Global Variome shared LOVD
C2orf71 (chromosome 2 open reading frame 71)
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Full data view for gene C2orf71
NOTE: gene symbol was recently changed from C2orf71 to PCARE
. This database is one of the
"Eye disease"
gene variant databases.
The variants shown are described using the NM_001029883.2 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
conflicting
association
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arrayMET = array for methylation analysis
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = single molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
How to query this table
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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475 entries on 5 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.-32784054_*1687327dup
r.0?
p.0?
Unknown
-
VUS
g.27600408_62081181dup
-
chr2:27600408–62081181
-
FSHR_000025
-
PubMed: Ellingsford 2018
-
-
Germline
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.?
r.?
p.?
Both (homozygous)
-
pathogenic
g.?
-
I210F
-
SNRNP200_000007
-
PubMed: Sanchez-Alcudia 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
RP-0622PatII1
PubMed: Sanchez-Alcudia 2014
3-generation family, affect aunt/nephew
M
-
Spain
-
-
-
-
-
2
LOVD
+?/.
-
c.?
r.(?)
p.?
Unknown
-
likely pathogenic
g.?
-
p.C2orf71-571_P576del
-
SNRNP200_000007
Mother healthy heterozygous carrier
PubMed: Schorderet-2013
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG, SEQp
blood
targeted exon capture/IROme assay
retinal disease
-
PubMed: Schorderet-2013
-
-
-
Switzerland
Swiss, Algerian or Tunisian
-
-
-
-
1
LOVD
-?/.
-
c.?
r.(?)
p.(Asn12Thrfs*11)
Unknown
-
likely benign
g.?
-
p.Arg346fs
-
SNRNP200_000007
-
PubMed: Bhatia 2019
-
-
Germline
no
-
-
-
-
DNA
SEQ-NG, SEQ
blood
-
retinal disease
IV:1
PubMed: Bhatia 2019
-
F
yes
-
India
-
-
-
-
1
LOVD
-?/.
2
c.?
r.(?)
p.?
Unknown
-
likely benign
g.29282400_29282401insGCT
-
c.C9201_G9202insAGC
-
SNRNP200_000007
Position is outside of the sequence range
PubMed: Borràs 2013
-
-
Germline
no
n/a
-
-
-
DNA
SEQ-NG, SEQ
blood
-
retinal disease
RP-95
PubMed: Borràs 2013
-
-
-
Spain
Spanish
-
-
-
-
1
LOVD
-?/.
2
c.?
r.(?)
p.?
Unknown
-
likely benign
g.29282400_29282401insGCT
-
c.C9201_G9202insAGC
-
SNRNP200_000007
Position is outside of the sequence range
PubMed: Borràs 2013
-
-
Germline
no
n/a
-
-
-
DNA
SEQ-NG, SEQ
blood
-
retinal disease
RP-83
PubMed: Borràs 2013
-
-
-
Spain
Spanish
-
-
-
-
1
LOVD
?/.
-
c.{2}
r.?
p.?
Unknown
-
VUS
g.(?_27600408)_(62081181_?)dup
-
27600408–62081181dup
-
FAM161A_000000
-
PubMed: Ellingsford 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
CNV gene panel next-generation sequencing
retinal disease
13009597
PubMed: Ellingsford 2018
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
LOVD
?/.
1
c.8G>A
r.(?)
p.(Cys3Tyr)
Both (homozygous)
-
VUS
g.29297120C>T
-
c.8G>A
-
C2orf71_000190
-
PubMed: Colombo-2020
-
rs1420546201
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Colombo-2020
-
M
no
-
-
-
-
-
-
1
LOVD
?/.
1
c.8G>A
r.(?)
p.(Cys3Tyr)
Both (homozygous)
-
VUS
g.29297120C>T
-
c.8G>A
-
C2orf71_000190
-
PubMed: Panneman 2023
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
RP-LCA smMIPs sequencing
RP
-
PubMed: Panneman 2023
-
M
-
-
-
-
-
-
-
1
Daan Panneman
-?/.
-
c.37A>T
r.(?)
p.(Ser13Cys)
Unknown
-
likely benign
g.29297091T>A
g.29074225T>A
C2orf71(NM_001029883.2):c.37A>T (p.(Ser13Cys))
-
C2orf71_000122
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
1
c.37A>T
r.(?)
p.(Ser13Cys)
Unknown
-
benign
g.29297091T>A
-
c.37A>T
-
C2orf71_000122
-
PubMed: Audo 2011
-
rs10084168
Unknown
-
15 /418 patient chromosomes
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.60G>A
r.(?)
p.(Gln20=)
Unknown
-
benign
g.29297068C>T
g.29074202C>T
-
-
C2orf71_000059
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
1
c.60G>A
r.(=)
p.(=)
Unknown
-
benign
g.29297068C>T
-
c.60G>A
-
C2orf71_000059
-
PubMed: Audo 2011
-
rs35929540
Unknown
-
120/418 patient chromosomes
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.85C>T
r.(?)
p.(Arg29Trp)
Unknown
-
pathogenic
g.29297043G>A
g.29074177G>A
-
-
C2orf71_000095
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
rs201706430
Germline
-
3/1204 cases with retinitis pigmentosa
-
-
-
DNA
SEQ-NG
-
-
retinal disease
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
3
Yoshito Koyanagi
+?/.
-
c.85C>T
r.(?)
p.(Arg29Trp)
Unknown
-
likely pathogenic (recessive)
g.29297043G>A
g.29074177G>A
-
-
C2orf71_000095
-
PubMed: Xu 2014
-
rs201706430
Germline
-
1/314 case chromosomes
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
RP276
PubMed: Xu 2014
-
-
-
China
-
-
-
-
-
1
LOVD
?/.
1
c.85C>T
r.(?)
p.(Arg29Trp)
Unknown
-
VUS
g.29297043G>A
g.29074177G>A
C85T
-
C2orf71_000095
-
PubMed: Katagiri 2014
-
rs201706430
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
RP#011
PubMed: Katagiri 2014
family
-
-
Japan
-
-
-
-
-
1
LOVD
+?/.
1
c.85C>T
r.(?)
p.(Arg29Trp)
Unknown
-
likely pathogenic
g.29297043G>A
g.29074177G>A
C85T
-
C2orf71_000095
-
PubMed: Katagiri 2014
-
rs201706430
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
RP#030
PubMed: Katagiri 2014
family
-
-
Japan
-
-
-
-
-
1
LOVD
?/.
1
c.85C>T
r.(?)
p.(Arg29Trp)
Unknown
ACMG
VUS
g.29297043G>A
g.29074177G>A
c.85C>T
-
C2orf71_000095
single heterozygous variant in a recessive gene, probably not causative in the patient
PubMed: Hosono 2018
-
rs201706430
Germline
no
-
-
-
-
DNA
SEQ, SEQ-NG
blood
Targeted next-generation sequencing
LCA6
EYE149
PubMed: Hosono 2018
, Torii 2023, submitted
proband, family EYE149
M
no
Japan
Japanese
-
-
-
-
1
Kaoruko Torii
?/.
-
c.100G>A
r.(?)
p.(Gly34Ser)
Unknown
-
VUS
g.29297028C>T
g.29074162C>T
-
-
C2orf71_000094
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
-
Germline
-
1/1204 cases with retinitis pigmentosa
-
-
-
DNA
SEQ-NG
-
-
retinal disease
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
1
Yoshito Koyanagi
-/.
-
c.102C>T
r.(?)
p.(Gly34=)
Unknown
-
benign
g.29297026G>A
g.29074160G>A
PCARE(NM_001029883.3):c.102C>T (p.G34=)
-
C2orf71_000121
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.103G>A
r.(?)
p.(Gly35Arg)
Unknown
-
VUS
g.29297025C>T
-
PCARE(NM_001029883.2):c.103G>A (p.G35R)
-
C2orf71_000195
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.184C>G
r.(?)
p.(Pro62Ala)
Unknown
-
VUS
g.29296944G>C
g.29074078G>C
-
-
C2orf71_000169
-
PubMed: Wang 2014
-
rs76346220
Germline
-
-
-
-
-
DNA
SEQ-NG
-
66-gene panel
retinal disease
59
PubMed: Wang 2014
-
M
-
United States
-
-
-
-
-
1
LOVD
-?/.
-
c.220C>G
r.(?)
p.(Leu74Val)
Unknown
-
likely benign
g.29296908G>C
g.29074042G>C
C2orf71(NM_001029883.2):c.220C>G (p.(Leu74Val))
-
C2orf71_000120
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.239A>G
r.(?)
p.(Asp80Gly)
Unknown
-
VUS
g.29296889T>C
g.29074023T>C
-
-
C2orf71_000163
-
PubMed: Xu 2014
-
-
Germline
-
1/314 case chromosomes
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
RP305
PubMed: Xu 2014
patient
M
-
China
-
-
-
-
-
1
LOVD
-/.
-
c.258G>A
r.(?)
p.(Arg86=)
Unknown
-
benign
g.29296870C>T
g.29074004C>T
-
-
C2orf71_000058
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
1
c.258G>A
r.(=)
p.(=)
Unknown
-
benign
g.29296870C>T
-
c.258G>A
-
C2orf71_000058
-
PubMed: Audo 2011
-
rs62132765
Unknown
-
120/418 patient chromosomes
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.358G>C
r.(?)
p.(Gly120Arg)
Unknown
-
VUS
g.29296770C>G
g.29073904C>G
-
-
C2orf71_000093
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
rs140625913
Germline
-
9/1204 cases with retinitis pigmentosa
-
-
-
DNA
SEQ-NG
-
-
retinal disease
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
9
Yoshito Koyanagi
?/.
-
c.358G>C
r.(?)
p.(Gly120Arg)
Both (homozygous)
-
VUS
g.29296770C>G
g.29073904C>G
-
-
C2orf71_000093
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
rs140625913
Germline
-
1/1204 cases with retinitis pigmentosa
-
-
-
DNA
SEQ-NG
-
-
retinal disease
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
1
Yoshito Koyanagi
-/.
1
c.366T>C
r.(=)
p.(=)
Unknown
-
benign
g.29296762A>G
-
c.366C>T
-
C2orf71_000213
-
PubMed: Audo 2011
-
rs17007546
Unknown
-
1/418 patient chromosomes
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.396T>C
r.(?)
p.(Asp132=)
Unknown
-
likely benign
g.29296732A>G
g.29073866A>G
C2orf71(NM_001029883.2):c.396T>C (p.D132=)
-
C2orf71_000119
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
1
c.402_405del
r.(?)
p.(Ser134Argfs*47)
Parent #2
-
likely pathogenic (recessive)
g.29296723_29296726del
-
c.402_405del
-
C2orf71_000212
-
PubMed: Gerth Kahlert 2017
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG, SEQ
-
-
retinal disease
Fam6- 8
PubMed: Gerth Kahlert 2017
-
M
-
-
Caucasian
-
-
-
-
1
LOVD
?/.
-
c.403G>A
r.(?)
p.(Glu135Lys)
Unknown
-
VUS
g.29296725C>T
g.29073859C>T
PCARE(NM_001029883.2):c.403G>A (p.E135K), PCARE(NM_001029883.3):c.403G>A (p.E135K)
-
C2orf71_000127
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.403G>A
r.(?)
p.(Glu135Lys)
Unknown
-
VUS
g.29296725C>T
-
PCARE(NM_001029883.2):c.403G>A (p.E135K), PCARE(NM_001029883.3):c.403G>A (p.E135K)
-
C2orf71_000127
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.403G>T
r.(?)
p.(Glu135*)
Both (homozygous)
-
pathogenic (recessive)
g.29296725C>A
g.29073859C>A
-
-
C2orf71_000139
-
PubMed: Bocquet 2013
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
RP1013
PubMed: Bocquet 2013
2-generation family, 1 affected
F
yes
France
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.403G>T
r.(?)
p.(Glu135*)
Both (homozygous)
-
pathogenic
g.29296725C>A
-
c.403G>T
-
C2orf71_000139
-
PubMed: Bocquet-2013
-
-
Germline
-
-
-
-
-
DNA
PCR
blood
-
retinal disease
-
PubMed: Bocquet-2013
-
-
yes
France
-
-
-
-
-
1
LOVD
+/.
-
c.407A>G
r.(?)
p.(Glu136Gly)
Unknown
-
pathogenic
g.29296721T>C
g.29073855T>C
-
-
C2orf71_000092
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
rs761117759
Germline
-
3/1204 cases with retinitis pigmentosa
-
-
-
DNA
SEQ-NG
-
-
retinal disease
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
3
Yoshito Koyanagi
+?/.
-
c.407A>G
r.(?)
p.(Glu136Gly)
Unknown
-
likely pathogenic (recessive)
g.29296721T>C
g.29073855T>C
-
-
C2orf71_000092
-
PubMed: Xu 2014
-
-
Germline
-
2/314 case chromosomes
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
RP109
PubMed: Xu 2014
-
-
-
China
-
-
-
-
-
1
LOVD
?/.
-
c.407A>G
r.(?)
p.(Glu136Gly)
Unknown
-
VUS
g.29296721T>C
g.29073855T>C
-
-
C2orf71_000092
-
PubMed: Xu 2014
-
-
Germline
-
2/314 case chromosomes
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
RP377
PubMed: Xu 2014
patient
M
-
China
-
-
-
-
-
1
LOVD
+?/.
1
c.418del
r.(?)
p.(Gln140LysfsTer42)
Parent #1
ACMG
likely pathogenic
g.29296712del
g.29073846del
-
-
C2orf71_000232
-
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
smMIP-based 105 iMD/AMD genes
macular dystrophy
080620
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
F
-
-
-
-
-
-
-
1
Rebekkah Hitti-Malin
?/.
-
c.428C>T
r.(?)
p.(Ser143Phe)
Unknown
-
VUS
g.29296700G>A
g.29073834G>A
C2orf71(NM_001029883.2):c.428C>T (p.S143F)
-
C2orf71_000118
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.462A>G
r.(?)
p.(Ser154=)
Unknown
-
likely benign
g.29296666T>C
g.29073800T>C
C2orf71(NM_001029883.2):c.462A>G (p.S154=)
-
C2orf71_000047
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.478_479insA
r.(?)
p.(Cys160*)
Both (homozygous)
-
pathogenic
g.29296648insA
-
-
-
C2orf71_000061
Variant Error [ESYNTAX]: This genomic variant has an error (insertion length must be 1). Please fix this entry and then remove this message.
Sharon, submitted
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LCA
-
Sharon, submitted
-
M
yes
Israel
Arab Christian
-
-
-
-
1
Dror Sharon
+/.
-
c.478_479insA
r.(?)
p.(Cys160*)
Unknown
ACMG
pathogenic
g.29296649_29296650insT
-
-
-
C2orf71_000061
-
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.478_479insA
r.(?)
p.(Cys160*)
Parent #1
-
likely pathogenic
g.29296649_29296650insT
g.29073783_29073784insT
PCARE, variant 1: c.478_479insA/p.C160* , variant 2: c.478_479insA/p.C160*
-
C2orf71_000061
solved, homozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
RET7 targeted sequencing panel - see paper
retinal disease
1071
PubMed: Weisschuh 2020
Filing key number: 686, cone-rod dystrophy, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
1
LOVD
+/.
1
c.478_479insA
r.(?)
p.(Cys160*)
Both (homozygous)
-
pathogenic (recessive)
g.29296649_29296650insT
-
c.478_479insA
-
C2orf71_000061
-
PubMed: Gerth Kahlert 2017
-
-
Unknown
yes
-
-
-
-
DNA
SEQ-NG, SEQ
-
-
retinal disease
Fam11- 13
PubMed: Gerth Kahlert 2017
-
F
yes
-
N/A
-
-
-
-
1
LOVD
?/.
-
c.500C>T
r.(?)
p.(Ala167Val)
Unknown
-
VUS
g.29296628G>A
g.29073762G>A
C2orf71(NM_001029883.2):c.500C>T (p.A167V)
-
C2orf71_000046
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.530C>T
r.(?)
p.(Pro177Leu)
Parent #1
-
VUS
g.29296598G>A
g.29073732G>A
-
-
C2orf71_000130
1 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs190791051
Germline
-
1/2795 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
1
Mohammed Faruq
?/.
-
c.530C>T
r.(?)
p.(Pro177Leu)
Unknown
-
VUS
g.29296598G>A
-
PCARE(NM_001029883.2):c.530C>T (p.P177L), PCARE(NM_001029883.3):c.530C>T (p.(Pro177Leu))
-
C2orf71_000130
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.530C>T
r.(?)
p.(Pro177Leu)
Unknown
-
VUS
g.29296598G>A
-
PCARE(NM_001029883.2):c.530C>T (p.P177L), PCARE(NM_001029883.3):c.530C>T (p.(Pro177Leu))
-
C2orf71_000130
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.531G>A
r.(?)
p.(Pro177=)
Unknown
-
likely benign
g.29296597C>T
g.29073731C>T
PCARE(NM_001029883.2):c.531G>A (p.P177=)
-
C2orf71_000126
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.537T>C
r.(?)
p.(Pro179=)
Unknown
-
likely benign
g.29296591A>G
-
PCARE(NM_001029883.2):c.537T>C (p.P179=)
-
C2orf71_000136
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.556C>T
r.(?)
p.(Gln186*)
Paternal (inferred)
-
pathogenic
g.29296572G>A
g.29073706G>A
-
-
C2orf71_000004
homozygosity mapping; not in 286 control chromosomes
PubMed: Collin 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
-
-
M
yes
Israel
Arab, muslim
-
-
-
-
1
Johan den Dunnen
+/.
1
c.556C>T
r.(?)
p.(Gln186*)
Maternal (confirmed)
-
pathogenic
g.29296572G>A
g.29073706G>A
-
-
C2orf71_000004
homozygosity mapping; not in 286 control chromosomes
PubMed: Collin 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
-
-
M
yes
Israel
Arab, muslim
-
-
-
-
1
Johan den Dunnen
+/.
1
c.556C>T
r.(?)
p.(Gln186*)
Paternal (inferred)
-
pathogenic
g.29296572G>A
g.29073706G>A
-
-
C2orf71_000004
homozygosity mapping; not in 286 control chromosomes
PubMed: Collin 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
-
-
M
yes
Israel
Arab, muslim
-
-
-
-
1
Johan den Dunnen
+/.
1
c.556C>T
r.(?)
p.(Gln186*)
Maternal (confirmed)
-
pathogenic
g.29296572G>A
g.29073706G>A
-
-
C2orf71_000004
homozygosity mapping; not in 286 control chromosomes
PubMed: Collin 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
-
-
M
yes
Israel
Arab, muslim
-
-
-
-
1
Johan den Dunnen
+/.
1
c.556C>T
r.(?)
p.(Gln186*)
Paternal (inferred)
-
pathogenic
g.29296572G>A
g.29073706G>A
-
-
C2orf71_000004
homozygosity mapping; not in 286 control chromosomes
PubMed: Collin 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
-
-
M
yes
Israel
Arab, muslim
-
-
-
-
1
Johan den Dunnen
+/.
1
c.556C>T
r.(?)
p.(Gln186*)
Maternal (confirmed)
-
pathogenic
g.29296572G>A
g.29073706G>A
-
-
C2orf71_000004
homozygosity mapping; not in 286 control chromosomes
PubMed: Collin 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
-
-
M
yes
Israel
Arab, muslim
-
-
-
-
1
Johan den Dunnen
+/.
1
c.556C>T
r.(?)
p.(Gln186*)
Paternal (confirmed)
-
pathogenic
g.29296572G>A
g.29073706G>A
-
-
C2orf71_000004
homozygosity mapping; not in 286 control chromosomes
PubMed: Collin 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
-
-
F
yes
Israel
Arab, muslim
-
-
-
-
1
Johan den Dunnen
+/.
1
c.556C>T
r.(?)
p.(Gln186*)
Maternal (confirmed)
-
pathogenic
g.29296572G>A
g.29073706G>A
-
-
C2orf71_000004
homozygosity mapping; not in 286 control chromosomes
PubMed: Collin 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
-
-
F
yes
Israel
Arab, muslim
-
-
-
-
1
Johan den Dunnen
+/.
1
c.556C>T
r.(?)
p.(Gln186*)
Parent #1
-
pathogenic
g.29296572G>A
g.29073706G>A
-
-
C2orf71_000004
homozygosity mapping; not in 286 control chromosomes
PubMed: Collin 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
5 unaffected heterozygous carriers
?
yes
Israel
Arab, muslim
-
-
-
-
5
Johan den Dunnen
+/.
-
c.556C>T
r.(?)
p.(Gln186*)
Unknown
ACMG
pathogenic
g.29296572G>A
-
-
-
C2orf71_000004
-
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
+/.
1
c.601A>T
r.(?)
p.(Ile201Phe)
Paternal (confirmed)
-
pathogenic
g.29296527T>A
g.29073661T>A
-
-
C2orf71_000007
not in 384 control chromosomes
PubMed: Nishimura 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
-
4-generation family, 1 affected
-
yes
Spain
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.601A>T
r.(?)
p.(Ile201Phe)
Maternal (confirmed)
-
pathogenic
g.29296527T>A
g.29073661T>A
-
-
C2orf71_000007
not in 384 control chromosomes
PubMed: Nishimura 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
-
4-generation family, 1 affected
-
yes
Spain
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.601A>T
r.(?)
p.(Ile201Phe)
Parent #1
-
pathogenic
g.29296527T>A
g.29073661T>A
-
-
C2orf71_000007
not in 384 control chromosomes; homozygous carrier BBS1:M390R
PubMed: Nishimura 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RPar
-
-
4-generation family, unaffected heterozygous RP carrier with BBS
-
-
Spain
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.601A>T
r.(?)
p.(Ile201Phe)
Parent #1
-
pathogenic
g.29296527T>A
g.29073661T>A
-
-
C2orf71_000007
not in 384 control chromosomes
PubMed: Nishimura 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
-
4-generation family, 3 unaffected heterozygous carriers
-
yes
Spain
-
-
-
-
-
3
Johan den Dunnen
?/.
-
c.668T>C
r.(?)
p.(Leu223Pro)
Unknown
-
VUS
g.29296460A>G
g.29073594A>G
-
-
C2orf71_000091
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
rs771726446
Germline
-
2/1204 cases with retinitis pigmentosa
-
-
-
DNA
SEQ-NG
-
-
retinal disease
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
2
Yoshito Koyanagi
-?/.
-
c.679G>A
r.(?)
p.(Glu227Lys)
Unknown
-
likely benign
g.29296449C>T
g.29073583C>T
C2orf71(NM_001029883.2):c.679G>A (p.(Glu227Lys))
-
C2orf71_000117
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
1
c.679G>A
r.(?)
p.(Glu227Lys)
Unknown
-
likely benign
g.29296449C>T
-
c.679G>A
-
C2orf71_000117
-
PubMed: Audo 2011
-
-
Unknown
no
5/418 patient chromosomes; 0/190 control chromosomes
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.707T>G
r.(?)
p.(Ile236Ser)
Unknown
ACMG
likely pathogenic
g.29296421A>C
-
-
-
C2orf71_000138
-
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
+/.
1
c.712A>T
r.(?)
p.(Lys238Ter)
Both (homozygous)
-
pathogenic (recessive)
g.29296416T>A
g.29073550T>A
-
-
C2orf71_000157
-
PubMed: Beheshtian 2015
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
retinal disease
9300046/I-40320
PubMed: Beheshtian 2015
4-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives
M
yes
Iran
-
-
-
-
-
2
LOVD
?/.
1
c.728T>C
r.(?)
p.(Leu243Pro)
Parent #1
-
VUS
g.29296400A>G
-
c.728T>C
-
C2orf71_000223
-
PubMed: Panneman 2023
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
RP-LCA smMIPs sequencing
RP
-
PubMed: Panneman 2023
-
M
-
-
-
-
-
-
-
1
Daan Panneman
?/.
-
c.740T>A
r.(?)
p.(Val247Asp)
Unknown
-
VUS
g.29296388A>T
g.29073522A>T
PCARE(NM_001029883.2):c.740T>A (p.V247D), PCARE(NM_001029883.3):c.740T>A (p.V247D)
-
C2orf71_000045
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.740T>A
r.(?)
p.(Val247Asp)
Unknown
-
VUS
g.29296388A>T
g.29073522A>T
PCARE(NM_001029883.2):c.740T>A (p.V247D), PCARE(NM_001029883.3):c.740T>A (p.V247D)
-
C2orf71_000045
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.740T>A
r.(?)
p.(Val247Asp)
Unknown
-
VUS
g.29296388A>T
-
PCARE(NM_001029883.2):c.740T>A (p.V247D), PCARE(NM_001029883.3):c.740T>A (p.V247D)
-
C2orf71_000045
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
1
c.740T>C
r.(?)
p.(Val247Ala)
Unknown
-
benign
g.29296388A>G
-
c.740T>T
-
C2orf71_000211
-
PubMed: Audo 2011
-
rs77828062
Unknown
-
1/418 patient chromosomes; 0/190 control chromosomes
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.755C>A
r.(?)
p.(Ala252Asp)
Parent #1
-
VUS
g.29296373G>T
g.29073507G>T
-
-
C2orf71_000010
-
PubMed: Neveling 2012
-
-
Germline
no
-
-
-
-
DNA
SEQ, SEQ-NG-S
-
-
retinal disease
-
-
-
M
-
-
-
-
-
-
-
1
Kornelia Neveling
-/.
1
c.755C>A
r.(?)
p.(Ala252Asp)
Unknown
-
benign
g.29296373G>T
-
c.755C>A
-
C2orf71_000010
-
PubMed: Audo 2011
-
rs29149877
Unknown
-
10/418 patient chromosomes; 1/190 control chromosomes
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.758G>A
r.(?)
p.(Trp253*)
Both (homozygous)
-
pathogenic (recessive)
g.29296370C>T
-
2:29296370C>T ENST00000331664.5:c.758G>A (Trp253Ter)
-
C2orf71_000142
-
PubMed: Carss 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
retinal disease
G000983
PubMed: Carss 2017
-
M
-
United Kingdom (Great Britain)
Asia-South
-
-
-
-
1
LOVD
+/.
-
c.758G>A
r.(?)
p.(Trp253*)
Both (homozygous)
-
pathogenic
g.29296370C>T
g.29073504C>T
C2orf71 c.758G>A, p.Trp253Ter
-
C2orf71_000142
homozygous
PubMed: Turro 2020
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole genome sequencing
retinal disease
G000983
PubMed: Turro 2020
only individuals with mutations in retinal disease genes from this publication were inserted into LOVD
?
-
(United Kingdom (Great Britain))
-
-
-
-
-
1
LOVD
+/.
1
c.759G>A
r.(?)
p.(Trp253*)
Paternal (confirmed)
-
pathogenic
g.29296369C>T
g.29073503C>T
W253X
-
C2orf71_000001
homozygosity mapping; not in 200 control chromosomes
PubMed: Nishimura 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
-
4-generation family, 8 affected
-
yes
-
-
-
-
-
-
8
Johan den Dunnen
+/.
1
c.759G>A
r.(?)
p.(Trp253*)
Maternal (confirmed)
-
pathogenic
g.29296369C>T
g.29073503C>T
W253X
-
C2orf71_000001
homozygosity mapping; not in 200 control chromosomes
PubMed: Nishimura 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
-
4-generation family, 8 affected
-
yes
-
-
-
-
-
-
8
Johan den Dunnen
+/.
1
c.759G>A
r.(?)
p.(Trp253*)
Parent #1
-
pathogenic
g.29296369C>T
g.29073503C>T
W253X
-
C2orf71_000001
homozygosity mapping; not in 200 control chromosomes
PubMed: Nishimura 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
4-generation family, unaffected carriers
-
yes
-
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.769A>T
r.(?)
p.(Lys257Ter)
Unknown
-
likely pathogenic (recessive)
g.29296359T>A
g.29073493T>A
-
-
C2orf71_000162
-
PubMed: Xu 2014
-
-
Germline
-
1/314 case chromosomes
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
RP301
PubMed: Xu 2014
-
-
-
China
-
-
-
-
-
1
LOVD
+/.
1
c.769A>T
r.(?)
p.(Lys257*)
Both (homozygous)
-
pathogenic
g.29296359T>A
-
c.769A>T
-
C2orf71_000162
-
PubMed: Fu-2013
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
-
PubMed: Fu-2013
-
M
-
China
Chinese
-
-
-
-
2
LOVD
+/.
1
c.769A>T
r.(?)
p.(Lys257*)
Both (homozygous)
-
pathogenic
g.29296359T>A
-
c.769A>T
-
C2orf71_000162
-
PubMed: Fu-2013
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
-
PubMed: Fu-2013
-
M
-
China
Chinese
-
-
-
-
2
LOVD
-?/.
1
c.773G>T
r.(?)
p.(Arg258Ile)
Unknown
-
likely benign
g.29296355C>A
-
c.773G>T
-
C2orf71_000210
-
PubMed: Audo 2011
-
-
Unknown
?
1/418 patient chromosomes; 0/190 control chromosomes
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.776_777del
r.(?)
p.(Glu259Alafs*51)
Both (homozygous)
-
pathogenic
g.29296348_29296349del
-
-
-
C2orf71_000060
Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message.
Sharon, submitted
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
Sharon, submitted
-
M
no
Israel
Ethiopia;Jewish
-
-
-
-
2
Dror Sharon
+/.
-
c.776_777del
r.(?)
p.(Glu259Alafs*51)
Unknown
-
pathogenic
g.29296355_29296356del
g.29073489_29073490del
-
-
C2orf71_000060
-
-
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
M
-
-
-
-
-
-
-
1
IMGAG
+/.
-
c.776_777del
r.(?)
p.(Glu259Alafs*51)
Unknown
ACMG
pathogenic
g.29296351_29296352del
-
-
-
C2orf71_000060
-
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.776_777del
r.(?)
p.(Glu259Alafs*51)
Both (homozygous)
-
pathogenic (recessive)
g.29296355_29296356del
g.29073489_29073490del
776_777delAG
-
C2orf71_000060
-
PubMed: Ben Yosef 2023
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
MIPs
RP54
Fam19Pat1
PubMed: Sharon 2020
,
PubMed: Ben Yosef 2023
family, 2 affected
M
no
Israel
Ethiopia;Jew
-
-
-
-
2
Tamar Ben-Yosef
+?/.
-
c.776_777del
r.(?)
p.(Glu259Alafs*51)
Both (homozygous)
-
pathogenic (recessive)
g.29296355_29296356del
g.29073489_29073490del
776_777delAG
-
C2orf71_000060
-
PubMed: Ben Yosef 2023
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
MIPs
RP54
Fam19Pat2
PubMed: Sharon 2020
,
PubMed: Ben Yosef 2023
sib
M
-
Israel
Ethiopia;Jew
-
-
-
-
1
Tamar Ben-Yosef
+/.
-
c.776_777del
r.(?)
p.(Glu259AlafsTer51)
Unknown
ACMG
pathogenic (recessive)
g.29296355_29296356del
g.29073489_29073490del
-
-
C2orf71_000060
ACMG PM2, PVS1, PP5
PubMed: Weisschuh 2024
812239
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
CRD-773
PubMed: Weisschuh 2024
patient, no family history
M
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.802C>T
r.(?)
p.(Gln268*)
Parent #2
-
pathogenic (recessive)
g.29296326G>A
-
c.802C>T
-
C2orf71_000209
-
PubMed: Gerth Kahlert 2017
-
-
Unknown
yes
-
-
-
-
DNA
SEQ-NG, SEQ
-
-
retinal disease
Fam9- 11
PubMed: Gerth Kahlert 2017
-
M
-
-
Lebanese/Armenian
-
-
-
-
1
LOVD
?/.
-
c.814C>A
r.(?)
p.(Gln272Lys)
Unknown
-
VUS
g.29296314G>T
g.29073448G>T
C2orf71(NM_001029883.2):c.814C>A (p.Q272K)
-
C2orf71_000116
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.814C>T
r.(?)
p.(Gln272Ter)
Both (homozygous)
ACMG
pathogenic
g.29296314G>A
g.29073448G>A
-
-
C2orf71_000231
-
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
smMIP-based 105 iMD/AMD genes
macular dystrophy
073383
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
M
-
-
-
-
-
-
-
1
Rebekkah Hitti-Malin
+/.
1
c.814C>T
r.(?)
p.(Gln272Ter)
Both (homozygous)
ACMG
pathogenic
g.29296314G>A
g.29073448G>A
-
-
C2orf71_000231
-
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
smMIP-based 105 iMD/AMD genes
macular dystrophy
074649
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
M
-
-
-
-
-
-
-
1
Rebekkah Hitti-Malin
-?/.
-
c.867C>T
r.(?)
p.(Thr289=)
Unknown
-
likely benign
g.29296261G>A
-
PCARE(NM_001029883.2):c.867C>T (p.T289=)
-
C2orf71_000135
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.878T>C
r.(?)
p.(Leu293Pro)
Both (homozygous)
ACMG
VUS
g.29296250A>G
g.29073384A>G
C2orf71 c.T878C, p.L293P
-
C2orf71_000188
marked as causative, homozygous
PubMed: Ma 2021
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I, SEQ
-
whole exome sequencing
retinal disease
99
PubMed: Ma 2021
-
?
-
Korea
-
-
-
-
-
1
LOVD
-?/.
-
c.879G>T
r.(?)
p.(Leu293=)
Unknown
-
likely benign
g.29296249C>A
-
PCARE(NM_001029883.2):c.879G>T (p.L293=)
-
C2orf71_000134
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.895T>G
r.(?)
p.(Tyr299Asp)
Unknown
-
VUS
g.29296233A>C
-
-
-
C2orf71_000234
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
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