Global Variome shared LOVD
TULP1 (tubby like protein 1)
LOVD v.3.0 Build 30b [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Markus Preising
View all genes
View TULP1 gene homepage
View graphs about the TULP1 gene database
Create a new gene entry
View all transcripts
View all transcripts of gene TULP1
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene TULP1
View all variants in gene TULP1
Full data view for gene TULP1
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
View all individuals with variants in gene TULP1
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene TULP1
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene TULP1
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
Full data view for gene TULP1
This database is one of the
"Eye disease"
gene variant databases.
The variants shown are described using the NM_003322.3 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
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
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'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
555 entries on 6 pages. Showing entries 1 - 100.
10 per page
25 per page
50 per page
100 per page
Legend
How to query
« First
Prev
1
2
3
4
5
6
Next
Last »
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.-349_999+49del
r.spl
p.(?)
Unknown
-
likely pathogenic
g.35473731_35480984del
g.35505954_35513207del
TULP1 chr6:35473733_35480986del
-
TULP1_000153
range 7116-7252 bp in various techniques, heterozygous
PubMed: Zampaglione 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I, PCRq
blood
-
retinal disease
OGI2868_004453
PubMed: Zampaglione 2020
-
?
-
-
-
-
-
-
-
1
LOVD
-?/.
-
c.-5G>C
r.(?)
p.(=)
Unknown
-
likely benign
g.35480640C>G
g.35512863C>G
TULP1(NM_003322.6):c.-5G>C
-
TULP1_000090
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.?
r.?
p.?
Parent #2
-
likely pathogenic
g.?
-
del ex9-13
-
LAMA2_000000
-
PubMed: Huang 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
283-gene panel
retinal disease
RP025
PubMed: Huang 2018
-
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.?
r.(?)
p.?
Unknown
-
pathogenic
g.?
-
p.p.TULP1-F529_A530dup
-
LAMA2_000000
-
PubMed: Schorderet-2013
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQp
blood
targeted exon capture/IROme assay
retinal disease
-
PubMed: Schorderet-2013
-
-
-
Switzerland
Swiss, Algerian or Tunisian
-
-
-
-
1
LOVD
+?/.
1
c.3G>A
r.(?)
p.(Met1?)
Unknown
-
likely pathogenic
g.35480633C>T
g.35512856C>T
G3A
-
TULP1_000129
-
PubMed: Katagiri 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
RP#016
PubMed: Katagiri 2014
family
-
-
Japan
-
-
-
-
-
1
LOVD
-?/.
-
c.30G>A
r.(?)
p.(Glu10=)
Unknown
-
likely benign
g.35480606C>T
g.35512829C>T
TULP1(NM_003322.5):c.30G>A (p.E10=)
-
TULP1_000089
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.43G>A
r.(?)
p.(Asp15Asn)
Unknown
-
likely pathogenic
g.35480593C>T
-
-
-
TULP1_000103
-
PubMed: Jinda 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
retinal disease
RP038
PubMed: Jinda 2014
-
M
-
Thailand
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.43G>A
r.(?)
p.(Asp15Asn)
Unknown
-
likely pathogenic (recessive)
g.35480593C>T
g.35512816C>T
-
-
TULP1_000103
-
PubMed: Jinda 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
RP038
PubMed: Jinda 2017
patient
-
-
Thailand
-
-
-
-
-
1
LOVD
+?/?
2i
c.99+1G>A
r.spl?
p.?
Maternal (confirmed)
-
likely pathogenic
g.35480415C>T
g.35512638C>T
IVS2+1, G->A
-
TULP1_000001
-
PubMed: Hagstrom 1998
-
-
Germline
-
-
-
-
-
DNA
SSCA, PCRdig, SEQ, PAGE
-
-
RPar
-
PubMed: Hagstrom 1998
2 generation family 1 affected, 5 carrier
F
no
United States
-
-
-
-
-
1
Raheel Qamar
+/?
2i
c.99+1G>A
r.spl?
p.?
Paternal (confirmed)
-
pathogenic
g.35480415C>T
g.35512638C>T
IVS2+1G>A
-
TULP1_000001
-
PubMed: Banerjee 1998
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ, SSCA, PAGE
-
-
RPar
-
PubMed: Banerjee 1998
-
M
no
United States
-
-
-
-
-
1
Raheel Qamar
+/?
2i
c.99+1G>A
r.spl?
p.?
Parent #1
-
pathogenic
g.35480415C>T
g.35512638C>T
c.99+1G>A
-
TULP1_000001
-
PubMed: Hanein 2004
-
-
Germline
-
-
-
-
-
DNA
SEQ, PCR, DHPLC
-
-
LCA15
-
PubMed: Hanein 2004
-
-
-
Italy
-
-
-
-
-
1
Raheel Qamar
+?/.
2i
c.99+3A>G
r.(?)
p.?
Both (homozygous)
-
likely pathogenic
g.35480413T>C
-
IVS2+3A>G
-
TULP1_000106
-
PubMed: Mandal 2005
-
-
Germline
-
-
-
-
-
DNA
arraySEQ
blood
-
retinal disease
-
PubMed: Mandal 2005
-
-
-
-
-
-
-
-
-
1
Julia Lopez
-/.
-
c.99+12C>A
r.(=)
p.(=)
Unknown
-
benign
g.35480404G>T
g.35512627G>T
TULP1(NM_003322.6):c.99+12C>A
-
TULP1_000062
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.100-10C>T
r.(=)
p.(=)
Unknown
-
likely benign
g.35480057G>A
g.35512280G>A
TULP1(NM_003322.5):c.100-10C>T, TULP1(NM_003322.6):c.100-10C>T
-
TULP1_000088
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.100-10C>T
r.(=)
p.(=)
Unknown
-
likely benign
g.35480057G>A
g.35512280G>A
TULP1(NM_003322.5):c.100-10C>T, TULP1(NM_003322.6):c.100-10C>T
-
TULP1_000088
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.100C>T
r.(?)
p.(Arg34*)
Parent #2
-
likely pathogenic
g.35480047G>A
g.35512270G>A
-
-
TULP1_000118
-
PubMed: Huang 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
283-gene panel
retinal disease
RP086
PubMed: Huang 2018
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
3
c.147del
r.(?)
p.(Glu50AsnfsTer59)
Parent #1
ACMG
likely pathogenic
g.35480004del
g.35512227del
-
-
TULP1_000183
-
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
smMIP-based 105 iMD/AMD genes
macular dystrophy
DNA12-12851
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
M
-
-
-
-
-
-
-
1
Rebekkah Hitti-Malin
+?/.
-
c.148del
r.(?)
p.(Glu50Asnfs*59)
Both (homozygous)
-
likely pathogenic (recessive)
g.35479999del
g.35512222del
-
-
TULP1_000064
-
PubMed: Avela 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
Pat30
PubMed: Avela 2018
-
-
-
Finland
-
-
-
-
-
1
LOVD
+?/.
3
c.148del
r.(?)
p.(Glu50Asnfs*45)
Both (homozygous)
-
likely pathogenic
g.35479999del
-
c.148delG
-
TULP1_000064
Check also: Avela 2018
PubMed: Avela 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
-
PubMed: Avela 2019
-
-
-
Finland
Finnish
-
-
-
-
1
LOVD
+?/.
3
c.148del
r.(?)
p.(Glu50Asnfs*45)
Both (homozygous)
-
likely pathogenic
g.35479999del
-
c.148delG
-
TULP1_000064
Check also: Avela 2018
PubMed: Avela 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
-
PubMed: Avela 2019
-
-
-
Finland
Finnish
-
-
-
-
1
LOVD
+?/.
-
c.148del
r.(?)
p.(Glu50Asnfs*59)
Both (homozygous)
-
likely pathogenic
g.35479999del
g.35512222del
TULP1 c.148delG
-
TULP1_000064
no protein annotation; homozygous
PubMed: Avela 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
-
targeted gene analysis or a next-generation sequencing-based gene panel
retinal disease
16a
PubMed: Avela 2019
Family 16, invidivual a
?
-
Finland
-
-
-
-
-
1
LOVD
+?/.
-
c.148del
r.(?)
p.(Glu50Asnfs*59)
Both (homozygous)
-
likely pathogenic
g.35479999del
g.35512222del
TULP1 c.148delG
-
TULP1_000064
no protein annotation; homozygous
PubMed: Avela 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
-
targeted gene analysis or a next-generation sequencing-based gene panel
retinal disease
16b
PubMed: Avela 2019
Family 16, invidivual b
?
-
Finland
-
-
-
-
-
1
LOVD
+?/.
-
c.180del
r.(?)
p.(Lys61SerfsTer48)
Unknown
-
likely pathogenic
g.35479968del
g.35512191del
-
-
TULP1_000123
-
PubMed: Patel 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
09DG01106
PubMed: Patel 2016
-
-
-
Saudi Arabia
-
-
-
-
-
1
LOVD
?/.
-
c.184C>T
r.(?)
p.(Pro62Ser)
Unknown
-
VUS
g.35479963G>A
g.35512186G>A
TULP1(NM_003322.5):c.184C>T (p.P62S)
-
TULP1_000094
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.187G>T
r.(?)
p.(Gly63*)
Both (homozygous)
ACMG
pathogenic
g.35479960C>A
g.35512183C>A
TULP1 NM_003322: g.756G>T, c.187G>T, p.G63X
-
TULP1_000150
-
PubMed: Xu 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
targeted next-generation sequencing
retinal disease
19032
PubMed: Xu 2020
-
?
yes
China
-
-
-
-
-
1
LOVD
+/.
-
c.187G>T
r.(?)
p.(Gly63*)
Parent #1
ACMG
pathogenic
g.35479960C>A
g.35512183C>A
TULP1 c.[187G>T];[499+5G>C], V1: c.187G>T, (p.Gly63Ter)
-
TULP1_000150
alleles in trans; heterozygous
PubMed: Chen 2021
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
212 inherited retinal disease-related genes
retinal disease
F039
PubMed: Chen 2021
-
?
-
Taiwan
-
-
-
-
-
1
LOVD
+/.
-
c.187G>T
r.(?)
p.(Gly63Ter)
Parent #1
-
pathogenic
g.35479960C>A
g.35512183C>A
TULP1 c.[187G>T];[499+5G>C]; p.(Gly63Ter)
-
TULP1_000150
heterozygous
PubMed: Chen 2021
-
-
Germline
yes
Taiwan Biobank: 0.001214; GnomAD_exome_East: 0.000482; GnomAD_All: 0.0000533
-
-
-
DNA
SEQ-NG
-
targeted 212 IRD-related genes
retinal disease
F039
PubMed: Chen 2021
-
-
-
Taiwan
-
-
-
-
-
1
LOVD
+?/.
3i
c.190+1G>A
r.spl?
p.(?)
Both (homozygous)
-
likely pathogenic
g.35479956C>T
-
c.190+1G>A
-
TULP1_000174
-
PubMed: Panneman 2023
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
RP-LCA smMIPs sequencing
retinal disease
-
PubMed: Panneman 2023
-
M
-
-
-
-
-
-
-
1
Daan Panneman
-?/.
-
c.190+6C>T
r.(=)
p.(=)
Unknown
-
likely benign
g.35479951G>A
g.35512174G>A
TULP1(NM_003322.5):c.190+6C>T, TULP1(NM_003322.6):c.190+6C>T
-
TULP1_000061
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.190+6C>T
r.(=)
p.(=)
Unknown
-
likely benign
g.35479951G>A
-
TULP1(NM_003322.5):c.190+6C>T, TULP1(NM_003322.6):c.190+6C>T
-
TULP1_000061
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.190+20C>T
r.(=)
p.(=)
Unknown
-
likely benign
g.35479937G>A
-
TULP1(NM_003322.6):c.190+20C>T
-
TULP1_000180
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.200C>G
r.(?)
p.(Thr67Arg)
Unknown
-
benign
g.35479574G>C
g.35511797G>C
TULP1(NM_003322.6):c.200C>G (p.T67R)
-
TULP1_000060
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.200C>G
r.(?)
p.(Thr67Arg)
Unknown
-
benign
g.35479574G>C
g.35511797G>C
TULP1(NM_003322.6):c.200C>G (p.T67R)
-
TULP1_000060
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.200C>G
r.(?)
p.(Thr67Arg)
Unknown
-
benign
g.35479574G>C
g.35511797G>C
-
-
TULP1_000060
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
rs7764472
Germline
-
287/1204 cases with retinitis pigmentosa
-
-
-
DNA
SEQ-NG
-
-
retinal disease
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
287
Yoshito Koyanagi
-/.
-
c.200C>G
r.(?)
p.(Thr67Arg)
Both (homozygous)
-
benign
g.35479574G>C
g.35511797G>C
-
-
TULP1_000060
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
rs7764472
Germline
-
891/1204 cases with retinitis pigmentosa
-
-
-
DNA
SEQ-NG
-
-
retinal disease
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
891
Yoshito Koyanagi
-/?
4
c.200G
r.(?)
p.(=)
Both (homozygous)
-
benign
g.35479574G
-
AGG->ACG / p.(Arg67Thr)
-
TULP1_000005
Variant Error [ESYNTAX]: This genomic variant has an error (char 25: end of input). Please fix this entry and then remove this message.
PubMed: Banerjee 1998
-
-
Germline
-
2/26 chromosomes (0.08)
-
-
-
DNA
PCR, SEQ, SSCA, PAGE
-
-
-
-
PubMed: Banerjee 1998
?
?
?
Dominican Republic
-
-
-
-
-
1
Raheel Qamar
-?/?
4
c.200G
r.(?)
p.(=)
Both (homozygous)
-
likely benign
g.35479574G
-
Arg67Thr
-
TULP1_000005
Linkage Analysis Variant Error [ESYNTAX]: This genomic variant has an error (char 25: end of input). Please fix this entry and then remove this message.
PubMed: Gu 1998
-
-
Germline
-
-
-
-
-
DNA
RT-PCR, SEQ, SSCA
-
-
RPar
-
PubMed: Gu 1998
-
?
-
Germany
-
-
-
-
-
1
Raheel Qamar
-?/?
4
c.200G
r.(?)
p.(=)
Both (homozygous)
-
likely benign
g.35479574G
-
AGG->ACG / p.(Arg67Thr)
-
TULP1_000005
Variant Error [ESYNTAX]: This genomic variant has an error (char 25: end of input). Please fix this entry and then remove this message.
PubMed: Hagstrom 1998
-
-
Germline
-
-
-
-
-
DNA
SSCA, PCRdig, SEQ, PAGE
-
-
retinal disease
-
PubMed: Hagstrom 1998
2 generation family 1 affected, 5 carrier
M
no
-
-
-
-
-
-
1
Raheel Qamar
+?/.
4
c.211_212dup
r.(?)
p.(Asp71Glufs*25)
Unknown
-
likely pathogenic (recessive)
g.35479562_35479563dup
-
c.212_213insCG
-
TULP1_000162
-
PubMed: Liu-2020
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
hereditary eye disease enrichment panel (HEDEP)
retinal disease
-
PubMed: Liu-2020
-
M
-
-
-
-
-
-
-
1
LOVD
-?/.
-
c.226C>G
r.(?)
p.(Pro76Ala)
Unknown
-
likely benign
g.35479548G>C
-
TULP1(NM_003322.5):c.226C>G (p.P76A)
-
TULP1_000167
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.248C>A
r.(?)
p.(Ala83Glu)
Unknown
-
VUS
g.35479526G>T
g.35511749G>T
-
-
TULP1_000076
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
rs765249939
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
+/.
4
c.280G>T
r.(?)
p.(Asp94Tyr)
Both (homozygous)
-
pathogenic
g.35479494C>A
-
c.280G>T
-
TULP1_000143
-
PubMed: Beryozkin-2014
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Beryozkin-2014
-
-
yes
-
Arab-Muslim
-
-
-
-
1
LOVD
+?/.
-
c.286_287delGA
r.(?)
p.(Glu96Glyfs*77)
Both (homozygous)
-
likely pathogenic
g.35479487_35479488del
g.35511710_35511711del
TULP1 c.286_287delGA (p.E96Gfs77*)
-
TULP1_000164
homozygous
PubMed: Ullah 2016
-
-
Germline
yes
-
-
-
-
DNA
SEQ, STR
-
-
retinal disease
PKRP364 _10
PubMed: Ullah 2016
family PKRP364 , individual 10
M
-
Pakistan
-
-
-
-
-
1
LOVD
+?/.
-
c.286_287delGA
r.(?)
p.(Glu96Glyfs*77)
Both (homozygous)
-
likely pathogenic
g.35479487_35479488del
g.35511710_35511711del
TULP1 c.286_287delGA (p.E96Gfs77*)
-
TULP1_000164
homozygous
PubMed: Ullah 2016
-
-
Germline
yes
-
-
-
-
DNA
SEQ, STR
-
-
retinal disease
PKRP364 _20
PubMed: Ullah 2016
family PKRP364 , individual 20
M
-
Pakistan
-
-
-
-
-
1
LOVD
-?/.
4
c.310del
r.(?)
p.(Glu104Lysfs*5)
Unknown
-
likely benign
g.35479464delC
-
c.310delG
-
TULP1_000140
-
PubMed: Chen-2013
-
-
Unknown
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Chen-2013
-
-
-
China
Chinese
-
-
-
-
1
LOVD
+?/.
-
c.349G>A
r.(?)
p.(Glu117Lys)
Parent #1
-
likely pathogenic
g.35479425C>T
g.35511648C>T
-
-
TULP1_000117
-
PubMed: Huang 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
283-gene panel
retinal disease
RP025
PubMed: Huang 2018
-
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.349G>A
r.spl
p.(Glu117Lys)
Parent #2
-
pathogenic
g.35479425C>T
g.35511648C>T
-
-
TULP1_000117
-
PubMed: Oishi 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
193-gene panel
retinal disease
K6131
PubMed: Oishi 2014
family
-
-
Japan
-
-
-
-
-
1
LOVD
+/.
-
c.349G>A
r.spl
p.(Glu117Lys)
Both (homozygous)
-
pathogenic
g.35479425C>T
g.35511648C>T
-
-
TULP1_000117
-
PubMed: Oishi 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
193-gene panel
retinal disease
K6326
PubMed: Oishi 2014
family
-
-
Japan
-
-
-
-
-
1
LOVD
+?/.
-
c.349G>A
r.(?)
p.(Glu117Lys)
Both (homozygous)
-
likely pathogenic
g.35479425C>T
g.35511648C>T
TULP1 c.349G>A, p.E117K
-
TULP1_000117
homozygous
PubMed: Jauregui 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
targeted sequencing
retinal disease
104
PubMed: Jauregui 2020
-
M
-
(United States)
Asian
-
-
-
-
1
LOVD
?/.
-
c.349G>A
r.(?)
p.(Glu117Lys)
Both (homozygous)
ACMG
VUS
g.35479425C>T
g.35511648C>T
TULP1 c.G349A, p.E117K
-
TULP1_000117
marked as causative, homozygous
PubMed: Ma 2021
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I, SEQ
-
whole exome sequencing
retinal disease
26
PubMed: Ma 2021
-
?
-
Korea
-
-
-
-
-
1
LOVD
+/?
4i_5
c.350-2_350del
r.(?)
p.?
Maternal (confirmed)
-
pathogenic
g.35478787_35478789del
g.35511010_35511012del
IVS4-2delAGA
-
TULP1_000006
-
PubMed: Paloma 2000
-
-
Germline
-
-
MspI+
-
-
DNA
PCRdig, SEQ, SSCA, PAGE
-
-
RPar
-
PubMed: Paloma 2000
-
F
?
Spain
Spainish
-
-
-
-
1
Raheel Qamar
+?/.
-
c.361G>T
r.(?)
p.(Glu121*)
Unknown
ACMG
likely pathogenic
g.35478776C>A
g.35510999C>A
TULP1 c.361G>T, p.(Glu121*)
-
TULP1_000142
single heterozygous variant (recessive)
PubMed: Jespersgaar 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
125 genes associated with inherited retinal disorders, see paper supplemental data
retinal disease
473
PubMed: Jespersgaar 2019
-
?
-
Denmark
-
-
-
-
-
1
LOVD
?/.
-
c.370G>A
r.(?)
p.(Asp124Asn)
Unknown
-
VUS
g.35478767C>T
g.35510990C>T
-
-
TULP1_000075
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
rs565455738
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
?/.
-
c.371_394del
r.(?)
p.(Asp124_Glu131del)
Unknown
-
VUS
g.35478756_35478779del
g.35510979_35511002del
TULP1(NM_003322.5):c.371_394delACGAGGAGGACGAGGAAGAGGAGG (p.D124_E131del), TULP1(NM_003322.6):c.371_394delACGAGGAGGACGAGGAAGAGGAGG (p.D124_E131del)
-
TULP1_000058
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.371_394del
r.(?)
p.(Asp124_Glu131del)
Unknown
-
VUS
g.35478756_35478779del
g.35510979_35511002del
TULP1(NM_003322.5):c.371_394delACGAGGAGGACGAGGAAGAGGAGG (p.D124_E131del), TULP1(NM_003322.6):c.371_394delACGAGGAGGACGAGGAAGAGGAGG (p.D124_E131del)
-
TULP1_000058
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.371_394del
r.(?)
p.(Asp124_Glu131del)
Unknown
-
VUS
g.35478756_35478779del
g.35510979_35511002del
-
-
TULP1_000058
no genotypes reported
PubMed: Sergouniotis 2016
-
rs281865169
Germline
-
2/486 individuals
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
-
PubMed: Sergouniotis 2016
analysis 486 cases
-
-
United Kingdom (Great Britain)
-
-
-
-
-
2
LOVD
+/.
5
c.371_394del
r.(?)
p.(Pro125_Glu132del)
Unknown
-
pathogenic
g.35478743_35478766del
-
c.371_394del
-
TULP1_000058
Unknown 2nd allele
PubMed: Eisenberger-2013
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I, SEQ-NG-R, SEQ
blood
-
retinal disease
-
PubMed: Eisenberger-2013
-
M
no
Germany
-
-
-
-
-
1
LOVD
+/.
5
c.371_394del
r.(?)
p.(Pro125_Glu132del)
Unknown
-
pathogenic
g.35478743_35478766del
-
c.371_394del
-
TULP1_000058
Unknown 2nd allele
PubMed: Eisenberger-2013
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I, SEQ-NG-R, SEQ
blood
-
retinal disease
-
PubMed: Eisenberger-2013
-
F
no
Germany
-
-
-
-
-
1
LOVD
?/.
-
c.371_394del
r.(?)
p.(Asp124_Glu131del)
Unknown
ACMG
VUS
g.35478756_35478779del
g.35510979_35511002del
TULP1:NM_003322 c.371_394del, p.D124_E131del
-
TULP1_000058
heterozygous, individual unsolved, causality of variants unknown
PubMed: Rodriguez-Munoz 2020
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
-
retinal disease
RPN-315
PubMed: Rodriguez-Munoz 2020
-
?
-
Spain
-
-
-
-
-
1
LOVD
?/.
-
c.371_394del
r.(?)
p.(Asp124_Glu131del)
Unknown
-
VUS
g.35478756_35478779del
-
TULP1(NM_003322.5):c.371_394delACGAGGAGGACGAGGAAGAGGAGG (p.D124_E131del), TULP1(NM_003322.6):c.371_394delACGAGGAGGACGAGGAAGAGGAGG (p.D124_E131del)
-
TULP1_000058
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
5
c.373G>T
r.(?)
p.(Glu125*)
Both (homozygous)
-
likely pathogenic
g.35478764C>A
-
c.373G>T
-
TULP1_000173
-
PubMed: Panneman 2023
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
RP-LCA smMIPs sequencing
LCA
-
PubMed: Panneman 2023
-
F
-
-
-
-
-
-
-
1
Daan Panneman
?/.
-
c.378_386del
r.(?)
p.(Asp127_Glu129del)
Unknown
-
VUS
g.35478765_35478773del
-
TULP1(NM_003322.6):c.378_386delGGACGAGGA (p.D127_E129del)
-
TULP1_000144
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.378_386dup
r.(?)
p.(Asp127_Glu129dup)
Unknown
-
benign
g.35478765_35478773dup
g.35510988_35510996dup
TULP1(NM_003322.5):c.378_386dupGGACGAGGA (p.D127_E129dup)
-
TULP1_000087
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/?
5
c.394_417del
r.(?)
p.(Glu132_Thr139del)
Parent #1
-
pathogenic
g.35478720_35478743del
g.35510943_35510966del
394del24 E120-D127del
-
TULP1_000008
-
PubMed: Gu 1998
-
-
Germline
-
-
-
-
-
DNA
RT-PCR, SEQ, SSCA
-
-
retinal disease
-
PubMed: Gu 1998
-
?
-
Germany
-
-
-
-
-
1
Raheel Qamar
+/?
5
c.394_417del
r.(?)
p.(Glu132_Thr139del)
Parent #1
-
pathogenic
g.35478720_35478743del
g.35510943_35510966del
394del24 E120-D127del
-
TULP1_000008
-
PubMed: Paloma 2000
-
-
Germline
-
2/50 controls
-
-
-
DNA
RT-PCR, SEQ, SSCA
-
-
retinal disease
-
PubMed: Paloma 2000
-
?
?
-
-
-
-
-
-
1
Raheel Qamar
+/.
-
c.447_448del
r.(?)
p.(Lys150GlufsTer23)
Unknown
-
pathogenic
g.35478695_35478696del
g.35510918_35510919del
TULP1(NM_003322.6):c.447_448delGA (p.K150Efs*23)
-
TULP1_000086
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
6
c.450_451insCT
r.(?)
p.(Glu151Leufs*34)
Unknown
-
likely pathogenic (recessive)
g.35478686_35478687insAG
-
c.450_451insCT
-
TULP1_000161
-
PubMed: Colombo-2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Colombo-2020
-
M
no
-
-
-
-
-
-
1
LOVD
+/.
-
c.487C>T
r.(?)
p.(Gln163*)
Parent #2
-
pathogenic
g.35478650G>A
g.35510873G>A
-
-
TULP1_000114
-
PubMed: Comander 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
Pat33
PubMed: Comander 2017
proband
F
-
United States
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.499+5G>C
r.spl?
p.(?)
Parent #2
ACMG
VUS
g.35478633C>G
g.35510856C>G
TULP1 c.[187G>T];[499+5G>C], V2: c.499+5G>C,
-
TULP1_000163
alleles in trans; heterozygous
PubMed: Chen 2021
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
212 inherited retinal disease-related genes
retinal disease
F039
PubMed: Chen 2021
-
?
-
Taiwan
-
-
-
-
-
1
LOVD
?/.
-
c.499+5G>C
r.spl?
p.?
Parent #2
-
VUS
g.35478633C>G
g.35510856C>G
TULP1 c.[187G>T];[499+5G>C]; p.?
-
TULP1_000163
heterozygous
PubMed: Chen 2021
-
-
Germline
yes
Taiwan Biobank: 0; GnomAD_exome_East: 0.000218; GnomAD_All: 0.0000637
-
-
-
DNA
SEQ-NG
-
targeted 212 IRD-related genes
retinal disease
F039
PubMed: Chen 2021
-
-
-
Taiwan
-
-
-
-
-
1
LOVD
-?/.
-
c.499+12G>C
r.(=)
p.(=)
Unknown
-
likely benign
g.35478626C>G
g.35510849C>G
TULP1(NM_003322.6):c.499+12G>C
-
TULP1_000057
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.523C>G
r.(?)
p.(Pro175Ala)
Unknown
-
likely benign
g.35477682G>C
g.35509905G>C
TULP1(NM_003322.5):c.523C>G (p.P175A)
-
TULP1_000056
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.524dup
r.(?)
p.(Pro176Thrfs*7)
Maternal (confirmed)
-
likely pathogenic (recessive)
g.35477686dup
g.35509909dup
-
-
TULP1_000113
no variant 2nd chromosome
PubMed: Thompson 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
Fam1620
PubMed: Thompson 2017
-
-
-
Australia
-
-
-
-
-
1
LOVD
+?/.
-
c.524dupC
r.(?)
p.(Pro176Thrfs*7)
Both (homozygous)
-
likely pathogenic
g.35477686dup
g.35509909dup
TULP1 c.524dupC, p.(Pro176Thrfs*7)
-
TULP1_000113
homozygous - maternal uniparental isodisomy
PubMed: Souzeau 2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
-
disease-specific IRD next-generation sequencing SmartPanel (250 genes) v9
retinal disease
?
PubMed: Souzeau 2018
-
F
no
-
Italian
-
-
-
-
1
LOVD
?/.
-
c.527C>A
r.(?)
p.(Pro176Gln)
Unknown
-
VUS
g.35477678G>T
g.35509901G>T
TULP1(NM_003322.6):c.527C>A (p.P176Q)
-
TULP1_000085
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.527dup
r.(?)
p.(Lys177GlufsTer6)
Parent #1
-
VUS
g.35477679dup
g.35509902dup
-
-
TULP1_000126
-
PubMed: Wang 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
163-gene panel
retinal disease
98
PubMed: Wang 2015
index case
-
-
China
-
-
-
-
-
1
LOVD
+/.
-
c.528_529insT
r.(?)
p.(Lys177*)
Unknown
ACMG
pathogenic
g.35477676_35477677insA
-
-
-
TULP1_000102
-
PubMed: Sharon 2019
-
-
Germline
-
1/2420 IRD families
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Sharon 2019
1 IRD family
-
-
Israel
-
-
-
-
-
1
Global Variome, with Curator vacancy
?/.
-
c.538C>T
r.(?)
p.(Arg180Cys)
Unknown
-
VUS
g.35477667G>A
g.35509890G>A
TULP1(NM_003322.5):c.538C>T (p.R180C)
-
TULP1_000055
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.538C>T
r.(?)
p.(Arg180Cys)
Unknown
-
VUS
g.35477667G>A
g.35509890G>A
-
-
TULP1_000055
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
rs139588263
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
-?/.
-
c.539G>A
r.(?)
p.(Arg180His)
Unknown
-
likely benign
g.35477666C>T
-
TULP1(NM_003322.5):c.539G>A (p.R180H)
-
TULP1_000105
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
6
c.539G>A
r.(?)
p.(Arg180His)
Unknown
-
likely pathogenic
g.35477666C>T
-
c.539G.A
-
TULP1_000105
-
PubMed: González-del Pozo-2011
-
-
Germline
-
0/200 controls
-
-
-
DNA
arraySEQ, MLPA
-
-
retinal disease
-
PubMed: González-del Pozo-2011
-
-
-
-
Spanish
-
-
-
-
1
LOVD
?/.
-
c.539G>A
r.(?)
p.(Arg180His)
Unknown
ACMG
VUS
g.35477666C>T
g.35509889C>T
TULP1:NM_003322 c.G539A, p.R180H
-
TULP1_000105
heterozygous, individual unsolved, causality of variants unknown
PubMed: Rodriguez-Munoz 2020
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
-
retinal disease
RP-1943
PubMed: Rodriguez-Munoz 2020
-
?
-
Spain
-
-
-
-
-
1
LOVD
+/.
-
c.568G>T
r.(?)
p.(Glu190*)
Both (homozygous)
-
pathogenic
g.35477637C>A
g.35509860C>A
586G>T
-
TULP1_000091
-
-
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
F
-
-
-
-
-
-
-
1
IMGAG
+/.
-
c.568G>T
r.(?)
p.(Glu190Ter)
Both (homozygous)
ACMG
pathogenic (recessive)
g.35477637C>A
g.35509860C>A
-
-
TULP1_000091
ACMG PM2, PVS1, PP5
PubMed: Weisschuh 2024
987369
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
ARRP-380
PubMed: Weisschuh 2024
patient, no family history
F
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.592A>T
r.(?)
p.(Lys198Ter)
Unknown
-
likely pathogenic
g.35477613T>A
g.35509836T>A
TULP1(NM_003322.5):c.592A>T (p.K198*)
-
TULP1_000054
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.601+4A>G
r.spl?
p.?
Unknown
-
likely benign
g.35477600T>C
g.35509823T>C
TULP1(NM_003322.6):c.601+4A>G
-
TULP1_000053
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.602-4G>A
r.spl?
p.?
Unknown
-
likely benign
g.35477531C>T
-
TULP1(NM_003322.5):c.602-4G>A
-
TULP1_000166
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.615C>T
r.(?)
p.(Ala205=)
Unknown
-
likely benign
g.35477514G>A
-
TULP1(NM_003322.5):c.615C>T (p.A205=)
-
TULP1_000097
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.627del
r.(?)
p.(Ser210GlnfsTer27)
Both (homozygous)
-
pathogenic
g.35477505del
g.35509728del
-
-
TULP1_000125
-
PubMed: Wang 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
163-gene panel
retinal disease
74
PubMed: Wang 2015
index case
-
-
China
-
-
-
-
-
1
LOVD
+?/.
7
c.627del
r.(?)
p.(Ser209Argfs*48)
Unknown
-
likely pathogenic (recessive)
g.35477502del
-
c.627delC
-
TULP1_000125
-
PubMed: Liu-2020
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
hereditary eye disease enrichment panel (HEDEP)
retinal disease
-
PubMed: Liu-2020
-
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.629C>G
r.(?)
p.(Ser210*)
Parent #1
-
likely pathogenic
g.35477500G>C
g.35509723G>C
TULP1, variant 1: c.629C>G/p.S210*, variant 2: c.629C>G/p.S210*
-
TULP1_000157
solved, homozygous
PubMed: Weisschuh 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
RET2 targeted sequencing panel - see paper
retinal disease
221
PubMed: Weisschuh 2020
Filing key number: 77, Leber congenital amaurosis, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
1
LOVD
-?/.
-
c.630A>G
r.(?)
p.(Ser210=)
Unknown
-
likely benign
g.35477499T>C
-
TULP1(NM_003322.5):c.630A>G (p.S210=)
-
TULP1_000111
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.631G>A
r.(?)
p.(Gly211Arg)
Unknown
-
VUS
g.35477498C>T
g.35509721C>T
TULP1(NM_003322.5):c.631G>A (p.G211R)
-
TULP1_000084
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.659C>T
r.(?)
p.(Pro220Leu)
Unknown
ACMG
VUS
g.35477470G>A
g.35509693G>A
TULP1:NM_003322 c.C659T, p.P220L
-
TULP1_000151
heterozygous, individual unsolved, causality of variants unknown
PubMed: Rodriguez-Munoz 2020
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
-
retinal disease
RPN-191
PubMed: Rodriguez-Munoz 2020
-
?
-
Spain
-
-
-
-
-
1
LOVD
+?/?
9i
c.718+2T>C
r.(spl?)
p.?
Both (homozygous)
-
likely pathogenic
g.35477409A>G
g.35509632A>G
c.718+2T>C
-
TULP1_000009
-
PubMed: den Hollander 2007
-
-
Germline
-
-
-
-
-
DNA
arraySNP, PCR, SEQ
-
-
LCA15
-
PubMed: den Hollander 2007
?
F
yes
Afghanistan
-
-
-
-
-
1
Raheel Qamar
+?/?
9i
c.718+2T>C
r.(spl?)
p.?
Both (homozygous)
-
likely pathogenic
g.35477409A>G
g.35509632A>G
c.718+2T>C
-
TULP1_000009
-
PubMed: den Hollander 2007
-
-
Germline
-
-
-
-
-
DNA
arraySNP, PCR, SEQ
-
-
LCA15
-
PubMed: den Hollander 2007
-
M
yes
Afghanistan
-
-
-
-
-
1
Raheel Qamar
+/.
-
c.718+23G>A
r.(=)
p.(=)
Unknown
-
pathogenic
g.35477388C>T
-
TULP1(NM_003322.6):c.718+23G>A
-
TULP1_000096
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.718+23G>A
r.718_719insGTGGATGGCAAGGGCTTCTG
p.(Thr241Glyfs*23)
Maternal (confirmed)
-
likely pathogenic
g.35477388C>T
g.35509611C>T
TULP1 c.718+23G>A
-
TULP1_000096
heterozygous
PubMed: Verbakel 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
-
whole exome sequencing in two siblings in whom a single pathogenic variant in TULP1 was found previously
retinal disease
?
PubMed: Verbakel 2019
-
M
-
Netherlands
-
-
-
-
-
1
LOVD
+?/.
-
c.718+23G>A
r.718_719insGTGGATGGCAAGGGCTTCTG
p.(Thr241Glyfs*23)
Maternal (confirmed)
-
likely pathogenic
g.35477388C>T
g.35509611C>T
TULP1 c.718+23G>A
-
TULP1_000096
heterozygous
PubMed: Verbakel 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
-
whole exome sequencing in two siblings in whom a single pathogenic variant in TULP1 was found previously
retinal disease
?
PubMed: Verbakel 2019
-
F
-
Netherlands
-
-
-
-
-
1
LOVD
-?/?
8i
c.719-19T>A
r.(?)
p.(=)
Both (homozygous)
-
likely benign
g.35477108A>T
g.35509331A>T
IVS7-19T/TTGTTTC->TTGATTC
-
TULP1_000010
-
PubMed: Hagstrom 1998
-
-
Germline
-
-
-
-
-
DNA
SSCA, PCRdig, SEQ, PAGE
-
-
-
-
PubMed: Hagstrom 1998
?
?
?
United States
-
-
-
-
-
1
Raheel Qamar
10 per page
25 per page
50 per page
100 per page
Legend
How to query
« First
Prev
1
2
3
4
5
6
Next
Last »
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our
APIs
to retrieve data.
Powered by
LOVD v.3.0
Build 30b
LOVD software ©2004-2024
Leiden University Medical Center
Database contents © by their respective submitters and curators