Global Variome shared LOVD
PDE6C (phosphodiesterase 6C, cGMP-specific, cone, a...)
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This database is one of the
"Eye disease"
gene variant databases.
The variants shown are described using the NM_006204.3 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
all entries containing 'Arg'
space
Text
Arg Ser
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|
Text
Arg|Ser
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!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
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
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
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<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
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>
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
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>
Numeric
>23
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>=
Numeric
>=23
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combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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265 entries on 3 pages. Showing entries 1 - 100.
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Effect
Exon
DNA change (cDNA)
RNA change
Protein
Allele
Classification method
Clinical classification
DNA change (genomic) (hg19)
DNA change (hg38)
Published as
ISCN
DB-ID
Variant remarks
Reference
ClinVar ID
dbSNP ID
Origin
Segregation
Frequency
Re-site
VIP
Methylation
Template
Technique
Tissue
Remarks
Disease
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Panel size
Owner
+?/.
-
c.(?_-1)_(480+1_481-1)del
r.?
p.?
Unknown
ACMG
VUS
g.(?_95372482)_(95372963_95380388)del
g.(?_93612725)_(93613206_93620631)del
1-?_480+?del
-
PDE6C_000083
-
-
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ-NG-I
-
-
ACHM
IR_GH_0074
-
-
F
-
Korea, South (Republic)
-
-
-
-
-
1
Jinu Han
+?/.
-
c.78del
r.(?)
p.(Lys27Serfs*27)
Unknown
ACMG
likely pathogenic
g.95372560del
g.93612803del
PDE6C c.78del/p.K27Sfs*27
-
PDE6C_000106
heterozygous
PubMed: Weisschuh 2018
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG, SEQ
blood
targeted next generation sequencing
retinal disease
8
PubMed: Weisschuh 2018
-
-
-
-
-
-
-
-
-
1
LOVD
+/.
1
c.85C>T
r.(?)
p.(Arg29Trp)
Unknown
-
pathogenic
g.95372567C>T
-
c.85C>T
-
PDE6C_000078
-
PubMed: Thiadens_2012
-
-
Unknown
-
-
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
-
PubMed: Thiadens_2012
-
-
no
-
-
-
-
-
-
1
LOVD
+/.
1
c.85C>T
r.(?)
p.(Arg29Trp)
Unknown
-
pathogenic
g.95372567C>T
-
c.85C>T
-
PDE6C_000078
-
PubMed: Thiadens_2012
-
-
Unknown
-
-
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
-
PubMed: Thiadens_2012
-
-
no
-
-
-
-
-
-
1
LOVD
+?/.
-
c.85C>T
r.(?)
p.(Arg29Trp)
Unknown
ACMG
VUS
g.95372567C>T
-
-
-
PDE6C_000078
-
-
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ-NG-I
-
-
ACHM
IR_SH_0035
-
-
F
-
Korea, South (Republic)
-
-
-
-
-
1
Jinu Han
+?/.
-
c.85C>T
r.(?)
p.(Arg29Trp)
Unknown
ACMG
VUS
g.95372567C>T
-
-
-
PDE6C_000078
-
-
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ-NG-I
-
-
ACHM
IR_GH_0025
-
-
M
-
Korea, South (Republic)
-
-
-
-
-
1
Jinu Han
+?/.
-
c.85C>T
r.(?)
p.(Arg29Trp)
Parent #1
-
likely pathogenic
g.95372567C>T
g.93612810C>T
PDE6C c.[85C>T];[85C>T]
-
PDE6C_000078
homozygous; protein change not reported
PubMed: Sun 2020
-
-
Unknown
yes
-
-
-
-
DNA
SEQ-NG
blood
Whole-exome or targeted sequencing
retinal disease
9007
PubMed: Sun 2020
early childhood onset defined as younger than 8y
M
-
China
-
-
-
-
-
1
LOVD
+?/.
-
c.85C>T
r.(?)
p.(Arg29Trp)
Parent #2
-
likely pathogenic
g.95372567C>T
g.93612810C>T
PDE6C c.[85C>T];[85C>T]
-
PDE6C_000078
heterozygous; protein change not reported
PubMed: Sun 2020
-
-
Unknown
yes
-
-
-
-
DNA
SEQ-NG
blood
Whole-exome or targeted sequencing
retinal disease
9007
PubMed: Sun 2020
early childhood onset defined as younger than 8y
M
-
China
-
-
-
-
-
1
LOVD
+?/.
-
c.85C>T
r.(?)
p.(Arg29Trp)
Both (homozygous)
-
likely pathogenic
g.95372567C>T
g.93612810C>T
PDE6C c.85C>T, p.R29W
-
PDE6C_000078
homozyzgous
PubMed: Thiadens 2009
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ
blood
-
retinal disease
AII-1
PubMed: Thiadens 2009
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.85C>T
r.(?)
p.(Arg29Trp)
Both (homozygous)
-
likely pathogenic
g.95372567C>T
g.93612810C>T
PDE6C c.85C>T, p.R29W
-
PDE6C_000078
homozyzgous
PubMed: Thiadens 2009
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ
blood
-
retinal disease
AII-2
PubMed: Thiadens 2009
-
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.85C>T
r.(?)
p.(Arg29Trp)
Parent #1
ACMG
pathogenic (recessive)
g.95372567C>T
g.93612810C>T
-
-
PDE6C_000078
ACMG PS4, PS3, PM2_sup, PM3; only minute catalytic activity that ranged between 4.5% and 8.6% of the normalized chimeric wildtype protein activity; heterozygous
PubMed: Grau 2011
,
PubMed: Andersen 2023
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
CHRO319/II1;Pat81
PubMed: Grau 2011
,
PubMed: Andersen 2023
-
-
-
Denmark
-
-
-
-
-
1
LOVD
+?/.
-
c.85C>T
r.(?)
p.(Arg29Trp)
Parent #2
ACMG
pathogenic
g.95372567C>T
g.93612810C>T
PDE6C c.85C>T/p.R29W
-
PDE6C_000078
heterozygous
PubMed: Weisschuh 2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
blood
targeted next generation sequencing
retinal disease
15
PubMed: Weisschuh 2018
-
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.85C>T
r.(?)
p.(Arg29Trp)
Maternal (confirmed)
-
pathogenic
g.95372567C>T
g.93612810C>T
-
-
PDE6C_000078
-
PubMed: Moon 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
retinal disease
Pat72
PubMed: Moon 2021
-
-
-
Korea
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.85C>T
r.(?)
p.(Arg29Trp)
Unknown
ACMG
likely pathogenic
g.95372567C>T
g.93612810C>T
-
-
PDE6C_000078
no variant 2nd chromosome, case unsolved
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
smMIP-based 105 iMD/AMD genes
macular dystrophy
071005
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.89_99del
r.(?)
p.(Val30GlyfsTer19)
Parent #1
-
likely pathogenic (recessive)
g.95372571_95372581del
g.93612814_93612824del
88_98del
-
PDE6C_000073
-
PubMed: Weisschuh 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
CHRO865
PubMed: Weisschuh 2016
family
-
-
Germany
-
-
-
-
-
1
LOVD
-/.
-
c.203C>T
r.(?)
p.(Thr68Ile)
Unknown
-
benign
g.95372685C>T
g.93612928C>T
PDE6C(NM_006204.4):c.203C>T (p.T68I)
-
PDE6C_000034
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.211G>T
r.(?)
p.(Glu71*)
Unknown
ACMG
likely pathogenic
g.95372693G>T
g.93612936G>T
PDE6C c.211G>T/p.E71*
-
PDE6C_000107
heterozygous
PubMed: Weisschuh 2018
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG, SEQ
blood
targeted next generation sequencing
retinal disease
10
PubMed: Weisschuh 2018
-
-
-
-
-
-
-
-
-
1
LOVD
-?/.
-
c.219G>T
r.(?)
p.(Gly73=)
Unknown
-
likely benign
g.95372701G>T
-
PDE6C(NM_006204.4):c.219G>T (p.G73=)
-
PDE6C_000135
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.221del
r.(?)
p.(Gly74Alafs*69)
Unknown
ACMG
pathogenic
g.95372703del
g.93612946del
-
-
PDE6C_000147
-
Villafuerte-de la Cruz RA, et al., 2023. Submitted
ClinVar-1995570
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
-
-
retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness
3579484
Villafuerte-de la Cruz RA, et al., 2023. Submitted
-
F
likely
Mexico
Hispanic
-
-
-
-
1
Rocio Villafuerte-de la Cruz
-/.
-
c.252G>A
r.(?)
p.(Leu84=)
Unknown
-
benign
g.95372734G>A
g.93612977G>A
PDE6C(NM_006204.4):c.252G>A (p.L84=)
-
PDE6C_000002
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.252G>A
r.(?)
p.(Leu84=)
Unknown
-
benign
g.95372734G>A
g.93612977G>A
PDE6C(NM_006204.4):c.252G>A (p.L84=)
-
PDE6C_000002
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.252G>T
r.(?)
p.(Leu84=)
Unknown
-
benign
g.95372734G>T
g.93612977G>T
PDE6C(NM_006204.3):c.252G>T (p.L84=), PDE6C(NM_006204.4):c.252G>T (p.L84=)
-
PDE6C_000001
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.252G>T
r.(?)
p.(Leu84=)
Unknown
-
likely benign
g.95372734G>T
g.93612977G>T
PDE6C(NM_006204.3):c.252G>T (p.L84=), PDE6C(NM_006204.4):c.252G>T (p.L84=)
-
PDE6C_000001
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.256_257dup
r.(?)
p.(Leu87GlyfsTer57)
Unknown
-
likely pathogenic
g.95372738_95372739dup
g.93612981_93612982dup
PDE6C c.257_258 dupAG, p.L87GfsX57
-
PDE6C_000108
error in annotation, this mutation is actually c.256_257dup; heterozygous
PubMed: Thiadens 2009
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
CII-1
PubMed: Thiadens 2009
-
-
-
-
-
-
-
-
-
1
LOVD
-/.
-
c.282C>T
r.(?)
p.(Asp94=)
Unknown
-
benign
g.95372764C>T
g.93613007C>T
-
-
PDE6C_000025
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.297C>G
r.(?)
p.(Phe99Leu)
Parent #1
ACMG
VUS
g.95372779C>G
g.93613022C>G
-
-
PDE6C_000153
ACMG PM2_sup
PubMed: Andersen 2023
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
ACHM
Fam218Pat84
PubMed: Andersen 2023
family, 2 affected
-
yes
Denmark
-
-
-
-
-
2
Susanne Kohl
?/.
-
c.297C>G
r.(?)
p.(Phe99Leu)
Parent #1
ACMG
VUS
g.95372779C>G
g.93613022C>G
-
-
PDE6C_000153
ACMG PM2_sup
PubMed: Andersen 2023
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
ACHM
Fam218Pat85
PubMed: Andersen 2023
sib
-
yes
Denmark
-
-
-
-
-
1
Susanne Kohl
+/.
1
c.304C>T
r.(?)
p.(Arg102Trp)
Both (homozygous)
-
pathogenic
g.95372786C>T
-
c.304C>T
-
PDE6C_000084
-
PubMed: Sundaram_2014
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Sundaram_2014
-
M
-
-
-
-
-
-
-
1
Julia Lopez
+?/.
-
c.304C>T
r.(?)
p.(Arg102Trp)
Both (homozygous)
ACMG
VUS
g.95372786C>T
g.93613029C>T
PDE6C c.304C>T/p.R102W
-
PDE6C_000084
homozygous
PubMed: Weisschuh 2018
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG, SEQ
blood
targeted next generation sequencing
retinal disease
9
PubMed: Weisschuh 2018
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.305G>A
r.(?)
p.(Arg102Gln)
Maternal (confirmed)
ACMG
likely pathogenic
g.95372787G>A
g.93613030G>A
PDE6C c.305 G > A
-
PDE6C_000138
heterozygous, confirmed on mRNA level
PubMed: Yuan 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
-
panel next-generation sequencing
retinal disease
II:1
PubMed: Yuan 2020
proband
F
yes
China
Chinese
-
-
-
-
1
LOVD
+?/.
-
c.305G>A
r.(?)
p.(Arg102Gln)
Maternal (confirmed)
ACMG
likely pathogenic
g.95372787G>A
g.93613030G>A
PDE6C c.305 G > A
-
PDE6C_000138
heterozygous, confirmed on mRNA level
PubMed: Yuan 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
-
panel next-generation sequencing
retinal disease
II:2
PubMed: Yuan 2020
proband's monozygotic twin sister
F
yes
China
Chinese
-
-
-
-
1
LOVD
+?/.
-
c.305G>A
r.(?)
p.(Arg102Gln)
Maternal (confirmed)
ACMG
likely pathogenic
g.95372787G>A
g.93613030G>A
PDE6C c.305 G > A
-
PDE6C_000138
heterozygous, confirmed on mRNA level
PubMed: Yuan 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
II:4
PubMed: Yuan 2020
proband's younger brother
M
yes
China
Chinese
-
-
-
-
1
LOVD
+?/.
-
c.310C>T
r.(?)
p.(Arg104Trp)
Both (homozygous)
-
likely pathogenic
g.95372792C>T
g.93613035C>T
PDE6C c.310C>T, p.R104W
-
PDE6C_000109
only minute catalytic activity that ranged between 4.5% and 8.6% of the normalized chimeric wildtype protein activity; homozygous
PubMed: Grau 2011
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
CHRO 573/II:1
PubMed: Grau 2011
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.310C>T
r.(?)
p.(Arg104Trp)
Both (homozygous)
-
likely pathogenic
g.95372792C>T
g.93613035C>T
PDE6C c.310C>T, p.R104W
-
PDE6C_000109
only minute catalytic activity that ranged between 4.5% and 8.6% of the normalized chimeric wildtype protein activity; homozygous
PubMed: Grau 2011
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
CHRO 573/II:2
PubMed: Grau 2011
-
-
-
-
-
-
-
-
-
1
LOVD
?/.
-
c.311G>A
r.(?)
p.(Arg104Gln)
Unknown
-
VUS
g.95372793G>A
-
PDE6C(NM_006204.4):c.311G>A (p.R104Q)
-
PDE6C_000062
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.311G>A
r.(?)
p.(Arg104Gln)
Unknown
ACMG
VUS
g.95372793G>A
g.93613036G>A
PDE6C c.311G>A, p.Arg104Gln
-
PDE6C_000062
heterozygous
PubMed: Georgiou 2019
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG, SEQ
-
176 genes associated with retinal dystrophy, panel next-generation sequencing
retinal disease
P1
PubMed: Georgiou 2019
pedigree GC23489, individual P1
F
-
-
Nepali
-
-
-
-
1
LOVD
+?/.
-
c.311G>A
r.(?)
p.(Arg104Gln)
Unknown
-
likely pathogenic
g.95372793G>A
-
PDE6C(NM_006204.4):c.311G>A (p.R104Q)
-
PDE6C_000062
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.316G>A
r.(?)
p.(Gly106Ser)
Unknown
-
VUS
g.95372798G>A
g.93613041G>A
PDE6C(NM_006204.3):c.316G>A (p.G106S)
-
PDE6C_000003
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.326A>T
r.(?)
p.(Glu109Val)
Unknown
ACMG
VUS
g.95372808A>T
g.93613051A>T
PDE6C c.326A>T, p.Glu109Val
-
PDE6C_000110
heterozygous
PubMed: Georgiou 2019
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG, SEQ
-
176 genes associated with retinal dystrophy, panel next-generation sequencing
retinal disease
P4
PubMed: Georgiou 2019
pedigree GC23440, individual P4
F
-
-
British
-
-
-
-
1
LOVD
?/.
-
c.356C>T
r.(?)
p.(Pro119Leu)
Unknown
-
VUS
g.95372838C>T
-
PDE6C(NM_006204.3):c.356C>T (p.P119L)
-
PDE6C_000088
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.398_400del
r.(?)
p.(Glu133del)
Unknown
-
VUS
g.95372880_95372882del
g.93613123_93613125del
PDE6C(NM_006204.4):c.398_400delAAG (p.E133del)
-
PDE6C_000035
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.400G>A
r.(?)
p.(Val134Ile)
Unknown
-
VUS
g.95372882G>A
g.93613125G>A
PDE6C(NM_006204.3):c.400G>A (p.(Val134Ile))
-
PDE6C_000004
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.413T>C
r.(?)
p.(Leu138Ser)
Unknown
-
likely benign
g.95372895T>C
g.93613138T>C
PDE6C(NM_006204.3):c.413T>C (p.L138S), PDE6C(NM_006204.4):c.413T>C (p.L138S)
-
PDE6C_000005
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.413T>C
r.(?)
p.(Leu138Ser)
Unknown
-
VUS
g.95372895T>C
-
PDE6C(NM_006204.3):c.413T>C (p.L138S), PDE6C(NM_006204.4):c.413T>C (p.L138S)
-
PDE6C_000005
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.413T>C
r.(?)
p.(Leu138Ser)
Unknown
ACMG
VUS
g.95372895T>C
g.93613138T>C
PDE6C:NM_006204 c.T413C, p.L138S
-
PDE6C_000005
heterozygous, individual solved, variant non-causal
PubMed: Rodriguez-Munoz 2020
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
-
retinal disease
RPN-230
PubMed: Rodriguez-Munoz 2020
family fRPN-97, proband
F
-
Spain
-
-
-
-
-
1
LOVD
?/.
-
c.413T>C
r.(?)
p.(Leu138Ser)
Unknown
ACMG
VUS
g.95372895T>C
g.93613138T>C
PDE6C:NM_006204 c.T413C, p.L138S
-
PDE6C_000005
heterozygous, individual unsolved, causality of variants unknown
PubMed: Rodriguez-Munoz 2020
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
-
retinal disease
RPN-325
PubMed: Rodriguez-Munoz 2020
-
?
-
Spain
-
-
-
-
-
1
LOVD
+?/.
-
c.421G>C
r.(?)
p.(Gly141Arg)
Parent #1
-
likely pathogenic
g.95372903G>C
g.93613146G>C
PDE6C c.[421G>C];[939+2T>C]
-
PDE6C_000094
heterozygous; protein change not reported
PubMed: Sun 2020
-
-
Unknown
yes
-
-
-
-
DNA
SEQ-NG
blood
Whole-exome or targeted sequencing
retinal disease
8430
PubMed: Sun 2020
-
F
-
China
-
-
-
-
-
1
LOVD
-/.
-
c.447G>A
r.(?)
p.(Thr149=)
Unknown
-
benign
g.95372929G>A
g.93613172G>A
PDE6C(NM_006204.4):c.447G>A (p.T149=)
-
PDE6C_000006
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.480G>T
r.(?)
p.(Lys160Asn)
Unknown
ACMG
VUS
g.95372962G>T
-
-
-
PDE6C_000080
-
-
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ-NG-I
-
-
ACHM
IR_GH_0074
-
-
F
-
Korea, South (Republic)
-
-
-
-
-
1
Jinu Han
+?/.
-
c.481-12T>A
r.spl
p.(Asn161fs*169)
Maternal (confirmed)
-
likely pathogenic
g.95380377T>A
g.93620620T>A
PDE6C c.481-12T>A; p.Asn161fsX169 (activates a cryptic splice site 10 nucleotides upstream of the genuine 3 splice acceptor site)
-
PDE6C_000111
heterozygous
PubMed: Chang 2009
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
CHRO 9_II:3
PubMed: Chang 2009
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.481-12T>A
r.spl
p.(Asn161fs*169)
Maternal (confirmed)
-
likely pathogenic
g.95380377T>A
g.93620620T>A
PDE6C c.481-12T>A
-
PDE6C_000111
heterozygous
PubMed: Chang 2009
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
CHRO 9_II:4
PubMed: Chang 2009
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.490T>C
r.(?)
p.(Phe164Leu)
Unknown
ACMG
likely pathogenic
g.95380398T>C
-
-
-
PDE6C_000050
-
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.490T>C
r.(?)
p.(Phe164Leu)
Both (homozygous)
-
likely pathogenic
g.95380398T>C
g.93620641T>C
PDE6C c.490T>C p.(Phe164Leu)
-
PDE6C_000050
homozygous
PubMed: Méjécase 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
-
retrospective case note review, targeted gene panel testing
retinal disease
49
{PMID:Méjécase 2020:3278337
-
?
-
United Arab Emirates
-
-
-
-
-
1
LOVD
+?/.
-
c.497del
r.(?)
p.(Asp166Alafs*28)
Unknown
ACMG
likely pathogenic
g.95380405del
g.93620648del
PDE6C c.497del/p.D166Afs*28
-
PDE6C_000112
heterozygous
PubMed: Weisschuh 2018
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG, SEQ
blood
targeted next generation sequencing
retinal disease
11
PubMed: Weisschuh 2018
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
2
c.542del
r.(?)
p.(Ala181Glufs*13)
Both (homozygous)
-
likely pathogenic (recessive)
g.95380450del
g.93620693del
-
-
PDE6C_000051
-
PubMed: Boulanger-Scemama 2015
,
PubMed: Boulanger-Scemama 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
123 gene panel
retinal disease
CIC07299
PubMed: Boulanger-Scemama 2015
,
PubMed: Boulanger-Scemama 2019
-
-
-
France
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/.
-
c.595A>G
r.(?)
p.(Lys199Glu)
Unknown
-
pathogenic (recessive)
g.95380503A>G
-
10:95380503A>G ENST00000371447.3:c.595A>G (Lys199Glu)
-
PDE6C_000058
-
PubMed: Carss 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
retinal disease
G005239
PubMed: Carss 2017
-
F
-
United Kingdom (Great Britain)
Europe
-
-
-
-
1
LOVD
+?/.
-
c.595A>G
r.(?)
p.(Lys199Glu)
Unknown
-
likely pathogenic
g.95380503A>G
g.93620746A>G
PDE6C c.595A>G, p.Lys199Glu
-
PDE6C_000058
heterozygous
PubMed: Turro 2020
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole genome sequencing
retinal disease
G005239
PubMed: Turro 2020
only individuals with mutations in retinal disease genes from this publication were inserted into LOVD
?
-
(United Kingdom (Great Britain))
-
-
-
-
-
1
LOVD
?/.
-
c.595A>G
r.(?)
p.(Lys199Glu)
Unknown
ACMG
VUS
g.95380503A>G
g.93620746A>G
PDE6C c.595A>G, p.Lys199Glu
-
PDE6C_000058
heterozygous
PubMed: Georgiou 2019
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG, SEQ
-
176 genes associated with retinal dystrophy, panel next-generation sequencing
retinal disease
P8
PubMed: Georgiou 2019
pedigree GC19847, individual P8
F
-
-
British
-
-
-
-
1
LOVD
+/.
-
c.631G>T
r.(?)
p.(Glu211*)
Both (homozygous)
-
pathogenic (recessive)
g.95380539G>T
-
10:95380539G>T ENST00000371447.3:c.631G>T (Glu211Ter)
-
PDE6C_000059
-
PubMed: Carss 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
retinal disease
G008996
PubMed: Carss 2017
-
F
-
United Kingdom (Great Britain)
Asia-South
-
-
-
-
1
LOVD
+?/.
-
c.631G>T
r.(?)
p.(Glu211*)
Both (homozygous)
-
likely pathogenic
g.95380539G>T
g.93620782G>T
PDE6C c.631G>T, p.Glu211Ter
-
PDE6C_000059
homozygous
PubMed: Turro 2020
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole genome sequencing
retinal disease
G008996
PubMed: Turro 2020
only individuals with mutations in retinal disease genes from this publication were inserted into LOVD
?
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.631G>T
r.(?)
p.(Glu211Ter)
Both (homozygous)
ACMG
pathogenic
g.95380539G>T
g.93620782G>T
PDE6C c.631G>T, p.Glu211Ter
-
PDE6C_000059
homozygous
PubMed: Georgiou 2019
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG, SEQ
-
176 genes associated with retinal dystrophy, panel next-generation sequencing
retinal disease
P3
PubMed: Georgiou 2019
pedigree GC18349, individual P3
F
-
-
Pakistani
-
-
-
-
1
LOVD
+?/.
-
c.633G>C
r.(?)
p.(Glu211Asp)
Parent #1
-
likely pathogenic
g.95380541G>C
g.93620784G>C
PDE6C c.633G>C, p.E211D
-
PDE6C_000113
heterozygous
PubMed: Thiadens 2009
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
DII-1
PubMed: Thiadens 2009
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.633G>C
r.(?)
p.(Glu211Asp)
Parent #1
-
likely pathogenic
g.95380541G>C
g.93620784G>C
PDE6C c.633G>C, p.E211D
-
PDE6C_000113
heterozygous
PubMed: Thiadens 2009
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
DII-2
PubMed: Thiadens 2009
-
-
-
-
-
-
-
-
-
1
LOVD
-?/.
-
c.634-9C>T
r.(=)
p.(=)
Unknown
-
likely benign
g.95380639C>T
g.93620882C>T
PDE6C(NM_006204.3):c.634-9C>T
-
PDE6C_000007
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.648C>G
r.(?)
p.(Tyr216*)
Unknown
-
likely pathogenic
g.95380662C>G
g.93620905C>G
PDE6C c.648C>G(;)1114T>C
-
PDE6C_000095
heterozygous; protein change not reported
PubMed: Sun 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
Whole-exome or targeted sequencing
retinal disease
16648
PubMed: Sun 2020
-
F
-
China
-
-
-
-
-
1
LOVD
+/.
-
c.712C>T
r.(?)
p.(Arg238Ter)
Paternal (confirmed)
-
pathogenic
g.95380726C>T
g.93620969C>T
-
-
PDE6C_000148
-
PubMed: Moon 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
retinal disease
Pat72
PubMed: Moon 2021
-
-
-
Korea
-
-
-
-
-
1
Johan den Dunnen
-/.
-
c.724-15G>T
r.(=)
p.(=)
Unknown
-
benign
g.95381674G>T
g.93621917G>T
PDE6C(NM_006204.4):c.724-15G>T
-
PDE6C_000008
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.752T>C
r.(?)
p.(Phe251Ser)
Both (homozygous)
-
VUS
g.95381717T>C
g.93621960T>C
-
-
PDE6C_000033
-
-
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
F
-
-
-
-
-
-
-
1
IMGAG
?/.
-
c.752T>C
r.(?)
p.(Phe251Ser)
Both (homozygous)
ACMG
VUS
g.95381717T>C
g.93621960T>C
-
-
PDE6C_000033
ACMG PM2
PubMed: Weisschuh 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
ACHM-1192
PubMed: Weisschuh 2024
family, >3 affected
F
-
Germany
-
-
-
-
-
4
Johan den Dunnen
+/.
-
c.775C>T
r.(?)
p.(Arg259Ter)
Unknown
-
pathogenic
g.95381740C>T
g.93621983C>T
-
-
PDE6C_000026
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.775C>T
r.(?)
p.(Arg259*)
Unknown
ACMG
likely pathogenic
g.95381740C>T
g.93621983C>T
PDE6C c.775C>T/p.R259*
-
PDE6C_000026
heterozygous
PubMed: Weisschuh 2018
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG, SEQ
blood
targeted next generation sequencing
retinal disease
8
PubMed: Weisschuh 2018
-
-
-
-
-
-
-
-
-
1
LOVD
-?/.
-
c.801G>A
r.(?)
p.(Thr267=)
Unknown
-
likely benign
g.95381766G>A
g.93622009G>A
PDE6C(NM_006204.3):c.801G>A (p.T267=), PDE6C(NM_006204.4):c.801G>A (p.T267=)
-
PDE6C_000009
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.801G>A
r.(?)
p.(Thr267=)
Unknown
-
VUS
g.95381766G>A
-
PDE6C(NM_006204.3):c.801G>A (p.T267=), PDE6C(NM_006204.4):c.801G>A (p.T267=)
-
PDE6C_000009
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.808T>A
r.(?)
p.(Ser270Thr)
Unknown
-
benign
g.95381773T>A
g.93622016T>A
PDE6C(NM_006204.4):c.808T>A (p.S270T)
-
PDE6C_000010
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.808T>A
r.(?)
p.(Ser270Thr)
Unknown
-
benign
g.95381773T>A
g.93622016T>A
PDE6C(NM_006204.4):c.808T>A (p.S270T)
-
PDE6C_000010
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.826C>T
r.(?)
p.(Arg276*)
Paternal (confirmed)
-
likely pathogenic
g.95381791C>T
g.93622034C>T
PDE6C c.826C>T, p.Arg276X
-
PDE6C_000114
heterozygous
PubMed: Chang 2009
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
CHRO 287
PubMed: Chang 2009
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.827G>A
r.(?)
p.(Arg276Gln)
Unknown
ACMG
VUS
g.95381792G>A
-
-
-
PDE6C_000079
-
-
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ-NG-I
-
-
ACHM
IR_GH_0025
-
-
M
-
Korea, South (Republic)
-
-
-
-
-
1
Jinu Han
?/.
-
c.827G>A
r.(?)
p.(Arg276Gln)
Parent #1
ACMG
VUS
g.95381792G>A
g.93622035G>A
-
-
PDE6C_000079
-
PubMed: Hitti-Malin 2022
,
Journal: Hitti-Malin 2022
-
-
Germline
-
-
-
-
-
DNA
MIPsm
-
smMIPs 105 iMD/AMD genes
retinal disease
070642
PubMed: Hitti-Malin 2022
,
Journal: Hitti-Malin 2022
-
M
-
-
-
-
-
-
-
1
Rebekkah Hitti-Malin
+?/.
-
c.836T>C
r.(?)
p.(Ile279Thr)
Parent #1
ACMG
likely pathogenic
g.95381801T>C
g.93622044T>C
PDE6C c.836T>C/p.I279T
-
PDE6C_000115
heterozygous
PubMed: Weisschuh 2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
blood
targeted next generation sequencing
retinal disease
15
PubMed: Weisschuh 2018
-
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.857del
r.(?)
p.(Lys286Argfs*16)
Both (homozygous)
-
pathogenic (recessive)
g.95381822del
g.93622065del
-
-
PDE6C_000063
-
PubMed: Matet 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
Pat16
PubMed: Matet 2018
-
M
yes
-
Africa-North
-
-
-
-
1
LOVD
+?/.
-
c.857del
r.(?)
p.(Lys286Argfs*16)
Unknown
-
likely pathogenic
g.95381822del
g.93622065del
PDE6C c.857del, (p.Lys286fs*16)
-
PDE6C_000063
-
PubMed: Matet 2018
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
-
tagreted next-generation sequencing
retinal disease
16
PubMed: Matet 2018
-
M
yes
France
Northern African
-
-
-
-
1
LOVD
+?/.
-
c.857del
r.(?)
p.(Lys286Argfs*16)
Unknown
-
likely pathogenic
g.95381822del
g.93622065del
PDE6C c.857del, (p.Lys286fs*16)
-
PDE6C_000063
-
PubMed: Matet 2018
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
-
tagreted next-generation sequencing
retinal disease
16
PubMed: Matet 2018
-
M
yes
France
Northern African
-
-
-
-
1
LOVD
+?/.
-
c.857del
r.(?)
p.(Lys286Argfs*16)
Both (homozygous)
ACMG
likely pathogenic
g.95381822del
g.93622065del
PDE6C c.857del/p.K286Rfs*16
-
PDE6C_000063
homozygous
PubMed: Weisschuh 2018
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG, SEQ
blood
targeted next generation sequencing
retinal disease
13
PubMed: Weisschuh 2018
-
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.864+1G>A
r.spl?
p.?
Both (homozygous)
-
pathogenic (recessive)
g.95381830G>A
-
10:95381830G>A ENST00000371447.3:c.864+1G>A
-
PDE6C_000060
-
PubMed: Carss 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
retinal disease
G000974
PubMed: Carss 2017
-
F
-
United Kingdom (Great Britain)
Asia-South
-
-
-
-
1
LOVD
+?/.
-
c.864+1G>A
r.spl
p.(?)
Both (homozygous)
-
likely pathogenic
g.95381830G>A
g.93622073G>A
PDE6C c.864+1G>A,
-
PDE6C_000060
homozygous
PubMed: Turro 2020
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole genome sequencing
retinal disease
G000974
PubMed: Turro 2020
only individuals with mutations in retinal disease genes from this publication were inserted into LOVD
?
-
(United Kingdom (Great Britain))
-
-
-
-
-
1
LOVD
+?/.
4i
c.864+1G>A
r.spl?
p.?
Unknown
-
likely pathogenic
g.95381830G>A
-
c.864+1G>A
-
PDE6C_000060
-
PubMed: Maggi_2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Maggi_2021
-
M
-
Switzerland
-
-
-
-
-
1
LOVD
+?/.
4i
c.864+1G>A
r.spl?
p.?
Unknown
-
likely pathogenic
g.95381830G>A
-
c.864+1G>A
-
PDE6C_000060
-
PubMed: Maggi_2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Maggi_2021
-
M
-
Switzerland
-
-
-
-
-
1
LOVD
+/.
-
c.864+1G>A
r.(?)
p.?
Unknown
ACMG
pathogenic
g.95381830G>A
g.93622073G>A
PDE6C c.864+1G>A, Splicing Defect
-
PDE6C_000060
heterozygous
PubMed: Georgiou 2019
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG, SEQ
-
176 genes associated with retinal dystrophy, panel next-generation sequencing
retinal disease
P1
PubMed: Georgiou 2019
pedigree GC23489, individual P1
F
-
-
Nepali
-
-
-
-
1
LOVD
+/.
-
c.864+1G>A
r.(?)
p.?
Both (homozygous)
ACMG
pathogenic
g.95381830G>A
g.93622073G>A
PDE6C c.864+1G>A, Splicing Defect
-
PDE6C_000060
homozygous
PubMed: Georgiou 2019
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG, SEQ
-
176 genes associated with retinal dystrophy, panel next-generation sequencing
retinal disease
P2
PubMed: Georgiou 2019
pedigree GC17774, individual P2
F
-
-
Pakistani
-
-
-
-
1
LOVD
-?/.
-
c.864+13C>T
r.(=)
p.(=)
Unknown
-
likely benign
g.95381842C>T
g.93622085C>T
PDE6C(NM_006204.4):c.864+13C>T
-
PDE6C_000047
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.893T>A
r.(?)
p.(Leu298His)
Unknown
ACMG
VUS
g.95385360T>A
g.93625603T>A
PDE6C c.893T>A, p.Leu298His
-
PDE6C_000116
heterozygous
PubMed: Georgiou 2019
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG, SEQ
-
176 genes associated with retinal dystrophy, panel next-generation sequencing
retinal disease
P4
PubMed: Georgiou 2019
pedigree GC23440, individual P4
F
-
-
British
-
-
-
-
1
LOVD
+?/.
-
c.939+2T>C
r.spl
p.(?)
Parent #2
-
likely pathogenic
g.95385408T>C
g.93625651T>C
PDE6C c.[421G>C];[939+2T>C]
-
PDE6C_000096
heterozygous; protein change not reported
PubMed: Sun 2020
-
-
Unknown
yes
-
-
-
-
DNA
SEQ-NG
blood
Whole-exome or targeted sequencing
retinal disease
8430
PubMed: Sun 2020
-
F
-
China
-
-
-
-
-
1
LOVD
+/.
-
c.939+2T>G
r.spl
p.?
Maternal (confirmed)
ACMG
pathogenic
g.95385408T>G
g.93625651T>G
PDE6C c.939+2T>G, p.?
-
PDE6C_000139
heterozygous
PubMed: Varela 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
-
next-generation sequencing achromatopsia 6 genes panel
retinal disease
Patient A
PubMed: Varela 2020
proband
F
no
-
Latino
-
-
-
-
1
LOVD
?/.
-
c.939+5G>A
r.spl?
p.?
Unknown
-
VUS
g.95385411G>A
g.93625654G>A
-
-
PDE6C_000027
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.939+5G>A
r.spl
p.?
Unknown
-
likely pathogenic
g.95385411G>A
g.93625654G>A
-
-
PDE6C_000027
-
PubMed: Patel 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
10DG1574
PubMed: Patel 2016
-
-
-
Saudi Arabia
-
-
-
-
-
1
LOVD
+?/.
-
c.939+5G>A
r.spl?
p.(?)
Parent #1
-
likely pathogenic
g.95385411G>A
g.93625654G>A
PDE6C, variant 1: c.939+5G>A/p.?, variant 2: c.939+5G>A/p.?
-
PDE6C_000027
solved, homozygous
PubMed: Weisschuh 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
RET8 targeted sequencing panel - see paper
retinal disease
1201
PubMed: Weisschuh 2020
Filing key number: 905, achromatopsia, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.939+5G>A
r.spl?
p.(?)
Parent #1
-
likely pathogenic
g.95385411G>A
g.93625654G>A
PDE6C, variant 1: c.939+5G>A/p.?, variant 2: c.939+5G>A/p.?
-
PDE6C_000027
solved, homozygous
PubMed: Weisschuh 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
Sanger sequencing
retinal disease
1202
PubMed: Weisschuh 2020
Filing key number: 905, achromatopsia, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.939+5G>A
r.spl
p.?
Both (homozygous)
ACMG
VUS
g.95385411G>A
g.93625654G>A
PDE6C c.939+5G>A
-
PDE6C_000027
homozygous
PubMed: Weisschuh 2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
blood
targeted next generation sequencing
retinal disease
1-1
PubMed: Weisschuh 2018
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.939+5G>A
r.spl
p.?
Both (homozygous)
ACMG
VUS
g.95385411G>A
g.93625654G>A
PDE6C c.939+5G>A
-
PDE6C_000027
homozygous
PubMed: Weisschuh 2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
blood
targeted next generation sequencing
retinal disease
1-2
PubMed: Weisschuh 2018
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.939+5G>T
r.spl
p.?
Parent #2
ACMG
likely pathogenic (recessive)
g.95385411G>T
g.93625654G>T
-
-
PDE6C_000154
ACMG PVS1_strong, PM5, PM2_sup
PubMed: Andersen 2023
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
ACHM
Fam218Pat84
PubMed: Andersen 2023
family, 2 affected
-
yes
Denmark
-
-
-
-
-
2
Susanne Kohl
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