Global Variome shared LOVD
RS1 (retinoschisin 1)
LOVD v.3.0 Build 30b [
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Curators:
Johan den Dunnen
and
Markus Preising
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This database is one of the
"Eye disease"
gene variant databases.
The variants shown are described using the NM_000330.3 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
conflicting
association
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arrayMET = array for methylation analysis
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = single molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
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space
Text
Arg Ser
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|
Text
Arg|Ser
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!
Text
!fs
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^
Text
^p.(Arg
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$
Text
Ser)$
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=""
Text
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=""
Text
="p.0"
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!=""
Text
!=""
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!=""
Text
!="p.0"
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combination
Text
*|Ter !fs
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Date
2020
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|
Date
2020-03|2020-04
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!
Date
!2020-03
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<
Date
<2020
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<=
Date
<=2020-06
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>
Date
>2020-06
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>=
Date
>=2020-06-15
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combination
Date
2019|2020 <2020-03
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Numeric
23
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|
Numeric
23|24
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!
Numeric
!23
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<
Numeric
<23
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<=
Numeric
<=23
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>
Numeric
>23
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>=
Numeric
>=23
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combination
Numeric
>=20 <30 !23
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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
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"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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2408 entries on 25 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
+/.
3i_6_
c.(184+1_185-1)_(*2316_?)del
r.?
p.?
Maternal (confirmed)
-
pathogenic (recessive)
g.(?_18657808)_(18665453_18674772)del
g.(?_18639688)_(18647333_18656652)del
ex4-6del
-
RS1_000485
-
PubMed: Gao 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
Fam23
PubMed: Gao 2021
family, unaffected carrier mother
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+?/.
5i_6_
c.(522+1_523-1)_(*2316_?)del
r.spl
p.(?)
Parent #1
-
likely pathogenic
g.(?_18657808)_(18660277_18662549)del
g.(?_18639688)_(18642157_18644429)del
RS1, variant 1 :Deletion exon 6
-
RS1_000011
solved, hemizygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
Sanger sequencing
retinal disease
170
PubMed: Weisschuh 2020
Filing key number: 67, retinoschisis, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
1
LOVD
+?/.
5i_6_
c.(522+1_523-1)_(*2316_?)del
r.spl
p.(?)
Parent #1
-
likely pathogenic
g.(?_18657808)_(18660277_18662549)del
g.(?_18639688)_(18642157_18644429)del
RS1, variant 1 :Deletion exon 6
-
RS1_000011
solved, hemizygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
MLPA
blood
MLPA
retinal disease
171
PubMed: Weisschuh 2020
Filing key number: 67, retinoschisis, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
1
LOVD
+/.
_1_1i
c.-2577_52+260del
r.0?
p.0?
Maternal (confirmed)
-
pathogenic (recessive)
g.18689879_18692767del
g.18671759_18674647del
[-5303_-3784del; -2579_52+258del]
-
RS1_000198
fragment cloned
PubMed: Huopaniemi 2000
-
-
Germline
yes
-
-
-
-
DNA
PCR, Southern
-
-
RS1
FamRS305
PubMed: Huopaniemi 2000
multi-generation family, 17 affected males
M
no
Denmark
-
-
-
-
-
17
Johan den Dunnen
+?/.
_1_1i
c.-1758_52+2664del
r.0?
p.0?
Unknown
-
likely pathogenic
g.18687473_18691946del
g.18669353_18673826del
c.(-35)-1723_c.51+2664del4472
-
RS1_000324
error in annotation, exon 1 is ending on nucleotide 52
PubMed: D'Souza
-
-
Unknown
?
-
-
-
-
DNA
SEQ
-
-
retinal disease
645
PubMed: D�Souza
Patient #645
M
-
(United States)
-
-
-
-
-
1
LOVD
+/.
_1_1i
c.-1492_53-421del
r.0?
p.0?
Maternal (inferred)
ACMG
pathogenic
g.18676206_18691680del
g.18658086_18673560del
del ex1
-
RS1_000422
-
PubMed: Chen 2020
-
-
Germline/De novo (untested)
?
1/90 cases RS
-
-
-
DNA
SEQ, SEQ-NG
blood
Sanger-DNA sequencing of RS1 and targeted next-generation sequencing
retinal disease
1
PubMed: Chen 2020
no patient numbering in the paper, numbers given consecutively; actual number in table does not match number of patients in text (91 vs 90)
M
-
China
-
-
-
-
-
1
LOVD
?/.
1
c.(?_-473)_(17+1_?)del
r.(?)
p.?
Unknown
-
VUS
g.18690171_18690661del
-
exon 1 deletion
-
RS1_000278
Check also: Bowles 2011
PubMed: Avela 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
-
PubMed: Avela 2019
-
-
-
Finland
Finnish
-
-
-
-
1
LOVD
+?/.
_1_1i
c.(?_-35)_(52+1_53-1)del
r.0?
p.0?
Maternal (inferred)
-
likely pathogenic
g.(18675786_18690136)_(18690223_?)del
g.(18657666_18672016)_(18672103_?)del
Exon 1 deletion
-
RS1_000010
-
PubMed: Sergeev 2013
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
-
retinal disease
13
PubMed: Sergeev 2013
patient ID ascribed consecutively (no ID in the paper)
M
-
(United Kingdom (Great Britain))
-
-
-
-
-
1
LOVD
+?/.
_1_1i
c.(?_-35)_(52+1_53-1)del
r.0?
p.0?
Maternal (inferred)
-
likely pathogenic
g.(18675786_18690136)_(18690223_?)del
g.(18657666_18672016)_(18672103_?)del
Exon 1 deletion
-
RS1_000010
-
PubMed: Sergeev 2013
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
-
retinal disease
15
PubMed: Sergeev 2013
patient ID ascribed consecutively (no ID in the paper)
M
-
(United Kingdom (Great Britain))
-
-
-
-
-
1
LOVD
+?/.
_1_1i
c.(?_-35)_(52+1_53-1)del
r.0?
p.0?
Maternal (inferred)
-
likely pathogenic
g.(18675786_18690136)_(18690223_?)del
g.(18657666_18672016)_(18672103_?)del
Exon 1 deletion
-
RS1_000010
-
PubMed: Sergeev 2013
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
-
retinal disease
19
PubMed: Sergeev 2013
patient ID ascribed consecutively (no ID in the paper)
M
-
(United Kingdom (Great Britain))
-
-
-
-
-
1
LOVD
+?/.
_1_1i
c.(?_-35)_(52+1_53-1)del
r.0?
p.0?
Maternal (inferred)
-
likely pathogenic
g.(18675786_18690136)_(18690223_?)del
g.(18657666_18672016)_(18672103_?)del
Exon 1 deletion
-
RS1_000010
-
PubMed: Sergeev 2013
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
-
retinal disease
20
PubMed: Sergeev 2013
patient ID ascribed consecutively (no ID in the paper)
M
-
(United Kingdom (Great Britain))
-
-
-
-
-
1
LOVD
+?/.
_1_1i
c.(?_-35)_(52+1_53-1)del
r.0?
p.0?
Maternal (inferred)
-
likely pathogenic
g.(18675786_18690136)_(18690223_?)del
g.(18657666_18672016)_(18672103_?)del
Exon 1 deletion
-
RS1_000010
-
PubMed: Sergeev 2013
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
-
retinal disease
23
PubMed: Sergeev 2013
patient ID ascribed consecutively (no ID in the paper)
M
-
(United Kingdom (Great Britain))
-
-
-
-
-
1
LOVD
+?/.
_1_1i
c.(?_-35)_(52+1_53-1)del
r.0?
p.0?
Maternal (inferred)
-
likely pathogenic
g.(18675786_18690136)_(18690223_?)del
g.(18657666_18672016)_(18672103_?)del
exon 1 deletion
-
RS1_000010
-
PubMed: Pennesi 2018
-
-
Unknown
?
-
-
-
-
DNA
?
-
-
retinal disease
CEI-017
PubMed: Pennesi 2018
-
M
-
United States
-
-
-
-
-
1
LOVD
+?/.
_1_1i
c.(?_-35)_(52+1_53-1)del
r.0?
p.0?
Maternal (inferred)
-
likely pathogenic
g.(18675786_18690136)_(18690223_?)del
g.(18657666_18672016)_(18672103_?)del
exon 1 deletion
-
RS1_000010
-
PubMed: Pennesi 2018
-
-
Unknown
?
-
-
-
-
DNA
?
-
-
retinal disease
KEC-016
PubMed: Pennesi 2018
-
M
-
United States
-
-
-
-
-
1
LOVD
+?/.
_1_1i
c.(?_-35)_(52+1_53-1)del
r.0?
p.0?
Maternal (inferred)
-
likely pathogenic
g.(18675786_18690136)_(18690223_?)del
g.(18657666_18672016)_(18672103_?)del
exon 1 deletion
-
RS1_000010
-
PubMed: Pennesi 2018
-
-
Unknown
?
-
-
-
-
DNA
?
-
-
retinal disease
RFS-324
PubMed: Pennesi 2018
-
M
-
United States
-
-
-
-
-
1
LOVD
?/.
_1_2i
c.(?_-35)_(78+1_79-1)del
r.0?
p.0?
Maternal (inferred)
-
VUS
g.(18674879_18675759)_(18690223_?)del
g.(18656759_18657639)_(18672103_?)del
RS1 nucleotide 1, protein 1:exon1del, p.?
-
RS1_000307
hemizygous, ACMG unclassified - no access to supplementary table 2
PubMed: Hull 2020
-
-
Germline
?
-
-
-
-
DNA
?
blood
NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families
retinal disease
1
PubMed: Hull 2020
-
-
-
New Zealand
white
-
-
-
-
1
LOVD
?/.
_1_2i
c.(?_-35)_(78+1_79-1)del
r.0?
p.0?
Maternal (inferred)
-
VUS
g.(18674879_18675759)_(18690223_?)del
g.(18656759_18657639)_(18672103_?)del
RS1 nucleotide 1, protein 1:exon1del, p.?
-
RS1_000307
hemizygous, ACMG unclassified - no access to supplementary table 2
PubMed: Hull 2020
-
-
Germline
?
-
-
-
-
DNA
?
blood
NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families
retinal disease
2
PubMed: Hull 2020
-
-
-
New Zealand
Maori
-
-
-
-
1
LOVD
+?/.
_1_3i
c.(?_-35)_(184+1_185-1)del
r.0?
p.0?
Maternal (inferred)
-
likely pathogenic (maternal)
g.(18665453_18674772)_(18690223_?)del
g.(18647333_18656652)_(18672103_?)del
E1-3del
-
RS1_000123
-
PubMed: Liu-2020
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG, PCRq
-
hereditary eye disease enrichment panel (HEDEP), quantitative fluorescence PCR (QF-PCR)
retinal disease
-
PubMed: Liu-2020
-
M
-
-
-
-
-
-
-
1
LOVD
+/.
_1_1i
c.(?_-35)_(52+1_53-1)del
r.0?
p.0?
Unknown
-
pathogenic (recessive)
g.(18675786_18690136)_(18690223_?)del
g.(18657666_18672016)_(18672103_?)del
(?_1-1)_(52+1_53-1)del
-
RS1_000010
-
PubMed: Georgiou 2022
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
-
PubMed: Georgiou 2022
family, 1 affected
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_1i
c.(?_-35)_(52+1_53-1)del
r.0?
p.0?
Unknown
-
pathogenic (recessive)
g.(18675786_18690136)_(18690223_?)del
g.(18657666_18672016)_(18672103_?)del
(?_1-1)_(52+1_53-1)del
-
RS1_000010
-
PubMed: Georgiou 2022
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
-
PubMed: Georgiou 2022
family, 1 affected
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_1i
c.(?_-35)_(52+1_53-1)del
r.0?
p.0?
Unknown
-
pathogenic (recessive)
g.(18675786_18690136)_(18690223_?)del
g.(18657666_18672016)_(18672103_?)del
(?_1-1)_(52+1_53-1)del
-
RS1_000010
-
PubMed: Georgiou 2022
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
-
PubMed: Georgiou 2022
family, 1 affected
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_1i
c.(?_-35)_(52+1_53-1)del
r.0?
p.0?
Unknown
-
pathogenic (recessive)
g.(18675786_18690136)_(18690223_?)del
g.(18657666_18672016)_(18672103_?)del
(?_1-1)_(52+1_53-1)del
-
RS1_000010
-
PubMed: Georgiou 2022
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
-
PubMed: Georgiou 2022
family, 1 affected
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_1i
c.(?_-35)_(52+1_53-1)del
r.0?
p.?
Unknown
ACMG
pathogenic (recessive)
g.(18675786_18690136)_(18690223_?)del
g.(18657666_18672016)_(18672103_?)del
del ex1, (1-?_52+?)del
-
RS1_000010
ACMG PVS1, PS4, PM2, PP4
PubMed: Bender 2022
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
Var106.1
PubMed: Bender 2022
proband
M
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_1i
c.(?_-35)_(52+1_53-1)del
r.0?
p.?
Unknown
ACMG
pathogenic (recessive)
g.(18675786_18690136)_(18690223_?)del
g.(18657666_18672016)_(18672103_?)del
del ex4-5, (185-?_522+?)del
-
RS1_000010
ACMG PVS1, PS4, PM2, PP4
PubMed: Bender 2022
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
Var106.2
PubMed: Bender 2022
proband
M
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_1i
c.(?_-35)_(52+1_53-1)del
r.0?
p.?
Unknown
ACMG
pathogenic (recessive)
g.(18675786_18690136)_(18690223_?)del
g.(18657666_18672016)_(18672103_?)del
del ex1-4, (1-?_326+?)del
-
RS1_000010
ACMG PVS1, PS4, PM2, PP4
PubMed: Bender 2022
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
Var106.3
PubMed: Bender 2022
proband
M
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_1i
c.(?_-35)_(52+1_53-1)del
r.0?
p.?
Unknown
ACMG
pathogenic (recessive)
g.(18675786_18690136)_(18690223_?)del
g.(18657666_18672016)_(18672103_?)del
[35T>A;52+5G>C]
-
RS1_000010
ACMG PVS1, PS4, PM2, PP4
PubMed: Bender 2022
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
Var106.4
PubMed: Bender 2022
proband
M
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_3i
c.(?_-35)_(184+1_185-1)del
r.0?
p.0?
Maternal (confirmed)
-
pathogenic (recessive)
g.(18665453_18674772)_(18779695_18797127)del
g.(18647333_18656652)_(18761577_18779009)del
ex1-3del
-
RS1_000123
-
PubMed: Gao 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
Fam13
PubMed: Gao 2021
family, unaffected carrier mother
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_4i
c.(?_-35)_(326+1_327-1)del
r.0?
p.?
Unknown
ACMG
pathogenic (recessive)
g.(18665453_18674772)_(18690223_?)del
g.(18647333_18656652)_(18672103_?)del
-
-
RS1_000123
ACMG PVS1, PM2, PP4
PubMed: Bender 2022
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
Var108
PubMed: Bender 2022
proband
M
-
-
-
-
-
-
-
1
Johan den Dunnen
+?/.
_1_6_
c.(?_-35)_(*2316_?)del
r.0
p.0
Parent #1
-
likely pathogenic
g.(?_18657808)_(18690223_?)del
g.(?_18639688)_(18672103_?)del
170bp deletion Xp22.13
-
RS1_000000
-
PubMed: Holtan 2020
-
-
Germline
-
1/899 cases
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Holtan 2020
1 patient with variant in heterozygous or compound heterozygous form
-
-
Norway
-
-
-
-
-
1
Global Variome, with Curator vacancy
+?/.
_1_6_
c.(?_-35)_(*2316_?)del
r.0
p.0
Unknown
-
likely pathogenic
g.(?_18657808)_(18690223_?)del
g.(?_18639688)_(18672103_?)del
-
-
RS1_000023
large deletion chrX (p22.2-p22.13) including OFD1 and RS1
PubMed: Bravo-Gil 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
68-gene panel
retinal disease
Pat65
PubMed: Bravo-Gil 2017
patient
F
-
Spain
-
-
-
-
-
1
Nereida Bravo Gil
+/.
_1_1i
c.(?_-35)_(52+1_53-1)del
r.0?
p.0?
Maternal (inferred)
-
pathogenic
g.(18675786_18690136)_(18690223_?)del
g.(18657666_18672016)_(18672103_?)del
-
-
RS1_000010
deletion upto 1 kb 5' ATG
PubMed: Hiriyanna 1999
,
PubMed: Eksandh 2000
,
PubMed: Eksandh 2005
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
RS1
-
PubMed: Hiriyanna 1999
,
PubMed: Eksandh 2000
,
PubMed: Eksandh 2005
14 affecteds
M
-
Sweden
-
-
-
-
-
14
Johan den Dunnen
+/.
_1_1i
c.(?_-35)_(52+1_53-1)del
r.0?
p.0?
Maternal (inferred)
-
pathogenic
g.(18675786_18690136)_(18690223_?)del
g.(18657666_18672016)_(18672103_?)del
-
-
RS1_000010
-
PubMed: RS-consortium 1998, group 4
-
-
Germline
-
-
-
-
-
DNA
Southern
-
-
RS1
-
PubMed: RS-consortium 1998, group 4
-
?
-
Denmark
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_1i
c.(?_-35)_(52+1_53-1)del
r.0?
p.0?
Maternal (inferred)
-
pathogenic
g.(18675786_18690136)_(18690223_?)del
g.(18657666_18672016)_(18672103_?)del
-
-
RS1_000010
-
PubMed: RS-consortium 1998, group 4
-
-
Germline
-
-
-
-
-
DNA
Southern
-
-
RS1
-
PubMed: RS-consortium 1998, group 4
-
?
-
Denmark
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_1i
c.(?_-35)_(52+1_53-1)del
r.0?
p.0?
Maternal (inferred)
-
pathogenic
g.(18675786_18690136)_(18690223_?)del
g.(18657666_18672016)_(18672103_?)del
-
-
RS1_000010
-
PubMed: RS-consortium 1998, group 4
-
-
Germline
-
-
-
-
-
DNA
Southern
-
-
RS1
-
PubMed: RS-consortium 1998, group 4
-
?
-
Denmark
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_1i
c.(?_-35)_(52+1_53-1)del
r.0?
p.0?
Maternal (inferred)
-
pathogenic
g.(18675786_18690136)_(18690223_?)del
g.(18657666_18672016)_(18672103_?)del
del ex1
-
RS1_000010
-
PubMed: Mashima 1999
,
PubMed: Shinoda 2000
-
-
Germline
-
-
-
-
-
DNA
SSCA
-
-
RS1
?;Pat2
PubMed: Mashima 1999
,
PubMed: Shinoda 2000
-
M
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_1i
c.(?_-35)_(52+1_53-1)del
r.0?
p.0?
Maternal (inferred)
-
pathogenic
g.(18675786_18690136)_(18690223_?)del
g.(18657666_18672016)_(18672103_?)del
del ex1
-
RS1_000010
-
PubMed: Shinoda 2000
-
-
Germline
-
-
-
-
-
DNA
SSCA
-
-
RS1
Pat1
PubMed: Shinoda 2000
-
M
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_1i
c.(?_-35)_(52+1_53-1)del
r.0?
p.0?
Maternal (inferred)
-
pathogenic
g.(18675786_18690136)_(18690223_?)del
g.(18657666_18672016)_(18672103_?)del
-
-
RS1_000010
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
-
-
-
?
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Dorothy Trump
+/.
_1_1i
c.(?_-35)_(52+1_53-1)del
r.0?
p.0?
Maternal (inferred)
-
pathogenic
g.(18675786_18690136)_(18690223_?)del
g.(18657666_18672016)_(18672103_?)del
-
-
RS1_000010
-
PubMed: RS-consortium 1998, group 4
-
-
Germline
-
-
-
-
-
DNA
Southern
-
-
RS1
-
PubMed: RS-consortium 1998, group 4
-
?
-
Denmark
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_3i
c.(?_-35)_(184+1_185-1)del
r.0?
p.0?
Maternal (inferred)
-
pathogenic
g.(18665453_18674772)_(18690223_?)del
g.(18647333_18656652)_(18672103_?)del
-
-
RS1_000123
-
PubMed: Yu 2001
-
-
Germline
-
-
-
-
-
DNA
PCR, Southern
-
-
RS1
-
PubMed: Yu 2001
-
?
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_3i
c.(?_-35)_(184+1_185-1)del
r.0?
p.0?
Maternal (confirmed)
-
pathogenic (recessive)
g.(18665453_18674772)_(18779695_18797127)del
g.(18647333_18656652)_(18761577_18779009)del
-
-
RS1_000123
136 kb deletion from PPEF intron 9 to RS1 intron 3 also involving CDKL5 (STK9)
PubMed: Huopaniemi
-
-
Germline
yes
-
-
-
-
DNA
PCR, Southern
-
-
RS1
FamRS315
PubMed: Huopaniemi 2000
family, 2 affected sibs
M
no
Denmark
-
-
-
-
-
2
Johan den Dunnen
?/.
_1
-
r.?
p.?
Maternal (confirmed)
-
VUS
g.18693972_18695491del
g.18675852_18677371del
[-5303_-3784del;-2579_52+258del]
-
RS1_000308
fragment cloned
PubMed: Huopaniemi 2000
-
-
Germline
-
-
-
-
-
DNA
PCR, Southern
-
-
RS1
FamRS305
PubMed: Huopaniemi 2000
multi-generation family, 17 affected males
M
no
Denmark
-
-
-
-
-
17
Johan den Dunnen
+?/.
_1_1i
c.(?_-35)_(52+1_53-1)del
r.0?
p.0?
Unknown
-
likely pathogenic
g.(18675786_18690136)_(18690223_?)del
g.(18657666_18672016)_(18672103_?)del
del ex1
-
RS1_000010
-
PubMed: Chen 2014
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
113040
PubMed: Chen 2014
-
M
-
China
-
-
-
-
-
1
LOVD
+?/.
_1_1i
c.(?_-35)_(52+1_53-1)del
r.0?
p.0?
Maternal (inferred)
-
likely pathogenic
g.(18675786_18690136)_(18690223_?)del
g.(18657666_18672016)_(18672103_?)del
del ex1
-
RS1_000010
-
PubMed: Fahim 2017
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
?
-
retrospective study
retinal disease
1
PubMed: Fahim 2017
no patient numbers in paper, consecutive numbers given
M
-
-
-
-
-
-
-
1
LOVD
+?/.
_1_1i
c.(?_-35)_(52+1_53-1)del
r.0?
p.0?
Maternal (inferred)
-
likely pathogenic
g.(18675786_18690136)_(18690223_?)del
g.(18657666_18672016)_(18672103_?)del
RS1 exon1 deletion
-
RS1_000010
-
PubMed: Avela 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ, MLPA
-
targeted gene analysis or a next-generation sequencing-based gene panel
retinal disease
53
PubMed: Avela 2019
-
?
-
Finland
-
-
-
-
-
1
LOVD
+/.
_1_6_
c.=
r.(=)
p.(=)
Parent #1
-
NA
g.=
-
-
-
RS1_000000
expression construct in pcDNA3.1, COS-7 cell expression
-
-
-
In vitro (cloned)
-
-
-
-
-
DNA
SEQ
?
-
cancer, breast
-
-
-
-
?
Netherlands
-
-
-
-
-
1
Annemarie H van der Hout
+/.
_1_1i
c.(?_-35)_(52+1_53-1)del
r.0?
p.0?
Maternal (inferred)
-
pathogenic
g.(18675786_18690136)_(18690223_?)del
g.(18657666_18672016)_(18672103_?)del
-
-
RS1_000010
deletion upto 1 kb 5' ATG
PubMed: Chan 2004
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
-
PubMed: Chan 2004
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_1i
c.(?_-35)_(52+1_53-1)del
r.0?
p.0?
Maternal (inferred)
-
pathogenic
g.(18675786_18690136)_(18690223_?)del
g.(18657666_18672016)_(18672103_?)del
-
-
RS1_000010
-
PubMed: Tsang 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
-
PubMed: Tsang 2007
-
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_1i
c.(?_-35)_(52+1_53-1)del
r.0?
p.0?
Maternal (inferred)
-
pathogenic
g.(18675786_18690136)_(18690223_?)del
g.(18657666_18672016)_(18672103_?)del
-
-
RS1_000010
-
PubMed: Renner 2008
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
-
PubMed: Renner 2008
-
M
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.1A>G
r.(?)
p.(Met1?)
Maternal (inferred)
-
pathogenic
g.18690188T>C
g.18672068T>C
-
-
RS1_000093
-
PubMed: Mashima 1999
-
-
Germline
-
-
-MboII
-
-
DNA
SSCA
-
-
RS1
-
PubMed: Mashima 1999
-
M
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.1A>G
r.(?)
p.(Met1?)
Maternal (inferred)
-
pathogenic (recessive)
g.18690188T>C
g.18672068T>C
-
-
RS1_000093
-
PubMed: Shinoda 2000
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
RS1
Pat3
PubMed: Shinoda 2000
-
M
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.1A>T
r.(?)
p.(Met1?)
Maternal (inferred)
-
pathogenic
g.18690188T>A
g.18672068T>A
-
-
RS1_000160
not in 100 control chromosomes
PubMed: Kim 2006
-
-
Germline
-
-
-MboII
-
-
DNA
SEQ
-
-
RS1
-
PubMed: Kim 2006
five affecteds (4 brothers and uncle)
M
-
United States
-
-
-
-
-
5
Johan den Dunnen
+?/.
1
c.1A>T
r.(?)
p.(Met1?)
Unknown
-
likely pathogenic
g.18690188T>A
g.18672068T>A
-
-
RS1_000160
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
954
PubMed: Stone 2017
1 affected
M
-
(United States)
-
-
-
-
-
1
LOVD
+?/.
1
c.1A>T
r.0?
p.(Met1?)
Maternal (inferred)
-
likely pathogenic
g.18690188T>A
g.18672068T>A
RS1 c.1A>T, p.Met1Leu
-
RS1_000160
-
PubMed: Vijayasarathy 2010
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
-
retinal disease
1
PubMed: Vijayasarathy 2010
-
M
-
(United States)
-
-
-
-
-
1
LOVD
+?/.
-
c.1A>T
r.0?
p.(Met1?)
Maternal (inferred)
-
likely pathogenic
g.18690188T>A
g.18672068T>A
c.1A>T, p.Met1Lle
-
RS1_000160
error in annotation initiation codon mutations should be annotated p.Met1?
PubMed: Pennesi 2018
-
-
Unknown
?
-
-
-
-
DNA
?
-
-
retinal disease
RFS-304
PubMed: Pennesi 2018
-
M
-
United States
-
-
-
-
-
1
LOVD
+?/.
-
c.1A>T
r.0?
p.(Met1?)
Maternal (inferred)
-
likely pathogenic
g.18690188T>A
g.18672068T>A
c.1A>T, p.Met1Lle
-
RS1_000160
error in annotation initiation codon mutations should be annotated p.Met1?
PubMed: Pennesi 2018
-
-
Unknown
?
-
-
-
-
DNA
?
-
-
retinal disease
RFS-316
PubMed: Pennesi 2018
-
M
-
United States
-
-
-
-
-
1
LOVD
+/.
1
c.1A>T
r.(?)
p.(Met1?)
Unknown
ACMG
pathogenic (recessive)
g.18690188T>A
g.18672068T>A
[35T>A;52+5G>C]
-
RS1_000160
ACMG PVS1, PS4, PM2, PS3>M, PP3, PP4
PubMed: Bender 2022
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
Var1.1
PubMed: Bender 2022
proband
M
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.1A>T
r.(?)
p.(Met1?)
Unknown
ACMG
pathogenic (recessive)
g.18690188T>A
g.18672068T>A
[35T>A;52+5G>C]
-
RS1_000160
ACMG PVS1, PS4, PM2, PS3>M, PP3, PP4
PubMed: Bender 2022
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
Var1.2
PubMed: Bender 2022
proband
M
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.1A>T
r.(?)
p.(Met1?)
Unknown
ACMG
pathogenic (recessive)
g.18690188T>A
g.18672068T>A
[35T>A;52+5G>C]
-
RS1_000160
ACMG PVS1, PS4, PM2, PS3>M, PP3, PP4
PubMed: Bender 2022
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
Var1.3
PubMed: Bender 2022
proband
M
-
-
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.2T>A
r.(?)
p.?
Unknown
-
likely pathogenic
g.18690187A>T
-
-
-
RS1_000429
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.2T>C
r.(?)
p.(Met1?)
Unknown
-
likely pathogenic
g.18690187A>G
-
-
-
RS1_000419
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.2T>C
r.(?)
p.(Met1?)
Maternal (inferred)
-
pathogenic
g.18690187A>G
g.18672067A>G
-
-
RS1_000419
-
PubMed: RS-consortium 1998, group 5
-
-
Germline
-
-
-
-
-
DNA
Southern
-
-
RS1
-
PubMed: RS-consortium 1998, group 5
-
?
-
Netherlands
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.3G>A
r.(?)
p.(Met1?)
Maternal (inferred)
-
likely pathogenic
g.18690186C>T
g.18672066C>T
c.3G> A (p.M1) in the RS1 gene
-
RS1_000408
-
PubMed: Xiao 2016
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
IV-3
PubMed: Xiao 2016
proband
M
-
China
-
-
-
-
-
1
LOVD
+?/.
-
c.3G>A
r.(?)
p.(Met1?)
Maternal (inferred)
-
likely pathogenic
g.18690186C>T
g.18672066C>T
c.3G> A (p.M1) in the RS1 gene
-
RS1_000408
-
PubMed: Xiao 2016
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
IV-4
PubMed: Xiao 2016
proband's brother
M
-
China
-
-
-
-
-
1
LOVD
+?/.
-
c.3G>A
r.(?)
p.(Met1?)
Maternal (inferred)
-
likely pathogenic
g.18690186C>T
g.18672066C>T
c.3G> A (p.M1) in the RS1 gene
-
RS1_000408
-
PubMed: Xiao 2016
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
IV-1
PubMed: Xiao 2016
proband's maternal cousin
M
-
China
-
-
-
-
-
1
LOVD
+?/.
-
c.3G>A
r.(?)
p.(Met1?)
Maternal (inferred)
-
likely pathogenic
g.18690186C>T
g.18672066C>T
c.3G> A (p.M1) in the RS1 gene
-
RS1_000408
-
PubMed: Xiao 2016
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
III-2
PubMed: Xiao 2016
proband's mother's paternal cousin
M
-
China
-
-
-
-
-
1
LOVD
+?/.
-
c.3G>A
r.(?)
p.(Met1?)
Maternal (inferred)
-
likely pathogenic
g.18690186C>T
g.18672066C>T
c.3G> A (p.M1) in the RS1 gene
-
RS1_000408
-
PubMed: Xiao 2016
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
II-4
PubMed: Xiao 2016
proband's maternal grandfather
M
-
China
-
-
-
-
-
1
LOVD
+/.
-
c.3G>A
r.(?)
p.(Met1?)
Unknown
ACMG
pathogenic (recessive)
g.18690186C>T
g.18672066C>T
-
-
RS1_000408
ACMG PS1, PP4, PP5, PM2, PM3
PubMed: D'Anna Mardero 2024
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
RS1
Pat6
PubMed: D'Anna Mardero 2024
patient, no family history
M
-
Spain
Europe
-
-
-
-
1
Johan den Dunnen
+?/.
1
c.3G>T
r.(?)
p.(Met1?)
Unknown
-
likely pathogenic
g.18690186C>A
-
-
-
RS1_000289
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.3G>T
r.(?)
p.(Met1?)
Unknown
-
pathogenic (recessive)
g.18690186C>A
g.18672066C>A
(Met1Ile)
-
RS1_000289
-
PubMed: Hahn 2022
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
Var4
PubMed: Hahn 2022
7 patients
M
-
(Belgium);(Netherlands)
-
-
-
-
-
7
Johan den Dunnen
+/.
_1_1i
c.(-63_3)_(52+3913_52+4861)del
r.0?
p.0?
Unknown
-
pathogenic (recessive)
g.(18685276_18686224)_(18690186_18690251)del
g.(18667156_18668104)_(18672066_18672131)del
-
arr[GRCh37] Xp22.13(18685276x1,18686224_18690186x0,18690251x1)
RS1_000480
-
PubMed: Fortunato 2023
-
-
Germline
-
-
-
-
-
DNA
arrayCGH, SEQ
-
-
RS1
Fam7Pat9
PubMed: Fortunato 2023
family, 2 affected
M
-
Italy
-
-
-
-
-
2
Johan den Dunnen
+/.
_1_1i
c.(-63_3)_(52+3913_52+4861)del
r.0?
p.0?
Unknown
-
pathogenic (recessive)
g.(18685276_18686224)_(18690186_18690251)del
g.(18667156_18668104)_(18672066_18672131)del
-
arr[GRCh37] Xp22.13(18685276x1,18686224_18690186x0,18690251x1)
RS1_000480
-
PubMed: Fortunato 2023
-
-
Germline
-
-
-
-
-
DNA
arrayCGH, SEQ
-
-
RS1
Fam7Pat10
PubMed: Fortunato 2023
relative
M
-
Italy
-
-
-
-
-
1
Johan den Dunnen
-?/.
1
c.7C>G
r.(?)
p.(Arg3Gly)
Unknown
-
likely benign
g.18690182G>C
g.18672062G>C
RS1(NM_000330.3):c.7C>G (p.(Arg3Gly))
-
RS1_000219
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.7C>G
r.(?)
p.(Arg3Gly)
Maternal (confirmed)
-
pathogenic (recessive)
g.18690182G>C
g.18672062G>C
-
-
RS1_000219
-
PubMed: Chowdury 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
Pat2
PubMed: Chowdury 2024
2-generation family, 1 affected, unaffected carrier mother
M
yes
India
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.14del
r.(?)
p.(Ile5LysfsTer121)
Maternal (confirmed)
-
likely pathogenic (recessive)
g.18690175del
g.18672055del
14delT
-
RS1_000511
-
PubMed: Gao 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
Fam5
PubMed: Gao 2021
family, unaffected carrier mother
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.20del
r.(?)
p.(Gly7AlafsTer119)
Maternal (confirmed)
-
pathogenic (recessive)
g.18690170del
g.18672050del
-
-
RS1_000482
-
PubMed: Kousal 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
Fam1PatIII1
PubMed: Kousal 2021
3-generation family, 2 affected
M
-
Czech Republic
-
-
-
-
-
2
Johan den Dunnen
+/.
-
c.20del
r.(?)
p.(Gly7AlafsTer119)
Maternal (confirmed)
-
pathogenic (recessive)
g.18690170del
g.18672050del
-
-
RS1_000482
-
PubMed: Kousal 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
Fam1PatIII2
PubMed: Kousal 2021
cousin
M
-
Czech Republic
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.20del
r.(?)
p.(Gly7AlafsTer119)
Unknown
-
pathogenic (recessive)
g.18690170del
g.18672050del
-
-
RS1_000482
-
PubMed: Kousal 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
Fam2PatII1
PubMed: Kousal 2021
2-generation family, 1 affected
M
-
Czech Republic
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.20del
r.(?)
p.(Gly7AlafsTer119)
Unknown
-
pathogenic (recessive)
g.18690170del
g.18672050del
-
-
RS1_000482
ACMG PVS1, PM2, PP3, PP4
PubMed: Georgiou 2022
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
-
PubMed: Georgiou 2022
patient
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.26del
r.(?)
p.(Leu9Cysfs*117)
Maternal (confirmed)
-
pathogenic
g.18690167del
g.18672047del
-
-
RS1_000162
-
PubMed: Li 2007
,
PubMed: Ma 2008
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
-
PubMed: Li 2007
,
PubMed: Ma 2008
4-generation family, 4 affecteds, 11 carriers
M
-
China
-
-
-
-
-
15
Johan den Dunnen
+?/.
1
c.26T>A
r.(?)
p.(Leu9*)
Unknown
-
likely pathogenic
g.18690163A>T
g.18672043A>T
c.26A>T, p.(Leu9*)
-
RS1_000296
error in annotation: c.26A>T instead of T>A, hemizygous
PubMed: Wang 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
panel of 126 genes
retinal disease
13749
PubMed: Wang 2019
-
M
-
China
-
-
-
-
-
1
LOVD
+/.
1
c.33_36del
r.(?)
p.(Leu11Phefs*114)
Maternal (inferred)
-
pathogenic
g.18690155_18690158del
g.18672035_18672038del
-
-
RS1_000012
-
PubMed: RS-consortium 1998, group 5
-
-
Germline
-
-
-
-
-
DNA
SSCA
-
-
RS1
-
PubMed: RS-consortium 1998, group 5
-
?
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+?/.
1
c.33_36del
r.(?)
p.(Leu11Phefs*114)
Parent #1
-
likely pathogenic
g.18690155_18690158del
g.18672035_18672038del
RS1, variant 1: c.33_36del/p.L11Ffs*114
-
RS1_000012
solved, hemizygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
Sanger sequencing
retinal disease
187
PubMed: Weisschuh 2020
Filing key number: 70, retinoschisis, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
1
LOVD
+/.
1
c.33_36del
r.(?)
p.(Leu11Phefs*114)
Maternal (inferred)
-
pathogenic
g.18690155_18690158del
g.18672035_18672038del
-
-
RS1_000012
-
PubMed: RS-consortium 1998, group 3
-
-
Germline
-
-
-
-
-
DNA
Southern
-
-
RS1
-
PubMed: RS-consortium 1998, group 3
-
?
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.33_36del
r.(?)
p.(Leu11PhefsTer114)
Maternal (confirmed)
-
pathogenic (recessive)
g.18690155_18690158del
g.18672035_18672038del
-
-
RS1_000012
-
PubMed: Kousal 2021
ClinVar-000098944.7
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
Fam3PatIII2
PubMed: Kousal 2021
3-generation family, 2 affected
M
-
Czech Republic
-
-
-
-
-
2
Johan den Dunnen
+/.
-
c.33_36del
r.(?)
p.(Leu11PhefsTer114)
Maternal (confirmed)
-
pathogenic (recessive)
g.18690155_18690158del
g.18672035_18672038del
-
-
RS1_000012
-
PubMed: Kousal 2021
ClinVar-000098944.7
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
Fam3PatII4
PubMed: Kousal 2021
uncle
M
-
Czech Republic
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.33_36del
r.(?)
p.(Leu11PhefsTer114)
Unknown
-
pathogenic (recessive)
g.18690155_18690158del
g.18672035_18672038del
-
-
RS1_000012
-
PubMed: Kousal 2021
ClinVar-000098944.7
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
Fam4PatII1
PubMed: Kousal 2021
2-generation family, 1 affected
M
-
Czech Republic
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.33_36del
r.(?)
p.(Leu11PhefsTer114)
Maternal (confirmed)
-
pathogenic (recessive)
g.18690155_18690158del
g.18672035_18672038del
-
-
RS1_000012
-
PubMed: Kousal 2021
ClinVar-000098944.7
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
Fam15PatII1
PubMed: Kousal 2021
2-generation family, 1 affected, unaffected carrier mother
M
-
Czech Republic
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.34_35insGATA
r.(?)
p.(Leu12ArgfsTer7)
Unknown
ACMG
likely pathogenic (recessive)
g.18690154_18690155insTATC
g.18672034_18672035insTATC
-
-
RS1_000481
ACMG PVS1, PP4, PM2
PubMed: D'Anna Mardero 2024
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
RS1
Pat8
PubMed: D'Anna Mardero 2024
patient, no family history
M
-
Spain
Europe
-
-
-
-
1
Johan den Dunnen
?/.
1
c.35T>A
r.(?)
p.(Leu12His)
Maternal (inferred)
-
VUS
g.18690154A>T
g.18672034A>T
-
-
RS1_000016
-
PubMed: RS-consortium 1998, group 3
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
-
PubMed: RS-consortium 1998, group 3
-
?
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.35T>A
r.(?)
p.(Leu12His)
Maternal (inferred)
-
pathogenic
g.18690154A>T
g.18672034A>T
-
-
RS1_000016
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
-
-
-
?
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Dorothy Trump
+/.
1
c.35T>A
r.(?)
p.(Leu12His)
Parent #1
-
NA
g.18690154A>T
g.18672034A>T
-
-
RS1_000016
expression construct in pcDNA3.1, COS-7 cell expression
PubMed: Wang 2002
-
-
In vitro (cloned)
-
-
-
-
-
DNA
SEQ
?
-
cancer, breast
-
-
-
-
?
Netherlands
-
-
-
-
-
1
Ans M.W. van den Ouweland
+?/.
1
c.35T>A
r.(?)
p.(Leu12His)
Maternal (inferred)
-
likely pathogenic
g.18690154A>T
g.18672034A>T
RS1 c.35T>A, p.Leu12His
-
RS1_000016
-
PubMed: Vijayasarathy 2010
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
-
retinal disease
2
PubMed: Vijayasarathy 2010
-
M
-
(United States)
-
-
-
-
-
1
LOVD
+?/.
-
c.35T>A
r.(?)
p.(Leu12His)
Maternal (inferred)
-
likely pathogenic
g.18690154A>T
g.18672034A>T
RS1 c.35T>A, p.(Leu12His)
-
RS1_000016
-
PubMed: Fahim 2017
-
-
Unknown
?
-
-
-
-
DNA
?
-
retrospective study
retinal disease
2
PubMed: Fahim 2017
no patient numbers in paper, consecutive numbers given
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.35T>A
r.(?)
p.(Leu12His)
Maternal (inferred)
-
likely pathogenic
g.18690154A>T
g.18672034A>T
RS1 c.35T>A, p.(Leu12His)
-
RS1_000016
-
PubMed: Fahim 2017
-
-
Unknown
?
-
-
-
-
DNA
?
-
retrospective study
retinal disease
3
PubMed: Fahim 2017
no patient numbers in paper, consecutive numbers given
M
-
-
-
-
-
-
-
1
LOVD
+?/.
1
c.35T>A
r.(?)
p.(Leu12His)
Maternal (confirmed)
-
likely pathogenic (recessive)
g.18690154A>T
g.18672034A>T
[35T>A;52+5G>C]
-
RS1_000016
ACMG PM1, PM2, PP2, PP3, PP4, PP5
PubMed: Georgiou 2022
-
rs62645879
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
-
PubMed: Georgiou 2022
family, 1 affected
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+?/.
1
c.35T>A
r.(?)
p.(Leu12His)
Maternal (confirmed)
-
likely pathogenic (recessive)
g.18690154A>T
g.18672034A>T
[35T>A;52+5G>C]
-
RS1_000016
ACMG PM1, PM2, PP2, PP3, PP4, PP5
PubMed: Georgiou 2022
-
rs62645879
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
-
PubMed: Georgiou 2022
family, 1 affected
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+?/.
1
c.35T>A
r.(?)
p.(Leu12His)
Maternal (confirmed)
-
likely pathogenic (recessive)
g.18690154A>T
g.18672034A>T
[35T>A;52+5G>C]
-
RS1_000016
ACMG PM1, PM2, PP2, PP3, PP4, PP5
PubMed: Georgiou 2022
-
rs62645879
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
-
PubMed: Georgiou 2022
family, 1 affected
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+?/.
1
c.35T>A
r.(?)
p.(Leu12His)
Unknown
-
likely pathogenic (recessive)
g.18690154A>T
g.18672034A>T
-
-
RS1_000016
ACMG PM1, PM2, PP2, PP3, PP4, PP5
PubMed: Georgiou 2022
-
rs62645879
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
-
PubMed: Georgiou 2022
family, 1 affected
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+?/.
1
c.35T>A
r.(?)
p.(Leu12His)
Unknown
-
likely pathogenic (recessive)
g.18690154A>T
g.18672034A>T
-
-
RS1_000016
ACMG PM1, PM2, PP2, PP3, PP4, PP5
PubMed: Georgiou 2022
-
rs62645879
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
-
PubMed: Georgiou 2022
family, 1 affected
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+?/.
1
c.35T>A
r.(?)
p.(Leu12His)
Unknown
-
likely pathogenic (recessive)
g.18690154A>T
g.18672034A>T
-
-
RS1_000016
ACMG PM1, PM2, PP2, PP3, PP4, PP5
PubMed: Georgiou 2022
-
rs62645879
Germline
-
-
-
-
-
DNA
SEQ
-
-
RS1
-
PubMed: Georgiou 2022
family, 1 affected
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
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