEQ - - PGL - PubMed: Lefebvre - - - France - - 0 - - 1 Jean-Pierre Bayley
?/. - c.158C>T r.(?) p.(Pro53Leu) - - Unknown - VUS g.111958686C>T g.112087962C>T SDHD(NM_003002.3):c.158C>T (p.P53L) - SDHD_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.166del r.(?) p.(His56Ilefs*30) - - Parent #1 - VUS g.111958694del g.112087970del - - SDHD_000146 - PubMed: Buffet - - Unknown - - - 0 - DNA SEQ - - PGL - PubMed: Buffet - - - France - - 0 - - 1 Jean-Pierre Bayley
?/+ 2 c.168_169del r.(?) p.(Ser57Trpfs*11) - - Parent #1 - VUS g.111958696_111958697del g.112087972_112087973del 170-171delTT - SDHD_000054 - PubMed: Velasco, PubMed: Cascon - - Germline - - - 0 - DNA SEQ, SSCA - - PGL - - 1 family 4 affected - - Spain - - 0 - - 2 Jean-Pierre Bayley
?/+? 2_2i c.169_169+9del r.spl p.? - - Parent #1 - VUS g.111958697_111958706del g.112087973_112087982del delTGTATGTTCT affects exon 2 & IVS2. Aberrant splicing? - SDHD_000074 deletion of last nucleotide of exon 2 and splice donor site of intron 2 - splicing defect? DBSubm001 - - Germline - - - 0 - DNA SEQ - - PGL - - - - - Netherlands Hindu - 0 - - 1 Janneke Weiss
+?/+? 2_2i c.169_169+9del r.spl p.? - - Unknown - likely pathogenic g.111958697_111958706del g.112087973_112087982del delTGTATGTTCT affects exon 2 & IVS2. Aberrant splicing? - SDHD_000074 - - - - Unknown - - - 0 - DNA SEQ - - ? - - noradrenaline producerend abdominaal PGL (31 jr) - - Netherlands - - 0 - - 1 Janneke Weiss
+?/+? 2_2i c.169_169+9del r.spl p.? - - Paternal (confirmed) - likely pathogenic g.111958697_111958706del g.112087973_112087982del 169_169+9 del TGTATGTTCT - SDHD_000074 - Journal: Heesterman 2018 - - Germline - - - 0 - DNA SEQ - - PGL-1 EJHG-Pat210 Journal: Heesterman 2018 - F - Netherlands - - 0 - - 1 Berdine Heesterman
+?/+? 2_2i c.169_169+9del r.spl p.? - - Paternal (confirmed) - likely pathogenic g.111958697_111958706del g.112087973_112087982del 169_169+9 del TGTATGTTCT - SDHD_000074 - Journal: Heesterman 2018 - - Germline - - - 0 - DNA SEQ - - PGL-1 EJHG-Pat211 Journal: Heesterman 2018 - F - Netherlands - - 0 - - 1 Berdine Heesterman
+/+? 2i c.169+1G>A r.spl p.? - - Unknown - pathogenic g.111958698G>A g.112087974G>A - - SDHD_000132 Exclusion of exon 2 during splicing PubMed: Srirangalingam - - Germline - - - 0 - DNA SEQ - - PGL - - 15y boy - - United Kingdom (Great Britain) - - 0 - - 1 Jean-Pierre Bayley
+/. - c.169+1G>A r.spl? p.? - - Unknown - pathogenic g.111958698G>A g.112087974G>A - - SDHD_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/+? 2i c.169+1G>T r.spl p.? - - Parent #1 - VUS g.111958698G>T g.112087974G>T c.IVS2+1G>T Aberrant splicing? - SDHD_000058 - PubMed: Benn - - Germline - - - 0 - DNA SEQ - - PGL - - 1 family 1 affected - - France - - 0 - - 1 Jean-Pierre Bayley
?/+ 2i c.169+5G>A r.spl? p.? - - Unknown - VUS g.111958702G>A g.112087978G>A - - SDHD_000084 France. Splicesite mutation? cDNA: SDHD exon 2 skipping PubMed: Timmers, PubMed: Burnichon - - Germline - - - 0 - DNA SEQ - - PGL - - 3 isolated cases - - Netherlands - - 0 - - 2 Jean-Pierre Bayley
?/- 2i c.169+67C>T r.(?) p.(=) - - Parent #1 - VUS g.111958764C>T g.112088040C>T - - SDHD_000069 - DBSubm001 - - Unknown - - - 0 - DNA SEQ - - PGL - - - - - - - - 0 - - 1 Janneke Weiss
-/- 2i c.170-29A>G r.(?) p.(=) - - Parent #1 - benign g.111959562A>G g.112088838A>G c.IVS3-29A>G; but located in IVS2 - SDHD_000030 - PubMed: De Preter, PubMed: Aguiar - - Germline - 4.4- 7.5% - 0 - DNA DHPLC - - Healthy/Control - - - - - - - - 0 - - 2 Jean-Pierre Bayley
?/. 2i c.170-2A>T r.spl p.? - - Parent #1 - VUS g.111959589A>T g.112088865A>T - - SDHD_000147 - PubMed: Buffet - - Unknown - - - 0 - DNA SEQ - - PGL - PubMed: Buffet - - - France - - 0 - - 1 Jean-Pierre Bayley
?/+ 2i c.170-1G>T r.spl p.? - - Parent #1 - VUS g.111959590G>T g.112088866G>T c.IVS2-1G>T Aberrant splicing? - SDHD_000031 - PubMed: Dannenberg, PubMed: Renard, PubMed: Bauters, PubMed: Astrom, PubMed: Benn, PubMed: Mannelli, PubMed: Persu, PubMed: Ghayee - - Germline - - - 0 - DNA , RNA SEQ - - PGL - PubMed: Pigny 5 families 21 affected; 5 isolated cases - - Belgium; United States; France - - 0 - - 9 Jean-Pierre Bayley
+?/+ 1i_3i c.(169+1_170-1)_(314+1_315-1)del r.? p.? - - Unknown - likely pathogenic g.(111958698_111959590)_(111959736_111965528)del - exon 3 del - SDHD_000099 - PubMed: Fish - - Germline - - - 0 - DNA SEQ - - PGL - - 1 family 5 affected - - Austria - - 0 - - 1 Jean-Pierre Bayley
?/+ 1i_3i c.(169+1_170-1)_(314+1_315-1)del r.? p.? - - Unknown - VUS g.(111958698_111959590)_(111959736_111965528)del - Deletion Exons 3 - SDHD_000099 - PubMed: Neumann - - Germline - - - 0 - DNA SEQ - - PGL - - 1 isolated case - - - - - 0 - - 1 Jean-Pierre Bayley
?/+ 1i_4_ c.(169+1_170-1)_(*824_?)del r.? p.? - - Unknown - VUS g.(111958698_111959590)_(111966518_?)del - Deletion Exons 3-4 - SDHD_000114 - PubMed: Neumann - - Germline - - - 0 - DNA SEQ - - PGL - - 2 families 2 affected - - Germany - - 0 - - 1 Jean-Pierre Bayley
?/. - c.180G>A r.(?) p.(Lys60=) - - Unknown - VUS g.111959601G>A g.112088877G>A SDHD(NM_003002.3):c.180G>A (p.K60=) - SDHD_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/+ 3 c.181del r.(?) p.(Ala61Leufs*25) - - Parent #1 - VUS g.111959602del g.112088878del - - SDHD_000073 - DBSubm001 - - Unknown - - - 0 - DNA SEQ - - PGL - - - F - Netherlands - - 0 - - 1 Janneke Weiss
+/+ 3 c.184_185insTC r.(?) p.(Ala62Valfs*25) - - Unknown - pathogenic g.111959605_111959606insTC g.112088881_112088882insTC - - SDHD_000093 - PubMed: Neumann - - Germline - - - 0 - DNA SEQ - - PGL - - 1 isolated case - - Germany - - 0 - - 1 Jean-Pierre Bayley
+/+ 3 c.188_198del r.(?) p.(Ser63Tyrfs*2) - - Unknown - pathogenic g.111959609_111959619del g.112088885_112088895del - - SDHD_000108 - - - - Unknown - - - 0 - DNA SEQ - - PGL - - 1 isolated case - - China - - 0 - - 0 Yang Zha
?/+ 3 c.191_192del r.(?) p.(Leu64Profs*4) - - Parent #1 - VUS g.111959612_111959613del g.112088888_112088889del c.189_190delTC; - SDHD_000013 - PubMed: Badenhop, PubMed: Amar, PubMed: Cascon - - Germline - - - 0 - DNA SEQ - - PGL, SNHL - - OMIM602690:0013; 1 family 13 affected; 2 isolated cases - - Australia; France; Spain - - 0 - - 3 Jean-Pierre Bayley
?/+ 3 c.202dup r.(?) p.(Ser68Lysfs*46) - - Parent #1 - VUS g.111959623dup g.112088899dup p.Ser68fs, S68fsX113 - SDHD_000059 - PubMed: Amar, PubMed: Benn - - Germline - - - 0 - DNA SEQ - - PGL - - 2 families 2 affected - - France - - 0 - - 2 Jean-Pierre Bayley
?/- 3 c.204C>T r.(?) p.(=) - - Parent #1 - VUS g.111959625C>T g.112088901C>T p.Ser68Ser, g.7802 C->T (S68S), AGC - >AGT, - SDHD_000034 - PubMed: Taschner, PubMed: Cascon, PubMed: Cascon, PubMed: Hui, PubMed: Masuoka, PubMed: Dannenberg, PubMed: Aguiar, PubMed: Bauters, PubMed: Lima - - Germline - 2.8 - 4.4% - 0 - DNA SEQ, SSCA - - Healthy/Control - - - - - - - - 0 - - 10 Jean-Pierre Bayley
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