Global Variome shared LOVD
PRPF3 (PRP3 pre-mRNA processing factor 3 homolog ...))
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Curator:
Global Variome, with Curator vacancy
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This database is one of the
"Eye disease"
gene variant databases.
The variants shown are described using the NM_004698.2 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
conflicting
association
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arrayMET = array for methylation analysis
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = single molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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121 entries on 2 pages. Showing entries 1 - 100.
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Effect
Exon
DNA change (cDNA)
RNA change
Protein
Allele
Classification method
Clinical classification
DNA change (genomic) (hg19)
DNA change (hg38)
Published as
ISCN
DB-ID
Variant remarks
Reference
ClinVar ID
dbSNP ID
Origin
Segregation
Frequency
Re-site
VIP
Methylation
Template
Technique
Tissue
Remarks
Disease
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Panel size
Owner
+?/.
-
c.-49+2T>C
r.spl
p.(?)
Unknown
ACMG
likely pathogenic
g.150294043T>C
g.150321594T>C
PRPF3 c.[-49+2T>C];[-49+2=], V1: c.-49+2T>C,
-
PRPF3_000050
heterozygous
PubMed: Chen 2021
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
212 inherited retinal disease-related genes
retinal disease
F257
PubMed: Chen 2021
-
?
-
Taiwan
-
-
-
-
-
1
LOVD
+?/.
-
c.-49+2T>C
r.spl
p.(?)
Unknown
ACMG
likely pathogenic
g.150294043T>C
g.150321594T>C
PRPF3 c.[-49+2T>C];[-49+2=], V1: c.-49+2T>C,
-
PRPF3_000050
heterozygous
PubMed: Chen 2021
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
212 inherited retinal disease-related genes
retinal disease
F169
PubMed: Chen 2021
-
?
-
Taiwan
-
-
-
-
-
1
LOVD
+?/.
-
c.-49+2T>C
r.spl
p.?
Parent #1
-
likely pathogenic
g.150294043T>C
g.150321594T>C
PRPF3 c.[-49+2T>C];[-49+2=]; p.?
-
PRPF3_000050
heterozygous
PubMed: Chen 2021
-
-
Germline
yes
Taiwan Biobank: 0; GnomAD_exome_East: 0.000643 (genome); GnomAD_All: 0.000032
-
-
-
DNA
SEQ-NG
-
targeted 212 IRD-related genes
retinal disease
F169
PubMed: Chen 2021
-
-
-
Taiwan
-
-
-
-
-
1
LOVD
+?/.
-
c.-49+2T>C
r.spl
p.?
Parent #1
-
likely pathogenic
g.150294043T>C
g.150321594T>C
PRPF3 c.[-49+2T>C];[-49+2=]; p.?
-
PRPF3_000050
heterozygous
PubMed: Chen 2021
-
-
Germline
yes
Taiwan Biobank: 0; GnomAD_exome_East: 0.000643 (genome); GnomAD_All: 0.000032
-
-
-
DNA
SEQ-NG
-
targeted 212 IRD-related genes
retinal disease
F257
PubMed: Chen 2021
-
-
-
Taiwan
-
-
-
-
-
1
LOVD
-/.
-
c.-48-5_-48-3del
r.spl?
p.?
Unknown
-
benign
g.150297348_150297350del
g.150324890_150324892del
PRPF3(NM_004698.4):c.-48-5_-48-3delTTT
-
PRPF3_000009
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.-48-4_-48-3del
r.spl?
p.?
Unknown
-
benign
g.150297349_150297350del
g.150324891_150324892del
PRPF3(NM_004698.4):c.-48-4_-48-3delTT
-
PRPF3_000008
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.-48-3del
r.spl?
p.?
Unknown
-
benign
g.150297350del
g.150324892del
PRPF3(NM_004698.4):c.-48-3delT
-
PRPF3_000011
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-48-2del
r.spl?
p.?
Unknown
-
likely benign
g.150297351del
g.150324893del
PRPF3(NM_004698.3):c.-48-2delA
-
PRPF3_000014
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
1i
c.-48-2dup
r.spl?
p.(?)
Unknown
-
likely pathogenic
g.150297351dup
-
c.-48-2dup
-
PRPF3_000059
-
PubMed: Panneman 2023
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
RP-LCA smMIPs sequencing
RP
-
PubMed: Panneman 2023
-
M
-
-
-
-
-
-
-
1
Daan Panneman
?/.
11
c.?
r.(?)
p.?
Unknown
-
NA
g.150316677A>C
-
c.1466A>C,Ala489Asp
-
PRPF3_000040
-
PubMed: Gamundi 2008
-
-
In vitro (cloned)
-
-
-
-
-
DNA
PE
blood
-
retinal disease
-
PubMed: Avila Fernandez 2010
-
-
-
-
Spanish
-
-
-
-
1
LOVD
-?/.
-
c.?
r.(?)
p.?
Unknown
-
likely benign (dominant)
g.?
-
g.150325383A>G
-
PRPF3_000040
-
PubMed: Anasagasti-2013
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Anasagasti-2013
-
-
-
Spain
-
-
-
-
-
1
LOVD
-?/.
-
c.?
r.(?)
p.?
Unknown
-
likely benign (dominant)
g.?
-
g.150325383A>G
-
PRPF3_000040
-
PubMed: Anasagasti-2013
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Anasagasti-2013
-
-
-
Spain
-
-
-
-
-
1
LOVD
-?/.
-
c.?
r.(?)
p.?
Unknown
-
likely benign (dominant)
g.?
-
g.150325252->T
-
PRPF3_000040
-
PubMed: Anasagasti-2013
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Anasagasti-2013
-
-
-
Spain
-
-
-
-
-
1
LOVD
+?/.
4
c.?
r.(?)
p.?
Unknown
-
likely pathogenic
g.?
-
HPRP3: Thr494Met
-
NPHS2_000000
-
PubMed: Wada 2005
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
001-005
PubMed: Wada 2005
-
M
-
United States
American
-
-
-
-
1
LOVD
?/.
-
c.86C>T
r.(?)
p.(Thr29Met)
Unknown
-
VUS
g.150297486C>T
g.150325028C>T
-
-
PRPF3_000018
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.146-18C>T
r.(=)
p.(=)
Unknown
-
VUS
g.150298191C>T
g.150325733C>T
PRPF3(NM_001350529.1):c.-356-18C>T
-
PRPF3_000031
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.673G>A
r.(?)
p.(Gly225Ser)
Unknown
-
VUS
g.150305615G>A
-
-
-
PRPF3_000061
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.729-3C>T
r.spl?
p.?
Unknown
-
VUS
g.150307403C>T
g.150334932C>T
-
-
PRPF3_000039
-
PubMed: Wang 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG, PCR, SEQ
-
-
retinal disease
32
PubMed: Wang 2014
-
F
?
United States
-
-
-
-
-
1
Muhammad Ajmal
-?/.
-
c.780G>A
r.(?)
p.(Glu260=)
Unknown
-
likely benign
g.150307457G>A
g.150334986G>A
PRPF3(NM_001350529.1):c.375G>A (p.E125=)
-
PRPF3_000025
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.830G>A
r.(?)
p.(Arg277His)
Unknown
ACMG
VUS
g.150307507G>A
g.150335036G>A
PRPF3:NM_004698 c.G830A, p.R277H
-
PRPF3_000046
heterozygous, individual solved, variant non-causal
PubMed: Rodriguez-Munoz 2020
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
-
retinal disease
RPN-106
PubMed: Rodriguez-Munoz 2020
family fRPN-39, proband
M
-
Spain
-
-
-
-
-
1
LOVD
-?/.
-
c.957T>C
r.(?)
p.(Pro319=)
Unknown
-
likely benign
g.150307634T>C
g.150335163T>C
PRPF3(NM_001350529.1):c.552T>C (p.P184=)
-
PRPF3_000032
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.976A>G
r.(?)
p.(Thr326Ala)
Unknown
-
likely pathogenic
g.150307653A>G
g.150335182A>G
c.976A>G , p.(Thr326Ala)
-
PRPF3_000044
heterozygous
PubMed: Wang 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
panel of 126 genes
retinal disease
13683
PubMed: Wang 2019
-
M
-
China
-
-
-
-
-
1
LOVD
+?/.
-
c.1007A>G
r.(?)
p.(Glu336Gly)
Unknown
-
likely pathogenic
g.150307684A>G
g.150335213A>G
PRPF3 c.1007A>G, p.E336G
-
PRPF3_000047
heterozygous
PubMed: Jauregui 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
targeted sequencing
retinal disease
6
PubMed: Jauregui 2020
-
M
-
(United States)
white
-
-
-
-
1
LOVD
-?/.
-
c.1024T>C
r.(?)
p.(Leu342=)
Unknown
-
likely benign
g.150307701T>C
g.150335230T>C
PRPF3(NM_004698.3):c.1024T>C (p.L342=)
-
PRPF3_000026
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.1101G>A
r.(?)
p.(Ser367=)
Unknown
-
benign
g.150310701G>A
g.150338225G>A
PRPF3(NM_004698.4):c.1101G>A (p.S367=)
-
PRPF3_000027
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.1112C>T
r.(?)
p.(Ala371Val)
Unknown
-
VUS
g.150310712C>T
g.150338236C>T
PRPF3(NM_004698.3):c.1112C>T (p.A371V)
-
PRPF3_000015
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.1195T>A
r.(?)
p.(Phe399Ile)
Unknown
-
VUS
g.150310795T>A
g.150338319T>A
PRPF3(NM_004698.3):c.1195T>A (p.F399I)
-
PRPF3_000029
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.1283-60_1283-57del
r.spl
p.?
Parent #1
-
pathogenic
g.150315739_150315742del
g.150343263_150343266del
1283-60_1283-57delATAT
-
PRPF3_000036
-
PubMed: Bravo-Gil 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
64-gene panel
retinal disease
264
PubMed: Bravo-Gil 2016
see paper
-
-
Spain
-
-
-
-
-
1
LOVD
+/.
-
c.1283-2A>G
r.spl?
p.?
Unknown
-
pathogenic
g.150315783A>G
g.150343307A>G
-
-
PRPF3_000021
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
-
Germline
-
1/1203 cases with retinitis pigmentosa
-
-
-
DNA
SEQ-NG
-
-
retinal disease
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1203 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
1
Yoshito Koyanagi
+?/.
-
c.1283-2A>G
r.spl
p.(?)
Parent #1
-
likely pathogenic
g.150315783A>G
g.150343307A>G
PRPF3, variant 1: c.1283-2A>G/p.?
-
PRPF3_000021
solved, heterozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
RET9 targeted sequencing panel - see paper
retinal disease
1257
PubMed: Weisschuh 2020
Filing key number: 1049, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given
F
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.1285G>T
r.(?)
p.(Asp429Tyr)
Unknown
-
likely pathogenic
g.150315787G>T
g.150343311G>T
PRPF3;NM_004698.2;c.[1285G>T];[1285=];p.[(Asp429Tyr)];[(Asp429=)]
-
PRPF3_000045
heterozygous
PubMed: Jiman 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I
-
105 genes panel
retinal disease
67
PubMed: Jiman 2020
-
M
-
(United Kingdom (Great Britain))
-
-
-
-
-
1
LOVD
?/.
-
c.1334A>G
r.(?)
p.(Gln445Arg)
Unknown
ACMG
VUS
g.150315836A>G
g.150343360A>G
-
-
PRPF3_000062
ACMG PM2, PP2
PubMed: Weisschuh 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
USHII-341
PubMed: Weisschuh 2024
patient, no family history
F
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/.
10
c.1345C>G
r.(?)
p.(Arg449Gly)
Parent #1
-
pathogenic
g.150315847C>G
-
c.1345C > G (p.R449G)
-
PRPF3_000055
0/200 unrelated ethnically matched healthy controls
PubMed: Zhong 2016
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
retinal disease
Family 020001
PubMed: Zhong 2016
-
-
-
China
Chinese
-
-
-
-
7
LOVD
?/.
-
c.1407G>A
r.(?)
p.(Met469Ile)
Unknown
-
VUS
g.150315909G>A
g.150343433G>A
-
-
PRPF3_000022
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
rs587594838
Germline
-
1/1203 cases with retinitis pigmentosa
-
-
-
DNA
SEQ-NG
-
-
retinal disease
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1203 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
1
Yoshito Koyanagi
?/.
-
c.1409C>T
r.(?)
p.(Pro470Leu)
Unknown
ACMG
VUS
g.150315911C>T
g.150343435C>T
-
-
PRPF3_000063
ACMG PP3, PM2, PP2
PubMed: Weisschuh 2024
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
SRP-1300
PubMed: Weisschuh 2024
patient, no family history
M
-
Germany
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.1426G>A
r.(?)
p.(Val476Met)
Unknown
-
VUS
g.150315928G>A
g.150343452G>A
PRPF3 c.1426G>A, p.Val476Met
-
PRPF3_000048
heterozygous
PubMed: Zampaglione 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I, SEQ
blood
-
retinal disease
OGI2918_004503
PubMed: Zampaglione 2020
-
?
-
-
-
-
-
-
-
1
LOVD
+?/.
10i
c.1426+1G>A
r.spl
p.?
Unknown
ACMG
likely pathogenic
g.150315929G>A
g.150343453G>A
PRPF3 c.1426 + 1G > A, p.?
-
PRPF3_000052
heterozygous
PubMed: Wang 2022
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG, SEQ
blood
exome sequencing
retinal disease
9982_I:2
PubMed: Wang 2022
family 9982, individual I:2; 2-generation family, 2 affected
F
-
China
Chinese
-
-
-
-
1
LOVD
+?/.
10i
c.1426+1G>A
r.spl
p.?
Maternal (confirmed)
ACMG
likely pathogenic
g.150315929G>A
g.150343453G>A
PRPF3 c.1426 + 1G > A, p.?
-
PRPF3_000052
heterozygous
PubMed: Wang 2022
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
blood
exome sequencing
retinal disease
9982_II:1
PubMed: Wang 2022
family 9982, individual II:1; 2-generation family, 2 affected
F
-
China
Chinese
-
-
-
-
1
LOVD
-?/.
-
c.1427-18G>T
r.(=)
p.(=)
Unknown
-
likely benign
g.150316620G>T
-
PRPF3(NM_001350529.1):c.1022-18G>T
-
PRPF3_000051
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
11
c.1435T>A
r.(?)
p.(Ser479Thr)
Unknown
ACMG
likely pathogenic
g.150316646T>A
g.150344170T>A
PRPF3 c.1435 T > A, p.(S479T)
-
PRPF3_000053
heterozygous
PubMed: Wang 2022
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG, SEQ
blood
exome sequencing
retinal disease
21954_II:2
PubMed: Wang 2022
family 21954, individual II:2; parents healthy, untested
M
-
China
Chinese
-
-
-
-
1
LOVD
-?/.
-
c.1464A>G
r.(?)
p.(Glu488=)
Unknown
-
likely benign
g.150316675A>G
-
PRPF3(NM_001350529.1):c.1059A>G (p.E353=)
-
PRPF3_000060
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.1477C>G
r.(?)
p.(Pro493Ala)
Unknown
-
VUS
g.150316688C>G
g.150344212C>G
-
-
PRPF3_000023
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
-
Germline
-
1/1204 cases with retinitis pigmentosa
-
-
-
DNA
SEQ-NG
-
-
retinal disease
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
1
Yoshito Koyanagi
+/.
11
c.1477C>T
r.(?)
p.(Pro493Ser)
Parent #1
-
pathogenic
g.150316688C>T
-
1477C>T
-
PRPF3_000034
-
PubMed: Sullivan 2006
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Sullivan 2006
1 family
-
-
United States
-
-
-
-
-
1
Julia Lopez
?/.
11
c.1477C>T
r.(?)
p.(Pro493Ser)
Both (homozygous)
-
NA
g.150316688C>T
-
p.P493S
-
PRPF3_000034
-
PubMed: Tanackovic 2011
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.1477C>T
r.(?)
p.(Pro493Ser)
Unknown
ACMG
pathogenic
g.150316688C>T
g.150344212C>T
PRPF3:NM_004698 c.C1477T, p.P493S
-
PRPF3_000034
heterozygous, individual solved, variant causal
PubMed: Rodriguez-Munoz 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
blood
-
retinal disease
RPN-309
PubMed: Rodriguez-Munoz 2020
family fRPN-147, proband
F
-
Spain
-
-
-
-
-
1
LOVD
+/.
-
c.1477C>T
r.(?)
p.(Pro493Ser)
Unknown
ACMG
pathogenic
g.150316688C>T
g.150344212C>T
c.1477C>T; p.(Pro493Ser)
-
PRPF3_000034
heterozygous, individual solved, variant causal
PubMed: Rodriguez-Munoz 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
blood
-
retinal disease
RPN-310
PubMed: Rodriguez-Munoz 2020
family fRPN-147, family member
F
-
Spain
-
-
-
-
-
1
LOVD
+?/.
11
c.1477C>T
r.(?)
p.(Pro493Ser)
Unknown
-
likely pathogenic
g.150316688C>T
-
c.1477C>T
-
PRPF3_000034
-
PubMed: Booij-2011
-
-
Germline
-
-
-
-
-
DNA
arraySEQ
Blood
-
retinal disease
-
PubMed: Booij-2011
-
-
-
-
-
-
-
-
-
1
LOVD
+/.
11
c.1477C>T
r.(?)
p.(Pro493Ser)
Unknown
-
pathogenic (dominant)
g.150316688C>T
-
c.1477C>T
-
PRPF3_000034
-
PubMed: Colombo-2020
-
rs121434242
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Colombo-2020
-
M
no
-
-
-
-
-
-
1
LOVD
+/.
11
c.1477C>T
r.(?)
p.(Pro493Ser)
Unknown
-
pathogenic (dominant)
g.150316688C>T
-
c.1477C>T
-
PRPF3_000034
-
PubMed: Colombo-2020
-
rs121434242
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Colombo-2020
-
F
no
-
-
-
-
-
-
1
LOVD
+?/.
-
c.1477C>T
r.(?)
p.(Pro493Ser)
Unknown
-
likely pathogenic
g.150316688C>T
-
PRPF3(NM_001350529.1):c.1072C>T (p.P358S)
-
PRPF3_000034
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.1477C>T
r.(?)
p.(Pro493Ser)
Unknown
ACMG
pathogenic
g.150316688C>T
-
-
-
PRPF3_000034
-
Villafuerte-de la Cruz RA, et al., 2023. Submitted
ClinVar-1426645
rs121434242
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
BUCCAL SWAB
-
retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness
3561418
Villafuerte-de la Cruz RA, et al., 2023. Submitted
-
M
no
Mexico
Hispanic
-
-
-
none
1
Rocio Villafuerte-de la Cruz
+/.
11
c.1478C>T
r.(?)
p.(Pro493Leu)
Unknown
-
pathogenic
g.150316689C>T
-
HPRP3:Pro493Ser (1478C>T)
-
PRPF3_000056
-
PubMed: Chakarova 2002
-
-
Germline
yes
-
-
-
-
DNA
DHPLC, SEQ
-
-
retinal disease
-
PubMed: Chakarova 2002
-
-
-
United Kingdom (Great Britain)
British
-
-
-
-
1
LOVD
+/.
11
c.1478C>T
r.(?)
p.(Pro493Leu)
Unknown
-
pathogenic
g.150316689C>T
-
HPRP3:Pro493Ser (1478C>T)
-
PRPF3_000056
-
PubMed: Chakarova 2002
-
-
Germline
-
-
-
-
-
DNA
DHPLC, SEQ
-
-
retinal disease
-
PubMed: Chakarova 2002
-
-
-
-
-
-
-
-
-
1
LOVD
+/.
11
c.1478C>T
r.(?)
p.(Pro493Leu)
Unknown
-
pathogenic
g.150316689C>T
-
HPRP3:Pro493Ser (1478C>T)
-
PRPF3_000056
-
PubMed: Chakarova 2002
-
-
Germline
-
-
-
-
-
DNA
DHPLC, SEQ
-
-
retinal disease
-
PubMed: Chakarova 2002
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.1480A>G
r.(?)
p.(Thr494Ala)
Parent #1
ACMG
likely pathogenic (dominant)
g.150316691A>G
g.150344215A>G
-
-
PRPF3_000035
-
PubMed: Roberts 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
RP391
PubMed: Roberts 2016
family, see paper
-
-
South Africa
Tswana
-
-
-
-
1
LOVD
+?/.
11
c.1481C>G
r.(?)
p.(Thr494Arg)
Paternal (inferred)
-
likely pathogenic
g.150316692C>G
g.150344216C>G
PRPF3 c.1481C>G
-
PRPF3_000001
heterozygous
PubMed: Meng 2017
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
blood
targeted next generation sequencing
BCD
III:9
PubMed: Meng 2017
-
M
-
-
Chinese
-
-
-
-
1
LOVD
+?/.
11
c.1481C>G
r.(?)
p.(Thr494Arg)
Paternal (inferred)
-
likely pathogenic
g.150316692C>G
g.150344216C>G
PRPF3 c.1481C>G
-
PRPF3_000001
heterozygous
PubMed: Meng 2017
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
targeted next generation sequencing
BCD
IV:1
PubMed: Meng 2017
-
F
-
-
Chinese
-
-
-
-
1
LOVD
+?/.
11
c.1481C>G
r.(?)
p.(Thr494Arg)
Paternal (inferred)
-
likely pathogenic
g.150316692C>G
g.150344216C>G
PRPF3 c.1481C>G
-
PRPF3_000001
heterozygous
PubMed: Meng 2017
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
targeted next generation sequencing
BCD
IV:10
PubMed: Meng 2017
-
M
-
-
Chinese
-
-
-
-
1
LOVD
+?/.
11
c.1481C>G
r.(?)
p.(Thr494Arg)
Paternal (confirmed)
-
likely pathogenic
g.150316692C>G
g.150344216C>G
PRPF3 c.1481C>G
-
PRPF3_000001
heterozygous
PubMed: Meng 2017
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
targeted next generation sequencing
BCD
IV:14
PubMed: Meng 2017
-
M
-
-
Chinese
-
-
-
-
1
LOVD
+?/.
11
c.1481C>G
r.(?)
p.(Thr494Arg)
Paternal (confirmed)
-
likely pathogenic
g.150316692C>G
g.150344216C>G
PRPF3 c.1481C>G
-
PRPF3_000001
heterozygous
PubMed: Meng 2017
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
targeted next generation sequencing
BCD
IV:20
PubMed: Meng 2017
-
M
-
-
Chinese
-
-
-
-
1
LOVD
+?/.
11
c.1481C>G
r.(?)
p.(Thr494Arg)
Paternal (inferred)
-
likely pathogenic
g.150316692C>G
g.150344216C>G
PRPF3 c.1481C>G
-
PRPF3_000001
heterozygous
PubMed: Meng 2017
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
targeted next generation sequencing
BCD
IV:6
PubMed: Meng 2017
-
M
-
-
Chinese
-
-
-
-
1
LOVD
+?/.
11
c.1481C>G
r.(?)
p.(Thr494Arg)
Paternal (confirmed)
-
likely pathogenic
g.150316692C>G
g.150344216C>G
PRPF3 c.1481C>G
-
PRPF3_000001
heterozygous
PubMed: Meng 2017
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
targeted next generation sequencing
BCD
V:12
PubMed: Meng 2017
-
M
-
-
Chinese
-
-
-
-
1
LOVD
+?/.
11
c.1481C>G
r.(?)
p.(Thr494Arg)
Maternal (confirmed)
-
likely pathogenic
g.150316692C>G
g.150344216C>G
PRPF3 c.1481C>G
-
PRPF3_000001
heterozygous
PubMed: Meng 2017
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
targeted next generation sequencing
BCD
V:3
PubMed: Meng 2017
-
F
-
-
Chinese
-
-
-
-
1
LOVD
+?/.
11
c.1481C>G
r.(?)
p.(Thr494Arg)
Maternal (confirmed)
-
likely pathogenic
g.150316692C>G
g.150344216C>G
PRPF3 c.1481C>G
-
PRPF3_000001
heterozygous
PubMed: Meng 2017
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
targeted next generation sequencing
BCD
V:9
PubMed: Meng 2017
-
M
-
-
Chinese
-
-
-
-
1
LOVD
+/.
-
c.1481C>T
r.(?)
p.(Thr494Met)
Unknown
-
pathogenic
g.150316692C>T
g.150344216C>T
-
-
PRPF3_000019
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.1481C>T
r.(?)
p.(Thr494Met)
Unknown
ACMG
pathogenic
g.150316692C>T
-
-
-
PRPF3_000019
-
PubMed: Sharon 2019
-
-
Germline
-
2/2420 IRD families
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Sharon 2019
family
-
-
Israel
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/.
11
c.1481C>T
r.(?)
p.(Thr494Met)
Parent #2
-
pathogenic (dominant)
g.150316692C>T
-
1482C>T / T494M
-
PRPF3_000019
-
PubMed: Martínez-Gimeno 2003
-
-
Germline
yes
-
-
-
-
DNA
DGGE, SEQ
Blood
-
retinal disease
-
PubMed: Martínez-Gimeno 2003
-
-
-
-
Spanish
-
-
-
-
1
Julia Lopez
+?/.
-
c.1481C>T
r.(?)
p.(Thr494Met)
Unknown
-
likely pathogenic
g.150316692C>T
g.150344216C>T
-
-
PRPF3_000019
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
50
PubMed: Stone 2017
1 affected
M
-
(United States)
-
-
-
-
-
1
LOVD
+?/.
-
c.1481C>T
r.(?)
p.(Thr494Met)
Unknown
-
likely pathogenic
g.150316692C>T
g.150344216C>T
-
-
PRPF3_000019
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
297
PubMed: Stone 2017
1 affected
F
-
(United States)
-
-
-
-
-
1
LOVD
+/.
11
c.1481C>T
r.(?)
p.(Thr494Met)
Parent #1
-
pathogenic
g.150316692C>T
-
1481C>T
-
PRPF3_000019
-
PubMed: Sullivan 2006
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Sullivan 2006
1 family
-
-
United States
-
-
-
-
-
1
Julia Lopez
+/.
-
c.1481C>T
r.(?)
p.(Thr494Met)
Parent #1
-
pathogenic (dominant)
g.150316692C>T
-
-
-
PRPF3_000019
-
PubMed: Beryozkin 2015
,
PubMed: Sharon 2019
-
-
Germline
-
2/2420 IRD families
-
-
-
DNA
SEQ
-
-
retinal disease
MOL0108
PubMed: Beryozkin 2015
,
PubMed: Sharon 2019
family
-
-
Israel
Jewish-Yemenite
-
-
-
-
1
Global Variome, with Curator vacancy
+/.
-
c.1481C>T
r.(?)
p.(Thr494Met)
Unknown
-
pathogenic (dominant)
g.150316692C>T
g.150344216C>T
-
-
PRPF3_000019
-
PubMed: Xu 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
RP259
PubMed: Xu 2014
family
M
-
China
-
-
-
-
-
1
LOVD
+/.
-
c.1481C>T
r.(?)
p.(Thr494Met)
Parent #1
-
pathogenic
g.150316692C>T
g.150344216C>T
-
-
PRPF3_000019
-
PubMed: Méndez-Vidal 2014
-
-
Germline
-
-
-
-
-
DNA
arraySEQ
-
Asper
retinal disease
Pat9
PubMed: Méndez-Vidal 2014
-
-
-
Spain
-
-
-
-
-
1
LOVD
+?/.
11
c.1481C>T
r.(?)
p.(Thr494Met)
Unknown
-
likely pathogenic
g.150316692C>T
g.150344216C>T
-
-
PRPF3_000019
-
PubMed: Martin-Merida 2018
-
-
Germline
?
3/258
-
-
-
DNA
?
-
various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES
retinal disease
?
PubMed: Martin-Merida 2018
-
-
-
Spain
-
-
-
-
-
1
LOVD
+?/.
11
c.1481C>T
r.(?)
p.(Thr494Met)
Unknown
-
likely pathogenic
g.150316692C>T
g.150344216C>T
-
-
PRPF3_000019
-
PubMed: Martin-Merida 2018
-
-
Germline
?
3/258
-
-
-
DNA
?
-
various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES
retinal disease
?
PubMed: Martin-Merida 2018
-
-
-
Spain
-
-
-
-
-
1
LOVD
+?/.
11
c.1481C>T
r.(?)
p.(Thr494Met)
Unknown
-
likely pathogenic
g.150316692C>T
g.150344216C>T
-
-
PRPF3_000019
-
PubMed: Martin-Merida 2018
-
-
Germline
?
3/258
-
-
-
DNA
?
-
various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES
retinal disease
?
PubMed: Martin-Merida 2018
-
-
-
Spain
-
-
-
-
-
1
LOVD
?/.
11
c.1481C>T
r.(?)
p.(Thr494Met)
Both (homozygous)
-
NA
g.150316692C>T
-
p.T494M
-
PRPF3_000019
-
PubMed: Tanackovic 2011
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
11
c.1481C>T
r.(?)
p.(Thr494Met)
Both (homozygous)
-
NA
g.150316692C>T
-
p.T494M
-
PRPF3_000019
-
PubMed: Tanackovic 2011
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
11
c.1481C>T
r.(?)
p.(Thr494Met)
Unknown
-
pathogenic
g.150316692C>T
-
c.1481C>T
-
PRPF3_000019
-
PubMed: _Audo-2012
-
-
Unknown
-
-
-
-
-
DNA
SEQ, SEQ-NG-S
blood
-
retinal disease
-
PubMed: _Audo-2012
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
11
c.1481C>T
r.(?)
p.(Thr494Met)
Unknown
-
likely pathogenic
g.150316692C>T
-
c.1481C>T
-
PRPF3_000019
-
PubMed: Kim-2012
-
-
Germline
yes
1/336 cases; 0/360 controls
-
-
-
DNA
PCR
blood
-
retinal disease
-
PubMed: Kim-2012
-
F
-
China
-
-
-
-
-
1
LOVD
+?/.
11
c.1481C>T
r.(?)
p.(Thr494Met)
Unknown
-
likely pathogenic
g.150316692C>T
-
c.1481C>T
-
PRPF3_000019
-
PubMed: Kim-2012
-
-
Germline
yes
1/336 cases; 0/360 controls
-
-
-
DNA
PCR
blood
-
retinal disease
-
PubMed: Kim-2012
-
F
-
China
-
-
-
-
-
1
LOVD
+/.
-
c.1481C>T
r.(?)
p.(Thr494Met)
Unknown
-
pathogenic
g.150316692C>T
g.150344216C>T
PRPF3 c.1481C>T, p.Thr494Met
-
PRPF3_000019
heterozygous
PubMed: Zampaglione 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I, SEQ
blood
-
retinal disease
099-025
PubMed: Zampaglione 2020
-
?
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.1481C>T
r.(?)
p.(Thr494Met)
Parent #1
-
likely pathogenic
g.150316692C>T
g.150344216C>T
PRPF3, variant 1: c.1481C>T/p.T494M
-
PRPF3_000019
solved, heterozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
RET2 targeted sequencing panel - see paper
retinal disease
788
PubMed: Weisschuh 2020
Filing key number: 307, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given
F
-
Germany
-
-
-
-
-
1
LOVD
+/.
11
c.1481C>T
r.(?)
p.(Thr494Met)
Paternal (inferred)
ACMG
pathogenic
g.150316692C>T
g.150344216C>T
PRPF3 c.1481C > T, p.(T494M)
-
PRPF3_000019
heterozygous
PubMed: Wang 2022
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG, SEQ
blood
exome sequencing
retinal disease
23188_II:2
PubMed: Wang 2022
family 23188, individual II:2; 2-generation family, 2 affected
M
-
China
Chinese
-
-
-
-
1
LOVD
+/.
11
c.1481C>T
r.(?)
p.(Thr494Met)
Maternal (inferred)
ACMG
pathogenic
g.150316692C>T
g.150344216C>T
PRPF3 c.1481C > T, p.(T494M)
-
PRPF3_000019
heterozygous
PubMed: Wang 2022
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG, SEQ
blood
exome sequencing
retinal disease
4635_II:1
PubMed: Wang 2022
family 4635, individual II:1; 2-generation family, 2 affected
M
-
China
Chinese
-
-
-
-
1
LOVD
+/.
11
c.1481C>T
r.(?)
p.(Thr494Met)
Unknown
ACMG
pathogenic
g.150316692C>T
g.150344216C>T
PRPF3 c.1481C > T, p.(T494M)
-
PRPF3_000019
heterozygous
PubMed: Wang 2022
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG, SEQ
blood
exome sequencing
retinal disease
20827_II:1
PubMed: Wang 2022
family 20827, individual II:1; parents healthy, untested
F
-
China
Chinese
-
-
-
-
1
LOVD
+/.
11
c.1482C>T
r.?
p.?
Unknown
-
pathogenic
g.150316693C>T
-
HPRP3:Thr494Met (1482C>T)
-
PRPF3_000057
-
PubMed: Chakarova 2002
-
-
Germline
yes
-
-
-
-
DNA
DHPLC, SEQ
-
-
retinal disease
-
PubMed: Chakarova 2002
-
-
-
United Kingdom (Great Britain)
English
-
-
-
-
1
LOVD
+/.
11
c.1482C>T
r.?
p.?
Unknown
-
pathogenic
g.150316693C>T
-
HPRP3:Thr494Met (1482C>T)
-
PRPF3_000057
-
PubMed: Chakarova 2002
-
-
Germline
yes
-
-
-
-
DNA
DHPLC, SEQ
-
-
retinal disease
-
PubMed: Chakarova 2002
-
-
-
-
Danish
-
-
-
-
1
LOVD
+/.
11
c.1482C>T
r.?
p.?
Unknown
-
pathogenic
g.150316693C>T
-
HPRP3:Thr494Met
-
PRPF3_000057
-
PubMed: Wada 2004
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Wada 2004
-
F
-
Japan
Japanese
-
-
-
-
1
LOVD
+/.
11
c.1482C>T
r.?
p.?
Unknown
-
pathogenic
g.150316693C>T
-
HPRP3:Thr494Met
-
PRPF3_000057
-
PubMed: Wada 2004
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Wada 2004
-
F
-
Japan
Japanese
-
-
-
-
1
LOVD
+/.
11
c.1482C>T
r.?
p.?
Unknown
-
pathogenic
g.150316693C>T
-
HPRP3:Thr494Met
-
PRPF3_000057
-
PubMed: Wada 2004
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Wada 2004
-
M
-
Japan
Japanese
-
-
-
-
1
LOVD
+/.
11
c.1482C>T
r.?
p.?
Unknown
-
pathogenic
g.150316693C>T
-
T494M
-
PRPF3_000057
0/96 controls
PubMed: Vaclavik 2010
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
III.3
PubMed: Vaclavik 2010
-
F
-
Switzerland
Swiss
-
-
-
-
1
LOVD
+/.
11
c.1482C>T
r.?
p.?
Unknown
-
pathogenic
g.150316693C>T
-
T494M
-
PRPF3_000057
0/96 controls
PubMed: Vaclavik 2010
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
IV.3
PubMed: Vaclavik 2010
-
M
-
Switzerland
Swiss
-
-
-
-
1
LOVD
+/.
11
c.1482C>T
r.?
p.?
Unknown
-
pathogenic
g.150316693C>T
-
T494M
-
PRPF3_000057
0/96 controls
PubMed: Vaclavik 2010
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
IV.4
PubMed: Vaclavik 2010
-
M
-
Switzerland
Swiss
-
-
-
-
1
LOVD
+/.
11
c.1482C>T
r.?
p.?
Unknown
-
pathogenic
g.150316693C>T
-
T494M
-
PRPF3_000057
0/96 controls
PubMed: Vaclavik 2010
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
III.8
PubMed: Vaclavik 2010
-
M
-
Switzerland
Swiss
-
-
-
-
1
LOVD
+/.
11
c.1482C>T
r.?
p.?
Unknown
-
pathogenic
g.150316693C>T
-
T494M
-
PRPF3_000057
0/96 controls
PubMed: Vaclavik 2010
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
IV.6
PubMed: Vaclavik 2010
-
F
-
Switzerland
Swiss
-
-
-
-
1
LOVD
+/.
11
c.1482C>T
r.?
p.?
Unknown
-
pathogenic
g.150316693C>T
-
T494M
-
PRPF3_000057
0/96 controls
PubMed: Vaclavik 2010
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
III.9
PubMed: Vaclavik 2010
-
F
-
Switzerland
Swiss
-
-
-
-
1
LOVD
+/.
11
c.1482C>T
r.?
p.?
Unknown
-
pathogenic
g.150316693C>T
-
T494M
-
PRPF3_000057
0/96 controls
PubMed: Vaclavik 2010
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
IV.9
PubMed: Vaclavik 2010
-
F
-
Switzerland
Swiss
-
-
-
-
1
LOVD
+/.
11
c.1482C>T
r.?
p.?
Unknown
-
pathogenic
g.150316693C>T
-
T494M
-
PRPF3_000057
0/96 controls
PubMed: Vaclavik 2010
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
V.11
PubMed: Vaclavik 2010
-
M
-
Switzerland
Swiss
-
-
-
-
1
LOVD
+/.
11
c.1482C>T
r.?
p.?
Unknown
-
pathogenic
g.150316693C>T
-
T494M
-
PRPF3_000057
0/96 controls
PubMed: Vaclavik 2010
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
III.13
PubMed: Vaclavik 2010
-
M
-
Switzerland
Swiss
-
-
-
-
1
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