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

 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
|
+/. |
8i_26_ |
c.(1120+1_1121-1)_*1814{0} |
r.? |
p.? |
Unknown |
- |
pathogenic (dominant) |
g.(?_10618332)_(10631009_10632228)del |
- |
1121-?_3657+?del |
- |
JAG1_000654 |
- |
PubMed: Guegan 2012 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
TOF |
- |
PubMed: Guegan 2012 |
- |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
5i_26_ |
c.(755+1_756-1)_*1814{0} |
r.? |
p.? |
Unknown |
- |
pathogenic (dominant) |
g.(?_10618332)_(10633247_10637045)del |
- |
756-?_3657+?del |
- |
JAG1_000655 |
- |
PubMed: Guegan 2012 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
TOF |
- |
PubMed: Guegan 2012 |
- |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1i_26_ |
c.(81+1_82-1)_*1814{0} |
r.? |
p.? |
Unknown |
- |
pathogenic (dominant) |
g.(?_10618332)_(10653655_10654097)del |
- |
del ex2-26 |
- |
JAG1_000656 |
- |
PubMed: Li 2015 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
? |
PubMed: Li 2015 |
- |
F |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_5i |
c.-516_(755+1_756-1){0} |
r.0? |
p.0? |
Unknown |
- |
pathogenic (dominant) |
g.(10633247_10637045)_(10654694_?)del |
- |
del ex1-5 |
- |
JAG1_000717 |
- |
PubMed: Li 2015 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
? |
PubMed: Li 2015 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_1i |
c.-516_(81+1_82-1){0} |
r.0? |
p.0? |
Unknown |
- |
pathogenic (dominant) |
g.(10653655_10654097)_(10654694_?)del |
g.(10673007_10673449)_(10674046_?)del |
del ex1 |
- |
JAG1_000731 |
- |
PubMed: Samejima 2007 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
DHPLC, SEQ |
- |
- |
ALGS1 |
? |
PubMed: Samejima 2007 |
family history |
F |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_10618332)_(10654694_?)del |
- |
deletion JAG1 gene, incl. YAC 940D11 |
- |
JAG1_000000 |
- |
PubMed: Warthen 2006 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
- |
PubMed: Warthen 2006 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_10618332)_(10654694_?)del |
- |
deletion JAG1 gene, region between BAC clones RP11-8P7 and RP11-103H2 inclusive |
- |
JAG1_000000 |
- |
PubMed: Warthen 2006 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
- |
PubMed: Warthen 2006 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_10618332)_(10654694_?)del |
- |
deletion JAG1 gene, region between BAC clones RP11-8P7 and RP11-103H2 inclusive |
- |
JAG1_000000 |
- |
PubMed: Warthen 2006 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
- |
PubMed: Warthen 2006 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_10618332)_(10654694_?)del |
- |
deletion JAG1 gene, region between BAC clones RP11-8P7 and RP11-162P21 inclusive |
- |
JAG1_000000 |
- |
PubMed: Warthen 2006 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
- |
PubMed: Warthen 2006 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_10618332)_(10654694_?)del |
- |
deletion JAG1 gene, region between BAC clones RP11-8P7 and RP11-162P21 inclusive |
- |
JAG1_000000 |
- |
PubMed: Warthen 2006 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
- |
PubMed: Warthen 2006 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_10618332)_(10654694_?)del |
- |
deletion JAG1 gene, region between YAC clones 854B1 and 940D11 inclusive |
- |
JAG1_000000 |
- |
PubMed: Warthen 2006 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
- |
PubMed: Warthen 2006 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_10618332)_(10654694_?)del |
- |
deletion JAG1 gene, region between YAC clones 854B1 and 940D11 inclusive |
- |
JAG1_000000 |
- |
PubMed: Warthen 2006 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
- |
PubMed: Warthen 2006 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_10618332)_(10654694_?)del |
- |
deletion JAG1 gene, region between YAC clones40D11 and 964H2 inclusive |
- |
JAG1_000000 |
- |
PubMed: Warthen 2006 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
- |
PubMed: Warthen 2006 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_10560458)_(10656087_?)del |
- |
0.095 Mb deletion (10508458-10604087 NCBI35) |
- |
JAG1_000000 |
- |
PubMed: Kamath 2009 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-I |
- |
- |
ALGS1 |
Pat1 |
PubMed: Kamath 2009 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic (dominant) |
g.(?_10618332)_(10654694_?)del |
g.(?_10637684)_(10674046_?)del |
1.3MB del |
- |
JAG1_000000 |
- |
PubMed: Yuan 2001 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
? |
PubMed: Yuan 2001 |
- |
- |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic (dominant) |
g.(?_10618332)_(10654694_?)del |
g.(?_10637684)_(10674046_?)del |
entire gene deletion |
- |
JAG1_000000 |
- |
PubMed: Li 2015 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
? |
PubMed: Li 2015 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic (dominant) |
g.(?_10618332)_(10654694_?)del |
g.(?_10637684)_(10674046_?)del |
entire gene deletion |
- |
JAG1_000000 |
- |
PubMed: Li 2015 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
? |
PubMed: Li 2015 |
- |
F |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic (dominant) |
g.(?_10618332)_(10654694_?)del |
g.(?_10637684)_(10674046_?)del |
entire gene deletion |
- |
JAG1_000000 |
- |
PubMed: Li 2015 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
? |
PubMed: Li 2015 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
ACMG |
pathogenic (dominant) |
g.(?_10601004)_(13194264_?)del |
- |
gross deletion 10601004-13194264 |
- |
JAG1_000000 |
- |
PubMed: Ohashi 2017 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
arrayCGH |
- |
- |
ALGS1 |
Pat21 |
PubMed: Ohashi 2017 |
- |
F |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
ACMG |
pathogenic (dominant) |
g.(?_9085395)_(11982624_?)del |
- |
gross deletion 9085395-11982624 |
- |
JAG1_000000 |
- |
PubMed: Ohashi 2017 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
arrayCGH |
- |
- |
ALGS1 |
Pat22 |
PubMed: Ohashi 2017 |
- |
M |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
ACMG |
pathogenic (dominant) |
g.(?_8821878)_(17500428_?)del |
- |
gross deletion 8821878-17500428 |
- |
JAG1_000000 |
- |
PubMed: Ohashi 2017 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
arrayCGH |
- |
- |
ALGS1 |
Pat23 |
PubMed: Ohashi 2017 |
- |
F |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_9685413)_(20253840)?)del |
- |
10.57 Mb deletion (9685413-20253840) |
- |
JAG1_000508 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-I |
- |
- |
ALGS1 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_9091235)_(15063679_?)del |
- |
5.97 Mb deletion (9039235-15011679 NCBI35) |
- |
JAG1_000503 |
- |
PubMed: Kamath 2009 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-I |
- |
- |
ALGS1 |
Pat16 |
PubMed: Kamath 2009 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_10004874)_(14172443_?)del |
- |
4.17 Mb deletion (9952874-14120443 NCBI35) |
- |
JAG1_000510 |
- |
PubMed: Kamath 2009 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-I |
- |
- |
ALGS1 |
Pat13 |
PubMed: Kamath 2009 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_5761024)_(14066276_?)del |
- |
8.31 Mb deletion (5709024-14014276 NCBI35) |
- |
JAG1_000495 |
- |
PubMed: Kamath 2009 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-I |
- |
- |
ALGS1 |
Pat18 |
PubMed: Kamath 2009 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_10432766)_(13712393_?)del |
- |
3.28 Mb deletion (10380766-13660393 NCBI35) |
- |
JAG1_000512 |
- |
PubMed: Kamath 2009 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-I |
- |
- |
ALGS1 |
Pat9 |
PubMed: Kamath 2009 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_8808310)_(13247568_?)del |
- |
4.44 Mb deletion (8756310-13195568 NCBI35) |
- |
JAG1_000501 |
- |
PubMed: Kamath 2009 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-I |
- |
- |
ALGS1 |
Pat14 |
PubMed: Kamath 2009 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_10360051)_(12798054_?)del |
- |
2.44 Mb deletion (10308051-12746054 NCBI35) |
- |
JAG1_000511 |
- |
PubMed: Kamath 2009 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-I |
- |
- |
ALGS1 |
Pat6 |
PubMed: Kamath 2009 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Maternal (confirmed) |
- |
pathogenic |
g.(?_7106353)_(12769237_?)del |
- |
5.66 Mb deletion (7054353-12717237 NCBI35) |
- |
JAG1_000496 |
- |
PubMed: Kamath 2009 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-I |
- |
- |
ALGS1 |
Pat15 |
PubMed: Kamath 2009 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_8573437)_(12418350_?)del |
- |
3.84 Mb deletion (8521437-12366350 NCBI35) |
- |
JAG1_000499 |
- |
PubMed: Kamath 2009 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-I |
- |
- |
ALGS1 |
Pat10 |
PubMed: Kamath 2009 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_9504468)_(12332526_?)del |
- |
2.83 Mb deletion (9452468-12280526 NCBI35) |
- |
JAG1_000505 |
- |
PubMed: Kamath 2009 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-I |
- |
- |
ALGS1 |
Pat7 |
PubMed: Kamath 2009 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic (dominant) |
g.(?_9251107)_(12214763_?)del |
- |
2.96 Mb deletion (9251107-12214763) |
- |
JAG1_000504 |
- |
PubMed: Lin 2012 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-I |
- |
- |
ALGS1 |
Pat17 |
PubMed: Lin 2012 |
- |
- |
- |
Viet Nam |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_8096130)_(12096897_?)del |
- |
4.00 Mb deletion (8044130-12044897 NCBI35) |
- |
JAG1_000498 |
- |
PubMed: Kamath 2009 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-I |
- |
- |
ALGS1 |
Pat12 |
PubMed: Kamath 2009 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_8865006)_(11896206_?)del |
- |
3.03 Mb deletion (8813006-11844206 NCBI35) |
- |
JAG1_000502 |
- |
PubMed: Warthen 2006, PubMed: Kamath 2009 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-I |
- |
- |
ALGS1 |
Pat8 |
PubMed: Warthen 2006, PubMed: Kamath 2009 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic (dominant) |
g.(?_8647519)_(11490289_?)del |
- |
2.84 Mb deletion (8647519-11490289) |
- |
JAG1_000500 |
- |
PubMed: Lin 2012 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-I |
- |
- |
ALGS1 |
Pat18 |
PubMed: Lin 2012 |
- |
- |
- |
Viet Nam |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_4039627)_(11442419_?)del |
- |
7.40 Mb deletion (3987627-11390419 NCBI35) |
- |
JAG1_000494 |
- |
PubMed: Kamath 2009 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-I |
- |
- |
ALGS1 |
Pat17 |
PubMed: Kamath 2009 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_10523952)_(11385119_?)del |
- |
861 Kb deletion (10523952-11385119) |
- |
JAG1_000514 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-I |
- |
- |
ALGS1 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_7435615)_(11320829_?)del |
- |
3.89 Mb deletion (7383615-11268829 NCBI35) |
- |
JAG1_000497 |
- |
PubMed: Kamath 2009 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-I |
- |
- |
ALGS1 |
Pat11 |
PubMed: Kamath 2009 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Paternal (confirmed) |
- |
pathogenic |
g.(?_9525601)_(11079205_?)del |
- |
1.55 Mb deletion (9473601-11027205 NCBI35) |
- |
JAG1_000506 |
- |
PubMed: Kamath 2009 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-I |
- |
- |
ALGS1 |
Pat4 |
PubMed: Kamath 2009 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_9919383)_(10769877_?)del |
- |
0.85 Mb deletion (9867383-10717877 NCBI35) |
- |
JAG1_000509 |
- |
PubMed: Laufer-Cahana 2002, PubMed: Kamath 2009 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-I |
- |
- |
ALGS1 |
Pat2 |
PubMed: Laufer-Cahana 2002, PubMed: Kamath 2009 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_9562922)_(10743024_?)del |
- |
1.18 Mb deletion (9510922-10691024 NCBI35) |
- |
JAG1_000507 |
- |
PubMed: Kamath 2009 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-I |
- |
- |
ALGS1 |
Pat3 |
PubMed: Kamath 2009 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_10402074)_(10658979_?)del |
- |
257 Kb deletion (10402074-10658979) |
- |
JAG1_000513 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-I |
- |
- |
ALGS1 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
_1_2i |
c.516_387+1662{0} |
r.0? |
p.0? |
Unknown |
- |
pathogenic |
g.10651687_10659738del |
- |
deletion ex1-2 (c.5560_387+1662del) |
- |
JAG1_000491 |
- |
PubMed: Warthen 2006 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-I |
- |
- |
ALGS1 |
- |
PubMed: Warthen 2006 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
_1_2i |
c.-516_(387+1_388-1){0} |
r.0? |
p.0? |
Unknown |
- |
pathogenic |
g.(10644663_10653348)_(10654694_?)del |
- |
deletion ex1-2 |
- |
JAG1_000614 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ, MLPA |
- |
- |
ALGS1 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
_1_2i |
c.-516_(387+1_388-1){0} |
r.0? |
p.0? |
Unknown |
- |
pathogenic |
g.(10644663_10653348)_(10654694_?)del |
- |
deletion ex1-2 |
- |
JAG1_000614 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ, MLPA |
- |
- |
ALGS1 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
_1_23i |
c.-516_(2916+1_2917-1){0} |
r.0? |
p.0? |
Unknown |
- |
pathogenic |
g.(10621893_10622107)_(10654694_?)del |
- |
deletion ex1-23 |
- |
JAG1_000535 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ, MLPA |
- |
- |
ALGS1 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
_1_25i |
c.-516_(3199+1_3200-1){2} |
r.? |
p.? |
Unknown |
- |
pathogenic |
g.(10644663_10653348)_(10654694_?)dup |
- |
duplication ex1-25 |
- |
JAG1_000520 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ, MLPA |
- |
- |
ALGS1 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
- |
c.(?_-516)_(*1814_?)del |
r.0? |
p.0? |
Unknown |
- |
pathogenic |
g.9200001_17900000del |
g.9200001_17900000del |
JAG1 del20p12.1-p12.2, |
- |
JAG1_000783 |
heterozygous |
PubMed: Thorsteinsson 2021 |
- |
- |
Unknown |
? |
- |
- |
- |
- |
DNA |
SEQ-NG |
- |
retrospective analysis |
retinal disease |
AgS1 |
PubMed: Thorsteinsson 2021 |
- |
? |
- |
Iceland |
- |
- |
- |
- |
- |
1 |
LOVD |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_10618332)_(10654694_?)del |
- |
whole gene deletion |
- |
JAG1_000517 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ, MLPA |
- |
- |
ALGS1 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_10618332)_(10654694_?)del |
- |
whole gene deletion |
- |
JAG1_000517 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ, MLPA |
- |
- |
ALGS1 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_10618332)_(10654694_?)del |
- |
whole gene deletion |
- |
JAG1_000517 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ, MLPA |
- |
- |
ALGS1 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_10618332)_(10654694_?)del |
- |
whole gene deletion |
- |
JAG1_000517 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ, MLPA |
- |
- |
ALGS1 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
1_1i |
c.-119_82-38del |
r.0? |
p.0? |
Unknown |
- |
pathogenic |
g.10653692_10654297del |
g.10673044_10673649del |
partial deletion ex1 |
- |
JAG1_000744 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-I |
- |
- |
ALGS1 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
- |
c.-100C>T |
r.(?) |
p.(=) |
Unknown |
ACMG |
pathogenic |
g.10654278G>A |
g.10673630G>A |
- |
- |
JAG1_000734 |
ACMG PS2, PM2, PS4_m, PS3_m; luciferase assay in HEK293T and Huh7 cell lines using a vector containing the JAG1 5’UTR and promoter regions upstream of the firefly luciferase coding sequence showed significantly decreased luciferase activity for the variant |
PubMed: Stalke 2018
PubMed: Buhl 2022 |
- |
- |
De novo |
- |
not found in gnomAD v2.1.1 |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
Fam26PatLP89 |
PubMed: Stalke 2018 |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
1 |
Amelie Stalke |
+/. |
_1_26_ |
c.(?_-97)_(*170_?)del |
r.0 |
p.0 |
Unknown |
ACMG |
pathogenic (dominant) |
g.(?_10619976)_(10654275_?)del |
- |
deletion 10619976-1065275 |
- |
JAG1_000746 |
- |
PubMed: Togawa 2016 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
arrayCGH |
- |
- |
ALGS1 |
NCU10 |
PubMed: Togawa 2016 |
- |
F |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
1 |
c.-26_9del |
r.(?) |
p.0? |
Unknown |
- |
pathogenic (dominant) |
g.10654170_10654204del |
g.10673522_10673556del |
-26del35 |
- |
JAG1_000733 |
- |
PubMed: Guegan 2012 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
TOF |
- |
PubMed: Guegan 2012 |
- |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
?/. |
- |
- |
r.(?) |
p.(=) |
Unknown |
- |
VUS |
g.pter_(17900001_25600000)delins[NC_000001.10:g.pter_(92000001_94700000)] |
g.pter_(17900001_25700000)delins[NC_000001.11:g.pter_(91500001_94300000)] |
t(1;20)(p.22.1;p11.2) |
t(1;20)(p.22.1;p11.2) |
JAG1_000493 |
- |
PubMed: Warthen 2006 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-I |
- |
- |
ALGS1 |
- |
PubMed: Warthen 2006 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
?/. |
_1_26_ |
- |
r.(?) |
p.(=) |
Unknown |
- |
VUS |
g.[NC_000001.10:g.pter_(92000001_94700000)delinspter_(17900001_25600000) |
g.[NC_000001.11:g.pter_(91500001_94300000)]delinspter_(17900001_25700000) |
t(1;20)(p.22.1;p11.2) |
t(1;20)(p.22.1;p11.2) |
JAG1_000493 |
- |
PubMed: Warthen 2006 |
- |
- |
DUPLICATE record |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-I |
- |
- |
ALGS1 |
- |
PubMed: Warthen 2006 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
_1_2i |
c.-516_(387+1_388-1){0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(10644663_10653348)_(10654694_?)del |
- |
deletion ex1-2 |
- |
JAG1_000614 |
- |
PubMed: Warthen 2006 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
- |
PubMed: Warthen 2006 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Maternal (confirmed) |
- |
pathogenic (dominant) |
g.(?_10618332)_(10654694_?)del |
g.(?_10637684)_(10674046_?)del |
- |
- |
JAG1_000000 |
detected using FISH (cosmid 3e9), mosaic in mother |
PubMed: Giannakudis 2001 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
Fam4 |
PubMed: Giannakudis 2001 |
mother (mosaic) and affected son |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic (dominant) |
g.(?_10618332)_(10654694_?)del |
g.(?_10637684)_(10674046_?)del |
gene deletion |
- |
JAG1_000000 |
- |
PubMed: Rand 1995 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ, MLPA |
- |
- |
ALGS1 |
- |
PubMed: Rand 1995 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic (dominant) |
g.10618332_10654694{0} |
g.10637684_10674046{0} |
- |
- |
JAG1_000000 |
600 kb deletion incl. JAG1 |
PubMed: Oda 1997 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
FISH |
- |
- |
ALGS1 |
FamA |
PubMed: Oda 1997 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic (dominant) |
g.(?_10618332)_(10654694_?)del |
g.(?_10637684)_(10674046_?)del |
- |
- |
JAG1_000000 |
1.3 Mb deletion |
PubMed: Yuan 1998 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR, Southern |
- |
- |
ALGS1 |
FamU3 |
PubMed: Yuan 1998 |
- |
- |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Paternal (confirmed) |
- |
pathogenic (dominant) |
g.(?_9298889)_(11610454_?)del |
- |
2.31 Mb deletion (9246889-11558454 NCBI35) |
- |
JAG1_000000 |
- |
PubMed: Kamath 2009 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
arrayCGH |
- |
- |
ALGS1 |
Pat5 |
PubMed: Kamath 2009 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_26_ |
c.-516_*1814{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic (dominant) |
g.(?_7370428)_(21985498_?)del |
- |
12.96 Mb deletion (7318428-21933498 NCBI35) |
- |
JAG1_000000 |
- |
PubMed: Kamath 2009 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
arrayCGH |
- |
- |
ALGS1 |
Pat21 |
PubMed: Kamath 2009 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_3i |
c.-518_(439+768_?){1} |
r.? |
p.? |
Unknown |
- |
pathogenic |
g.(?_10643843)_(11323281_?)inv |
- |
inversion (10663195-11342633 hg38?) |
- |
JAG1_000745 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019, Rajagopalan in prep. |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-I |
- |
- |
ALGS1 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019, Rajagopalan in prep. |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
?/. |
- |
c.? |
r.? |
p.? |
Unknown |
- |
VUS |
g.pter_(5100001_17900000)delins[NC_000002.11:g.(135100001_136800000)_qterinv] |
g.pter_(5100001_17900000)delins[NC_000002.12:g.(134300001_136100000)_qterinv] |
t(2;20)(q21.3;p12) |
46,XX, t(2;20)(q21.3;p12) |
JAG1_000492 |
- |
PubMed: Spinner 1994, PubMed: Kamath 2009 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-I |
- |
- |
ALGS1 |
- |
PubMed: Spinner 1994, PubMed: Kamath 2009 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
?/. |
- |
c.? |
r.? |
p.? |
Unknown |
- |
VUS |
g.[NC_000002.11:g.(135100001_136800000)_qter]delinspter_(5100001_17900000)inv |
g.[NC_000002.12:g.(134300001_136100000)_qter]delinspter_(5100001_17900000)inv |
t(2;20)(q21.3;p12) |
46,XX, t(2;20)(q21.3;p12) |
JAG1_000492 |
- |
PubMed: Spinner 1994, PubMed: Kamath 2009 |
- |
- |
DUPLICATE record |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-I |
- |
- |
ALGS1 |
- |
PubMed: Spinner 1994, PubMed: Kamath 2009 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
- |
c.3G>A |
r.(?) |
p.0? |
Parent #1 |
- |
pathogenic |
g.10654176C>T |
g.10673528C>T |
- |
- |
JAG1_000625 |
1 heterozygous, no homozygous; Clinindb (India) |
PubMed: Narang 2020, Journal: Narang 2020 |
- |
rs863223647 |
Germline |
- |
1/2785 individuals |
- |
- |
- |
DNA |
arraySNP |
- |
Infinium Global Screening Array v1.0 |
? |
- |
PubMed: Narang 2020, Journal: Narang 2020 |
analysis 2794 individuals (India) |
- |
- |
India |
- |
- |
- |
- |
- |
1 |
Mohammed Faruq |
+/. |
1 |
c.3_4delinsTT |
r.(?) |
p.0? |
Unknown |
- |
pathogenic (dominant) |
g.10654175_10654176delinsAA |
g.10673527_10673528delinsAA |
- |
- |
JAG1_000151 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
PCR |
- |
- |
ALGS1 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
1 |
c.3_4delinsTT |
r.(?) |
p.0? |
Unknown |
- |
pathogenic |
g.10654175_10654176delinsAA |
g.10673527_10673528delinsAA |
3GC>TT |
- |
JAG1_000151 |
- |
PubMed: Colliton 2001 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
- |
PubMed: Colliton 2001 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
1 |
c.11dup |
r.(?) |
p.(Arg5Thrfs*68) |
Unknown |
- |
pathogenic (dominant) |
g.10654168dup |
g.10673520dup |
- |
- |
JAG1_000150 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
PCR |
- |
- |
ALGS1 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
1 |
c.30_36delinsACTCGGGA |
r.(?) |
p.(Gly11Leufs*62) |
Unknown |
- |
pathogenic (dominant) |
g.10654143_10654149delinsTCCCGAGT |
g.10673495_10673501delinsTCCCGAGT |
30CGGGCGC>ACTCGGGA |
- |
JAG1_000448 |
- |
PubMed: Crosnier 2000 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
A265 |
PubMed: Crosnier 2000 |
- |
- |
- |
France |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
- |
c.30_36delinsACTCGGGA |
r.30_36delinsacucggga |
p.Gly11Leufs*62 |
Unknown |
- |
pathogenic (dominant) |
g.10654143_10654149delinsTCCCGAGT |
g.10673495_10673501delinsTCCCGAGT |
30CGGGCGC>ACTCGGGA |
- |
JAG1_000448 |
- |
PubMed: Boyer 2005 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
A265 |
PubMed: Boyer 2005 |
- |
- |
- |
France |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
1 |
c.40del |
r.(?) |
p.(Leu14*) |
Unknown |
- |
pathogenic (dominant) |
g.10654139del |
g.10673491del |
40delC |
- |
JAG1_000447 |
- |
PubMed: Crosnier 2000 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
A265 |
PubMed: Crosnier 2000 |
- |
- |
- |
France |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
1 |
c.41del |
r.(?) |
p.(Leu14Glnfs*32) |
Unknown |
- |
pathogenic |
g.10654138del |
g.10673490del |
454delT |
- |
JAG1_000446 |
- |
PubMed: Crosnier 1999 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
A177 |
PubMed: Crosnier 1999 |
- |
- |
- |
France |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
1 |
c.50T>C |
r.(?) |
p.(Leu17Pro) |
Unknown |
- |
pathogenic |
g.10654129A>G |
g.10673481A>G |
- |
- |
JAG1_000149 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
PCR |
- |
- |
ALGS1 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
1 |
c.53_73del |
r.(?) |
p.(Leu18_Leu24del) |
Unknown |
- |
pathogenic |
g.10654106_10654126del |
g.10673458_10673478del |
- |
- |
JAG1_000143 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
PCR |
- |
- |
ALGS1 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
- |
c.53_73del |
r.(?) |
p.(Leu18_Leu24del) |
Unknown |
- |
pathogenic (dominant) |
g.10654106_10654126del |
g.10673458_10673478del |
48_68del21 |
- |
JAG1_000143 |
- |
PubMed: Colliton 2001 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
- |
PubMed: Colliton 2001 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
1 |
c.59T>C |
r.(?) |
p.(Leu20Pro) |
Unknown |
- |
pathogenic |
g.10654120A>G |
g.10673472A>G |
- |
- |
JAG1_000147 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019, Rajagopalan in prep. |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
PCR |
- |
- |
ALGS1 |
- |
PubMed: Gilbert 2019, Journal: Gilbert 2019, Rajagopalan in prep. |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
1 |
c.59T>C |
r.(?) |
p.(Leu20Pro) |
Unknown |
- |
pathogenic (dominant) |
g.10654120A>G |
g.10673472A>G |
L20P |
- |
JAG1_000147 |
- |
PubMed: Guegan 2012 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
TOF |
- |
PubMed: Guegan 2012 |
- |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+?/. |
1 |
c.59T>G |
r.(?) |
p.(Leu20Arg) |
Maternal (confirmed) |
- |
likely pathogenic |
g.10654120A>C |
g.10673472A>C |
- |
- |
JAG1_000148 |
- |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR |
- |
- |
ALGS1 |
- |
- |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
- |
c.59T>G |
r.(?) |
p.(Leu20Arg) |
Maternal (confirmed) |
- |
pathogenic (dominant) |
g.10654120A>C |
g.10673472A>C |
- |
- |
JAG1_000148 |
- |
PubMed: Izumi 2016 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
family |
PubMed: Izumi 2016 |
mother and affected twins |
- |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+?/. |
1 |
c.63_74del |
r.(?) |
p.(Cys22_Arg25del) |
Maternal (confirmed) |
- |
pathogenic |
g.10654105_10654116del |
g.10673457_10673468del |
- |
- |
JAG1_000142 |
maternally-inherited |
PubMed: Warthen 2006 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR |
- |
- |
ALGS1 |
- |
PubMed: Warthen 2006 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+?/. |
1 |
c.64T>C |
r.(?) |
p.(Cys22Arg) |
Unknown |
- |
likely pathogenic (dominant) |
g.10654115A>G |
g.10673467A>G |
- |
- |
JAG1_000146 |
- |
PubMed: Lin 2012 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
PCR |
- |
- |
ALGS1 |
Pat1 |
PubMed: Lin 2012 |
- |
- |
- |
Viet Nam |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
+/. |
1 |
c.65del |
r.(?) |
p.(Cys22Leufs*24) |
Unknown |
- |
pathogenic (dominant) |
g.10654114del |
g.10673466del |
65delG |
- |
JAG1_000732 |
- |
PubMed: Li 2015 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
? |
PubMed: Li 2015 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
1 |
c.66_67del |
r.(?) |
p.(Ala23Profs*49) |
Unknown |
- |
pathogenic |
g.10654112_10654113del |
g.10673464_10673465del |
66_67delTG |
- |
JAG1_000145 |
- |
PubMed: Colliton 2001 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
- |
PubMed: Colliton 2001 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
- |
c.68_69delinsG |
r.(?) |
p.(Ala23GlyfsTer23) |
Unknown |
- |
pathogenic |
g.10654110_10654111delinsC |
g.10673462_10673463delinsC |
JAG1(NM_000214.3):c.68_69delCCinsG (p.A23Gfs*23) |
- |
JAG1_000103 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
1 |
c.70del |
r.(?) |
p.(Leu24Cysfs*22) |
Unknown |
- |
pathogenic |
g.10654109del |
g.10673461del |
68delC |
- |
JAG1_000144 |
- |
PubMed: Colliton 2001 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
- |
PubMed: Colliton 2001 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
1 |
c.73C>T |
r.(?) |
p.(Arg25*) |
Unknown |
- |
pathogenic |
g.10654106G>A |
g.10673458G>A |
486C>T |
- |
JAG1_000445 |
- |
PubMed: Crosnier 1999 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
A50n |
PubMed: Crosnier 1999 |
- |
- |
- |
France |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
1 |
c.73_81+3del |
r.spl |
p.? |
Unknown |
- |
pathogenic |
g.10654095_10654106del |
g.10673447_10673458del |
486del12 |
- |
JAG1_000443 |
- |
PubMed: Heritage 2000 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
Pat2-2-1 |
PubMed: Heritage 2000 |
- |
- |
- |
Australia |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
- |
c.81+1G>A |
r.spl |
p.? |
Unknown |
- |
pathogenic |
g.10654097C>T |
g.10673449C>T |
- |
- |
JAG1_000141 |
- |
PubMed: Warthen 2006 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA, RNA |
PCR |
- |
- |
ALGS1 |
- |
PubMed: Warthen 2006 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Melissa Gilbert |
-?/. |
- |
c.81+184G>C |
r.(=) |
p.(=) |
Unknown |
- |
likely benign |
g.10653914C>G |
- |
JAG1(NM_000214.3):c.81+184G>C |
- |
JAG1_000832 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-?/. |
- |
c.82-21_82-18dup |
r.(=) |
p.(=) |
Unknown |
- |
likely benign |
g.10653676_10653679dup |
- |
JAG1(NM_000214.3):c.82-21_82-18dupACCT |
- |
JAG1_000863 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
- |
c.82-7_96del |
r.spl |
p.? |
Unknown |
- |
pathogenic (dominant) |
g.10653640_10653661del |
g.10672992_10673013del |
82-7del22 |
- |
JAG1_000739 |
- |
PubMed: Crosnier 2000 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
A287 |
PubMed: Crosnier 2000 |
- |
- |
- |
France |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
- |
c.82-6C>A |
r.81_82insgcag |
p.? |
Unknown |
- |
pathogenic (dominant) |
g.10653660G>T |
g.10673012G>T |
CM030050 |
- |
JAG1_000639 |
- |
PubMed: Vázquez-Martínez 2014 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA, RNA |
RT-PCR, SEQ |
- |
- |
ALGS1 |
Pat1 |
PubMed: Vázquez-Martínez 2014 |
- |
- |
- |
Mexico |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
- |
c.82-2A>G |
r.spl |
p.? |
Paternal (confirmed) |
- |
pathogenic (dominant) |
g.10653656T>C |
g.10673008T>C |
495-2A>G |
- |
JAG1_000641 |
- |
PubMed: Ropke 2003 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
Pat17 |
PubMed: Ropke 2003 |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
2 |
c.84del |
r.(?) |
p.(Cys29Valfs*17) |
Unknown |
- |
pathogenic (dominant) |
g.10653652del |
g.10673004del |
497delG |
- |
JAG1_000442 |
- |
PubMed: Ropke 2003 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
Pat34 |
PubMed: Ropke 2003 |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
2 |
c.92C>T |
r.(?) |
p.(Ala31Val) |
Paternal (confirmed) |
- |
pathogenic (dominant) |
g.10653644G>A |
g.10672996G>A |
505C>T |
- |
JAG1_000441 |
- |
PubMed: Ropke 2003 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
Pat27 |
PubMed: Ropke 2003 |
- |
- |
- |
Germany |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
2 |
c.97G>A |
r.(?) |
p.(Gly33Ser) |
Unknown |
- |
pathogenic |
g.10653639C>T |
g.10672991C>T |
- |
- |
JAG1_000139 |
- |
PubMed: Warthen 2006 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
ALGS1 |
- |
PubMed: Warthen 2006 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |