Global Variome shared LOVD
PDE6A (phosphodiesterase 6A, cGMP-specific, rod, alpha)
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Global Variome, with Curator vacancy
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This database is one of the
"Eye disease"
gene variant databases.
The variants shown are described using the NM_000440.2 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
conflicting
association
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arrayMET = array for methylation analysis
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = single molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
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combination
Text
*|Ter !fs
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Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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617 entries on 7 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
?/.
1
c.-42C>T
r.(?)
p.(=)
Unknown
-
VUS
g.149324278G>A
-
c.-42C>T
-
PDE6A_000151
-
PubMed: Anasagasti-2013
-
rs113137904
Germline
yes
<0.01
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Anasagasti-2013
-
-
-
Spain
-
-
-
-
-
1
LOVD
?/.
1
c.-42C>T
r.(?)
p.(=)
Unknown
-
VUS
g.149324278G>A
-
c.-42C>T
-
PDE6A_000151
-
PubMed: Anasagasti-2013
-
rs113137904
Germline
yes
<0.01
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Anasagasti-2013
-
-
-
Spain
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.?
p.?
Unknown
ACMG
likely pathogenic (recessive)
g.149230182_149270203dup
-
-
-
RAD50_000000
ACMG PM2, PVS1; no variant 2nd chromosome
PubMed: Weisschuh 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
ARRP-413
PubMed: Weisschuh 2024
patient, no family history
M
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.1A>G
r.(?)
p.(Met1?)
Unknown
ACMG
likely pathogenic
g.149324236T>C
g.149944673T>C
PDE6A c.1A>G, p.(Met1?), c.2332_2335del, p.(Asp778Leufs*42)
-
PDE6A_000140
-
PubMed: Jespersgaar 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
125 genes associated with inherited retinal disorders, see paper supplemental data
retinal disease
164
PubMed: Jespersgaar 2019
-
?
-
Denmark
-
-
-
-
-
1
LOVD
+?/.
-
c.38T>A
r.(?)
p.(Leu13Gln)
Parent #1
-
likely pathogenic
g.149324199A>T
g.149944636A>T
PDE6A, variant 1: c.38T>A/p.L13Q, variant 2: c.2053G>A/p.V685M
-
PDE6A_000166
possibly solved, compound heterozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
RET7 targeted sequencing panel - see paper
retinal disease
1163
PubMed: Weisschuh 2020
Filing key number: 828, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given
F
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.63_68del
r.(?)
p.(Lys21_Tyr23delinsAsn)
Parent #1
ACMG
likely pathogenic
g.149324170_149324175del
g.149944607_149944612del
PDE6A c.63_68del/ p.K21_Y23delinsN
-
PDE6A_000198
HGMD: none; heterozygous
PubMed: Kuehlewein 2020
-
-
Germline
yes
-
-
-
-
DNA
?
-
retrospective study
retinal disease
2
PubMed: Kuehlewein 2020
-
-
-
Germany
-
-
-
-
-
1
LOVD
+/.
-
c.84C>G
r.(?)
p.(Tyr28Ter)
Unknown
-
pathogenic
g.149324153G>C
g.149944590G>C
-
-
PDE6A_000050
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.84C>G
r.(?)
p.(Tyr28*)
Both (homozygous)
ACMG
likely pathogenic
g.149324153G>C
g.149944590G>C
PDE6A c.84C>G/p.Y28*
-
PDE6A_000050
HGMD: none; homozygous
PubMed: Kuehlewein 2020
-
-
Unknown
?
-
-
-
-
DNA
?
-
retrospective study
retinal disease
35
PubMed: Kuehlewein 2020
-
-
-
Germany
-
-
-
-
-
1
LOVD
?/.
-
c.85C>T
r.(?)
p.(Arg29Trp)
Unknown
-
VUS
g.149324152G>A
g.149944589G>A
PDE6A(NM_000440.2):c.85C>T (p.R29W)
-
PDE6A_000093
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
1
c.85C>T
r.(?)
p.(Arg29Trp)
Both (homozygous)
-
likely pathogenic
g.149324152G>A
g.149944589G>A
PDE6A Ex.1 c.85C>T p.(Arg29Trp), Ex.1 c.85C>T p.(Arg29Trp)
-
PDE6A_000093
homozygous
PubMed: Martin Merida 2019
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG-I
-
-
retinal disease
RP-1700
PubMed: Martin Merida 2019
-
?
-
Spain
-
-
-
-
-
1
LOVD
+?/.
-
c.86G>A
r.(?)
p.(Arg29Gln)
Parent #1
-
VUS
g.149324151C>T
g.149944588C>T
-
-
PDE6A_000213
-
PubMed: Peng 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
?
Pat11
PubMed: Peng 2017
2-generation family, 1 affected, unaffected parents
M
-
-
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.88G>A
r.(?)
p.(Ala30Thr)
Unknown
-
VUS
g.149324149C>T
g.149944586C>T
PDE6A(NM_000440.2):c.88G>A (p.A30T)
-
PDE6A_000028
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.102C>T
r.(?)
p.(Ser34=)
Unknown
-
benign
g.149324135G>A
g.149944572G>A
PDE6A(NM_000440.3):c.102C>T (p.S34=)
-
PDE6A_000027
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.103G>A
r.(?)
p.(Asp35Asn)
Unknown
-
VUS
g.149324134C>T
g.149944571C>T
PDE6A(NM_000440.2):c.103G>A (p.D35N)
-
PDE6A_000092
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.156G>A
r.(?)
p.(Pro52=)
Unknown
-
likely benign
g.149324081C>T
-
PDE6A(NM_000440.2):c.156G>A (p.P52=)
-
PDE6A_000191
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.166G>T
r.(?)
p.(Glu56*)
Both (homozygous)
-
pathogenic (recessive)
g.149324071C>A
-
c.166G>T:p.E56X
-
PDE6A_000174
-
PubMed: Numa-2020
-
-
Unknown
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
retinal disease
-
PubMed: Numa 2020
-
M
-
Japan
Japanese
-
-
-
-
1
LOVD
?/.
-
c.174C>A
r.(?)
p.(Ser58Arg)
Unknown
-
VUS
g.149324063G>T
g.149944500G>T
PDE6A(NM_000440.3):c.174C>A (p.S58R)
-
PDE6A_000091
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.177A>G
r.(?)
p.(Glu59=)
Unknown
-
benign
g.149324060T>C
g.149944497T>C
PDE6A(NM_000440.2):c.177A>G (p.E59=), PDE6A(NM_000440.3):c.177A>G (p.E59=)
-
PDE6A_000026
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.177A>G
r.(?)
p.(Glu59=)
Unknown
-
likely benign
g.149324060T>C
g.149944497T>C
PDE6A(NM_000440.2):c.177A>G (p.E59=), PDE6A(NM_000440.3):c.177A>G (p.E59=)
-
PDE6A_000026
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.196C>T
r.(?)
p.(Arg66Trp)
Unknown
-
VUS
g.149324041G>A
g.149944478G>A
-
-
PDE6A_000069
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
rs149945348
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.196C>T
r.(?)
p.(Arg66Trp)
Both (homozygous)
-
VUS
g.149324041G>A
g.149944478G>A
-
-
PDE6A_000069
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
rs149945348
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.196C>T
r.(?)
p.(Arg66Trp)
Unknown
-
VUS
g.149324041G>A
-
PDE6A(NM_000440.2):c.196C>T (p.R66W)
-
PDE6A_000069
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.205C>T
r.(?)
p.?
Both (homozygous)
-
pathogenic
g.149324032G>A
-
c.205C>T
-
PDE6A_000129
-
PubMed: Wang-2013
-
-
Unknown
-
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
-
PubMed: Wang-2013
novel LOF mutations
-
no
-
-
-
-
-
-
1
Julia Lopez
?/.
-
c.205C>T
r.(?)
p.(Gln69*)
Maternal (confirmed)
-
VUS
g.149324032G>A
g.149944469G>A
PDE6A nucleotide 1, protein 1:c.205C>T, p.Gln69* nucleotide 2, protein 2:c.2275-1G>A, p.?
-
PDE6A_000129
heterozygous, 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
59
PubMed: Hull 2020
-
?
-
New Zealand
white
-
-
-
-
1
LOVD
+/.
1
c.205C>T
r.(?)
p.(Gln69*)
Paternal (confirmed)
ACMG
pathogenic
g.149324032G>A
g.149944469G>A
PDE6A c.205C>T, p.(Gln69*)
-
PDE6A_000129
heterozygous; mother, father and unaffected brother het c.1683G>A p.(Trp561
PubMed: Khateb 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
-
for techniques used for each patient see paper supplemental data
retinal disease
CIC047 74
PubMed: Khateb 2019
Family F2374
-
-
-
-
-
-
-
-
1
LOVD
-?/.
1
c.251A>T
r.(?)
p.(Lys84Met)
Unknown
-
likely benign
g.149323986T>A
-
c.251A>T
-
PDE6A_000188
-
PubMed: Men-2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
Patient 1
PubMed: Men-2017
-
M
-
(United States)
-
-
-
-
-
1
LOVD
+/.
-
c.268C>T
r.(?)
p.(Gln90Ter)
Unknown
-
pathogenic
g.149323969G>A
g.149944406G>A
-
-
PDE6A_000049
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.282G>A
r.(?)
p.(Met94Ile)
Unknown
-
VUS
g.149323955C>T
g.149944392C>T
PDE6A(NM_000440.2):c.282G>A (p.M94I), PDE6A(NM_000440.3):c.282G>A (p.M94I)
-
PDE6A_000025
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.282G>A
r.(?)
p.(Met94Ile)
Unknown
-
VUS
g.149323955C>T
-
PDE6A(NM_000440.2):c.282G>A (p.M94I), PDE6A(NM_000440.3):c.282G>A (p.M94I)
-
PDE6A_000025
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
1
c.285C>A
r.(?)
p.(Ser95Arg)
Unknown
ACMG
likely pathogenic
g.149323952G>T
g.149944389G>T
NM_000440.2:c.285C>A, NP_000431.2:p.(Ser95Arg), NC_000005.9:g.149323952G>T
-
PDE6A_000126
-
PubMed: Wang 2018
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
-
exome sequencing
retinal disease
2016101706
PubMed: Wang 2018
-
M
?
China
Han Chinese
-
-
-
-
1
LOVD
+?/.
1
c.285C>A
r.?
p.(Ser95Arg)
Unknown
-
likely pathogenic (recessive)
g.149323952G>T
-
c.285C>A
-
PDE6A_000126
-
PubMed: Liu-2020
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
-
PubMed: Liu-2020
-
M
-
-
-
-
-
-
-
1
LOVD
+?/.
1
c.298C>T
r.(?)
p.(Arg100Trp)
Unknown
-
likely pathogenic
g.149323939G>A
-
c.298C>T
-
PDE6A_000131
-
PubMed: Eisenberger-2013
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I, SEQ-NG-R, SEQ
blood
-
retinal disease
-
PubMed: Eisenberger-2013
-
F
no
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Unknown
-
likely pathogenic
g.149323933G>T
g.149944370G>T
PDE6A(NM_000440.2):c.304C>A (p.R102S), PDE6A(NM_000440.3):c.304C>A (p.R102S)
-
PDE6A_000048
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Unknown
-
likely pathogenic
g.149323933G>T
g.149944370G>T
PDE6A(NM_000440.2):c.304C>A (p.R102S), PDE6A(NM_000440.3):c.304C>A (p.R102S)
-
PDE6A_000048
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Parent #1
-
likely pathogenic
g.149323933G>T
-
-
-
PDE6A_000048
-
PubMed: Holtan 2020
-
-
Germline
-
2/899 cases
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Holtan 2020
2 patients with variant in heterozygous or compound heterozygous form
-
-
Norway
-
-
-
-
-
2
Global Variome, with Curator vacancy
+?/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Unknown
ACMG
likely pathogenic
g.149323933G>T
-
-
-
PDE6A_000048
-
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.304C>A
r.(?)
p.(Arg102Ser)
Both (homozygous)
-
pathogenic (recessive)
g.149323933G>T
g.149944370G>T
-
-
PDE6A_000048
-
PubMed: Maria 2015
-
-
Germline
-
-
-
-
-
DNA
arraySNP, SEQ
-
-
retinal disease
Fam12
PubMed: Maria 2015
family
-
yes
Pakistan
-
-
-
-
-
5
LOVD
+/.
1
c.304C>A
r.(?)
p.(Arg102Ser)
Both (homozygous)
-
pathogenic
g.149323933G>T
-
c.304C>A
-
PDE6A_000048
-
PubMed: Avila Fernandez 2010
-
-
Germline
-
-
-
-
-
DNA
PE
blood
-
retinal disease
-
PubMed: Avila Fernandez 2010
-
-
-
-
Spanish
-
-
-
-
1
LOVD
?/.
1
c.304C>A
r.(?)
p.(Arg102Ser)
Both (homozygous)
-
VUS
g.149323933G>T
-
c.304C>A
-
PDE6A_000048
-
PubMed: Abu-Safieh-2013
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
blood
autozygome-guided sequencing
retinal disease
-
PubMed: Abu-Safieh-2013
-
-
-
Saudi Arabia
-
-
-
-
-
2
LOVD
+?/.
1
c.304C>A
r.(?)
p.(Arg102Ser)
Unknown
ACMG
likely pathogenic
g.149323933G>T
g.149944370G>T
c.304C>A , p.Arg102Ser
-
PDE6A_000048
Heterozygous
PubMed: Birtel 2018
-
rs141252097
Germline
?
-
-
-
-
DNA
SEQ
blood
-
retinal disease
34
PubMed: Birtel 2018
-
M
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Unknown
ACMG
likely pathogenic
g.149323933G>T
g.149944370G>T
GPR98 c.4379-1G>A, p.(?), c.17195del, p.(Pro5732Leufs*54),, pDE6A c.304C>A, p.(Arg102Ser)
-
PDE6A_000048
-
PubMed: Jespersgaar 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
125 genes associated with inherited retinal disorders, see paper supplemental data
retinal disease
147
PubMed: Jespersgaar 2019
-
?
-
Denmark
-
-
-
-
-
1
LOVD
+?/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Unknown
-
likely pathogenic
g.149323933G>T
g.149944370G>T
c.304C>A, p.Arg102Ser
-
PDE6A_000048
heterozygous
PubMed: Zampaglione 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I, SEQ
blood
-
retinal disease
121-412
PubMed: Zampaglione 2020
-
?
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.304C>A
r.(?)
p.(Arg102Cys)
Parent #1
-
likely pathogenic
g.149323933G>T
g.149944370G>T
PDE6A c.304C>A, p.R102C
-
PDE6A_000048
error in annotation: c.304C>A causes p.R102S and not p.R102C, compound heterozygous
PubMed: Jauregui 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
targeted sequencing
retinal disease
89
PubMed: Jauregui 2020
-
M
-
(United States)
Hispanic
-
-
-
-
1
LOVD
+?/.
-
c.304C>A
r.(?)
p.(Arg102Cys)
Parent #1
-
likely pathogenic
g.149323933G>T
g.149944370G>T
PDE6A c.304C>A, p.R102C
-
PDE6A_000048
error in annotation: c.304C>A causes p.R102S and not p.R102C, compound heterozygous
PubMed: Jauregui 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
targeted sequencing
retinal disease
91
PubMed: Jauregui 2020
-
M
-
(United States)
Hispanic
-
-
-
-
1
LOVD
+?/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Parent #1
-
likely pathogenic
g.149323933G>T
g.149944370G>T
PDE6A, variant 1: c.304C>A/p.R102S, variant 2: c.304C>A/p.R102S
-
PDE6A_000048
solved, homozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
RET3 targeted sequencing panel - see paper
retinal disease
609
PubMed: Weisschuh 2020
Filing key number: 219, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given
F
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Parent #1
-
likely pathogenic
g.149323933G>T
g.149944370G>T
PDE6A, variant 1: c.304C>A/p.R102S, variant 2: c.2053G>A/p.V685M
-
PDE6A_000048
solved, compound heterozygous
PubMed: Weisschuh 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
RET9 targeted sequencing panel - see paper
retinal disease
799
PubMed: Weisschuh 2020
Filing key number: 316, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given
F
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Parent #1
-
likely pathogenic
g.149323933G>T
g.149944370G>T
PDE6A, variant 1: c.304C>A/p.R102S, variant 2: c.304C>A/p.R102S
-
PDE6A_000048
solved, homozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
RET9 targeted sequencing panel - see paper
retinal disease
807
PubMed: Weisschuh 2020
Filing key number: 322, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Parent #1
-
likely pathogenic
g.149323933G>T
g.149944370G>T
PDE6A, variant 1: c.304C>A/p.R102S, variant 2: c.2053G>A/p.V685M
-
PDE6A_000048
solved, compound heterozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
RET1 targeted sequencing panel - see paper
retinal disease
1027
PubMed: Weisschuh 2020
Filing key number: 552, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Parent #1
-
likely pathogenic
g.149323933G>T
g.149944370G>T
PDE6A, variant 1: c.304C>A/p.R102S, variant 2: c.304C>A/p.R102S
-
PDE6A_000048
solved, homozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
RET6 targeted sequencing panel - see paper
retinal disease
1164
PubMed: Weisschuh 2020
Filing key number: 829, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given
F
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Parent #1
-
likely pathogenic
g.149323933G>T
g.149944370G>T
PDE6A, variant 1: c.304C>A/p.R102S, variant 2: c.1359_1361delinsCC/ p.V454Qfs*5
-
PDE6A_000048
solved, compound heterozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
RET8 targeted sequencing panel - see paper
retinal disease
1209
PubMed: Weisschuh 2020
Filing key number: 929, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
1
LOVD
+?/.
1
c.304C>A
r.(?)
p.(Arg102Ser)
Unknown
-
likely pathogenic
g.149323933G>T
-
c.304C>A
-
PDE6A_000048
-
PubMed: Booij-2011
-
-
Germline
-
-
-
-
-
DNA
arraySEQ
Blood
-
retinal disease
-
PubMed: Booij-2011
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
1
c.304C>A
r.(?)
p.(Arg102Ser)
Unknown
-
likely pathogenic (recessive)
g.149323933G>T
-
c.304C>A
-
PDE6A_000048
-
PubMed: Colombo-2020
-
rs141252097
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Colombo-2020
-
F
no
-
-
-
-
-
-
1
LOVD
+?/.
1
c.304C>A
r.(?)
p.(Arg102Ser)
Unknown
-
likely pathogenic (recessive)
g.149323933G>T
-
c.304C>A
-
PDE6A_000048
-
PubMed: Colombo-2020
-
rs141252097
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Colombo-2020
-
M
no
-
-
-
-
-
-
1
LOVD
+?/.
1
c.304C>A
r.(?)
p.(Arg102Ser)
Paternal (confirmed)
ACMG
likely pathogenic
g.149323933G>T
g.149944370G>T
PDE6A c.304C>A, p.(Arg102Ser)
-
PDE6A_000048
heterozygous
PubMed: Khateb 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
-
for techniques used for each patient see paper supplemental data
retinal disease
CIC005 70
PubMed: Khateb 2019
Family F383
-
-
-
-
-
-
-
-
1
LOVD
+?/.
1
c.304C>A
r.(?)
p.(Arg102Ser)
Paternal (confirmed)
ACMG
likely pathogenic
g.149323933G>T
g.149944370G>T
PDE6A c.304C>A, p.(Arg102Ser)
-
PDE6A_000048
heterozygous
PubMed: Khateb 2019
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG, SEQ
-
for techniques used for each patient see paper supplemental data
retinal disease
CIC006 44
PubMed: Khateb 2019
Family F435
-
-
-
-
-
-
-
-
1
LOVD
+?/.
1
c.304C>A
r.(?)
p.(Arg102Ser)
Unknown
ACMG
likely pathogenic
g.149323933G>T
g.149944370G>T
PDE6A c.304C>A, p.(Arg102Ser)
-
PDE6A_000048
heterozygous
PubMed: Khateb 2019
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG, SEQ
-
for techniques used for each patient see paper supplemental data
retinal disease
CIC069 49
PubMed: Khateb 2019
Family F3808
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Unknown
-
likely pathogenic
g.149323933G>T
g.149944370G>T
PDE6A c.304C>A, R102S
-
PDE6A_000048
homozygous
PubMed: Chebil 2016
-
-
Unknown
?
-
-
-
-
DNA
arraySNP, SEQ
-
-
retinal disease
Family ?
PubMed: Chebil 2016
2 patients, 1 family
?
-
France
Tunisia
-
-
-
-
1
LOVD
+?/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Paternal (confirmed)
-
likely pathogenic
g.149323933G>T
g.149944370G>T
PDE6A Arg102Ser (CGC to AGC)
-
PDE6A_000048
no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous
PubMed: Dryja 1999
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
blood
-
retinal disease
003-043 (II:1)
PubMed: Dryja 1999
family 6877
F
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Paternal (confirmed)
-
likely pathogenic
g.149323933G>T
g.149944370G>T
PDE6A Arg102Ser (CGC to AGC)
-
PDE6A_000048
no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous
PubMed: Dryja 1999
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
blood
-
retinal disease
003-043 (II:2)
PubMed: Dryja 1999
family 6877
F
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Both (homozygous)
ACMG
pathogenic
g.149323933G>T
g.149944370G>T
PDE6A c.304C>A/p.R102S
-
PDE6A_000048
HGMD: CM994742; homozygous
PubMed: Kuehlewein 2020
-
-
Unknown
?
-
-
-
-
DNA
?
-
retrospective study
retinal disease
34
PubMed: Kuehlewein 2020
-
-
-
Germany
-
-
-
-
-
1
LOVD
+/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Unknown
ACMG
pathogenic
g.149323933G>T
g.149944370G>T
PDE6A c.304C>A/p.R102S
-
PDE6A_000048
HGMD: CM994742; heterozygous
PubMed: Kuehlewein 2020
-
-
Unknown
?
-
-
-
-
DNA
?
-
retrospective study
retinal disease
110
PubMed: Kuehlewein 2020
-
-
-
Germany
-
-
-
-
-
1
LOVD
+/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Both (homozygous)
ACMG
pathogenic
g.149323933G>T
g.149944370G>T
PDE6A c.304C>A/p.R102S
-
PDE6A_000048
HGMD: CM994742; homozygous
PubMed: Kuehlewein 2020
-
-
Unknown
?
-
-
-
-
DNA
?
-
retrospective study
retinal disease
102
PubMed: Kuehlewein 2020
-
-
-
Germany
-
-
-
-
-
1
LOVD
+/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Unknown
ACMG
pathogenic
g.149323933G>T
g.149944370G>T
PDE6A c.304C>A/p.R102S
-
PDE6A_000048
HGMD: CM994742; heterozygous
PubMed: Kuehlewein 2020
-
-
Unknown
?
-
-
-
-
DNA
?
-
retrospective study
retinal disease
49
PubMed: Kuehlewein 2020
-
-
-
Germany
-
-
-
-
-
1
LOVD
+/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Both (homozygous)
ACMG
pathogenic
g.149323933G>T
g.149944370G>T
PDE6A c.304C>A/p.R102S
-
PDE6A_000048
HGMD: CM994742; homozygous
PubMed: Kuehlewein 2020
-
-
Unknown
?
-
-
-
-
DNA
?
-
retrospective study
retinal disease
101
PubMed: Kuehlewein 2020
-
-
-
Germany
-
-
-
-
-
1
LOVD
+/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Parent #1
ACMG
pathogenic
g.149323933G>T
g.149944370G>T
PDE6A c.304C>A/p.R102S
-
PDE6A_000048
HGMD: CM994742; heterozygous
PubMed: Kuehlewein 2020
-
-
Germline
yes
-
-
-
-
DNA
?
-
retrospective study
retinal disease
3
PubMed: Kuehlewein 2020
-
-
-
Germany
-
-
-
-
-
1
LOVD
+/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Unknown
ACMG
pathogenic
g.149323933G>T
g.149944370G>T
PDE6A c.304C>A/p.R102S
-
PDE6A_000048
HGMD: CM994742; heterozygous
PubMed: Kuehlewein 2020
-
-
Unknown
?
-
-
-
-
DNA
?
-
retrospective study
retinal disease
105
PubMed: Kuehlewein 2020
-
-
-
Germany
-
-
-
-
-
1
LOVD
+/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Both (homozygous)
ACMG
pathogenic
g.149323933G>T
g.149944370G>T
PDE6A c.304C>A/p.R102S
-
PDE6A_000048
HGMD: CM994742; homozygous
PubMed: Kuehlewein 2020
-
-
Unknown
?
-
-
-
-
DNA
?
-
retrospective study
retinal disease
47
PubMed: Kuehlewein 2020
-
-
-
Germany
-
-
-
-
-
1
LOVD
+/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Parent #1
ACMG
pathogenic
g.149323933G>T
g.149944370G>T
PDE6A c.304C>A/p.R102S
-
PDE6A_000048
HGMD: CM994742; heterozygous
PubMed: Kuehlewein 2020
-
-
Germline
yes
-
-
-
-
DNA
?
-
retrospective study
retinal disease
29
PubMed: Kuehlewein 2020
-
-
-
Germany
-
-
-
-
-
1
LOVD
+/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Parent #1
ACMG
pathogenic
g.149323933G>T
g.149944370G>T
PDE6A c.304C>A/p.R102S
-
PDE6A_000048
HGMD: CM994742; heterozygous
PubMed: Kuehlewein 2020
-
-
Germline
yes
-
-
-
-
DNA
?
-
retrospective study
retinal disease
46
PubMed: Kuehlewein 2020
-
-
-
Germany
-
-
-
-
-
1
LOVD
+/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Parent #1
ACMG
pathogenic
g.149323933G>T
g.149944370G>T
PDE6A c.304C>A/p.R102S
-
PDE6A_000048
HGMD: CM994742; heterozygous
PubMed: Kuehlewein 2020
-
-
Germline
yes
-
-
-
-
DNA
?
-
retrospective study
retinal disease
15
PubMed: Kuehlewein 2020
-
-
-
Germany
-
-
-
-
-
1
LOVD
+/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Parent #1
ACMG
pathogenic
g.149323933G>T
g.149944370G>T
PDE6A c.304C>A/p.R102S
-
PDE6A_000048
HGMD: CM994742; heterozygous
PubMed: Kuehlewein 2020
-
-
Germline
yes
-
-
-
-
DNA
?
-
retrospective study
retinal disease
16
PubMed: Kuehlewein 2020
-
-
-
Germany
-
-
-
-
-
1
LOVD
+/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Parent #1
ACMG
pathogenic
g.149323933G>T
g.149944370G>T
PDE6A c.304C>A/p.R102S
-
PDE6A_000048
HGMD: CM994742; heterozygous
PubMed: Kuehlewein 2020
-
-
Germline
yes
-
-
-
-
DNA
?
-
retrospective study
retinal disease
30
PubMed: Kuehlewein 2020
-
-
-
Germany
-
-
-
-
-
1
LOVD
+/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Both (homozygous)
ACMG
pathogenic
g.149323933G>T
g.149944370G>T
PDE6A c.304C>A/p.R102S
-
PDE6A_000048
HGMD: CM994742; homozygous
PubMed: Kuehlewein 2020
-
-
Unknown
?
-
-
-
-
DNA
?
-
retrospective study
retinal disease
27
PubMed: Kuehlewein 2020
-
-
-
Germany
-
-
-
-
-
1
LOVD
+/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Both (homozygous)
ACMG
pathogenic
g.149323933G>T
g.149944370G>T
PDE6A c.304C>A/p.R102S
-
PDE6A_000048
HGMD: CM994742; homozygous
PubMed: Kuehlewein 2020
-
-
Unknown
?
-
-
-
-
DNA
?
-
retrospective study
retinal disease
1
PubMed: Kuehlewein 2020
-
-
-
Germany
-
-
-
-
-
1
LOVD
+/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Both (homozygous)
ACMG
pathogenic
g.149323933G>T
g.149944370G>T
PDE6A c.304C>A/p.R102S
-
PDE6A_000048
HGMD: CM994742; homozygous
PubMed: Kuehlewein 2020
-
-
Unknown
?
-
-
-
-
DNA
?
-
retrospective study
retinal disease
7
PubMed: Kuehlewein 2020
-
-
-
Germany
-
-
-
-
-
1
LOVD
+/.
1
c.304C>A
r.(?)
p.(Arg102Ser)
Both (homozygous)
-
pathogenic
g.149323933G>T
-
c.304C>A
-
PDE6A_000048
-
PubMed: Panneman 2023
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
RP-LCA smMIPs sequencing
RP
-
PubMed: Panneman 2023
-
M
-
-
-
-
-
-
-
1
Daan Panneman
+/.
1
c.304C>A
r.(?)
p.(Arg102Ser)
Both (homozygous)
-
pathogenic
g.149323933G>T
-
c.304C>A
-
PDE6A_000048
-
PubMed: Panneman 2023
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
RP-LCA smMIPs sequencing
RP
-
PubMed: Panneman 2023
-
M
-
-
-
-
-
-
-
1
Daan Panneman
+/.
1
c.304C>A
r.(?)
p.(Arg102Ser)
Both (homozygous)
-
pathogenic
g.149323933G>T
-
c.304C>A
-
PDE6A_000048
-
PubMed: Panneman 2023
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
RP-LCA smMIPs sequencing
RP
-
PubMed: Panneman 2023
-
F
-
-
-
-
-
-
-
1
Daan Panneman
+/.
1
c.304C>A
r.(?)
p.(Arg102Ser)
Both (homozygous)
-
pathogenic
g.149323933G>T
-
c.304C>A
-
PDE6A_000048
-
PubMed: Panneman 2023
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
RP-LCA smMIPs sequencing
RP
-
PubMed: Panneman 2023
-
F
-
-
-
-
-
-
-
1
Daan Panneman
+/.
1
c.304C>A
r.(?)
p.(Arg102Ser)
Both (homozygous)
-
pathogenic
g.149323933G>T
-
c.304C>A
-
PDE6A_000048
-
PubMed: Panneman 2023
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
RP-LCA smMIPs sequencing
RP
-
PubMed: Panneman 2023
-
M
-
-
-
-
-
-
-
1
Daan Panneman
+/.
1
c.304C>A
r.(?)
p.(Arg102Ser)
Parent #1
-
pathogenic
g.149323933G>T
-
c.304C>A
-
PDE6A_000048
-
PubMed: Panneman 2023
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
RP-LCA smMIPs sequencing
RP
-
PubMed: Panneman 2023
-
M
-
-
-
-
-
-
-
1
Daan Panneman
+/.
1
c.304C>A
r.(?)
p.(Arg102Ser)
Parent #1
-
pathogenic
g.149323933G>T
-
c.304C>A
-
PDE6A_000048
-
PubMed: Panneman 2023
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
RP-LCA smMIPs sequencing
RP
-
PubMed: Panneman 2023
-
M
-
-
-
-
-
-
-
1
Daan Panneman
+/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Both (homozygous)
ACMG
pathogenic (recessive)
g.149323933G>T
g.149944370G>T
-
-
PDE6A_000048
ACMG PM2, PM5, PP5_STRONG
PubMed: Weisschuh 2024
193099
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
SRP-1185
PubMed: Weisschuh 2024
patient
M
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Unknown
ACMG
pathogenic (recessive)
g.149323933G>T
g.149944370G>T
-
-
PDE6A_000048
ACMG PM2, PM5, PP5_STRONG
PubMed: Weisschuh 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
CD-632
PubMed: Weisschuh 2024
patient, no family history
F
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.304C>A
r.(?)
p.(Arg102Ser)
Parent #2
-
pathogenic
g.149323933G>T
g.149944370G>T
-
-
PDE6A_000048
-
PubMed: Midgley 2024
-
rs141252097
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
Pat30
PubMed: Midgley 2024
-
F
-
South Africa
white
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.304C>T
r.(?)
p.(Arg102Cys)
Unknown
-
likely pathogenic
g.149323933G>A
g.149944370G>A
-
-
PDE6A_000047
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.304C>T
r.(?)
p.(Arg102Cys)
Unknown
-
likely pathogenic
g.149323933G>A
g.149944370G>A
c.304C>T, p.Arg102Cys
-
PDE6A_000047
heterozygous
PubMed: Zampaglione 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I, SEQ
blood
-
retinal disease
121-036
PubMed: Zampaglione 2020
-
?
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.304C>T
r.(?)
p.(Arg102Cys)
Maternal (confirmed)
-
likely pathogenic
g.149323933G>A
g.149944370G>A
PDE6A 304C>T, R102C
-
PDE6A_000047
within the sam publication also variants without ascribed individuals and zygosities: CRB1 (T745M and P836T), USH2A (E478D, L555V, W4149R, P1978S, G713R, E767fs, and C759F), and RPE65 (A132T) without nucleotide description
PubMed: Tsang 2008
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
retinal disease
II-4
PubMed: Tsang 2008
-
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.304C>T
r.(?)
p.(Arg102Cys)
Maternal (confirmed)
-
likely pathogenic
g.149323933G>A
g.149944370G>A
PDE6A 304C>T, R102C
-
PDE6A_000047
within the sam publication also variants without ascribed individuals and zygosities: CRB1 (T745M and P836T), USH2A (E478D, L555V, W4149R, P1978S, G713R, E767fs, and C759F), and RPE65 (A132T) without nucleotide description
PubMed: Tsang 2008
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
retinal disease
II-5
PubMed: Tsang 2008
-
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.304C>T
r.(?)
p.(Arg102Cys)
Maternal (confirmed)
-
likely pathogenic
g.149323933G>A
g.149944370G>A
PDE6A 304C>T, R102C
-
PDE6A_000047
within the sam publication also variants without ascribed individuals and zygosities: CRB1 (T745M and P836T), USH2A (E478D, L555V, W4149R, P1978S, G713R, E767fs, and C759F), and RPE65 (A132T) without nucleotide description
PubMed: Tsang 2008
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
retinal disease
II-8
PubMed: Tsang 2008
-
M
-
-
-
-
-
-
1 gram daily of oral acetazolamide for three months with improvement of VA to 20/25
1
LOVD
+/.
1
c.304C>T
r.(?)
p.(Arg102Cys)
Parent #1
-
pathogenic
g.149323933G>A
-
c.304C>T
-
PDE6A_000047
-
PubMed: Panneman 2023
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
RP-LCA smMIPs sequencing
RP
-
PubMed: Panneman 2023
-
M
-
-
-
-
-
-
-
1
Daan Panneman
+?/.
-
c.305G>A
r.(?)
p.(Arg102His)
Both (homozygous)
-
likely pathogenic (recessive)
g.149323932C>T
-
-
-
PDE6A_000102
-
PubMed: Holtan 2020
-
-
Germline
-
1/899 cases
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Holtan 2020
1 homozygous patient
-
-
Norway
-
-
-
-
-
1
Global Variome, with Curator vacancy
+?/.
-
c.305G>A
r.(?)
p.(Arg102His)
Parent #1
-
likely pathogenic
g.149323932C>T
g.149944369C>T
-
-
PDE6A_000102
-
PubMed: Riera 2017
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
212-gene panel
retinal disease
Fi15/28
PubMed: Riera 2017
patient
-
-
Spain
-
-
-
-
-
1
LOVD
+/.
1
c.305G>A
r.(?)
p.(Arg102His)
Both (homozygous)
-
pathogenic
g.149323932C>T
-
c.305G>A
-
PDE6A_000102
-
PubMed: Avila Fernandez 2010
-
-
Germline
-
-
-
-
-
DNA
PE
blood
-
retinal disease
-
PubMed: Avila Fernandez 2010
-
-
-
-
Spanish
-
-
-
-
1
LOVD
+/.
1
c.305G>A
r.(?)
p.(Arg102His)
Both (homozygous)
-
pathogenic
g.149323932C>T
-
c.305G>A
-
PDE6A_000102
-
PubMed: Avila Fernandez 2010
-
-
Germline
-
-
-
-
-
DNA
PE
blood
-
retinal disease
-
PubMed: Avila Fernandez 2010
-
-
-
-
Spanish
-
-
-
-
1
LOVD
+?/.
1
c.305G>A
r.(?)
p.(Arg102His)
Both (homozygous)
-
likely pathogenic
g.149323932C>T
-
c.305G>A
-
PDE6A_000102
-
PubMed: Collin-2011
-
-
Germline
yes
-
-
-
-
DNA
PCR, SEQ, arraySNP
blood
-
retinal disease
-
PubMed: Collin-2011
-
F
-
Netherlands
-
-
-
-
-
1
LOVD
+?/.
1
c.305G>A
r.(?)
p.(Arg102His)
Unknown
-
likely pathogenic
g.149323932C>T
g.149944369C>T
PDE6A Ex.1 c.305G>A p.(Arg102His), Ex.1 c.305G>A p.(Arg102His), RPGRIP1: Ex.14 c.1767G>T p.(Gln589His)
-
PDE6A_000102
homozygous
PubMed: Martin Merida 2019
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
arraySNP
-
-
retinal disease
RP-0881
PubMed: Martin Merida 2019
-
?
-
Spain
-
-
-
-
-
1
LOVD
?/.
-
c.305G>A
r.(?)
p.(Arg102His)
Unknown
ACMG
VUS
g.149323932C>T
g.149944369C>T
PDE6A c.G305A, p.R102H
-
PDE6A_000102
marked as causative, heterozygous
PubMed: Ma 2021
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I, SEQ
-
whole exome sequencing
retinal disease
58
PubMed: Ma 2021
-
?
-
Korea
-
-
-
-
-
1
LOVD
+/.
1
c.305G>A
r.(?)
p.(Arg102His)
Both (homozygous)
ACMG
pathogenic
g.149323932C>T
g.149944369C>T
PDE6A c.305G>A, p.(Arg102His)
-
PDE6A_000102
heterozygous
PubMed: Khateb 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
-
for techniques used for each patient see paper supplemental data
retinal disease
CIC036 80
PubMed: Khateb 2019
Family F1628, index
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.305G>A
r.(?)
p.(Arg102His)
Paternal (confirmed)
-
likely pathogenic
g.149323932C>T
g.149944369C>T
PDE6A Arg102His (CGC to CAC)
-
PDE6A_000102
no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous
PubMed: Dryja 1999
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
blood
-
retinal disease
003-040 (II:4)
PubMed: Dryja 1999
family 5965
M
-
-
-
-
-
-
-
1
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