Global Variome shared LOVD
CBS (cystathionine-beta-synthase)
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The variants shown are described using the NM_000071.2 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.
Haplotype
: haplotype on which variant was found
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)
association
unclassified
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
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 = singele 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-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
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
>=
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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Effect
Exon
DNA change (cDNA)
Haplotype
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
+/.
12
c.[1105C>T;1471C>T]
-
-
p.[Arg369Cys;Arg491Cys]
Unknown
-
NA
g.[44476994G>A;44480591G>A]
g.[43056884G>A;43060481G>A]
-
-
CBS_000064
expression cloning in E.coli, CBs activity 0.10
Kluijtmans 1998, PhD thesis
-
-
In vitro (cloned)
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
_1
c.(-3469_-3466del)
CTTT[5]
r.(=)
p.(=)
Unknown
-
benign
g.44499284_44499287del
g.43079174_43079177del
-3469_-3466del -6921TTTC
-
CBS_000056
-
PubMed: Kraus 1998
-
-
Germline
-
20/30 chromosomes
-
0
-
DNA
PCR, SEQ
-
-
Healthy/Control
controls
PubMed: Kraus 1998
screened 15 controls
-
-
-
Europe
-
0
-
-
1
Johan den Dunnen
+/.
5
c.[172C>T;341C>T]
-
-
p.[Arg58Trp;Ala114Val]
Unknown
-
NA
g.[44486463G>A;44492132G>A]
g.[43066353G>A;43072022G>A]
-
-
CBS_000057
expression cloning in E.coli, CBs activity 0.013
PubMed: de Franchis 1999
-
-
In vitro (cloned)
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
4
c.[233C>G;306G>C]
-
-
p.[Pro78Arg;Lys12Asn]
Unknown
-
NA
g.[44488629C>G;44488702G>C]
g.[43068519C>G;43068592G>C]
-
-
CBS_000058
expression cloning in E.coli, CBs activity 0
PubMed: de Franchis 1994
-
-
In vitro (cloned)
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
5
c.[374G>A;393G>C]
-
-
p.[Arg125Gln;Glu131Asp]
Unknown
-
NA
g.[44486411C>G;44486430C>T]
g.[43066301C>G;43066320C>T]
-
-
CBS_000059
expression cloning in E.coli, CBs activity 0.015
PubMed: Marble 1994
-
-
In vitro (cloned)
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
5
c.[430G>A;1316G>A]
-
-
p.[Glu144Lys;Arg439Gln]
Unknown
-
NA
g.[44478986C>T;44486374C>T]
g.[43058876C>T;43066264C>T]
-
-
CBS_000060
expression cloning in E.coli, CBs activity <0.01
PubMed: Dawson 1997
-
-
In vitro (cloned)
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
3
c.19dup
-
r.(?)
p.(Gln7Profs*30)
Both (homozygous)
-
pathogenic
g.44492290dup
g.43072180dup
19insC
-
CBS_000218
-
PubMed: Kozich 1997
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
419
PubMed: Kozich 1997
-
-
-
Slovakia (Slovak Republic)
-
-
0
-
not pyridoxine responsive
1
Johan den Dunnen
+/.
3
c.19dup
-
r.(?)
p.(Gln7Profs*30)
Parent #1
-
pathogenic
g.44492290dup
g.43072180dup
19insC
-
CBS_000218
-
PubMed: Kozich 1997
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
Pat
PubMed: Kozich 1997
-
-
-
Slovakia (Slovak Republic)
-
-
0
-
not pyridoxine responsive
1
Johan den Dunnen
+/.
3
c.19dup
-
r.(?)
p.(Gln7Profs*30)
Both (homozygous)
-
pathogenic
g.44492290dup
g.43072180dup
19insC
-
CBS_000218
CBS activity 0.46 nM/mg/h
PubMed: Janosik 2001
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
Pat3
PubMed: Janosik 2001
-
F
-
Slovakia (Slovak Republic)
-
-
0
-
not pyridoxine responsive
1
Johan den Dunnen
+/.
3
c.19dup
-
r.(?)
p.(Gln7Profs*30)
Parent #2
-
pathogenic
g.44492290dup
g.43072180dup
19insC
-
CBS_000218
CBS activity 0.33 nM/mg/h
PubMed: Janosik 2001
,
PubMed: Linnebank 2004
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
Pat9
PubMed: Janosik 2001
,
PubMed: Linnebank 2004
-
F
-
Slovakia (Slovak Republic)
-
-
0
-
partially pyridoxine responsive
1
Johan den Dunnen
+/.
3
c.19dup
-
r.(?)
p.(Gln7Profs*30)
Unknown
-
pathogenic
g.44492290dup
g.43072180dup
19insC
-
CBS_000218
-
PubMed: Gaustadnes 2002
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
-
PubMed: Gaustadnes 2002
-
-
-
Lebanon
-
-
0
-
not pyridoxine responsive
1
Johan den Dunnen
+/.
3
c.19dup
-
r.(?)
p.(Gln7Profs*30)
Unknown
-
pathogenic
g.44492290dup
g.43072180dup
19insC
-
CBS_000218
-
PubMed: Gaustadnes 2002
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
-
PubMed: Gaustadnes 2002
-
-
-
Lebanon
-
-
0
-
not pyridoxine responsive
1
Johan den Dunnen
+/.
3
c.19dup
-
r.(?)
p.(Gln7Profs*30)
Unknown
-
pathogenic
g.44492290dup
g.43072180dup
-
-
CBS_000218
-
PubMed: Sokolova 2001
-
-
Germline
-
3/9770000 chromosomes
-
0
-
DNA
SEQ
-
-
Healthy/Control
-
PubMed: Sokolova 2001
biochemical screen 4885000 individuals
-
-
Czech Republic;Slovenia
-
-
0
-
-
3
Johan den Dunnen
+/.
3
c.28del
-
r.(?)
p.(Val10Trpfs*72)
Parent #2
-
pathogenic
g.44492276del
g.43072166del
28delG
-
CBS_000217
-
PubMed: Janosik 2001
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
Pat8 (sib10)
PubMed: Janosik 2001
-
M
-
Czech Republic
-
-
0
-
not pyridoxine responsive
1
Johan den Dunnen
+/.
3
c.28del
-
r.(?)
p.(Val10Trpfs*72)
Parent #2
-
pathogenic
g.44492276del
g.43072166del
28delG
-
CBS_000217
CBS activity 0.03 nM/mg/h
PubMed: Janosik 2001
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
Pat10 (sib8)
PubMed: Janosik 2001
-
M
-
Czech Republic
-
-
0
-
not pyridoxine responsive
1
Johan den Dunnen
+/.
3
c.28del
-
r.(?)
p.(Val10Trpfs*72)
Unknown
-
pathogenic
g.44492276del
g.43072166del
28delG
-
CBS_000217
-
PubMed: Sokolova 2001
-
-
Germline
-
1/9770000 chromosomes
-
0
-
DNA
SEQ
-
-
Healthy/Control
-
PubMed: Sokolova 2001
biochemical screen 4885000 individuals
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+?/.
-
c.28del
-
r.(?)
p.(Val10TrpfsTer72)
Unknown
-
likely pathogenic
g.44492276del
g.43072166del
CBS(NM_001178008.2):c.28delG (p.V10Wfs*72)
-
CBS_000217
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.52C>T
-
r.(?)
p.(Arg18Cys)
Unknown
-
benign
g.44492252G>A
g.43072142G>A
CBS(NM_000071.2):c.52C>T (p.(Arg18Cys), p.R18C), CBS(NM_001178008.2):c.52C>T (p.R18C)
-
CBS_000030
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.52C>T
-
r.(?)
p.(Arg18Cys)
Unknown
-
benign
g.44492252G>A
g.43072142G>A
CBS(NM_000071.2):c.52C>T (p.(Arg18Cys), p.R18C), CBS(NM_001178008.2):c.52C>T (p.R18C)
-
CBS_000030
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
?
c.52C>T
-
r.(?)
p.(Arg18Cys)
Unknown
-
benign
g.44492252G>A
g.43072142G>A
-
-
CBS_000030
-
PubMed: Lee 2005
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
Pat1
PubMed: Lee 2005
newborn screening
-
-
Korea
-
-
0
-
-
1
Johan den Dunnen
-?/.
-
c.52C>T
-
r.(?)
p.(Arg18Cys)
Unknown
-
likely benign
g.44492252G>A
-
CBS(NM_000071.2):c.52C>T (p.(Arg18Cys), p.R18C), CBS(NM_001178008.2):c.52C>T (p.R18C)
-
CBS_000030
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
3
c.103G>A
-
r.(?)
p.(Asp35Asn)
Parent #1
-
pathogenic
g.44492201C>T
g.43072091C>T
103G>A;129G>A
-
CBS_000216
-
PubMed: Katsushima 2006
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
Pat6
PubMed: Katsushima 2006
newborn screening
-
-
Japan
-
-
0
-
not pyridoxine responsive
1
Johan den Dunnen
+/.
3
c.129G>A
-
r.(?)
p.(Trp43*)
Parent #1
-
pathogenic
g.44492175C>T
g.43072065C>T
103G>A;129G>A
-
CBS_000215
-
PubMed: Katsushima 2006
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
Pat6
PubMed: Katsushima 2006
newborn screening
-
-
Japan
-
-
0
-
not pyridoxine responsive
1
Johan den Dunnen
?/.
-
c.133C>T
-
r.(?)
p.(Arg45Trp)
Unknown
-
VUS
g.44492171G>A
g.43072061G>A
CBS(NM_001178008.3):c.133C>T (p.R45W)
-
CBS_000053
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
?
c.141T>A
-
r.(?)
p.(Asp47Glu)
Both (homozygous)
-
pathogenic
g.44492163A>T
g.43072053A>T
-
-
CBS_000214
-
PubMed: Cheng 2007
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
Pat
PubMed: Cheng 2007
-
M
-
-
-
-
0
-
-
1
Johan den Dunnen
?/.
-
c.146C>T
-
r.(?)
p.(Pro49Leu)
Unknown
-
VUS
g.44492158G>A
g.43072048G>A
CBS(NM_001178008.2):c.146C>T (p.P49L)
-
CBS_000052
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
3
c.146C>T
-
r.(?)
p.(Pro49Leu)
Unknown
-
pathogenic
g.44492158G>A
g.43072048G>A
-
-
CBS_000052
-
PubMed: Gaustadnes 2002
-
-
Germline
-
-
DdeI+
0
-
DNA
SEQ
-
-
CBSD
-
PubMed: Gaustadnes 2002
-
-
-
United Kingdom (Great Britain)
Anglo-Celtic
-
0
-
pyridoxine responsive
1
Johan den Dunnen
+/.
3
c.146C>T
-
r.(?)
p.(Pro49Leu)
Parent #2
-
pathogenic
g.44492158G>A
g.43072048G>A
-
-
CBS_000052
-
PubMed: Evangelisti 2008
-
-
Germline
-
-
DdeI+
0
-
DNA, RNA
RT-PCR, SEQ
-
-
CBSD
Pat4
PubMed: Evangelisti 2008
-
-
-
Italy
-
-
0
-
not pyridoxine responsive
1
Johan den Dunnen
+/.
3
c.146C>T
-
r.(?)
p.(Pro49Leu)
Unknown
-
pathogenic
g.44492158G>A
g.43072048G>A
-
-
CBS_000052
-
PubMed: Cozar 2011
-
-
Germline
-
-
DdeI+
0
-
DNA
SEQ
-
-
CBSD
-
PubMed: Cozar 2011
-
-
-
Spain
-
-
0
-
-
1
Johan den Dunnen
+/.
3
c.146C>T
-
r.(?)
p.(Pro49Leu)
Unknown
-
pathogenic
g.44492158G>A
g.43072048G>A
-
-
CBS_000052
-
PubMed: Cozar 2011
-
-
Germline
-
-
DdeI+
0
-
DNA
SEQ
-
-
CBSD
-
PubMed: Cozar 2011
-
-
-
Spain
-
-
0
-
-
1
Johan den Dunnen
+/.
?
c.146C>T
-
r.(?)
p.(Pro49Leu)
Parent #1
-
pathogenic
g.44492158G>A
g.43072048G>A
-
-
CBS_000052
-
PubMed: de Franchis 1998
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
Pat5 (VP)
PubMed: de Franchis 1998
-
-
-
Italy
-
-
0
-
pyridoxine responsive
1
Johan den Dunnen
+/.
?
c.146C>T
-
r.(?)
p.(Pro49Leu)
Maternal (confirmed)
-
pathogenic
g.44492158G>A
g.43072048G>A
-
-
CBS_000052
-
PubMed: Sperandeo 1995
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
Pat2
PubMed: Sperandeo 1995
-
-
-
Italy
2 carrier brothers
-
0
-
pyridoxine responsive
1
Johan den Dunnen
+/.
3
c.172C>T
-
r.(?)
p.Arg58Trp
Unknown
-
NA
g.44492132G>A
g.43072022G>A
-
-
CBS_000213
expression cloning in E.coli, CBs activity 0.013
PubMed: de Franchis 1999
-
-
In vitro (cloned)
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
3
c.172C>T
-
r.(?)
p.(Arg58Trp)
Parent #1
-
pathogenic
g.44492132G>A
g.43072022G>A
-
-
CBS_000213
-
PubMed: de Franchis 1999
,
PubMed: Kraus 1999
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
GT (2241)
PubMed: de Franchis 1999
,
PubMed: Kraus 1999
-
-
-
Italy
-
-
0
-
not pyridoxine responsive
1
Johan den Dunnen
+/.
?
c.172C>T
-
r.(?)
p.(Arg58Trp)
Parent #2
-
pathogenic
g.44492132G>A
g.43072022G>A
-
-
CBS_000213
-
PubMed: de Franchis 1998
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
Pat6
PubMed: de Franchis 1998
-
-
-
Italy
-
-
0
-
not pyridoxine responsive
1
Johan den Dunnen
?/.
-
c.172C>T
-
r.(?)
p.(Arg58Trp)
Unknown
-
VUS
g.44492132G>A
g.43072022G>A
CBS(NM_001178008.2):c.172C>T (p.R58W)
-
CBS_000213
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
3
c.194A>C
-
r.(?)
p.(His65Pro)
Unknown
-
pathogenic
g.44492110T>G
g.43072000T>G
-
-
CBS_000212
-
CBS mutation database, Linnebank
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
-
CBS mutation database, Linnebank
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
3
c.194A>G
-
r.(?)
p.(His65Arg)
Unknown
-
pathogenic
g.44492110T>C
g.43072000T>C
-
-
CBS_000211
-
PubMed: Chen 1999
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
-
PubMed: Chen 1999
-
-
-
Japan
-
-
0
-
-
1
Johan den Dunnen
+/.
3
c.194A>G
-
r.(?)
p.(His65Arg)
Parent #1
-
pathogenic
g.44492110T>C
g.43072000T>C
-
-
CBS_000211
CBS activity 0.02 nM/mg/h; no variant 2nd allele identified
PubMed: Janosik 2001
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
Pat11
PubMed: Janosik 2001
-
M
-
Czech Republic
-
-
0
-
not pyridoxine responsive
1
Johan den Dunnen
+/.
3
c.194A>G
-
r.(?)
p.(His65Arg)
Unknown
-
pathogenic
g.44492110T>C
g.43072000T>C
-
-
CBS_000211
-
CBS mutation database, Linnebank
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
-
CBS mutation database, Linnebank
-
-
-
Germany
-
-
0
-
-
1
Johan den Dunnen
+/.
3_3i
c.208_209+8del
-
r.spl
p.0?
Parent #1
-
pathogenic
g.44492089_44492098del
g.43071979_43071988del
69_70+8del
-
CBS_000209
-
PubMed: Urreizti 2006
-
-
Germline
-
-
FokI+
0
-
DNA
SEQ
-
-
CBSD
Pat64
PubMed: Urreizti 2006
-
-
-
Argentina
-
-
0
-
-
1
Johan den Dunnen
-?/.
-
c.209C>T
-
r.(?)
p.(Pro70Leu)
Unknown
-
likely benign
g.44492095G>A
-
CBS(NM_001178008.2):c.209C>T (p.P70L)
-
CBS_000228
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.209+1G>A
-
r.spl?
p.?
Unknown
-
pathogenic
g.44492094C>T
g.43071984C>T
CBS(NM_000071.2):c.209+1G>A (p.?)
-
CBS_000029
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
3i
c.209+1G>A
-
r.[-8_209del,153_209del]
p.?
Maternal (confirmed)
-
pathogenic
g.44492094C>T
g.43071984C>T
-
-
CBS_000029
-
PubMed: Gordon 1997
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
Pat1
PubMed: Gordon 1997
-
-
-
England;Wales
-
-
0
-
not pyridoxine responsive
1
Johan den Dunnen
+/.
3i
c.209+1G>A
-
r.[153_209del,-8_209del]
p.?
Unknown
-
pathogenic
g.44492094C>T
g.43071984C>T
IVS1+1G>A
-
CBS_000029
-
CBS mutation database, Linnebank
-
-
Germline
-
-
-
0
-
DNA, RNA
RT-PCR, SEQ
-
-
CBSD
-
CBS mutation database, Linnebank
-
-
-
Brazil
-
-
0
-
-
1
Johan den Dunnen
+/.
3i
c.209+1G>A
-
r.[153_209del,-8_209del]
p.?
Unknown
-
pathogenic
g.44492094C>T
g.43071984C>T
IVS1+1G>A
-
CBS_000029
-
PubMed: Gaustadnes 2002
-
-
Germline
-
-
-
0
-
DNA, RNA
RT-PCR, SEQ
-
-
CBSD
-
PubMed: Gaustadnes 2002
-
-
-
United Kingdom (Great Britain)
Anglo-Celtic
-
0
-
not pyridoxine responsive
1
Johan den Dunnen
+/.
3i
c.209+1G>A
-
r.[153_209del,-8_209del]
p.?
Parent #2
-
pathogenic
g.44492094C>T
g.43071984C>T
IVS1+1G>A
-
CBS_000029
-
PubMed: Urreizti 2003
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
Pat15
PubMed: Urreizti 2003
-
-
-
Spain
-
-
0
-
not pyridoxine responsive
1
Johan den Dunnen
+/.
3i
c.209+1G>A
-
r.[153_209del,-8_209del]
p.?
Unknown
-
pathogenic
g.44492094C>T
g.43071984C>T
IVS1+1G>A
-
CBS_000029
-
CBS mutation database, Linnebank
-
-
Germline
-
-
-
0
-
DNA, RNA
RT-PCR, SEQ
-
-
CBSD
-
CBS mutation database, Linnebank
-
-
-
Germany
-
-
0
-
partially pyridoxine responsive
1
Johan den Dunnen
+/.
3i
c.209+1_209+2insC
-
r.spl
p.?
Unknown
-
pathogenic
g.44492093_44492094insG
g.43071983_43071984insG
IVS1+1insC
-
CBS_000210
-
PubMed: Gaustadnes 2002
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
-
PubMed: Gaustadnes 2002
-
-
-
United Kingdom (Great Britain)
Anglo-Celtic
-
0
-
pyridoxine responsive
1
Johan den Dunnen
+/.
3i
c.210-1G>C
-
r.spl
p.?
Parent #1
-
pathogenic
g.44488726C>G
g.43068616C>G
IVS1-1G>C
-
CBS_000208
-
PubMed: Janosik 2001
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
Pat8 (sib10)
PubMed: Janosik 2001
-
M
-
Czech Republic
-
-
0
-
not pyridoxine responsive
1
Johan den Dunnen
+/.
3i
c.210-1G>C
-
r.spl
p.?
Parent #1
-
pathogenic
g.44488726C>G
g.43068616C>G
IVS1-1G>C
-
CBS_000208
CBS activity 0.03 nM/mg/h
PubMed: Janosik 2001
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
Pat10 (sib8)
PubMed: Janosik 2001
-
M
-
Czech Republic
-
-
0
-
not pyridoxine responsive
1
Johan den Dunnen
+/.
3i
c.210-1G>C
-
r.spl
p.?
Unknown
-
pathogenic
g.44488726C>G
g.43068616C>G
IVS2-1G>C
-
CBS_000208
-
PubMed: Sokolova 2001
-
-
Germline
-
1/9770000 chromosomes
-
0
-
DNA
SEQ
-
-
Healthy/Control
-
PubMed: Sokolova 2001
biochemical screen 4885000 individuals
-
-
-
-
-
0
-
-
1
Johan den Dunnen
-?/.
-
c.215A>T
-
r.(?)
p.(Lys72Ile)
Unknown
-
likely benign
g.44488720T>A
-
CBS(NM_000071.2):c.215A>T (p.(Lys72Ile))
-
CBS_000224
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
4
c.233C>G
-
r.(?)
p.Pro78Arg
Unknown
-
NA
g.44488702G>C
g.43068592G>C
-
-
CBS_000207
expression cloning in E.coli, CBs activity 0.126-0.609
PubMed: de Franchis 1994
-
-
In vitro (cloned)
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
4
c.233C>G
-
r.233c>g
p.Pro78Arg
Paternal (confirmed)
-
pathogenic
g.44488702G>C
g.43068592G>C
-
-
CBS_000207
both 0,5 activity
PubMed: de Franchis 1994
-
-
Germline
-
-
-
0
-
DNA, RNA
RT-PCR, SEQ
-
-
CBSD
PatWC/TC/MC
PubMed: de Franchis 1994
-
-
-
Ireland
Irish
-
0
-
pyridoxine responsive
1
Johan den Dunnen
+/.
4
c.233C>G
-
r.233c>g
p.Pro78Arg
Paternal (confirmed)
-
pathogenic
g.44488702G>C
g.43068592G>C
-
-
CBS_000207
both 0,5 activity
PubMed: de Franchis 1994
-
-
Germline
-
-
-
0
-
DNA, RNA
RT-PCR, SEQ
-
-
CBSD
PatTC
PubMed: de Franchis 1994
family, 3 affected sibs
-
-
Ireland
Irish
-
0
-
pyridoxine responsive
1
Johan den Dunnen
+/.
4
c.253G>A
-
r.(?)
p.(Gly85Arg)
Parent #2
-
pathogenic
g.44488682C>T
g.43068572C>T
-
-
CBS_000206
-
PubMed: Maclean 2002
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
Pat1
PubMed: Maclean 2002
-
F
-
Denmark
-
-
0
-
not pyridoxine responsive
1
Johan den Dunnen
+/.
4
c.253G>A
-
r.(?)
p.(Gly85Arg)
Both (homozygous)
-
pathogenic
g.44488682C>T
g.43068572C>T
-
-
CBS_000206
-
PubMed: De Lucca 2004
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
Pat390/1110
PubMed: De Lucca 2004
-
-
-
Venezuela
-
-
0
-
partially pyridoxine responsive
1
Johan den Dunnen
+/.
4
c.253G>A
-
r.(?)
p.(Gly85Arg)
Unknown
-
pathogenic
g.44488682C>T
g.43068572C>T
-
-
CBS_000206
-
CBS mutation database, De Lucca
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
-
CBS mutation database, De Lucca
-
-
-
Venezuela
-
-
0
-
not pyridoxine responsive
1
Johan den Dunnen
+/.
4
c.253G>A
-
r.(?)
p.(Gly85Arg)
Unknown
-
pathogenic
g.44488682C>T
g.43068572C>T
-
-
CBS_000206
-
PubMed: Cozar 2011
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
-
PubMed: Cozar 2011
-
-
-
Argentina
-
-
0
-
-
1
Johan den Dunnen
+/.
4
c.253G>A
-
r.(?)
p.(Gly85Arg)
Unknown
-
pathogenic
g.44488682C>T
g.43068572C>T
-
-
CBS_000206
-
PubMed: Cozar 2011
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
-
PubMed: Cozar 2011
-
-
-
Argentina
-
-
0
-
-
1
Johan den Dunnen
+/.
?
c.253G>A
-
r.(?)
p.(Gly85Arg)
Parent #1
-
pathogenic
g.44488682C>T
g.43068572C>T
-
-
CBS_000206
-
PubMed: Kraus 1999
, M Gaustadnes
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
EH
PubMed: Kraus 1999
, M Gaustadnes
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
-
c.253G>A
-
r.(?)
p.(Gly85Arg)
Parent #1
-
pathogenic
g.44488682C>T
g.43068572C>T
-
-
CBS_000206
1 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs863223435
Germline
-
1/2792 individuals
-
0
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
0
-
-
1
Mohammed Faruq
+/.
4
c.256del
-
r.(?)
p.(Asp86Thrfs*16)
Unknown
-
pathogenic
g.44488682del
g.43068572del
G253del
-
CBS_000205
-
CBS mutation database, Linnebank
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
-
CBS mutation database, Linnebank
-
-
-
Brazil
-
-
0
-
-
1
Johan den Dunnen
+/.
4
c.260C>A
-
r.(?)
p.(Thr87Asn)
Unknown
-
pathogenic
g.44488675G>T
g.43068565G>T
-
-
CBS_000204
-
CBS mutation database, De Lucca
-
-
Germline
-
-
MslI-
0
-
DNA
SEQ
-
-
CBSD
-
CBS mutation database, De Lucca
-
-
-
Venezuela
-
-
0
-
not pyridoxine responsive
1
Johan den Dunnen
+/.
4
c.262C>T
-
r.(?)
p.(Pro88Ser)
Parent #2
-
pathogenic
g.44488673G>A
g.43068563G>A
-
-
CBS_000203
-
PubMed: Sebastio 1995
-
-
Germline
-
-
MnlI+
0
-
DNA
SEQ
-
-
CBSD
Pat3a (SS)
PubMed: Sebastio 1995
family, 3 affected
-
-
Italy
-
-
0
-
pyridoxine responsive
1
Johan den Dunnen
+/.
?
c.262C>T
-
r.(?)
p.(Pro88Ser)
Parent #2
-
pathogenic
g.44488673G>A
g.43068563G>A
-
-
CBS_000203
-
PubMed: de Franchis 1998
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
Pat3
PubMed: de Franchis 1998
-
-
-
Italy
-
-
0
-
pyridoxine responsive
1
Johan den Dunnen
+/.
?
c.262C>T
-
r.(?)
p.(Pro88Ser)
Parent #2
-
pathogenic
g.44488673G>A
g.43068563G>A
-
-
CBS_000203
-
PubMed: Sebastio 1995
-
-
Germline
-
-
MnlI+
0
-
DNA
SEQ
-
-
CBSD
Pat3b (SR)
PubMed: Sebastio 1995
-
-
-
Italy
-
-
0
-
pyridoxine responsive
1
Johan den Dunnen
+/.
?
c.262C>T
-
r.(?)
p.(Pro88Ser)
Parent #2
-
pathogenic
g.44488673G>A
g.43068563G>A
-
-
CBS_000203
-
PubMed: Sebastio 1995
-
-
Germline
-
-
MnlI+
0
-
DNA
SEQ
-
-
CBSD
Pat3c (SG)
PubMed: Sebastio 1995
-
-
-
Italy
-
-
0
-
pyridoxine responsive
1
Johan den Dunnen
+/.
4
c.302T>C
-
r.(?)
p.(Leu101Pro)
Parent #1
-
pathogenic
g.44488633A>G
g.43068523A>G
-
-
CBS_000202
no variant 2nd allele identified
PubMed: Gallagher 1998
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
Pat005
PubMed: Gallagher 1998
-
-
-
Ireland
Irish
-
0
-
-
1
Johan den Dunnen
+/.
4
c.302T>C
-
r.(?)
p.(Leu101Pro)
Both (homozygous)
-
pathogenic
g.44488633A>G
g.43068523A>G
-
-
CBS_000202
-
PubMed: Gallagher 1998
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
Pat245/248 (sibs)
PubMed: Gallagher 1998
-
-
-
Ireland
Irish
-
0
-
-
1
Johan den Dunnen
+/.
4
c.302T>C
-
r.(?)
p.(Leu101Pro)
Parent #2
-
pathogenic
g.44488633A>G
g.43068523A>G
-
-
CBS_000202
-
PubMed: Gallagher 1998
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
Pat040 (cousin of 245/248
PubMed: Gallager 1998
-
-
-
Ireland
Irish
-
0
-
-
1
Johan den Dunnen
+/.
4
c.302T>C
-
r.(?)
p.(Leu101Pro)
Unknown
-
pathogenic
g.44488633A>G
g.43068523A>G
-
-
CBS_000202
-
PubMed: Gaustadnes 2002
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
-
PubMed: Gaustadnes 2002
-
-
-
United Kingdom (Great Britain)
Anglo-Celtic
-
0
-
pyridoxine responsive
1
Johan den Dunnen
+/.
4
c.302T>C
-
r.(?)
p.(Leu101Pro)
Parent #1
-
pathogenic
g.44488633A>G
g.43068523A>G
-
-
CBS_000202
-
PubMed: Kruger 2003
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
Pat6
PubMed: Kruger 2003
-
-
-
-
white
-
0
-
not pyridoxine responsive
1
Johan den Dunnen
?/.
4
c.304A>C
-
r.(?)
p.(Lys102Gln)
Unknown
-
VUS
g.44488631T>G
g.43068521T>G
-
-
CBS_000001
-
-
-
-
Germline
-
-
-
0
-
DNA
SEQ-NG
-
-
-
-
PubMed: Bell 2011
-
-
-
-
-
-
0
-
-
1
Global Variome, with Curator vacancy
-?/.
-
c.304A>C
-
r.(?)
p.(Lys102Gln)
Unknown
-
likely benign
g.44488631T>G
g.43068521T>G
CBS(NM_000071.2):c.304A>C (p.K102Q, p.(Lys102Gln))
-
CBS_000001
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.304A>C
-
r.(?)
p.(Lys102Gln)
Unknown
-
benign
g.44488631T>G
g.43068521T>G
CBS(NM_000071.2):c.304A>C (p.K102Q, p.(Lys102Gln))
-
CBS_000001
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
4
c.304A>C
-
r.(?)
p.(Lys102Gln)
Both (homozygous)
-
pathogenic
g.44488631T>G
g.43068521T>G
-
-
CBS_000001
-
PubMed: Kozich 1997
-
-
Germline
-
-
PstI+
0
-
DNA
SEQ
-
-
CBSD
3149
PubMed: Kozich 1997
-
-
-
-
Arab
-
0
-
not pyridoxine responsive
1
Johan den Dunnen
+/.
4
c.304A>C
-
r.(?)
p.(Lys102Gln)
Parent #1
-
pathogenic
g.44488631T>G
g.43068521T>G
304A>C;IVS4-29del129
-
CBS_000001
-
CBS mutation database, Linnebank
-
-
Germline
-
-
PstI+
0
-
DNA
SEQ
-
-
CBSD
Pat
CBS mutation database, Linnebank
-
-
-
Israel
-
-
0
-
-
1
Johan den Dunnen
+/.
4
c.304A>C
-
r.(?)
p.(Lys102Gln)
Parent #1
-
pathogenic
g.44488631T>G
g.43068521T>G
304A>C;IVS4-29del129
-
CBS_000001
-
CBS mutation database, Linnebank
-
-
Germline
-
-
PstI+
0
-
DNA
SEQ
-
-
CBSD
Pat
CBS mutation database, Linnebank
-
-
-
Israel
-
-
0
-
-
1
Johan den Dunnen
-/.
-
c.304A>C
-
r.(?)
p.(Lys102Gln)
Unknown
-
benign
g.44488631T>G
-
CBS(NM_000071.2):c.304A>C (p.K102Q, p.(Lys102Gln))
-
CBS_000001
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
4
c.306G>C
-
r.(?)
p.Lys12Asn
Unknown
-
NA
g.44488629C>G
g.43068519C>G
-
-
CBS_000201
expression cloning in E.coli, CBs activity 0.333-0.387
PubMed: de Franchis 1994
-
-
In vitro (cloned)
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
4
c.306G>C
-
r.306g>c
p.Lys102Asn
Paternal (confirmed)
-
pathogenic
g.44488629C>G
g.43068519C>G
-
-
CBS_000201
both 0,5 activity
PubMed: de Franchis 1994
-
-
Germline
-
-
-
0
-
DNA, RNA
RT-PCR, SEQ
-
-
CBSD
PatWC/TC/MC
PubMed: de Franchis 1994
-
-
-
Ireland
Irish
-
0
-
pyridoxine responsive
1
Johan den Dunnen
+/.
4
c.306G>C
-
r.306g>c
p.Lys102Asn
Paternal (confirmed)
-
pathogenic
g.44488629C>G
g.43068519C>G
-
-
CBS_000201
both 0,5 activity
PubMed: de Franchis 1994
-
-
Germline
-
-
-
0
-
DNA, RNA
RT-PCR, SEQ
-
-
CBSD
PatTC
PubMed: de Franchis 1994
family, 3 affected sibs
-
-
Ireland
Irish
-
0
-
pyridoxine responsive
1
Johan den Dunnen
+/.
4
c.313_316del
-
r.(?)
p.(Leu105Trpfs*13)
Parent #2
-
pathogenic
g.44488619_44488622del
g.43068509_43068512del
-
-
CBS_000200
-
PubMed: Kraus 1999
, V Shih
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
MGL199 (DM)
PubMed: Kraus 1999
, V Shih
-
-
-
Canada
France;United Kingdom (Great Britain)
-
0
-
not pyridoxine responsive
1
Johan den Dunnen
-/.
-
c.316+728C>T
-
r.(=)
p.(=)
Unknown
-
benign
g.44487891G>A
g.43067781G>A
CBS(NM_000071.2):c.316+728C>T, CBSL(NM_001354006.1):c.316+728C>T
-
CBS_000028
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.325T>C
-
r.(?)
p.(Cys109Arg)
Unknown
-
pathogenic
g.44486479A>G
g.43066369A>G
CBS(NM_001321072.1):c.10T>C (p.C4R)
-
CBS_000051
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
5
c.325T>C
-
r.(?)
p.(Cys109Arg)
Unknown
-
pathogenic
g.44486479A>G
g.43066369A>G
-
-
CBS_000051
-
PubMed: Gaustadnes 2002
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
-
PubMed: Gaustadnes 2002
-
-
-
United Kingdom (Great Britain)
Anglo-Celtic
-
0
-
pyridoxine responsive
1
Johan den Dunnen
+/.
5
c.325T>C
-
r.(?)
p.(Cys109Arg)
Unknown
-
pathogenic
g.44486479A>G
g.43066369A>G
-
-
CBS_000051
-
PubMed: Gaustadnes 2002
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
-
PubMed: Gaustadnes 2002
-
-
-
United Kingdom (Great Britain)
Anglo-Celtic
-
0
-
not pyridoxine responsive
1
Johan den Dunnen
+/.
5
c.325T>C
-
r.(?)
p.(Cys109Arg)
Unknown
-
pathogenic
g.44486479A>G
g.43066369A>G
-
-
CBS_000051
-
PubMed: Gaustadnes 2002
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
-
PubMed: Gaustadnes 2002
-
-
-
United Kingdom (Great Britain)
Anglo-Celtic
-
0
-
not pyridoxine responsive
1
Johan den Dunnen
-?/.
-
c.339C>T
-
r.(?)
p.(Asn113=)
Unknown
-
likely benign
g.44486465G>A
-
CBS(NM_000071.2):c.339C>T (p.(=))
-
CBS_000235
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
5
c.341C>T
-
r.(?)
p.Ala114Val
Unknown
-
NA
g.44486463G>A
g.43066353G>A
-
-
CBS_000199
expression cloning in E.coli, CBs activity 0-0.545
PubMed: Kozich 1993
,
PubMed: de Franchis 1999
-
-
In vitro (cloned)
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
5
c.341C>T
-
r.(?)
p.(Ala114Val)
Parent #1
-
pathogenic
g.44486463G>A
g.43066353G>A
-
-
CBS_000199
-
PubMed: de Franchis 1999
,
PubMed: Kraus 1999
-
-
Germline
-
-
MaeII+
0
-
DNA
SEQ
-
-
CBSD
GT (2241)
PubMed: de Franchis 1999
,
PubMed: Kraus 1999
-
-
-
Italy
-
-
0
-
not pyridoxine responsive
1
Johan den Dunnen
+/.
5
c.341C>T
-
r.(?)
p.(Ala114Val)
Parent #1
-
pathogenic
g.44486463G>A
g.43066353G>A
-
-
CBS_000199
-
PubMed: Kozich 1993
-
-
Germline
-
-
MaeII+
0
-
DNA
SEQ
-
-
CBSD
Pat676
PubMed: Kozich 1993
-
F
-
Ireland;Germany
activity 0-0.20
-
0
-
pyridoxine responsive
1
Johan den Dunnen
+/.
5
c.341C>T
-
r.(?)
p.(Ala114Val)
Unknown
-
pathogenic
g.44486463G>A
g.43066353G>A
-
-
CBS_000199
-
PubMed: de Franchis 1999
-
-
Germline
-
-
MaeII+
0
-
DNA
SEQ
-
-
CBSD
-
PubMed: de Franchis 1999
-
-
-
Italy
-
-
0
-
pyridoxine responsive
1
Johan den Dunnen
+/.
5
c.341C>T
-
r.(?)
p.(Ala114Val)
Unknown
-
pathogenic
g.44486463G>A
g.43066353G>A
-
-
CBS_000199
-
PubMed: de Franchis 1999
-
-
Germline
-
-
MaeII+
0
-
DNA
SEQ
-
-
CBSD
-
PubMed: de Franchis 1999
-
-
-
Italy
-
-
0
-
pyridoxine responsive
1
Johan den Dunnen
+/.
5
c.341C>T
-
r.(?)
p.(Ala114Val)
Unknown
-
pathogenic
g.44486463G>A
g.43066353G>A
-
-
CBS_000199
-
PubMed: de Franchis 1999
-
-
Germline
-
-
MaeII+
0
-
DNA
SEQ
-
-
CBSD
-
PubMed: de Franchis 1999
-
-
-
Italy
-
-
0
-
pyridoxine responsive
1
Johan den Dunnen
+/.
5
c.341C>T
-
r.(?)
p.(Ala114Val)
Unknown
-
pathogenic
g.44486463G>A
g.43066353G>A
-
-
CBS_000199
-
PubMed: de Franchis 1999
-
-
Germline
-
-
MaeII+
0
-
DNA
SEQ
-
-
CBSD
-
PubMed: de Franchis 1999
-
-
-
Italy
-
-
0
-
pyridoxine responsive
1
Johan den Dunnen
+/.
5
c.341C>T
-
r.(?)
p.(Ala114Val)
Parent #2
-
pathogenic
g.44486463G>A
g.43066353G>A
-
-
CBS_000199
CBS activity 0.13 nM/mg/h
PubMed: Janosik 2001
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
CBSD
Pat18
PubMed: Janosik 2001
-
M
-
Czech Republic
-
-
0
-
pyridoxine responsive
1
Johan den Dunnen
+/.
5
c.341C>T
-
r.(?)
p.(Ala114Val)
Parent #1
-
pathogenic
g.44486463G>A
g.43066353G>A
-
-
CBS_000199
-
PubMed: de Franchis 1999
,
PubMed: Kraus 1999
-
-
Germline
-
-
MaeII+
0
-
DNA
SEQ
-
-
CBSD
AnD (sib 2242)
PubMed: de Franchis 1999
,
PubMed: Kraus 1999
-
-
-
Italy
-
-
0
-
pyridoxine responsive
1
Johan den Dunnen
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