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)
- 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-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
|
-/. |
- |
c.-10538G>T |
r.(?) |
p.(=) |
Unknown |
- |
benign |
g.102495480G>T |
g.100735723G>T |
PAX2(NM_001304569.2):c.15G>T (p.A5=) |
- |
PAX2_000134 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-/. |
- |
c.-203A>G |
r.(?) |
p.(=) |
Unknown |
- |
benign |
g.102505815A>G |
g.100746058A>G |
- |
- |
PAX2_000127 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-?/. |
- |
c.-160G>T |
r.(?) |
p.(=) |
Unknown |
- |
likely benign |
g.102505858G>T |
g.100746101G>T |
- |
- |
PAX2_000128 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/+ |
_1_3i |
c.(?_-30)_(410+1_411-1)del |
r.0? |
p.0? |
Unknown |
- |
pathogenic |
g.(?_102505988)_(102510649_102539254)del |
- |
(?_-30)_(410+?)del |
- |
PAX2_000100 |
- |
PubMed: Heidet 2017 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
arrayCGH |
- |
- |
kidney disease |
- |
PubMed: Heidet 2017 |
Patient K62 in published report |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
_1_11_ |
c.(?_-30)_(*220_?)del |
r.0? |
p.0? |
Unknown |
- |
pathogenic |
g.(?_102505988)_(102587660_?)del |
- |
- |
- |
PAX2_000096 |
- |
PubMed: Heidet 2017 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ-NG-I |
- |
- |
kidney disease |
- |
PubMed: Heidet 2017 |
Patient K72 in published report |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
_1_11_ |
c.-550_*2258{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_95210010)_(103110010_?)del |
g.(?_93450253)_(101350253_?)del |
hg18:g.(?_95,200,000)_(103,100,000_?)del |
46,XX,del(10)(q23.2q24.3) |
PAX2_000069 |
genome build not reported, assumed to be hg18, deletion encompasses 90 genes including PAX2 |
PubMed: Benetti 2007 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
arrayCGH |
- |
- |
kidney disease |
- |
PubMed: Benetti 2007 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
_1_11_ |
c.-550_*2258{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(99928954_99948269)_(103741327_103757755)del |
g.(98169197_98188512)_(101981570_101997998)del |
hg18:g.(99918944_99938259)_(103731317_103747745)del |
- |
PAX2_000070 |
3.79 Mb deletion includes 44 genes |
PubMed: Hoefele 2012 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
arrayCGH |
- |
- |
kidney disease |
- |
PubMed: Hoefele 2012 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
_1_11_ |
c.-550_*2258{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_102448010)_(102688010_?)del |
g.(?_100688253)_(100928253_?)del |
hg18:g.(?_102438000)_(102678000_?)del |
- |
PAX2_000071 |
240kb deletion, includes PAX2 and portion FAM178A gene |
PubMed: Raca 2011 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
arrayCGH |
- |
- |
kidney disease |
- |
PubMed: Laimutus 2012 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
_1_11_ |
c.-550_*2258{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_102250275)_(107787788_?)del |
g.(?_100490518)_(106028031_?)del |
hg19:g.(?_102250275)_(107787788_?)del |
- |
PAX2_000102 |
additional 90 genes deleted along with PAX2 |
PubMed: Peltekova 2014 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
arrayCGH |
- |
- |
? |
- |
PubMed: Peltekova 2014 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
_1_11_ |
c.-550_*2258{0} |
r.0 |
p.0 |
Unknown |
- |
pathogenic |
g.(?_102020722)_(102825352 _?)del |
g.(?_100260965)_(101065595_?)del |
hg19:g.(?_102020722)_(102825352 _?)del |
- |
PAX2_000069 |
19 total genes in deleted segment |
PubMed: Pfundt 2017 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ-NG-I |
- |
- |
kidney disease |
- |
PubMed: Pfundt 2017 |
Patient 64 in published report- no details about phenotype provided beyond
enal disease |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
? |
c.? |
r.? |
p.? |
Unknown |
- |
pathogenic |
g.? |
- |
46,XY,t(10;13)(q24.3q12.3) |
46,XY,t(10;13)(q24.3q12.3) |
PAX2_000043 |
translocation breakpoint believed to localize to intron 3 or 4 by Southern blot RFLP analysis |
PubMed: Narahara 1997 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
Southern |
- |
- |
kidney disease |
- |
PubMed: Narahara 1997 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+?/+? |
1 |
c.5A>G |
r.(?) |
p.(Asp2Gly) |
Unknown |
- |
likely pathogenic |
g.102506022A>G |
g.100746265A>G |
- |
- |
PAX2_000086 |
- |
PubMed: Barua 2014 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
CAKUT |
- |
PubMed: Barua 2014 |
Individual CKT35C in publication |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+?/. |
1 |
c.8T>C |
r.(?) |
p.(Met3Thr) |
Maternal (confirmed) |
ACMG |
VUS |
g.102506025T>C |
g.100746268T>C |
- |
- |
PAX2_000172 |
Mother is heterozygous, Father (variant not found). |
- |
- |
rs754968736 |
Germline |
? |
- |
BciVI+, MslI- |
- |
- |
DNA |
SEQ-NG-I |
gDNA from peripheral blood |
whole exome sequencing |
PAPRS |
APEC-Patient 5 |
unpublished |
familial case |
F |
no |
Mexico |
- |
- |
- |
- |
none |
1 |
Miriam Erandi Reyna-Fabián |
+/+ |
1i |
c.43+1G>C |
r.spl |
p.? |
Unknown |
- |
pathogenic |
g.102506061G>C |
g.100746304G>C |
- |
- |
PAX2_000044 |
- |
PubMed: Bower 2012 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Bower 2012 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
-?/. |
- |
c.43+3G>A |
r.spl? |
p.? |
Unknown |
- |
likely benign |
g.102506063G>A |
- |
PAX2(NM_003988.4):c.43+3G>A |
- |
PAX2_000175 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-/. |
- |
c.43+10G>C |
r.(=) |
p.(=) |
Unknown |
- |
benign |
g.102506070G>C |
g.100746313G>C |
PAX2(NM_003988.5):c.43+10G>C |
- |
PAX2_000156 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-/. |
- |
c.43+10G>C |
r.(=) |
p.(=) |
Unknown |
- |
benign |
g.102506070G>C |
g.100746313G>C |
PAX2(NM_003988.5):c.43+10G>C |
- |
PAX2_000156 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-/. |
- |
c.43+10G>C |
r.(=) |
p.(=) |
Unknown |
- |
benign |
g.102506070G>C |
g.100746313G>C |
PAX2(NM_003988.5):c.43+10G>C |
- |
PAX2_000156 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/+ |
2 |
c.58_64dup |
r.(?) |
p.(Gln22Argfs*34) |
Unknown |
- |
pathogenic |
g.102509517_102509523dup |
g.100749760_100749766dup |
57_58insGTGAACC |
- |
PAX2_000094 |
- |
PubMed: Okumura et al.,2015 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ-NG-I |
- |
- |
kidney disease |
- |
PubMed: Okumura et al.,2015 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.59del |
r.(?) |
p.(Val20Glyfs*9) |
Unknown |
- |
pathogenic |
g.102509518del |
g.100749761del |
- |
- |
PAX2_000002 |
somatic mosaicism |
PubMed: Chung 2001 |
- |
- |
Somatic |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Chung 2001 |
De novo with normal Allele specific oligonucleotide test in parents. |
F |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.68del |
r.(?) |
p.(Leu23Profs*6) |
Unknown |
- |
pathogenic |
g.102509527del |
g.100749770del |
- |
- |
PAX2_000003 |
- |
PubMed: Cunliffe 1998 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Cunliffe 1998 |
Patient 985 in original published report. |
M |
- |
Netherlands |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.69del |
r.(?) |
p.(Val26Cysfs*3) |
Unknown |
- |
pathogenic |
g.102509528del |
g.100749771del |
- |
- |
PAX2_000004 |
- |
PubMed: Negrisolo 2010 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Negrisolo 2010 |
De novo with normal parental sequencing. |
F |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
?/. |
- |
c.70G>C |
r.(?) |
p.(Gly24Arg) |
Unknown |
- |
VUS |
g.102509529G>C |
g.100749772G>C |
- |
- |
PAX2_000135 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+?/+? |
2 |
c.71G>A |
r.(?) |
p.(Gly24Glu) |
Unknown |
- |
likely pathogenic |
g.102509530G>A |
g.100749773G>A |
- |
- |
PAX2_000005 |
- |
PubMed: Thomas 2011 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Thomas 2011 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
?/. |
- |
c.73G>C |
r.(?) |
p.(Gly25Arg) |
Unknown |
- |
VUS |
g.102509532G>C |
g.100749775G>C |
- |
- |
PAX2_000129 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+?/+? |
2 |
c.74G>T |
r.(?) |
p.(Gly25Val) |
Unknown |
- |
likely pathogenic |
g.102509533G>T |
- |
- |
- |
PAX2_000045 |
- |
PubMed: Bower 2012 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Bower 2012 |
Mother of family 7; patient 1 |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+?/+? |
2 |
c.74G>T |
r.(?) |
p.(Gly25Val) |
Maternal (confirmed) |
- |
likely pathogenic |
g.102509533G>T |
- |
- |
- |
PAX2_000045 |
de novo in mother |
PubMed: Bower 2012 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Bower 2012 |
Child of family 7; patient 1 |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.75_76dup |
r.(?) |
p.(Val26Glyfs*4) |
Unknown |
- |
pathogenic |
g.102509534_102509535dup |
g.100749777_100749778dup |
- |
- |
PAX2_000007 |
- |
PubMed: Amiel 2000 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Amiel 2000 |
Normal sequencing in mother; father unavailable for analysis. |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76del |
r.(?) |
p.(Val26Cysfs*3) |
Maternal (confirmed) |
- |
pathogenic |
g.102509535del |
g.100749778del |
- |
- |
PAX2_000006 |
de novo in mother |
{PMID:Schimmenti 1999} |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
{PMID:Schimmenti 1999} |
Daughter of family 8; patient 2. Patient 12961 in original published report. |
F |
- |
- |
white |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76del |
r.(?) |
p.(Val26Cysfs*3) |
Unknown |
- |
pathogenic |
g.102509535del |
g.100749778del |
- |
- |
PAX2_000006 |
- |
PubMed: Schimmenti 1999 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Schimmenti 1999 |
Mother of family 8; patient 1. Patient 12962 in original published report. |
F |
- |
- |
white |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76del |
r.(?) |
p.(Val26Cysfs*3) |
Maternal (confirmed) |
- |
pathogenic |
g.102509535del |
g.100749778del |
- |
- |
PAX2_000006 |
de novo in mother |
PubMed: Heidet 2017, {PMID:Schimmenti 1999} |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Heidet 2017, {PMID:Schimmenti 1999} |
Patient K133 in published report |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/. |
- |
c.76dup |
r.(?) |
p.(Val26GlyfsTer28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
PAX2(NM_003987.3):c.76dup (p.(Val26GlyfsTer28)), PAX2(NM_003987.5):c.76dupG (p.V26Gfs*28) |
- |
PAX2_000001 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Sanyanusin 1995 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Sanyanusin 1995 |
Sibling to Family 31; patient 2. Parents had normal ophthalmological exam and no renal disease; mother normal SSCP |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Sanyanusin 1995 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Sanyanusin 1995 |
Sibling to Family 31; patient 1. Parents had normal ophthalmological exam and no renal disease; mother normal SSCP |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Bower 2012 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Bower 2012 |
Inherited from affected father (Family 32; patient 2) |
M |
- |
United States |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Bower 2012 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Bower 2012 |
Father of Family32;patient 1. Apparently de novo origin for this patient. |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Cheong 2007 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Cheong 2007 |
patient 3 in publication |
M |
- |
Korea |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Cheong 2007 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Cheong 2007 |
Patient 4 in publication |
F |
- |
Korea |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Cheong 2007 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Cheong 2007 |
Patient 5 in publication |
M |
- |
Korea |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Maternal (inferred) |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Cheong 2007 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Cheong 2007 |
Sibling of Family 18; patient 1. Maternal germline mosaicism. Patient 1 in publication |
- |
- |
Korea |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Maternal (inferred) |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Cheong 2007 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Cheong 2007 |
Sibling to Family 18; patient 1. Maternal germline mosaicism. Patient 2 in publication |
M |
- |
Korea |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Amiel 2000 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Amiel 2000 |
Patient RA in publication. |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Paternal (inferred) |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Amiel 2000 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Amiel 2000 |
Patient PE in publication. |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Paternal (inferred) |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Amiel 2000 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Amiel 2000 |
Sibling to Family 21;patients 2 &3. Paternal germline mosaicism. Patient AR-II1 in publication. |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Paternal (inferred) |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Amiel 2000 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Amiel 2000 |
Sibling to Family 21; Patients 1&3. Paternal germline mosaicism. Patient AR-II2 in publication. |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Paternal (inferred) |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Amiel 2000 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Amiel 2000 |
Sibling to family 21; patients 1 &2. Paternal germline mosaicism. Patient AR-II3 in publication. |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Weber 2006 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Weber 2006 |
Sibling to Family 22;Patient 2. PAX2 mutation inherited from clinically affected father. Patient also harbored a maternally inherited p.(Asp227Tyr) variant in the SIX1 gene. Patient GDA3 in publication. |
F |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Weber 2006 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Weber 2006 |
Sibling to Family 22;Patient 2. PAX2 mutation inherited from clinically affected father. Patient also harbored a maternally inherited p.(Asp227Tyr) variant in the SIX1 gene. Patient GDA4 in publication. |
F |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Weber 2006 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Weber 2006 |
Patient PRA9 in original publication. |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Weber 2006 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Weber 2006 |
Patient PAR16 in original publication. De novo with normal parental testing. |
F |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Salomon 2001 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Salomon 2001 |
Patient 2 in original published report. |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
germline mosaicism |
PubMed: Salomon 2001 |
- |
- |
Somatic |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Salomon 2001 |
Patient 3 in original published report. de novo with normal parental sequencing. |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Schimmenti 1997 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Schimmenti 1997 |
Mother of family 27;patient 2. Unknown origin. Patient 656 in original report. |
F |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Maternal (confirmed) |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Schimmenti 1997 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Schimmenti 1997 |
Child of family 27;patient 1. Patient 657 in original published report. |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Weber 2006 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Weber 2006 |
Father of Family 22; patients 1 and 2. Did not come to clinical attention until diagnosis in daughters. Normal ophthalmological exam. |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Schimmenti 1997 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Schimmenti 1997 |
Patient 2646 in original published report |
F |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Schimmenti 1999 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Schimmenti 1999 |
Patient 8691 in original report. |
F |
- |
United States |
African American |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Paternal (inferred) |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
germline and somatic mosaicism |
PubMed: Bower 2012 |
- |
- |
Somatic |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Bower 2012 |
Sibling to Family 10; patient 2. Inherited from father with optic nerve coloboma. Father is mutation negative in blood, fibroblast, and oral mucosa. |
F |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
germline and somatic mosaicism |
PubMed: Bower 2012 |
- |
- |
Somatic |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Bower 2012 |
Sibling to Family 10; patient 1. Inherited from father with optic nerve coloboma. Father is mutation negative in blood, fibroblast, and oral mucosa. |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Bower 2012 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Bower 2012 |
de novo with normal parental sequencing. |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Bower 2012 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Bower 2012 |
de novo with normal parental sequencing. |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Bower 2012 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Bower 2012 |
De novo with normal parental sequencing. |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Tagami 2010 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Tagami 2010 |
- |
- |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Bower 2012 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
? |
- |
PubMed: Bower 2012 |
Offspring of Family 31; patient 2. |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Maternal (inferred) |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Bower 2012 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Bower 2012 |
Paternal half niece to family 31; patients 1&2. |
F |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Porteous 2000 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Porteous 2000 |
Patient X2003 in original report. |
M |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Beby 2010 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Beby 2010 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26Glyfs*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Thomas 2011 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Thomas 2011 |
Noted as c.69_70insC in original manuscript. |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Paternal (confirmed) |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Ford 2001 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Ford 2001 |
Patient IV-7 in original published report. Child of family 84; patient 2. Male sibling had severe renal hypoplasia and olighydramnios prenatally, but not tested for mutation. |
M |
- |
Switzerland;United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Paternal (confirmed) |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Ford 2001 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Ford 2001 |
Individual III-19 in original publication. Father of family 84; patient 1. Two pregnancies with severe oligohydramnios. Brother to family 84; patient 3. |
M |
- |
Switzerland;United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Paternal (confirmed) |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Ford 2001 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Ford 2001 |
Individual III-21 in original publication. Sister to family 84; patient 2. |
F |
- |
Switzerland;United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Ford 2001 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Ford 2001 |
Individual II-3 in original publication. Father of family 84; patients 2 and 3. |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
- |
- |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Gucev 2009 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Gucev 2009 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Yoshimura 2005 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Yoshimura 2005 |
De novo with normal parental sequencing and normal parental renal and ophthalmological exams. |
F |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Maternal (confirmed) |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Madariaga 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Madariaga 2013 |
Patient P1 in manuscript |
- |
- |
- |
- |
0y |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Madariaga 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Madariaga 2013 |
Mother of patient P1 in manuscript |
F |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Paternal (inferred) |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Ohtsubo 2012 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Ohtsubo et al. 2012 |
Patient 1 in published manuscript |
F |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Paternal (inferred) |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Ohtsubo 2012 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Ohtsubo 2012 |
Patient 2 in published manuscript- father died after 4th renal transplant. He was not tested for familial mutation. |
F |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Maternal (confirmed) |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Sato 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Sato 2013 |
Proband (patient III-4) in published report. |
F |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Maternal (confirmed) |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Sato 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Sato 2013 |
Individual III-7 in published report (younger brother of proband) |
M |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Maternal (inferred) |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Sato 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Sato 2013 |
Individual II-4 in the published report. Mother of proband. |
F |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Hwang 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
CAKUT |
- |
PubMed: Hwang 2013 |
Individual A3148-21 in published report |
M |
- |
- |
European |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
presumed de novo- no prior family history |
PubMed: Iwafuchi 2016 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Iwafuchi 2016 |
Father in published report |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Paternal (confirmed) |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Iwafuchi 2016 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Iwafuchi 2016 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Paternal (confirmed) |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Iwafuchi 2016 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Iwafuchi 2016 |
younger child in published report |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
NM_003987.3:69_70insG |
- |
PAX2_000001 |
- |
PubMed: Nicolaou 2016 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ-NG-I |
- |
- |
CAKUT |
- |
PubMed: Nicolaou 2016 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
NM_003987.3:69_70insG |
- |
PAX2_000001 |
- |
PubMed: Nicolaou 2016 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ-NG-I |
- |
- |
CAKUT |
- |
PubMed: Nicolaou 2016 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.76dup |
r.(?) |
p.(Val26GlyFS*28) |
Unknown |
- |
pathogenic |
g.102509535dup |
g.100749778dup |
- |
- |
PAX2_000001 |
- |
PubMed: Heidet 2017 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ-NG-I |
- |
- |
kidney disease |
- |
PubMed: Heidet 2017 |
Patient K148 in published report |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/. |
- |
c.76dup |
r.(?) |
p.(Val26GlyfsTer28) |
Unknown |
- |
pathogenic |
g.102509535dup |
- |
PAX2(NM_003987.3):c.76dup (p.(Val26GlyfsTer28)), PAX2(NM_003987.5):c.76dupG (p.V26Gfs*28) |
- |
PAX2_000001 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+?/+? |
2 |
c.92_97del |
r.(?) |
p.(Arg31_Pro32del) |
Unknown |
- |
likely pathogenic |
g.102509551_102509556del |
g.100749794_100749799del |
- |
- |
PAX2_000008 |
- |
PubMed: Weber 2006 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Weber 2006 |
Patient PRA1 in original published report. |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+?/. |
- |
c.95C>G |
r.(?) |
p.(Pro32Arg) |
Unknown |
ACMG |
VUS |
g.102509554C>G |
- |
- |
- |
PAX2_000165 |
- |
- |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ-NG-I |
- |
- |
PAPRS |
IR_GH_0135 |
- |
- |
M |
- |
Korea, South (Republic) |
- |
- |
- |
- |
- |
1 |
Jinu Han |
-?/. |
- |
c.96C>G |
r.(?) |
p.(Pro32=) |
Unknown |
- |
likely benign |
g.102509555C>G |
- |
PAX2(NM_003988.4):c.96C>G (p.P32=) |
- |
PAX2_000176 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-?/. |
- |
c.97C>T |
r.(?) |
p.(Leu33=) |
Unknown |
- |
likely benign |
g.102509556C>T |
- |
PAX2(NM_003988.4):c.97C>T (p.L33=) |
- |
PAX2_000167 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+?/+? |
2 |
c.98T>G |
r.(?) |
p.(Leu33Arg) |
Unknown |
- |
likely pathogenic |
g.102509557T>G |
g.100749800T>G |
- |
- |
PAX2_000046 |
- |
PubMed: Bower 2012 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Bower 2012 |
no reported family history |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
?/. |
- |
c.103G>C |
r.(?) |
p.(Asp35His) |
Unknown |
- |
VUS |
g.102509562G>C |
g.100749805G>C |
PAX2(NM_000278.3):c.103G>C (p.(Asp35His)) |
- |
PAX2_000137 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+?/+? |
2 |
c.115_120del |
r.(?) |
p.(Gln39_Arg40del) |
Unknown |
- |
likely pathogenic |
g.102509574_102509579del |
g.100749817_100749822del |
- |
- |
PAX2_000009 |
- |
PubMed: Salomon 2001 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
kidney disease |
- |
PubMed: Salomon 2001 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.119_120del |
r.(?) |
p.(Arg40Hisfs*13) |
Maternal (confirmed) |
- |
pathogenic |
g.102509578_102509579del |
g.100749821_100749822del |
- |
- |
PAX2_000092 |
- |
PubMed: Okumura 2015 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ-NG-I |
- |
- |
kidney disease |
- |
PubMed: Okumura 2015 |
Case1 in published report |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.119_120del |
r.(?) |
p.(Arg40Hisfs*13) |
Maternal (confirmed) |
- |
pathogenic |
g.102509578_102509579del |
g.100749821_100749822del |
- |
- |
PAX2_000092 |
- |
PubMed: Okumura 2015 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ-NG-I |
- |
- |
kidney disease |
- |
PubMed: Okumura 2015 |
Case 2 in published report |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |
+/+ |
2 |
c.119_120del |
r.(?) |
p.(Arg40Hisfs*13) |
Unknown |
- |
pathogenic |
g.102509578_102509579del |
g.100749821_100749822del |
- |
- |
PAX2_000092 |
- |
PubMed: Okumura 2015 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ-NG-I |
- |
- |
kidney disease |
- |
PubMed: Okumura 2015 |
Case 3 in published report |
F |
- |
- |
- |
- |
- |
- |
- |
1 |
Matthew Bower |