Global Variome shared LOVD
ABCA4 (ATP-binding cassette, sub-family A (ABC1), m...)
LOVD v.3.0 Build 30b [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Stéphanie Cornelis
View all genes
View ABCA4 gene homepage
View graphs about the ABCA4 gene database
Create a new gene entry
View all transcripts
View all transcripts of gene ABCA4
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene ABCA4
View all variants in gene ABCA4
Full data view for gene ABCA4
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 ABCA4
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene ABCA4
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene ABCA4
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
Full data view for gene ABCA4
The
expert classification
of the variants can be found
here
.
To other Inherited Retinal Disease gene variant database:
ABCA4
ABCC6
ABHD12
ACBD5
ADAM9
ADAMTS18
ADIPOR1
AGBL5
AHI1
AIPL1
ALMS1
ARHGEF18
ARL2BP
ARL3
ARL6
ARMS2
ASRGL1
ATF6
ATP6
ATXN7
BBIP1
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
BEST1
C12orf65
C1QTNF5
C2
C21orf2
C2orf71
C3
C8orf37
CA4
CABP4
CACNA1F
CACNA2D4
CAPN5
CC2D2A
CCT2
CDH23
CDH3
CDHR1
CEP164
CEP250
CEP290
CEP78
CERKL
CFB
CFH
CHM
CIB2
CLN3
CLRN1
CLUAP1
CNGA1
CNGA3
CNGB1
CNGB3
CNNM4
COL11A1
COL2A1
COL9A1
CRB1
CRX
CSPP1
CTNNA1
CYP4V2
DFNB31
DHDDS
DHX38
DMD
DRAM2
DTHD1
EFEMP1
ELOVL4
EMC1
ERCC6
EXOC2
EXOSC2
EYS
FAM161A
FBLN5
FLVCR1
FSCN2
FZD4
GBN3
GDF6
GNAT1
GNAT2
GNPTG
GPR125
GPR179
GPR98
GRK1
GRM6
GUCA1A
GUCA1B
GUCY2D
HARS
HGSNAT
HK1
HMCN1
HMX1
HTRA1
IDH3B
IFT140
IFT172
IFT27
IFT81
IMPDH1
IMPG1
IMPG2
INPP5E
INVS
IQCB1
ITM2B
JAG1
KCNJ13
KCNV2
KIAA1549
KIF11
KIZ
KLHL7
KSS
LAMA1
LCA5
LHON
LRAT
LRIT3
LRP5
LZTFL1
MAK
MAPKAPK3
MERTK
MFN2
MFRP
MFSD8
MIR204
MKKS
MKS1
MTTP
MVK
MYO7A
NBAS
NDP
NEK2
NEUROD1
NMNAT1
NPHP1
NPHP3
NPHP4
NR2E3
NR2F1
NRL
NYX
OAT
OFD1
OPA1
OPA3
OPN1LW
OPN1MW
OPN1SW
OR2W3
OTX2
PANK2
PAX2
PCDH15
PCYT1A
PDE6A
PDE6B
PDE6C
PDE6G
PDE6H
PDZD7
PEX1
PEX2
PEX7
PGK1
PHYH
PITPNM3
PLA2G5
PLK4
PNPLA6
POC1B
PRCD
PRDM13
PROM1
PRPF3
PRPF31
PRPF4
PRPF6
PRPF8
PRPH2
RAB28
RAX2
RB1
RBP3
RBP4
RCBTB1
RD3
RDH11
RDH12
RDH5
REEP6
RGR
RGS9
RGS9BP
RHO
RIMS1
RLBP1
ROM1
RP1
RP1L1
RP2
RP9
RPE65
RPGR
RPGRIP1
RPGRIP1L
RS1
RTN4IP1
SAG
SDCCAG8
SEMA4A
SLC24A1
SLC25A46
SLC7A14
SNRNP200
SPATA7
SPP2
TEAD1
TH
TIMM8A
TIMP3
TL1
TLR3
TLR4
TMEM126A
TMEM237
TOPORS
TP
TREX1
TRIM32
TRNT1
TRPM1
TS2
TSPAN12
TTC8
TTLL5
TTPA
TUB
TUBGCP4
TULP1
UNC119
USH1C
USH1G
USH2A
VCAN
WDPCP
WDR19
WFS1
ZNF408
ZNF423
ZNF513
The variants shown are described using the NM_000350.2 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
conflicting
association
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arrayMET = array for methylation analysis
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = single molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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.
36102 entries on 362 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
3
4
5
6
7
8
9
10
11
...
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
?/.
17i_50
c.(2653+1_2654-1)_(*1_?)del
r.?
p.?
Unknown
ACMG
VUS
g.(?_94458792)_(94514514_94517188)del
g.(?_93993236)_(94048958_94051632)del
-
-
ABCA4_002890
ACMG PVS1_S, PM2_sup; severity category not assesed
Journal: Cornelis 2023
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
22i_50_
c.(3328+1_3523-1)_*400{0}
r.?
p.?
Unknown
-
VUS
g.(?_94458393)_(94505684_94508316)del
g.(?_93992837)_(94040128_94042760)del
-
-
ABCA4_002595
-
PubMed: Cornelis 2024
,
Journal: Cornelis 2024
-
-
Unknown
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
L-0512
PubMed: Cornelis 2024
,
Journal: Cornelis 2024
-
M
-
France
-
-
-
-
-
1
Frans Cremers
+?/.
48i_50_
c.(6729+1_6730-1)_(*1_?)del
r.?
p.?
Unknown
ACMG
likely pathogenic
g.(?_94458792)_(94461752_94463416)del
g.(?_93993236)_(93996196_93997860)del
-
-
NPHS2_000000
ACMG PVS1_S, PM2_sup, PM3_sup; severity category severe
Journal: Cornelis 2023
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
49i_50_
c.(6816+1_6817-1)_(*1_?)del
r.?
p.?
Unknown
ACMG
VUS
g.(?_94458792)_(94458799_94461664)del
g.(?_93993236)_(93993243_93996108)del
-
-
ABCA4_002889
ACMG PVS1_S, PM2_sup; severity category not assesed
Journal: Cornelis 2023
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
44
c.*10C>A
r.(?)
p.?
Unknown
ACMG
VUS
g.94458783G>T
g.93993227G>T
-
-
ABCA4_000874
ACMG PM3, PP3_m; severity category mild/moderate
Journal: Cornelis 2023
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
5
c.*55G>A
r.(?)
p.?
Unknown
ACMG
VUS
g.94458738C>T
g.93993182C>T
-
-
ABCA4_001553
ACMG PM2_sup, PM3_sup, PP3_m; severity category benign
Journal: Cornelis 2023
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
_1_1i
c.-104_(66+1_67-1){0}
r.0?
p.0?
Parent #1
-
VUS
g.(94578623_94586535)_(94586602_?)del
g.(94113067_94120979)_(94121046_?)del
-
-
ABCA4_002758
-
PubMed: Cornelis 2024
,
Journal: Cornelis 2024
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
L-0506
PubMed: Cornelis 2024
,
Journal: Cornelis 2024
-
F
-
France
-
-
-
-
-
1
Frans Cremers
+?/.
1_40i
c.-104_5714+250{0}
r.0?
p.0?
Unknown
ACMG
likely pathogenic
g.94476106_94586955del
g.94010550_94121399del
c.-354_5714+250del
-
ABCA4_002291
ACMG PVS1, PM2_sup; severity category not assesed
Journal: Cornelis 2023
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
24_50
c.3525_*400{0}
r.?
p.?
Unknown
ACMG
likely pathogenic
g.94402743_94505682del
g.93937187_94040126del
c.3524_*56050del
-
ABCA4_002888
ACMG PVS1, PM2_sup; severity category not assesed
Journal: Cornelis 2023
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
39i
c.5585-164_*400{0}
r.(?)
p.(?)
Unknown
-
pathogenic (recessive)
g.94457537_94476649del
g.93991981_94011093del
[5585-166_*1254del]
-
ABCA4_001552
no segregation analysis done
PubMed: Bauwens 2019
-
-
Unknown
-
-
-
-
-
DNA
SEQ-NG-I
-
-
retinal disease
P12G7
PubMed: Bauwens 2019
-
M
?
-
-
-
-
-
-
1
Stéphanie Cornelis
+?/.
39i_50_
c.5585-164_*400{0}
r.?
p.?
Unknown
ACMG
likely pathogenic
g.94457539_94476651del
g.93991983_94011095del
c.5585-164_*1256del
-
ABCA4_001552
ACMG PVS1, PM2_sup; severity category not assesed
Journal: Cornelis 2023
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
./.
-
c.-4263834_*647310del
r.?
p.?
Unknown
-
pathogenic
g.93811483_98850435del
-
-
-
DPYD_000017
decreased gene dosage
PubMed: DDDS 2015
,
Journal: DDDS 2015
-
-
De novo
-
-
-
-
-
DNA
SEQ, SEQ-NG-I
-
-
?
-
PubMed: DDDS 2015
,
Journal: DDDS 2015
family, 1 affected
F
-
United Kingdom (Great Britain)
-
-
-
Decipher
-
1
Johan den Dunnen
?/.
1
c.-92C>T
r.(?)
p.(?)
Unknown
-
VUS
g.94586693G>A
g.94121137G>A
c.-92C>T, Heterozygous
-
ABCA4_002258
-
PubMed: Goetz 2020
-
-
Unknown
-
-
-
-
-
DNA
SEQ-NG-I
-
solid state SBS
retinal disease
1018-1542
PubMed: Goetz 2020
-
-
?
-
-
-
-
-
-
1
Stéphanie Cornelis
-?/.
1
c.-92C>T
r.(?)
p.(?)
Unknown
ACMG
likely benign
g.94586693G>A
g.94121137G>A
-
-
ABCA4_002258
ACMG PM2_sup, BP4_m; severity category not assesed
Journal: Cornelis 2023
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.-14G>A
r.(?)
p.(?)
Unknown
-
VUS
g.94586615C>T
g.94121059C>T
c.2588G>C p.Gly863Ala
-
ABCA4_002257
-
PubMed: Georgiou 2019
-
-
Unknown
-
-
-
-
-
DNA
?
-
-
retinal disease
MM_0160
PubMed: Georgiou 2019
-
M
?
United Kingdom (Great Britain)
-
-
-
-
-
1
Stéphanie Cornelis
-?/.
1
c.-14G>A
r.(?)
p.(?)
Unknown
ACMG
likely benign
g.94586615C>T
g.94121059C>T
-
-
ABCA4_002257
ACMG PM2_sup, BP4_m; severity category not assesed
Journal: Cornelis 2023
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
_1_24
c.(?_-1)_3525del
r.0?
p.0?
Unknown
ACMG
likely pathogenic
g.94505681_(94586602_?)del
g.94040125_(94121046_?)del
-
-
ABCA4_002897
ACMG PVS1, PM2_sup; severity category not assesed
Journal: Cornelis 2023
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
_1_50_
c.-104_*400{0}
r.0
p.0
Unknown
-
likely pathogenic
g.(?_94458792)_(94586602_?)del
g.(?_93993236)_(94121046_?)del
c.(?_1)_(6822_?)del
-
ABCA4_000000
deletion encompassing region flanked by extragenic markers D1S435 and D1S2793
PubMed: Valverde 2006
-
-
Germline
-
-
-
-
-
DNA
PCR, PE
-
APEX
STGD1
-
PubMed: Valverde 2006
-
F
?
Spain
-
-
-
-
-
1
Stéphanie Cornelis
+/.
14i_17i
c.(2160+1_2161-1)_(2653+1_2654-1)
r.(?)
p.(?)
Unknown
-
pathogenic (recessive)
g.(94514514_94517188)_(94522379_94526092)del
g.(94048958_94051632)_(94056823_94060536)del
del ex15-17
-
ABCA4_002591
-
PubMed: Goetz 2020
-
-
Unknown
-
-
-
-
-
DNA
SEQ-NG-I
-
solid state SBS
retinal disease
1089-2521
PubMed: Goetz 2020
-
-
?
-
-
-
-
-
-
1
Stéphanie Cornelis
+/.
17i_50_
c.(2653+1_2654-1)_*400{0}
r.?
p.(Gly885Valfs*71)
Maternal (confirmed)
ACMG
pathogenic
g.(?_94458393)_(94514514_94517188)del
g.(?_93992837)_(94048958_94051632)del
-
-
ABCA4_002592
-
PubMed: Tracewska 2019
-
-
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
302
PubMed: Tracewska 2019
proband
F
no
Poland
Slavic
-
-
yes
-
1
Anna Tracewska
+/.
17i_50_
c.(2653+1_2654-1)_*400{0}
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(?_94458393)_(94514514_94517188)del
g.(?_93992837)_(94048958_94051632)del
c.(2653+1_2654-1)_(*1_?)del
-
ABCA4_002592
-
PubMed: Khan 2020
-
-
Unknown
-
-
-
-
-
DNA
MIPsm
-
smMIPs-based complete ABCA4 gene
retinal disease
71233
PubMed: Khan 2020
-
F
-
Poland
-
-
-
-
-
1
LOVD
+?/.
23i_50_
c.(3522+1_3523-1)_*400{0}
r.?
p.?
Unknown
-
likely pathogenic
g.(?_94402743)_(94505684_94506764)del
g.(?_93937187)_(94040128_94041208)del
chr1:g.94402743_94505682del
-
ABCA4_002761
heterozygous
PubMed: Turro 2020
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole genome sequencing
retinal disease
G007755
PubMed: Turro 2020
only individuals with mutations in retinal disease genes from this publication were inserted into LOVD
?
-
(United Kingdom (Great Britain))
-
-
-
-
-
1
LOVD
+/.
49i_50_
c.(6817-1_6818+1)_*400{0}
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(?_94458393)_(94458796_94458799)del
g.(?_93992837)_93993240_93993243)del
c.(6816+1_6817-1)_(*1_?)del#
-
ABCA4_002590
-
PubMed: Jespersgaard 2019
-
-
Unknown
-
-
-
-
-
DNA
SEQ-NG-I
-
-
retinal disease
25
PubMed: Jespersgaard 2019
-
-
?
Denmark
-
-
-
-
-
1
Stéphanie Cornelis
+?/.
-
c.0?
r.0?
p.(?)
Unknown
-
likely pathogenic
g.94476106_94586955del
g.94010550_94121399del
ABCA4 chr1:94476106_94586955del
-
ABCA4_002291
range 110244-110849 bp in various techniques, heterozygous
PubMed: Zampaglione 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I, PCRq
blood
-
retinal disease
OGI655_001331
PubMed: Zampaglione 2020
-
?
-
-
-
-
-
-
-
1
LOVD
+?/.
36
c.?
r.(?)
p.(?)
Unknown
-
likely pathogenic
g.?
-
deletion
-
ABCA4_000000
-
PubMed: Birch 2001
-
-
Germline
?
-
-
-
-
DNA
PCR, SEQ
-
-
CORD
-
PubMed: Birch 2001
-
?
?
-
?
-
-
-
-
1
Stéphanie Cornelis
+?/.
?
c.?
r.(?)
p.(?)
Unknown
-
likely pathogenic
g.?
-
c.3385C>T
-
ABCA4_000000
-
PubMed: Zernant 2011
-
-
Germline
?
-
-
-
-
DNA
PE, SEQ-NG, SEQ
-
APEX
?
-
PubMed: Zernant 2011
-
?
?
-
?
-
-
-
-
1
Stéphanie Cornelis
?/.
?
c.?
r.(?)
p.(?)
Unknown
-
VUS
g.?
-
Y850K
-
ABCA4_000000
-
PubMed: Testa 2012
-
-
Germline
?
-
-
-
-
DNA
PCR, SEQ
-
-
STGD1
-
PubMed: Testa 2012
-
?
?
-
?
-
-
-
-
1
Stéphanie Cornelis
+/.
?
c.?
r.(?)
p.?
Unknown
-
pathogenic
g.?
-
D654N
-
ABCA4_000000
-
PubMed: Cideciyan 2009
-
-
Germline
?
-
-
-
-
DNA
?
-
-
STGD1
-
PubMed: Cideciyan 2009
?
F
?
-
?
-
-
-
-
1
Stéphanie Cornelis
+/.
-
c.?
r.?
p.?
Parent #1
-
pathogenic
g.?
-
5226delC
-
NPHS2_000000
-
PubMed: Zolnikova 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
325-gene panel
retinal disease
P020
PubMed: Zolnikova 2017
-
-
-
Russia
Belarus
-
-
-
-
1
LOVD
+?/.
-
c.?
r.?
p.?
Parent #1
-
likely pathogenic
g.?
-
3896G>T intronic
-
NPHS2_000000
-
PubMed: Zolnikova 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
325-gene panel
retinal disease
P036
PubMed: Zolnikova 2017
-
-
-
Russia
Russia
-
-
-
-
1
LOVD
-?/.
-
c.?
r.?
p.?
Parent #1
-
likely benign
g.?
-
IVS50-131ins/del
-
NPHS2_000000
-
PubMed: Downs 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Downs 2007
-
-
-
-
-
-
-
-
-
1
Julia Lopez
+/.
38
c.?
r.(?)
p.(?)
Unknown
-
pathogenic (recessive)
g.?
-
11-basepair deletion in exon 38
-
NPHS2_000000
no variant 2nd chromosome
PubMed: Oh 2004
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
Patient 1
PubMed: Oh 2004
-
F
no
United States
-
-
-
-
-
1
Stéphanie Cornelis
+/.
23i_50_
c.?
r.(?)
p.(?)
Unknown
-
pathogenic (recessive)
g.?
-
deletion 1:94402743-94505682
-
NPHS2_000000
-
PubMed: Carss 2017
-
-
Unknown
-
-
-
-
-
DNA
SEQ-NG-I
-
-
retinal disease
G007755
PubMed: Carss 2017
-
M
?
England
Asia-S
-
-
-
-
1
Stéphanie Cornelis
+?/.
23
c.?
r.(?)
p.?
Unknown
-
likely pathogenic
g.?
-
c.3482C>A
-
ABCA4_000000
-
PubMed: _Audo-2012
-
-
Unknown
-
-
-
-
-
DNA
SEQ, SEQ-NG-S
blood
-
retinal disease
-
PubMed: _Audo-2012
Patients with unsolved genotype and unlikely disease causing mutations, but reported as polymorphism
-
-
-
-
-
-
-
-
1
LOVD
+?/.
13
c.?
r.(?)
p.?
Unknown
-
likely pathogenic
g.94528142C>T
-
c.1928G>A
-
ABCA4_000000
-
PubMed: Eisenberger-2013
-
rs114572202
Germline
-
-
-
-
-
DNA
SEQ-NG-I, SEQ-NG-R, SEQ
blood
-
retinal disease
-
PubMed: Eisenberger-2013
-
F
no
Germany
-
-
-
-
-
1
LOVD
+/.
-
c.?
r.(?)
p.?
Unknown
-
pathogenic
g.?
-
E636X
-
NPHS2_000000
-
PubMed: Shanks 2013
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG, PCR
-
-
retinal disease
-
PubMed: Shanks-2013
-
-
-
-
-
-
-
-
-
1
LOVD
?/.
-
c.?
r.(?)
p.(W439*)
Unknown
-
VUS
g.?
-
p.W439X
-
NPHS2_000000
-
PubMed: Matsui 2015
-
-
Germline
-
-
-
-
-
DNA
PE
-
-
retinal disease
-
PubMed: Matsui 2015
-
F
-
United States
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.?
p.?
Paternal (confirmed)
ACMG
likely pathogenic (recessive)
g.94452244_94471761del
-
-
-
ABCA4_000000
ACMG PM2, PVS1
PubMed: Weisschuh 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
STGD-397
PubMed: Weisschuh 2024
patient, no family history
M
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.?
r.?
p.?
Unknown
ACMG
likely pathogenic (recessive)
g.94586187_94587411del
-
-
-
ABCA4_000000
ACMG PM2, PVS1
PubMed: Weisschuh 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
STGD-455
PubMed: Weisschuh 2024
family, 2 affected
F
-
Germany
-
-
-
-
-
2
Johan den Dunnen
+/.
1
c.1A>G
r.(?)
p.0?
Both (homozygous)
-
pathogenic
g.94586601T>C
g.94121045T>C
c.6089G>A p.Arg2030Gln rs61750641 (homozygous)
-
ABCA4_000264
-
PubMed: Eisenberger 2013
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I, SEQ-NG-R, SEQ
-
-
retinal disease
-
PubMed: Eisenberger 2013
-
F
yes
Germany
German
-
-
-
-
1
Stéphanie Cornelis
+?/.
1
c.1A>G
r.(?)
p.0?
Parent #2
-
likely pathogenic
g.94586601T>C
g.94121045T>C
c.[1A>G]+[6089G>A]
-
ABCA4_000264
-
PubMed: Maia-Lopes 2009
-
-
Germline
-
-
-
-
-
DNA
PCR, PE, DHPLC, SEQ
-
APEX
STGD1
-
PubMed: Maia-Lopes 2009
-
?
?
Portugal
?
-
-
-
-
1
Stéphanie Cornelis
+?/.
1
c.1A>G
r.(?)
p.0?
Parent #1
-
likely pathogenic
g.94586601T>C
g.94121045T>C
M1V/R2030Q
-
ABCA4_000264
-
PubMed: Burke 2010
-
-
Germline
-
-
-
-
-
DNA
PE, SEQ
-
APEX
STGD1
-
PubMed: Burke 2010
-
F
?
-
?
-
-
-
-
1
Stéphanie Cornelis
+?/.
1
c.1A>G
r.(?)
p.0?
Parent #1
-
likely pathogenic
g.94586601T>C
g.94121045T>C
M1V;R2030Q
-
ABCA4_000264
-
PubMed: Maia-Lopes 2008
-
-
Germline
-
-
-
-
-
DNA
PE, SEQ
-
APEX
STGD1
-
PubMed: Maia-Lopes 2008
Not the patients themselves, but a first relative was genotyped. The expectation is that the patient has at least this mutation as well.
F
?
-
?
-
-
-
-
1
Stéphanie Cornelis
+?/.
1
c.1A>G
r.(?)
p.0?
Parent #1
-
likely pathogenic
g.94586601T>C
g.94121045T>C
Met1Val;Arg2030Gln
-
ABCA4_000264
-
PubMed: Oldani 2012
-
-
Germline
?
-
-
-
-
DNA
PCR, SEQ
-
-
STGD1
-
PubMed: Oldani 2012
-
?
?
-
?
-
-
-
-
1
Stéphanie Cornelis
+?/.
1
c.1A>G
r.(?)
p.0?
Unknown
-
likely pathogenic
g.94586601T>C
g.94121045T>C
Met1Val
-
ABCA4_000264
-
PubMed: Oldani 2012
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
STGD1
-
PubMed: Oldani 2012
-
?
?
-
?
-
-
-
-
1
Stéphanie Cornelis
+?/.
1
c.1A>G
r.(?)
p.0?
Parent #1
-
likely pathogenic
g.94586601T>C
g.94121045T>C
1A>G
-
ABCA4_000264
-
PubMed: Downes 2012
-
-
Germline
-
-
-
-
-
DNA
SEQ, MLPA
-
-
STGD1
-
PubMed: Downes 2012
-
?
?
-
?
-
-
-
-
1
Stéphanie Cornelis
+?/.
1
c.1A>G
r.(?)
p.0?
Unknown
-
likely pathogenic
g.94586601T>C
g.94121045T>C
[c.1A>G;p.R2030Q]
-
ABCA4_000264
-
PubMed: Nõupuu 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG-I
-
-
STGD1
-
PubMed: Nõupuu 2014
-
M
?
-
?
-
-
-
-
1
Stéphanie Cornelis
+?/.
1
c.1A>G
r.(1a>g)
p.(Met1?)
Parent #1
ACMG
likely pathogenic (recessive)
g.94586601T>C
g.94121045T>C
-
-
ABCA4_000264
-
PubMed: Cornelis 2017
,
Journal: Cornelis 2017
,
Journal: Cornelis 2023
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.1A>G
r.(?)
p.0?
Unknown
-
pathogenic
g.94586601T>C
g.94121045T>C
-
-
ABCA4_000264
-
Sharon, submitted
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
STGD1
-
Sharon, submitted
-
F
no
Israel
Jewish-Ashkenazi
-
-
-
-
1
Dror Sharon
+/.
-
c.1A>G
r.(?)
p.0?
Parent #1
ACMG
pathogenic
g.94586601T>C
-
c.[1A>G;6089G>A]
-
ABCA4_000264
-
PubMed: Sharon 2019
-
-
Germline
-
1/2420 IRD families
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Sharon 2019
1 IRD family
-
-
Israel
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/.
1
c.1A>G
r.(?)
p.(Met1Val)
Unknown
-
pathogenic (recessive)
g.94586601T>C
g.94121045T>C
M1V
-
ABCA4_000264
segregation analysis done when possible
PubMed: Chen 2010
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
S0039
PubMed: Chen 2010
-
-
?
United States
-
-
-
-
-
1
Stéphanie Cornelis
+/.
1
c.1A>G
r.(?)
p.(Met1Val)
Unknown
-
pathogenic (recessive)
g.94586601T>C
g.94121045T>C
c.1A>G p.(M1?)
-
ABCA4_000264
no variant 2nd chromosome
PubMed: Schulz 2017
-
-
Unknown
-
-
-
-
-
DNA
arraySEQ, SEQ-NG
-
RetChip
retinal disease
Unknown 371
PubMed: Schulz 2017
191 F, 144 M in this study
-
?
Germany
-
-
-
-
-
1
Stéphanie Cornelis
+/.
1
c.1A>G
r.(?)
p.(Met1Val)
Parent #1
-
pathogenic (recessive)
g.94586601T>C
g.94121045T>C
c.[1A>G;6089G>A] (p.[?;Arg2030Gln])
-
ABCA4_000264
-
PubMed: Zernant 2017
-
-
Unknown
yes
-
-
-
-
DNA
SEQ-NG-I
-
-
retinal disease
3586
PubMed: Zernant 2017
-
-
?
United States
-
-
-
-
-
1
Stéphanie Cornelis
+/.
1
c.1A>G
r.(?)
p.(Met1Val)
Parent #1
-
pathogenic (recessive)
g.94586601T>C
g.94121045T>C
c.1A>G (p.?)
-
ABCA4_000264
-
PubMed: Zernant 2017
-
-
Unknown
yes
-
-
-
-
DNA
SEQ-NG-I
-
-
retinal disease
3016
PubMed: Zernant 2017
-
-
?
United States
-
-
-
-
-
1
Stéphanie Cornelis
+/.
1
c.1A>G
r.(?)
p.(Met1Val)
Parent #1
-
pathogenic (recessive)
g.94586601T>C
g.94121045T>C
c.[1A>G;6089G>A] (p.[?;Arg2030Gln])
-
ABCA4_000264
no segregation analysis done
PubMed: Zernant 2017
-
-
Unknown
-
-
-
-
-
DNA
SEQ-NG-I
-
-
retinal disease
3236
PubMed: Zernant 2017
-
-
?
United States
-
-
-
-
-
1
Stéphanie Cornelis
+/.
1
c.1A>G
r.(?)
p.(Met1Val)
Unknown
-
pathogenic (recessive)
g.94586601T>C
g.94121045T>C
c.1A>G
-
ABCA4_000264
-
PubMed: Cai 2018
-
-
Unknown
-
-
-
-
-
DNA
?
-
-
retinal disease
P4
PubMed: Cai 2018
-
F
?
United States
-
-
-
-
-
1
Stéphanie Cornelis
+/.
1
c.1A>G
r.(?)
p.(Met1Val)
Unknown
-
pathogenic (recessive)
g.94586601T>C
g.94121045T>C
c.1A>G, p.Met1Val(splice site alteration)
-
ABCA4_000264
-
PubMed: Fujinami 2019
-
-
Unknown
-
-
-
-
-
DNA
SEQ-NG
-
SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134)
retinal disease
11015
PubMed: Fujinami 2019
191 F, 154 M in this study
-
?
United States
-
-
-
-
-
1
Stéphanie Cornelis
+/.
1
c.1A>G
r.(?)
p.(Met1Val)
Unknown
-
pathogenic (recessive)
g.94586601T>C
g.94121045T>C
c.1A>G, p.Met1Val(splice site alteration)
-
ABCA4_000264
-
PubMed: Fujinami 2019
-
-
Unknown
-
-
-
-
-
DNA
SEQ-NG
-
SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134)
retinal disease
11026
PubMed: Fujinami 2019
191 F, 154 M in this study
-
?
United States
-
-
-
-
-
1
Stéphanie Cornelis
+/.
1
c.1A>G
r.(?)
p.(Met1Val)
Unknown
-
pathogenic (recessive)
g.94586601T>C
g.94121045T>C
c.1A>G, p.Met1Val(splice site alteration)
-
ABCA4_000264
-
PubMed: Fujinami 2019
-
-
Unknown
-
-
-
-
-
DNA
SEQ-NG
-
SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134)
retinal disease
12025
PubMed: Fujinami 2019
191 F, 154 M in this study
-
?
United States
-
-
-
-
-
1
Stéphanie Cornelis
+/.
1
c.1A>G
r.(?)
p.(Met1Val)
Both (homozygous)
-
pathogenic (recessive)
g.94586601T>C
g.94121045T>C
c.1A>G p.(Met1?)
-
ABCA4_000264
-
PubMed: Tayebi 2019
-
-
Unknown
-
-
-
-
-
DNA
MIPsm, SEQ
-
exons
retinal disease
66,592
PubMed: Tayebi 2019
-
-
?
Iran
Iran
-
-
-
-
1
Stéphanie Cornelis
+/.
1
c.1A>G
r.(?)
p.(Met1Val)
Unknown
-
pathogenic (recessive)
g.94586601T>C
g.94121045T>C
c.[1A>G;6089G>A]
-
ABCA4_000264
-
PubMed: Sharon 2019
-
-
Unknown
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
Unknown 775
PubMed: Sharon 2019
-
-
?
Israel
-
-
-
-
-
1
Stéphanie Cornelis
+/.
1
c.1A>G
r.(?)
p.(Met1Val)
Parent #1
-
pathogenic (recessive)
g.94586601T>C
g.94121045T>C
c.[1A>G;6089G>A] p.[Met1Val;Arg2030Gln]
-
ABCA4_000264
-
PubMed: Del Pozo-Valero 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
MD-0555
PubMed: Del Pozo-Valero 2020
-
-
?
Spain
-
-
-
-
-
1
Stéphanie Cornelis
+/.
1
c.1A>G
r.(?)
p.(Met1Val)
Unknown
-
pathogenic (recessive)
g.94586601T>C
g.94121045T>C
c.1A>G p.(Met1?)
-
ABCA4_000264
no variant 2nd chromosome
PubMed: Hanany 2018
-
-
Unknown
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
Unknown 1222
PubMed: Hanany 2018
mutations were not reported per patient, so a second mutation might be present
-
?
Israel
-
-
-
-
-
1
Stéphanie Cornelis
+/.
1
c.1A>G
r.(?)
p.(Met1Val)
Unknown
-
pathogenic (recessive)
g.94586601T>C
g.94121045T>C
c.1A>G p.Met1? het
-
ABCA4_000264
-
Prevention Genetics
-
-
Unknown
-
-
-
-
-
DNA
SEQ-NG
-
STGDMD panel
retinal disease
2016-196-026
Prevention Genetics
-
-
?
-
Jewish-Ashkenazi
-
-
-
-
1
Stéphanie Cornelis
+/.
1
c.1A>G
r.(?)
p.(Met1Val)
Unknown
-
pathogenic (recessive)
g.94586601T>C
g.94121045T>C
het c.1A>G p.Met1Val
-
ABCA4_000264
-
PubMed: Gliem 2020
-
-
Unknown
-
-
-
-
-
DNA
SEQ-NG-I
-
-
retinal disease
29
PubMed: Gliem 2020
-
M
?
Germany
-
-
-
-
-
1
Stéphanie Cornelis
+/.
1
c.1A>G
r.(?)
p.(Met1Val)
Unknown
-
pathogenic (recessive)
g.94586601T>C
g.94121045T>C
c.1A>G, p.Met1Val heterozygous
-
ABCA4_000264
-
PubMed: Goetz 2020
-
-
Unknown
-
-
-
-
-
DNA
arraySEQ, SEQ
-
Gene Chip
retinal disease
6070-626
PubMed: Goetz 2020
-
-
?
-
-
-
-
-
-
1
Stéphanie Cornelis
+/.
1
c.1A>G
r.(?)
p.(Met1Val)
Unknown
-
pathogenic (recessive)
g.94586601T>C
g.94121045T>C
c.1A>G, p.Met1Val heterozygous
-
ABCA4_000264
-
PubMed: Goetz 2020
-
-
Unknown
-
-
-
-
-
DNA
arraySEQ, SEQ
-
Gene Chip
retinal disease
6437-817
PubMed: Goetz 2020
-
-
?
-
-
-
-
-
-
1
Stéphanie Cornelis
+/.
1
c.1A>G
r.?
p.?
Both (homozygous)
-
pathogenic
g.94586601T>C
-
c.1A>G
-
ABCA4_000264
-
PubMed: Eisenberger-2013
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I, SEQ-NG-R, SEQ
-
-
retinal disease
-
PubMed: Eisenberger 2013
-
F
yes
Germany
German
-
-
-
-
1
Stéphanie Cornelis
+?/.
1
c.1A>G
r.(?)
p.(Met1?)
Unknown
-
likely pathogenic
g.94586601T>C
g.94121045T>C
ABCA4 Ex.1 c.1A>G p.(?), Ex.22 c.3210_3211dup p.(Ser1071Cysfs*14), ABCA4: Ex.44 c.6089G>A p.(Arg2030Gln)
-
ABCA4_000264
compound heterozygous
PubMed: Martin Merida 2019
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG-I
-
-
retinal disease
RP-1112
PubMed: Martin Merida 2019
-
?
-
Spain
-
-
-
-
-
1
LOVD
+?/.
1
c.1A>G
r.(?)
p.(Met1?)
Both (homozygous)
-
likely pathogenic
g.94586601T>C
g.94121045T>C
c.1A>G, p.(Met1?)
-
ABCA4_000264
Homozygous
PubMed: Tayebi 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
blood
108-gene panel targeted resequencing using MIPs library prep
retinal disease
066592
PubMed: Tayebi 2019
-
-
-
Iran
-
-
-
-
-
1
LOVD
+?/.
1
c.1A>G
r.?
p.?
Unknown
-
likely pathogenic
g.94586601T>C
-
c.1A>G
-
ABCA4_000264
-
PubMed: Maggi_2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Maggi_2021
-
F
-
Switzerland
-
-
-
-
-
1
LOVD
+/.
1
c.1A>G
r.?
p.(Met1Val)
Parent #1
ACMG
pathogenic (recessive)
g.94586601T>C
-
-
-
ABCA4_000264
-
Bianco 2023, submitted
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
Peripheral Blood Sample
-
STGD1
601691#66
Bianco 2023, submitted
-
M
no
Italy
-
-
-
-
-
1
Lorenzo Bianco
+/.
-
c.1A>G
r.(?)
p.?
Unknown
-
pathogenic
g.94586601T>C
-
-
-
ABCA4_000264
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
1
c.1A>G
r.(?)
p.(Met1?)
Parent #1
ACMG
likely pathogenic (recessive)
g.94586601T>C
g.94121045T>C
-
-
ABCA4_000264
-
PubMed: Corradi 2023
,
Journal: Corradi 2023
-
-
Germline
yes
-
-
-
-
DNA
MIPsm, SEQ-NG
-
-
retinal disease
Pat37
PubMed: Corradi 2023
,
Journal: Corradi 2023
-
F
-
-
-
-
-
-
-
1
Zelia Corradi
+?/.
-
c.1A>G
r.(?)
p.(Met1?)
Unknown
-
likely pathogenic (recessive)
g.94586601T>C
g.94121045T>C
-
-
ABCA4_000264
-
PubMed: Cornelis 2024
,
Journal: Cornelis 2024
-
-
Unknown
-
-
-
-
-
DNA
SEQ-NG-I
-
-
retinal disease
L-0438
PubMed: Cornelis 2024
,
Journal: Cornelis 2024
-
F
-
France
-
-
-
-
-
1
Frans Cremers
+?/.
-
c.1A>G
r.(?)
p.(Met1?)
Parent #1
-
likely pathogenic (recessive)
g.94586601T>C
g.94121045T>C
-
-
ABCA4_000264
-
PubMed: Cornelis 2024
,
Journal: Cornelis 2024
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
L-0496
PubMed: Cornelis 2024
,
Journal: Cornelis 2024
-
M
-
France
-
-
-
-
-
1
Frans Cremers
+?/.
-
c.1A>G
r.(?)
p.(Met1?)
Parent #1
-
likely pathogenic (recessive)
g.94586601T>C
g.94121045T>C
-
-
ABCA4_000264
-
PubMed: Cornelis 2024
,
Journal: Cornelis 2024
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
-
-
retinal disease
L-0561
PubMed: Cornelis 2024
,
Journal: Cornelis 2024
-
M
-
France
-
-
-
-
-
1
Frans Cremers
+?/.
-
c.1A>G
r.(?)
p.(Met1?)
Unknown
-
likely pathogenic (recessive)
g.94586601T>C
g.94121045T>C
-
-
ABCA4_000264
-
PubMed: Cornelis 2024
,
Journal: Cornelis 2024
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
MEH-nonmild-425
PubMed: Cornelis 2024
,
Journal: Cornelis 2024
-
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Stéphanie Cornelis
+/.
1
c.1A>G
r.(?)
p.(Met1?)
Parent #1
ACMG
pathogenic
g.94586601T>C
g.94121045T>C
-
-
ABCA4_000264
-
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
smMIP-based 105 iMD/AMD genes
macular dystrophy
072797
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
F
-
-
-
-
-
-
-
1
Rebekkah Hitti-Malin
+/.
1
c.1A>G
r.(?)
p.(Met1?)
Parent #1
ACMG
pathogenic
g.94586601T>C
g.94121045T>C
-
-
ABCA4_000264
-
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
smMIP-based 105 iMD/AMD genes
macular dystrophy
074083
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
F
-
-
-
-
-
-
-
1
Rebekkah Hitti-Malin
+/.
1
c.1_3delinsGTC
r.(?)
p.0?
Unknown
-
pathogenic
g.94586599_94586601delinsGAC
g.94121043_94121045delinsGAC
ATG>GTC
-
ABCA4_000262
-
PubMed: Briggs 2001
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
STGD1
-
PubMed: Briggs 2001
-
?
?
-
?
-
-
-
-
1
Stéphanie Cornelis
?/.
1
c.1_3delinsGTC
r.(?)
p.(Met1?)
Parent #1
ACMG
VUS
g.94586599_94586601delinsGAC
g.94121043_94121045delinsGAC
-
-
ABCA4_000262
-
PubMed: Cornelis 2017
,
Journal: Cornelis 2017
,
Journal: Cornelis 2023
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
_1_50_
c.-104_*400{0}
r.0
p.0
Parent #1
ACMG
likely pathogenic (recessive)
g.(?_94458792)_(94586602_?)del
g.(?_93993236)_(94121046_?)del
del gene, c.(?_-1)_(*1_?)del
-
ABCA4_000862
deletion entire ABCA4 gene
PubMed: Cornelis 2017
,
Journal: Cornelis 2017
,
Journal: Cornelis 2023
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.2T>C
r.(?)
p.0?
Both (homozygous)
-
pathogenic
g.94586600A>G
g.94121044A>G
c.2T<C
-
ABCA4_000263
-
PubMed: Maia-Lopes 2009
-
-
Germline
-
2, 121346, 0, 0.00001648
-
-
-
DNA
PCR, PE, DHPLC, SEQ
-
APEX
STGD1
-
PubMed: Maia-Lopes 2009
-
?
?
Portugal
?
-
-
-
-
1
Stéphanie Cornelis
+?/.
1
c.2T>C
r.(?)
p.0?
Unknown
-
likely pathogenic
g.94586600A>G
g.94121044A>G
M1T
-
ABCA4_000263
-
PubMed: Maia-Lopes 2008
-
-
Germline
-
-
-
-
-
DNA
PE, SEQ
-
APEX
STGD1
-
PubMed: Maia-Lopes 2008
Not the patients themselves, but a first relative was genotyped. The expectation is that the patient has at least this mutation as well.
M
?
-
?
-
-
-
-
1
Stéphanie Cornelis
+?/.
1
c.2T>C
r.(2u>c)
p.(Met1?)
Parent #1
ACMG
likely pathogenic (recessive)
g.94586600A>G
g.94121044A>G
-
-
ABCA4_000263
-
PubMed: Cornelis 2017
,
Journal: Cornelis 2017
,
Journal: Cornelis 2023
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.2T>C
r.(?)
p.(=,?)
Unknown
-
pathogenic (recessive)
g.94586600A>G
g.94121044A>G
Codon 1 ATG-ACG Met-Thr
-
ABCA4_000263
no variant 2nd chromosome
PubMed: Maia-Lopes 2008
-
-
Unknown
-
-
-
-
-
DNA
?
-
-
retinal disease
Unknown 59
PubMed: Maia-Lopes 2008
-
-
?
Portugal
-
-
-
-
-
1
Stéphanie Cornelis
+?/.
-
c.2T>C
r.(?)
p.(Met1?)
Unknown
ACMG
likely pathogenic
g.94586600A>G
g.94121044A>G
-
-
ABCA4_000263
case unsolved
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
smMIP-based 105 iMD/AMD genes
macular dystrophy
070809
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+?/.
1
c.3G>A
r.(?)
p.0?
Unknown
-
likely pathogenic
g.94586599C>T
g.94121043C>T
c.3G>A
-
ABCA4_000261
On its own not significantely found more often in published STGD compared to ExAC (p-value 0.12). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01).
PubMed: Riveiro-Alvarez 2013
-
-
Germline
?
3, 121340, 0, 0.00002472
-
-
-
DNA
PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG
-
APEX
STGD1
-
PubMed: Riveiro-Alvarez 2013
-
?
?
Spain
?
-
-
-
-
1
Stéphanie Cornelis
+?/.
1
c.3G>A
r.(3g>a)
p.(Met1?)
Parent #1
ACMG
likely pathogenic (recessive)
g.94586599C>T
g.94121043C>T
-
-
ABCA4_000261
variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population
PubMed: Cornelis 2017
,
Journal: Cornelis 2017
,
Journal: Cornelis 2023
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.3G>A
r.(?)
p.(Met1Ile)
Unknown
-
pathogenic (recessive)
g.94586599C>T
g.94121043C>T
c.3G>A
-
ABCA4_000261
no segregation analysis done
PubMed: Sung 2020
-
-
Unknown
-
-
-
-
-
DNA
SEQ-NG-I
-
-
retinal disease
F30 P35
PubMed: Sung 2020
-
-
?
-
Han
-
-
-
-
1
Stéphanie Cornelis
+/.
1
c.3G>T
r.(?)
p.(?)
Unknown
-
pathogenic (recessive)
g.94586599C>A
g.94121043C>A
c.3G>T, Heterozygous
-
ABCA4_002256
-
PubMed: Goetz 2020
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
5042-6995
PubMed: Goetz 2020
-
-
?
-
-
-
-
-
-
1
Stéphanie Cornelis
?/.
1
c.3G>T
r.(?)
p.(Met1?)
Unknown
ACMG
VUS
g.94586599C>A
g.94121043C>A
-
-
ABCA4_002256
ACMG PVS1_M, PM2_sup, PM5; severity category uncertain
Journal: Cornelis 2023
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.16C>T
r.(?)
p.(Gln6*)
Unknown
-
pathogenic (recessive)
g.94586586G>A
g.94121030G>A
c.16C>T, p.Gln6Ter
-
ABCA4_002255
-
PubMed: Fujinami 2019
-
-
Unknown
-
-
-
-
-
DNA
SEQ-NG
-
SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134)
retinal disease
11029
PubMed: Fujinami 2019
191 F, 154 M in this study
-
?
United States
-
-
-
-
-
1
Stéphanie Cornelis
+?/.
1
c.16C>T
r.(?)
p.(Gln6Ter)
Parent #1
ACMG
likely pathogenic
g.94586586G>A
g.94121030G>A
-
-
ABCA4_002255
-
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
smMIP-based 105 iMD/AMD genes
macular dystrophy
073318
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
F
-
-
-
-
-
-
-
1
Rebekkah Hitti-Malin
+/.
1
c.16C>T
r.(?)
p.(Gln6Ter)
Unknown
ACMG
pathogenic
g.94586586G>A
g.94121030G>A
-
-
ABCA4_002255
ACMG PVS1, PM2_sup, PP3_m; severity category severe
Journal: Cornelis 2023
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.18_19del
r.(?)
p.(Gln6HisfsTer47)
Unknown
ACMG
likely pathogenic (recessive)
g.94586584_94586585del
g.94121028_94121029del
-
-
ABCA4_002370
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
STGD1
-
-
-
-
-
Mexico
-
-
-
-
-
1
Nancy Xilotl de Jesús
+?/.
1
c.20T>A
r.(?)
p.(Ile7Lys)
Unknown
-
likely pathogenic (recessive)
g.94586582A>T
g.94121026A>T
c.20T>A, p.Ile7Lys Heterozygous
-
ABCA4_002254
-
PubMed: Goetz 2020
-
-
Unknown
-
-
-
-
-
DNA
arraySEQ, SEQ
-
Gene Chip
retinal disease
502-1043
PubMed: Goetz 2020
-
-
?
-
-
-
-
-
-
1
Stéphanie Cornelis
?/.
1
c.20T>A
r.(?)
p.(Ile7Lys)
Unknown
ACMG
VUS
g.94586582A>T
g.94121026A>T
-
-
ABCA4_002254
ACMG PM2_sup; severity category uncertain
Journal: Cornelis 2023
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.21dup
r.(?)
p.(Gln8Hisfs*33)
Parent #1
-
pathogenic (recessive)
g.94586581dup
g.94121025dup
p.[Gln8fs];c.[5461-10T>C]
-
ABCA4_002253
-
PubMed: Fujinami 2015
-
-
Unknown
yes
-
-
-
-
DNA
?
-
-
retinal disease
20
PubMed: Fujinami 2015
-
-
no
United Kingdom (Great Britain)
-
-
-
-
-
1
Stéphanie Cornelis
10 per page
25 per page
50 per page
100 per page
Legend
How to query
« First
Prev
1
2
3
4
5
6
7
8
9
10
11
...
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