Global Variome shared LOVD
MERTK (c-mer proto-oncogene tyrosine kinase)
LOVD v.3.0 Build 30b [
Current LOVD status
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Curators:
Isabelle Audo
and
Christina Zeitz
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This database is one of the
"Eye disease"
gene variant databases.
The variants shown are described using the NM_006343.2 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
P-domain
: region/domain protein affected
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
conflicting
association
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arrayMET = array for methylation analysis
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = single molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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462 entries on 5 pages. Showing entries 1 - 100.
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Effect
Exon
DNA change (cDNA)
RNA change
Protein
P-domain
Allele
Classification method
Clinical classification
DNA change (genomic) (hg19)
DNA change (hg38)
Published as
ISCN
DB-ID
Variant remarks
Reference
ClinVar ID
dbSNP ID
Origin
Segregation
Frequency
Re-site
VIP
Methylation
Template
Technique
Tissue
Remarks
Disease
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Panel size
Owner
+/.
-
c.(1-?)_(1144+1_1145-1)del
r.?
p.(?)
-
Parent #1
-
pathogenic
g.?
-
c.(1-?)_(1144+1_1145-1)del
-
SNRNP200_000007
-
PubMed: Panneman 2023
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
RP-LCA smMIPs sequencing
RP
-
PubMed: Panneman 2023
-
F
-
-
-
-
-
-
-
1
Daan Panneman
+/.
-
c.(482+1_483-1)_(*127+?)del
r.?
p.(Ser161Argfs*35)
-
Parent #1
-
pathogenic
g.?
-
c.(482+1_483-1)_(*127+?)del
-
SNRNP200_000007
-
PubMed: Panneman 2023
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
RP-LCA smMIPs sequencing
RP
-
PubMed: Panneman 2023
-
M
-
-
-
-
-
-
-
1
Daan Panneman
+?/.
-
p.0
r.0?
p.0?
-
Parent #1
-
likely pathogenic
g.?
g.?
MERTK, variant 1: c.1689_1690+5delinsATATTA/p.?, variant 2 :Deletion entire gene
-
SNRNP200_000007
solved, compound heterozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
RET5 targeted sequencing panel - see paper
retinal disease
850
PubMed: Weisschuh 2020
Filing key number: 350, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given
F
-
Germany
-
-
-
-
-
1
LOVD
+/.
-
c.-8163_1145-1213del
r.?
p.?
-
Both (homozygous)
-
pathogenic
g.112648150_112739206del
g.111890573_111981629del
c.-8163_c.1145-1213del
-
MERTK_000208
-
PubMed: Ellingford 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WGS
retinal disease
065240
PubMed: Ellingford 2016
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+?/.
1i_10i
c.-8162_1145-1212del
r.spl?
p.?
-
Unknown
-
likely pathogenic
g.112648151_112739207del
-
c.-8162_1145-1212del, p.?
-
MERTK_000209
-
PubMed: Jonsson 2018
-
-
Germline
-
-
-
-
-
DNA, RNA
PE, SEQ-NG, RT-PCR, SEQ
blood
-
retinal disease
RP115
PubMed: Jonsson 2018
novel heterozygous variant in the MER proto-oncogene, tyrosine kinase
F
-
-
Sweden
-
-
-
-
1
LOVD
+?/.
1i_10i
c.-8162_1145-1212del
r.spl?
p.?
-
Unknown
-
likely pathogenic
g.112648151_112739207del
-
c.-8162_1145-1212del, p.?
-
MERTK_000209
-
PubMed: Jonsson 2018
-
-
Germline
-
-
-
-
-
DNA, RNA
PE, SEQ-NG, RT-PCR, SEQ
blood
-
retinal disease
RP116
PubMed: Jonsson 2018
novel heterozygous variant in the MER proto-oncogene, tyrosine kinase
M
-
-
Sweden
-
-
-
-
1
LOVD
+/.
_1_7i
c.-8160_1145-1213del
r.0?
p.0?
-
Both (homozygous)
-
pathogenic
g.112648153_112739206del
g.111890576_111981629del
hg18 112364622_112455675del91054
-
MERTK_000040
91 kb deletion, founder mutation Faroe Island, represents 30% of RP
PubMed: Ostergaard 2011
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
?
PubMed: Ostergaard 2011
-
-
-
Faroe Islands
-
-
-
-
-
1
Isabelle Audo
+/.
-
c.(?_-1)_(1144+1_1145-1)del
r.(?)
p.(?)
-
Both (homozygous)
ACMG
pathogenic
g.?
g.?
MERTK c.(?_-1) _(1144+1_1145-1)del c.(?_-1) _(1144+1_1145-1)del
-
SNRNP200_000007
homozygous
PubMed: Jespersgaar 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
125 genes associated with inherited retinal disorders, see paper supplemental data
retinal disease
152
PubMed: Jespersgaar 2019
-
?
-
Denmark
-
-
-
-
-
1
LOVD
+?/.
-
c.(?_-1)_(1144+1_1145-1)del
r.(?)
p.(?)
-
Unknown
ACMG
likely pathogenic
g.?
g.?
MERTK c.757+1G>A, p.(?) c.(?_-1) _(1144+1_1145-1)del
-
SNRNP200_000007
-
PubMed: Jespersgaar 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
125 genes associated with inherited retinal disorders, see paper supplemental data
retinal disease
155
PubMed: Jespersgaar 2019
-
?
-
Denmark
-
-
-
-
-
1
LOVD
+?/.
2i_19_
c.(482+1_483-1)_*504{0}
r.?
p.?
-
Unknown
-
likely pathogenic
g.(?_112702532)_(112786446_?)del
-
del ex3-19
-
MERTK_000196
-
PubMed: Ellingsford 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
CNV gene panel next-generation sequencing
retinal disease
15000307
PubMed: Ellingsford 2018
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
LOVD
+?/.
_1_7i
c.-122_(1144+1_1145-1){0}
r.0?
p.0?
-
Unknown
-
likely pathogenic
g.(?_112656308)_(112733054_112740418)del
-
del ex1-7
-
MERTK_000194
-
PubMed: Ellingford 2017
,
PubMed: Ellingsford 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
CNV gene panel next-generation sequencing
retinal disease
15006709
PubMed: Ellingford 2017
,
PubMed: Ellingsford 2018
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
LOVD
+?/.
_1_1i
c.-122_(61+4262_?){0}
r.0?
p.0?
-
Unknown
-
likely pathogenic
g.(?_112624327)_(112660635_?)del
g.(?_111866750)_(111903058_?)del
chr2:112624327_112660635del
-
MERTK_000190
range 59-36308 bp in various techniques, heterozygous
PubMed: Zampaglione 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I, PCRq
blood
-
retinal disease
OGI2930_004515
PubMed: Zampaglione 2020
-
?
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.0
r.0?
p.0?
-
Unknown
-
likely pathogenic
g.111408390_113315808del
g.110650813_112558231del
arr[hg19] 2q13(111408390-113315808) del
-
MERTK_000175
compound heterozygous
PubMed: Martin Merida 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I, arrayCGH
-
-
retinal disease
RP-0236
PubMed: Martin Merida 2019
-
?
-
Spain
-
-
-
-
-
1
LOVD
+/.
-
c.0
r.(?)
p.0
-
Unknown
ACMG
pathogenic
g.111371701_113132395del
g.110614124_112374818del
MERTK:NM_006343,
-
ACOXL_000006
heterozygous, individual solved, variant causal
PubMed: Rodriguez-Munoz 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
blood
-
retinal disease
RPN-442
PubMed: Rodriguez-Munoz 2020
family fRPN-197, proband
F
-
Spain
-
-
-
-
-
1
LOVD
+/.
-
c.?
r.?
p.?
-
Unknown
ACMG
pathogenic
g.?
-
NM_006343.2:c.62_3697del
-
SNRNP200_000007
-
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
+/.
1i_19i
c.?
r.?
p.?
-
Parent #1
-
pathogenic (recessive)
g.?
-
deletion ex2-19
-
SNRNP200_000007
-
PubMed: Birtel 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
Pat114
PubMed: Birtel 2018
family
F
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.?
p.?
-
Parent #2
-
likely pathogenic
g.?
-
del 13 genes incl. MERTK
-
SNRNP200_000007
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
45
PubMed: Stone 2017
1 affected
M
-
(United States)
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.(?)
-
Both (homozygous)
-
likely pathogenic
g.?
g.?
MERTK Partial deletion at 2q13 (77kb)
-
SNRNP200_000007
homozygous, partial deletion at 2q13 (77kb)
PubMed: Jauregui 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
targeted sequencing
retinal disease
86
PubMed: Jauregui 2020
-
F
-
(United States)
African American
-
-
-
-
1
LOVD
+?/.
-
c.?
r.0?
p.0?
-
Unknown
-
likely pathogenic
g.112648147_112739204del
-
chr2:g.112648147_112739204del
-
SNRNP200_000007
heterozygous
PubMed: Turro 2020
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole genome sequencing
retinal disease
G001054
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.?
r.spl
p.(?)
-
Unknown
-
likely pathogenic
g.?
g.?
MERTK Multi-exon (3-19) deletion
-
SNRNP200_000007
heterozygous
PubMed: Méjécase 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
-
retrospective case note review, targeted gene panel testing
retinal disease
55
{PMID:Méjécase 2020:3278337
-
?
-
United Arab Emirates
-
-
-
-
-
1
LOVD
+/.
1
c.3G>A
r.(?)
p.(Met1?)
-
Both (homozygous)
-
pathogenic
g.112656315G>A
g.111898738G>A
p.(Met1?)
-
MERTK_000041
-
PubMed: Jinda 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
?
PubMed: Jinda 2016
-
-
-
Thailand
-
-
-
-
-
1
Isabelle Audo
+?/.
-
c.3G>A
r.(?)
p.(Met1?)
-
Unknown
-
likely pathogenic
g.112656315G>A
-
-
-
MERTK_000041
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.20C>T
r.(?)
p.(Pro7Leu)
-
Paternal (confirmed)
-
VUS
g.112656332C>T
-
-
-
MERTK_000157
-
PubMed: Sundaramurthy 2016
-
-
Germline
no
-
-
-
-
DNA
SEQ
-
-
retinal disease
Fam03
PubMed: Sundaramurthy 2016
4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives
F
yes
India
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.35T>C
r.(?)
p.(Leu12Pro)
signal peptide
Both (homozygous)
-
pathogenic
g.112656347T>C
g.111898770T>C
-
-
MERTK_000042
Align GVGD class C0; SIFT Deleterious (score: 0.04); Mutation Taster polymorphism (p-value: 1); Polyphen2 possibly damaging with a score of 0.910
PubMed: Tada 2006
-
rs755593299
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
?
PubMed: Tada 2006
-
-
-
Japan
-
-
-
-
-
1
Isabelle Audo
-?/.
1
c.59G>C
r.(?)
p.(Arg20Thr)
signal peptide
Both (homozygous)
-
likely benign
g.112656371G>C
g.111898794G>C
-
-
MERTK_000043
considered this variant as most likely not disease causing since Arg20Ser (rs35898499) has a MAF of 0.05467 and the residue is poorly conserved; Align GVGD class C0; SIFT tolerated (score 0.38); Mutation Taster polymorphism (p value=1); Polyphen2 benign with a score of 0 (sensitivity: 1.00; specificity: 0.00) with poor conservation (polymorphic residue with a Thr present in Opossum)
PubMed: Tschernutter 2006
-
rs552509122
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
?
PubMed: Tschernutter 2006
-
-
-
Pakistan
-
-
-
-
-
1
Isabelle Audo
+/.
1
c.60del
r.(?)
p.(Ala21Leufs*43)
N-terminus
Parent #1
-
pathogenic
g.112656372del
g.111898795del
-
-
MERTK_000044
putative compound hetetorzygous
PubMed: Audo 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
?
PubMed: Audo 2018
-
-
-
France
-
-
-
-
-
1
Isabelle Audo
+/.
1i
c.61+1G>A
r.spl
p.?
N-terminus
Parent #1
-
pathogenic
g.112656374G>A
g.111898797G>A
-
-
MERTK_000045
-
PubMed: Mackay 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RD
?
PubMed: Mackay 2010
-
M
no
-
white
-
-
-
-
1
Isabelle Audo
-?/.
-
c.61+3G>C
r.spl?
p.?
-
Unknown
-
likely benign
g.112656376G>C
g.111898799G>C
MERTK(NM_006343.2):c.61+3G>C
-
MERTK_000006
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.61+3G>C
r.spl?
p.?
-
Unknown
-
VUS
g.112656376G>C
g.111898799G>C
-
-
MERTK_000006
-
PubMed: Costa 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
132-gene panel
retinal disease
Pat15
PubMed: Costa 2017
-
M
-
Brazil
-
-
-
-
-
1
LOVD
+/.
1i
c.62-1G>A
r.spl
p.?
N-terminus
Parent #1
-
pathogenic
g.112686696G>A
g.111929119G>A
-
-
MERTK_000046
-
PubMed: Wang 2014b
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
20
PubMed: Wang 2014b
-
M
-
United States
-
-
-
-
-
1
Isabelle Audo
+?/.
-
c.(61+1_62-1)_(482+1_483-1)dup
r.(?)
p.(?)
-
Unknown
ACMG
likely pathogenic
g.?
g.?
MERTK c.(61+1_62-1)_(482+1_483-1)dup
-
SNRNP200_000007
single heterozygous variant (recessive)
PubMed: Jespersgaar 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
125 genes associated with inherited retinal disorders, see paper supplemental data
retinal disease
424
PubMed: Jespersgaar 2019
-
?
-
Denmark
-
-
-
-
-
1
LOVD
+?/.
_2_19_,2
c.(61+1_62-1)_(*504_?)del
r.(?)
p.(?)
-
Unknown
-
likely pathogenic
g.?
g.?
MERTK Deletion of exons 2-19, c.369C>G, p.Tyr123*
-
SNRNP200_000007
heterozygous
PubMed: Gliem 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole exome sequencing
retinal disease
136
PubMed: Gliem 2020
-
F
-
(Germany)
-
-
-
-
-
1
LOVD
+/.
2
c.79G>T
r.(?)
p.(Glu27*)
-
Paternal (confirmed)
ACMG
pathogenic
g.112686714G>T
g.111929137G>T
-
-
MERTK_000164
-
Tracewska 2021, MolVis in press
-
-
Germline
yes
0 (in-house database, ~5000 samples)
-
-
-
DNA
SEQ-NG-I, SEQ
blood
targeted resequencing using MIPs library prep, 108-gene panel
retinal disease
307
Tracewska 2021, MolVis in press
proband
M
no
Poland
Slavic
-
-
yes
-
2
LOVD
+/.
2
c.79G>T
r.(?)
p.(Glu27*)
-
Paternal (confirmed)
ACMG
pathogenic
g.112686714G>T
g.111929137G>T
-
-
MERTK_000164
-
Tracewska 2021, MolVis in press
-
-
Germline
yes
0 (in-house database, ~5000 samples)
-
-
-
DNA
SEQ
buccal cells
targeted resequencing using MIPs library prep, 108-gene panel
retinal disease
549
Tracewska 2021, MolVis in press
brother
M
no
Poland
Slavic
-
-
yes
-
1
LOVD
+/.
2
c.92_98del
r.(?)
p.(Pro31Argfs*31)
-
Both (homozygous)
-
pathogenic (recessive)
g.112686727_112686733del
g.111929150_111929156del
91_97del
-
MERTK_000003
-
PubMed: Wang 2014a
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
RP
-
PubMed: Wang 2014a
-
-
-
(United States)
-
-
-
-
-
1
Feng Wang
?/.
-
c.98C>T
r.(?)
p.(Pro33Leu)
-
Both (homozygous)
ACMG
VUS
g.112686733C>T
-
-
-
MERTK_000143
-
PubMed: Al-Bdour 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
retinal disease
Fam3
PubMed: Al-Bdour 2020
5-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives
F;M
yes
Jordan
-
-
-
-
-
3
Johan den Dunnen
+/.
-
c.98del
r.(?)
p.(Pro33Argfs*31)
-
Unknown
-
pathogenic
g.112686733del
g.111929156del
c.98del, p.(Pro33Argfs*31)
-
MERTK_000176
compound heterozygous
PubMed: Wang 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
panel of 126 genes
retinal disease
13658
PubMed: Wang 2019
-
F
-
China
-
-
-
-
-
1
LOVD
-?/.
-
c.102A>G
r.(?)
p.(Leu34=)
-
Unknown
-
likely benign
g.112686737A>G
g.111929160A>G
MERTK(NM_006343.2):c.102A>G (p.L34=), MERTK(NM_006343.3):c.102A>G (p.L34=)
-
MERTK_000007
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.102A>G
r.(?)
p.(Leu34=)
-
Unknown
-
benign
g.112686737A>G
g.111929160A>G
MERTK(NM_006343.2):c.102A>G (p.L34=), MERTK(NM_006343.3):c.102A>G (p.L34=)
-
MERTK_000007
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.107C>T
r.(?)
p.(Pro36Leu)
-
Unknown
-
likely benign
g.112686742C>T
g.111929165C>T
MERTK(NM_006343.2):c.107C>T (p.P36L), MERTK(NM_006343.3):c.107C>T (p.P36L)
-
MERTK_000008
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.107C>T
r.(?)
p.(Pro36Leu)
-
Unknown
-
likely benign
g.112686742C>T
-
MERTK(NM_006343.2):c.107C>T (p.P36L), MERTK(NM_006343.3):c.107C>T (p.P36L)
-
MERTK_000008
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.224del
r.(?)
p.(Thr75Lysfs*4)
-
Both (homozygous)
-
pathogenic
g.112686859del
g.111929282del
-
-
MERTK_000106
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
rs527236083
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
+/.
2
c.225del
r.(?)
p.(Gly76Glufs*3)
N-terminus fragment
Parent #1
-
pathogenic
g.112686860del
g.111929283del
-
-
MERTK_000047
-
PubMed: Oishi 2014
-
rs527236083
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
K6484
PubMed: Oishi 2014
-
-
-
Japan
-
-
-
-
-
1
Isabelle Audo
+/.
-
c.225del
r.(?)
p.(Gly76GlufsTer3)
-
Both (homozygous)
-
pathogenic
g.112686860del
g.111929283del
225delA
-
MERTK_000047
-
PubMed: Oishi 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
193-gene panel
retinal disease
K6151
PubMed: Oishi 2014
family
-
-
Japan
-
-
-
-
-
1
LOVD
+/.
-
c.225del
r.(?)
p.(Gly76GlufsTer3)
-
Parent #1
-
pathogenic
g.112686860del
g.111929283del
225delA
-
MERTK_000047
-
PubMed: Oishi 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
193-gene panel
retinal disease
K6488
PubMed: Oishi 2014
simplex case
-
-
Japan
-
-
-
-
-
1
LOVD
+?/.
4
c.225del
r.(?)
p.(Pro76Glnfs*3)
-
Unknown
-
likely pathogenic (recessive)
g.112686860del
-
c.225delA
-
MERTK_000047
-
PubMed: Liu-2020
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
hereditary eye disease enrichment panel (HEDEP)
retinal disease
-
PubMed: Liu-2020
-
M
-
-
-
-
-
-
-
1
LOVD
+?/.
2
c.225delA
r.(?)
p.(Gly76Glufs*3)
-
Both (homozygous)
ACMG
likely pathogenic
g.111929283del
g.111929283del
MERTK c.225delA, p.Thr75Thrfs4, homozygous
-
MERTK_000191
error in annotation: c.225delA causes p.(Gly76GlufsTer3), and not p.(Thr75Thrfs4)
PubMed: Sun 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome
retinal disease
12
PubMed: Sun 2020
-
M
-
China
-
-
-
-
-
1
LOVD
-?/.
-
c.231C>T
r.(?)
p.(Asn77=)
-
Unknown
-
likely benign
g.112686866C>T
-
MERTK(NM_006343.3):c.231C>T (p.N77=)
-
MERTK_000172
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
5
c.263C>T
r.(?)
p.(Ala88Val)
-
Unknown
-
likely pathogenic
g.112686898C>T
-
c.263C>T p.(Ser88Leu)
-
MERTK_000195
-
PubMed: Ellingsford 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
CNV gene panel next-generation sequencing
retinal disease
15000307
PubMed: Ellingsford 2018
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
LOVD
+?/.
5
c.263C>T
r.(?)
p.(Ala88Val)
-
Unknown
-
likely pathogenic
g.112686898C>T
-
c.263C>T p.(Ser88Leu)
-
MERTK_000195
-
PubMed: Ellingsford 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
CNV gene panel next-generation sequencing
retinal disease
15006709
PubMed: Ellingford 2017
,
PubMed: Ellingsford 2018
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
LOVD
-?/.
-
c.276G>A
r.(?)
p.(Pro92=)
-
Unknown
-
likely benign
g.112686911G>A
-
MERTK(NM_006343.2):c.276G>A (p.P92=)
-
MERTK_000214
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.296_297del
r.(?)
p.(Thr99Serfs*8)
-
Both (homozygous)
-
likely pathogenic
g.112686931_112686932del
g.111929354_111929355del
296_297delCA
-
MERTK_000154
-
PubMed: Huang 2017
-
-
Unknown
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
RP-010
PubMed: Huang 2017
patient
-
-
China
-
-
-
-
-
1
LOVD
+?/.
-
c.296_297del
r.(?)
p.(Thr99Serfs*8)
-
Both (homozygous)
-
likely pathogenic
g.112686931_112686932del
g.111929354_111929355del
c.291_292delAC
-
MERTK_000154
-
PubMed: Huang 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
283-gene panel
retinal disease
RP022
PubMed: Huang 2018
-
-
-
-
-
-
-
-
-
1
LOVD
+/.
2
c.296_297del
r.(?)
p.(Thr99Serfs*8)
-
Both (homozygous)
ACMG
pathogenic
g.112686931_112686932del
g.111929354_111929355del
NM_006343.2:c.296_297del, NP_006334.2:p.(Thr99SerfsTer8), NC_000002.11:g.112686931_112686932del
-
MERTK_000154
-
PubMed: Wang 2018
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
-
panel of 441 hereditary eye disease genes including 291 genes related to IRD
retinal disease
2016120508
PubMed: Wang 2018
-
M
?
China
Han Chinese
-
-
-
-
1
LOVD
+?/.
5
c.296_297del
r.(?)
p.(Val100Alafs*13)
-
Both (homozygous)
-
likely pathogenic (recessive)
g.112686931_112686932del
-
c.296_297delCA
-
MERTK_000154
-
PubMed: Liu-2020
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
hereditary eye disease enrichment panel (HEDEP)
retinal disease
-
PubMed: Liu-2020
-
F
-
-
-
-
-
-
-
1
LOVD
+?/.
5
c.296_297del
r.(?)
p.(Val100Alafs*13)
-
Both (homozygous)
-
likely pathogenic (recessive)
g.112686931_112686932del
-
c.296_297delCA
-
MERTK_000154
-
PubMed: Liu-2020
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
hereditary eye disease enrichment panel (HEDEP)
retinal disease
-
PubMed: Liu-2020
-
M
-
-
-
-
-
-
-
1
LOVD
+?/.
5
c.296_297del
r.(?)
p.(Val100Alafs*13)
-
Unknown
-
likely pathogenic (recessive)
g.112686931_112686932del
-
c.291_292delAC
-
MERTK_000154
-
PubMed: Liu-2020
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
hereditary eye disease enrichment panel (HEDEP)
retinal disease
-
PubMed: Liu-2020
-
M
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.296_297del
r.(?)
p.(Thr99Serfs*8)
-
Unknown
ACMG
pathogenic
g.112686931_112686932del
g.111929354_111929355del
MERTK c.296_297del(;)499C>G, V1: c.296_297delCA, (p.Thr99SerfsTer8)
-
MERTK_000154
alleles in cis or trans; heterozygous
PubMed: Chen 2021
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
212 inherited retinal disease-related genes
retinal disease
F070
PubMed: Chen 2021
-
?
-
Taiwan
-
-
-
-
-
1
LOVD
+/.
-
c.296_297del
r.(?)
p.(Thr99Serfs*8)
-
Unknown
ACMG
pathogenic
g.112686931_112686932del
g.111929354_111929355del
MERTK c.296_297del(;)1988_1989insAT, V2: c.296_297delCA, (p.Thr99SerfsTer8)
-
MERTK_000154
alleles in cis or trans; heterozygous
PubMed: Chen 2021
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
212 inherited retinal disease-related genes
retinal disease
F285
PubMed: Chen 2021
-
?
-
Taiwan
-
-
-
-
-
1
LOVD
+/.
-
c.296_297delCA
r.(?)
p.(Thr99SerfsTer8)
-
Unknown
-
pathogenic
g.112686931_112686932del
g.111929354_111929355del
MERTK c.296_297del(;)499C>G; p.(Thr99SerfsTer8)
-
MERTK_000154
heterozygous
PubMed: Chen 2021
-
-
Germline/De novo (untested)
?
Taiwan Biobank: delAC:0.000330; GnomAD_exome_East: 0.000109; GnomAD_All: 0.0000119
-
-
-
DNA
SEQ-NG
-
targeted 212 IRD-related genes
retinal disease
F070
PubMed: Chen 2021
-
-
-
Taiwan
-
-
-
-
-
1
LOVD
+/.
-
c.296_297delCA
r.(?)
p.(Thr99SerfsTer8)
-
Unknown
-
pathogenic
g.112686931_112686932del
g.111929354_111929355del
MERTK c.296_297del(;)1988_1989insAT; p.(Thr99SerfsTer8)
-
MERTK_000154
heterozygous
PubMed: Chen 2021
-
-
Germline/De novo (untested)
?
Taiwan Biobank: 0.000330; GnomAD_exome_East: 0.000109; GnomAD_All: 0.0000119
-
-
-
DNA
SEQ-NG
-
targeted 212 IRD-related genes
retinal disease
F285
PubMed: Chen 2021
-
-
-
Taiwan
-
-
-
-
-
1
LOVD
+/.
2
c.308_309del
r.(?)
p.(Ile103Asnfs*4)
Ig-like C2 type I
Both (homozygous)
-
pathogenic
g.112686943_112686944del
g.111929366_111929367del
-
-
MERTK_000048
-
PubMed: Yang 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
?
PubMed: Yang 2018
-
-
-
China
-
-
-
-
-
1
Isabelle Audo
+/.
2
c.325A>T
r.(?)
p.(Lys109*)
Ig-like C2 type I
Both (homozygous)
-
pathogenic
g.112686960A>T
g.111929383A>T
-
-
MERTK_000049
-
PubMed: Patel 2016
-
rs786205533
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
12DG0949
PubMed: Patel 2016
-
-
-
Saudi Arabia
-
-
-
-
-
1
Isabelle Audo
+/.
2
c.343T>G
r.(?)
p.(Cys115Gly)
Ig-like C2 type I
Parent #1
-
pathogenic
g.112686978T>G
g.111929401T>G
-
-
MERTK_000050
no variant found 2nd chromosome;A lign GVGD class C65; SIFT deleterious (score 0); Mutation Taster disease causing (p value=1); Polyphen2 probably damaging with a score of 1 (sensitivity: 0.00; specificity: 1.00) and conserved residue
PubMed: Tada 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
?
PubMed: Tada 2006
-
-
-
Japan
-
-
-
-
-
1
Isabelle Audo
+/.
-
c.343T>G
r.(?)
p.(Cys115Gly)
-
Unknown
-
pathogenic
g.112686978T>G
g.111929401T>G
-
-
MERTK_000050
-
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
?/.
6
c.343T>G
r.(?)
p.(Cys115Gly)
-
Parent #1
-
VUS
g.112686978T>G
-
c.343T>G
-
MERTK_000050
-
PubMed: Panneman 2023
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
RP-LCA smMIPs sequencing
RP
-
PubMed: Panneman 2023
-
F
-
-
-
-
-
-
-
1
Daan Panneman
?/.
2
c.345C>G
r.(?)
p.(Cys115Trp)
Ig-like C2 type I
Parent #2
-
VUS
g.112686980C>G
g.111929403C>G
-
-
MERTK_000051
-
PubMed: Wang 2014b
-
rs772421550
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
21
PubMed: Wang 2014b
-
F
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
2
c.345C>G
r.(?)
p.(Cys115Trp)
Ig-like C2 type I
Parent #2
-
pathogenic
g.112686980C>G
g.111929403C>G
-
-
MERTK_000051
Align GVGD class C65; SIFT deleterious (score 0); Mutation Taster disease causing (p value=1); Polyphen2 probably damaging with a score of 1 (sensitivity: 0.00; specificity: 1.00) and conserved residue
Khan 2018
-
rs772421550
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
?
Khan 2017
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
2
Isabelle Audo
+/.
2
c.345C>G
r.(?)
p.(Cys115Trp)
Ig-like C2 type I
Parent #2
-
pathogenic
g.112686980C>G
g.111929403C>G
-
-
MERTK_000051
Align GVGD class C65; SIFT deleterious (score 0); Mutation Taster disease causing (p value=1); Polyphen2 probably damaging with a score of 1 (sensitivity: 0.00; specificity: 1.00) and conserved residue
PubMed: Eisenberger 2013
-
rs772421550
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
?
PubMed: Eisenberger 2013
-
-
-
Germany
-
-
-
-
-
1
Isabelle Audo
+/.
2
c.345C>G
r.(?)
p.(Cys115Trp)
Ig-like C2 type I
Parent #2
-
pathogenic
g.112686980C>G
g.111929403C>G
-
-
MERTK_000051
putative compound hetetorzygous;A lign GVGD class C65; SIFT deleterious (score 0); Mutation Taster disease causing (p value=1); Polyphen2 probably damaging with a score of 1 (sensitivity: 0.00; specificity: 1.00) and conserved residue
PubMed: Audo 2018
-
rs772421550
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
?
PubMed: Audo 2018
-
-
-
France
-
-
-
-
-
1
Isabelle Audo
+?/.
-
c.345C>G
r.(?)
p.(Cys115Trp)
-
Unknown
-
likely pathogenic
g.112686980C>G
g.111929403C>G
MERTK(NM_006343.3):c.345C>G (p.C115W)
-
MERTK_000051
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.345C>G
r.(?)
p.(Cys115Trp)
-
Parent #1
-
pathogenic (recessive)
g.112686980C>G
g.111929403C>G
-
-
MERTK_000051
-
PubMed: Avela 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
Pat31
PubMed: Avela 2018
-
-
-
Finland
-
-
-
-
-
1
LOVD
+?/.
-
c.345C>G
r.(?)
p.(Cys115Trp)
-
Both (homozygous)
-
likely pathogenic
g.112686980C>G
g.111929403C>G
-
-
MERTK_000051
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
44
PubMed: Stone 2017
1 affected
F
-
(United States)
-
-
-
-
-
1
LOVD
+/.
-
c.345C>G
r.(?)
p.(Cys115Trp)
-
Parent #1
-
pathogenic
g.112686980C>G
g.111929403C>G
-
-
MERTK_000051
-
PubMed: Khan 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
105-gene panel
retinal disease
3259
PubMed: Khan 2017
see paper
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
LOVD
+?/.
2
c.345C>G
r.(?)
p.(Cys115Trp)
-
Unknown
ACMG
likely pathogenic
g.112686980C>G
g.111929403C>G
-
-
MERTK_000051
-
Tracewska 2021, MolVis in press
-
-
Germline
-
0 (in-house database, ~5000 samples)
-
-
-
DNA
SEQ-NG-I, SEQ
blood
targeted resequencing using MIPs library prep, 108-gene panel
retinal disease
261
Tracewska 2021, MolVis in press
proband
M
no
Poland
Slavic
-
-
yes
-
1
LOVD
+?/.
2
c.345C>G
r.(?)
p.(Cys115Trp)
-
Maternal (confirmed)
ACMG
likely pathogenic
g.112686980C>G
g.111929403C>G
-
-
MERTK_000051
-
Tracewska 2021, MolVis in press
-
-
Germline
yes
0 (in-house database, ~5000 samples)
-
-
-
DNA
SEQ-NG-I, SEQ
blood
targeted resequencing using MIPs library prep, 108-gene panel
retinal disease
307
Tracewska 2021, MolVis in press
proband
M
no
Poland
Slavic
-
-
yes
-
2
LOVD
+?/.
2
c.345C>G
r.(?)
p.(Cys115Trp)
-
Maternal (confirmed)
ACMG
likely pathogenic
g.112686980C>G
g.111929403C>G
-
-
MERTK_000051
-
Tracewska 2021, MolVis in press
-
-
Germline
yes
0 (in-house database, ~5000 samples)
-
-
-
DNA
SEQ
buccal cells
targeted resequencing using MIPs library prep, 108-gene panel
retinal disease
549
Tracewska 2021, MolVis in press
brother
M
no
Poland
Slavic
-
-
yes
-
1
LOVD
+/.
6
c.345C>G
r.(?)
p.(Ser115Arg)
-
Unknown
-
pathogenic
g.112686980C>G
-
c.345C>G
-
MERTK_000051
-
PubMed: Eisenberger-2013
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I, SEQ-NG-R, SEQ
blood
-
retinal disease
-
PubMed: Eisenberger-2013
-
M
no
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.345C>G
r.(?)
p.(Cys115Trp)
-
Both (homozygous)
ACMG
likely pathogenic
g.112686980C>G
g.111929403C>G
MERTK c.345C>G, p.(Cys115Trp), c.345C>G, p.(Cys115Trp)
-
MERTK_000051
homozygous
PubMed: Jespersgaar 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
125 genes associated with inherited retinal disorders, see paper supplemental data
retinal disease
151
PubMed: Jespersgaar 2019
-
?
-
Denmark
-
-
-
-
-
1
LOVD
+/.
-
c.346_349delTCAA
r.(?)
p.(Ile117Valfs*39)
-
Parent #2
ACMG
pathogenic
g.112686984_112686987del
g.111929407_111929410del
MERTK NM_006343: g.30926_30929delTCAA, c.346_349delTCAA, p.I117Vfs39
-
MERTK_000179
-
PubMed: Xu 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
-
targeted next-generation sequencing/Sanger sequencing
retinal disease
19312
PubMed: Xu 2020
-
?
no
China
-
-
-
-
-
1
LOVD
-/.
-
c.353G>A
r.(?)
p.(Ser118Asn)
-
Unknown
-
benign
g.112686988G>A
g.111929411G>A
MERTK(NM_006343.3):c.353G>A (p.S118N)
-
MERTK_000009
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.353G>A
r.(?)
p.(Ser118Asn)
-
Unknown
-
benign
g.112686988G>A
g.111929411G>A
-
-
MERTK_000009
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
rs13027171
Germline
-
229/1204 cases with retinitis pigmentosa
-
-
-
DNA
SEQ-NG
-
-
retinal disease
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
229
Yoshito Koyanagi
-/.
-
c.353G>A
r.(?)
p.(Ser118Asn)
-
Both (homozygous)
-
benign
g.112686988G>A
g.111929411G>A
-
-
MERTK_000009
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
rs13027171
Germline
-
16/1204 cases with retinitis pigmentosa
-
-
-
DNA
SEQ-NG
-
-
retinal disease
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
16
Yoshito Koyanagi
+/.
2
c.369C>G
r.(?)
p.(Tyr123*)
-
Parent #2
-
pathogenic (recessive)
g.112687004C>G
g.111929427C>G
-
-
MERTK_000146
-
PubMed: Birtel 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
Pat114
PubMed: Birtel 2018
family
F
-
Germany
-
-
-
-
-
1
LOVD
+?/.
2
c.369C>G
r.(?)
p.(Tyr123*)
-
Unknown
-
likely pathogenic
g.112687004C>G
g.111929427C>G
MERTK Deletion of exons 2-19 c.369C>G, p.? p.Tyr123*
-
MERTK_000146
hemizygous (apparent homozygosity because of lack of second sequence on the other allele
PubMed: Gliem 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole exome sequencing
retinal disease
136
PubMed: Gliem 2020
-
F
-
(Germany)
-
-
-
-
-
1
LOVD
+/.
2
c.370C>T
r.(?)
p.(Gln124*)
Ig-like C2 type I
Parent #2
-
pathogenic
g.112687005C>T
g.111929428C>T
-
-
MERTK_000052
-
PubMed: Oishi 2014
-
rs527236134
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
K6484
PubMed: Oishi 2014
-
-
-
Japan
-
-
-
-
-
1
Isabelle Audo
+/.
2
c.390G>A
r.(?)
p.(Trp130*)
-
Both (homozygous)
-
pathogenic (recessive)
g.112687025G>A
g.111929448G>A
-
-
MERTK_000002
-
PubMed: Wang 2014a
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
RP
-
PubMed: Wang 2014a
-
-
-
(United States)
-
-
-
-
-
1
Feng Wang
+/.
2
c.390G>A
r.(?)
p.(Trp130*)
Ig-like C2 type I
Parent #1
-
pathogenic
g.112687025G>A
g.111929448G>A
-
-
MERTK_000002
-
PubMed: Ge 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
5VR+W.92
PubMed: Ge 2015
simplex case
-
-
United States
America-N
-
-
-
-
1
Isabelle Audo
+?/.
2
c.390G>A
r.(?)
p.(Trp130*)
-
Both (homozygous)
-
likely pathogenic
g.112687025G>A
g.111929448G>A
c.390G>A, p.(Trp130*)
-
MERTK_000002
Homozygous
PubMed: Tayebi 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
blood
108-gene panel targeted resequencing using MIPs library prep
retinal disease
066882
PubMed: Tayebi 2019
-
-
-
Iran
-
-
-
-
-
1
LOVD
?/.
-
c.390G>A
r.(?)
p.(Trp130*)
-
Unknown
-
VUS
g.112687025G>A
g.111929448G>A
MERTK nucleotide 1, protein 1:c.390G>A, p.Trp130* nucleotide 2, protein 2:c.1605-2A>G, p.?
-
MERTK_000002
heterozygous, ACMG unclassified - no access to supplementary table 2
PubMed: Hull 2020
-
-
Germline
?
-
-
-
-
DNA
?
blood
NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families
retinal disease
75
PubMed: Hull 2020
-
?
-
New Zealand
white
-
-
-
-
1
LOVD
+/.
6
c.392G>A
r.(?)
p.(Gly131Asp)
-
Both (homozygous)
-
pathogenic
g.112687027G>A
-
c.392G>A
-
MERTK_000200
-
PubMed: Salmaninejad-202
-
-
Unknown
-
-
-
-
-
DNA
SEQ-NG, arraySNP, PCR, SEQ
blood
WES
retinal disease
-
PubMed: Salmaninejad-202
-
-
yes
-
Iranian
-
-
-
-
1
LOVD
+?/.
6
c.392G>A
r.(?)
p.(Trp131*)
-
Both (homozygous)
-
likely pathogenic
g.112687027G>A
-
c.392G>A
-
MERTK_000200
-
PubMed: Liu 2018
-
-
De novo
-
-
-
-
-
DNA
SEQ-NG, SEQ, PCR
-
-
retinal disease
-
PubMed: Liu 2018
novel
M
no
-
Chinese
-
-
-
-
1
LOVD
?/.
-
c.436C>G
r.(?)
p.(Gln146Glu)
-
Unknown
ACMG
VUS
g.112687071C>G
g.111929494C>G
MERTK:NM_006343 c.C436G, p.Q146E
-
MERTK_000189
heterozygous, individual unsolved, causality of variants unknown
PubMed: Rodriguez-Munoz 2020
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
-
retinal disease
RPN-179
PubMed: Rodriguez-Munoz 2020
-
?
-
Spain
-
-
-
-
-
1
LOVD
+?/.
-
c.436C>T
r.(?)
p.(Gln146Ter)
-
Both (homozygous)
ACMG
likely pathogenic (recessive)
g.112687071C>T
g.111929494C>T
-
-
MERTK_000224
ACMG PVS1, PM2
PubMed: Basharat 2024
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
smMIPs
?
FamGPatIV2
PubMed: Basharat 2024
5-generation family, 6 affected (2F, 4M)
M
yes
Pakistan
-
-
-
-
-
6
Rabia Basharat
+?/.
-
c.436C>T
r.(?)
p.(Gln146Ter)
-
Both (homozygous)
ACMG
likely pathogenic (recessive)
g.112687071C>T
g.111929494C>T
-
-
MERTK_000224
ACMG PVS1, PM2
PubMed: Basharat 2024
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
smMIPs
?
FamGPatIV3
PubMed: Basharat 2024
brother
M
yes
Pakistan
-
-
-
-
-
1
Rabia Basharat
+?/.
-
c.436C>T
r.(?)
p.(Gln146Ter)
-
Both (homozygous)
ACMG
likely pathogenic (recessive)
g.112687071C>T
g.111929494C>T
-
-
MERTK_000224
ACMG PVS1, PM2
PubMed: Basharat 2024
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
smMIPs
?
FamGPatIV4
PubMed: Basharat 2024
brother
M
yes
Pakistan
-
-
-
-
-
1
Rabia Basharat
+?/.
-
c.436C>T
r.(?)
p.(Gln146Ter)
-
Both (homozygous)
ACMG
likely pathogenic (recessive)
g.112687071C>T
g.111929494C>T
-
-
MERTK_000224
ACMG PVS1, PM2
PubMed: Basharat 2024
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
smMIPs
?
FamGPatIV6
PubMed: Basharat 2024
sister
F
yes
Pakistan
-
-
-
-
-
1
Rabia Basharat
+?/.
-
c.436C>T
r.(?)
p.(Gln146Ter)
-
Both (homozygous)
ACMG
likely pathogenic (recessive)
g.112687071C>T
g.111929494C>T
-
-
MERTK_000224
ACMG PVS1, PM2
PubMed: Basharat 2024
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
smMIPs
?
FamGPatV4
PubMed: Basharat 2024
relative
M
yes
Pakistan
-
-
-
-
-
1
Rabia Basharat
+?/.
-
c.436_437del
r.(?)
p.(Gln146Valfs*5)
-
Parent #2
-
likely pathogenic
g.112687071_112687072del
g.111929494_111929495del
433_434delAC
-
MERTK_000155
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
819
PubMed: Stone 2017
1 affected
F
-
(United States)
-
-
-
-
-
1
LOVD
+?/.
-
c.436_437del
r.(?)
p.(Gln146Valfs*5)
-
Unknown
-
likely pathogenic
g.112687071_112687072del
g.111929494_111929495del
c.436_437delCA
-
MERTK_000155
-
PubMed: Hariri 2018
-
-
Germline
?
-
-
-
-
DNA
SEQ
-
retrospective analysis
retinal disease
-
PubMed: Hariri 2018
-
?
-
-
-
-
-
-
-
1
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