Full data view for 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.

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

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predict/SIFT     

Predicted     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-115T>C benign r.(?) p.(=) - - Unknown g.218356T>C - SDHA(NM_004168.2):c.-115T>C (p.=) - SDHA_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-80C>T likely benign r.(?) p.(=) - - Unknown g.218391C>T - SDHA(NM_004168.2):c.-80C>T (p.?) - SDHA_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-27C>G likely benign r.(?) p.(=) - - Unknown g.218444C>G - SDHA(NM_004168.2):c.-27C>G (p.?) - SDHA_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-7A>C likely benign r.(?) p.(=) - - Unknown g.218464A>C - SDHA(NM_004168.3):c.-7A>C (p.?) - SDHA_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-7A>C likely benign r.(?) p.(=) - - Unknown g.218464A>C - SDHA(NM_004168.3):c.-7A>C (p.?) - SDHA_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4A>G benign r.(?) p.(=) - - Unknown g.218467A>G - SDHA(NM_004168.3):c.-4A>G (p.?) - SDHA_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 1 c.1A>C - r.? p.? 0 - Parent #1 g.218471A>C g.218356A>C A25 C - SDHA_000001 - PubMed: Parfait - - Germline - - + BslI, -NlaIII 0 - DNA RT-PCR, SEQ - - LS - - OMIM600857:0002; 1 isolated case - - - - - 0 - - 1 Tonino Ercolino
-?/. - c.10G>A likely benign r.(?) p.(Val4Ile) - - Unknown g.218480G>A - SDHA(NM_004168.3):c.10G>A (p.V4I) - CCDC127_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.17G>A likely benign r.(?) p.(Gly6Asp) - - Unknown g.218487G>A - SDHA(NM_004168.2):c.17G>A (p.G6D) - SDHA_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.17G>A likely benign r.(?) p.(Gly6Asp) - - Unknown g.218487G>A - SDHA(NM_004168.2):c.17G>A (p.G6D) - SDHA_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 1i c.64-2A>G - r.[64_73del, r.63_64ins64-54_64-1;64-2a>g] p.(=) - - Paternal (inferred) g.223595A>G g.223480A>G - - SDHA_000022 - - - - Unknown - - - 0 - DNA, RNA DSCA, RT-PCR, SEQ - - - - - - - - - - - - - - - -
+/. - c.64-2A>G pathogenic r.spl? p.? - - Unknown g.223595A>G - SDHA(NM_004168.3):c.64-2A>G - SDHA_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.91C>T - r.(?) p.(Arg31*) - - Unknown g.223624C>T g.223509C>T - - SDHA_000013 relatively common mutation -prob. v. low penetrance PubMed: Korpershoek, PubMed: Pantaleo - - Germline - 0.3% - 0 - DNA SEQ - - PGL - - 5 isolated cases - - - Dutch - 0 - - 1 Jean-Pierre Bayley
+?/+? 2 c.91C>T - r.(?) p.(Arg31*) 0 - Unknown g.223624C>T g.223509C>T - - SDHA_000013 - PubMed: Pantaleo - - Somatic - - - 0 - DNA SEQ - - cancer - - 1 isolated case - - Italy - - 0 - - 1 Jean-Pierre Bayley
?/? 2 c.91C>T - r.91c>u p.(Arg31*) - - Maternal (confirmed) g.223624C>T g.223509C>T - - SDHA_000013 relatively common mutation -prob. v. low penetrance - - - Unknown - 0.3% - 0 - DNA, RNA DSCA, RT-PCR, SEQ - - LS - - - - - - - - 0 - - 1 Herma Renkema
+?/. 2 c.91C>T - r.(?) p.(Arg31*) - - Parent #1 g.223624C>T g.223509C>T c.[91C>T]; [=] - SDHA_000013 - PubMed: Rattenberry - - Unknown - - - 0 - DNA SEQ-NG - - PGL - PubMed: Rattenberry - - - United Kingdom (Great Britain) - - 0 - - 2 Jean-Pierre Bayley
+?/+? 2 c.91C>T - r.(?) p.(Arg31*) - - Unknown g.223624C>T g.223509C>T - - SDHA_000013 SDHB IHC Neg, SDHA IHC Neg. Carney Triad PubMed: Boikos - - Unknown ? - - 0 - DNA SEQ - - Carney complex variant - PubMed: Boikos Carney triad = paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas M ? United States - - 0 - - 1 Jean-Pierre Bayley
+/. - c.91C>T pathogenic r.(?) p.(Arg31*) - - Unknown g.223624C>T - SDHA(NM_004168.2):c.91C>T (p.R31*) - SDHA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.91C>T pathogenic r.(?) p.(Arg31*) - - Unknown g.223624C>T - SDHA(NM_004168.2):c.91C>T (p.R31*) - SDHA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.91C>T pathogenic r.(?) p.(Arg31*) - - Unknown g.223624C>T - SDHA(NM_004168.2):c.91C>T (p.R31*) - SDHA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.91C>T pathogenic r.(?) p.(Arg31*) - - Unknown g.223624C>T - SDHA(NM_004168.2):c.91C>T (p.R31*) - SDHA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.91C>T Pathogenic r.(?) p.(Arg31*) - nonsense Unknown g.223624C>T - - - SDHA_000013 - - - - Germline - - - 0 - DNA SEQ-NG-I - - MINAS - - - F - - - - 0 - - 1 James Whitworth
+/. - c.91C>T pathogenic r.(?) p.(Arg31*) - nonsense Unknown g.223624C>T g.223509C>T - - SDHA_000013 - - - - Germline - - - 0 - DNA SEQ-NG-I - - MINAS - - - M - - - - 0 - - 1 James Whitworth
-?/. - c.92G>A likely benign r.(?) p.(Arg31Gln) - - Unknown g.223625G>A - SDHA(NM_004168.2):c.92G>A (p.(Arg31Gln)) - SDHA_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 2 c.113A>T - r.(?) p.(Asp38Val) - - Unknown g.223646A>T g.223531A>T p.D38V - SDHA_000009 - PubMed: Bonache - - Germline - 6.5% - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Jean-Pierre Bayley
-/. - c.113A>T benign r.(?) p.(Asp38Val) - - Unknown g.223646A>T - SDHA(NM_004168.3):c.113A>T (p.D38V) - SDHA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.113A>T benign r.(?) p.(Asp38Val) - - Unknown g.223646A>T - SDHA(NM_004168.3):c.113A>T (p.D38V) - SDHA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.113A>T likely benign r.(?) p.(Asp38Val) - - Unknown g.223646A>T - SDHA(NM_004168.3):c.113A>T (p.D38V) - SDHA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.117del - r.(?) p.(Asn40Thrfs*18) - - Parent #1 g.223650del g.223535del c.G117G/del in exon 2 - SDHA_000060 compound heterozygous in patient PubMed: Ma - - Unknown - - - 0 - DNA SEQ - - ENC - PubMed: Ma 11 years old - - China - - 0 - - 1 Jean-Pierre Bayley
-?/. - c.133G>A likely benign r.(?) p.(Ala45Thr) - - Unknown g.223666G>A - SDHA(NM_004168.2):c.133G>A (p.A45T) - SDHA_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.136A>G - r.(?) p.(Lys46Glu) - - Parent #1 g.223669A>G g.223554A>G c.[136A>G]; [=] - SDHA_000054 VUS PubMed: Rattenberry - - Unknown - - - 0 - DNA SEQ-NG - - PGL - PubMed: Rattenberry - - - United Kingdom (Great Britain) - - 0 - - 1 Jean-Pierre Bayley
+?/. - c.150+1G>A likely pathogenic r.spl? p.? - - Unknown g.223684G>A - SDHA(NM_004168.2):c.150+1G>A - SDHA_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.163T>C VUS r.(?) p.(Tyr55His) - - Unknown g.224487T>C - SDHA(NM_004168.2):c.163T>C (p.(Tyr55His)) - SDHA_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 3 c.221dup - r.(?) p.(Leu74Phefs*9) - - Parent #2 g.224545dup g.224430dup c.T220T/insT in exon 3 - SDHA_000055 compound heterozygous in patient PubMed: Ma - - Unknown - - - 0 - DNA SEQ - - ENC - PubMed: Ma 11 years old - - China - - 0 - - 1 Jean-Pierre Bayley
?/. 3 c.223C>T - r.(?) p.(Arg75*) - - Parent #1 g.224547C>T g.224432C>T - - SDHA_000056 - PubMed: Welander, PubMed: Welander - - Unknown - - - 0 - DNA SEQ-NG - - PGL - PubMed: Welander, PubMed: Welander 20 year old female - - Sweden - - 0 - - 1 Jean-Pierre Bayley
?/. - c.224G>A VUS r.(?) p.(Arg75Gln) - - Unknown g.224548G>A - SDHA(NM_004168.3):c.224G>A (p.R75Q) - SDHA_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 3 c.248C>T - r.(?) p.(Ala83Val) 0 - Parent #1 g.224572C>T g.224457C>T A83V - SDHA_000006 - PubMed: Horvath - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - LS - - 1 isolated case - - - - - 0 - - 1 Jean-Pierre Bayley
+/? 3 c.248C>T - r.247_312del p.(Ala83Val) - - Maternal (confirmed) g.224572C>T g.224457C>T A83V - SDHA_000006 - - - - Unknown - - - 0 - DNA, RNA DSCA, RT-PCR, SEQ - - LS - - This patient is the same as described by {PMID16361598:Horvath et al. (2006)} - - - - - 0 - - 1 Herma Renkema
+?/+? 3 c.295C>T - r.(?) p.(His99Tyr) - - Unknown g.224619C>T g.224504C>T - - SDHA_000061 SDHB IHC Neg, SDHA IHC Neg. Carney triad - - - Unknown - - - 0 - DNA SEQ - - Carney complex variant - PubMed: Boikos Carney triad, the association of paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas F ? United States - - 0 - - 1 Jean-Pierre Bayley
+?/. - c.304G>A likely pathogenic r.(?) p.(Ala102Thr) - - Unknown g.224628G>A - SDHA(NM_004168.2):c.304G>A (p.(Ala102Thr)) - SDHA_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.305C>T likely pathogenic r.(?) p.(Ala102Val) - - Unknown g.224629C>T - SDHA(NM_004168.2):c.305C>T (p.(Ala102Val)) - SDHA_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.309A>G benign r.(?) p.(=) - - Unknown g.224633A>G - SDHA(NM_004168.2):c.309A>G (p.=) - SDHA_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.312+20C>T benign r.(=) p.(=) - - Unknown g.224656C>T - SDHA(NM_004168.3):c.312+20C>T - SDHA_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.313-19G>T likely benign r.(=) p.(=) - - Unknown g.225515G>T - SDHA(NM_004168.2):c.313-19G>T (p.?) - SDHA_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.313-19G>T likely benign r.(=) p.(=) - - Unknown g.225515G>T - SDHA(NM_004168.2):c.313-19G>T (p.?) - SDHA_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.313-19G>T likely benign r.(=) p.(=) - - Unknown g.225515G>T - SDHA(NM_004168.2):c.313-19G>T (p.?) - SDHA_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.313-16T>G benign r.(=) p.(=) - - Unknown g.225518T>G - SDHA(NM_004168.3):c.313-16T>G - SDHA_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 4 c.356G>A - r.(?) p.(Trp119*) - - Parent #2 g.225577G>A g.225462G>A W119X - SDHA_000007 - PubMed: Horvath - - Unknown - - - 0 - DNA, RNA RT-PCR, SEQ - - LS - - 1 isolated case - - - - - 0 - - 1 Jean-Pierre Bayley
+/? 4 c.356G>A - r.(?) p.(Trp119*) 0.16 - Paternal (confirmed) g.225577G>A g.225462G>A W119X - SDHA_000007 - - - - Unknown - - - 0 - DNA, RNA DSCA, RT-PCR, SEQ - - LS - - This patient is the same as described by {PMID16361598:Horvath et al. (2006)} - - - - - 0 - - 1 Herma Renkema
?/. 4 c.394T>C - r.(?) p.(Trp132Arg) - - Parent #1 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 - DNA SEQ - - PGL - PubMed: von Dobschuetz - - - - - - 0 - - 1 Jean-Pierre Bayley
-?/. - c.456+6G>T likely benign r.(=) p.(=) - - Unknown g.225683G>T - SDHA(NM_004168.2):c.456+6G>T (p.(=)) - SDHA_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.456+20G>C likely benign r.(=) p.(=) - - Unknown g.225697G>C - SDHA(NM_004168.2):c.456+20G>C (p.?) - SDHA_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.456+20G>C benign r.(=) p.(=) - - Unknown g.225697G>C - SDHA(NM_004168.2):c.456+20G>C (p.?) - SDHA_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.456+20G>C benign r.(=) p.(=) - - Unknown g.225697G>C - SDHA(NM_004168.2):c.456+20G>C (p.?) - SDHA_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 4i_5 c.457-2_457del - r.spl? p.? - - Parent #1 g.225996_225998delAGC g.225881_225883del c.457-3_457-1delCAG - SDHA_000058 LOH PubMed: Belinsky, PubMed: Pantaleo - - Unknown - - - 0 - DNA SEQb - - cancer - PubMed: Belinsky, PubMed: Pantaleo Wild type GIST - - United States - - 0 - - 2 Jean-Pierre Bayley
?/. 5 c.484A>T - r.(?) p.(Arg162*) - - Parent #1 g.226025A>T g.225910A>T - - SDHA_000059 - PubMed: Mason - - Somatic - - - 0 - DNA SEQ - - PGL - PubMed: Mason loss of SDHA staining - - Canada; United States - - 0 - - 1 Jean-Pierre Bayley
+?/+? 5 c.511C>T - r.(?) p.(Arg171Cys) - - Unknown g.226052C>T g.225937C>T R171C - SDHA_000017 (Somatic mutation?) PubMed: Pantaleo - - Somatic - - - 0 - DNA SEQ - - cancer - - 1 isolated case - - - - - 0 - - 1 Jean-Pierre Bayley
?/. 5 c.511C>T - r.(?) p.(Arg171Cys) - - Parent #1 g.226052C>T g.225937C>T - - SDHA_000017 - PubMed: Pantaleo - - Unknown - - - 0 - DNA SEQ - - cancer - PubMed: Pantaleo - - - Italy - - 0 - - 1 Jean-Pierre Bayley
?/. 5 c.549C>T - r.(=) p.(=) - - Parent #1 g.226090C>T g.225975C>T c.[549C>T]; [=] - SDHA_000045 VUS PubMed: Rattenberry - - Unknown - - - 0 - DNA SEQ-NG - - PGL - PubMed: Rattenberry - - - United Kingdom (Great Britain) - - 0 - - 1 Jean-Pierre Bayley
-/. - c.549C>T benign r.(?) p.(=) - - Unknown g.226090C>T - SDHA(NM_004168.2):c.549C>T (p.=) - SDHA_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.549C>T benign r.(?) p.(=) - - Unknown g.226090C>T - SDHA(NM_004168.2):c.549C>T (p.=) - SDHA_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.549C>T benign r.(?) p.(=) - - Unknown g.226090C>T - SDHA(NM_004168.2):c.549C>T (p.=) - SDHA_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.550G>A benign r.(?) p.(Gly184Arg) - - Unknown g.226091G>A - SDHA(NM_004168.2):c.550G>A (p.G184R) - SDHA_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.550G>A VUS r.(?) p.(Gly184Arg) - - Unknown g.226091G>A - SDHA(NM_004168.2):c.550G>A (p.G184R) - SDHA_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.550G>A benign r.(?) p.(Gly184Arg) - - Unknown g.226091G>A - SDHA(NM_004168.2):c.550G>A (p.G184R) - SDHA_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.562C>T - r.(?) p.(Arg188Trp) - - Parent #1 g.226103C>T g.225988C>T - - SDHA_000046 - PubMed: Miettinen - - Unknown - - - 0 - DNA SEQ - - cancer - PubMed: Miettinen SDHA positive GIST - - United States - - 0 - - 1 Jean-Pierre Bayley
+/? 5 c.565T>G - r.565u>g p.(Cys189Gly) - - Paternal (confirmed) g.226106T>G g.225991T>G - - SDHA_000020 - - - - Unknown - - - 0 - DNA, RNA DSCA, RT-PCR, SEQ - - LS - - - - - - - - 0 - - 1 Herma Renkema
-/. - c.619A>C benign r.(?) p.(=) - - Unknown g.226160A>C - SDHA(NM_004168.2):c.619A>C (p.=) - SDHA_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.621+60T>C benign r.(=) p.(=) - - Unknown g.226222T>C - SDHA(NM_004168.2):c.621+60T>C (p.?) - SDHA_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.622-31C>T likely benign r.(=) p.(=) - - Unknown g.228269C>T - SDHA(NM_004168.3):c.622-31C>T - SDHA_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.622-13del benign r.(=) p.(=) - - Unknown g.228287del - SDHA(NM_004168.3):c.622-13delT - SDHA_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.622-13del likely benign r.(=) p.(=) - - Unknown g.228287del - SDHA(NM_004168.3):c.622-13delT - SDHA_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.622-8T>C likely benign r.(=) p.(=) - - Unknown g.228292T>C - SDHA(NM_004168.3):c.622-8T>C - SDHA_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.622-7C>T likely benign r.(=) p.(=) - - Unknown g.228293C>T - SDHA(NM_004168.2):c.622-7C>T (p.(=)) - SDHA_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.629G>A - r.(?) p.(Arg210Gln) - - Parent #1 g.228307G>A g.228192G>A - - SDHA_000047 - PubMed: Welander - - Unknown - - - 0 - DNA SEQ-NG - - PGL - PubMed: Welander - - - Sweden - - 0 - - 1 Jean-Pierre Bayley
?/. - c.679G>A VUS r.(?) p.(Glu227Lys) - - Unknown g.228357G>A - SDHA(NM_001294332.1):c.535G>A (p.E179K) - SDHA_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.684T>C benign r.(?) p.(=) - - Unknown g.228362T>C - SDHA(NM_004168.2):c.684T>C (p.=) - SDHA_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.692G>T VUS r.(?) p.(Cys231Phe) - - Unknown g.228370G>T - SDHA(NM_004168.2):c.692G>T (p.(Cys231Phe)) - SDHA_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.723C>T likely benign r.(?) p.(=) - - Unknown g.228401C>T - SDHA(NM_004168.2):c.723C>T (p.=) - SDHA_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.723C>T likely benign r.(?) p.(=) - - Unknown g.228401C>T - SDHA(NM_004168.2):c.723C>T (p.=) - SDHA_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.723C>T likely benign r.(?) p.(=) - - Unknown g.228401C>T - SDHA(NM_004168.2):c.723C>T (p.=) - SDHA_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.723C>T likely benign r.(?) p.(=) - - Unknown g.228401C>T - SDHA(NM_004168.2):c.723C>T (p.=) - SDHA_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.724_735del - r.(?) p.(Gly242_His245del) - - Parent #1 g.228402_228413del g.228287_228298del c.725_736del - SDHA_000048 Compound heterozygous PubMed: Gill - - Unknown - - - 0 - DNA SEQ - - ? - PubMed: Gill - - - Australia - - 0 - - 1 Jean-Pierre Bayley
?/. - c.739A>G VUS r.(?) p.(Ile247Val) - - Unknown g.228417A>G - SDHA(NM_004168.3):c.739A>G (p.I247V) - SDHA_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 6 c.767C>T - r.(?) p.(Thr256Ile) - - Parent #1 g.228445C>T g.228330C>T - - SDHA_000049 - PubMed: Miettinen - - Unknown - - - 0 - DNA SEQ - - cancer - PubMed: Miettinen SDHA negative GIST - - United States - - 0 - - 1 Jean-Pierre Bayley
-?/. - c.770+19_770+23del likely benign r.(=) p.(=) - - Unknown g.228467_228471del - SDHA(NM_004168.2):c.770+17_770+21delTACTT - SDHA_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.771-11A>G benign r.(=) p.(=) - - Unknown g.230980A>G - SDHA(NM_004168.3):c.771-11A>G (p.?) - SDHA_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.771-11A>G benign r.(=) p.(=) - - Unknown g.230980A>G - SDHA(NM_004168.3):c.771-11A>G (p.?) - SDHA_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.801G>A likely benign r.(?) p.(=) - - Unknown g.231021G>A - SDHA(NM_001294332,NM_004168):c.801G>A (p.= (p.Thr267Thr)) - SDHA_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.806C>T VUS r.(?) p.(Ala269Val) - - Unknown g.231026C>T - SDHA(NM_004168.2):c.806C>T (p.(Ala269Val)) - SDHA_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 7 c.818C>T - r.(?) p.(Thr273Ile) - - Parent #1 g.231038C>T g.230923C>T p.(Thr273Ile) - SDHA_000050 - PubMed: Belinsky, PubMed: Miettinen - - Somatic - - - 0 - DNA SEQb - - cancer - PubMed: Belinsky, PubMed: Miettinen Wild type GIST, SDHA positive gist - - United States - - 0 - - 2 Jean-Pierre Bayley
?/. 7 c.822C>T - r.(=) p.(=) - - Parent #1 g.231042C>T g.230927C>T c.[822C>T];[=] - SDHA_000051 VUS PubMed: Rattenberry - - Unknown - - - 0 - DNA SEQ-NG - - PGL - PubMed: Rattenberry - - - United Kingdom (Great Britain) - - 0 - - 1 Jean-Pierre Bayley
-/. - c.822C>T benign r.(?) p.(=) - - Unknown g.231042C>T - SDHA(NM_004168.2):c.822C>T (p.=) - SDHA_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.822C>T benign r.(?) p.(=) - - Unknown g.231042C>T - SDHA(NM_004168.2):c.822C>T (p.=) - SDHA_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.889C>T VUS r.(?) p.(Pro297Ser) - - Unknown g.231109C>T - SDHA(NM_004168.2):c.889C>T (p.Pro297Ser) - SDHA_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.891T>C benign r.(?) p.(=) - - Unknown g.231111T>C - SDHA(NM_004168.3):c.891T>C (p.P297=) - SDHA_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.891T>C benign r.(?) p.(=) - - Unknown g.231111T>C - SDHA(NM_004168.3):c.891T>C (p.P297=) - SDHA_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.896-20A>G benign r.(=) p.(=) - - Unknown g.233572A>G - SDHA(NM_004168.2):c.896-20A>G (p.=) - SDHA_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 8 c.923C>T - r.(?) p.(Thr308Met) - - Parent #1 g.233619C>T g.233504C>T c.[923C>T];[=] - SDHA_000052 VUS PubMed: Rattenberry - - Unknown - - - 0 - DNA SEQ-NG - - PGL - PubMed: Rattenberry - - - United Kingdom (Great Britain) - - 0 - - 1 Jean-Pierre Bayley
-?/. - c.955A>C likely benign r.(?) p.(Ile319Leu) - - Unknown g.233651A>C - SDHA(NM_004168.3):c.955A>C (p.I319L) - SDHA_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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