Global Variome shared LOVD
TSPAN12 (tetraspanin 12)
LOVD v.3.0 Build 30b [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Carmel Toomes
View all genes
View TSPAN12 gene homepage
View graphs about the TSPAN12 gene database
Create a new gene entry
View all transcripts
View all transcripts of gene TSPAN12
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene TSPAN12
View all variants in gene TSPAN12
Full data view for gene TSPAN12
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
View all individuals with variants in gene TSPAN12
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene TSPAN12
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene TSPAN12
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
Full data view for gene TSPAN12
This database is one of the
"Eye disease"
gene variant databases.
The variants shown are described using the NM_012338.3 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
conflicting
association
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arrayMET = array for methylation analysis
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = single molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
163 entries on 2 pages. Showing entries 1 - 100.
10 per page
25 per page
50 per page
100 per page
Legend
How to query
« First
Prev
1
2
Next
Last »
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
+/.
7i_8_
c.(612+1_613-1)_*1272{0}
r.?
p.?
Parent #1
-
pathogenic
g.(?_120427374)_(120428952_120446602)del
-
del ex8
-
TSPAN12_000096
-
PubMed: Huang 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG, PCRq
-
790-gene panel
retinal disease
Pat2
PubMed: Huang 2017
2-generation family, 4 affeceted (2F, 2M)
F;M
-
China
-
-
-
-
-
4
LOVD
+/.
_1_8_
c.-374_*1272{0}
r.0?
c.0?
Unknown
-
pathogenic (dominant)
g.(?_120427374)_(120498177_?)del
g.(?_120787320)_(120858123_?)del
7q22 gene deletion
-
TSPAN12_000097
-
PubMed: Miller 2015
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
?
-
-
EVR;FEVR
patient
PubMed: Miller 2015
-
F
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
2
c.1A>G
r.(?)
p.0?
Maternal (confirmed)
-
pathogenic (dominant)
g.120496817T>C
g.120856763T>C
-
-
TSPAN12_000039
-
PubMed: Li 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-ON
-
-
EVR5, EVR;FEVR, PHPVAR
IV:1
PubMed: Li 2019
4 generation family, 6 affected (2 severe, 4 mild)
M
no
China
-
-
-
-
-
6
Jasmine Chen
+/.
2
c.1A>G
r.?
p.?
Unknown
-
pathogenic
g.120496817T>C
g.120856763T>C
-
-
TSPAN12_000039
-
PubMed: Yuan 2019
-
rs1341600790
Germline
yes
3/120 patients, 0/500 individual controls
-
-
-
DNA
SEQ-NG-I
peripheral blood
Sanger sequencing
EVR5
Fam1PatI2
PubMed: Yuan 2019
2-generation family, mother/daughter/son
F
?
China
Chinese
-
-
-
-
3
Dong Sun
+/.
2
c.1A>G
r.?
p.?
Maternal (confirmed)
-
VUS
g.120496817T>C
g.120856763T>C
-
-
TSPAN12_000039
-
PubMed: Yuan 2019
-
rs1341600790
Germline
yes
3/120 patients, 0/500 individual controls
-
-
-
DNA
SEQ-NG-I
peripheral blood
Sanger sequencing
EVR5
Fam1PatII1
PubMed: Yuan 2019
daughter
F
?
China
Chinese
-
-
-
-
1
Dong Sun
+/.
2
c.1A>G
r.?
p.?
Maternal (confirmed)
-
pathogenic
g.120496817T>C
g.120856763T>C
-
-
TSPAN12_000039
-
PubMed: Yuan 2019
-
rs1341600790
Germline
yes
3/120 patients, 0/500 individual controls
-
-
-
DNA
SEQ-NG-I
peripheral blood
Sanger sequencing
EVR5
Fam1PatII2
PubMed: Yuan 2019
son
M
?
(China)
Chinese
-
-
-
-
2
Dong Sun
+/.
-
c.2T>C
r.(?)
p.(Met1?)
Parent #1
-
pathogenic
g.120496816A>G
g.120856762A>G
-
-
TSPAN12_000054
-
PubMed: Tang 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
Fam51
PubMed: Tang 2017
-
-
-
China
-
-
-
-
-
1
LOVD
+?/.
2
c.2T>C
r.(?)
p.(Met1?)
Unknown
-
likely pathogenic
g.120496816A>G
g.120856762A>G
TSPAN12 2T?>?C, Met1Thr
-
TSPAN12_000054
-
PubMed: Wang 2019
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
?
PubMed: Wang 2019
-
-
-
China
-
-
-
-
-
1
LOVD
+?/.
-
c.53A>G
r.(?)
p.(Asn18Ser)
Paternal (confirmed)
-
likely pathogenic
g.120496765T>C
g.120856711T>C
461A>C, Gln154Pro
-
TSPAN12_000087
-
PubMed: Chen 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
blood
paediatric disease gene panel
retinal disease
RD046_II:1
PubMed: Chen 2019
proband, family RD046, individual II:1
M
no
China
-
-
-
-
-
2
LOVD
+?/.
-
c.53A>G
r.(?)
p.(Asn18Ser)
Unknown
-
likely pathogenic
g.120496765T>C
g.120856711T>C
461A>C, Gln154Pro
-
TSPAN12_000087
-
PubMed: Chen 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
paediatric disease gene panel
retinal disease
RD046_I:1
PubMed: Chen 2019
father, family RD046, individual I:1
M
no
China
-
-
-
-
-
1
LOVD
?/.
-
c.56T>G
r.(?)
p.(Leu19Arg)
Unknown
-
VUS
g.120496762A>C
g.120856708A>C
-
-
TSPAN12_000032
-
PubMed: Seo 2016
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
PCRm, PCRsqd
-
-
EVR5, EVR;FEVR
Patient 4
PubMed: Seo 2016
pedigree unavailable
M
?
Korea, South (Republic)
-
-
-
-
-
1
Jasmine Chen
+?/.
-
c.56T>G
r.(?)
p.(Leu19Arg)
Parent #1
-
likely pathogenic (dominant)
g.120496762A>C
g.120856708A>C
-
-
TSPAN12_000032
not in 288 control alleles
PubMed: Seo 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
Pat18
PubMed: Seo 2015
-
M
-
Korea
-
-
-
-
-
1
LOVD
+?/.
-
c.66+1G>A
r.spl?
p.?
Unknown
-
likely pathogenic
g.120496751C>T
g.120856697C>T
-
-
TSPAN12_000010
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.67-3C>T
r.spl?
p.?
Unknown
-
likely benign
g.120480166G>A
g.120840112G>A
TSPAN12(NM_012338.4):c.67-3C>T
-
TSPAN12_000003
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.67-2A>G
r.spl
p.?
Maternal (confirmed)
-
likely pathogenic
g.120480165T>C
g.120840111T>C
-
-
TSPAN12_000056
-
PubMed: Iarossi 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
Fam6
PubMed: Iarossi 2017
2-generation family, 1 affected, carrier mother
M
-
Italy
-
-
-
-
-
1
LOVD
+/.
2i
c.67-2A>G
r.spl
p.?
Unknown
-
pathogenic (dominant)
g.120480165T>C
-
IVS2 c.67-2A>G
-
TSPAN12_000056
-
PubMed: Amorelli 2019
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
EVR;FEVR
patient
PubMed: Amorelli 2019
-
M
-
Italy
-
-
-
-
-
1
Johan den Dunnen
+/.
2i
c.67-1G>C
r.spl
p.Leu23Glyfs*66
Both (homozygous)
-
likely pathogenic (recessive)
g.120480164C>G
g.120840110C>G
-
-
TSPAN12_000031
-
PubMed: Poulter 2012
-
-
Germline
yes
-
-
-
-
DNA
PCR
-
direct sequencing
EVR5, EVR;FEVR
TM IV:1
PubMed: Poulter 2012
4 generation family, 1 severely affected, 3 mildly affected
F
yes
India
-
-
-
-
-
4
Jasmine Chen
+/.
2i
c.67-1G>C
r.spl
p.Leu23Glyfs*66
Paternal (inferred)
-
likely pathogenic
g.120480164C>G
g.120840110C>G
-
-
TSPAN12_000031
-
PubMed: Poulter 2012
-
-
Germline
?
-
-
-
-
DNA
PCR
-
direct sequencing
EVR5, EVR;FEVR
TM III:9
PubMed: Poulter 2012
4 generation family, 1 severely affected, 3 mildly affected
M
no
India
-
-
-
-
-
1
Jasmine Chen
+/.
3
c.68T>G
r.(?)
p.(Leu23*)
Unknown
-
VUS
g.120480162A>C
g.120840108A>C
-
-
TSPAN12_000030
-
PubMed: Poulter 2010
-
-
De novo
?
-
-
-
-
DNA
?
-
direct sequencing
EVR5, EVR;FEVR
Individual Patient 1
PubMed: Poulter 2010
Isolated patient (no reported eye problems in family)
F
?
United States
-
-
-
-
-
1
Jasmine Chen
+/.
3
c.125T>C
r.(?)
p.(Val42Ala)
Unknown
-
pathogenic
g.120480105A>G
g.120840051A>G
-
-
TSPAN12_000061
-
PubMed: Musada 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
FZD4, LRP5, TSPAN12
retinal disease
Fam10
PubMed: Musada 2016
see paper
-
yes
India
-
-
-
-
-
1
LOVD
+/.
3
c.146C>T
r.(?)
p.(Thr49Met)
Unknown
-
pathogenic
g.120480084G>A
g.120840030G>A
-
-
TSPAN12_000029
heterozygous, either germline or de novo
PubMed: Poulter 2012
-
-
Germline/De novo (untested)
?
0/500 control chromosomes
-
-
-
DNA
PCR
-
direct sequencing
EVR5, EVR;FEVR
Individual 1
PubMed: Poulter 2012
Sporadic patient
F
no
United Kingdom (Great Britain)
Nigerian
-
-
-
-
1
Jasmine Chen
+/.
-
c.146C>T
r.(?)
p.(Thr49Met)
Parent #1
-
likely pathogenic
g.120480084G>A
g.120840030G>A
-
-
TSPAN12_000029
-
PubMed: Yang 2011
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ
-
direct sequencing
EVR5, EVR;FEVR
Family 1 II:1
PubMed: Yang 2011
2 generation family, 1 affected
M
no
China
-
-
-
-
-
1
Jasmine Chen
+?/.
-
c.146C>T
r.(?)
p.(Thr49Met)
Unknown
-
likely pathogenic
g.120480084G>A
g.120840030G>A
146C>T, Thr49Met
-
TSPAN12_000029
-
PubMed: Chen 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
custom genetic pediatric retinal disease panel (Tang et al., 2017)
retinal disease
214
PubMed: Chen 2020
-
?
-
China
-
-
-
-
-
1
LOVD
+/.
-
c.149+1G>A
r.spl
p.?
Unknown
-
pathogenic
g.120480080C>T
g.120840026C>T
-
-
TSPAN12_000068
-
PubMed: Salvo 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
163-gene panel
retinal disease
16305001
PubMed: Salvo 2015
family
-
-
United States
-
-
-
-
-
1
LOVD
+/.
-
c.149+1G>A
r.spl
p.?
Unknown
-
pathogenic
g.120480080C>T
g.120840026C>T
-
-
TSPAN12_000068
-
PubMed: Salvo 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
163-gene panel
retinal disease
16307001
PubMed: Salvo 2015
family
-
-
United States
-
-
-
-
-
1
LOVD
+?/.
4i
c.149+3A>G
r.spl?
p.?
Maternal (inferred)
-
likely pathogenic (dominant)
g.120480078T>C
g.120840024T>C
-
-
TSPAN12_000028
-
PubMed: Poulter 2010
-
-
Germline
yes
0/500 control chromosomes
-
-
-
DNA
?
-
direct sequencing
EVR5, EVR;FEVR
Family 3 III:1
PubMed: Poulter 2010
3 generation family, 2 affected
F
no
United States
European
-
-
-
-
2
Jasmine Chen
+?/.
-
c.149+3A>G
r.spl?
p.?
Maternal (confirmed)
-
VUS
g.120480078T>C
g.120840024T>C
-
-
TSPAN12_000028
-
PubMed: Carroll 2019
-
-
Germline
yes
-
-
-
-
DNA
?
blood
-
EVR5
Fam
PubMed: Carroll 2019
family, affected and asymptomatic heterozygous carriers
F
?
-
white
-
-
-
laser-assisted in situ keratomileusis (LASIK)
3
Dong Sun
+?/.
-
c.149+3A>G
r.spl?
p.?
Maternal (confirmed)
-
VUS
g.120480078T>C
g.120840024T>C
-
-
TSPAN12_000028
-
PubMed: Carroll 2019
-
-
Germline
yes
-
-
-
-
DNA
?
blood
-
EVR5
Fam
PubMed: Carroll 2019
younger sister
F
?
-
white
-
-
-
-
1
Dong Sun
+?/.
-
c.149+3A>G
r.spl?
p.?
Unknown
-
VUS
g.120480078T>C
g.120840024T>C
-
-
TSPAN12_000028
-
PubMed: Carroll 2019
-
-
Germline
yes
-
-
-
-
DNA
?
blood
-
EVR5
Fam
PubMed: Carroll 2019
mother
F
-
-
white
-
-
-
-
1
Dong Sun
+/.
-
c.150-1G>A
r.spl
p.?
Parent #1
-
pathogenic
g.120478967C>T
g.120838913C>T
-
-
TSPAN12_000053
-
PubMed: Tang 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
Fam49
PubMed: Tang 2017
-
-
-
China
-
-
-
-
-
1
LOVD
+?/.
3i
c.150-1G>A
r.spl
p.(?)
Unknown
-
likely pathogenic
g.120478967C>T
g.120838913C>T
TSPAN12 150-1G?>?A, IVS3 ds G-A ?1
-
TSPAN12_000053
-
PubMed: Wang 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
?
PubMed: Wang 2019
-
-
-
China
-
-
-
-
-
1
LOVD
+/.
-
c.171_172ins
r.(?)
p.(Thr58Tyrfs*59)
Unknown
-
pathogenic
g.?
g.?
c.171_172ins, p.(Thr58Tyrfs*59)
-
EZH2_000001
error in annotation: inserted nucleotides not written, heterozygous
PubMed: Wang 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
panel of 126 genes
retinal disease
13703
PubMed: Wang 2019
-
F
-
China
-
-
-
-
-
1
LOVD
?/.
-
c.175T>G
r.(?)
p.(Tyr59Asp)
Unknown
-
VUS
g.120478941A>C
g.120838887A>C
-
-
TSPAN12_000009
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
4
c.177del
r.(?)
p.(Tyr59fs*67)
Maternal (confirmed)
-
pathogenic (dominant)
g.120478939del
g.120838885del
177delC
-
TSPAN12_000038
0/400 control chromosomes
PubMed: Xu 2014
-
-
Germline
yes
-
-
-
-
DNA
PCR
-
direct sequencing
EVR5, EVR;FEVR
B II:1
PubMed: Xu 2014
2 generation family, 1 affected
F
no
China
-
-
-
-
-
1
Jasmine Chen
+?/.
-
c.193C>T
r.(?)
p.(Pro65Ser)
Unknown
-
likely pathogenic
g.120478923G>A
g.120838869G>A
c.193G>A, p.(Pro65Ser)
-
TSPAN12_000086
error in annotation: c.193G>A instead of C>T, heterozygous
PubMed: Wang 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
panel of 126 genes
retinal disease
13415
PubMed: Wang 2019
-
M
-
China
-
-
-
-
-
1
LOVD
?/.
-
c.194C>T
r.(?)
p.(Pro65Leu)
Parent #1
-
VUS
g.120478922G>A
g.120838868G>A
-
-
TSPAN12_000063
not in 354 control alleles
PubMed: Seo 2015
-
-
Germline
-
2/51 patients
-
-
-
DNA
SEQ
-
-
retinal disease
patient
PubMed: Seo 2015
FEVR patients
-
-
Korea
-
-
-
-
-
2
LOVD
?/.
4
c.194C>T
r.(?)
p.(Pro65Leu)
Maternal (confirmed)
ACMG
VUS
g.120478922G>A
g.120838868G>A
c.194C>T, p.P65L
-
TSPAN12_000063
-
PubMed: Surl 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
8
PubMed: Li 2018
-
F
-
China
-
-
-
-
-
1
LOVD
?/.
4
c.194C>T
r.(?)
p.(Pro65Leu)
Maternal (confirmed)
ACMG
VUS
g.120478922G>A
g.120838868G>A
TPSAN12 c.194C>T, p.P65L
-
TSPAN12_000063
heterozygous
PubMed: Li 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
9
PubMed: Li 2020
-
M
-
-
-
-
-
-
-
1
LOVD
+?/.
5
c.194C>T
r.(?)
p.(Pro65Leu)
Unknown
-
likely pathogenic (dominant)
g.120478922G>A
-
c.194C>T
-
TSPAN12_000063
-
PubMed: Liu-2020
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
hereditary eye disease enrichment panel (HEDEP)
retinal disease
-
PubMed: Liu-2020
-
F
-
-
-
-
-
-
-
1
LOVD
?/.
-
c.194C>T
r.(?)
p.(Pro65Leu)
Paternal (confirmed)
-
VUS
g.120478922G>A
g.120838868G>A
-
-
TSPAN12_000063
variant in unaffected father
PubMed: Fan 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
792 gene panel
CTRCT
Pat10
PubMed: Fan 2020
2-generation family, 1 affected
-
-
China
-
-
-
-
-
1
Johan den Dunnen
+?/.
4
c.212G>T
r.(?)
p.(Cys71Phe)
Unknown
-
likely pathogenic
g.120478904C>A
g.120838850C>A
TSPAN12 212G?>?T, Cys71Phe
-
TSPAN12_000085
-
PubMed: Wang 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
?
PubMed: Wang 2019
-
-
-
China
-
-
-
-
-
1
LOVD
+?/.
-
c.212G>T
r.(?)
p.(Cys71Phe)
Unknown
-
likely pathogenic
g.120478904C>A
g.120838850C>A
c.212C>A, p.(Cys71Phe)
-
TSPAN12_000085
error in annotation: c.212C>A instead of G>T, heterozygous
PubMed: Wang 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
panel of 126 genes
retinal disease
13675
PubMed: Wang 2019
-
M
-
China
-
-
-
-
-
1
LOVD
+/.
4
c.212_218dup
r.(?)
p.(Phe73Leufs*46)
Paternal (confirmed)
-
likely pathogenic (dominant)
g.120478907_120478913dup
g.120838853_120838859dup
218_219insGCTCTTT
-
TSPAN12_000042
figure shows insertion of GCTGTTT not GCTCTTT; premature termination at codon 118
PubMed: Poulter 2010
-
-
Germline
?
-
-
-
-
DNA
?
-
-
EVR5, EVR;FEVR
Family 1 III:2
PubMed: Poulter 2010
3 generation family, 1 affected (1 unusual fundus appearance), 1 carrier
F
no
Australia
-
-
-
-
-
2
Jasmine Chen
+/.
4
c.212_218dup
r.(?)
p.(Phe73Leufs*46)
Parent #1
-
likely pathogenic (dominant)
g.120478907_120478913dup
g.120838853_120838859dup
218_219insGCTCTTT
-
TSPAN12_000042
figure shows insertion of GCTGTTT not GCTCTTT; premature termination at codon 118
PubMed: Poulter 2010
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
?
-
direct sequencing
EVR;FEVR
Family 1 II:2
PubMed: Poulter 2010
3 generation family, 1 affected, II:2 with unusual fundus appearance
M
no
Australia
-
-
-
-
-
1
Jasmine Chen
+/.
-
c.225_227del
r.(?)
p.(Ile76del)
Unknown
-
pathogenic
g.120478889_120478891del
-
7:120478888AATG>A ENST00000222747.3:c.225_227delCAT (Ile76del)
-
TSPAN12_000047
-
PubMed: Carss 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
retinal disease
G001414
PubMed: Carss 2017
-
F
-
United Kingdom (Great Britain)
Europe
-
-
-
-
1
LOVD
+?/.
-
c.225_227del
r.(?)
p.(Ile76del)
Unknown
-
likely pathogenic
g.120478891_120478893del
g.120838837_120838839del
TSPAN12 c.225_227delCAT, p.Ile76del
-
TSPAN12_000047
heterozygous
PubMed: Turro 2020
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole genome sequencing
retinal disease
G001414
PubMed: Turro 2020
only individuals with mutations in retinal disease genes from this publication were inserted into LOVD
?
-
(United Kingdom (Great Britain))
-
-
-
-
-
1
LOVD
+/.
-
c.234del
r.(?)
p.(Met79CysfsTer2)
Parent #1
-
pathogenic
g.120478885del
g.120838831del
231del
-
TSPAN12_000062
not in 624 control chromosomes
PubMed: Sun 2015
-
-
Germline
-
1/596 chromosomes
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
HM674
PubMed: Sun 2015
proband
-
-
China
-
-
-
-
-
1
LOVD
+/.
-
c.234del
r.(?)
p.(Met79Cysfs*2)
Unknown
-
pathogenic
g.120478885del
g.120838831del
c.234del, p.(Met79Cysfs*2)
-
TSPAN12_000062
heterozygous
PubMed: Wang 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
panel of 126 genes
retinal disease
14390
PubMed: Wang 2019
-
M
-
China
-
-
-
-
-
1
LOVD
+?/.
-
c.253A>C
r.(?)
p.(Thr85Pro)
Unknown
-
likely pathogenic
g.120478863T>G
g.120838809T>G
c.253A>C, p.(Thr85Pro)
-
TSPAN12_000084
error in annotation: c.253T>G instead of A>C, heterozygous
PubMed: Wang 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
panel of 126 genes
retinal disease
14394
PubMed: Wang 2019
-
M
-
China
-
-
-
-
-
1
LOVD
+?/.
-
c.253A>C
r.(?)
p.(Thr85Pro)
Unknown
-
likely pathogenic
g.120478863T>G
g.120838809T>G
c.253T>G, p.(Thr85Pro)
-
TSPAN12_000084
error in annotation: c.253T>G instead of A>C, heterozygous
PubMed: Wang 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
panel of 126 genes
retinal disease
14885
PubMed: Wang 2019
-
F
-
China
-
-
-
-
-
1
LOVD
+/.
-
c.254C>T
r.(?)
p.(Thr85Met)
Maternal (confirmed)
-
pathogenic (dominant)
g.120478862G>A
g.120838808G>A
-
-
TSPAN12_000037
0/400 control chromosomes
PubMed: Xu 2014
-
-
Germline
yes
-
-
-
-
DNA
PCR
-
direct sequencing
EVR5, EVR;FEVR
C II:1
PubMed: Xu 2014
2 generation family, 1 affected
M
no
China
-
-
-
-
-
1
Jasmine Chen
?/.
4
c.274C>T
r.(?)
p.(Leu92Phe)
Unknown
-
VUS
g.120478842G>A
g.120838788G>A
C274T
-
TSPAN12_000069
-
PubMed: Katagiri 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
RP#021
PubMed: Katagiri 2014
family
-
-
Japan
-
-
-
-
-
1
LOVD
?/.
4_
c.285+1G>A
r.spl
p.?
Unknown
-
VUS
g.120478830C>T
g.120838776C>T
-
-
TSPAN12_000026
heterozygous
PubMed: Poulter 2012
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
PCR
-
direct sequencing
EVR5, EVR;FEVR
Individual 1
PubMed: Poulter 2012
Sporadic patient
F
no
United Kingdom (Great Britain)
Nigerian
-
-
-
-
1
Jasmine Chen
+/.
-
c.285+1G>A
r.spl
p.?
Parent #1
-
pathogenic
g.120478830C>T
g.120838776C>T
-
-
TSPAN12_000026
-
PubMed: Tang 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
Fam20
PubMed: Tang 2017
-
-
-
China
-
-
-
-
-
1
LOVD
+?/.
4i
c.285+1G>A
r.spl
p.(?)
Unknown
-
likely pathogenic
g.120478830C>T
g.120838776C>T
TSPAN12 285+1G�>�A, IVS4 ds G-A +1
-
TSPAN12_000026
-
PubMed: Wang 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
?
PubMed: Wang 2019
-
-
-
China
-
-
-
-
-
1
LOVD
+?/.
2
c.286-2A>C
r.spl
p.(?)
Unknown
-
likely pathogenic
g.120455859T>G
g.120815805T>G
TSPAN12 286-2A?>?C, -
-
TSPAN12_000083
-
PubMed: Wang 2019
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
?
PubMed: Wang 2019
-
-
-
China
-
-
-
-
-
1
LOVD
+?/.
-
c.286-2A>C
r.spl
p.(?)
Unknown
-
likely pathogenic
g.120455859T>G
g.120815805T>G
286-2A>C, -
-
TSPAN12_000083
-
PubMed: Chen 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
custom genetic pediatric retinal disease panel (Tang et al., 2017)
retinal disease
146
PubMed: Chen 2020
-
?
-
China
-
-
-
-
-
1
LOVD
+/.
4i
c.286-2A>G
r.spl
p.?
Both (homozygous)
-
pathogenic
g.120455859T>C
-
IVS4-2A>G
-
TSPAN12_000095
variant description assumes reference transcript intron numbering (not specified in paper)
PubMed: Keser 2017
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ-NG
-
gene panel
retinal disease
NCRNA9
PubMed: Keser 2017
-
-
-
Pakistan
-
-
-
-
-
1
LOVD
+?/.
5
c.286-1G>T
r.spl
p.(?)
Unknown
-
likely pathogenic
g.120455858C>A
g.120815804C>A
TSPAN12 286-1G?>?T, -
-
TSPAN12_000082
-
PubMed: Wang 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
?
PubMed: Wang 2019
-
-
-
China
-
-
-
-
-
1
LOVD
+?/.
5
c.286-1G>T
r.spl
p.(?)
Unknown
-
likely pathogenic
g.120455858C>A
g.120815804C>A
TSPAN12 286-1G?>?T, -
-
TSPAN12_000082
-
PubMed: Wang 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
?
PubMed: Wang 2019
-
-
-
China
-
-
-
-
-
1
LOVD
+?/.
5
c.302T>A
r.(?)
p.(Leu101His)
Paternal (confirmed)
-
likely pathogenic
g.120455841A>T
g.120815787A>T
-
-
TSPAN12_000025
-
PubMed: Poulter 2010
-
-
Germline
yes
0/400 control chromosomes
-
-
-
DNA
?
-
direct sequencing
EVR5, EVR;FEVR
Family 4 II:1
PubMed: Poulter 2010
2 generation family, 2 affected
M
no
United Kingdom (Great Britain)
-
-
-
-
-
2
Jasmine Chen
+/.
-
c.308T>C
r.(?)
p.(Ile103Thr)
Unknown
-
pathogenic
g.120455835A>G
g.120815781A>G
-
-
TSPAN12_000067
-
PubMed: Salvo 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
163-gene panel
retinal disease
1491001
PubMed: Salvo 2015
family
-
-
United States
-
-
-
-
-
1
LOVD
+/.
-
c.313T>C
r.(?)
p.(Cys105Arg)
Parent #1
-
likely pathogenic
g.120455830A>G
g.120815776A>G
-
-
TSPAN12_000024
-
PubMed: Yang 2011
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ
-
direct sequencing
EVR5, EVR;FEVR
Family 2 II:1
PubMed: Yang 2011
2 generation family, 1 affected
M
no
China
-
-
-
-
-
1
Jasmine Chen
+/.
-
c.315T>A
r.(?)
p.(Cys105Ter)
Unknown
-
pathogenic
g.120455828A>T
g.120815774A>T
-
-
TSPAN12_000008
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
5
c.334G>A
r.(?)
p.(Val112Ile)
Unknown
-
pathogenic
g.120455809C>T
g.120815755C>T
-
-
TSPAN12_000060
-
PubMed: Musada 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
FZD4, LRP5, TSPAN12
retinal disease
Fam15
PubMed: Musada 2016
see paper
-
yes
India
-
-
-
-
-
1
LOVD
+/.
6
c.345T>G
r.(?)
p.(Tyr115*)
Paternal (inferred)
-
pathogenic
g.120455798A>C
-
c.345T>G
-
TSPAN12_000092
-
PubMed: Rao 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
F15
PubMed: Rao 2017
-
F
-
China
-
-
-
-
-
1
LOVD
+/.
6
c.345T>G
r.(?)
p.(Tyr115*)
Paternal (inferred)
-
pathogenic
g.120455798A>C
-
c.345T>G
-
TSPAN12_000092
-
PubMed: Rao 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
F15
PubMed: Rao 2017
-
F
-
China
-
-
-
-
-
1
LOVD
?/.
5
c.346G>A
r.(?)
p.(Glu116Lys)
Parent #1
-
VUS
g.120455797C>T
g.120815743C>T
954G>A
-
TSPAN12_000094
-
PubMed: Zhang 2019
-
-
Germline/De novo (untested)
?
1/29
-
-
-
DNA
PCR
-
gene panel
ROP
Patient 9
PubMed: Zhang 2019
-
F
?
China
-
-
-
-
-
1
Jasmine Chen
+?/.
-
c.352G>T
r.(?)
p.(Glu118*)
Unknown
-
likely pathogenic
g.120455791C>A
g.120815737C>A
352G>T, Glu118X
-
TSPAN12_000090
-
PubMed: Chen 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
custom genetic pediatric retinal disease panel (Tang et al., 2017)
retinal disease
439
PubMed: Chen 2020
-
?
-
China
-
-
-
-
-
1
LOVD
+/.
-
c.360+4A>G
r.spl?
p.(?)
Unknown
-
pathogenic
g.120455779T>C
g.120815725T>C
c.360+4T>C, p.?
-
TSPAN12_000081
error in annotation: c.360+4T>C instead of A>G, heterozygous
PubMed: Wang 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
panel of 126 genes
retinal disease
13879
PubMed: Wang 2019
-
M
-
China
-
-
-
-
-
1
LOVD
-/.
-
c.361-34C>T
r.(=)
p.(=)
Unknown
-
benign
g.120450658G>A
g.120810604G>A
-
-
TSPAN12_000007
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.361-15_361-9del
r.(=)
p.(=)
Unknown
-
likely benign
g.120450637_120450643del
g.120810583_120810589del
TSPAN12(NM_012338.3):c.361-15_361-9delGCTTTTT
-
TSPAN12_000002
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
5i
c.361-5_361-1del
r.spl
p.?
Unknown
-
likely pathogenic
g.120450625_120450629del
g.120810571_120810575del
361-1_361-5delACCAG
-
TSPAN12_000023
mutation removes splice acceptor site including consensus AG, possible outcomes of mutation: deletion of exon 6, retention of intron 5, activation of cryptic splice site
PubMed: Poulter 2010
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
?
-
direct sequencing
EVR5, EVR;FEVR
Individual Patient 2
PubMed: Poulter 2010
Isolated individual
F
?
United Kingdom (Great Britain)
-
-
-
-
-
1
Jasmine Chen
+?/.
-
c.361-2A>G
r.spl
p.(?)
Both (homozygous)
-
likely pathogenic
g.120450626T>C
g.120810572T>C
c.361-2A-->G; p.?
-
TSPAN12_000071
no Sanger sequencing; homozygous
PubMed: Patel 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
-
EVR5
273
PubMed: Patel 2019
-
?
-
United Kingdom (Great Britain)
-
-
-
-
-
1
LOVD
-?/.
-
c.367G>C
r.(?)
p.(Val123Leu)
Unknown
-
likely benign
g.120450618C>G
g.120810564C>G
TSPAN12(NM_012338.3):c.367G>C (p.V123L), TSPAN12(NM_012338.4):c.367G>C (p.V123L)
-
TSPAN12_000017
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.367G>C
r.(?)
p.(Val123Leu)
Unknown
-
likely benign
g.120450618C>G
-
TSPAN12(NM_012338.3):c.367G>C (p.V123L), TSPAN12(NM_012338.4):c.367G>C (p.V123L)
-
TSPAN12_000017
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.375G>A
r.(?)
p.(Trp125*)
Unknown
-
pathogenic
g.120450610C>T
g.120810556C>T
c.375C>T, p.(Trp125*)
-
TSPAN12_000080
error in annotation: c.375C>T instead of G>A, heterozygous
PubMed: Wang 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
panel of 126 genes
retinal disease
13323
PubMed: Wang 2019
-
M
-
China
-
-
-
-
-
1
LOVD
+/.
6
c.413A>G
r.(?)
p.(Tyr138Cys)
Paternal (confirmed)
-
pathogenic
g.120450572T>C
g.120810518T>C
-
-
TSPAN12_000022
mild phenotype, heterozygous
PubMed: Poulter 2012
-
-
Germline
yes
0/500 control chromosomes
-
-
-
DNA
PCR
-
direct sequencing
EVR5, EVR;FEVR
HMH IV:2
PubMed: Poulter 2012
5 generation family, 3 severely affected, 9 mildly affected, 2 phenocopy
F
no
Mexico
-
-
-
-
-
9
Jasmine Chen
+/.
6
c.413A>G
r.(?)
p.(Tyr138Cys)
Both (homozygous)
-
pathogenic (recessive)
g.120450572T>C
g.120810518T>C
-
-
TSPAN12_000022
-
PubMed: Poulter 2012
-
-
Germline
yes
-
-
-
-
DNA
PCR
-
direct sequencing
EVR5, EVR;FEVR
HMH V:7
PubMed: Poulter 2012
5 generation family, 3 severely affected, 2 mildly affected, 2 phenocopy
M
?
Mexico
-
-
-
-
-
3
Jasmine Chen
+/.
-
c.419T>A
r.(?)
p.(Leu140*)
Unknown
-
pathogenic
g.120450566A>T
g.120810512A>T
-
-
TSPAN12_000015
-
PubMed: Kondo 2011
-
-
De novo
?
0/380 control alleles
-
-
-
DNA
PCR
-
direct sequencing
EVR5, EVR;FEVR
Family3PatII1
PubMed: Kondo 2011
2 generation family, 1 affected, isolated
M
no
Japan
-
-
-
-
vitrectomy
1
Jasmine Chen
+/.
-
c.419T>A
r.(?)
p.(Leu140*)
Unknown
-
pathogenic (dominant)
g.120450566A>T
g.120810512A>T
-
-
TSPAN12_000015
-
PubMed: Kondo 2011
-
-
Germline
yes
-
-
-
-
DNA
PCR, SEQ
-
direct sequencing
EVR5, EVR;FEVR
Fam4PatII1
PubMed: Kondo 2011
2 generation family, 2 affected (father/daughter)
F
no
Japan
-
-
-
-
vitrectomy
2
Jasmine Chen
+/.
6
c.419T>A
r.(?)
p.(Leu140*)
Paternal (confirmed)
-
likely pathogenic (dominant)
g.120450566A>T
g.120810512A>T
-
-
TSPAN12_000015
truncated protein (305 to 139 aa)
PubMed: Poulter 2010
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
EVR5, EVR;FEVR
Family 2 II:3
PubMed: Poulter 2010
proband, 2 generation family, 2 affected
F
no
Japan
-
-
-
-
-
2
Jasmine Chen
+/.
-
c.423delT
r.(?)
p.(Arg142Aspfs*21)
Both (homozygous)
-
pathogenic
g.120450562del
g.120810508del
423del T
-
TSPAN12_000058
-
PubMed: Keser 2017
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ-NG
-
gene panel
retinal disease
NCRNA17
PubMed: Keser 2017
-
-
-
Pakistan
-
-
-
-
-
1
LOVD
+/.
7
c.434G>A
r.(?)
p.(Trp145*)
Maternal (confirmed)
-
pathogenic
g.120450551C>T
-
c.434G>A:Trp145X
-
TSPAN12_000093
-
PubMed: Chan 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
Case 2
PubMed: Chan 2016
-
M
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.438dup
r.(?)
p.(Thr147Tyrfs*12)
Parent #1
-
pathogenic
g.120450548dup
g.120810494dup
438_439insT
-
TSPAN12_000052
-
PubMed: Tang 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
Fam50
PubMed: Tang 2017
-
-
-
China
-
-
-
-
-
1
LOVD
+/.
-
c.440C>A
r.(?)
p.(Thr147Asn)
Unknown
-
pathogenic
g.120450545G>T
g.120810491G>T
-
-
TSPAN12_000066
-
PubMed: Salvo 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
163-gene panel
retinal disease
13766001
PubMed: Salvo 2015
family
-
-
United States
-
-
-
-
-
1
LOVD
+?/.
-
c.449G>C
r.(?)
p.(Trp150Ser)
Unknown
-
likely pathogenic
g.120450536C>G
g.120810482C>G
53A>G, Asn18Ser
-
TSPAN12_000079
-
PubMed: Chen 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG, SEQ
blood
paediatric disease gene panel
retinal disease
287_II:1
PubMed: Chen 2019
proband, family 287, individual II:1
M
no
China
-
-
-
-
-
1
LOVD
?/.
-
c.449G>C
r.(?)
p.(Trp150Ser)
Unknown
-
VUS
g.120450536C>G
g.120810482C>G
c.449C>G, p.(Trp150Ser)
-
TSPAN12_000079
error in annotation: c.449C>G instead of G>C, heterozygous
PubMed: Wang 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
panel of 126 genes
retinal disease
14039
PubMed: Wang 2019
-
M
-
China
-
-
-
-
-
1
LOVD
+?/.
-
c.461A>C
r.(?)
p.(Gln154Pro)
Paternal (confirmed)
-
likely pathogenic
g.120450524T>G
g.120810470T>G
716T>C, Leu239Pro
-
TSPAN12_000078
-
PubMed: Chen 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
blood
paediatric disease gene panel
retinal disease
362_II:1
PubMed: Chen 2019
proband, family 362, individual II:1
M
no
China
-
-
-
-
-
2
LOVD
+?/.
-
c.461A>C
r.(?)
p.(Gln154Pro)
Unknown
-
likely pathogenic
g.120450524T>G
g.120810470T>G
716T>C, Leu239Pro
-
TSPAN12_000078
-
PubMed: Chen 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
paediatric disease gene panel
retinal disease
362_I:1
PubMed: Chen 2019
father, family 362, individual I:1
M
no
China
-
-
-
-
-
1
LOVD
+?/.
-
c.461A>C
r.(?)
p.(Gln154Pro)
Unknown
-
likely pathogenic
g.120450524T>G
g.120810470T>G
c.461T>G, p.(Gln154Pro)
-
TSPAN12_000078
error in annotation: c.461T>G instead of A>C, heterozygous
PubMed: Wang 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
panel of 126 genes
retinal disease
14932
PubMed: Wang 2019
-
M
-
China
-
-
-
-
-
1
LOVD
+/.
-
c.464G>C
r.(?)
p.(Arg155Thr)
Parent #1
-
pathogenic
g.120450521C>G
g.120810467C>G
-
-
TSPAN12_000051
-
PubMed: Tang 2017
-
rs768053082
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
Fam54
PubMed: Tang 2017
-
-
-
China
-
-
-
-
-
1
LOVD
+/.
-
c.469-1G>A
r.spl
p.?
Parent #1
-
pathogenic
g.120446747C>T
g.120806693C>T
-
-
TSPAN12_000050
-
PubMed: Tang 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
Fam46
PubMed: Tang 2017
-
-
-
China
-
-
-
-
-
1
LOVD
+?/.
6i
c.469-1G>A
r.spl
p.(?)
Unknown
-
likely pathogenic
g.120446747C>T
g.120806693C>T
TSPAN12 469-1G?>?A, IVS6 ds G-A ?1
-
TSPAN12_000050
-
PubMed: Wang 2019
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
?
PubMed: Wang 2019
-
-
-
China
-
-
-
-
-
1
LOVD
+?/.
7
c.476G>A
r.(?)
p.(Cys159Tyr)
Unknown
-
likely pathogenic
g.120446739C>T
g.120806685C>T
TSPAN12 476G?>?A, Cys159Tyr
-
TSPAN12_000077
-
PubMed: Wang 2019
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
?
PubMed: Wang 2019
-
-
-
China
-
-
-
-
-
1
LOVD
+?/.
-
c.476G>A
r.(?)
p.(Cys159Tyr)
Unknown
-
likely pathogenic
g.120446739C>T
g.120806685C>T
c.476C>T, p.(Cys159Tyr)
-
TSPAN12_000077
error in annotation: c.476C>T instead of G>A, heterozygous
PubMed: Wang 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
panel of 126 genes
retinal disease
14493
PubMed: Wang 2019
-
M
-
China
-
-
-
-
-
1
LOVD
+/.
7
c.479G>A
r.(?)
p.(Cys160Tyr)
Unknown
-
pathogenic
g.120446736C>T
g.120806682C>T
-
-
TSPAN12_000059
-
PubMed: Musada 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
FZD4, LRP5, TSPAN12
retinal disease
Fam11
PubMed: Musada 2016
see paper
-
yes
India
-
-
-
-
-
1
LOVD
+/.
7
c.479G>A
r.(?)
p.(Cys160Tyr)
Unknown
-
pathogenic
g.120446736C>T
g.120806682C>T
-
-
TSPAN12_000059
-
PubMed: Musada 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
FZD4, LRP5, TSPAN12
retinal disease
Fam12
PubMed: Musada 2016
see paper
-
yes
India
-
-
-
-
-
1
LOVD
+/.
7
c.479G>A
r.(?)
p.(Cys160Tyr)
Unknown
-
pathogenic
g.120446736C>T
g.120806682C>T
-
-
TSPAN12_000059
-
PubMed: Musada 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
FZD4, LRP5, TSPAN12
retinal disease
Fam13
PubMed: Musada 2016
see paper
-
-
India
-
-
-
-
-
1
LOVD
+/.
7
c.479G>A
r.(?)
p.(Cys160Tyr)
Unknown
-
pathogenic
g.120446736C>T
g.120806682C>T
-
-
TSPAN12_000059
-
PubMed: Musada 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
FZD4, LRP5, TSPAN12
retinal disease
Fam14
PubMed: Musada 2016
see paper
-
yes
India
-
-
-
-
-
1
LOVD
10 per page
25 per page
50 per page
100 per page
Legend
How to query
« First
Prev
1
2
Next
Last »
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our
APIs
to retrieve data.
Powered by
LOVD v.3.0
Build 30b
LOVD software ©2004-2024
Leiden University Medical Center
Database contents © by their respective submitters and curators