Global Variome shared LOVD
PAX3 (paired box 3)
LOVD v.3.0 Build 30b [
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Curator:
Veronique Pingault
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The variants shown are described using the NM_181457.3 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
conflicting
association
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arrayMET = array for methylation analysis
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = single molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
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space
Text
Arg Ser
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|
Text
Arg|Ser
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!
Text
!fs
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^
Text
^p.(Arg
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$
Text
Ser)$
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=""
Text
=""
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=""
Text
="p.0"
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!=""
Text
!=""
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!=""
Text
!="p.0"
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combination
Text
*|Ter !fs
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Date
2020
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|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
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<
Date
<2020
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<=
Date
<=2020-06
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>
Date
>2020-06
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>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
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|
Numeric
23|24
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!
Numeric
!23
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<
Numeric
<23
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<=
Numeric
<=23
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>
Numeric
>23
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>=
Numeric
>=23
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combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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Effect
Exon
DNA change (cDNA)
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.-5466C>T
r.(?)
p.(=)
Unknown
-
VUS
g.223168800G>A
-
CCDC140(NM_153038.1):c.179G>A (p.(Arg60Lys))
-
CCDC140_000010
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
7i_8_
c.(1173+1_1174-1)_*211{0}
r.?
p.?
Unknown
-
pathogenic
g.(?_223066432)_(223066910_223084858)del
-
1173+?_(1452-33_?)del
-
PAX3_000125
Deletion of exons 8 and 9
PubMed: Wildhardt 2013
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
WS
-
PubMed: Wildhardt 2013
-
F
-
-
-
-
-
-
-
1
Veronique Pingault
+/+
4i_8_
c.(586+1_587-1_*211{0}
r.?
p.?
Unknown
-
pathogenic
g.(?_223066432)_(223097003_223158885)del
-
Exon 5-9 deletion
-
PAX3_000109
-
PubMed: Milunsky 2007
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
WS
-
PubMed: Milunsky 2007
-
-
-
-
-
-
-
-
-
1
Veronique Pingault
+/+
_1_8_
c.-381_*211{0}
r.0
p.0
Unknown
-
pathogenic
g.(?_223066432)_(223163715_?)del
-
deletion 2q35-q36,1 or deletion (2)(q35q36.2)
-
PAX3_000101
whole gene deletion?
PubMed: Wu 1993
,
PubMed: Lu-Kuo 1993
-
-
De novo
-
-
-
-
-
DNA
FISH
lymphocytes, cell line
-
WS
-
PubMed: Kirkpatrick 1992
,
PubMed: Wu 1993
,
PubMed: Lu-Kuo 1993
-
M
-
-
-
-
-
-
-
2
Veronique Pingault
+/+
_1_8_
c.-381_*211{0}
r.0
p.0
Unknown
-
pathogenic
g.(?_223066432)_(223163715_?)del
-
del (2)(q35q36)
-
PAX3_000102
whole gene deletion?
PubMed: Pasteris 1993
-
-
De novo
-
-
-
-
-
DNA
FISH, Southern
Cell line
-
WS
-
PubMed: Pasteris 1993
-
F
-
-
-
-
-
-
-
1
Veronique Pingault
+/+
_1_8_
c.-381_*211{0}
r.0
p.0
Unknown
-
pathogenic
g.(?_223066432)_(223163715_?)del
-
del (2)(q33q35)
-
PAX3_000103
whole gene deletion?
PubMed: Pasteris 1993
-
-
Germline
-
-
-
-
-
DNA
FISH, Southern
Cell line
-
?
-
PubMed: Pasteris 1993
-
-
-
-
-
-
-
-
-
1
Veronique Pingault
+/+
_1_8_
c.-381_*211{0}
r.0
p.0
Unknown
-
pathogenic
g.(?_223066432)_(223163715_?)del
-
deletion 2q34-q36,2
-
PAX3_000104
whole gene deletion
PubMed: Tassabehji 1994
-
-
De novo
-
-
-
-
-
DNA
Southern
Flow-sorted chromosome
-
WS
-
PubMed: Tassabehji 1994
-
M
-
-
-
-
-
-
-
1
Veronique Pingault
+/+
_1_8_
c.-381_*211{0}
r.0
p.0
Unknown
-
pathogenic
g.(?_223066432)_(223163715_?)del
-
whole gene deletion
-
PAX3_000105
-
PubMed: Milunsky 2007
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
WS
-
PubMed: Milunsky 2007
-
-
-
-
-
-
-
-
-
1
Veronique Pingault
+/+
_1_8_
c.-381_*211{0}
r.0
p.0
Unknown
-
pathogenic
g.(?_223066432)_(223163715_?)del
-
whole gene deletion
-
PAX3_000106
-
PubMed: Milunsky 2007
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
WS
-
PubMed: Milunsky 2007
-
-
-
-
-
-
-
-
-
1
Veronique Pingault
+/+
_1_8_
c.-381_*211{0}
r.0
p.0
Unknown
-
pathogenic
g.(?_223066432)_(223163715_?)del
-
whole gene deletion
-
PAX3_000107
-
PubMed: Milunsky 2007
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
WS
-
PubMed: Milunsky 2007
-
-
-
-
-
-
-
-
-
1
Veronique Pingault
+/+
_1_8_
c.-381_*211{0}
r.0
p.0
Maternal (confirmed)
-
pathogenic
g.(?_223066432)_(223163715_?)del
-
-
-
PAX3_000111
whole gene deletion, 1.8-2.6 Mb
PubMed: Matsunaga 2013
-
-
Germline
-
-
-
-
-
DNA
MLPA, PCRq
-
-
WS
-
PubMed: Matsunaga 2013
-
F
-
Japan
-
-
-
-
-
1
Veronique Pingault
+/+
_1_8_
c.-381_*211{0}
r.0
p.0
Paternal (inferred)
-
pathogenic
g.(?_223066432)_(223163715_?)del
-
(?_-61)_(1452-33_?)
-
PAX3_000123
whole gene deletion
PubMed: Wildhardt 2013
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
WS
-
PubMed: Wildhardt 2013
-
M
-
-
-
-
-
-
-
1
Veronique Pingault
+/+
_1_8_
c.-381_*211{0}
r.0
p.0
Unknown
-
pathogenic
g.(?_223066432)_(223163715_?)del
-
(?_-61)_(1452-33_?)
-
PAX3_000126
whole gene deletion
PubMed: Wildhardt 2013
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
WS
-
PubMed: Wildhardt 2013
-
F
-
-
-
-
-
-
-
1
Veronique Pingault
+/+
1
c.1-?_?
r.0?
p.0?
Paternal (inferred)
-
pathogenic
g.?
-
Exon 1 deletion
-
PAX3_000108
4.07kb deletion including exon1 and promoter
PubMed: Milunsky 2007
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
WS
-
PubMed: Milunsky 2007
-
F
-
-
-
-
-
-
-
1
Veronique Pingault
+/.
-
c.52C>T
r,(?)
p.(Gln18Ter)
Parent #1
-
pathogenic (dominant)
g.223163283G>A
g.222298564G>A
-
-
PAX3_000201
combination of alleles not reported
PubMed: Wu 2019
-
-
Germline
-
1/1291 cases hearing loss
-
-
-
DNA
SEQ, SEQ-NG
-
213-gene panel
HL
-
PubMed: Wu 2019
analysis 1291 cases hearing loss
-
-
Taiwan
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.60C>G
r.(?)
p.(Tyr20Ter)
Unknown
-
pathogenic
g.223163275G>C
g.222298556G>C
-
-
PAX3_000170
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
1
c.64C>A
r.(?)
p.(Arg22Ser)
Parent #1
-
pathogenic
g.223163271G>T
g.222298552G>T
-
-
PAX3_000190
-
MORL Deafness Variation Database
,
PubMed: Ptok 2006
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
WS
-
PubMed: Ptok 2006
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/.
-
c.86-3C>G
r.spl?
p.?
Unknown
-
pathogenic
g.223161935G>C
g.222297216G>C
-
-
PAX3_000156
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
1i
c.86-2A>G
r.spl
p.?
Parent #1
-
pathogenic
g.223161934T>C
g.222297215T>C
86-2 A>G
-
PAX3_000001
-
PubMed: Attaie 1997
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
WS
-
PubMed: Attaie 1997
-
-
-
-
-
-
-
-
-
1
Veronique Pingault
+/+
1i
c.86-2A>T
r.spl
p.?
Unknown
-
pathogenic
g.223161934T>A
g.222297215T>A
86>2A>T
-
PAX3_000002
-
PubMed: Soejima 1997
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
WS
-
PubMed: Soejima 1997
-
-
-
-
-
-
-
-
-
1
Veronique Pingault
+/+
2
c.101dup
r.(?)
p.(Gln35Profs*79)
Parent #1
-
pathogenic
g.223161917dup
g.222297199dup
ins at codon 63 ; 1bpâ–¼34;FS113TER
-
PAX3_000003
-
PubMed: Morell 1993
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
WS
-
PubMed: Asher (990
,
PubMed: Morell 1993
-
-
-
-
-
-
-
-
-
1
Veronique Pingault
+/+
2
c.111dup
r.(?)
p.(Val38Argfs*76)
Unknown
-
pathogenic
g.223161907dup
g.222297188dup
111dupC
-
PAX3_000113
-
PubMed: Wildhardt 2013
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
WS
-
PubMed: Wildhardt 2013
-
M
-
-
-
-
-
-
-
1
Veronique Pingault
+?/+?
2
c.115A>T
r.(?)
p.(Asn39Tyr)
Parent #1
-
likely pathogenic
g.223161903T>A
g.222297184T>A
-
-
PAX3_000004
-
PubMed: Pingault 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
WS
-
PubMed: Pingault 2010
-
-
-
-
-
-
-
-
-
1
Veronique Pingault
+?/.
-
c.117C>G
r.(?)
p.(Asn39Lys)
Unknown
-
likely pathogenic
g.223161901G>C
g.222297182G>C
-
-
PAX3_000155
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.118C>T
r.(?)
p.(Gln40Ter)
Unknown
-
pathogenic
g.223161900G>A
g.222297181G>A
-
-
PAX3_000154
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.127G>A
r.(?)
p.(Gly43Ser)
Unknown
-
likely pathogenic
g.223161891C>T
g.222297172C>T
-
-
PAX3_000153
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.129T>C
r.(?)
p.(Gly43=)
Unknown
-
benign
g.223161889A>G
g.222297170A>G
PAX3(NM_181458.4):c.129T>C (p.G43=)
-
PAX3_000134
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.129T>C
r.(?)
p.(Gly43=)
Unknown
-
benign
g.223161889A>G
g.222297170A>G
PAX3(NM_181458.4):c.129T>C (p.G43=)
-
PAX3_000134
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
2
c.133T>C
r.(?)
p.(Phe45Leu)
Parent #1
-
pathogenic
g.223161885A>G
g.222297166A>G
-
-
PAX3_000005
-
MORL Deafness Variation Database
,
PubMed: Tassabehji 1994
,
PubMed: Fortin 1997
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
WS
-
PubMed: Tassabehji 1994
,
PubMed: Fortin 1997
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+?/+?
2
c.133T>C
r.(?)
p.(Phe45Leu)
Parent #1
-
likely pathogenic
g.223161885A>G
g.222297166A>G
F45L
-
PAX3_000005
-
PubMed: Tassabehji 1994
-
-
Germline
-
-
-
-
-
DNA
SSCA, HD, SEQ
-
-
WS
-
PubMed: Tassabehji 1994
-
-
-
-
-
-
-
-
-
1
Veronique Pingault
+/+
2
c.139A>C
r.(?)
p.(Asn47His)
Parent #1
-
pathogenic
g.223161879T>G
g.222297160T>G
-
-
PAX3_000006
-
MORL Deafness Variation Database
,
PubMed: Sheffer 1992
,
PubMed: Goodman 1982
,
PubMed: Hoth 1993
,
PubMed: Fortin 1997
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
WS
-
PubMed: Sheffer 1992
,
PubMed: Goodman 1982
,
PubMed: Hoth 1993
,
PubMed: Fortin 1997
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+?/+?
2
c.139A>C
r.(?)
p.(Asn47His)
Parent #1
-
likely pathogenic
g.223161879T>G
g.222297160T>G
352A>C; Asn>His at 47
-
PAX3_000006
-
PubMed: Hoth 1993
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
WS
-
PubMed: Sheffer 1992
,
PubMed: Hoth 1993
-
-
-
-
-
-
-
-
-
1
Veronique Pingault
+/+
2
c.141C>G
r.(?)
p.(Asn47Lys)
Parent #1
-
pathogenic
g.223161877G>C
g.222297158G>C
-
-
PAX3_000007
-
MORL Deafness Variation Database
,
PubMed: Sommer 1983
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
deafness
-
PubMed: Sommer 1983
,
PubMed: Asher JH Jr 1996
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+?/+?
2
c.141C>G
r.(?)
p.(Asn47Lys)
Parent #1
-
likely pathogenic
g.223161877G>C
g.222297158G>C
-
-
PAX3_000007
-
PubMed: Asher 1996
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
CDHS
-
PubMed: Asher 1996
-
-
-
-
-
-
-
-
-
1
Veronique Pingault
+?/+?
2
c.142G>C
r.(?)
p.(Gly48Arg)
Parent #1
-
likely pathogenic
g.223161876C>G
g.222297157C>G
Gly48>Arg
-
PAX3_000008
-
PubMed: Pandya 1996
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
WS
-
PubMed: Pandya 1996
-
-
-
United Kingdom (Great Britain);United States
Ireland; native American
-
-
-
-
1
Veronique Pingault
+/+
2
c.142G>T
r.(?)
p.(Gly48Cys)
Parent #1
-
pathogenic
g.223161876C>A
g.222297157C>A
-
-
PAX3_000189
-
MORL Deafness Variation Database
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
WS
-
-
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+?/+?
2
c.143G>A
r.(?)
p.(Gly48Asp)
Maternal (inferred)
-
likely pathogenic
g.223161875C>T
g.222297156C>T
-
-
PAX3_000114
-
PubMed: Wildhardt 2013
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
WS
-
PubMed: Wildhardt 2013
-
F
-
-
-
-
-
-
-
1
Veronique Pingault
+/+
2
c.145_148dup
r.(?)
p.(Pro50Glnfs*65)
Unknown
-
pathogenic
g.223161870_223161873dup
g.222297154_222297157dup
Ins146+4 (R49fsX160) dupGGCA
-
PAX3_000009
-
PubMed: Wollnik 2003
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
WS
-
PubMed: Wollnik 2003
-
-
-
Turkey
-
-
-
-
-
1
Veronique Pingault
+/+
2
c.149C>T
r.(?)
p.(Pro50Leu)
Parent #1
-
pathogenic
g.223161869G>A
g.222297150G>A
-
-
PAX3_000010
-
MORL Deafness Variation Database
,
PubMed: Baldwin 1992
,
PubMed: Milunsky 1993
,
PubMed: Alford 2014
,
PubMed: da-Silva 1991
,
PubMed: Fortin 1997
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
WS
-
PubMed: Baldwin 1992
,
PubMed: Milunsky 1993
,
PubMed: Alford 2014
,
PubMed: da-Silva 1991
,
PubMed: Fortin 1997
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+?/+?
2
c.149C>T
r.(?)
p.(Pro50Leu)
Parent #1
-
likely pathogenic
g.223161869G>A
g.222297150G>A
Pro (CCG) to Leu (CTG) in exon 2
-
PAX3_000010
-
PubMed: Baldwin 1992
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
WS
-
PubMed: [Da-Silva (1991)]
-
-
-
Brazil
-
-
-
-
-
1
Veronique Pingault
-/.
-
c.156C>G
r.(?)
p.(Pro52=)
Unknown
-
benign
g.223161862G>C
g.222297143G>C
-
-
PAX3_000151
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
2
c.164T>A
r.(?)
p.(Ile55Asn)
Parent #1
-
pathogenic
g.223161854A>T
g.222297135A>T
-
-
PAX3_000188
-
MORL Deafness Variation Database
,
PubMed: Ptok 2006
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
WS
-
PubMed: Ptok 2006
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/.
-
c.166C>T
r.(?)
p.(Arg56Cys)
Maternal (confirmed)
ACMG
pathogenic
g.223161852G>A
-
-
-
PAX3_000191
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
WS1, WS4A
-
-
-
-
-
-
-
-
-
-
-
1
Anju Shukla
?/.
-
c.166C>T
r.(?)
p.(Arg56Cys)
Unknown
-
VUS
g.223161852G>A
-
-
-
PAX3_000191
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/+?
2
c.167G>A
r.(?)
p.(Arg56His)
Unknown
-
likely pathogenic
g.223161851C>T
g.222297132C>T
-
-
PAX3_000012
-
PubMed: Pingault 2010
-
-
De novo
-
-
-
-
-
DNA
SEQ
-
-
WS
-
PubMed: Pingault 2010
-
M
-
-
-
-
-
-
-
1
Veronique Pingault
+/+
2
c.167G>T
r.(?)
p.(Arg56Leu)
Parent #1
-
pathogenic
g.223161851C>A
g.222297132C>A
-
-
PAX3_000011
-
MORL Deafness Variation Database
,
PubMed: Carezani-Gavin 1992
,
PubMed: Milunsky 1993
,
PubMed: Alford 2014
,
PubMed: Fortin 1997
,
PubMed: Armoni 2002
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
WS
-
PubMed: Carezani-Gavin 1992
,
PubMed: Hoth 1993
,
PubMed: Milunsky 1993
,
PubMed: Alford 2014
,
PubMed: Fortin 1997
,
PubMed: Armoni 2002
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+?/+?
2
c.167G>T
r.(?)
p.(Arg56Leu)
Parent #1
-
likely pathogenic
g.223161851C>A
g.222297132C>A
380G>T; Arg>Leu at 56
-
PAX3_000011
-
PubMed: Hoth 1993
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
WS
-
PubMed: Carezani-Gavin 1992
,
PubMed: Hoth 1993
-
-
-
-
-
-
-
-
-
1
Veronique Pingault
+/+
2
c.169del
r.(?)
p.(His57Thrfs*53)
Parent #1
-
pathogenic
g.223161849del
g.222297131del
1bp del of (C)169
-
PAX3_000013
-
PubMed: Pandya 1996
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
WS
-
PubMed: Pandya 1996
-
-
-
France
-
-
-
-
-
1
Veronique Pingault
+?/+?
2
c.175A>T
r.(?)
p.(Ile59Phe)
Parent #1
-
likely pathogenic
g.223161843T>A
g.222297124T>A
A to T, Ile to Phe at 59
-
PAX3_000014
-
PubMed: Soejima 1997
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
WS
-
PubMed: Soejima 1997
-
-
-
-
-
-
-
-
-
1
Veronique Pingault
+?/+?
2
c.175A>T
r.(?)
p.(Ile59Phe)
Maternal (confirmed)
-
likely pathogenic
g.223161843T>A
g.222297124T>A
-
-
PAX3_000014
-
PubMed: Matsunaga 2013
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
WS
-
PubMed: Matsunaga 2013
-
M
-
Japan
-
-
-
-
-
1
Veronique Pingault
+/+
2
c.176T>A
r.(?)
p.(Ile59Asn)
Parent #1
-
pathogenic
g.223161842A>T
g.222297123A>T
-
-
PAX3_000094
-
MORL Deafness Variation Database
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
WS
-
-
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+?/+?
2
c.176T>A
r.(?)
p.(Ile59Asn)
Unknown
-
likely pathogenic
g.223161842A>T
g.222297123A>T
t176t->A, I59N
-
PAX3_000094
-
Markova 1998 Human Mutation, Mutation and polymorphism report#34 online
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
WS
-
Markova 1998 Human Mutation, Mutation and polymorphism report#34 online
-
-
-
Russia
-
-
-
-
-
1
Veronique Pingault
+?/+?
2
c.178G>A
r.(?)
p.(Val60Met)
Unknown
-
likely pathogenic
g.223161840C>T
g.222297121C>T
V60M
-
PAX3_000015
-
PubMed: Baldwin 1995
-
-
Germline
-
-
-
-
-
DNA
CSGE, SEQ
-
-
WS
-
PubMed: Baldwin 1995
-
-
-
-
-
-
-
-
-
1
Veronique Pingault
+?/+?
2
c.178G>A
r.(?)
p.(Val60Met)
Unknown
-
likely pathogenic
g.223161840C>T
g.222297121C>T
G178A (V60M)
-
PAX3_000015
-
PubMed: Wollnik 2003
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
WS
-
PubMed: Wollnik 2003
-
-
-
Turkey
-
-
-
-
-
1
Veronique Pingault
+?/.
-
c.184A>G
r.(?)
p.(Met62Val)
Unknown
-
likely pathogenic
g.223161834T>C
g.222297115T>C
PAX3(NM_181458.3):c.184A>G (p.M62V)
-
PAX3_000017
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
2
c.184A>G
r.(?)
p.(Met62Val)
Parent #1
-
pathogenic
g.223161834T>C
g.222297115T>C
-
-
PAX3_000017
-
MORL Deafness Variation Database
,
PubMed: Pierpont 1994
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
WS
-
PubMed: Pierpont 1994
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+?/+?
2
c.184A>G
r.(?)
p.(Met62Val)
Parent #1
-
likely pathogenic
g.223161834T>C
g.222297115T>C
M62V
-
PAX3_000017
-
PubMed: Hol 1998
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
WS
-
PubMed: Hol 1998
-
-
-
-
-
-
-
-
-
1
Veronique Pingault
+?/+
2
c.185_202del
r.(?)
p.(Met62_Ile67del)
Parent #1
-
likely pathogenic
g.223161816_223161833del
g.222297097_222297114del
185_202del18
-
PAX3_000018
-
PubMed: Tassabehji 1992
-
-
Germline
-
-
-
-
-
DNA
HD, SEQ
-
-
WS
-
PubMed: Foy 1990
,
PubMed: Tassabehji 1992
-
-
-
-
-
-
-
-
-
1
Veronique Pingault
+?/+?
2
c.186G>A
r.(?)
p.(Met62Ile)
Paternal (inferred)
-
likely pathogenic
g.223161832C>T
g.222297113C>T
-
-
PAX3_000115
-
PubMed: Wildhardt 2013
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
WS
-
PubMed: Wildhardt 2013
-
F
-
-
-
-
-
-
-
1
Veronique Pingault
+/+
2
c.191_207del
r.(?)
p.(His64Leufs*44)
Unknown
-
pathogenic
g.223161811_223161827del
g.222297097_222297113del
nt 191del(17)
-
PAX3_000019
-
PubMed: Tassabehji 1995
-
-
Germline
-
-
-
-
-
DNA
SSCA, HD, SEQ
-
-
WS
-
PubMed: Tassabehji 1995
-
-
-
-
-
-
-
-
-
1
Veronique Pingault
+?/+?
2
c.202C>G
r.(?)
p.(Arg68Gly)
Parent #1
-
likely pathogenic
g.223161816G>C
g.222297097G>C
-
-
PAX3_000020
-
PubMed: Pingault 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
WS
-
PubMed: Pingault 2010
-
-
-
-
-
-
-
-
-
1
Veronique Pingault
+?/.
-
c.214A>G
r.(?)
p.(Ile72Val)
Unknown
ACMG
VUS
g.223161804T>C
-
-
-
PAX3_000196
-
-
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ-NG-I
Blood
-
WS1
S-4
-
-
M
?
China
Chinese
-
-
-
-
1
Jian Song
+/.
-
c.218C>T
r.(?)
p.(Ser73Leu)
Unknown
-
pathogenic
g.223161800G>A
g.222297081G>A
-
-
PAX3_000021
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/+?
2
c.218C>T
r.(?)
p.(Ser73Leu)
Parent #1
-
likely pathogenic
g.223161800G>A
g.222297081G>A
S73L
-
PAX3_000021
-
PubMed: Sotirova 2000
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
WS
-
PubMed: Sotirova 2000
-
-
-
Iran
-
-
-
-
-
1
Veronique Pingault
-?/.
-
c.219G>A
r.(?)
p.(Ser73=)
Unknown
-
likely benign
g.223161799C>T
g.222297080C>T
PAX3(NM_181458.3):c.219G>A (p.S73=)
-
PAX3_000133
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.220C>T
r.(?)
p.(Arg74Cys)
Unknown
-
pathogenic
g.223161798G>A
g.222297079G>A
-
-
PAX3_000175
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
2
c.223C>T
r.(?)
p.(Gln75*)
Parent #1
-
pathogenic
g.223161795G>A
g.222297076G>A
Gln75>Term
-
PAX3_000022
-
PubMed: Pandya 1996
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
WS
-
PubMed: Pandya 1996
-
-
-
Italy
-
-
-
-
-
1
Veronique Pingault
+?/+?
2
c.232G>A
r.(?)
p.(Val78Met)
Unknown
-
likely pathogenic
g.223161786C>T
g.222297067C>T
V78M
-
PAX3_000023
-
PubMed: Tassabehji 1995
-
-
Germline
-
-
-
-
-
DNA
SSCA, HD, SEQ
-
-
WS
-
PubMed: Tassabehji 1995
-
-
-
-
-
-
-
-
-
1
Veronique Pingault
+/+
2
c.238C>G
r.(?)
p.(His80Asp)
Parent #1
-
pathogenic
g.223161780G>C
g.222297061G>C
-
-
PAX3_000096
-
MORL Deafness Variation Database
,
PubMed: Alford 2014
,
PubMed: Milunsky 1993
,
PubMed: Zhang 2012
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
WS
-
PubMed: Alford 2014
,
PubMed: Milunsky 1993
,
PubMed: Chen 2010
,
PubMed: Zhang 2012
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/+?
2
c.238C>G
r.(?)
p.(His80Asp)
Unknown
-
pathogenic
g.223161780G>C
g.222297061G>C
-
-
PAX3_000096
inherited from an unaffected father
PubMed: Chen 2010
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
WS
-
PubMed: Chen 2010
-
-
-
China
-
-
-
-
-
1
Veronique Pingault
+?/+?
2
c.241G>C
r.(?)
p.(Gly81Arg)
Unknown
-
likely pathogenic
g.223161777C>G
g.222297058C>G
-
-
PAX3_000024
-
PubMed: Pingault 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
WS
-
PubMed: Pingault 2010
-
-
-
-
-
-
-
-
-
1
Veronique Pingault
?/?
2
c.241G>T
r.(?)
p.(Gly81Cys)
Parent #1
-
VUS
g.223161777C>A
g.222297058C>A
-
-
PAX3_000187
-
MORL Deafness Variation Database
,
PubMed: Milunsky 1993
,
PubMed: Alford 2014
,
PubMed: Tang 2015
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
WS
-
PubMed: Milunsky 1993
,
PubMed: Alford 2014
,
PubMed: Tang 2015
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/+
2
c.242G>C
r.(?)
p.(Gly81Ala)
Parent #1
-
pathogenic
g.223161776C>G
g.222297057C>G
-
-
PAX3_000025
-
MORL Deafness Variation Database
,
PubMed: Tassabehji 1995
,
PubMed: Alford 2014
,
PubMed: Hoth 1993
,
PubMed: Milunsky 1993
,
PubMed: Reynolds 1995
,
PubMed: Fortin 1997
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
WS
-
PubMed: Tassabehji 1995
,
PubMed: Alford 2014
,
PubMed: Hoth 1993
,
PubMed: Milunsky 1993
,
PubMed: Reynolds 1995
,
PubMed: Tassabehji 1993
,
PubMed: Fortin 1997
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+?/+?
2
c.242G>C
r.(?)
p.(Gly81Ala)
Parent #1
-
likely pathogenic
g.223161776C>G
g.222297057C>G
Gly to Ala in exon 2
-
PAX3_000025
-
PubMed: Tassabehji 1993
-
-
Germline
-
-
-
-
-
DNA
HD, SEQ
-
-
WS
-
PubMed: Tassabehji 1993
Initialy reported as WS2
-
-
-
-
-
-
-
-
1
Veronique Pingault
+?/.
-
c.242G>T
r.(?)
p.(Gly81Val)
Unknown
-
likely pathogenic
g.223161776C>A
g.222297057C>A
-
-
PAX3_000168
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
2
c.251C>T
r.(?)
p.(Ser84Phe)
Parent #1
-
pathogenic
g.223161767G>A
g.222297048G>A
-
-
PAX3_000026
-
MORL Deafness Variation Database
,
PubMed: Milunsky 1993
,
PubMed: Zlotogora 1995
,
PubMed: Alford 2014
,
PubMed: Fortin 1997
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
WS
-
PubMed: Milunsky 1993
,
PubMed: Zlotogora 1995
,
PubMed: Alford 2014
,
PubMed: Fortin 1997
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+?/+?
2
c.251C>T
r.(?)
p.(Ser84Phe)
Parent #1
-
likely pathogenic
g.223161767G>A
g.222297048G>A
S84F
-
PAX3_000026
-
PubMed: Zlotogora 1995
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
WS
-
PubMed: Zlotogora 1995
-
-
yes
Palestine
-
-
-
-
-
1
Veronique Pingault
+?/+?
2
c.251C>T
r.(?)
p.(Ser84Phe)
Unknown
-
likely pathogenic
g.223161767G>A
g.222297048G>A
S84F
-
PAX3_000026
-
PubMed: Zlotogora 1995
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
WS
-
PubMed: Zlotogora 1995
-
M
yes
Palestine
-
-
-
-
-
1
Veronique Pingault
+?/+?
2
c.253A>G
r.(?)
p.(Lys85Glu)
Parent #1
-
likely pathogenic
g.223161765T>C
g.222297046T>C
K85E
-
PAX3_000027
-
PubMed: Baldwin 1995
-
-
Germline
-
-
-
-
-
DNA
CSGE, SEQ
-
-
WS
-
PubMed: Baldwin 1995
-
-
-
-
-
-
-
-
-
1
Veronique Pingault
+/+
2
c.260del
r.(?)
p.(Leu87Argfs*23)
Unknown
-
pathogenic
g.223161758del
g.222297039del
260delT
-
PAX3_000092
-
PubMed: Pingault 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
WS
-
PubMed: Pingault 2010
-
F
-
-
-
-
-
-
-
1
Veronique Pingault
+/+
2
c.266_279del
r.(?)
p.(Tyr90Leufs*19)
Parent #1
-
pathogenic
g.223161739_223161752del
g.222297020_222297033del
14 bp deletion in the paired domain
-
PAX3_000028
-
PubMed: Morell 1992
-
-
Germline
-
-
-
-
-
DNA
HD, Southern, SEQ
-
-
WS
-
PubMed: Morell 1992
-
-
-
Indonesia
-
-
-
-
-
1
Veronique Pingault
+?/.
-
c.267G>T
r.(?)
p.(Arg89Ser)
Unknown
-
likely pathogenic
g.223161751C>A
g.222297032C>A
-
-
PAX3_000202
-
-
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
WS
-
-
-
-
-
-
-
-
-
-
-
1
Gemeinschaftspraxis für Humangenetik Dresden
+?/+?
2
c.268T>C
r.(?)
p.(Tyr90His)
Parent #1
-
likely pathogenic
g.223161750A>G
g.222297031A>G
T268C (Y90H)
-
PAX3_000029
-
PubMed: Wollnik 2003
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
WS
-
PubMed: Wollnik 2003
-
-
yes
Turkey
-
-
-
-
-
1
Veronique Pingault
+?/+?
2
c.268T>C
r.(?)
p.(Tyr90His)
Unknown
-
likely pathogenic
g.223161750A>G
g.222297031A>G
T268C (Y90H)
-
PAX3_000029
-
PubMed: Wollnik 2003
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
WS
-
PubMed: Wollnik 2003
-
F
yes
Turkey
-
-
-
-
-
1
Veronique Pingault
+/+
2
c.268_281del
r.(?)
p.(Tyr90Leufs*19)
Parent #1
-
pathogenic
g.223161739_223161752del
g.222297020_222297033del
-
-
PAX3_000028
-
MORL Deafness Variation Database
,
PubMed: Morell 1992
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
WS
-
PubMed: Morell 1992
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
?/.
-
c.281G>T
r.(?)
p.(Gly94Val)
Unknown
-
VUS
g.223161737C>A
g.222297018C>A
-
-
PAX3_000160
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.281G>T
r.(?)
p.(Gly94Val)
Maternal (confirmed)
ACMG
likely pathogenic (dominant)
g.223161737C>A
-
-
-
PAX3_000160
-
PubMed: Batissoco 2021
ClinVar-SCV001792232
-
Germline
yes
-
-
-
-
DNA
SEQ
Blood
-
WS1
ORO166
PubMed: Batissoco 2021
-
M
no
Brazil
Brazilian admixed
>10y
-
-
-
3
Karina Lezirovitz Mandelbaum
+?/.
-
c.281G>T
r.(?)
p.(Gly94Val)
Paternal (inferred)
ACMG
likely pathogenic (dominant)
g.223161737C>A
-
-
-
PAX3_000160
-
PubMed: Batissoco 2021
ClinVar-SCV001792232
-
Germline
yes
-
-
-
-
DNA
SEQ
Blood
-
WS1
ORO166M
PubMed: Batissoco 2021
mother of 0000378132
F
no
Brazil
Brazilian admixed
-
-
-
-
1
Karina Lezirovitz Mandelbaum
+?/.
-
c.281G>T
r.(?)
p.(Gly94Val)
Paternal (inferred)
ACMG
likely pathogenic (dominant)
g.223161737C>A
-
-
-
PAX3_000160
-
PubMed: Batissoco 2021
-
-
Germline
yes
-
-
-
-
DNA
SEQ
Blood
-
WS1
ORO166T
PubMed: Batissoco 2021
maternal uncle of ORO166
M
no
Brazil
Brazilian admixed
-
-
-
-
1
Karina Lezirovitz Mandelbaum
+?/+?
2
c.284_289dup
r.(?)
p.(Ile96_Arg97insProIle)
Unknown
-
likely pathogenic
g.223161729_223161734dup
g.222297010_222297015dup
duplication of 6bp (ccatc) at codon 96
-
PAX3_000095
-
PubMed: Kohli 2010
-
-
Germline
-
-
-
-
-
DNA
?
-
-
WS
-
PubMed: Kohli 2010
-
-
-
-
-
-
-
-
-
1
Veronique Pingault
+/+
2
c.288del
r.(?)
p.(Arg97Valfs*13)
Parent #1
-
pathogenic
g.223161730del
g.222297011del
288delA
-
PAX3_000030
-
PubMed: Tassabehji 1993
-
-
Germline
-
-
-
-
-
DNA
HD, SEQ
-
-
WS
-
PubMed: Foy 1990
,
PubMed: Tassabehji 1993
-
-
-
-
-
-
-
-
-
1
Veronique Pingault
+/+
2
c.291dup
r.(?)
p.(Pro98Serfs*16)
Parent #1
-
pathogenic
g.223161727dup
g.222297008dup
Insertion (T) in position 292
-
PAX3_000031
-
PubMed: Wildhardt 1996
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
WS
-
PubMed: Wildhardt 1996
-
-
-
-
-
-
-
-
-
1
Veronique Pingault
+/+
2
c.295G>A
r.(?)
p.(Gly99Ser)
Parent #1
-
pathogenic
g.223161723C>T
g.222297004C>T
-
-
PAX3_000032
-
MORL Deafness Variation Database
,
PubMed: Pingault 2010
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
WS
-
PubMed: Pingault 2010
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+?/+?
2
c.295G>A
r.(?)
p.(Gly99Ser)
Parent #1
-
likely pathogenic
g.223161723C>T
g.222297004C>T
[Gly99Ser]+[Arg270Cys]
-
PAX3_000032
-
Bottani 1999 Am J Hum Genet 65:A143
-
-
Germline
-
-
-
-
-
DNA
?
-
-
WS
-
Bottani 1999 Am J Hum Genet 65:A143, Klein 1947
-
F
-
-
-
-
-
-
-
1
Veronique Pingault
+/+
2
c.296G>A
r.(?)
p.(Gly99Asp)
Parent #1
-
pathogenic
g.223161722C>T
g.222297003C>T
-
-
PAX3_000033
-
MORL Deafness Variation Database
,
PubMed: Fortin 1997
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
WS
-
PubMed: Tassabehji 1994
,
PubMed: Fortin 1997
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+?/+?
2
c.296G>A
r.(?)
p.(Gly99Asp)
Parent #1
-
likely pathogenic
g.223161722C>T
g.222297003C>T
G99D
-
PAX3_000033
-
PubMed: Tassabehji 1994
-
-
Germline
-
-
-
-
-
DNA
SSCA, HD, SEQ
-
-
WS
-
PubMed: Tassabehji 1994
-
-
-
-
-
-
-
-
-
1
Veronique Pingault
+/+
2
c.297_321+3del
r.spl
p.?
Parent #1
-
pathogenic
g.223161694_223161721del
-
297_321+3del28
-
PAX3_000034
-
PubMed: Baldwin 1994
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
WS
-
PubMed: Baldwin 1994
-
-
-
-
-
-
-
-
-
1
Veronique Pingault
?/.
-
c.301A>G
r.(?)
p.(Ile101Val)
Unknown
-
VUS
g.223161717T>C
-
PAX3(NM_181458.4):c.301A>G (p.(Ile101Val))
-
CCDC140_000016
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.306del
r.(?)
p.(Gly103Alafs*7)
Unknown
-
pathogenic
g.223161712del
-
-
-
CCDC140_000004
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.321+3G>A
r.spl?
p.?
Unknown
-
likely benign
g.223161694C>T
-
PAX3(NM_181458.4):c.321+3G>A
-
CCDC140_000017
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
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