Global Variome shared LOVD
HADHB (hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA...)
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Global Variome, with Curator vacancy
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Full data view for gene HADHB
The variants shown are described using the NM_000183.2 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.
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
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
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
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Operator
Column type
Example
Matches
Text
Arg
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space
Text
Arg Ser
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|
Text
Arg|Ser
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!
Text
!fs
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^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
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=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
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!=""
Text
!="p.0"
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combination
Text
*|Ter !fs
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Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
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<
Date
<2020
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<=
Date
<=2020-06
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>
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
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|
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
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>
Numeric
>23
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>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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168 entries on 2 pages. Showing entries 1 - 100.
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Effect
Exon
DNA change (cDNA)
RNA change
Protein
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
-?/.
-
c.-57565G>A
r.(?)
p.(=)
Unknown
-
likely benign
g.26410302G>A
g.26187433G>A
GAREML(NM_001168241.1):c.1801G>A (p.(Ala601Thr))
-
HADHA_000007
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.-56869C>T
r.(?)
p.(=)
Unknown
-
VUS
g.26410998C>T
g.26188129C>T
GAREML(NM_001168241.1):c.2497C>T (p.(Arg833Ter))
-
HADHA_000009
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.-53632C>T
r.(?)
p.(=)
Unknown
-
VUS
g.26414235C>T
g.26191366C>T
HADHA(NM_000182.5):c.2176G>A (p.A726T)
-
HADHA_000010
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.-53531A>G
r.(?)
p.(=)
Unknown
-
benign
g.26414336A>G
-
HADHA(NM_000182.5):c.2146+16T>C
-
HADHA_000033
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.-53489C>A
r.(?)
p.(=)
Unknown
-
VUS
g.26414378C>A
g.26191509C>A
HADHA(NM_000182.4):c.2120G>T (p.(Gly707Val))
-
HADHA_000011
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-53481G>A
r.(?)
p.(=)
Unknown
-
likely benign
g.26414386G>A
g.26191517G>A
HADHA(NM_000182.5):c.2112C>T (p.A704=)
-
HADHA_000012
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.-53402A>G
r.(?)
p.(=)
Unknown
-
VUS
g.26414465A>G
-
HADHA(NM_000182.5):c.2033T>C (p.(Val678Ala))
-
HADHA_000036
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-52669G>A
r.(?)
p.(=)
Unknown
-
likely benign
g.26415198G>A
g.26192329G>A
HADHA(NM_000182.4):c.1981C>T (p.L661=)
-
HADHA_000013
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-52649C>T
r.(?)
p.(=)
Unknown
-
likely benign
g.26415218C>T
g.26192349C>T
HADHA(NM_000182.4):c.1961G>A (p.(Ser654Asn))
-
HADHA_000014
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-52600T>C
r.(?)
p.(=)
Unknown
-
likely benign
g.26415267T>C
g.26192398T>C
-
-
HADHA_000017
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-51220C>T
r.(?)
p.(=)
Unknown
-
likely benign
g.26416647C>T
-
HADHA(NM_000182.5):c.1690-6G>A
-
HADHA_000034
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.-50417G>A
r.(?)
p.(=)
Unknown
-
pathogenic
g.26417450G>A
-
-
-
HADHA_000032
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.-49917C>G
r.(?)
p.(=)
Unknown
-
benign
g.26417950C>G
-
HADHA(NM_000182.5):c.1620+11G>C
-
HADHA_000035
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-49915G>C
r.(?)
p.(=)
Unknown
-
likely benign
g.26417952G>C
g.26195083G>C
HADHA(NM_000182.4):c.1620+9C>G
-
HADHA_000018
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-43857T>G
r.(?)
p.(=)
Unknown
-
likely benign
g.26424010T>G
g.26201141T>G
-
-
HADHA_000019
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.-43800A>G
r.(?)
p.(=)
Unknown
-
VUS
g.26424067A>G
-
HADHA(NM_000182.5):c.1343T>C (p.V448A)
-
HADHA_000025
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.-43782T>A
r.(?)
p.(=)
Unknown
-
VUS
g.26424085T>A
-
HADHA(NM_000182.4):c.1325A>T (p.D442V), HADHA(NM_000182.5):c.1325A>T (p.(Asp442Val), p.D442V)
-
HADHA_000029
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.-43782T>A
r.(?)
p.(=)
Unknown
-
VUS
g.26424085T>A
-
HADHA(NM_000182.4):c.1325A>T (p.D442V), HADHA(NM_000182.5):c.1325A>T (p.(Asp442Val), p.D442V)
-
HADHA_000029
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.-43782T>A
r.(?)
p.(=)
Unknown
-
VUS
g.26424085T>A
-
HADHA(NM_000182.4):c.1325A>T (p.D442V), HADHA(NM_000182.5):c.1325A>T (p.(Asp442Val), p.D442V)
-
HADHA_000029
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-40928C>G
r.(?)
p.(=)
Unknown
-
likely benign
g.26426939C>G
g.26204070C>G
HADHA(NM_000182.4):c.1212G>C (p.V404=)
-
HADHA_000020
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-40928C>G
r.(?)
p.(=)
Unknown
-
likely benign
g.26426939C>G
-
HADHA(NM_000182.4):c.1212G>C (p.V404=)
-
HADHA_000020
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-40890C>T
r.(?)
p.(=)
Unknown
-
likely benign
g.26426977C>T
g.26204108C>T
HADHA(NM_000182.4):c.1174G>A (p.(Ala392Thr))
-
HADHA_000015
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.-40845C>T
r.(?)
p.(=)
Unknown
-
VUS
g.26427022C>T
g.26204153C>T
HADHA(NM_000182.4):c.1129G>A (p.A377T)
-
HADHA_000021
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.-29823C>T
r.(?)
p.(=)
Unknown
-
VUS
g.26438044C>T
-
HADHA(NM_000182.5):c.677G>A (p.G226E)
-
HADHA_000026
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.-14783C>G
r.(?)
p.(=)
Unknown
-
VUS
g.26453084C>G
g.26230216C>G
-
-
HADHA_000022
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_1i
c.-11119_-9+3865del
r.0?
p.0?
Parent #2
-
pathogenic (recessive)
g.26456748_26471723del
g.26233880_26248855del
hg38
-
HADHA_000063
-
PubMed: Bo 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MTPD
Pat3
PubMed: Bo 2017
-
M
-
Japan
-
13d
-
-
-
1
Johan den Dunnen
?/.
-
c.-10645T>C
r.(?)
p.(=)
Unknown
-
VUS
g.26457222T>C
g.26234354T>C
HADHA(NM_000182.5):c.316A>G (p.(Met106Val), p.M106V)
-
HADHA_000016
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.-10645T>C
r.(?)
p.(=)
Unknown
-
VUS
g.26457222T>C
-
HADHA(NM_000182.5):c.316A>G (p.(Met106Val), p.M106V)
-
HADHA_000016
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-5901T>G
r.(?)
p.(=)
Unknown
-
likely benign
g.26461966T>G
-
HADHA(NM_000182.5):c.109+4A>C
-
HADHA_000037
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-5846A>C
r.(?)
p.(=)
Unknown
-
likely benign
g.26462021A>C
-
HADHA(NM_000182.5):c.68-10T>G
-
HADHA_000031
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-402C>A
r.(?)
p.(=)
Unknown
-
likely benign
g.26467465C>A
g.26244597C>A
HADHA(NM_000182.5):c.-1G>T
-
HADHA_000003
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.-8-2780_109+2924del
r.-8_109del
p.0?
Parent #1
-
pathogenic (recessive)
g.26474335_26480266del
g.26251467_26257398del
-
-
HADHB_000051
-
PubMed: Boutron 2011
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MTPD
Pat46
PubMed: Boutron 2011
-
-
-
France
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.?
r.?
p.?
Parent #2
-
pathogenic (recessive)
g.?
-
1202T>C
-
SNRNP200_000007
-
PubMed: Sander 2005
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
Pat8
PubMed: Sander 2005
-
-
-
Germany
-
-
-
-
-
1
Johan den Dunnen
-/.
-
c.5_7dup
r.(?)
p.(Thr2dup)
Unknown
-
benign
g.26477127_26477129dup
g.26254259_26254261dup
HADHB(NM_000183.3):c.5_7dupCTA (p.T2dup), HADHB(NM_000183.3):c.8delTinsCTAT (p.T2dup)
-
HADHB_000004
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.5_7dup
r.5_7dup
p.Thr2dup
Both (homozygous)
-
benign
g.26477127_26477129dup
g.26254259_26254261dup
6insACT
-
HADHB_000004
-
PubMed: Ushikubo 1996
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
MTPD
?;Pat1
PubMed: Kamijo 1994
,
PubMed: Ushikubo 1996
-
-
-
Japan
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.64+11T>C
r.(=)
p.(=)
Unknown
-
likely benign
g.26477197T>C
-
HADHB(NM_000183.3):c.64+11T>C
-
HADHB_000076
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.88_91del
r.(?)
p.(Gln31TyrfsTer15)
Both (homozygous)
-
pathogenic (recessive)
g.26477321_26477324del
g.26254453_26254456del
88_91delTCCC
-
HADHB_000052
-
PubMed: Sperk 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
Pat5
PubMed: Sperk 2010
-
M
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.109+4C>T
r.spl
p.?
Parent #1
-
pathogenic (recessive)
g.26477346C>T
g.26254478C>T
IVS3+4A>T
-
HADHB_000053
variant description in paper not correct!; no variant 2nd chromosome
PubMed: Sperk 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
Pat6
PubMed: Sperk 2010
-
F
-
Germany
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.110-2351G>T
r.(=)
p.(=)
Unknown
-
likely benign
g.26483897G>T
g.26261029G>T
HADHB(NM_001281513.1):c.9G>T (p.L3=)
-
HADHB_000005
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.170_172del
r.(?)
p.(Val57del)
Both (homozygous)
-
pathogenic (recessive)
g.26486308_26486310del
g.26263440_26263442del
169_171del
-
HADHB_000054
-
PubMed: Boutron 2011
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MTPD
Pat47
PubMed: Boutron 2011
-
-
-
France
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.176G>A
r.(?)
p.(Gly59Asp)
Parent #1
-
pathogenic (recessive)
g.26486314G>A
g.26263446G>A
(G26D)
-
HADHB_000055
-
PubMed: Spiekerkoetter 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MTPD
Pat13;Pat6
PubMed: Spiekerkoetter 2003
,
PubMed: Spiekerkoetter 2004
patient
M
-
United States
white
-
-
-
-
1
Johan den Dunnen
+/.
-
c.178G>T
r.(?)
p.(Val60Phe)
Both (homozygous)
-
pathogenic (recessive)
g.26486316G>T
g.26263448G>T
181G>T
-
HADHB_000075
-
PubMed: Sander 2005
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
Pat11
PubMed: Sander 2005
family, affected and 3 affected sibs (1d-deceased)
-
-
Turkey
-
-
-
-
-
4
Johan den Dunnen
+?/.
-
c.181C>T
r.(?)
p.(Arg61Cys)
Unknown
-
likely pathogenic
g.26486319C>T
g.26263451C>T
HADHB(NM_001281513.1):c.115C>T (p.R39C)
-
HADHB_000006
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.181C>T
r.(?)
p.(Arg61Cys)
Both (homozygous)
-
pathogenic (recessive)
g.26486319C>T
g.26263451C>T
(R28C)
-
HADHB_000006
-
PubMed: Spiekerkoetter 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MTPD
Pat1
PubMed: Spiekerkoetter 2003
patient
F
-
Turkey
-
8d
-
-
-
1
Johan den Dunnen
+/.
-
c.181C>T
r.(?)
p.(Arg61Cys)
Parent #1
-
pathogenic (recessive)
g.26486319C>T
g.26263451C>T
(R28C)
-
HADHB_000006
-
PubMed: Spiekerkoetter 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MTPD
FamPat8;Pat2
PubMed: Spiekerkoetter 2003
,
PubMed: Spiekerkoetter 2004
family, 2 affected brothers
M
-
United States
Hispanic
-
-
-
-
2
Johan den Dunnen
+/.
-
c.181C>T
r.(?)
p.(Arg61Cys)
Parent #1
-
pathogenic (recessive)
g.26486319C>T
g.26263451C>T
(R28C)
-
HADHB_000006
-
PubMed: Spiekerkoetter 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MTPD
FamPat9
PubMed: Spiekerkoetter 2003
brother
M
-
United States
Hispanic
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.182G>A
r.(?)
p.(Arg61His)
Parent #1
-
likely pathogenic
g.26486320G>A
g.26263452G>A
-
-
HADHB_000018
1 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs121913132
Germline
-
1/2794 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
1
Mohammed Faruq
+/.
-
c.182G>A
r.182g>a
p.Arg61His
Parent #1
-
pathogenic (recessive)
g.26486320G>A
g.26263452G>A
-
-
HADHB_000018
-
PubMed: Ushikubo 1996
,
PubMed: Spiekerkoetter 2003
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
MTPD
Pat3;Pat7;Pat1
PubMed: Ushikubo 1996
,
PubMed: Spiekerkoetter 2003
,
PubMed: Spiekerkoetter 2004
-
F
-
United States
white
-
-
-
-
1
Johan den Dunnen
+/.
-
c.182G>A
r.(?)
p.(Arg61His)
Parent #1
-
pathogenic (recessive)
g.26486320G>A
g.26263452G>A
(R28H)
-
HADHB_000018
no variant 2nd chromosome
PubMed: Spiekerkoetter 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MTPD
Pat3
PubMed: Spiekerkoetter 2003
patient
F
-
United States
white
9d
-
-
-
1
Johan den Dunnen
+/.
-
c.182G>A
r.(?)
p.(Arg61His)
Parent #1
-
pathogenic (recessive)
g.26486320G>A
g.26263452G>A
185G>A
-
HADHB_000018
-
PubMed: Veenvliet 2022
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MTPD
patient
PubMed: Veenvliet 2022
-
F
-
Netherlands
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.182G>A
r.(?)
p.(Arg61His)
Unknown
-
pathogenic (recessive)
g.26486320G>A
g.26263452G>A
185G>A
-
HADHB_000018
-
PubMed: Das 2006
-
-
De novo
-
-
-
-
-
DNA
SEQ
-
-
MTPD
patient
PubMed: Das 2006
2-generation family, 1 affected, unaffected heterozygous carrier father/non-carrier mother
M
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.182G>A
r.(?)
p.(Arg61His)
Parent #1
-
pathogenic (recessive)
g.26486320G>A
g.26263452G>A
185G>A
-
HADHB_000018
-
PubMed: Sander 2005
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
Pat8
PubMed: Sander 2005
-
-
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.182G>A
r.(?)
p.(Arg61His)
Both (homozygous)
-
pathogenic (recessive)
g.26486320G>A
g.26263452G>A
185G>A
-
HADHB_000018
-
PubMed: Sander 2005
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
Pat10
PubMed: Sander 2005
-
-
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.184A>G
r.(?)
p.(Thr62Ala)
Parent #1
-
pathogenic (recessive)
g.26486322A>G
g.26263454A>G
-
-
HADHB_000044
-
PubMed: Lu 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
CMT
Pat1
PubMed: Lu 2018
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.209C>G
r.(?)
p.(Ser70*)
Paternal (confirmed)
-
pathogenic (recessive)
g.26486347C>G
g.26263479C>G
-
-
HADHB_000039
-
PubMed: Li 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
MTPD
patient
PubMed: Li 2021
2-generation family, 1 affected, unaffected heterozygous carrier parents
F
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.209+1G>C
r.110_209del
p.Ala37AspfsTer5
Both (homozygous)
-
pathogenic (recessive)
g.26486348G>C
g.26263480G>C
-
-
HADHB_000007
-
PubMed: Boutron 2011
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
MTPD
Pat48
PubMed: Boutron 2011
-
-
-
France
-
-
-
-
-
1
Johan den Dunnen
+/.
4i
c.209+1G>C
r.spl
p.?
Both (homozygous)
-
pathogenic (recessive)
g.26486348G>C
g.26263480G>C
212+1G>C
-
HADHB_000007
-
PubMed: Diekman 2013
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MTPD
Pat1
PubMed: Diekman 2013
-
F
yes
Netherlands
white
10d
-
-
-
1
Johan den Dunnen
+/.
4i
c.209+1G>C
r.spl
p.?
Parent #1
-
pathogenic (recessive)
g.26486348G>C
g.26263480G>C
-
-
HADHB_000007
-
PubMed: van Vliet 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MTPD
patient
PubMed: van Vliet 2018
-
F
-
Netherlands
-
-
-
-
-
1
Johan den Dunnen
+/.
4i
c.210-1G>C
r.210_254del
p.Tyr71_Thr85del
Maternal (confirmed)
-
pathogenic (recessive)
g.26492820G>C
g.26269952G>C
-
-
HADHB_000038
-
PubMed: Hong 2013
-
-
Germline
yes
-
-
-
-
DNA, RNA
RT-PCR, SEQ, SEQ-NG
-
WES
CMT
FamPatII1
PubMed: Hong 2013
2-generation family, affected sister/brother, unaffected heterozygous carrier parents
F
-
Korea
-
-
-
-
-
2
Johan den Dunnen
+/.
4i
c.210-1G>C
r.210_254del
p.Tyr71_Thr85del
Maternal (confirmed)
-
pathogenic (recessive)
g.26492820G>C
g.26269952G>C
-
-
HADHB_000038
-
PubMed: Hong 2013
-
-
Germline
yes
-
-
-
-
DNA, RNA
RT-PCR, SEQ, SEQ-NG
-
WES
CMT
FamPatII2
PubMed: Hong 2013
proband
M
-
Korea
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.254+1G>A
r.spl?
p.?
Unknown
-
likely pathogenic
g.26492866G>A
-
HADHB(NM_001281513.1):c.188+1G>A
-
HADHB_000019
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.340A>G
r.(?)
p.(Asn114Asp)
Parent #1
-
pathogenic (recessive)
g.26496604A>G
g.26273736A>G
-
-
HADHB_000045
-
PubMed: Kang 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
dried blood spot sample
?
Pat1
PubMed: Kang 2018
-
-
-
Korea
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.340A>G
r.(?)
p.(Asn114Asp)
Parent #1
-
pathogenic (recessive)
g.26496604A>G
g.26273736A>G
-
-
HADHB_000045
-
PubMed: Kang 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
dried blood spot sample
?
Pat2
PubMed: Kang 2018
-
-
-
Korea
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.340A>G
r.(?)
p.(Asn114Asp)
Parent #1
-
pathogenic (recessive)
g.26496604A>G
g.26273736A>G
-
-
HADHB_000045
-
PubMed: Kang 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
dried blood spot sample
?
Pat3
PubMed: Kang 2018
-
-
-
Korea
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.340A>G
r.(?)
p.(Asn114Asp)
Parent #1
-
pathogenic (recessive)
g.26496604A>G
g.26273736A>G
-
-
HADHB_000045
-
PubMed: Choi 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MTPD
Pat4
PubMed: Choi 2007
-
M
-
Korea
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.340A>G
r.(?)
p.(Asn114Asp)
Parent #2
-
pathogenic (recessive)
g.26496604A>G
g.26273736A>G
-
-
HADHB_000045
-
PubMed: Lu 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
CMT
Pat1
PubMed: Lu 2018
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.349A>G
r.(?)
p.(Arg117Gly)
Parent #2
-
pathogenic (recessive)
g.26496613A>G
g.26273745A>G
394A>G (R84G)
-
HADHB_000056
-
PubMed: Spiekerkoetter 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MTPD
FamPat8;Pat2
PubMed: Spiekerkoetter 2003
,
PubMed: Spiekerkoetter 2004
family, 2 affected brothers
M
-
United States
Hispanic
-
-
-
-
2
Johan den Dunnen
+/.
-
c.349A>G
r.(?)
p.(Arg117Gly)
Parent #2
-
pathogenic (recessive)
g.26496613A>G
g.26273745A>G
395A>G (R84G)
-
HADHB_000056
-
PubMed: Spiekerkoetter 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MTPD
FamPat9
PubMed: Spiekerkoetter 2003
brother
M
-
United States
Hispanic
-
-
-
-
1
Johan den Dunnen
+/.
6i
c.354+5del
r.254_354del
p.Gly86fs
Both (homozygous)
-
pathogenic (recessive)
g.26496623del
g.26273755del
357+5delG
-
HADHB_000057
-
PubMed: Diekman 2013
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
MTPD
Pat2
PubMed: Diekman 2013
-
M
yes
Netherlands
-
31d
-
-
-
1
Johan den Dunnen
+/.
-
c.357dup
r.(?)
p.(Ala120Cysfs*8)
Paternal (confirmed)
-
pathogenic (recessive)
g.26499943dup
g.26277075dup
358dupT
-
HADHB_000036
-
PubMed: Park 2009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MTPD
patient
PubMed: Park 2009
2-generation family, 1 affected, unaffected heterozygous carrier parents
M
no
Korea
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.362T>C
r.(?)
p.(Leu121Pro)
Parent #1
-
pathogenic (recessive)
g.26499948T>C
g.26277080T>C
(L88P)
-
HADHB_000058
no variant 2nd chromosome
PubMed: Spiekerkoetter 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MTPD
Pat12;Pat5
PubMed: Spiekerkoetter 2003
,
PubMed: Spiekerkoetter 2004
patient
M
-
United States
white
-
-
-
-
1
Johan den Dunnen
+/.
-
c.397A>C
r.(?)
p.(Thr133Pro)
Parent #1
-
pathogenic (recessive)
g.26499983A>C
g.26277115A>C
(T100P)
-
HADHB_000059
-
PubMed: Spiekerkoetter 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MTPD
Pat15;Pat8
PubMed: Spiekerkoetter 2003
,
PubMed: Spiekerkoetter 2004
patient
M
-
United States
white
-
-
-
-
1
Johan den Dunnen
+/.
-
c.407T>C
r.(?)
p.(Met136Thr)
Maternal (confirmed)
-
pathogenic (recessive)
g.26499993T>C
g.26277125T>C
-
-
HADHB_000050
-
PubMed: Liu 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
MTPD
patient
PubMed: Liu 2019
2-generation family, 1 affected, unaffected heterozygous carrier parents
F
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.421G>A
r.(?)
p.(Ala141Thr)
Paternal (confirmed)
-
pathogenic (recessive)
g.26500007G>A
g.26277139G>A
-
-
HADHB_000049
-
PubMed: Liu 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
MTPD
patient
PubMed: Liu 2019
2-generation family, 1 affected, unaffected heterozygous carrier parents
F
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
7i
c.442+614A>G
r.[442_443ins442+508_442+613, 442_443ins442+558_442+613]
p.Gly148fs
Paternal (confirmed)
-
pathogenic (recessive)
g.26500642A>G
g.26277774A>G
-
-
HADHB_000031
g.33627A>G or IVS7+614A>G
PubMed: Purevsuren 2008
,
PubMed: Purevsuren 2009
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
MTPD
patient;Pat1;Pat4
PubMed: Purevsuren 2008
,
PubMed: Purevsuren 2009
,
PubMed: Bo 2017
-
F
-
Japan
-
00y00m08d
-
-
-
1
Johan den Dunnen
+/.
-
c.488G>A
r.(?)
p.(Gly163Asp)
Parent #1
-
pathogenic (recessive)
g.26501527G>A
g.26278659G>A
-
-
HADHB_000046
-
PubMed: Lu 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
CMT
Pat2
PubMed: Lu 2018
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.520C>T
r.(?)
p.(Arg174Cys)
Parent #1
-
pathogenic (recessive)
g.26501559C>T
g.26278691C>T
R141C
-
HADHB_000041
-
PubMed: Yagi 2011
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MTPD
patient;Pat12
PubMed: Yagi 2011
,
PubMed: Bo 2017
-
F
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.527C>G
r.(?)
p.(Ser176Ter)
Parent #1
-
pathogenic (recessive)
g.26501566C>G
g.26278698C>G
(S143X)
-
HADHB_000060
no variant 2nd chromosome
PubMed: Spiekerkoetter 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MTPD
Pat4
PubMed: Spiekerkoetter 2003
patient
M
-
United States
white
14d
-
-
-
1
Johan den Dunnen
+/.
-
c.580C>T
r.(?)
p.(Gln194Ter)
Parent #1
-
pathogenic (recessive)
g.26501619C>T
g.26278751C>T
-
-
HADHB_000061
-
PubMed: Grunert 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
Pat11
PubMed: Grunert 2021
patient
M
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.580C>T
r.(?)
p.(Gln194Ter)
Parent #1
-
pathogenic (recessive)
g.26501619C>T
g.26278751C>T
-
-
HADHB_000061
no variant 2nd chromosome
PubMed: Diebold 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
?
Pat12
PubMed: Diebold 2019
phenotype-based NGS screening 403 individuals
-
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.607C>T
r.(?)
p.(Arg203Ter)
Parent #1
-
pathogenic (recessive)
g.26501646C>T
g.26278778C>T
(R170X)
-
HADHB_000062
-
PubMed: Spiekerkoetter 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MTPD
FamPat10;Pat3
PubMed: Spiekerkoetter 2003
,
PubMed: Spiekerkoetter 2004
family, 2 affected brothers
M
-
Israel
-
-
-
-
-
2
Johan den Dunnen
+/.
-
c.607C>T
r.(?)
p.(Arg203Ter)
Parent #1
-
pathogenic (recessive)
g.26501646C>T
g.26278778C>T
(R170X)
-
HADHB_000062
-
PubMed: Spiekerkoetter 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MTPD
FamPat11;Pat4
PubMed: Spiekerkoetter 2003
,
PubMed: Spiekerkoetter 2004
brother
M
-
Israel
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.631-1G>A
r.spl?
p.?
Both (homozygous)
ACMG
likely pathogenic
g.26502002G>A
g.26279134G>A
-
-
HADHB_000002
-
PubMed: Trujillano 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
MTPD
-
PubMed: Trujillano 2017
unaffected parents
-
-
-
-
-
-
-
-
1
Daniel Trujillano
+/.
-
c.631-1G>A
r.spl
p.?
Parent #1
-
pathogenic (recessive)
g.26502002G>A
g.26279134G>A
-
-
HADHB_000002
no variant 2nd chromosome
PubMed: Diebold 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
?
Pat11
PubMed: Diebold 2019
phenotype-based NGS screening 403 individuals
-
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.685C>T
r.(?)
p.(Arg229*)
Unknown
-
likely pathogenic
g.26502057C>T
-
HADHB(NM_000183.2):c.685C>T (p.R229*)
-
HADHB_000020
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.685C>T
r.(?)
p.(Arg229*)
Unknown
-
pathogenic
g.26502057C>T
-
HADHB(NM_000183.2):c.685C>T (p.R229*)
-
HADHB_000020
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.685C>T
r.(?)
p.(Arg229Ter)
Parent #1
-
pathogenic (recessive)
g.26502057C>T
g.26279189C>T
(R196X)
-
HADHB_000020
no variant 2nd chromosome
PubMed: Spiekerkoetter 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MTPD
Pat2
PubMed: Spiekerkoetter 2003
patient
M
-
United States
white
12d
-
-
-
1
Johan den Dunnen
+/.
-
c.686G>T
r.(?)
p.(Arg229Leu)
Paternal (confirmed)
-
pathogenic (recessive)
g.26502058G>T
g.26279190G>T
-
-
HADHB_000037
-
PubMed: Hong 2013
-
-
Germline
yes
-
-
-
-
DNA, RNA
RT-PCR, SEQ, SEQ-NG
-
WES
CMT
FamPatII1
PubMed: Hong 2013
2-generation family, affected sister/brother, unaffected heterozygous carrier parents
F
-
Korea
-
-
-
-
-
2
Johan den Dunnen
+/.
-
c.686G>T
r.(?)
p.(Arg229Leu)
Paternal (confirmed)
-
pathogenic (recessive)
g.26502058G>T
g.26279190G>T
-
-
HADHB_000037
-
PubMed: Hong 2013
-
-
Germline
yes
-
-
-
-
DNA, RNA
RT-PCR, SEQ, SEQ-NG
-
WES
CMT
FamPatII2
PubMed: Hong 2013
proband
M
-
Korea
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.693del
r.(?)
p.(Ala232LeufsTer20)
Parent #1
-
pathogenic (recessive)
g.26502065del
g.26279197del
(198FS)
-
HADHB_000063
-
PubMed: Spiekerkoetter 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MTPD
Pat5
PubMed: Spiekerkoetter 2003
patient
M
-
United States
white
-
-
-
-
1
Johan den Dunnen
+/.
-
c.693del
r.(?)
p.(Ala232LeufsTer20)
Parent #1
-
pathogenic (recessive)
g.26502065del
g.26279197del
693delC
-
HADHB_000063
-
PubMed: Vieira Neto 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MTPD
FB861
PubMed: Vieira Neto 2024
-
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.712C>T
r.(?)
p.(Arg238Trp)
Both (homozygous)
-
VUS
g.26502084C>T
g.26279216C>T
-
-
HADHB_000064
-
PubMed: Diebold 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
?
Pat3
PubMed: Diebold 2019
phenotype-based NGS screening 403 individuals
-
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.725A>G
r.(?)
p.(Asp242Gly)
Parent #1
-
pathogenic (recessive)
g.26502097A>G
g.26279229A>G
(D209G)
-
HADHB_000065
-
PubMed: Spiekerkoetter 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MTPD
Pat6
PubMed: Spiekerkoetter 2003
patient
M
-
United States
white
-
-
-
-
1
Johan den Dunnen
+/.
9
c.739C>T
r.(?)
p.(Arg247Cys)
Both (homozygous)
-
pathogenic
g.26502111C>T
g.26279243C>T
g.34496C>T
-
HADHB_000001
-
-
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
blood
-
MTPD
-
-
-
F
no
China
-
08y05m
-
-
L-carnitine,adjusting the diet
1
Xiaona Fu
+/.
-
c.739C>T
r.739c>u
p.Arg247Cys
Paternal (confirmed)
-
pathogenic (recessive)
g.26502111C>T
g.26279243C>T
R214C
-
HADHB_000001
-
PubMed: Purevsuren 2009
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
MTPD
Pat3;Pat8
PubMed: Purevsuren 2009
,
PubMed: Bo 2017
-
F
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.739C>T
-
p.Arg247Cys
Unknown
-
NA
g.26502111C>T
g.26279243C>T
(R214C)
-
HADHB_000001
cDNA expression cloning 0.05 enzyme activity
PubMed: Purevsuren 2009
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.739C>T
r.(?)
p.(Arg247Cys)
Parent #2
-
pathogenic (recessive)
g.26502111C>T
g.26279243C>T
-
-
HADHB_000001
-
PubMed: Kang 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
dried blood spot sample
?
Pat1
PubMed: Kang 2018
-
-
-
Korea
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.739C>T
r.(?)
p.(Arg247Cys)
Both (homozygous)
-
pathogenic (recessive)
g.26502111C>T
g.26279243C>T
-
-
HADHB_000001
-
PubMed: Fu 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MTPD
patient
PubMed: Fu 2015
2-generation family, 1 affected, unaffected heterozygous carrier parents
F
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.739C>T
r.(?)
p.(Arg247Cys)
Unknown
-
pathogenic
g.26502111C>T
-
HADHB(NM_000183.3):c.739C>T (p.(Arg247Cys))
-
HADHB_000001
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.740G>A
r.740g>a
p.Arg247His
Parent #2
-
pathogenic (recessive)
g.26502112G>A
g.26279244G>A
-
-
HADHB_000027
-
PubMed: Ushikubo 1996
,
PubMed: Spiekerkoetter 2003
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
MTPD
Pat3;Pat7;Pat1
PubMed: Ushikubo 1996
,
PubMed: Spiekerkoetter 2003
,
PubMed: Spiekerkoetter 2004
-
F
-
United States
white
-
-
-
-
1
Johan den Dunnen
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