Global Variome shared LOVD
IMPG1 (interphotoreceptor matrix proteoglycan 1)
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The variants shown are described using the NM_001563.2 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
association
unclassified
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
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 = singele 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
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Operator
Column type
Example
Matches
Text
Arg
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space
Text
Arg Ser
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|
Text
Arg|Ser
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!
Text
!fs
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^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
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=""
Text
=""
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=""
Text
="p.0"
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!=""
Text
!=""
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!=""
Text
!="p.0"
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combination
Text
*|Ter !fs
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Date
2020
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
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<=
Date
<=2020-06
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>
Date
>2020-06
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>=
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
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|
Numeric
23|24
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!
Numeric
!23
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<
Numeric
<23
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<=
Numeric
<=23
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>
Numeric
>23
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>=
Numeric
>=23
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combination
Numeric
>=20 <30 !23
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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155 entries on 2 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.-33044_*2922741del
r.0?
p.0?
Maternal (confirmed)
-
pathogenic
g.73709065_76815249del
-
-
-
KHDC3L_000005
decreased gene dosage
PubMed: DDDS 2015
,
Journal: DDDS 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG-I
-
-
?
-
PubMed: DDDS 2015
,
Journal: DDDS 2015
family, affected parents
M
-
United Kingdom (Great Britain)
-
-
-
Decipher
-
2
Johan den Dunnen
-/.
15
c.?
r.(?)
p.?
Unknown
-
benign
g.?
-
c.2240C>T
-
IMPG1_000056
-
PubMed: Abdel Aziz 2005
-
rs10943299
Germline
-
-
-
-
-
DNA
PCR
-
-
retinal disease
-
PubMed: Abdel Aziz 2005
-
-
-
Spain
Spanish
-
-
-
-
1
LOVD
-/.
16
c.?
r.(?)
p.?
Unknown
-
benign
g.?
-
c.2262G>A
-
IMPG1_000056
-
PubMed: Abdel Aziz 2005
-
rs3734313
Germline
-
-
-
-
-
DNA
PCR
-
-
retinal disease
-
PubMed: Abdel Aziz 2005
-
-
-
Spain
Spanish
-
-
-
-
1
LOVD
-/.
17
c.?
r.(?)
p.?
Unknown
-
benign
g.?
-
c.2412G>A
-
IMPG1_000056
-
PubMed: Abdel Aziz 2005
-
rs3778005
Germline
-
-
-
-
-
DNA
PCR
-
-
retinal disease
-
PubMed: Abdel Aziz 2005
-
-
-
Spain
Spanish
-
-
-
-
1
LOVD
-?/.
-
c.15T>C
r.(?)
p.(Thr5=)
Unknown
-
likely benign
g.76782191A>G
-
IMPG1(NM_001563.4):c.15T>C (p.T5=)
-
IMPG1_000098
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
1i_6i
c.145-212_772-211insA
r.spl?
p.?
Unknown
-
benign
g.76728681_76751978insT
-
IVS2-212insA
-
IMPG1_000061
-
PubMed: Abdel Aziz 2005
-
-
Germline
-
16.5% (in 100 controls)
-
-
-
DNA
PCR
-
-
retinal disease
-
PubMed: Abdel Aziz 2005
-
-
-
Spain
Spanish
-
-
-
-
1
LOVD
-/.
-
c.173G>A
r.(?)
p.(Arg58Lys)
Unknown
-
benign
g.76751738C>T
g.76042021C>T
IMPG1(NM_001563.3):c.173G>A (p.R58K), IMPG1(NM_001563.4):c.173G>A (p.R58K)
-
IMPG1_000007
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.173G>A
r.(?)
p.(Arg58Lys)
Unknown
-
benign
g.76751738C>T
g.76042021C>T
IMPG1(NM_001563.3):c.173G>A (p.R58K), IMPG1(NM_001563.4):c.173G>A (p.R58K)
-
IMPG1_000007
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
2
c.184G>A
r.(?)
p.(Asp62Asn)
Unknown
-
VUS
g.76751727C>T
g.76042010C>T
G184A
-
IMPG1_000054
-
PubMed: Katagiri 2014
-
rs137915302
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
RP#029
PubMed: Katagiri 2014
family
-
-
Japan
-
-
-
-
-
1
LOVD
?/.
-
c.205A>G
r.(?)
p.(Lys69Glu)
Unknown
-
VUS
g.76751706T>C
-
IMPG1(NM_001563.4):c.205A>G (p.K69E)
-
chr6_007629
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.257T>A
r.(?)
p.(Met86Lys)
Unknown
-
VUS
g.76751654A>T
-
IMPG1(NM_001563.3):c.257T>A (p.M86K)
-
IMPG1_000033
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.301+19C>G
r.(=)
p.(=)
Unknown
-
benign
g.76751591G>C
g.76041874G>C
IMPG1(NM_001563.4):c.301+19C>G
-
IMPG1_000019
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.316G>C
r.(?)
p.(Val106Leu)
Unknown
ACMG
VUS
g.76744490C>G
g.76034773C>G
IMPG1:NM_001563 c.G316C, p.V106L
-
IMPG1_000071
heterozygous, individual unsolved, causality of variants unknown
PubMed: Rodriguez-Munoz 2020
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
-
retinal disease
RPN-536
PubMed: Rodriguez-Munoz 2020
-
?
-
Spain
-
-
-
-
-
1
LOVD
+?/.
-
c.335del
r.(?)
p.(Ile112Thrfs*47)
Unknown
-
likely pathogenic
g.76744471del
g.76034754del
c.336TC>C; p.I112IX
-
IMPG1_000066
uncertain annotation
PubMed: Kersten 2018
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ-NG
-
Whole-exome sequencing
retinal disease
?
PubMed: Kersten 2018
-
F
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.378G>A
r.(?)
p.(Trp126*)
Unknown
-
pathogenic
g.76744428C>T
g.76034711C>T
CNGB3: c.[1208G>A];[(1208G>A)], p.[R403Q];[(R403Q)], CNGA3: c.[1777G>A];[=], p.[E593K];[=], IMPG1: c.[378C>T];[=] (wrror in annotation, this protein truncation is caused by 378G>A), p.[W126*];[=]
-
IMPG1_000067
-
PubMed: Burkhard 2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
blood
-
retinal disease
9
PubMed: Burkhard 2018
-
F
no
-
-
-
-
-
-
1
LOVD
+?/.
-
c.378G>A
r.(?)
p.(Trp126*)
Parent #1
-
likely pathogenic
g.76744428C>T
g.76034711C>T
IMPG1, variant 1: c.378G>A/p.W126*
-
IMPG1_000067
solved, heterozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
RET8 targeted sequencing panel - see paper
retinal disease
830
PubMed: Weisschuh 2020
Filing key number: 342, macular dystrophy, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.421G>T
r.(?)
p.(Gly141*)
Unknown
-
likely pathogenic
g.76744385C>A
-
IMPG1(NM_001563.3):c.421G>T (p.G141*)
-
IMPG1_000081
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.425A>G
r.(?)
p.(Lys142Arg)
Unknown
-
VUS
g.76744381T>C
g.76034664T>C
-
-
IMPG1_000050
0/1266 control chromosomes
PubMed: Xu 2015
-
-
Germline
-
1/314 case chromosomes
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
RP298
PubMed: Xu 2014
patient
M
-
China
-
-
-
-
-
1
LOVD
?/.
-
c.432C>G
r.(?)
p.(Phe144Leu)
Unknown
-
VUS
g.76744374G>C
g.76034657G>C
-
-
IMPG1_000049
0/1266 control chromosomes
PubMed: Xu 2015
-
-
Germline
-
1/314 case chromosomes
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
RP281
PubMed: Xu 2014
patient
F
-
China
-
-
-
-
-
1
LOVD
+?/.
-
c.461T>C
r.(?)
p.(Leu154Pro)
Maternal (inferred)
-
likely pathogenic
g.76744345A>G
g.76034628A>G
IMPG1 c.461T>C (p.Leu154Pro)
-
IMPG1_000085
heterozygous
PubMed: Manes 2013
-
-
Germline
yes
-
-
-
-
DNA
STR, SEQ
blood
-
retinal disease
NAL69_II:2
PubMed: Manes 2013
-
F
-
France
French
-
-
-
-
1
LOVD
+?/.
-
c.461T>C
r.(?)
p.(Leu154Pro)
Maternal (inferred)
-
likely pathogenic
g.76744345A>G
g.76034628A>G
IMPG1 c.461T>C (p.Leu154Pro)
-
IMPG1_000085
heterozygous
PubMed: Manes 2013
-
-
Germline
yes
-
-
-
-
DNA
STR, SEQ
blood
-
retinal disease
NAL69_II:4
PubMed: Manes 2013
-
M
-
France
French
-
-
-
-
1
LOVD
+?/.
11i
c.461T>C
r.(?)
p.(Leu154Pro)
Paternal (confirmed)
-
likely pathogenic
g.76744345A>G
g.76034628A>G
IMPG1 c.461T>C, p.Leu154Pro
-
IMPG1_000085
heterozygous; father also heterozygous, but carried a previous diagnosis of central serous chorioretinopathy
PubMed: Gupta 2019
-
rs713993047
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
?
PubMed: Gupta 2019
proband
F
-
-
-
-
-
-
-
1
LOVD
+?/.
11i
c.461T>C
r.(?)
p.(Leu154Pro)
Unknown
-
likely pathogenic
g.76744345A>G
g.76034628A>G
IMPG1 c.461T>C, p.Leu154Pro
-
IMPG1_000085
heterozygous; father also heterozygous, but carried a previous diagnosis of central serous chorioretinopathy
PubMed: Gupta 2019
-
rs713993047
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
?
PubMed: Gupta 2019
proband's father
M
-
-
-
-
-
-
-
1
LOVD
-/.
4i
c.498-90T>C
r.(=)
p.(=)
Unknown
-
benign
g.76735065A>G
-
IVS4-90T>C
-
IMPG1_000063
-
PubMed: Abdel Aziz 2005
-
rs1341568
Germline
-
-
-
-
-
DNA
PCR
-
-
retinal disease
-
PubMed: Abdel Aziz 2005
-
-
-
Spain
Spanish
-
-
-
-
1
LOVD
-?/.
-
c.498-20C>T
r.(=)
p.(=)
Unknown
-
likely benign
g.76734995G>A
-
IMPG1(NM_001563.4):c.498-20C>T
-
IMPG1_000095
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.503A>G
r.(?)
p.(Asp168Gly)
Unknown
-
VUS
g.76734970T>C
-
IMPG1(NM_001563.4):c.503A>G (p.D168G)
-
IMPG1_000080
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.540T>G
r.(?)
p.(Gly180=)
Unknown
-
benign
g.76734933A>C
g.76025216A>C
IMPG1(NM_001563.3):c.540T>G (p.G180=), IMPG1(NM_001563.4):c.540T>G (p.G180=)
-
IMPG1_000006
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.540T>G
r.(?)
p.(Gly180=)
Unknown
-
benign
g.76734933A>C
g.76025216A>C
IMPG1(NM_001563.3):c.540T>G (p.G180=), IMPG1(NM_001563.4):c.540T>G (p.G180=)
-
IMPG1_000006
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
5i
c.562+75A>T
r.(=)
p.(=)
Unknown
-
benign
g.76734836T>A
-
IVS5+75A>T
-
IMPG1_000062
-
PubMed: Abdel Aziz 2005
-
-
Germline
-
33.3% (in 100 controls)
-
-
-
DNA
PCR
-
-
retinal disease
-
PubMed: Abdel Aziz 2005
-
-
-
Spain
Spanish
-
-
-
-
1
LOVD
?/.
-
c.572A>G
r.(?)
p.(Asn191Ser)
Unknown
-
VUS
g.76731927T>C
-
IMPG1(NM_001563.3):c.572A>G (p.N191S)
-
IMPG1_000069
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.645C>T
r.(?)
p.(Asn215=)
Unknown
-
benign
g.76731854G>A
g.76022137G>A
IMPG1(NM_001563.3):c.645C>T (p.N215=), IMPG1(NM_001563.4):c.645C>T (p.N215=)
-
IMPG1_000029
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.645C>T
r.(?)
p.(Asn215=)
Unknown
-
likely benign
g.76731854G>A
g.76022137G>A
IMPG1(NM_001563.3):c.645C>T (p.N215=), IMPG1(NM_001563.4):c.645C>T (p.N215=)
-
IMPG1_000029
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.650C>T
r.(?)
p.(Thr217Ile)
Unknown
-
benign
g.76731849G>A
g.76022132G>A
IMPG1(NM_001563.4):c.650C>T (p.T217I)
-
IMPG1_000028
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.665del
r.(?)
p.(Thr222LysfsTer22)
Unknown
-
pathogenic
g.76731834del
g.76022117del
-
-
IMPG1_000027
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.667-10T>A
r.(=)
p.(=)
Unknown
-
benign
g.76728585A>T
g.76018868A>T
IMPG1(NM_001563.4):c.667-10T>A
-
IMPG1_000026
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.667-10_667-9del
r.(=)
p.(=)
Unknown
-
benign
g.76728596_76728597del
g.76018879_76018880del
IMPG1(NM_001563.4):c.667-10_667-9delTT
-
IMPG1_000005
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.667-9del
r.(=)
p.(=)
Unknown
-
benign
g.76728597del
g.76018880del
IMPG1(NM_001563.4):c.667-9delT
-
IMPG1_000017
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
6i
c.667-9delT
r.(=)
p.(=)
Unknown
-
benign
g.76728584delA
-
VS6-9delT
-
IMPG1_000060
-
PubMed: Abdel Aziz 2005
-
-
Germline
-
50% (in 100 controls)
-
-
-
DNA
PCR
-
-
retinal disease
-
PubMed: Abdel Aziz 2005
-
-
-
Spain
Spanish
-
-
-
-
1
LOVD
-/.
-
c.667-9dup
r.(=)
p.(=)
Unknown
-
benign
g.76728597dup
g.76018880dup
IMPG1(NM_001563.3):c.667-9dupT, IMPG1(NM_001563.4):c.667-9dupT
-
IMPG1_000018
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.667-9dup
r.(=)
p.(=)
Unknown
-
benign
g.76728597dup
g.76018880dup
IMPG1(NM_001563.3):c.667-9dupT, IMPG1(NM_001563.4):c.667-9dupT
-
IMPG1_000018
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.667-3C>T
r.spl?
p.?
Unknown
-
likely benign
g.76728578G>A
-
IMPG1(NM_001563.3):c.667-3C>T
-
IMPG1_000040
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.713T>C
r.(?)
p.(Leu238Pro)
Parent #1
-
likely pathogenic (dominant)
g.76728529A>G
g.76018812A>G
-
-
IMPG1_000038
-
PubMed: Brandl 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
Fam13–501
PubMed: Brandl 2017
2-generation family, 1 affected
M
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.713T>G
r.(?)
p.(Leu238Arg)
Parent #1
-
pathogenic (dominant)
g.76728529A>C
-
-
-
IMPG1_000035
-
PubMed: Meunier 2014
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
Fam1
PubMed: Meunier 2014
5-generation family, 8 affected (4F, 4M)
F;M
-
France
-
-
-
-
-
8
Johan den Dunnen
+/.
-
c.713T>G
r.(?)
p.(Leu238Arg)
Parent #1
-
pathogenic (dominant)
g.76728529A>C
-
-
-
IMPG1_000035
-
PubMed: Meunier 2014
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
Fam2
PubMed: Meunier 2014
3-generation family, 2 affected (2M)
M
-
France
-
-
-
-
-
2
Johan den Dunnen
+?/.
-
c.713T>G
r.(?)
p.(Leu238Arg)
Paternal (inferred)
-
likely pathogenic
g.76728529A>C
g.76018812A>C
IMPG1 c.713T>G (p.Leu238Arg)
-
IMPG1_000035
heterozygous
PubMed: Manes 2013
-
-
Germline
yes
-
-
-
-
DNA
STR, SEQ-NG, SEQ
blood
-
retinal disease
MTP327_IV:2
PubMed: Manes 2013
-
F
-
France
French
-
-
-
-
1
LOVD
+?/.
-
c.713T>G
r.(?)
p.(Leu238Arg)
Paternal (inferred)
-
likely pathogenic
g.76728529A>C
g.76018812A>C
IMPG1 c.713T>G (p.Leu238Arg)
-
IMPG1_000035
heterozygous
PubMed: Manes 2013
-
-
Germline
yes
-
-
-
-
DNA
STR, SEQ-NG, SEQ
blood
-
retinal disease
MTP327_IV:4
PubMed: Manes 2013
-
M
-
France
French
-
-
-
-
1
LOVD
+?/.
-
c.713T>G
r.(?)
p.(Leu238Arg)
Paternal (inferred)
-
likely pathogenic
g.76728529A>C
g.76018812A>C
IMPG1 c.713T>G (p.Leu238Arg)
-
IMPG1_000035
heterozygous
PubMed: Manes 2013
-
-
Germline
yes
-
-
-
-
DNA
STR, SEQ-NG, SEQ
blood
-
retinal disease
MTP327_IV:6
PubMed: Manes 2013
-
M
-
France
French
-
-
-
-
1
LOVD
+?/.
-
c.713T>G
r.(?)
p.(Leu238Arg)
Maternal (confirmed)
-
likely pathogenic
g.76728529A>C
g.76018812A>C
IMPG1 c.713T>G (p.Leu238Arg)
-
IMPG1_000035
heterozygous
PubMed: Manes 2013
-
-
Germline
yes
-
-
-
-
DNA
STR, SEQ-NG, SEQ
blood
-
retinal disease
MTP327_V:2
PubMed: Manes 2013
-
F
-
France
French
-
-
-
-
1
LOVD
+?/.
-
c.713T>G
r.(?)
p.(Leu238Arg)
Maternal (confirmed)
-
likely pathogenic
g.76728529A>C
g.76018812A>C
IMPG1 c.713T>G (p.Leu238Arg)
-
IMPG1_000035
heterozygous
PubMed: Manes 2013
-
-
Germline
yes
-
-
-
-
DNA
STR, SEQ-NG, SEQ
blood
-
retinal disease
MTP327_V:3
PubMed: Manes 2013
-
F
-
France
French
-
-
-
-
1
LOVD
+?/.
-
c.713T>G
r.(?)
p.(Leu238Arg)
Maternal (confirmed)
-
likely pathogenic
g.76728529A>C
g.76018812A>C
IMPG1 c.713T>G (p.Leu238Arg)
-
IMPG1_000035
heterozygous
PubMed: Manes 2013
-
-
Germline
yes
-
-
-
-
DNA
STR, SEQ-NG, SEQ
blood
-
retinal disease
MTP327_V:4
PubMed: Manes 2013
-
M
-
France
French
-
-
-
-
1
LOVD
+?/.
-
c.713T>G
r.(?)
p.(Leu238Arg)
Paternal (confirmed)
-
likely pathogenic
g.76728529A>C
g.76018812A>C
IMPG1 c.713T>G (p.Leu238Arg)
-
IMPG1_000035
heterozygous
PubMed: Manes 2013
-
-
Germline
yes
-
-
-
-
DNA
STR, SEQ-NG, SEQ
blood
-
retinal disease
MTP327_V:5
PubMed: Manes 2013
-
M
-
France
French
-
-
-
-
1
LOVD
+?/.
-
c.713T>G
r.(?)
p.(Leu238Arg)
Paternal (confirmed)
-
likely pathogenic
g.76728529A>C
g.76018812A>C
IMPG1 c.713T>G (p.Leu238Arg)
-
IMPG1_000035
heterozygous
PubMed: Manes 2013
-
-
Germline
yes
-
-
-
-
DNA
STR, SEQ-NG, SEQ
blood
-
retinal disease
MTP327_V:6
PubMed: Manes 2013
-
F
-
France
French
-
-
-
-
1
LOVD
+?/.
-
c.713T>G
r.(?)
p.(Leu238Arg)
Paternal (inferred)
-
likely pathogenic
g.76728529A>C
g.76018812A>C
IMPG1 c.713T>G (p.Leu238Arg)
-
IMPG1_000035
heterozygous
PubMed: Manes 2013
-
-
Germline
yes
-
-
-
-
DNA
STR, SEQ-NG, SEQ
blood
-
retinal disease
MTP1290_III:1
PubMed: Manes 2013
-
F
-
France
French
-
-
-
-
1
LOVD
+?/.
-
c.713T>G
r.(?)
p.(Leu238Arg)
Paternal (inferred)
-
likely pathogenic
g.76728529A>C
g.76018812A>C
IMPG1 c.713T>G (p.Leu238Arg)
-
IMPG1_000035
heterozygous
PubMed: Manes 2013
-
-
Germline
yes
-
-
-
-
DNA
STR, SEQ-NG, SEQ
blood
-
retinal disease
MTP1290_III:4
PubMed: Manes 2013
-
M
-
France
French
-
-
-
-
1
LOVD
+?/.
-
c.713T>G
r.(?)
p.(Leu238Arg)
Paternal (inferred)
-
likely pathogenic
g.76728529A>C
g.76018812A>C
IMPG1 c.713T>G (p.Leu238Arg)
-
IMPG1_000035
heterozygous
PubMed: Manes 2013
-
-
Germline
yes
-
-
-
-
DNA
STR, SEQ-NG, SEQ
blood
-
retinal disease
MTP1290_III:5
PubMed: Manes 2013
-
M
-
France
French
-
-
-
-
1
LOVD
+?/.
-
c.713T>G
r.(?)
p.(Leu238Arg)
Maternal (inferred)
-
likely pathogenic
g.76728529A>C
g.76018812A>C
IMPG1 c.713T>G (p.Leu238Arg)
-
IMPG1_000035
heterozygous
PubMed: Manes 2013
-
-
Germline
yes
-
-
-
-
DNA
STR, SEQ-NG, SEQ
blood
-
retinal disease
MD0531_II:3
PubMed: Manes 2013
-
M
-
Spain
Spanish
-
-
-
-
1
LOVD
+?/.
-
c.713T>G
r.(?)
p.(Leu238Arg)
Maternal (inferred)
-
likely pathogenic
g.76728529A>C
g.76018812A>C
IMPG1 c.713T>G (p.Leu238Arg)
-
IMPG1_000035
heterozygous
PubMed: Manes 2013
-
-
Germline
yes
-
-
-
-
DNA
STR, SEQ-NG, SEQ
blood
-
retinal disease
MD0531_III:1
PubMed: Manes 2013
-
F
-
Spain
Spanish
-
-
-
-
1
LOVD
+?/.
-
c.713T>G
r.(?)
p.(Leu238Arg)
Maternal (inferred)
-
likely pathogenic
g.76728529A>C
g.76018812A>C
IMPG1 c.713T>G (p.Leu238Arg)
-
IMPG1_000035
heterozygous
PubMed: Manes 2013
-
-
Germline
yes
-
-
-
-
DNA
STR, SEQ-NG, SEQ
blood
-
retinal disease
MD0531_III:5
PubMed: Manes 2013
-
F
-
Spain
Spanish
-
-
-
-
1
LOVD
+?/.
-
c.713T>G
r.(?)
p.(Leu238Arg)
Paternal (confirmed)
-
likely pathogenic
g.76728529A>C
g.76018812A>C
IMPG1 c.713T>G (p.Leu238Arg)
-
IMPG1_000035
heterozygous
PubMed: Manes 2013
-
-
Germline
yes
-
-
-
-
DNA
STR, SEQ-NG, SEQ
blood
-
retinal disease
MD0531_III:8
PubMed: Manes 2013
-
M
-
Spain
Spanish
-
-
-
-
1
LOVD
?/.
-
c.742A>G
r.(?)
p.(Lys248Glu)
Unknown
-
VUS
g.76728500T>C
g.76018783T>C
IMPG1(NM_001563.4):c.742A>G (p.K248E)
-
IMPG1_000015
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.753C>T
r.(?)
p.(Leu251=)
Unknown
-
benign
g.76728489G>A
g.76018772G>A
IMPG1(NM_001563.3):c.753C>T (p.L251=), IMPG1(NM_001563.4):c.753C>T (p.L251=)
-
IMPG1_000014
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.753C>T
r.(?)
p.(Leu251=)
Unknown
-
likely benign
g.76728489G>A
g.76018772G>A
IMPG1(NM_001563.3):c.753C>T (p.L251=), IMPG1(NM_001563.4):c.753C>T (p.L251=)
-
IMPG1_000014
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.767C>G
r.(?)
p.(Ser256Cys)
Unknown
-
VUS
g.76728475G>C
g.76018758G>C
-
-
IMPG1_000048
2/1266 control chromosomes
PubMed: Xu 2015
-
-
Germline
-
1/314 case chromosomes
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
RP224
PubMed: Xu 2014
-
-
-
China
-
-
-
-
-
1
LOVD
-?/.
-
c.771A>G
r.(?)
p.(Pro257=)
Unknown
-
likely benign
g.76728471T>C
-
IMPG1(NM_001563.4):c.771A>G (p.P257=)
-
IMPG1_000079
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
7
c.773A>G
r.(?)
p.(Tyr258Cys)
Unknown
-
VUS
g.76728469T>C
g.76018752T>C
A773G
-
IMPG1_000053
-
PubMed: Katagiri 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
RP#023
PubMed: Katagiri 2014
family
-
-
Japan
-
-
-
-
-
1
LOVD
?/.
-
c.776A>C
r.(?)
p.(Tyr259Ser)
Unknown
-
VUS
g.76728466T>G
g.76018749T>G
-
-
IMPG1_000047
0/1266 control chromosomes
PubMed: Xu 2015
-
-
Germline
-
1/314 case chromosomes
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
RP021
PubMed: Xu 2014
family
M
-
China
-
-
-
-
-
1
LOVD
?/.
-
c.776A>C
r.(?)
p.(Tyr259Ser)
Unknown
-
VUS
g.76728466T>G
-
IMPG1(NM_001563.4):c.776A>C (p.Y259S)
-
IMPG1_000047
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.807+1G>C
r.spl
p.(?)
Parent #1
-
likely pathogenic
g.76728434C>G
g.76018717C>G
IMPG1, variant 1: c.807+1G>C/p.?, variant 2: c.807+1G>C/p.?
-
IMPG1_000075
solved, homozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
RET6 targeted sequencing panel - see paper
retinal disease
211
PubMed: Weisschuh 2020
Filing key number: 75, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.807+1G>T
r.spl
p.?
Both (homozygous)
-
likely pathogenic
g.76728434C>A
g.76018717C>A
IMPG1 c.807+1G>T
-
IMPG1_000084
homozygous
PubMed: Manes 2013
-
-
Germline
yes
-
-
-
-
DNA
STR, SEQ
blood
-
retinal disease
NA1863_II:1
PubMed: Manes 2013
parents had tiny extramacular deposits, which suggests that the c.461T>C and c.807+1G>T changes could be sufficient to cause subclinical retinal abnormalities
M
yes
Italy
Italian
-
-
-
-
1
LOVD
+?/.
-
c.807+1G>T
r.spl
p.?
Both (homozygous)
-
likely pathogenic
g.76728434C>A
g.76018717C>A
IMPG1 c.807+1G>T
-
IMPG1_000084
homozygous
PubMed: Manes 2013
-
-
Germline
yes
-
-
-
-
DNA
STR, SEQ
blood
-
retinal disease
NA1863_II:2
PubMed: Manes 2013
parents had tiny extramacular deposits, which suggests that the c.461T>C and c.807+1G>T changes could be sufficient to cause subclinical retinal abnormalities
F
yes
Italy
Italian
-
-
-
-
1
LOVD
+?/.
-
c.807+2T>A
r.spl
p.(?)
Unknown
-
likely pathogenic
g.76728433A>T
g.76018716A>T
IMPG1 c.807+2T>A,
-
IMPG1_000074
heterozygous
PubMed: Turro 2020
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole genome sequencing
retinal disease
G009838
PubMed: Turro 2020
only individuals with mutations in retinal disease genes from this publication were inserted into LOVD
?
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.807+5G>A
r.(667_807del,?)
p.(Glu223_Gln269del,?)
Both (homozygous)
-
pathogenic (recessive)
g.76728430C>T
g.76018713C>T
-
-
IMPG1_000037
effect RNA predicted from expression cloning HEK293 cells minigene construct
PubMed: Brandl 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
Fam11–151
PubMed: Brandl 2017
2-generation family, 1 affected
M
yes
Turkey
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.809T>G
r.(?)
p.(Met270Arg)
Unknown
-
VUS
g.76720940A>C
g.76011223A>C
IMPG1(NM_001563.3):c.809T>G (p.M270R), IMPG1(NM_001563.4):c.809T>G (p.M270R)
-
IMPG1_000003
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.809T>G
r.(?)
p.(Met270Arg)
Unknown
-
VUS
g.76720940A>C
g.76011223A>C
IMPG1(NM_001563.3):c.809T>G (p.M270R), IMPG1(NM_001563.4):c.809T>G (p.M270R)
-
IMPG1_000003
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.883G>A
r.(?)
p.(Asp295Asn)
Unknown
-
likely benign
g.76717201C>T
g.76007484C>T
IMPG1(NM_001563.3):c.883G>A (p.D295N)
-
IMPG1_000025
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
9i
c.888-48C>T
r.(=)
p.(=)
Unknown
-
benign
g.76715299G>A
-
IVS9-48C>T
-
IMPG1_000059
-
PubMed: Abdel Aziz 2005
-
rs17802616
Germline
-
-
-
-
-
DNA
PCR
-
-
retinal disease
-
PubMed: Abdel Aziz 2005
-
-
-
Spain
Spanish
-
-
-
-
1
LOVD
+/.
-
c.960T>A
r.(?)
p.(Ser320Arg)
Maternal (confirmed)
-
pathogenic (dominant)
g.76715179A>T
-
-
-
IMPG1_000088
-
PubMed: Olivier 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
VMD
FamFPatI1/II1
PubMed: Olivier 2021
2-generation family, affected mother/daughter
F
-
United Kingdom (Great Britain)
-
-
-
-
-
2
Johan den Dunnen
+/.
-
c.960T>A
r.(?)
p.(Ser320Arg)
Maternal (confirmed)
-
pathogenic (dominant)
g.76715179A>T
-
-
-
IMPG1_000088
-
PubMed: Olivier 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
VMD
FamGPatI1/II1
PubMed: Olivier 2021
2-generation family, affected mother/daughter
F
-
United Kingdom (Great Britain)
-
-
-
-
-
2
Johan den Dunnen
+?/.
-
c.976G>T
r.(?)
p.(Asp326Tyr)
Parent #1
-
likely pathogenic
g.76715163C>A
g.76005446C>A
-
-
IMPG1_000045
not in 624 control chromosomes
PubMed: Sun 2015
-
-
Germline
-
1/596 chromosomes
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
HM883
PubMed: Sun 2015
proband
-
-
China
-
-
-
-
-
1
LOVD
?/.
-
c.976G>T
r.(?)
p.(Asp326Tyr)
Unknown
ACMG
VUS
g.76715163C>A
g.76005446C>A
IMPG1 c.[742G>T];[742=], V1: c.742G>T, (p.Asp248Tyr)
-
IMPG1_000045
different transcript: ENST00000264448.6(ALMS1):c.10825_10826del, (p.Arg3609AlafsTer6); heterozygous
PubMed: Chen 2021
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
212 inherited retinal disease-related genes
retinal disease
F236
PubMed: Chen 2021
-
?
-
Taiwan
-
-
-
-
-
1
LOVD
?/.
-
c.976G>T
r.(?)
p.(Asp326Tyr)
Parent #1
-
VUS
g.76715163C>A
g.76005446C>A
IMPG1 c.[742G>T];[742=]; p.(Asp248Tyr)
-
IMPG1_000045
different transcript, NM_001282368.1:c.742G>T, p.(Asp248Tyr); heterozygous
PubMed: Chen 2021
-
-
Germline
yes
Taiwan Biobank: 0; GnomAD_exome_East: 0.000544; GnomAD_All: 0.0000398
-
-
-
DNA
SEQ-NG
-
targeted 212 IRD-related genes
retinal disease
F236
PubMed: Chen 2021
-
-
-
Taiwan
-
-
-
-
-
1
LOVD
?/.
-
c.1016C>A
r.(?)
p.(Thr339Asn)
Unknown
-
VUS
g.76715123G>T
-
IMPG1(NM_001563.4):c.1016C>A (p.T339N)
-
IMPG1_000078
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.1069A>G
r.(?)
p.(Arg357Gly)
Unknown
-
VUS
g.76715070T>C
g.76005353T>C
IMPG1(NM_001563.3):c.1069A>G (p.R357G)
-
IMPG1_000024
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.1157C>A
r.(?)
p.(Ala386Asp)
Unknown
-
pathogenic
g.76713646G>T
-
6:76713646G>T ENST00000369950.3:c.1157C>A (Ala386Asp)
-
IMPG1_000041
-
PubMed: Carss 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
retinal disease
W000247
PubMed: Carss 2017
-
M
-
United Kingdom (Great Britain)
Europe
-
-
-
-
1
LOVD
+?/.
-
c.1157C>A
r.(?)
p.(Ala386Asp)
Unknown
-
likely pathogenic
g.76713646G>T
g.76003929G>T
IMPG1 c.1157C>A, p.Ala386Asp
-
IMPG1_000041
heterozygous
PubMed: Turro 2020
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole genome sequencing
retinal disease
W000247
PubMed: Turro 2020
only individuals with mutations in retinal disease genes from this publication were inserted into LOVD
?
-
-
-
-
-
-
-
1
LOVD
-/.
-
c.1191A>G
r.(?)
p.(Thr397=)
Unknown
-
benign
g.76713612T>C
g.76003895T>C
IMPG1(NM_001563.4):c.1191A>G (p.T397=)
-
IMPG1_000023
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
11i
c.1212+2T>C
r.spl
p.?
Paternal (inferred)
-
likely pathogenic (dominant)
g.76713589A>G
g.76003872A>G
IMPG1 IVS11 + 2T>C (c.1212 + 2 T > C)
-
IMPG1_000082
heterozygous; parents do not have this mutation
PubMed: Gonzalez Gomez 2019
-
-
De novo
?
-
-
-
-
DNA
SEQ
blood
-
retinal disease
?
PubMed: Gonzalez Gomez 2019
-
-
-
-
-
-
-
-
-
1
LOVD
-?/.
-
c.1228C>A
r.(?)
p.(Pro410Thr)
Unknown
-
likely benign
g.76712698G>T
-
IMPG1(NM_001563.3):c.1228C>A (p.P410T)
-
IMPG1_000077
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.1235T>C
r.(?)
p.(Leu412Pro)
Unknown
-
VUS
g.76712691A>G
-
-
-
IMPG1_000093
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.1291+1G>T
r.spl
p.(?)
Parent #1
-
likely pathogenic
g.76712634C>A
g.76002917C>A
IMPG1, variant 1 : c.1291+1G>T/p.?, variant 2 : c.1291+1G>T/p.?
-
IMPG1_000073
solved, homozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
RET8 targeted sequencing panel - see paper
retinal disease
828
PubMed: Weisschuh 2020
Filing key number: 339, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
1
LOVD
-/.
-
c.1292-7T>G
r.(=)
p.(=)
Unknown
-
benign
g.76660818A>C
g.75951101A>C
IMPG1(NM_001563.4):c.1292-7T>G
-
IMPG1_000013
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.1317G>A
r.(?)
p.(Met439Ile)
Unknown
-
likely benign
g.76660786C>T
-
IMPG1(NM_001563.4):c.1317G>A (p.M439I)
-
IMPG1_000094
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.1346C>A
r.(?)
p.(Pro449His)
Unknown
-
VUS
g.76660757G>T
g.75951040G>T
-
-
IMPG1_000022
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.1388G>T
r.(?)
p.(Gly463Val)
Unknown
-
benign
g.76660715C>A
g.75950998C>A
IMPG1(NM_001563.4):c.1388G>T (p.G463V)
-
IMPG1_000032
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.1413C>T
r.(?)
p.(Asp471=)
Unknown
-
likely benign
g.76660690G>A
g.75950973G>A
IMPG1(NM_001563.4):c.1413C>T (p.D471=)
-
IMPG1_000031
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.1519C>T
r.(?)
p.(Arg507Ter)
Paternal (confirmed)
-
likely pathogenic
g.76660584G>A
g.75950867G>A
IMPG1 c.1519C>T (p.Arg507*)
-
IMPG1_000083
heterozygous
PubMed: Manes 2013
-
-
Germline
yes
-
-
-
-
DNA
STR, SEQ
blood
-
retinal disease
NAL69_II:2
PubMed: Manes 2013
-
F
-
France
French
-
-
-
-
1
LOVD
+?/.
-
c.1519C>T
r.(?)
p.(Arg507Ter)
Paternal (confirmed)
-
likely pathogenic
g.76660584G>A
g.75950867G>A
IMPG1 c.1519C>T (p.Arg507*)
-
IMPG1_000083
heterozygous
PubMed: Manes 2013
-
-
Germline
yes
-
-
-
-
DNA
STR, SEQ
blood
-
retinal disease
NAL69_II:4
PubMed: Manes 2013
-
M
-
France
French
-
-
-
-
1
LOVD
?/.
13
c.1520G>A
r.(?)
p.(Arg507Gln)
Unknown
-
VUS
g.76660583C>T
g.75950866C>T
G1520A
-
IMPG1_000052
-
PubMed: Katagiri 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
RP#016
PubMed: Katagiri 2014
family
-
-
Japan
-
-
-
-
-
1
LOVD
-?/.
-
c.1545G>A
r.(?)
p.(Met515Ile)
Unknown
-
likely benign
g.76660558C>T
g.75950841C>T
IMPG1(NM_001563.3):c.1545G>A (p.M515I)
-
IMPG1_000012
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.1552C>G
r.(?)
p.(His518Asp)
Unknown
-
benign
g.76660551G>C
g.75950834G>C
-
-
IMPG1_000011
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
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