Global Variome shared LOVD
CHM (choroideremia (Rab escort protein 1))
LOVD v.3.0 Build 30b [
Current LOVD status
]
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Curators:
David Baux
and
Alina Radziwon
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This database is one of the
”Retinal and hearing impairment genetic variant databases”
.
The variants shown are described using the NM_000390.2 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
P-domain
: region/domain protein affected
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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1078 entries on 11 pages. Showing entries 1 - 100.
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Effect
Exon
DNA change (cDNA)
RNA change
Protein
P-domain
Allele
Classification method
Clinical classification
DNA change (genomic) (hg19)
DNA change (hg38)
Published as
ISCN
DB-ID
Variant remarks
Reference
ClinVar ID
dbSNP ID
Origin
Segregation
Frequency
Re-site
VIP
Methylation
Template
Technique
Tissue
Remarks
Disease
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Panel size
Owner
+/+
_1_1i
c.-30_49+9142{0}
r.0?
p.0?
-
Unknown
-
pathogenic
g.85293348_85304546del
g.86038344_86049542del
1-2010_49+9140del
-
CHM_000112
hemizygous
PubMed: van den Hurk 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
PubMed: van den Hurk 2003
-
M
-
-
-
-
-
-
-
1
David Baux
+?/+?
_1
-
r.0?
p.0?
-
Unknown
-
likely pathogenic
g.85302644T>C
g.86047640T>C
c.-108A>G
-
CHM_000451
Alteration of transcription observed in a luciferase reporter assay
PubMed: Vaché 2019
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG-I
-
-
CHM
CHM10
PubMed: Vaché 2019
-
M
no
France
-
-
-
-
-
1
David Baux
+/?
_1
-
r.(?)
p.(?)
-
Maternal (inferred)
-
pathogenic
g.85302634G>T
g.86047630G>T
-68C>A/c.-98C>A
-
CHM_000279
hemizygous; The variant was shown to abrogate gene expression in a promoter assay.
PubMed: Radziwon 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
PubMed: Radziwon 2017
-
M
-
-
-
-
-
-
-
1
David Baux
+/+
_1
-
r.(?)
p.(?)
-
Maternal (confirmed)
-
pathogenic
g.85302634G>A
g.86047630G>A
-68C>T/c.-98C>T
-
CHM_000280
hemizygous; The variant was shown to abrogate gene expression in a promoter assay.
PubMed: Radziwon 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
PubMed: Radziwon 2017
-
M
-
-
-
-
-
-
-
1
David Baux
+/+
_1
-
r.0?
p.0?
-
Unknown
ACMG
pathogenic
g.85302626G>C
g.86047622G>C
c.-90C>G
-
CHM_000450
No transcript observed in patient's fibroblasts culture
PubMed: Vaché 2019
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
RT-PCR, SEQ, Western
-
-
CHM
CHM9
PubMed: Vaché 2019
-
M
no
France
-
-
-
-
-
1
David Baux
+?/.
_1_15_
c.(?_-33)_(*3450_?)del
r.0?
p.0?
-
Unknown
-
likely pathogenic
g.?
g.?
CHM Deletion Exons 1-15, putative loss of function
-
USP9X_000005
heterozygous
PubMed: Gliem 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole exome sequencing
retinal disease
116
PubMed: Gliem 2020
-
F
-
(Germany)
-
-
-
-
-
1
LOVD
+?/.
1
c.-30-1_49+1del
r.spl?
p.?
-
Maternal (inferred)
-
likely pathogenic
g.85302487_85302567del
-
Deletion of exon 1
-
CHM_000653
-
PubMed: Dubis 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
5
PubMed: Dubis 2021
-
M
-
-
South Asian
-
-
-
-
1
LOVD
+?/.
1_2i
c.-30-1_116+1del
r.spl?
p.?
-
Maternal (inferred)
-
likely pathogenic
g.85282494_85302567del
-
Duplication of exons 1-2 and 9-12
-
CHM_000650
-
PubMed: Dubis 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
45
PubMed: Dubis 2021
-
M
-
-
Caucasian
-
-
-
-
1
LOVD
+?/.
1_11i
c.-30-1_1413+1del
r.spl?
p.?
-
Maternal (inferred)
-
likely pathogenic
g.85155650_85302567del
-
Deletion of exons 1-11
-
CHM_000640
-
PubMed: Dubis 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
10
PubMed: Dubis 2021
-
M
-
-
Caucasian
-
-
-
-
1
LOVD
+?/.
1_15
c.-30-1_*3450del
r.spl?
p.?
-
Maternal (inferred)
-
likely pathogenic
g.85116185_85302567del
-
Deletion of exon 1-15
-
CHM_000637
-
PubMed: Dubis 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
35
PubMed: Dubis 2021
-
M
-
-
Caucasian
-
-
-
-
1
LOVD
+?/.
1_15
c.-30-1_*3450del
r.spl?
p.?
-
Maternal (inferred)
-
likely pathogenic
g.85116185_85302567del
-
Deletion of exon 1-15
-
CHM_000637
-
PubMed: Dubis 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
38
PubMed: Dubis 2021
-
M
-
-
Caucasian
-
-
-
-
1
LOVD
+/.
1_15
c.-30-1_*3450+1del
r.spl?
p.?
-
Maternal (inferred)
-
pathogenic
g.85116184_85302567del
-
REP-1: E1-E15 deletion
-
CHM_000588
-
PubMed: Zhou 2017
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
retinal disease
-
PubMed: Zhou 2017
-
M
-
China
Chinese
-
-
-
-
1
LOVD
+/.
1_15
c.-30-1_*3450+1del
r.spl?
p.?
-
Maternal (inferred)
-
pathogenic
g.85116184_85302567del
-
REP-1: E1-E15 deletion
-
CHM_000588
-
PubMed: Zhou 2017
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
retinal disease
-
PubMed: Zhou 2017
-
M
-
China
Chinese
-
-
-
-
1
LOVD
+/.
1_15
c.-30-1_*3450+1del
r.spl?
p.?
-
Maternal (inferred)
-
pathogenic
g.85116184_85302567del
-
REP-1: E1-E15 deletion
-
CHM_000588
-
PubMed: Zhou 2017
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
retinal disease
-
PubMed: Zhou 2017
-
M
-
China
Chinese
-
-
-
-
1
LOVD
+/.
1_15
c.-30-1_*3450+1del
r.spl?
p.?
-
Maternal (inferred)
-
pathogenic
g.85116184_85302567del
-
REP-1: E1-E15 deletion
-
CHM_000588
-
PubMed: Zhou 2017
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
retinal disease
-
PubMed: Zhou 2017
-
M
-
China
Chinese
-
-
-
-
1
LOVD
+/+
_1_1i
c.-30_(49+1_50-1){0}
r.0
p.0
-
Maternal (inferred)
-
pathogenic
g.(85282562_85302487)_(85302566_?)del
g.(86027558_86047483)_(85302566_?)del
1-?_79+?del
-
CHM_000095
hemizygous; REP-1 not detected
PubMed: Mc Taggart 2002
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
PubMed: Mc Taggart 2002
-
M
-
-
-
-
-
-
-
1
David Baux
+/+
_1_1i
c.-30_(49+1_50-1){0}
r.0
p.0
-
Maternal (inferred)
-
pathogenic
g.(85282562_85302487)_(85302566_?)del
g.(86027558_86047483)_(85302566_?)del
1-?_79+?del
-
CHM_000095
hemizygous; REP-1 not detected
PubMed: Mc Taggart 2002
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
PubMed: Mc Taggart 2002
-
M
-
-
-
-
-
-
-
1
David Baux
+/+
_1_1i
c.-30_(49+1_50-1){0}
r.0
p.0
-
Unknown
-
pathogenic
g.(85282562_85302487)_(85302566_?)del
g.(86027558_86047483)_(85302566_?)del
1-?_79+?del
-
CHM_000095
heterozygous
PubMed: Yau 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
PubMed: Yau 2007
Carrier
F
-
-
-
-
-
-
-
1
David Baux
?/?
_1_1i
c.-30_(49+1_50-1){0}
r.0
p.0
-
Unknown
-
VUS
g.(85282562_85302487)_(85302566_?)del
g.(86027558_86047483)_(85302566_?)del
1-?_79+?del
-
CHM_000095
heterozygous
PubMed: Aleman TS 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
PubMed: Aleman TS 2017
-
M
-
-
-
-
-
-
-
1
David Baux
+/+
_1_1i
c.-30_(49+1_50-1){0}
r.0
p.0
-
Maternal (inferred)
-
pathogenic
g.(85282562_85302487)_(85302566_?)del
g.(86027558_86047483)_(85302566_?)del
1-?_79+?del
-
CHM_000095
hemizygous
PubMed: van den Hurk 1997
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
PubMed: van den Hurk 1997
-
M
-
-
-
-
-
-
-
1
David Baux
+/+
_1_1i
c.-30_(49+1_50-1){0}
r.0
p.0
-
Maternal (inferred)
-
pathogenic
g.(85282562_85302487)_(85302566_?)del
g.(86027558_86047483)_(85302566_?)del
1-?_79+?del
-
CHM_000095
hemizygous
PubMed: van den Hurk 1997
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
PubMed: van den Hurk 1997
-
M
-
-
-
-
-
-
-
1
David Baux
+/+
_1_2i
c.-30_(116+1_117-1)dup;c.1167-?_1510+?dup
r.0
p.0
-
Maternal (inferred)
-
pathogenic
g.?
-
1-?_146+?dup;1197-?_1540+?dup
-
CHM_000350
hemizygous; Noncontiguous duplication of exons 1-2 and 9-12
PubMed: Edwards TL 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
PubMed: Edwards TL 2017
-
-
-
-
-
-
-
-
-
1
David Baux
+/+
_1_2i
c.-30_(116+1_117-1){0}
r.0
p.0
-
Maternal (inferred)
-
pathogenic
g.(85236814_85282494)_(85302566_?)del
g.(85981810_86027490)_(86047562_?)del
1-?_146+?del
-
CHM_000096
hemizygous
PubMed: van den Hurk 1997
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
PubMed: van den Hurk 1997
-
M
-
-
-
-
-
-
-
1
David Baux
+/+
_1_8i
c.-30_(1166+1_1167-1){0}
r.0
p.0
-
Maternal (inferred)
-
pathogenic
g.(85166344_85211157)_(85302566_?)del
g.(85911339_85956152)_(86047562_?)del
1-?_1196+?del
-
CHM_000097
hemizygous, DXS110-DXS540 del
PubMed: van Bokhoven 1994
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
PubMed: van Bokhoven 1994
-
M
-
Sweden
-
-
-
-
-
1
David Baux
+/+
_1_8i
c.-30_(1166+1_1167-1){0}
r.0
p.0
-
Maternal (inferred)
-
pathogenic
g.(85166344_85211157)_(85302566_?)del
g.(85911339_85956152)_(86047562_?)del
1-?_1196+?del
-
CHM_000097
hemizygous, DXS110-DXS540 del
PubMed: van Bokhoven 1994
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
PubMed: van Bokhoven 1994
-
M
-
Germany
-
-
-
-
-
1
David Baux
+/+
_1_11i
c.-30_(1413+1_1414-1){0}
r.0
p.0
-
Maternal (inferred)
-
pathogenic
g.(85149290_85155650)_(85302566_?)del
g.(85894285_85900645)_(86047562_?)del
1-?_1443+?del
-
CHM_000286
hemizygous
PubMed: Ramsden SC 2013
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
PubMed: Ramsden SC 2013
-
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
David Baux
+/+
_1_12i
c.-30_(1510+1_1511-1){0}
r.0
p.0
-
Unknown
-
pathogenic
g.(85134069_85149192)_(85302566_?)del
g.(85879064_85894187)_(86047562_?)del
1-?_1630+?del
-
CHM_000245
hemizygous
PubMed: Dimopoulos IS 2016
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
CHM
-
PubMed: Dimopoulos IS 2016
No amplification of missing exons
M
-
-
-
-
-
-
-
1
Alina Radziwon
+/+
_1_13i
c.-30_(1609+1_1610-1){0}
r.0
p.0
-
Maternal (inferred)
-
pathogenic
g.(85128218_85133969)_(85302566_?)del
g.(85873213_85878964)_(86047562_?)del
1-?_1639+?del
-
CHM_000098
hemizygous
PubMed: Fujiki 1999
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
PubMed: Fujiki 1999
-
M
-
Japan
-
-
-
-
-
1
David Baux
+/.
1_15
c.-30_*3450del
r.?
p.?
-
Maternal (inferred)
-
pathogenic
g.85116185_85302566del
-
c.(?_-1)_(*1_?)del
-
CHM_000589
-
PubMed: McLaren 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
Targeted NGS of ocular genes (Retinal Dystrophy Panel v8, 244 genes) TaqMan qPCR analysis (exons 4 and 9 sampled)
retinal disease
-
PubMed: McLaren 2020
Proband
M
-
Australia
Australian
-
-
-
-
1
LOVD
+/.
1_15
c.-30_*3450del
r.?
p.?
-
Maternal (inferred)
-
pathogenic
g.85116185_85302566del
-
c.(?_-1)_(*1_?)del
-
CHM_000589
-
PubMed: McLaren 2020
-
-
Germline
yes
-
-
-
-
DNA
TaqMan, PCRq, SEQ
-
Sanger sequencing of CHM
retinal disease
-
PubMed: McLaren 2020
Brother
M
-
Australia
Australian
-
-
-
-
1
LOVD
+/.
1_15
c.-30_*3450del
r.?
p.?
-
Unknown
-
pathogenic
g.85116185_85302566del
-
c.(?_-1)_(*1_?)del
-
CHM_000589
-
PubMed: McLaren 2020
-
-
Germline
yes
-
-
-
-
DNA
TaqMan, PCRq
-
TaqMan qPCR analysis
retinal disease
-
PubMed: McLaren 2020
Mother: Obligate carrier
F
-
Australia
Australian
-
-
-
-
1
LOVD
+/+
_1_15_
c.-30_*3450{0}
r.0
p.0
-
Maternal (inferred)
-
pathogenic
g.(?_85116185)_(85302566_?)del
g.(?_85861180)_(86047562_?)del
1-?_5442+?del
-
CHM_000099
hemizygous; total gene deletion
PubMed: Mc Taggart 2002
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
PubMed: Mc Taggart 2002
-
M
-
-
-
-
-
-
-
1
David Baux
+/+
_1_15_
c.-30_*3450{0}
r.0
p.0
-
Maternal (inferred)
-
pathogenic
g.(?_85116185)_(85302566_?)del
g.(?_85861180)_(86047562_?)del
1-?_5442+?del
-
CHM_000099
hemizygous; total gene deletion
PubMed: Mc Taggart 2002
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
PubMed: Mc Taggart 2002
-
M
-
-
-
-
-
-
-
1
David Baux
+/+
_1_15_
c.-30_*3450{0}
r.0
p.0
-
Unknown
-
pathogenic
g.(?_85116185)_(85302566_?)del
g.(?_85861180)_(86047562_?)del
1-?_5442+?del
-
CHM_000099
hemizygous; total gene deletion
PubMed: Garcia-Hoyos 2008
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
PubMed: GarciajalopezHoyos 2008
-
M
-
Spain
-
-
-
-
-
1
David Baux
+/+
_1_15_
c.-30_*3450{0}
r.0
p.0
-
Maternal (inferred)
-
pathogenic
g.(?_85116185)_(85302566_?)del
g.(?_85861180)_(86047562_?)del
1-?_5442+?del
-
CHM_000099
hemizygous; total gene deletion
PubMed: Poloschek 2008
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
PubMed: Poloschek 2008
Syndromic choroideremia: associated with Martin-Probst deafness mental retardation syndrome.
M
-
-
-
-
-
-
-
1
David Baux
+/+
_1_15_
c.-30_*3450{0}
r.0
p.0
-
Maternal (inferred)
-
pathogenic
g.(?_85116185)_(85302566_?)del
g.(?_85861180)_(86047562_?)del
1-?_5442+?del
-
CHM_000099
hemizygous; total gene deletion
PubMed: Poloschek 2008
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
PubMed: Poloschek 2008
Syndromic choroideremia: associated with Martin-Probst deafness mental retardation syndrome.
M
-
-
-
-
-
-
-
1
David Baux
+/+
_1_15_
c.-30_*3450{0}
r.0
p.0
-
Maternal (inferred)
-
pathogenic
g.(?_85116185)_(85302566_?)del
g.(?_85861180)_(86047562_?)del
1-?_5442+?del
-
CHM_000099
hemizygous; total gene deletion
PubMed: Strunnikova 2009
-
-
Germline
-
-
-
-
-
DNA, RNA, protein
SEQ
-
-
CHM
-
PubMed: Strunnikova 2009
Proband
M
-
-
-
-
-
-
-
1
Anne-Françoise Roux
+/+
_1_15_
c.-30_*3450{0}
r.0
p.0
-
Maternal (confirmed)
-
pathogenic
g.(?_85116185)_(85302566_?)del
g.(?_85861180)_(86047562_?)del
1-?_5442+?del
-
CHM_000099
hemizygous; total gene deletion
PubMed: Esposito 2011
-
-
Germline
-
-
-
-
-
DNA, RNA, protein
PCR, PTT, RT-PCR, SEQ
-
-
CHM
-
PubMed: Esposito 2011
-
M
-
Italy
-
-
-
-
-
1
Anne-Françoise Roux
+/+
_1_15_
c.-30_*3450{0}
r.0
p.0
-
Maternal (confirmed)
-
pathogenic
g.(?_85116185)_(85302566_?)del
g.(?_85861180)_(86047562_?)del
1-?_5442+?del
-
CHM_000099
hemizygous; total gene deletion
PubMed: Esposito 2011
-
-
Germline
-
-
-
-
-
DNA, RNA, protein
PCR, PTT, RT-PCR, SEQ
-
-
CHM
-
PubMed: Esposito 2011
-
M
-
Italy
-
-
-
-
-
1
Anne-Françoise Roux
+/+
_1_15_
c.-30_*3450{0}
r.0
p.0
-
Maternal (inferred)
-
pathogenic
g.(?_85116185)_(85302566_?)del
g.(?_85861180)_(86047562_?)del
1-?_5442+?del
-
CHM_000099
hemizygous; total gene deletion from DXS110-pJ7.6A del.
PubMed: Cremers 1990
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
PubMed: Cremers 1990
-
M
-
Germany
-
-
-
-
-
1
David Baux
+/+
_1_15_
c.-30_*3450{0}
r.0
p.0
-
Maternal (inferred)
-
pathogenic
g.(?_85116185)_(85302566_?)del
g.(?_85861180)_(86047562_?)del
1-?_5442+?del
-
CHM_000099
hemizygous; total gene deletion from Ex1-DXS165 del
PubMed: Cremers 1990
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
PubMed: Cremers 1990
-
M
-
Germany
-
-
-
-
-
1
David Baux
+/+
_1_15_
c.-30_*3450{0}
r.0
p.0
-
Maternal (confirmed)
-
pathogenic
g.(?_85116185)_(85302566_?)del
g.(?_85861180)_(86047562_?)del
1-?_5442+?del
-
CHM_000099
hemizygous; total gene deletion
PubMed: Khateb 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG-S
-
-
CHM
-
PubMed: Khateb 2016
Proband
-
-
Israel
-
-
-
-
-
1
Anne-Françoise Roux
+/+
_1_15_
c.-30_*3450{0}
r.0
p.0
-
Unknown
-
pathogenic
g.(?_85116185)_(85302566_?)del
g.(?_85861180)_(86047562_?)del
1-?_5442+?del
-
CHM_000099
hemizygous; total gene deletion
PubMed: Aleman TS 2017
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
CHM
-
PubMed: Aleman TS 2017
-
-
-
-
-
-
-
-
-
1
David Baux
+/+
_1_15_
c.-30_*3450{0}
r.0
p.0
-
Unknown
-
pathogenic
g.(?_85116185)_(85302566_?)del
g.(?_85861180)_(86047562_?)del
1-?_5442+?del
-
CHM_000099
hemizygous; total gene deletion from DXS110 to DXS121.
PubMed: van Bokhoven 1994
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
PubMed: van Bokhoven 1994
-
M
-
Finland
-
-
-
-
-
1
David Baux
+/+
_1_15_
c.-30_*3450{0}
r.0
p.0
-
Maternal (inferred)
-
pathogenic
g.(?_85116185)_(85302566_?)del
g.(?_85861180)_(86047562_?)del
1-?_5442+?del
-
CHM_000099
hemizygous; total gene deletion from DXS110 to DXS233
PubMed: van Bokhoven 1994
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
PubMed: van Bokhoven 1994
-
M
-
-
-
-
-
-
-
1
David Baux
+/+
_1_15_
c.-30_*3450{0}
r.0
p.0
-
Unknown
-
pathogenic
g.(?_85116185)_(85302566_?)del
g.(?_85861180)_(86047562_?)del
1-?_5442+?del
-
CHM_000099
hemizygous; total gene deletion
PubMed: van Bokhoven 1994
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
PubMed: van Bokhoven 1994
-
M
-
-
-
-
-
-
-
1
David Baux
+/+
_1_15_
c.-30_*3450{0}
r.0
p.0
-
Unknown
-
pathogenic
g.(?_85116185)_(85302566_?)del
g.(?_85861180)_(86047562_?)del
1-?_5442+?del
-
CHM_000099
hemizygous; total gene deletion from DXS110-pJ15 del
PubMed: van Bokhoven 1994
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
PubMed: van Bokhoven 1994
-
M
-
Sweden
-
-
-
-
-
1
David Baux
+/+
_1_15_
c.-30_*3450{0}
r.0
p.0
-
Maternal (inferred)
-
pathogenic
g.(?_85116185)_(85302566_?)del
g.(?_85861180)_(86047562_?)del
1-?_5442+?del
-
CHM_000099
hemizygous; total gene deletion from DXS1002-pJ7.6A del
PubMed: Schwartz 1993
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
PubMed: Schwartz 1993
-
M
-
Denmark
-
-
-
-
-
1
David Baux
+/+
_1_15_
c.-30_*3450{0}
r.0
p.0
-
Unknown
-
pathogenic
g.(?_85116185)_(85302566_?)del
g.(?_85861180)_(86047562_?)del
1-?_5442+?del
-
CHM_000099
hemizygous; total gene deletion
PubMed: Ponjavic 1995
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
PubMed: Ponjavic 1995
-
M
-
Sweden
-
-
-
-
-
1
David Baux
+/+
_1_15_
c.-30_*3450{0}
r.0
p.0
-
Unknown
-
pathogenic
g.(?_85116185)_(85302566_?)del
g.(?_85861180)_(86047562_?)del
1-?_5442+?del
-
CHM_000099
hemizygous; total gene deletion from DXS95-DXS72 del. Markus Preising, Pooled Sample Homoallelity Testing (PSHT): Ein neues Verfahren zur Genlokalisation bei autosomal rezessiven und X-gekoppelten ErkrankungenrnThesis, Westf. Wilhelms-Universität, Münster, Schüling Verlag und Universitäts Dissertationen, WWU Münster, 1999 ISBN: 3-930962-89-6
Preising
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
Preising
Markus Preising, Pooled Sample Homoallelity Testing (PSHT): Ein neues Verfahren zur Genlokalisation bei autosomal rezessiven und X-gekoppelten ErkrankungenrnThesis, Westf. Wilhelms-Universität, Münster, Schüling Verlag und Universitäts Dissertationen, WWU Münster, 1999 ISBN: 3-930962-89-6
M
-
-
-
-
-
-
-
1
David Baux
+/+
_1_15_
c.-30_*3450{0}
r.0
p.0
-
Maternal (inferred)
-
pathogenic
g.(?_85116185)_(85302566_?)del
g.(?_85861180)_(86047562_?)del
1-?_5442+?del
-
CHM_000099
hemizygous; total gene deletion
Preising
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
Preising
Markus Preising, Pooled Sample Homoallelity Testing (PSHT): Ein neues Verfahren zur Genlokalisation bei autosomal rezessiven und X-gekoppelten ErkrankungenrnThesis, Westf. Wilhelms-Universität, Münster, Schüling Verlag und Universitäts Dissertationen, WWU Münster, 1999 ISBN: 3-930962-89-6
M
-
-
-
-
-
-
-
1
David Baux
+/.
1_15
c.-29-1_5412+1del
r.spl?
p.?
-
Maternal (inferred)
-
pathogenic
g.85116184_85302566del
-
c.-29-1_5412+1del
-
CHM_000587
-
PubMed: Mucciolo 2019
-
-
Germline
-
-
-
-
-
DNA
?
-
-
retinal disease
P5
PubMed: Mucciolo 2019
-
-
-
-
-
-
-
-
-
1
LOVD
+/.
1_15
c.-29-1_5412+1del
r.spl?
p.?
-
Maternal (inferred)
-
pathogenic
g.85116184_85302566del
-
c.-29-1_5412+1del
-
CHM_000587
-
PubMed: Mucciolo 2019
-
-
Germline
-
-
-
-
-
DNA
?
-
-
retinal disease
P6
PubMed: Mucciolo 2019
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.(?_-27)_(49+1_50-1)del
r.spl
p.(?)
-
Parent #1
-
likely pathogenic
g.?
g.?
CHM, variant 1 :Deletion exon 1
-
USP9X_000005
deletion boundaries not mentioned, solved, hemizygous
PubMed: Weisschuh 2020
-
-
Germline
yes
-
-
-
-
DNA
MLPA
blood
MLPA
retinal disease
152
PubMed: Weisschuh 2020
Filing key number: 64, choroideremia, no patient Ids, consecutive numbers given
F
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.(?_-27)_(49+1_50-1)del
r.spl
p.(?)
-
Parent #1
-
likely pathogenic
g.?
g.?
CHM, variant 1 :Deletion exon 1
-
USP9X_000005
deletion boundaries not mentioned, solved, hemizygous
PubMed: Weisschuh 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
Sanger sequencing
retinal disease
153
PubMed: Weisschuh 2020
Filing key number: 64, choroideremia, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.(?_-27)_(49+1_50-1)del
r.spl
p.(?)
-
Parent #1
-
likely pathogenic
g.?
g.?
CHM, variant 1 :Deletion exon 1
-
USP9X_000005
deletion boundaries not mentioned, solved, hemizygous
PubMed: Weisschuh 2020
-
-
Germline
yes
-
-
-
-
DNA
MLPA
blood
MLPA
retinal disease
154
PubMed: Weisschuh 2020
Filing key number: 64, choroideremia, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.(?_-1)_(49+1_50-1)del
r.0?
p.0?
-
Parent #1
-
likely pathogenic
g.(?_85302537)_(85282562_85302487)del
g.(?_86047533)_(86027558_86047483)del
g.85302437_85302586del
-
CHM_000585
-
PubMed: Ellingford 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
retinal disease
15015817
PubMed: Ellingford 2017
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_15_
c.(116+1_117-1)_*3450{0}
r.?
p.0
-
Parent #1
-
pathogenic (dominant)
g.(?_85116185)_(85236814_85282494)del
-
c.117-?_1962+? POF1Bdel max 0.9 Mb
-
CHM_000104
-
PubMed: Zeitz 2021
-
-
Germline
-
-
-
-
-
DNA
MLPA, SEQ
-
-
CHM
Fam6157PatCIC010639
Zeitz 2021, submitted
-
-
-
France
-
-
-
-
-
1
Christina Zeitz
+/.
14i_15_
c.(1770+1_1771-1)_*3450{0}
r.?
p.(Ala591_Glu653delins13)
-
Parent #1
-
pathogenic (dominant)
g.(?_85116185)_(85119827_85128056)del
-
c.1771-?_1962+?, max 0.06 Mb
-
CHM_000268
deletion most likely similar to (Sun 2016)
PubMed: Zeitz 2021
-
-
Germline
-
-
-
-
-
DNA
MLPA, SEQ
-
-
CHM
Fam4661PatCIC08304
Zeitz 2021, submitted
-
-
-
France
-
-
-
-
-
1
Christina Zeitz
+/.
14i_15_
c.(1770+1_1771-1)_*3450{0}
r.?
p.(Ala591_Glu653delins13)
-
Parent #1
-
pathogenic (dominant)
g.(?_85116185)_(85119827_85128056)del
-
c.1771-?_1962+?, max 0.06 Mb
-
CHM_000268
-
PubMed: Zeitz 2021
-
-
Germline
-
-
-
-
-
DNA
MLPA, SEQ
-
-
CHM
Fam6456PatCIC11197
Zeitz 2021, submitted
-
-
-
France
-
-
-
-
-
1
Christina Zeitz
+/.
6i_15_
c.(819+1_820-1)_*3450{0}
r.?
p.(Val274_Glu653delins13)
-
Parent #1
-
pathogenic (dominant)
g.(?_85116185)_(85212981_85213865)del
-
c.820- ?_1962+?, max 0.3 Mb
-
CHM_000514
-
PubMed: Zeitz 2021
-
-
Germline
-
-
-
-
-
DNA
MLPA, SEQ
-
-
CHM
Fam4768PatCIC08451
Zeitz 2021, submitted
-
-
-
France
-
-
-
-
-
1
Christina Zeitz
+/.
_1_15_
c.-30_*3450{0}
r.0
p.0
-
Parent #1
-
pathogenic (dominant)
g.(?_85116185)_(85302566_?)del
g.(?_85861180)_(86047562_?)del
max 4.1Mb deletion CHM, DACH2, KLHL4, and CPXCR1del
-
CHM_000099
-
PubMed: Zeitz 2021
-
-
Germline
-
-
-
-
-
DNA
MLPA, SEQ
-
-
CHM
Fam4474PatCIC08017
Zeitz 2021, submitted
-
-
-
France
-
-
-
-
-
1
Christina Zeitz
+/.
_1_15_
c.-30_*3450{0}
r.0
p.0
-
Parent #1
-
pathogenic (dominant)
g.(?_85116185)_(85302566_?)del
g.(?_85861180)_(86047562_?)del
max 3.3Mb deletion CHM, DACH2 and KLHL4
-
CHM_000099
-
PubMed: Zeitz 2021
-
-
Germline
-
-
-
-
-
DNA
MLPA, SEQ
-
-
CHM
Fam214PatCIC00313
Zeitz 2021, submitted
-
-
-
France
-
-
-
-
-
1
Christina Zeitz
+?/.
_1_8i
c.-30_1166+8052{0}
r.0?
p.0?
-
Unknown
-
likely pathogenic
g.85203106_85546828del
-
del ex1-8, chrX:85203106-85546828del
-
CHM_000538
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
936
PubMed: Stone 2017
family, 2 affected
M
-
(United States)
-
-
-
-
-
2
LOVD
+/.
1
c.-30_49+187{0}
r.0?
p.0?
-
Maternal (inferred)
ACMG
pathogenic
g.85302304_85304319del
g.86047300_86049315del
c.-1780_49+187del
-
CHM_000550
ACMG PVS1, PS4_Supporting (based on a similar whole exon 1 deletion [PMID:19597113]), PM2_Supporting, PP1 (based on a similar whole exon 1 deletion [PMID:19597113])
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
Peripheral blood
-
retinal disease
IM20-0021
-
-
M
-
Spain
White
>14y
-
-
-
1
Juan Cadiñanos
+?/.
5
c.0
r.0
p.0
-
Maternal (inferred)
-
likely pathogenic
g.0
-
REP1 deletion
-
CHM_000633
-
PubMed: Dubis 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
8
PubMed: Dubis 2021
-
M
-
-
Caucasian
-
-
-
-
1
LOVD
+?/.
5
c.0
r.0
p.0
-
Maternal (inferred)
-
likely pathogenic
g.0
-
REP1 deletion
-
CHM_000633
-
PubMed: Dubis 2021
-
-
Germline
-
-
-
-
-
DNA
Western
blood
-
retinal disease
13
PubMed: Dubis 2021
-
M
-
-
South Asian
-
-
-
-
1
LOVD
+?/.
5
c.0
r.0
p.0
-
Maternal (inferred)
-
likely pathogenic
g.0
-
REP1 deletion
-
CHM_000633
-
PubMed: Dubis 2021
-
-
Germline
-
-
-
-
-
DNA
Western
blood
-
retinal disease
40
PubMed: Dubis 2021
-
M
-
-
Caucasian
-
-
-
-
1
LOVD
+?/.
5
c.0
r.0
p.0
-
Maternal (inferred)
-
likely pathogenic
g.0
-
REP1 deletion
-
CHM_000633
-
PubMed: Dubis 2021
-
-
Germline
-
-
-
-
-
DNA
Western
blood
-
retinal disease
41
PubMed: Dubis 2021
-
M
-
-
Caucasian
-
-
-
-
1
LOVD
+?/.
5
c.0
r.0
p.0
-
Maternal (inferred)
-
likely pathogenic
g.0
-
REP1 deletion
-
CHM_000633
-
PubMed: Dubis 2021
-
-
Germline
-
-
-
-
-
DNA
Western
blood
-
retinal disease
42
PubMed: Dubis 2021
-
M
-
-
Caucasian
-
-
-
-
1
LOVD
+/.
-
c.?
r.0
p.0
-
Unknown
ACMG
pathogenic
g.?
-
Whole gene deletion
-
USP9X_000005
-
PubMed: Sharon 2019
-
-
Germline
-
2/2420 IRD families
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Sharon 2019
2 IRD families
-
-
Israel
-
-
-
-
-
2
Global Variome, with Curator vacancy
+/.
-
c.?
r.?
p.(Ala48_Glu113del)
-
Unknown
ACMG
pathogenic
g.?
-
NM_000390.4:c.143_340del (Ala48_Glu113del)
-
USP9X_000005
-
PubMed: Sharon 2019
-
-
Germline
-
1/2420 IRD families
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Sharon 2019
1 IRD family
-
-
Israel
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/.
-
c.?
r.?
p.(Asp244Ilefs*2)
-
Unknown
ACMG
pathogenic
g.?
-
NM_000390.4:c.729_966del (Asp244Ilefs*2)
-
USP9X_000005
-
PubMed: Sharon 2019
-
-
Germline
-
1/2420 IRD families
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Sharon 2019
1 IRD family
-
-
Israel
-
-
-
-
-
1
Global Variome, with Curator vacancy
+?/.
-
c.?
r.0?
p.0?
-
Unknown
-
likely pathogenic
g.?
-
del ex1-2
-
USP9X_000005
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
935
PubMed: Stone 2017
1 affected
M
-
(United States)
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.0?
p.0?
-
Unknown
-
likely pathogenic
g.?
-
del entire gene
-
USP9X_000005
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
937
PubMed: Stone 2017
1 affected
M
-
(United States)
-
-
-
-
-
1
LOVD
+/.
7
c.?
r.(?)
p.?
-
Both (homozygous)
-
pathogenic
g.85212937dupT
-
c.863dupA
-
USP9X_000005
-
PubMed: Corton-2013
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
blood
WES
retinal disease
P-07-0360
PubMed: Cortonjalopez2013
-
-
no
-
Spanish
-
-
-
-
1
LOVD
+?/.
-
c.?
r.0?
p.0?
-
Parent #1
-
likely pathogenic
g.?
g.?
CHM, variant 1 :Deletion entire gene
-
USP9X_000005
deletion boundaries not mentioned, solved, hemizygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
Sanger sequencing
retinal disease
254
PubMed: Weisschuh 2020
Filing key number: 86, choroideremia, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.0?
p.0?
-
Parent #1
-
likely pathogenic
g.?
g.?
CHM, variant 1 :Deletion entire gene
-
USP9X_000005
deletion boundaries not mentioned, solved, hemizygous
PubMed: Weisschuh 2020
-
-
Germline
yes
-
-
-
-
DNA
MLPA
blood
MLPA
retinal disease
261
PubMed: Weisschuh 2020
Filing key number: 88, choroideremia, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.0?
p.0?
-
Parent #1
-
likely pathogenic
g.?
g.?
CHM, variant 1 :Deletion entire gene
-
USP9X_000005
deletion boundaries not mentioned, solved, hemizygous
PubMed: Weisschuh 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
Sanger sequencing
retinal disease
262
PubMed: Weisschuh 2020
Filing key number: 88, choroideremia, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.0?
p.0?
-
Parent #1
-
likely pathogenic
g.?
g.?
CHM, variant 1 :Deletion entire gene
-
USP9X_000005
deletion boundaries not mentioned, solved, hemizygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
MLPA
blood
MLPA
retinal disease
285
PubMed: Weisschuh 2020
Filing key number: 94, choroideremia, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.0?
p.0?
-
Parent #1
-
likely pathogenic
g.?
g.?
CHM, variant 1 :Deletion entire gene
-
USP9X_000005
deletion boundaries not mentioned, solved, hemizygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
Sanger sequencing
retinal disease
286
PubMed: Weisschuh 2020
Filing key number: 94, choroideremia, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.0?
p.0?
-
Parent #1
-
likely pathogenic
g.?
g.?
CHM, variant 1 :Deletion entire gene
-
USP9X_000005
deletion boundaries not mentioned, solved, hemizygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
Sanger sequencing
retinal disease
326
PubMed: Weisschuh 2020
Filing key number: 106, choroideremia, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
1
LOVD
?/.
-
c.?
r.?
p.?
-
Maternal (inferred)
-
NA
g.?
-
Deletionof5.0Mb
-
USP9X_000005
-
PubMed: Hayashi 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
blood
WES
retinal disease
F15-JU1835
PubMed: Hayashi 2020
-
M
-
Japan
Japanese
-
-
-
-
1
LOVD
+/.
-
c.?
r.?
p.?
-
Maternal (inferred)
-
pathogenic
g.?
-
Ser233Ter
-
USP9X_000005
-
PubMed: Vitale 2020
-
-
Unknown
?
-
-
-
-
DNA
arrayCGH, SEQ
-
-
retinal disease
-
PubMed: Vitale 2020
-
M
?
United States
-
-
-
-
-
1
LOVD
+?/.
10
c.?
r.(?)
p.?
-
Maternal (inferred)
-
likely pathogenic
g.?
-
c.1245_1246delins14
-
USP9X_000005
Only the insertion of a sequence or a range is implemented.
PubMed: Dubis 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
9
PubMed: Dubis 2021
novel
M
-
-
Caucasian
-
-
-
-
1
LOVD
+?/.
7i
c.?
r.(?)
p.?
-
Maternal (inferred)
-
likely pathogenic
g.85211384_85211385delinsCT
-
c.941-2GT>AG
-
USP9X_000005
-
PubMed: Dubis 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
73
PubMed: Dubis 2021
novel
M
-
-
Caucasian
-
-
-
-
1
LOVD
+?/.
-
c.?
r.?
p.?
-
Unknown
ACMG
likely pathogenic (dominant)
g.84785132_86225549del
-
-
-
USP9X_000005
ACMG PM2, PVS1
PubMed: Weisschuh 2024
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
CHM-122
PubMed: Weisschuh 2024
patient, no family history
M
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.?
r.?
p.?
-
Parent #1
ACMG
likely pathogenic (dominant)
g.84646897_85634486del
-
-
-
USP9X_000005
ACMG PM2, PVS1
PubMed: Weisschuh 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
CHM-123
PubMed: Weisschuh 2024
family, 2 affected
M
-
Germany
-
-
-
-
-
2
Johan den Dunnen
+/.
_1_2i
c.-30_(189+1_190-1){0}
r.?
p.?
-
Unknown
ACMG
pathogenic
g.(85233896_85236740)_(85302566_?)del
-
c.1_188del
-
USP9X_000005
-
PubMed: Sharon 2019
-
-
Germline
-
1/2420 IRD families
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Sharon 2019
1 IRD family
-
-
Israel
-
-
-
-
-
1
Global Variome, with Curator vacancy
?/.
-
c.2T>A
r.(?)
p.(Met1?)
-
Unknown
ACMG
VUS
g.85302535A>T
g.86047531A>T
CHM c.2T>A, p.(Met1?)
-
CHM_000584
hemizygous
PubMed: Kim 2021
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
193-261
PubMed: Kim 2021
-
?
-
Korea, South (Republic)
-
-
-
-
-
1
LOVD
+?/+
1
c.3G>A
r.3g>a
p.0?
-
Maternal (inferred)
ACMG
likely pathogenic
g.85302534C>T
g.86047530C>T
33G>A
-
CHM_000128
hemizygous
PubMed: Strunnikova 2009
-
-
Germline
-
-
-BccI;-EciI;
-
-
DNA, RNA, protein
SEQ
-
-
CHM
-
PubMed: Strunnikova 2009
Proband
M
-
-
-
-
-
-
-
1
Anne-Françoise Roux
+/.
1
c.3G>A
r.(?)
p.0?
-
Maternal (inferred)
-
pathogenic
g.85302534C>T
g.86047530C>T
Met1?
-
CHM_000128
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
-
eyeGENE Participant
M
-
United States
-
-
-
-
-
1
Kerry Goetz
+?/.
-
c.3G>A
r.(?)
p.(Met1?)
-
Unknown
ACMG
likely pathogenic
g.85302534C>T
g.86047530C>T
CHM c.3G>A, p.(Met1?)
-
CHM_000128
-
PubMed: Jespersgaar 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
125 genes associated with inherited retinal disorders, see paper supplemental data
retinal disease
80
PubMed: Jespersgaar 2019
-
?
-
Denmark
-
-
-
-
-
1
LOVD
-?/.
1
c.8A>G
r.(?)
p.(Asp3Gly)
-
Unknown
-
likely benign
g.85302529T>C
g.86047525T>C
CHM(NM_000390.2):c.8A>G (p.D3G)
-
CHM_000427
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
1
c.16_17dup
r.16_17dup
p.(Ser7Leufs*6)
-
Maternal (inferred)
-
pathogenic
g.85302521_85302522dup
g.86047517_86047518dup
46_47dupCC
-
CHM_000307
hemizygous
PubMed: Dysli C 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
PubMed: Dysli C 2016
-
-
-
-
-
-
-
-
-
1
David Baux
+/+
1
c.17del
r.(?)
p.(Pro6Leufs*6)
-
Maternal (inferred)
-
pathogenic
g.85302522del
g.86047518del
47delC
-
CHM_000005
hemizygous; REP-1 not detected
PubMed: Mc Taggart 2002
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
PubMed: Mc Taggart 2002
-
M
-
-
-
-
-
-
-
1
David Baux
+/+
1
c.20C>A
r.20c>a
p.(Ser7*)
-
Maternal (inferred)
-
pathogenic
g.85302517G>T
g.86047513G>T
50C>A
-
CHM_000310
hemizygous
PubMed: Ramsden SC 2013
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CHM
-
PubMed: Ramsden SC 2013
-
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
David Baux
+?/.
1
c.22delG
r.(?)
p.(Glu8Serfs*4)
-
Unknown
-
likely pathogenic
g.85302515delC
-
c.22delG
-
CHM_000632
-
PubMed: Dan 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
-
PubMed: Dan 2020
mother of III:2
F
?
China
-
-
-
-
-
1
LOVD
+?/.
1
c.22delG
r.(?)
p.(Glu8Serfs*4)
-
Maternal (confirmed)
-
likely pathogenic
g.85302515delC
-
c.22delG
-
CHM_000632
-
PubMed: Dan 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
-
PubMed: Dan 2020
uncle of III:2
M
?
China
-
-
-
-
-
1
LOVD
+?/.
1
c.22delG
r.(?)
p.(Glu8Serfs*4)
-
Maternal (confirmed)
-
likely pathogenic
g.85302515delC
-
c.22delG
-
CHM_000632
-
PubMed: Dan 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
-
PubMed: Dan 2020
uncle of III:2
M
?
China
-
-
-
-
-
1
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