Global Variome shared LOVD
GUCY2D (guanylate cyclase 2D, membrane (retina-spe...))
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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_000180.3 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
conflicting
association
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arrayMET = array for methylation analysis
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = single molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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1111 entries on 12 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.-20del
r.(?)
p.(=)
Unknown
-
likely benign
g.7906042del
g.8002724del
-
-
GUCY2D_000076
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.-18del
r.(?)
p.(?)
Both (homozygous)
-
likely pathogenic
g.7906044del
g.8002726del
GUCY2D -18 5' UTR 1 bp del (G)
-
GUCY2D_000285
no alteration in cyclase activity, but expected to reduce RNA levels, which in this setup could not be replicated (strong promoter); obsolete nucleotide annotation, correct annotation extrapolated from databases; homozygous
PubMed: Tucker 2004
-
-
In vitro (cloned)
yes
-
-
-
-
DNA
?
-
no alteration in cyclase activity, but expected to reduce RNA levels, which in this setup could not be replicated (strong promoter)
retinal disease
patient 3
PubMed: Tucker 2004
cell line research, original patient from biallelic segregating germline
?
-
-
-
-
-
-
-
1
LOVD
-/.
-
c.-10+5A>G
r.spl?
p.?
Unknown
-
benign
g.7906057A>G
g.8002739A>G
-
-
GUCY2D_000044
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.?
r.(?)
p.?
Parent #1
-
likely pathogenic
g.?
-
Pro701Ser
-
MYH2_000008
-
PubMed: Booij 2005
-
-
Germline
-
-
-
-
-
DNA
DHPLC, PCR, SEQ
blood
-
retinal disease
-
PubMed: Booij 2005
unknown variant 2nd chromosome; not in 60 controls
-
-
-
-
-
-
-
-
1
Julia Lopez
+?/.
-
c.?
r.(?)
p.?
Parent #1
-
likely pathogenic
g.?
-
Pro1069ArgfsX37
-
MYH2_000008
-
PubMed: Booij 2005
-
-
Germline
-
-
-
-
-
DNA
DHPLC, PCR, SEQ
blood
-
retinal disease
-
PubMed: Booij 2005
unknown variant 2nd chromosome; not in 60 controls
-
-
-
-
-
-
-
-
1
Julia Lopez
+?/.
-
c.?
r.(?)
p.?
Parent #1
-
likely pathogenic
g.?
-
Pro701Ser
-
MYH2_000008
-
PubMed: Booij 2005
-
-
Germline
-
-
-
-
-
DNA
DHPLC, PCR, SEQ
blood
-
retinal disease
-
PubMed: Booij 2005
unknown variant 2nd chromosome; not in 60 controls
-
-
-
-
-
-
-
-
1
Julia Lopez
+?/.
-
c.?
r.(?)
p.?
Parent #1
-
likely pathogenic
g.?
-
Arg768Trp
-
MYH2_000008
-
PubMed: Booij 2005
-
-
Germline
-
-
-
-
-
DNA
DHPLC, PCR, SEQ
blood
-
retinal disease
-
PubMed: Booij 2005
unknown variant 2nd chromosome; not in 60 controls
-
-
-
-
-
-
-
-
1
Julia Lopez
-/.
-
c.?
r.(?)
p.?
Parent #1
-
benign
g.?
-
2011C>T
-
MYH2_000008
-
PubMed: Booij 2005
-
-
Germline
-
-
-
-
-
DNA
DHPLC, PCR, SEQ
-
-
retinal disease
-
PubMed: Booij 2005
-
-
-
-
-
-
-
-
-
1
Julia Lopez
-/.
-
c.?
r.(?)
p.?
Parent #1
-
benign
g.?
-
2419C>A
-
MYH2_000008
-
PubMed: Yamanoshita 2005
;
PubMed: Booij 2005
-
-
Germline
-
-
-
-
-
DNA
DHPLC, PCR, SEQ
-
-
retinal disease
-
PubMed: Yamanoshita 2005
-
-
-
-
-
-
-
-
-
1
Julia Lopez
-/.
-
c.?
r.(?)
p.?
Parent #1
-
benign
g.?
-
3528C>T
-
MYH2_000008
-
PubMed: Yamanoshita 2005
;
PubMed: Booij 2005
-
-
Germline
-
-
-
-
-
DNA
DHPLC, PCR, SEQ
-
-
retinal disease
-
PubMed: Yamanoshita 2005
-
-
-
-
-
-
-
-
-
1
Julia Lopez
-/.
-
c.?
r.(?)
p.?
Parent #1
-
benign
g.?
-
814C>T
-
MYH2_000008
-
PubMed: Booij 2005
-
-
Germline
-
-
-
-
-
DNA
DHPLC, PCR, SEQ
-
-
retinal disease
-
PubMed: Booij 2005
-
-
-
-
-
-
-
-
-
1
Julia Lopez
-/.
-
c.?
r.(?)
p.?
Parent #1
-
benign
g.?
-
227G>T
-
MYH2_000008
-
Perrault 1996;
PubMed: Booij 2005
-
-
Germline
-
-
-
-
-
DNA
DHPLC, PCR, SEQ
-
-
retinal disease
-
Perrault 1996
-
-
-
-
-
-
-
-
-
1
Julia Lopez
-/.
2
c.?
r.(?)
p.?
Unknown
-
benign
g.7906613C>T
-
248C?T
-
MYH2_000008
-
PubMed: Li-2009
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
-
PubMed: Li-2009
-
-
-
-
Saudi Arabian
-
-
-
-
1
LOVD
+/.
-
c.?
r.?
p.?
Parent #1
-
pathogenic (dominant)
g.?
-
Arg838Cys
-
MYH2_000008
-
PubMed: Daiger 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
RFS066
PubMed: Daiger 2014
-
-
-
United States
-
-
-
-
-
1
LOVD
?/.
-
c.?
r.(?)
p.(?)
Both (homozygous)
-
VUS
g.?
g.?
DelG hom 5UTR GUCY2D
-
MYH2_000008
homozygous
PubMed: Dharmaraj 2000
-
-
Germline
?
-
-
-
-
DNA
SEQ
-
-
retinal disease
1
PubMed: Dharmaraj 2000
-
?
yes
Canada
Afghan
-
-
-
-
1
LOVD
?/.
-
c.?
r.(?)
p.(?)
Unknown
-
VUS
g.?
g.?
DelG het 5UTR GUCY2D
-
MYH2_000008
single heterozygous
PubMed: Dharmaraj 2000
-
-
Unknown
?
-
-
-
-
DNA
SEQ
-
-
retinal disease
2
PubMed: Dharmaraj 2000
-
?
no
Canada
Egyptian
-
-
-
-
1
LOVD
+?/.
2
c.3G>A
r.(?)
p.(Met1?)
Unknown
-
likely pathogenic
g.7906368G>A
g.8003050G>A
GUCY2D G3A, M11
-
GUCY2D_000308
obsolete annotation, actual nucleotide extrapolated from databases; heterozygous
PubMed: Perrault 2000
-
-
Unknown
?
-
-
-
-
DNA
SEQ
-
-
retinal disease
51
PubMed: Perrault 2000
mutation refering to the whole family, segregation not specified
?
-
France
-
-
-
-
-
1
LOVD
+?/.
2
c.3G>C
r.(?)
p.(Met1?)
Both (homozygous)
-
likely pathogenic
g.7906368G>C
g.8003050G>C
GUCY2D G3C, M1I
-
GUCY2D_000307
obsolete annotation, actual nucleotide extrapolated from databases; homozygous
PubMed: Perrault 2000
-
-
Unknown
?
-
-
-
-
DNA
SEQ
-
-
retinal disease
11
PubMed: Perrault 2000
mutation refering to the whole family, segregation not specified
?
-
Benin
-
-
-
-
-
1
LOVD
-?/.
-
c.49T>C
r.(?)
p.(Cys17Arg)
Unknown
-
likely benign
g.7906414T>C
-
GUCY2D(NM_000180.3):c.49T>C (p.C17R)
-
GUCY2D_000116
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
2
c.52_99dup
r.(?)
p.(Gly18_Leu33dup)
Both (homozygous)
-
likely pathogenic
g.7906417_7906464dup
g.8003099_8003146dup
GUCY2D 52-99Dup48bp
-
GUCY2D_000309
obsolete annotation, actual nucleotide extrapolated from databases; homozygous
PubMed: Perrault 2000
-
-
Unknown
?
-
-
-
-
DNA
SEQ
-
-
retinal disease
85
PubMed: Perrault 2000
mutation refering to the whole family, segregation not specified
?
-
Tunisia
-
-
-
-
-
1
LOVD
-/.
2
c.61T>C
r.(?)
p.(Trp21Arg)
Parent #1
-
benign
g.7906426T>C
g.8003108T>C
-
-
GUCY2D_000007
predicted benign
PubMed: Neveling 2012
-
-
Germline
no
-
-
-
-
DNA
SEQ, SEQ-NG-S
-
-
retinal disease
-
-
-
M
-
-
-
-
-
-
-
1
Kornelia Neveling
-/.
-
c.61T>C
r.(?)
p.(Trp21Arg)
Unknown
-
benign
g.7906426T>C
g.8003108T>C
GUCY2D(NM_000180.3):c.61T>C (p.W21R)
-
GUCY2D_000007
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.74C>T
r.(?)
p.(Ser25Phe)
Unknown
-
VUS
g.7906439C>T
g.8003121C>T
GUCY2D(NM_000180.3):c.74C>T (p.S25F), GUCY2D(NM_000180.4):c.74C>T (p.S25F)
-
GUCY2D_000025
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.74C>T
r.(?)
p.(Ser25Phe)
Unknown
-
likely benign
g.7906439C>T
g.8003121C>T
GUCY2D(NM_000180.3):c.74C>T (p.S25F), GUCY2D(NM_000180.4):c.74C>T (p.S25F)
-
GUCY2D_000025
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.74C>T
r.(?)
p.(Ser25Phe)
Parent #1
-
VUS
g.7906439C>T
-
-
-
GUCY2D_000025
-
PubMed: Wang 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG, PCR, SEQ
-
-
retinal disease
CaseV
PubMed: Wang 2014
-
?
?
United States
-
-
-
-
-
1
Muhammad Ajmal
?/.
-
c.74C>T
r.(?)
p.(Ser25Phe)
Unknown
ACMG
VUS
g.7906439C>T
g.8003121C>T
GUCY2D c.2513G>A, p.(Arg838His), c.74C>T, p.(Ser25Phe)
-
GUCY2D_000025
-
PubMed: Jespersgaar 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
125 genes associated with inherited retinal disorders, see paper supplemental data
retinal disease
144
PubMed: Jespersgaar 2019
-
?
-
Denmark
-
-
-
-
-
1
LOVD
?/.
-
c.74C>T
r.(?)
p.(Ser25Phe)
Unknown
ACMG
VUS
g.7906439C>T
g.8003121C>T
GUCY2D c.2513G>A, p.(Arg838His), c.74C>T, p.(Ser25Phe)
-
GUCY2D_000025
-
PubMed: Jespersgaar 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
125 genes associated with inherited retinal disorders, see paper supplemental data
retinal disease
413
PubMed: Jespersgaar 2019
-
?
-
Denmark
-
-
-
-
-
1
LOVD
?/.
-
c.74C>T
r.(?)
p.(Ser25Phe)
Unknown
-
VUS
g.7906439C>T
-
GUCY2D(NM_000180.3):c.74C>T (p.S25F), GUCY2D(NM_000180.4):c.74C>T (p.S25F)
-
GUCY2D_000025
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.82dup
r.(?)
p.(Arg28ProfsTer291)
Parent #1
-
pathogenic
g.7906447dup
g.8003129dup
82_83insC
-
GUCY2D_000175
-
PubMed: Wang 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
163-gene panel
retinal disease
1686901
PubMed: Wang 2015
index case
-
-
China
-
-
-
-
-
1
LOVD
+?/.
-
c.91dup
r.(?)
p.(Arg31Profs*288)
Maternal (confirmed)
-
likely pathogenic (recessive)
g.7906456dup
g.8003138dup
-
-
GUCY2D_000140
-
PubMed: Thompson 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
Fam2019
PubMed: Thompson 2017
-
-
-
Australia
-
-
-
-
-
1
LOVD
-/.
-
c.111G>A
r.(?)
p.(Pro37=)
Unknown
-
benign
g.7906476G>A
g.8003158G>A
GUCY2D(NM_000180.4):c.111G>A (p.P37=)
-
GUCY2D_000077
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.121C>T
r.(?)
p.(Leu41Phe)
Unknown
-
likely benign
g.7906486C>T
g.8003168C>T
GUCY2D(NM_000180.4):c.121C>T (p.L41F)
-
GUCY2D_000026
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
2
c.121C>T
r.(?)
p.(Leu41Phe)
Unknown
-
likely benign
g.7906486C>T
-
c.121C>T (p.Leu41Phe)
-
GUCY2D_000026
-
PubMed: Vallespin 2007
-
-
Germline
-
-
-
-
-
DNA
arraySEQ
-
-
retinal disease
-
PubMed: Vallespin 2007
-
-
-
Spain
Spanish
-
-
-
-
1
LOVD
+?/.
2
c.121C>T
r.(?)
p.(Leu41Phe)
Unknown
-
likely pathogenic
g.7906486C>T
g.8003168C>T
GUCY2D C121T, L41F
-
GUCY2D_000026
obsolete annotation, actual nucleotide extrapolated from databases; single heterozygous variant, no second allele found
PubMed: Perrault 2000
-
-
Unknown
?
-
-
-
-
DNA
SEQ
-
-
retinal disease
89
PubMed: Perrault 2000
mutation refering to the whole family, segregation not specified
?
-
Tunisia
-
-
-
-
-
1
LOVD
?/.
-
c.129_134del
r.(?)
p.(Leu44_Leu45del)
Unknown
-
VUS
g.7906494_7906499del
g.8003176_8003181del
GUCY2D(NM_000180.3):c.129_134delTCTGCT (p.(Leu44_Leu45del)), GUCY2D(NM_000180.3):c.129_134delTCTGCT (p.L44_L45del), GUCY2D(NM_000180.4):c.129_134de...
-
GUCY2D_000027
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.129_134del
r.(?)
p.(Leu44_Leu45del)
Unknown
-
VUS
g.7906494_7906499del
g.8003176_8003181del
GUCY2D(NM_000180.3):c.129_134delTCTGCT (p.(Leu44_Leu45del)), GUCY2D(NM_000180.3):c.129_134delTCTGCT (p.L44_L45del), GUCY2D(NM_000180.4):c.129_134de...
-
GUCY2D_000027
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.129_134del
r.(?)
p.(Leu44_Leu45del)
Unknown
-
VUS
g.7906494_7906499del
g.8003176_8003181del
-
-
GUCY2D_000027
no genotypes reported
PubMed: Sergouniotis 2016
-
rs552184470
Germline
-
2/486 individuals
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
-
PubMed: Sergouniotis 2016
analysis 486 cases
-
-
United Kingdom (Great Britain)
-
-
-
-
-
2
LOVD
+/.
-
c.129_134del
r.(?)
p.(Leu44_Leu45del)
Unknown
-
pathogenic
g.7906494_7906499del
g.8003176_8003181del
c.124_129del, p.(Leu44_Leu45del)
-
GUCY2D_000027
heterozygous
PubMed: Wang 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
panel of 126 genes
retinal disease
14309
PubMed: Wang 2019
-
M
-
China
-
-
-
-
-
1
LOVD
+?/.
2
c.129_134del
r.(?)
p.(Leu44_Leu45del)
Unknown
-
likely pathogenic
g.7906494_7906499del
-
c.129_134del
-
GUCY2D_000027
-
PubMed: Maggi_2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Maggi_2021
-
F
-
Switzerland
-
-
-
-
-
1
LOVD
+?/.
-
c.129_134del
r.(?)
p.(Leu44_Leu45del)
Parent #2
-
likely pathogenic
g.7906494_7906499del
g.8003176_8003181del
GUCY2D Leu42del6bp
-
GUCY2D_000027
no nucleotide written, extrapolated from protein and databases; most probably deleted nucleotide was meant to be c.129_134del - 3' rule shifts it from Leu 42 to Leu44; heterozygous
PubMed: Jacobson 2012
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
retinal disease
6
PubMed: Jacobson 2012
-
F
-
United States
Scandinavian/European
-
-
-
-
1
LOVD
?/.
-
c.129_134del
r.(?)
p.(Leu44_Leu45del)
Unknown
-
VUS
g.7906494_7906499del
-
GUCY2D(NM_000180.3):c.129_134delTCTGCT (p.(Leu44_Leu45del)), GUCY2D(NM_000180.3):c.129_134delTCTGCT (p.L44_L45del), GUCY2D(NM_000180.4):c.129_134de...
-
GUCY2D_000027
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
2
c.134T>C
r.(?)
p.(Leu45Pro)
Parent #1
-
benign
g.7906499T>C
-
134T>C
-
GUCY2D_000152
-
PubMed: Loyer 1998
;
PubMed: Booij 2005
-
-
Germline
-
-
-
-
-
DNA
DHPLC, PCR, SEQ
-
-
retinal disease
-
PubMed: Loyer 1998
-
-
-
-
-
-
-
-
-
1
Julia Lopez
+?/.
-
c.139delC
r.(?)
p.(Ala49Profs*36)
Maternal (confirmed)
-
likely pathogenic
g.7906509del
g.8003191del
GUCY2D c.139delC (p.Ala49Profs*36)
-
GUCY2D_000275
heterozygous
PubMed: Feng 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
whole-exome sequencing
retinal disease
III:1
PubMed: Feng 2020
family 1, III:1 (proband's older sister)
F
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.139delC
r.(?)
p.(Ala49Profs*36)
Maternal (confirmed)
-
likely pathogenic
g.7906509del
g.8003191del
GUCY2D c.139delC (p.Ala49Profs*36)
-
GUCY2D_000275
heterozygous
PubMed: Feng 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
III:2
PubMed: Feng 2020
family 1, III:2 (proband)
F
-
-
-
-
-
-
-
1
LOVD
-?/.
-
c.142C>T
r.(?)
p.(Pro48Ser)
Unknown
-
likely benign
g.7906507C>T
g.8003189C>T
GUCY2D(NM_000180.3):c.142C>T (p.P48S)
-
GUCY2D_000112
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
2
c.154G>T
r.(?)
p.(Ala52Ser)
Parent #1
-
likely benign
g.7906519G>T
g.8003201G>T
-
-
GUCY2D_000001
predicted unknown effect on function, present at significant fraction in Exome Variant Server
PubMed: Neveling 2012
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG-S
-
-
retinal disease
-
-
-
M
-
-
-
-
-
-
-
1
Kornelia Neveling
-?/.
2
c.154G>T
r.(?)
p.(Ala52Ser)
Parent #2
-
likely benign
g.7906519G>T
g.8003201G>T
-
-
GUCY2D_000001
predicted unknown effect on function, present at significant fraction in Exome Variant Server
PubMed: Neveling 2012
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG-S
-
-
retinal disease
-
-
-
M
-
-
-
-
-
-
-
1
Kornelia Neveling
?/.
2
c.154G>T
r.(?)
p.(Ala52Ser)
Parent #1
-
VUS
g.7906519G>T
g.8003201G>T
-
-
GUCY2D_000001
predicted unknown effect on function, present at significant fraction in Exome Variant Server
PubMed: Neveling 2012
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG-S
-
-
retinal disease
-
-
-
F
-
-
-
-
-
-
-
1
Kornelia Neveling
?/.
2
c.154G>T
r.(?)
p.(Ala52Ser)
Parent #2
-
VUS
g.7906519G>T
g.8003201G>T
-
-
GUCY2D_000001
predicted unknown effect on function, present at significant fraction in Exome Variant Server
PubMed: Neveling 2012
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG-S
-
-
retinal disease
-
-
-
F
-
-
-
-
-
-
-
1
Kornelia Neveling
?/.
2
c.154G>T
r.(?)
p.(Ala52Ser)
Parent #1
-
VUS
g.7906519G>T
g.8003201G>T
-
-
GUCY2D_000001
disease-related variants in other gene; not segregating with disease in other family
PubMed: Neveling 2012
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG-S
-
-
retinal disease
-
-
-
M
-
-
-
-
-
-
-
1
Kornelia Neveling
?/.
2
c.154G>T
r.(?)
p.(Ala52Ser)
Parent #1
-
VUS
g.7906519G>T
g.8003201G>T
-
-
GUCY2D_000001
-
PubMed: Neveling 2012
-
-
Germline
no
-
-
-
-
DNA
SEQ, SEQ-NG-S
-
-
retinal disease
-
-
-
F
-
-
-
-
-
-
-
1
Kornelia Neveling
?/.
2
c.154G>T
r.(?)
p.(Ala52Ser)
Parent #1
-
VUS
g.7906519G>T
g.8003201G>T
-
-
GUCY2D_000001
not segregating with disease in other family
PubMed: Neveling 2012
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG-S
-
-
retinal disease
-
-
-
F
-
-
-
-
-
-
-
1
Kornelia Neveling
?/.
2
c.154G>T
r.(?)
p.(Ala52Ser)
Parent #1
-
VUS
g.7906519G>T
g.8003201G>T
-
-
GUCY2D_000001
not segregating with disease in other family
PubMed: Neveling 2012
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG-S
-
-
retinal disease
-
-
-
F
-
-
-
-
-
-
-
1
Kornelia Neveling
-/.
-
c.154G>T
r.(?)
p.(Ala52Ser)
Unknown
-
benign
g.7906519G>T
g.8003201G>T
GUCY2D(NM_000180.3):c.154G>T (p.A52S), GUCY2D(NM_000180.4):c.154G>T (p.A52S)
-
GUCY2D_000001
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.154G>T
r.(?)
p.(Ala52Ser)
Unknown
-
benign
g.7906519G>T
g.8003201G>T
GUCY2D(NM_000180.3):c.154G>T (p.A52S), GUCY2D(NM_000180.4):c.154G>T (p.A52S)
-
GUCY2D_000001
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.154G>T
r.(?)
p.(Ala52Ser)
Unknown
-
benign
g.7906519G>T
g.8003201G>T
GUCY2D(NM_000180.3):c.154G>T (p.A52S), GUCY2D(NM_000180.4):c.154G>T (p.A52S)
-
GUCY2D_000001
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.154G>T
r.(?)
p.(Ala52Ser)
Unknown
-
benign
g.7906519G>T
g.8003201G>T
GUCY2D(NM_000180.3):c.154G>T (p.A52S), GUCY2D(NM_000180.4):c.154G>T (p.A52S)
-
GUCY2D_000001
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
1
c.159del
r.(?)
p.(Phe54Serfs*31)
Maternal (confirmed)
-
likely pathogenic
g.7906524del
g.8003206del
-
-
GUCY2D_000018
-
-
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
-
-
LCA
-
-
-
M
no
India
India, south
-
-
-
-
1
Soumittra Nagasamy
+?/.
-
c.160T>A
r.(?)
p.(Phe54Ile)
Unknown
-
likely pathogenic
g.7906525T>A
g.8003207T>A
-
-
GUCY2D_000153
-
PubMed: Bravo-Gil 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
68-gene panel
retinal disease
Pat39
PubMed: Bravo-Gil 2017
patient
-
-
Spain
-
-
-
-
-
1
Nereida Bravo Gil
?/.
2
c.162C>G
r.(?)
p.(Phe54Leu)
Unknown
-
VUS
g.7906527C>G
-
c.162C>G:p.F54L
-
GUCY2D_000272
-
PubMed: Numa-2020
-
-
Unknown
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
retinal disease
-
PubMed: Numa 2020
-
M
-
Japan
Japanese
-
-
-
-
1
LOVD
-?/.
-
c.164C>T
r.(?)
p.(Thr55Met)
Unknown
-
likely benign
g.7906529C>T
g.8003211C>T
GUCY2D(NM_000180.3):c.164C>T (p.T55M), GUCY2D(NM_000180.4):c.164C>T (p.T55M)
-
GUCY2D_000028
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.164C>T
r.(?)
p.(Thr55Met)
Unknown
-
benign
g.7906529C>T
g.8003211C>T
GUCY2D(NM_000180.3):c.164C>T (p.T55M), GUCY2D(NM_000180.4):c.164C>T (p.T55M)
-
GUCY2D_000028
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.164C>T
r.(?)
p.(Thr55Met)
Parent #1
-
VUS
g.7906529C>T
g.8003211C>T
-
-
GUCY2D_000028
4 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs201414567
Germline
-
4/2795 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
4
Mohammed Faruq
-?/.
-
c.164C>T
r.(?)
p.(Thr55Met)
Unknown
-
likely benign
g.7906529C>T
g.8003211C>T
-
-
GUCY2D_000028
classification based on frequency in 305 unrelated individuals
PubMed: Le 2019
-
-
Germline
-
frequency 0.015
-
-
-
DNA
SEQ, SEQ-NG
-
105 WGS/200 WES
Healthy/Control
-
PubMed: Le 2019
analysis 305 unrelated individuals
-
-
Viet Nam
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/.
2
c.164C>T
r.(?)
p.(Thr55Met)
Both (homozygous)
-
pathogenic
g.7906529C>T
-
164C>T
-
GUCY2D_000028
-
PubMed: li 2011
-
-
Germline
-
4/87 cases; 0/96 controls
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
-
PubMed: li 2011
-
M
yes
China
Chinese
-
-
-
-
1
LOVD
+/.
2
c.164C>T
r.(?)
p.(Thr55Met)
Both (homozygous)
-
pathogenic
g.7906529C>T
-
164C>T
-
GUCY2D_000028
-
PubMed: li 2011
-
-
Germline
-
4/87 cases; 0/96 controls
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
-
PubMed: li 2011
-
M
yes
China
Chinese
-
-
-
-
1
LOVD
+/.
2
c.164C>T
r.(?)
p.(Thr55Met)
Unknown
-
pathogenic
g.7906529C>T
-
164C>T
-
GUCY2D_000028
-
PubMed: li 2011
-
-
Germline
-
4/87 cases; 0/96 controls
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
-
PubMed: li 2011
-
M
no
China
Chinese
-
-
-
-
1
LOVD
-/.
2
c.164C>T
r.(?)
p.(Thr55Met)
Unknown
-
benign
g.7906529C>T
-
164C>T
-
GUCY2D_000028
-
PubMed: li 2011
-
-
Germline
-
4/87 cases; 0/96 controls
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
-
PubMed: li 2011
-
M
no
China
Chinese
-
-
-
-
1
LOVD
-/.
2
c.164C>T
r.(?)
p.(Thr55Met)
Unknown
-
benign
g.7906529C>T
-
164C>T
-
GUCY2D_000028
-
PubMed: li 2011
-
-
Germline
-
4/87 cases; 0/96 controls
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
-
PubMed: li 2011
-
M
no
China
Chinese
-
-
-
-
1
LOVD
-?/.
2
c.164C>T
r.(?)
p.(Thr55Met)
Unknown
-
likely benign
g.7906529C>T
-
c.164C>T
-
GUCY2D_000028
-
PubMed: Chen-2013
-
-
Unknown
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Chen-2013
-
M
-
China
Chinese
-
-
-
-
1
LOVD
-?/.
2
c.164C>T
r.(?)
p.(Thr55Met)
Unknown
-
likely benign
g.7906529C>T
-
c.164C>T
-
GUCY2D_000028
-
PubMed: Chen-2013
-
-
Unknown
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Chen-2013
-
-
-
China
Chinese
-
-
-
-
1
LOVD
-?/.
2
c.164C>T
r.(?)
p.(Thr55Met)
Unknown
-
likely benign
g.7906529C>T
-
c.164C>T
-
GUCY2D_000028
-
PubMed: Chen-2013
-
-
Unknown
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Chen-2013
-
-
-
China
Chinese
-
-
-
-
1
LOVD
+?/.
2
c.164C>T
r.(?)
p.(Thr55Met)
Unknown
-
likely pathogenic (recessive)
g.7906529C>T
-
c.164C>T
-
GUCY2D_000028
-
PubMed: Liu-2020
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
hereditary eye disease enrichment panel (HEDEP)
retinal disease
-
PubMed: Liu-2020
-
F
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.167_168del
r.(?)
p.(Val56Glyfs*262)
Unknown
-
likely pathogenic
g.7906532_7906533del
g.8003214_8003215del
GUCY2D c.167_168delTG, p.Val56GlyfsTer262; c.738G>C, p.Met246Ile
-
GUCY2D_000276
heterozygous
PubMed: Liu 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
whole-exome sequencing
retinal disease
1-II:2 (Patient 1)
PubMed: Liu 2020
family 1 (MU01), 1-II:2 (Patient 1)
F
-
Japan
Asian
-
-
-
-
1
LOVD
+/.
-
c.174delC
r.(?)
p.(Leu59Trpfs*26)
Both (homozygous)
ACMG
pathogenic
g.7906540del
g.8003222del
GUCY2D NM_000180: g.628delC, c.174delC, p.L59Wfs*26
-
GUCY2D_000246
-
PubMed: Xu 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
targeted next-generation sequencing
retinal disease
67180
PubMed: Xu 2020
-
?
yes
China
-
-
-
-
-
1
LOVD
+?/.
-
c.186G>A
r.(?)
p.(Trp62Ter)
Maternal (confirmed)
-
likely pathogenic
g.7906551G>A
g.8003233G>A
GUCY2D p.W62X (c.186G>A)
-
GUCY2D_000286
heterozygous
PubMed: Preising 2007
-
-
De novo
?
-
-
-
-
DNA
SSCA, SEQ
blood
-
retinal disease
1212_1
PubMed: Preising 2007
family 1212, individual 1
?
-
-
-
-
-
-
-
1
LOVD
+?/.
2
c.226_239del
r.(?)
p.(Ala76Argfs*238)
Both (homozygous)
-
likely pathogenic
g.7906591_7906604del
g.8003273_8003286del
GUCY2D 226-239Del14bp
-
GUCY2D_000310
obsolete annotation, actual nucleotide extrapolated from databases; homozygous
PubMed: Perrault 2000
-
-
Unknown
?
-
-
-
-
DNA
SEQ
-
-
retinal disease
110
PubMed: Perrault 2000
mutation refering to the whole family, segregation not specified
?
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.238_252del
r.(?)
p.(Ala80_Leu84del)
Parent #1
-
pathogenic (recessive)
g.7906603_7906617del
g.8003285_8003299del
17:7906590GGCCGCCCGCCTGGCC>G ENST00000254854.4:c.238_252delGCCGCCGCCCGCCTG (Ala80_Leu84del)
-
GUCY2D_000129
-
PubMed: Carss 2017
,
PubMed: Turro 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
retinal disease
G004991
PubMed: Carss 2017
,
PubMed: Turro 2020
-
F
-
United Kingdom (Great Britain)
Europe
-
-
-
-
1
LOVD
+?/.
-
c.238_252del
r.(?)
p.(Ala80_Leu84del)
Maternal (confirmed)
-
likely pathogenic
g.7906603_7906617del
g.8003285_8003299del
GUCY2D c.238_252del, p.Ala80_Leu84del; c.2620G>A, p.Glu874Lys
-
GUCY2D_000129
heterozygous
PubMed: Liu 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
whole-exome sequencing
retinal disease
2-II:2 (Patient 2)
PubMed: Liu 2020
family 2 (TMC01), 2-II:2 (Patient 2)
M
-
Japan
Asian
-
-
-
-
1
LOVD
+/.
2
c.244_250dup
r.(?)
p.(Leu84Argfs*237)
Unknown
ACMG
pathogenic
g.7906609_7906615dup
g.8003291_8003297dup
NM_000180.3:c.244_250dup, NP_000171.1:p.(Leu84ArgfsTer237), NC_000017.10:g.7906609_7906615dup
-
GUCY2D_000214
-
PubMed: Wang 2018
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
-
exome sequencing
retinal disease
2016061403
PubMed: Wang 2018
-
M
?
China
Han Chinese
-
-
-
-
1
LOVD
+?/.
2
c.244_250dup
r.(?)
p.(Leu84Argfs*237)
Unknown
-
likely pathogenic (recessive)
g.7906609_7906615dup
-
c.244_250dupGCCCGCC
-
GUCY2D_000214
-
PubMed: Liu-2020
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
-
PubMed: Liu-2020
-
F
-
-
-
-
-
-
-
1
LOVD
-?/.
-
c.271G>C
r.(?)
p.(Ala91Pro)
Unknown
-
likely benign
g.7906636G>C
g.8003318G>C
GUCY2D(NM_000180.3):c.271G>C (p.A91P)
-
GUCY2D_000078
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.307G>A
r.(?)
p.(Glu103Lys)
Parent #2
-
pathogenic (recessive)
g.7906672G>A
g.8003354G>A
17:7906672G>A ENST00000254854.4:c.307G>A (Glu103Lys)
-
GUCY2D_000130
-
PubMed: Carss 2017
,
PubMed: Turro 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
retinal disease
G004991
PubMed: Carss 2017
,
PubMed: Turro 2020
-
F
-
United Kingdom (Great Britain)
Europe
-
-
-
-
1
LOVD
+?/.
-
c.307G>A
r.(?)
p.(Glu103Lys)
Maternal (confirmed)
-
likely pathogenic (recessive)
g.7906672G>A
g.8003354G>A
-
-
GUCY2D_000130
-
PubMed: Thompson 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
Fam535
PubMed: Thompson 2017
-
-
-
Australia
-
-
-
-
-
1
LOVD
+?/.
-
c.307G>A
r.(?)
p.(Glu103Lys)
Paternal (confirmed)
-
likely pathogenic (recessive)
g.7906672G>A
g.8003354G>A
-
-
GUCY2D_000130
-
PubMed: Thompson 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
Fam2019
PubMed: Thompson 2017
-
-
-
Australia
-
-
-
-
-
1
LOVD
+/.
2
c.308A>T
r.(?)
p.(Glu103Val)
Unknown
-
pathogenic
g.7906673A>T
-
308A>T
-
GUCY2D_000204
-
PubMed: li 2011
-
-
Germline
-
2/87 cases; 0/96 controls
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
-
PubMed: li 2011
-
F
no
China
Chinese
-
-
-
-
1
LOVD
+/.
2
c.308A>T
r.(?)
p.(Glu103Val)
Unknown
-
pathogenic
g.7906673A>T
-
308A>T
-
GUCY2D_000204
-
PubMed: li 2011
-
-
Germline
-
2/87 cases; 0/96 controls
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
-
PubMed: li 2011
-
F
no
China
Chinese
-
-
-
-
1
LOVD
+?/.
2
c.312_313dup
r.(?)
p.(Cys105Phefs*25)
Parent #1
-
likely pathogenic (recessive)
g.7906677_7906678dup
g.8003359_8003360dup
c.312_313dupTT, p.Cys105Phefs*25
-
GUCY2D_000255
Heterozygous
PubMed: Cho 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
after negative whole exome sequencing whole genome sequencing
retinal disease
25
PubMed: Cho 2020
-
F
-
(United States)
-
-
-
-
-
1
LOVD
+?/.
-
c.314G>A
r.(?)
p.(Cys105Tyr)
Parent #1
-
likely pathogenic
g.7906679G>A
g.8003361G>A
GUCY2D C105Y
-
GUCY2D_000287
protein: reduced RetGC-1 acivity by 50%; no nucleotide annotation, extrapolated from protein; heterozygous
PubMed: Tucker 2004
reduced RetGC-1 acivity by only 50%
-
In vitro (cloned)
yes
-
-
-
-
DNA
?
-
reduced RetGC-1 acivity by 50%
retinal disease
patient 2
PubMed: Tucker 2004
cell line research, original patient from biallelic segregating germline
?
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.314G>A
r.(?)
p.(Cys105Tyr)
Parent #1
-
likely pathogenic
g.7906679G>A
g.8003361G>A
C105T Comp het GUCY2D
-
GUCY2D_000287
error in table - threonine; correct tyrosine in text; compound heterozygous
PubMed: Dharmaraj 2000
-
-
Germline
?
-
-
-
-
DNA
SEQ
-
-
retinal disease
3
PubMed: Dharmaraj 2000
-
?
no
Canada
Egyptian
-
-
-
-
1
LOVD
-/.
-
c.369C>T
r.(?)
p.(Gly123=)
Unknown
-
benign
g.7906734C>T
g.8003416C>T
GUCY2D(NM_000180.3):c.369C>T (p.G123=), GUCY2D(NM_000180.4):c.369C>T (p.G123=)
-
GUCY2D_000029
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.369C>T
r.(?)
p.(Gly123=)
Unknown
-
likely benign
g.7906734C>T
g.8003416C>T
GUCY2D(NM_000180.3):c.369C>T (p.G123=), GUCY2D(NM_000180.4):c.369C>T (p.G123=)
-
GUCY2D_000029
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
4
c.370A>T
r.(?)
p.(Arg124Trp)
Unknown
-
pathogenic
g.43013853A>T
g.44936485A>T
-
-
GUCY2D_000067
-
Sharon, submitted
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
Sharon, submitted
-
M
yes
Israel
Jewish-Ashkenazi
-
-
-
-
2
Dror Sharon
?/.
-
c.380C>G
r.(?)
p.(Pro127Arg)
Unknown
ACMG
VUS
g.7906745C>G
g.8003427C>G
-
-
GUCY2D_000337
ACMG PM2, PM5, PP2
PubMed: Weisschuh 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
STGD-441
PubMed: Weisschuh 2024
patient, no family history
F
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/.
2
c.380C>T
r.(?)
p.(Pro127Leu)
Both (homozygous)
-
pathogenic (dominant)
g.7906745C>T
g.8003427C>T
-
-
GUCY2D_000135
-
PubMed: Birtel 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
Pat168
PubMed: Birtel 2018
patient
M
-
Germany
-
-
-
-
-
1
LOVD
?/.
-
c.380C>T
r.(?)
p.(Pro127Leu)
Unknown
-
VUS
g.7906745C>T
g.8003427C>T
-
-
GUCY2D_000135
-
PubMed: Ellingford 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
105-gene panel
retinal disease
13005797
PubMed: Ellingford 2016
patient
-
-
-
-
-
-
-
-
1
LOVD
+?/.
2
c.387C>A
r.(?)
p.(Asn129Lys)
Unknown
-
likely pathogenic
g.7906752C>A
g.8003434C>A
GUCY2D C387A, N129K
-
GUCY2D_000311
obsolete annotation, actual nucleotide extrapolated from databases; heterozygous
PubMed: Perrault 2000
-
-
Unknown
?
-
-
-
-
DNA
SEQ
-
-
retinal disease
82
PubMed: Perrault 2000
mutation refering to the whole family, segregation not specified
?
-
Italy
-
-
-
-
-
1
LOVD
+?/.
-
c.387delC
r.(?)
p.(Pro130Leufs*36)
Unknown
-
likely pathogenic
g.7906754del
g.8003436del
GUCY2D c.387delC
-
GUCY2D_000066
-
PubMed: Mavrogiannis 2009
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
1_1
PubMed: Hanei 2008
family 1, individual 1
?
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.387delC
r.(?)
p.(Pro130Leufs*36)
Unknown
-
likely pathogenic
g.7906754del
g.8003436del
GUCY2D c.387delC
-
GUCY2D_000066
-
PubMed: Hanei 2008
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
1_2
PubMed: Hanei 2008
family 1, individual 2
?
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.387delC
r.(?)
p.(Pro130Leufs*36)
Unknown
-
likely pathogenic
g.7906754del
g.8003436del
GUCY2D c.387delC
-
GUCY2D_000066
-
PubMed: Hanei 2008
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
2_1
PubMed: Hanei 2008
family 2, individual 1
?
-
-
-
-
-
-
-
1
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