Global Variome shared LOVD
SDHD (succinate dehydrogenase complex, subunit D, i...)
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Curator:
Jean-Pierre Bayley
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Leiden University Medical Center SDHD gene variant database
FH (fumarate hydratase)
SDHA (succinate dehydrogenase, subunit A)
SDHAF2 (succinate dehydrogenase, complex assembly factor 2)
SDHB (succinate dehydrogenase, subunit B)
SDHC (succinate dehydrogenase, subunit C)
SDHD (succinate dehydrogenase, subunit D)
The variants shown are described using the NM_003002.2 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Predicted
: predicted consequence of variant (RNA/protein level)
All options:
missense
nonsense
frameshift
no-stop
silent
splicing affected
splicing affected, exon skipped
splicing affected?
deletion
deletion, small
deletion, large
deletion, exon
deletion, multi exon
duplication
duplication, small
duplication, large
insertion
insertion, small
insertion, large
delins = insertion/deletion
conversion
other/complex
Predict/MutationTaster
: Mutation Taster prediction variant; disease causing, polymorphism
Predict/AGVGD
: Align GVGD score; C0, C15, C25, C35, C45, C55 or C65
Predict/SIFT
: SIFT predicted effect of variant
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
conflicting
association
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arrayMET = array for methylation analysis
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = single molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
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>=23
all entries higher than, or equal to, 23
combination
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all entries with values from 20 to 29, but not equal to 23
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Matches
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all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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all entries containing 'Asian' but not containing 'Caucasian'
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all entries containing 'Asian' or 'African', but not containing 'Caucasian'
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all entries containing 'South Asian', but not containing 'South East Asian'
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484 entries on 5 pages. Showing entries 1 - 100.
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Effect
Exon
DNA change (cDNA)
Protein
Predicted
Predict/MutationTaster
Predict/AGVGD
Predict/SIFT
RNA change
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
p.?
deletion, large
-
-
-
r.?
Unknown
-
pathogenic
g.111931979_111959014del
g.112061255_112088290del
Chromosome 11q deletion
-
SDHD_000128
(27036 bp del) - breakpoints in MER2B and AluSx repeats
PubMed: Cadiñanos
-
-
Germline
-
-
-
-
-
DNA
MLPA, SEQ
-
-
?
-
-
1 isolated case
-
-
Spain
-
-
-
-
-
1
Jean-Pierre Bayley
+/+
_1_2i
c.-8828_169+442del
p.?
deletion, large
-
-
-
r.?
Unknown
-
pathogenic
g.111948804_111959139del
g.112078080_112088415del
Deletion Exon 1 & 2
-
SDHD_000121
Deletion also affects entire TIMM8B gene
PubMed: Bayley
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
PGL
-
-
1 isolated case
-
-
Netherlands
-
-
-
-
-
1
Jean-Pierre Bayley
+/+
_1_2i
c.-8828_169+442del
p.0?
-
-
-
-
r.0?
Paternal (confirmed)
-
pathogenic
g.111948804_111959139del
g.112078080_112088415del
1-8828_169+442del
-
SDHD_000121
-
Journal: Heesterman 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PGL1
EJHG-Pat206
Journal: Heesterman 2018
-
M
-
Netherlands
-
-
-
-
-
1
Berdine Heesterman
+/+
_1_2i
c.-8828_169+442del
p.0?
-
-
-
-
r.0?
Paternal (confirmed)
-
pathogenic
g.111948804_111959139del
g.112078080_112088415del
1-8828_169+442del
-
SDHD_000121
-
Journal: Heesterman 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PGL1
EJHG-Pat207
Journal: Heesterman 2018
-
M
-
Netherlands
-
-
-
-
-
1
Berdine Heesterman
+/+
_1_2i
c.-8828_169+442del
p.0?
-
-
-
-
r.0?
Paternal (confirmed)
-
pathogenic
g.111948804_111959139del
g.112078080_112088415del
1-8828_169+442del
-
SDHD_000121
-
Journal: Heesterman 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PGL1
EJHG-Pat208
Journal: Heesterman 2018
-
M
-
Netherlands
-
-
-
-
-
1
Berdine Heesterman
+/+
_1_2i
c.-8828_169+442del
p.0?
-
-
-
-
r.0?
Paternal (confirmed)
-
pathogenic
g.111948804_111959139del
g.112078080_112088415del
1-8828_169+442del
-
SDHD_000121
-
Journal: Heesterman 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PGL1
EJHG-Pat209
Journal: Heesterman 2018
-
F
-
Netherlands
-
-
-
-
-
1
Berdine Heesterman
+/+
_1_2i
c.-1427_169+29del
p.?
deletion, large
-
-
-
r.?
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
-
-
-
-
-
DNA
MLPA
-
-
PGL
-
-
1 isolated case
-
-
Netherlands
-
-
-
-
-
1
Jean-Pierre Bayley
?/.
-
c.-236C>T
p.(=)
-
-
-
-
r.(?)
Unknown
-
VUS
g.111957396C>T
g.112086672C>T
TIMM8B(NM_012459.2):c.97G>A (p.(Ala33Thr))
-
TIMM8B_000001
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/+
_1_2i
c.(?_-61)_(169+1_170-1)del
p.?
deletion, large
-
-
-
r.?
Unknown
-
pathogenic
g.(?_111957571)_(111958698_111959590)del
-
Deletion Exons 1-2
-
SDHD_000116
-
PubMed: Neumann
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
-
-
-
-
Germany
-
-
-
-
-
1
Jean-Pierre Bayley
?/+
_1_4_
c.(?_-61)_(*824_?)del
p.?
deletion, large
-
-
-
r.?
Parent #1
-
pathogenic
g.(?_111957571)_(111966518_?)del
-
approximately 96-kb deletion spanning SDHD
-
SDHD_000025
0/1 controls
PubMed: McWhinney
-
-
Germline
-
-
-
-
-
DNA
SEQ, PCRsqd
-
-
PGL
-
-
1 family 6 affected
-
-
United States
-
-
-
-
-
1
Jean-Pierre Bayley
?/+
_1_4_
c.(?_-61)_(*824_?)del
p.?
-
-
-
-
r.?
Unknown
-
pathogenic
g.(?_111957571)_(111966518_?)del
-
Deletion Exons 1-4
-
SDHD_000025
-
PubMed: Neumann
,
PubMed: Piccini
-
-
Germline
-
-
-
-
-
DNA
PCRsqd
-
-
PGL
-
-
2 families 2 affected; 1 isolated case
-
-
Germany
-
-
-
-
-
2
Jean-Pierre Bayley
-?/.
-
c.-19T>C
p.(=)
-
-
-
-
r.(?)
Unknown
-
likely benign
g.111957613T>C
g.112086889T>C
-
-
SDHD_000175
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/+
1
c.1A>G
p.(Met1?)
nonsense
-
-
-
r.(?)
Parent #1
-
pathogenic
g.111957632A>G
g.112086908A>G
A-->G (M1V)
-
SDHD_000021
0/117 controls, LOH in tumor
PubMed: Riemann
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
-
OMIM602690:0021; 3 isolated cases
-
-
Germany
-
-
-
-
-
1
Jean-Pierre Bayley
+/+
1
c.1A>G
p.(Met1?)
-
-
-
-
r.(?)
Unknown
-
pathogenic
g.111957632A>G
g.112086908A>G
-
-
SDHD_000021
-
PubMed: Wang
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
-
1 family 3 affected; 1 isolated case
-
-
China
-
-
-
-
-
2
Yang Zha
+?/+?
1
c.2T>A
p.(Met1?)
nonsense
-
-
-
r.(?)
Unknown
-
pathogenic
g.111957633T>A
g.112086909T>A
p.Met1Lys
-
SDHD_000142
-
PubMed: Piccini
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
-
1 isolated case
-
-
Italy
-
-
-
-
-
1
Jean-Pierre Bayley
?/.
1
c.2T>C
p.(Met1?)
nonsense
-
-
-
r.(?)
Parent #1
-
pathogenic
g.111957633T>C
g.112086909T>C
-
-
SDHD_000170
No start codon. First ATG out of frame
PubMed: Buffet
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
PubMed: Buffet
-
-
-
France
-
-
-
-
-
1
Jean-Pierre Bayley
+/+
1
c.2_3inv
p.(Met1?)
nonsense
-
-
-
r.(?)
Unknown
-
pathogenic
g.111957633_111957634inv
g.112086909_112086910inv
M1S
-
SDHD_000109
-
-
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
-
-
-
-
China
-
-
-
-
-
-
Yang Zha
+/+
1
c.3G>A
p.(Met1?)
nonsense
-
-
-
r.(?)
Unknown
-
pathogenic
g.111957634G>A
g.112086910G>A
-
-
SDHD_000091
-
PubMed: Cascon
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
-
1 isolated case
-
-
Spain
-
-
-
-
-
1
Jean-Pierre Bayley
?/+
1
c.3G>C
p.(Met1?)
-
-
-
-
r.(?)
Parent #1
-
pathogenic
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
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
-
OMIM602690:0015; 7 families 17 affected
-
-
China
-
-
-
-
-
6
Jean-Pierre Bayley
+/?
1
c.3G>C
p.(Met1?)
-
-
-
-
r.(?)
Unknown
-
pathogenic
g.111957634G>C
g.112086910G>C
-
-
SDHD_000015
-
-
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
-
-
-
-
China
-
-
-
-
-
3
Yang Zha
+/+
1
c.3G>C
p.(Met1?)
nonsense
-
-
-
r.(?)
Paternal (confirmed)
-
pathogenic
g.111957634G>C
g.112086910G>C
Met1lle
-
SDHD_000015
-
Journal: Heesterman 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PGL1
EJHG-Pat220
Journal: Heesterman 2018
-
F
-
Netherlands
-
-
-
-
-
1
Berdine Heesterman
?/+
1
c.14G>A
p.(Trp5*)
nonsense
-
-
-
r.(?)
Parent #1
-
pathogenic
g.111957645G>A
g.112086921G>A
14 G/A Trp5-->Stop
-
SDHD_000026
-
PubMed: Cascon
,
PubMed: Neumann
,
PubMed: Neumann
,
PubMed: Badenhop
-
-
Germline
-
-
-
-
-
DNA
SEQ, SSCA
-
-
PGL
-
-
3 families 8 affected; 3 isolated cases
-
-
Germany;Poland; Spain
-
-
-
-
-
4
Jean-Pierre Bayley
?/.
1
c.19_35del
p.(Leu7Cysfs*56)
frameshift
-
-
-
r.(?)
Parent #1
-
pathogenic
g.111957650_111957666del
g.112086926_112086942del
c.19_35delCTGAGTGCCGTTTGCGG
-
SDHD_000165
-
PubMed: Rapizzi
-
-
Somatic
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
PubMed: Rapizzi
-
-
-
Italy
-
-
-
-
-
1
Jean-Pierre Bayley
?/+
1
c.21del
p.(Ser8Valfs*7)
frameshift
-
-
-
r.(?)
Parent #1
-
pathogenic
g.111957652del
g.112086928del
L7fsX14
-
SDHD_000056
Australia
PubMed: Benn
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
-
1 family 1 affected
-
-
France
-
-
-
-
-
1
Jean-Pierre Bayley
-?/.
-
c.27C>G
p.(Ala9=)
silent
-
-
-
r.(?)
Unknown
-
likely benign
g.111957658C>G
-
-
-
C11orf57_000001
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/+
1
c.28_33delinsTAGGAGGCCCTA
p.(Val10*)
nonsense
-
-
-
r.(?)
Unknown
-
pathogenic
g.111957659_111957664delinsTAGGAGGCCCTA
g.112086935_112086940delinsTAGGAGGCCCTA
Insertion of a TAG stop codon
-
SDHD_000078
-
PubMed: Neumayer
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
-
1 family 2 affected
-
-
Austria
-
-
-
-
-
1
Jean-Pierre Bayley
?/+
1
c.33C>A
p.(Cys11*)
nonsense
-
-
-
r.(?)
Parent #1
-
pathogenic
g.111957664C>A
g.112086940C>A
-
-
SDHD_000027
-
PubMed: Neumann
,
PubMed: Neumann
,
PubMed: Peczkowska
-
-
Germline
-
-
-
-
-
DNA
SEQ, SSCA
-
-
PGL
-
-
18 families 33 affected; 9 isolated cases
-
-
Germany;Poland
-
-
-
-
-
3
Jean-Pierre Bayley
+/.
-
c.33C>A
p.(Cys11*)
-
-
-
-
r.(?)
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
-
-
-
-
-
DNA
SEQ-NG-S
-
-
?
-
-
-
M
-
Germany
-
-
-
-
-
1
Andreas Laner
-/-
1
c.33C>T
p.(=)
silent
-
-
-
r.(?)
Unknown
-
benign
g.111957664C>T
g.112086940C>T
-
-
SDHD_000110
-
PubMed: Neumann
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
-
2 families 2 affected
-
-
-
-
-
-
-
-
1
Jean-Pierre Bayley
?/-
1
c.34G>A
p.(Gly12Ser)
missense
0.574
55.27
0.76
r.(?)
Parent #1
-
benign
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%
-
-
-
DNA
SSCA, SEQ, DHPLC
-
-
Healthy/Control
-
-
OMIM602690:0011
-
-
-
-
-
-
-
-
12
Jean-Pierre Bayley
-/.
-
c.34G>A
p.(Gly12Ser)
-
-
-
-
r.(?)
Unknown
-
benign
g.111957665G>A
g.112086941G>A
SDHD(NM_001276503.1):c.34G>A (p.(Gly12Ser)), SDHD(NM_001276506.2):c.34G>A (p.G12S), SDHD(NM_003002.4):c.34G>A (p.G12S)
-
SDHD_000011
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.34G>A
p.(Gly12Ser)
-
-
-
-
r.(?)
Unknown
-
benign
g.111957665G>A
g.112086941G>A
SDHD(NM_001276503.1):c.34G>A (p.(Gly12Ser)), SDHD(NM_001276506.2):c.34G>A (p.G12S), SDHD(NM_003002.4):c.34G>A (p.G12S)
-
SDHD_000011
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.34G>A
p.(Gly12Ser)
-
-
-
-
r.(?)
Unknown
-
likely benign
g.111957665G>A
g.112086941G>A
SDHD(NM_001276503.1):c.34G>A (p.(Gly12Ser)), SDHD(NM_001276506.2):c.34G>A (p.G12S), SDHD(NM_003002.4):c.34G>A (p.G12S)
-
SDHD_000011
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.34G>A
p.(Gly12Ser)
-
-
-
-
r.(?)
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
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
9
Mohammed Faruq
?/.
-
c.34G>A
p.(Gly12Ser)
-
-
-
-
r.(?)
Parent #1
-
benign
g.111957665G>A
g.112086941G>A
-
-
SDHD_000011
-
PubMed: Taylor 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
?
Pat42
PubMed: Taylor 2014
-
M
-
Hungary
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.34G>A
p.(Gly12Ser)
-
-
-
-
r.(?)
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
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
2
Mohammed Faruq
-/.
-
c.34G>A
p.(Gly12Ser)
-
-
-
-
r.(?)
Unknown
-
benign
g.111957665G>A
-
SDHD(NM_001276503.1):c.34G>A (p.(Gly12Ser)), SDHD(NM_001276506.2):c.34G>A (p.G12S), SDHD(NM_003002.4):c.34G>A (p.G12S)
-
SDHD_000011
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.34G>A
p.(Gly12Ser)
-
-
-
-
r.(?)
Unknown
-
likely benign
g.111957665G>A
-
-
-
SDHD_000011
-
-
-
rs34677591
Unknown
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
1
c.36dup
p.(Ala13Cysfs*56)
duplication
-
-
-
r.(?)
Unknown
-
pathogenic
g.111957667dup
-
-
-
SDHD_000185
-
PubMed: Andrews
-
-
Germline
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/+
1
c.36_37del
p.(Ala13Profs*55)
frameshift
-
-
-
r.(?)
Parent #1
-
pathogenic
g.111957667_111957668del
g.112086943_112086944del
c.36, 37 del TG (Frame shift)
-
SDHD_000028
-
PubMed: Neumann
,
PubMed: Neumann
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
PGL
-
-
1 family 3 affected; 1 isolated case
-
-
Germany;Poland
-
-
-
-
-
2
Jean-Pierre Bayley
+?/+?
-
c.47_52+1delCCGAGGT
p.?
splicing affected?
-
-
-
r.spl?
Unknown
-
likely pathogenic
g.111957678_111957684del
-
-
-
SDHD_000186
Two cases
PubMed: Andrews
-
-
Germline
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/+
1
c.49C>T
p.(Arg17*)
nonsense
-
-
-
r.(?)
Unknown
-
pathogenic
g.111957680C>T
g.112086956C>T
R17X
-
SDHD_000085
-
PubMed: Papaspyrou
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
-
1 family 2 affected
-
-
Greece
-
-
-
-
-
1
Jean-Pierre Bayley
+/+
1
c.49C>T
p.(Arg17*)
-
-
-
-
r.(?)
Unknown
-
pathogenic
g.111957680C>T
g.112086956C>T
-
-
SDHD_000085
-
PubMed: Neumann
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
-
1 isolated case
-
-
-
-
-
-
-
-
1
Jean-Pierre Bayley
?/-?
1
c.50G>T
p.(Arg17Leu)
missense
0.626
101.88
0.19
r.(?)
Parent #1
-
likely benign
g.111957681G>T
g.112086957G>T
-
-
SDHD_000077
Poorly conserved AA in poorly conserved region. Medium Grantham score (102)/ Likely benign.
Garcia-Rostan
PubMed: Lima
-
-
Germline
-
-
-
-
-
DNA
SEQ, SSCA
-
-
PGL
-
-
1 family 2 affected; 1 isolated case
-
-
Portugal
-
-
-
-
-
1
Jean-Pierre Bayley
?/+?
1i
c.52+2T>G
p.?
splicing affected?
-
-
-
r.spl
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
-
-
-
-
-
DNA
SSCA, SEQ
-
-
PGL
-
-
OMIM602690:0010; 1 family 2 affected; 2 isolated cases
-
-
Germany
-
-
-
-
-
3
Jean-Pierre Bayley
+/+
1i_2i
c.52+5_169+325delins235
p.?
deletion, large
-
-
-
r.?
Unknown
-
pathogenic
g.111957688_111959022delins235?
-
Deletion Exon 2
-
SDHD_000123
-
PubMed: Bayley
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
PGL
-
-
1 isolated case
-
-
Netherlands
-
-
-
-
-
1
Jean-Pierre Bayley
?/.
1i
c.53-52_53-49del
p.(=)
-
-
-
-
r.(?)
Parent #1
-
VUS
g.111958529_111958532del
g.112087805_112087808del
c.53?52_?55delGTCA
-
SDHD_000166
-
PubMed: Persu
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
PubMed: Persu
-
-
-
Belgium
-
-
-
-
-
1
Jean-Pierre Bayley
+?/+?
1i
c.53-2A>G
p.?
splicing affected?
-
-
-
r.spl
Unknown
-
likely pathogenic
g.111958579A>G
g.112087855A>G
-
-
SDHD_000111
Aberrant splicing?
PubMed: Neumann
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
-
2 families 2 affected
-
-
Germany
-
-
-
-
-
1
Jean-Pierre Bayley
+/+?
1i
c.53-2A>G
p.?
-
-
-
-
r.spl
Unknown
-
pathogenic
g.111958579A>G
g.112087855A>G
-
-
SDHD_000111
Skipping of exon 2
PubMed: Hermsen
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
-
1 family 1 affected
-
-
Spain
-
-
-
-
-
1
Jean-Pierre Bayley
-?/.
-
c.53C>T
p.(Ala18Val)
missense
0.484
64.43
1.00
r.(?)
Unknown
-
likely benign
g.111958581C>T
g.112087857C>T
SDHD(NM_001276506.1):c.53C>T (p.A18V), SDHD(NM_001276506.2):c.53C>T (p.A18V), SDHD(NM_003002.4):c.53C>T (p.A18V)
-
SDHD_000173
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.53C>T
p.(Ala18Val)
-
-
-
-
r.(?)
Unknown
-
likely benign
g.111958581C>T
g.112087857C>T
SDHD(NM_001276506.1):c.53C>T (p.A18V), SDHD(NM_001276506.2):c.53C>T (p.A18V), SDHD(NM_003002.4):c.53C>T (p.A18V)
-
SDHD_000173
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.53C>T
p.(Ala18Val)
-
-
-
-
r.(?)
Unknown
-
likely benign
g.111958581C>T
-
SDHD(NM_001276506.1):c.53C>T (p.A18V), SDHD(NM_001276506.2):c.53C>T (p.A18V), SDHD(NM_003002.4):c.53C>T (p.A18V)
-
SDHD_000173
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
-
c.53dup
p.(Leu19Serfs*50)
frameshift
-
-
-
r.(?)
Unknown
-
pathogenic
g.111958581dup
-
-
-
SDHD_000187
-
PubMed: Andrews
-
-
Germline
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
-
c.55del
p.(Leu19Cysfs*67)
frameshift
-
-
-
r.(?)
Unknown
-
pathogenic
g.111958583del
-
-
-
SDHD_000196
-
PubMed: Bayley
-
-
Germline
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/+
1
c.55_56dup
p.(Leu20Cysfs*67)
frameshift
-
-
-
r.(?)
Unknown
-
pathogenic
g.111958583_111958584dup
g.112087859_112087860dup
g.6759 insC Frameshift after A18
-
SDHD_000018
-
PubMed: Taschner
-
-
Germline
-
-
-
-
-
DNA
SEQ, SSCA
-
-
PGL
-
-
1 family 3 affected
-
-
United States
-
-
-
-
-
1
Jean-Pierre Bayley
?/+
1
c.57del
p.(Leu20Cysfs*66)
frameshift
-
-
-
r.(?)
Unknown
-
pathogenic
g.111958585del
g.112087861del
-
-
SDHD_000080
-
PubMed: Pasini
,
PubMed: Ghayee
,
PubMed: Lodish
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
cancer, PGL
-
-
1 family 1 affected; 1 isolated case
-
-
United States
-
-
-
-
-
2
Jean-Pierre Bayley
?/+
2
c.64C>T
p.(Arg22*)
nonsense
-
-
-
r.(?)
Parent #1
-
pathogenic
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
-
-
-
-
-
DNA
SEQ, SSCA
-
-
PGL
-
-
OMIM602690:0012; 7 families 12 affected; 3 isolated cases
-
-
Canada; France; Australia; Spain; Italy
-
-
-
-
-
7
Jean-Pierre Bayley
?/-
2
c.90T>C
p.(=)
silent
-
-
-
r.(?)
Parent #1
-
likely benign
g.111958618T>C
g.112087894T>C
p.His30His
-
SDHD_000024
0/150-200
PubMed: Cascon
-
-
Germline
-
> 1 %
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
-
-
-
Spain
-
-
-
-
-
1
Jean-Pierre Bayley
+/+
-
c.91dup
p.(Ile31Asnfs*38)
frameshift
-
-
-
r.(?)
Unknown
-
pathogenic
g.111958619dup
-
-
-
SDHD_000188
-
PubMed: Andrews
-
-
Germline
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/+
2
c.94_95del
p.(Ala33Ilefs*35)
-
-
-
-
r.(?)
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
-
-
-
-
-
DNA
SEQ, SSCA
-
-
PGL
-
-
OMIM602690:0017; 4 families; 2 isolated cases
-
-
United Kingdom (Great Britain); United States
-
-
-
-
-
2
Jean-Pierre Bayley
+/.
-
c.94_95del
p.(Ala33Ilefs*35)
frameshift
-
-
-
r.(?)
Unknown
-
pathogenic (dominant)
g.111958622_111958623del
g.112087898_112087899del
-
-
SDHD_000017
-
PubMed: Kim 2021
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
?
-
PubMed: Kim 2021
-
-
-
Korea
-
-
-
-
-
1
Johan den Dunnen
?/+
2
c.95C>A
p.(Ser32*)
nonsense
-
-
-
r.(?)
Parent #1
-
pathogenic
g.111958623C>A
g.112087899C>A
p.S32X
-
SDHD_000008
-
PubMed: Milunsky
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
-
OMIM602690:0008; 1 family
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Jean-Pierre Bayley
+/+
-
c.98_108del
p.(Ala33Glyfs*32)
frameshift
-
-
-
r.(?)
Unknown
-
pathogenic
g.111958626_111958636del
-
-
-
SDHD_000189
-
PubMed: Andrews
-
-
Germline
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/+
2
c.106C>T
p.(Gln36*)
nonsense
-
-
-
r.(?)
Parent #1
-
pathogenic
g.111958634C>T
g.112087910C>T
CAG -> TAG Gln36 ->Stop
-
SDHD_000001
-
PubMed: Baysal
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
PGL
-
-
OMIM602690:0001; 1 family
-
-
United States
-
-
-
-
-
1
Jean-Pierre Bayley
?/+
2
c.112C>T
p.(Arg38*)
-
-
-
-
r.(?)
Parent #1
-
pathogenic
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
-
-
-
-
-
DNA
SEQ, SSCA
-
-
PGL
-
-
OMIM602690:0002; 5 families 26 affected; 5 isolated cases
-
-
United States; Germany;Poland
-
-
-
-
-
7
Jean-Pierre Bayley
+/+
2
c.112C>T
p.(Arg38*)
-
-
-
-
r.(?)
Unknown
-
pathogenic
g.111958640C>T
g.112087916C>T
R38X
-
SDHD_000002
-
-
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
-
-
-
-
China
-
-
-
-
-
-
Yang Zha
+/.
-
c.112C>T
p.(Arg38*)
nonsense
-
-
-
r.(?)
Unknown
-
pathogenic
g.111958640C>T
g.112087916C>T
-
-
SDHD_000002
-
PubMed: Kim 2021
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
?
-
PubMed: Kim 2021
-
-
-
Korea
-
-
-
-
-
1
Johan den Dunnen
?/.
2
c.116del
p.(Pro39Leufs*47)
frameshift
-
-
-
r.(?)
Parent #1
-
pathogenic
g.111958644del
g.112087920del
-
-
SDHD_000167
-
PubMed: Persu
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
PubMed: Persu
1 families 1 affected
-
-
Belgium
-
-
-
-
-
1
Jean-Pierre Bayley
+/+
-
c.116_117insGATA
p.(Pro41Tyrfs*29)
frameshift
-
-
-
r.(?)
Unknown
-
pathogenic
g.111958644_111958645insGATA
-
-
-
SDHD_000190
-
PubMed: Andrews
-
-
Germline
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/-?
2
c.118A>G
p.(Ile40Val)
missense
0.509
29.61
0.55
r.(?)
Unknown
-
likely benign
g.111958646A>G
g.112087922A>G
-
-
SDHD_000107
Poorly conserved in poorly conserved region. Extremely low Grantham score (29). Likely benign.
-
-
-
Unknown
-
0/274
-
-
-
DNA
SSCA
-
-
?
-
-
-
-
-
Portugal
-
-
-
-
-
1
Ginesa Garcia-Rostan
?/.
2
c.119_125del
p.(Ile40Asnfs*44)
frameshift
-
-
-
r.(?)
Parent #1
-
pathogenic
g.111958647_111958653del
g.112087923_112087929del
-
-
SDHD_000168
-
PubMed: Buffet
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
PubMed: Buffet
-
-
-
France
-
-
-
-
-
1
Jean-Pierre Bayley
?/+
2
c.120_127del
p.(Ile40Metfs*26)
frameshift
-
-
-
r.(?)
Unknown
-
pathogenic
g.111958648_111958655del
g.112087924_112087931del
-
-
SDHD_000075
-
PubMed: Lima
,
PubMed: Sevilla
-
-
Unknown
-
-
-
-
-
DNA
SEQ, SSCA
-
-
PGL
-
-
1 family 2 affected
-
-
Portugal
-
-
-
-
-
2
Ginesa Garcia-Rostan
?/+
2
c.122dup
p.(Glu42Argfs*27)
frameshift
-
-
-
r.(?)
Parent #1
-
pathogenic
g.111958650dup
g.112087926dup
g.6825 insC Frameshift after P41
-
SDHD_000032
-
PubMed: Taschner
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
PGL
-
-
1 family 5 affected
-
-
Netherlands
-
-
-
-
-
1
Jean-Pierre Bayley
?/-?
2
c.125A>C
p.(Glu42Ala)
missense
0.517
106.71
0.55
r.(?)
Parent #1
-
likely benign
g.111958653A>C
g.112087929A>C
-
-
SDHD_000033
not conserved, 0/150-200 controls, located near 2 known polymorphisms. Low Grantham score (42).
PubMed: Cascon
-
-
Germline
-
> 1 %
-
-
-
DNA
SEQ
-
-
PGL
-
-
1 isolated case
-
-
Spain
-
-
-
-
-
1
Jean-Pierre Bayley
?/+
2
c.129G>A
p.(Trp43*)
nonsense
-
-
-
r.(?)
Parent #1
-
pathogenic
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
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
PubMed: Ayala-Ramirez
OMIM602690:0023; 5 families 25 affected; 4 isolated cases
-
-
Spain; United States; France
-
-
-
-
-
10
Jean-Pierre Bayley
?/-
2
c.138G>A
p.(=)
silent
-
-
-
r.(?)
Parent #1
-
likely benign
g.111958666G>A
g.112087942G>A
p.Val46Val
-
SDHD_000065
-
DBSubm003
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
patient with PC
-
-
Serbia
-
-
-
-
-
1
Jovana Vignjevic
?/.
2
c.139C>T
p.(Gln47*)
nonsense
-
-
-
r.(?)
Parent #1
-
pathogenic
g.111958667C>T
g.112087943C>T
-
-
SDHD_000169
-
PubMed: Buffet
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
PubMed: Buffet
-
-
-
France
-
-
-
-
-
1
Jean-Pierre Bayley
+/+
-
c.144_145dup
p.(Ile49Thrfs*38)
frameshift
-
-
-
r.(?)
Unknown
-
pathogenic
g.111958672_111958673dup
-
-
-
SDHD_000191
-
PubMed: Andrews
-
-
Germline
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/+
2
c.147dup
p.(His50Thrfs*19)
frameshift
-
-
-
r.(?)
Parent #1
-
pathogenic
g.111958675dup
g.112087951dup
c.147-148insA, p.H50fsX68
-
SDHD_000052
-
PubMed: Astrom
,
PubMed: Lendvai
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
-
2 families 4 affected
-
-
Turkey; Hungary
-
-
-
-
-
2
Jean-Pierre Bayley
-?/-?
2
c.149A>G
p.(His50Arg)
missense
0.681
28.82
0.00
r.(?)
Parent #1
-
likely benign
g.111958677A>G
g.112087953A>G
-
-
SDHD_000019
Relatively common variant (0.009% in European population). Found 1811 times in gnomAD. Extremely low Grantham score.
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
-
-
-
-
Germany
-
-
-
-
-
1
Andreas Laner
?/-
2
c.149A>G
p.(His50Arg)
-
-
-
-
r.(?)
Parent #1
-
likely benign
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%
-
-
-
DNA
DHPLC, SEQ, SSCA
-
-
Healthy/Control
-
-
OMIM602690:0019
-
-
-
-
-
-
-
-
7
Jean-Pierre Bayley
-/.
-
c.149A>G
p.(His50Arg)
-
-
-
-
r.(?)
Unknown
-
benign
g.111958677A>G
g.112087953A>G
SDHD(NM_001276506.1):c.149A>G (p.H50R), SDHD(NM_003002.4):c.149A>G (p.H50R)
-
SDHD_000019
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.149A>G
p.(His50Arg)
-
-
-
-
r.(?)
Unknown
-
likely benign
g.111958677A>G
g.112087953A>G
SDHD(NM_001276506.1):c.149A>G (p.H50R), SDHD(NM_003002.4):c.149A>G (p.H50R)
-
SDHD_000019
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.149A>G
p.(His50Arg)
-
-
-
-
r.(?)
Unknown
-
likely benign
g.111958677A>G
g.112087953A>G
SDHD(NM_001276506.1):c.149A>G (p.H50R), SDHD(NM_003002.4):c.149A>G (p.H50R)
-
SDHD_000019
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.149A>G
p.(His50Arg)
-
-
-
-
r.(?)
Parent #1
-
likely benign
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
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
7
Mohammed Faruq
-?/.
-
c.149A>G
p.(His50Arg)
-
-
-
-
r.(?)
Unknown
-
likely benign
g.111958677A>G
-
-
-
SDHD_000019
-
-
-
rs11214077
Unknown
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/+
2
c.149dup
p.(His50Glnfs*19)
frameshift
-
-
-
r.(?)
Parent #1
-
pathogenic
g.111958677dup
g.112087953dup
p.His50fs, H50fsX68
-
SDHD_000057
-
PubMed: Amar
,
PubMed: Benn
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
-
2 families 2 affected
-
-
France
-
-
-
-
-
2
Jean-Pierre Bayley
?/?
2
c.149dup
p.(His50Glnfs*19)
-
-
-
-
r.(?)
Unknown
-
pathogenic
g.111958677dup
g.112087953dup
p.His50fs, H50fsX68
-
SDHD_000057
-
PubMed: Lendvai
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
-
1 family 1 affected
M
-
Hungary
-
-
-
-
-
1
Jean-Pierre Bayley
?/.
2
c.149dup
p.(His50Glnfs*19)
-
-
-
-
r.(?)
Parent #1
-
pathogenic
g.111958677dup
g.112087953dup
-
-
SDHD_000057
-
PubMed: Buffet
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
PubMed: Buffet
-
-
-
France
-
-
-
-
-
1
Jean-Pierre Bayley
?/?
2
c.158C>T
p.(Pro53Leu)
missense
0.778
97.78
0.01
r.(?)
Parent #1
-
VUS
g.111958686C>T
g.112087962C>T
-
-
SDHD_000145
Conserved in fungi. Found 12 times in gnomAD. Medium Grantham score (98). VUS/likely pathogenic?
PubMed: Lefebvre
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
PubMed: Lefebvre
-
-
-
France
-
-
-
-
-
1
Jean-Pierre Bayley
?/.
-
c.158C>T
p.(Pro53Leu)
-
-
-
-
r.(?)
Unknown
-
VUS
g.111958686C>T
g.112087962C>T
SDHD(NM_003002.4):c.158C>T (p.(Pro53Leu), p.P53L)
-
SDHD_000145
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.158C>T
p.(Pro53Leu)
-
-
-
-
r.(?)
Unknown
-
VUS
g.111958686C>T
-
SDHD(NM_003002.4):c.158C>T (p.(Pro53Leu), p.P53L)
-
SDHD_000145
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
2
c.166del
p.(His56Ilefs*30)
frameshift
-
-
-
r.(?)
Parent #1
-
pathogenic
g.111958694del
g.112087970del
-
-
SDHD_000146
-
PubMed: Buffet
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
PubMed: Buffet
-
-
-
France
-
-
-
-
-
1
Jean-Pierre Bayley
?/+
2
c.168_169del
p.(Ser57Trpfs*11)
frameshift
-
-
-
r.(?)
Parent #1
-
pathogenic
g.111958696_111958697del
g.112087972_112087973del
170-171delTT
-
SDHD_000054
-
PubMed: Velasco
,
PubMed: Cascon
-
-
Germline
-
-
-
-
-
DNA
SEQ, SSCA
-
-
PGL
-
-
1 family 4 affected
-
-
Spain
-
-
-
-
-
2
Jean-Pierre Bayley
?/+?
2_2i
c.169_169+9del
p.?
splicing affected?
-
-
-
r.spl
Parent #1
-
likely pathogenic
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
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
-
-
-
-
Netherlands
Hindu
-
-
-
-
1
Janneke Weiss
+?/+?
2_2i
c.169_169+9del
p.?
-
-
-
-
r.spl
Unknown
-
likely pathogenic
g.111958697_111958706del
g.112087973_112087982del
delTGTATGTTCT affects exon 2 & IVS2. Aberrant splicing?
-
SDHD_000074
-
-
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
noradrenaline producerend abdominaal PGL (31 jr)
-
-
Netherlands
-
-
-
-
-
1
Janneke Weiss
+?/+?
2_2i
c.169_169+9del
p.?
-
-
-
-
r.spl
Paternal (confirmed)
-
likely pathogenic
g.111958697_111958706del
g.112087973_112087982del
169_169+9 del TGTATGTTCT
-
SDHD_000074
-
Journal: Heesterman 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PGL1
EJHG-Pat210
Journal: Heesterman 2018
-
F
-
Netherlands
-
-
-
-
-
1
Berdine Heesterman
+?/+?
2_2i
c.169_169+9del
p.?
-
-
-
-
r.spl
Paternal (confirmed)
-
likely pathogenic
g.111958697_111958706del
g.112087973_112087982del
169_169+9 del TGTATGTTCT
-
SDHD_000074
-
Journal: Heesterman 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PGL1
EJHG-Pat211
Journal: Heesterman 2018
-
F
-
Netherlands
-
-
-
-
-
1
Berdine Heesterman
+/+?
2i
c.169+1G>A
p.?
splicing affected
-
-
-
r.spl
Unknown
-
pathogenic
g.111958698G>A
g.112087974G>A
-
-
SDHD_000132
Exclusion of exon 2 during splicing
PubMed: Srirangalingam
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PGL
-
-
15y boy
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Jean-Pierre Bayley
+/.
-
c.169+1G>A
p.?
-
-
-
-
r.spl?
Unknown
-
pathogenic
g.111958698G>A
g.112087974G>A
-
-
SDHD_000132
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
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