Global Variome shared LOVD
CRYAA (crystallin, alpha A)
LOVD v.3.0 Build 30b [
Current LOVD status
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Curators:
Lars Hansen
and
Johan den Dunnen
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This database is one of the
"Eye disease"
gene variant databases.
The variants shown are described using the NM_000394.2 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
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
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|
Text
Arg|Ser
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!
Text
!fs
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^
Text
^p.(Arg
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$
Text
Ser)$
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=""
Text
=""
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=""
Text
="p.0"
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!=""
Text
!=""
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!=""
Text
!="p.0"
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combination
Text
*|Ter !fs
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Date
2020
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|
Date
2020-03|2020-04
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!
Date
!2020-03
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<
Date
<2020
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<=
Date
<=2020-06
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>
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
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Numeric
23
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|
Numeric
23|24
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!
Numeric
!23
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<
Numeric
<23
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<=
Numeric
<=23
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>
Numeric
>23
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>=
Numeric
>=23
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combination
Numeric
>=20 <30 !23
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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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147 entries on 2 pages. Showing entries 1 - 100.
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Effect
Exon
DNA change (cDNA)
RNA change
Protein
Allele
Classification method
Clinical classification
DNA change (genomic) (hg19)
DNA change (hg38)
Published as
ISCN
DB-ID
Variant remarks
Reference
ClinVar ID
dbSNP ID
Origin
Segregation
Frequency
Re-site
VIP
Methylation
Template
Technique
Tissue
Remarks
Disease
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Panel size
Owner
-/.
1
c.6C>T
r.(?)
p.(=)
Parent #1
-
benign
g.44589215C>T
g.43169105C>T
-
-
CRYAA_000010
-
PubMed: Litt 1998
-
rs872331
Germline
-
-
-
-
-
DNA
SEQ
-
-
CTRCT
-
-
4-generation family, 13 afffecteds
-
-
United States
-
-
-
-
-
13
Lars Hansen
-/.
1
c.6C>T
r.(?)
p.(=)
Parent #1
-
benign
g.44589215C>T
g.43169105C>T
-
-
CRYAA_000010
-
PubMed: Beby 2007
-
rs872331
Germline
-
-
-
-
-
DNA
SEQ
-
-
CTRCT
-
-
4-generation family, 12 affecteds
-
-
France
-
-
-
-
-
12
Lars Hansen
-/.
1
c.6C>T
r.(?)
p.(=)
Unknown
-
benign
g.44589215C>T
g.43169105C>T
D2D
-
CRYAA_000010
10/11 families tested
PubMed: Santana 2009
-
rs872331
Germline
-
10/11/15
-
-
-
DNA
SEQ
-
-
CTRCT
-
-
-
-
-
Brazil
-
-
-
-
-
10
Johan den Dunnen
?/.
1
c.6C>T
r.(?)
p.(=)
Parent #1
-
VUS
g.44589215C>T
g.43169105C>T
6G>A
-
CRYAA_000010
144 controls
PubMed: Bhagyalaxmi 2010
-
rs872331
Germline
-
24/144
-
-
-
DNA
SSCA, SEQ
-
-
Healthy/Control
-
-
-
-
-
India
-
-
-
-
-
24
Johan den Dunnen
?/.
1
c.6C>T
r.(?)
p.(=)
Paternal (inferred)
-
VUS
g.44589215C>T
g.43169105C>T
6G>A
-
CRYAA_000010
144 controls
PubMed: Bhagyalaxmi 2010
-
rs872331
Germline
-
3/144
-
-
-
DNA
SSCA, SEQ
-
-
Healthy/Control
-
-
-
-
-
India
-
-
-
-
-
6
Johan den Dunnen
?/.
1
c.6C>T
r.(?)
p.(=)
Parent #1
-
VUS
g.44589215C>T
g.43169105C>T
6G>A
-
CRYAA_000010
910 cataract cases
PubMed: Bhagyalaxmi 2010
-
rs872331
Germline
-
121/455
-
-
-
DNA
SSCA, SEQ
-
-
CTRCT
-
-
-
-
-
India
-
-
-
-
-
121
Johan den Dunnen
?/.
1
c.6C>T
r.(?)
p.(=)
Paternal (inferred)
-
VUS
g.44589215C>T
g.43169105C>T
6G>A
-
CRYAA_000010
910 cataract cases
PubMed: Bhagyalaxmi 2010
-
rs872331
Germline
-
28/455
-
-
-
DNA
SSCA, SEQ
-
-
CTRCT
-
-
-
-
-
India
-
-
-
-
-
56
Johan den Dunnen
-/.
1
c.6C>T
r.(?)
p.(=)
Unknown
-
benign
g.44589215C>T
g.43169105C>T
D2D
-
CRYAA_000010
-
PubMed: Santana 2009
-
rs872331
Germline
-
-
-
-
-
DNA
SEQ
-
-
CTRCT
-
-
2-generation family, 3 affecteds
-
-
Brazil
-
-
-
-
-
3
Johan den Dunnen
-/.
1
c.6C>T
r.(?)
p.(=)
Unknown
-
benign
g.44589215C>T
g.43169105C>T
D2D
-
CRYAA_000010
-
PubMed: Santana 2009
-
rs872331
Germline
-
-
-
-
-
DNA
SEQ
-
-
CTRCT
-
-
affected father, dauther and son
-
-
Brazil
-
-
-
-
-
3
Johan den Dunnen
-/.
1
c.6C>T
r.(?)
p.(=)
Unknown
-
benign
g.44589215C>T
g.43169105C>T
D2D
-
CRYAA_000010
variant in family
PubMed: Santana 2009
-
rs872331
Germline
-
-
-
-
-
DNA
SEQ
-
-
CTRCT
-
-
-
-
-
Brazil
-
-
-
-
-
5
Johan den Dunnen
-/.
1
c.6C>T
r.(?)
p.(=)
Unknown
-
benign
g.44589215C>T
g.43169105C>T
-
-
CRYAA_000010
in controls and cataract patients
PubMed: Pang 2002
-
rs872331
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
-
-
-
China
-
-
-
-
-
1
Johan den Dunnen
-/.
1
c.6C>T
r.(?)
p.(=)
Parent #2
-
benign
g.44589215C>T
g.43169105C>T
-
-
CRYAA_000010
-
PubMed: Beby 2007
-
rs872331
Germline
-
-
-
-
-
DNA
SEQ
-
-
CTRCT
-
-
4-generation family, 12 affecteds
-
-
France
-
-
-
-
-
12
Lars Hansen
-/.
1
c.6C>T
r.(?)
p.(=)
Paternal (confirmed)
-
benign
g.44589215C>T
g.43169105C>T
6T>C
-
CRYAA_000010
-
PubMed: Graw 2006
-
rs872331
Germline
-
-
-
-
-
DNA
SEQ
-
-
CTRCT
-
-
-
-
-
Germany
-
-
-
-
-
1
Johan den Dunnen
?/.
1
c.6C>T
r.(?)
p.(=)
Maternal (inferred)
-
VUS
g.44589215C>T
g.43169105C>T
6G>A
-
CRYAA_000010
144 controls
PubMed: Bhagyalaxmi 2010
-
rs872331
Germline
-
3/144
-
-
-
DNA
SSCA, SEQ
-
-
Healthy/Control
-
-
-
-
-
India
-
-
-
-
-
6
Johan den Dunnen
?/.
1
c.6C>T
r.(?)
p.(=)
Maternal (inferred)
-
VUS
g.44589215C>T
g.43169105C>T
6G>A
-
CRYAA_000010
910 cataract cases
PubMed: Bhagyalaxmi 2010
-
rs872331
Germline
-
28/455
-
-
-
DNA
SSCA, SEQ
-
-
CTRCT
-
-
-
-
-
India
-
-
-
-
-
56
Johan den Dunnen
-/.
1
c.6C>T
r.(?)
p.(=)
Parent #2
-
benign
g.44589215C>T
g.43169105C>T
-
-
CRYAA_000010
not seggregating with disease; 14 heterozygotes in family
PubMed: Richter 2008
-
rs872331
Germline
-
-
-
-
-
DNA
SEQ
-
-
CTRCT
-
-
4-generation family, 14 affecteds
-
-
Chile
-
-
-
-
-
13
Johan den Dunnen
-?/.
-
c.6C>T
r.(?)
p.(Asp2=)
Unknown
-
likely benign
g.44589215C>T
g.43169105C>T
-
-
CRYAA_000010
-
PubMed: Li 2019
-
rs872331
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
CTRCT
Fam4PatIV1
PubMed: Li 2019
4-generation family, 4 affected (2F, 2M)
F
-
China
-
-
-
-
-
4
Johan den Dunnen
+/.
1
c.27G>A
r.(?)
p.(Trp9*)
Paternal (confirmed)
-
pathogenic
g.44589236G>A
g.43169126G>A
-
-
CRYAA_000001
not in 140 control chromosomes
PubMed: Pras 2000
,
OMIM:var0002
-
rs74315440
Germline
-
-
HinfI+
-
-
DNA
SSCA, SEQ
-
-
CTRCT
-
-
4-generation family, 3 affected sisters
F
yes
Iran
Jewish
-
-
-
-
6
Johan den Dunnen
+/.
1
c.27G>A
r.(?)
p.(Trp9*)
Maternal (confirmed)
-
pathogenic
g.44589236G>A
g.43169126G>A
-
-
CRYAA_000001
not in 140 control chromosomes
PubMed: Pras 2000
,
OMIM:var0002
-
rs74315440
Germline
-
-
HinfI+
-
-
DNA
SSCA, SEQ
-
-
CTRCT
-
-
4-generation family, 3 affected sisters
F
yes
Iran
Jewish
-
-
-
-
6
Johan den Dunnen
+/.
1
c.34C>T
r.(?)
p.(Arg12Cys)
Maternal (confirmed)
-
pathogenic (dominant)
g.44589243C>T
g.43169133C>T
-
-
CRYAA_000002
not in 340 control chromosomes
PubMed: Hansen 2007
,
PubMed: Hansen 2009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CTRCT
CCMC0101
PubMed: Hansen 2007
,
PubMed: Hansen 2009
3-generation family, affected mother and son
M
-
Denmark
-
-
-
-
-
2
Lars Hansen
+/.
1
c.34C>T
r.(?)
p.(Arg12Cys)
Parent #1
-
pathogenic
g.44589243C>T
g.43169133C>T
-
-
CRYAA_000002
-
PubMed: Zhang 2009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CTRCT
-
-
3-generation family, 6 affecteds
-
-
China
-
-
-
-
-
6
Johan den Dunnen
+/.
1
c.34C>T
r.(?)
p.(Arg12Cys)
Parent #1
-
pathogenic
g.44589243C>T
g.43169133C>T
104C>T
-
CRYAA_000002
not in 100 control chromosomes
PubMed: Devi 2008
-
-
Germline
-
-
ApaLI+
-
-
DNA
SEQ
-
-
CTRCT
-
-
affected mother and son
-
-
India
-
-
-
-
-
2
Johan den Dunnen
+/.
1
c.34C>T
r.(?)
p.(Arg12Cys)
Parent #1
-
pathogenic
g.44589243C>T
g.43169133C>T
-
-
CRYAA_000002
not in 100 control chromosomes
PubMed: Santana 2009
-
-
Germline
-
-
HhaI-
-
-
DNA
SEQ
-
-
CTRCT
-
-
2-generation family, 3 affecteds
-
-
Brazil
-
-
-
-
-
3
Johan den Dunnen
+/.
-
c.34C>T
r.(?)
p.(Arg12Cys)
Unknown
-
pathogenic
g.44589243C>T
g.43169133C>T
CRYAA(NM_000394.2):c.34C>T (p.(Arg12Cys)), CRYAA(NM_000394.4):c.34C>T (p.R12C)
-
CRYAA_000002
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.34C>T
r.(?)
p.(Arg12Cys)
Unknown
-
pathogenic
g.44589243C>T
-
CRYAA(NM_000394.2):c.34C>T (p.(Arg12Cys)), CRYAA(NM_000394.4):c.34C>T (p.R12C)
-
CRYAA_000002
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.34C>T
r.(?)
p.(Arg12Cys)
Unknown
-
likely pathogenic
g.44589243C>T
g.43169133C>T
c.34C-->T; p.Arg12Cys
-
CRYAA_000002
no Sanger sequencing; heterozygous
PubMed: Patel 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
-
GLC1A
71
PubMed: Patel 2019
-
?
-
United Kingdom (Great Britain)
-
-
-
-
-
1
LOVD
+?/.
-
c.34C>T
r.(?)
p.(Arg12Cys)
Unknown
ACMG
likely pathogenic
g.44589243C>T
g.43169133C>T
CRYAA c.34C>T p.(Arg12Cys) het
-
CRYAA_000002
heterozygous
PubMed: Lenassi 2020
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
144 genes panel tested
retinal disease
17021643
PubMed: Lenassi 2020
retrospective analysis
M
-
(United Kingdom (Great Britain))
-
-
-
-
-
1
LOVD
+/.
-
c.34C>T
r.(?)
p.(Arg12Cys)
Unknown
-
pathogenic (dominant)
g.44589243C>T
g.43169133C>T
-
-
CRYAA_000002
-
PubMed: Zhang 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
CTRCT
WCC10PatIII2
PubMed: Zhang 2018
3-generation family, 3 affected (2F, M)
M
-
China
-
-
-
-
-
3
Johan den Dunnen
+/.
-
c.34C>T
r.(?)
p.(Arg12Cys)
Parent #1
-
pathogenic (dominant)
g.44589243C>T
g.43169133C>T
-
-
CRYAA_000002
-
PubMed: Reis 2013
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
CTRCT
Pat22
PubMed: Reis 2013
-
-
-
Canada
white
-
-
-
-
1
Johan den Dunnen
+/.
-
c.34C>T
r.(?)
p.(Arg12Cys)
Unknown
-
pathogenic
g.44589243C>T
-
CRYAA(NM_000394.2):c.34C>T (p.(Arg12Cys)), CRYAA(NM_000394.4):c.34C>T (p.R12C)
-
CRYAA_000002
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
1
c.35G>T
r.(?)
p.(Arg12Leu)
Paternal (confirmed)
-
likely pathogenic
g.44589244G>T
g.43169134G>T
-
-
CRYAA_000021
-
-
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
CTRCT
-
-
-
F
no
China
Chinese
-
-
-
-
1
Zongfu Cao
+?/.
-
c.35G>T
r.(?)
p.(Arg12Leu)
Paternal (confirmed)
ACMG
likely pathogenic (dominant)
g.44589244G>T
g.43169134G>T
-
-
CRYAA_000021
ACMG PM1, PM2, PP1, PP2, PP3
PubMed: Zhuang 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
18-gene panel
CTRCT
CAT-27
PubMed: Zhuang 2019
3-generation family, 3 affected (F, 2M)
F;M
-
China
-
-
-
-
-
3
Johan den Dunnen
+/.
1
c.61C>T
r.(?)
p.(Arg21Trp)
Parent #1
-
pathogenic
g.44589270C>T
g.43169160C>T
-
-
CRYAA_000003
not in 340 control chromosomes
PubMed: Hansen 2009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CTRCT
CC00105
PubMed: Hansen 2009
4-generation family, 12 affected (4F, 8M), incomplete penetrance
F;M
-
Denmark
-
-
-
-
-
12
Lars Hansen
+/.
1
c.61C>T
r.(?)
p.(Arg21Trp)
Maternal (confirmed)
-
pathogenic
g.44589270C>T
g.43169160C>T
-
-
CRYAA_000003
not in 340 control chromosomes
PubMed: Hansen 2007
,
PubMed: Hansen 2009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CTRCT
CCMC0108
PubMed: Hansen 2007
,
PubMed: Hansen 2009
4-generation family, 5 affected Fs
F
-
Denmark
-
-
-
-
-
5
Lars Hansen
+/.
1
c.61C>T
r.(?)
p.(Arg21Trp)
Parent #1
-
pathogenic
g.44589270C>T
g.43169160C>T
-
-
CRYAA_000003
not in 340 control chromosomes
PubMed: Hansen 2009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CTRCT
CC00124
PubMed: Hansen 2009
4-generation family, 8 affected (3F, 5M)
F;M
-
Denmark
-
-
-
-
-
8
Lars Hansen
+/.
1
c.61C>T
r.(?)
p.(Arg21Trp)
Parent #1
-
pathogenic
g.44589270C>T
g.43169160C>T
130C>T
-
CRYAA_000003
not in 100 control chromosomes
PubMed: Devi 2008
-
-
Germline
-
-
MspI-
-
-
DNA
SEQ
-
-
CTRCT
-
-
affected father and daugther
-
-
India
-
-
-
-
-
2
Johan den Dunnen
+/.
1
c.61C>T
r.(?)
p.(Arg21Trp)
Paternal (confirmed)
-
pathogenic
g.44589270C>T
g.43169160C>T
-
-
CRYAA_000003
-
PubMed: Kondo 2013
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
CCTRCT
23441109-FamAPatMC41
PubMed: Kondo 2013
3-generation family, 6-affecteds (3F, 3M), PatMC41
M
-
Korea
Korean
-
-
-
-
6
Jamie Zeegers
+/.
1
c.61C>T
r.(?)
p.(Arg21Trp)
Maternal (confirmed)
-
pathogenic
g.44589270C>T
g.43169160C>T
-
-
CRYAA_000003
-
PubMed: Kondo 2013
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
CCTRCT
23441109-FamAPatMC42
PubMed: Kondo 2013
PatMC42
F
-
Korea
Korean
-
-
-
-
1
Jamie Zeegers
+/.
-
c.61C>T
r.(?)
p.(Arg21Trp)
Unknown
-
pathogenic
g.44589270C>T
g.43169160C>T
CRYAA(NM_000394.4):c.61C>T (p.R21W)
-
CRYAA_000003
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.61C>T
r.(?)
p.(Arg21Trp)
Unknown
ACMG
likely pathogenic
g.44589270C>T
g.43169160C>T
CRYAA c.61C>T p.(Arg21Trp) het
-
CRYAA_000003
heterozygous
PubMed: Lenassi 2020
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
114 genes panel tested
retinal disease
15021428
PubMed: Lenassi 2020
retrospective analysis
M
-
(United Kingdom (Great Britain))
-
-
-
-
-
1
LOVD
+?/.
-
c.61C>T
r.(?)
p.(Arg21Trp)
Unknown
ACMG
likely pathogenic
g.44589270C>T
g.43169160C>T
CRYAA c.61C>T p.(Arg21Trp) het
-
CRYAA_000003
heterozygous
PubMed: Lenassi 2020
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
144 genes panel tested
retinal disease
17026278
PubMed: Lenassi 2020
retrospective analysis
M
-
(United Kingdom (Great Britain))
-
-
-
-
-
1
LOVD
+/.
-
c.61C>T
r.(?)
p.(Arg21Trp)
Unknown
-
pathogenic
g.44589270C>T
-
CRYAA(NM_000394.4):c.61C>T (p.R21W)
-
CRYAA_000003
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.61C>T
r.(?)
p.(Arg21Trp)
Paternal (confirmed)
-
pathogenic (dominant)
g.44589270C>T
g.43169160C>T
-
-
CRYAA_000003
-
PubMed: Fernandez-Alcalde 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
CTRCT
Fam04
PubMed: Fernandez-Alcalde 2021
-
-
-
Spain
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.61C>T
r.(?)
p.(Arg21Trp)
Unknown
-
pathogenic (dominant)
g.44589270C>T
g.43169160C>T
-
-
CRYAA_000003
-
PubMed: Zhang 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
CTRCT
WCC12PatIII1
PubMed: Zhang 2018
3-generation family, 3 affected (2F, M)
M
-
China
-
-
-
-
-
3
Johan den Dunnen
+?/.
-
c.61C>T
r.(?)
p.(Arg21Trp)
Parent #1
ACMG
likely pathogenic (dominant)
g.44589270C>T
g.43169160C>T
-
-
CRYAA_000003
ACMG PM1, PM2, PP1, PP2, PP3, PP5
PubMed: Zhuang 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
18-gene panel
CTRCT
CAT-42
PubMed: Zhuang 2019
family
-
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.61C>T
r.(?)
p.(Arg21Trp)
Parent #1
-
pathogenic (dominant)
g.44589270C>T
g.43169160C>T
-
-
CRYAA_000003
-
PubMed: Sun 2017
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
gene panel
CTRCT
FamA
PubMed: Sun 2017
2-generation family, 4 affected (2F, 2M)
F;M
-
China
-
-
-
-
-
4
Johan den Dunnen
+/.
-
c.61C>T
r.(?)
p.(Arg21Trp)
Paternal (confirmed)
-
pathogenic (dominant)
g.44589270C>T
g.43169160C>T
-
-
CRYAA_000003
-
PubMed: Li 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
80 gene panel
CTRCT
Fam1PatII1
PubMed: Li 2018
2-generation family, affected father/daughter
F
-
China
-
-
-
-
-
2
Johan den Dunnen
+/.
-
c.61C>T
r.(?)
p.(Arg21Trp)
Maternal (confirmed)
-
pathogenic (dominant)
g.44589270C>T
g.43169160C>T
-
-
CRYAA_000003
-
PubMed: Fan 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
792 gene panel
CTRCT
Fam4
PubMed: Fan 2020
2-generation family, affected mother/sib
-
-
China
-
-
-
-
-
2
Johan den Dunnen
+/.
-
c.61C>T
r.(?)
p.(Arg21Trp)
Paternal (confirmed)
-
pathogenic (dominant)
g.44589270C>T
g.43169160C>T
-
-
CRYAA_000003
-
PubMed: Ma 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
CTRCT
Fam23PatI1
PubMed: Ma 2016
2-generation family, affected father/2 sons
M
-
Australia
-
-
-
-
-
3
Johan den Dunnen
+/.
1
c.61C>T
r.(?)
p.(Arg21Trp)
Maternal (confirmed)
-
pathogenic (dominant)
g.44589270C>T
g.43169160C>T
-
-
CRYAA_000003
-
PubMed: Liu 2023
rs397515625
rs397515625
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
792 gene panel
CTRCT
Fam136Pat362
PubMed: Liu 2023
2-generation family, affected mother/son
M
-
China
-
-
-
-
-
2
Johan den Dunnen
+/.
1
c.61C>T
r.(?)
p.(Arg21Trp)
Unknown
-
pathogenic (dominant)
g.44589270C>T
g.43169160C>T
-
-
CRYAA_000003
-
PubMed: Liu 2023
rs397515625
rs397515625
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
792 gene panel
CTRCT
Fam136Pat364
PubMed: Liu 2023
mother
F
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.62G>A
r.(?)
p.(Arg21Gln)
Maternal (confirmed)
-
pathogenic
g.44589271G>A
g.43169161G>A
-
-
CRYAA_000014
-
PubMed: Laurie 2013
,
Journal: Laurie 2013
-
-
Germline
yes
-
PvuII+
-
-
DNA
SEQ
-
-
CTRCT
23255486-FamCSA91PatIII2
PubMed: Laurie 2013
,
Journal: Laurie 2013
3-generation family, 5 affecteds (F, 4M), PatIII2
M
no
Australia
-
-
-
-
-
5
Kathryn Burdon
+/.
1
c.62G>A
r.(?)
p.(Arg21Gln)
Maternal (confirmed)
-
pathogenic
g.44589271G>A
g.43169161G>A
-
-
CRYAA_000014
-
PubMed: Javadiyan 2016
,
Journal: Javadiyan 2016
-
-
Germline
yes
-
-
-
-
DNA
PCR, SEQ
-
-
CCTRCT
26867756-FamCSA110Pat01
PubMed: Javadiyan 2016
,
Journal: Javadiyan 2016
4-generation family, 6-affecteds (3F, 3M), Pat01
F
no
Australia
Australian
>16y
-
-
Surgery
6
Jamie Zeegers
+/.
1
c.62G>A
r.(?)
p.(Arg21Gln)
Maternal (confirmed)
-
pathogenic
g.44589271G>A
g.43169161G>A
-
-
CRYAA_000014
-
PubMed: Javadiyan 2016
,
Journal: Javadiyan 2016
-
-
Germline
yes
-
-
-
-
DNA
PCR, SEQ
-
-
CCTRCT
26867756-FamCSA110Pat03
PubMed: Javadiyan 2016
,
Journal: Javadiyan 2016
Pat03
F
no
Australia
Australian
>46y
-
-
Surgery
1
Jamie Zeegers
+/.
1
c.62G>A
r.(?)
p.(Arg21Gln)
Maternal (confirmed)
-
pathogenic
g.44589271G>A
g.43169161G>A
-
-
CRYAA_000014
-
PubMed: Javadiyan 2016
,
Journal: Javadiyan 2016
-
-
Germline
yes
-
-
-
-
DNA
PCR, SEQ
-
-
CCTRCT
26867756-FamCSA110Pat07
PubMed: Javadiyan 2016
,
Journal: Javadiyan 2016
Pat07
M
no
Australia
Australian
-
-
-
Surgery
1
Jamie Zeegers
+/.
1
c.62G>A
r.(?)
p.(Arg21Gln)
Parent #1
-
pathogenic
g.44589271G>A
g.43169161G>A
-
-
CRYAA_000014
-
PubMed: Javadiyan 2016
,
Journal: Javadiyan 2016
-
-
Germline
yes
-
-
-
-
DNA
PCR, SEQ
-
-
CCTRCT
26867756-FamCSA110Pat04
PubMed: Javadiyan 2016
,
Journal: Javadiyan 2016
Pat04
F
no
Australia
Australian
>76y
-
-
Surgery
1
Jamie Zeegers
+/.
1
c.62G>A
r.(?)
p.(Arg21Gln)
Parent #1
-
pathogenic
g.44589271G>A
g.43169161G>A
-
-
CRYAA_000014
-
PubMed: Javadiyan 2016
,
Journal: Javadiyan 2016
-
-
Germline
yes
-
-
-
-
DNA
PCR, SEQ
-
-
CCTRCT
26867756-FamCSA110Pat05
PubMed: Javadiyan 2016
,
Journal: Javadiyan 2016
Pat05
M
no
Australia
Australian
>61y
-
-
Surgery
1
Jamie Zeegers
+/.
1
c.62G>A
r.(?)
p.(Arg21Gln)
Parent #1
-
pathogenic
g.44589271G>A
g.43169161G>A
-
-
CRYAA_000014
-
PubMed: Javadiyan 2016
,
Journal: Javadiyan 2016
-
-
Germline
yes
-
-
-
-
DNA
PCR, SEQ
-
-
Healthy/Control
26867756-FamCSA110Pat02
PubMed: Javadiyan 2016
,
Journal: Javadiyan 2016
Pat02
M
-
Australia
Australian
>20y
-
-
-
1
Jamie Zeegers
+/.
1
c.62G>T
r.(?)
p.(Arg21Leu)
Parent #1
-
pathogenic
g.44589271G>T
g.43169161G>T
62C>T
-
CRYAA_000008
not in 192 control chromosomes
PubMed: Graw 2006
-
-
Germline
-
-
HpaII-
-
-
DNA
SEQ
-
-
CTRCT
-
-
-
-
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.62G>T
r.(?)
p.(Arg21Leu)
Unknown
ACMG
likely pathogenic
g.44589271G>T
g.43169161G>T
CRYAA c.62G>T p.(Arg21Leu) het
-
CRYAA_000008
heterozygous
PubMed: Lenassi 2020
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
114 genes panel tested
retinal disease
15007971
PubMed: Lenassi 2020
retrospective analysis
F
-
(United Kingdom (Great Britain))
-
-
-
-
-
1
LOVD
+?/.
-
c.142T>G
r.(?)
p.(Tyr48Asp)
Paternal (confirmed)
-
likely pathogenic (dominant)
g.44589351T>G
g.43169241T>G
-
-
CRYAA_000034
-
PubMed: Ma 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
CTRCT
Fam16PatI2
PubMed: Ma 2016
3-generation family, 4 affected (2F, 2M)
F
-
Australia
-
-
-
-
-
4
Johan den Dunnen
+/.
1
c.145C>T
r.(?)
p.(Arg49Cys)
Parent #1
-
pathogenic
g.44589354C>T
g.43169244C>T
-
-
CRYAA_000004
mapped by linkage (LOD 3.3)
PubMed: Mackay 2003
,
OMIM:var0003
-
rs74315441
Germline
-
-
AciI-
-
-
DNA
SEQ
-
-
CTRCT
-
-
4-generation family, 12 affecteds
-
-
United States
white
-
-
-
-
12
Johan den Dunnen
+/.
1
c.145C>T
r.(?)
p.(Arg49Cys)
Parent #1
-
pathogenic
g.44589354C>T
g.43169244C>T
155C>T
-
CRYAA_000004
-
PubMed: Hansen 2009
-
rs74315441
Germline
-
-
AciI-
-
-
DNA
SEQ
-
-
CTRCT
CC00174
PubMed: Hansen 2009
2-generation family, affected mother and daugther
F
-
-
-
-
-
-
-
2
Lars Hansen
+/.
1
c.145C>T
r.(145c>u)
p.Arg49Cys
Unknown
-
NA
g.44589354C>T
g.43169244C>T
-
-
CRYAA_000004
expression cloning lens epithelial cells abnormal localization to nucleus, failed to protect from staurosporine-induced apoptotic cell death
PubMed: Mackay 2003
-
rs74315441
In vitro (cloned)
-
-
-
-
-
DNA
SEQ
leukocytes
test known APC variant (relative)
FAP1
-
-
-
F
-
Germany
-
-
-
yes (pedigree)
-
1
Stefan Aretz
+/.
-
c.145C>T
r.(?)
p.(Arg49Cys)
Parent #1
-
pathogenic
g.44589354C>T
g.43169244C>T
-
-
CRYAA_000004
1 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs74315441
Germline
-
1/2795 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
1
Mohammed Faruq
+/.
-
c.145C>T
r.(?)
p.(Arg49Cys)
Both (homozygous)
-
pathogenic (recessive)
g.44589354C>T
g.43169244C>T
-
-
CRYAA_000004
-
PubMed: Patel 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
MCOP
F14‐M
PubMed: Patel 2017
family
-
yes
Saudi Arabia
-
-
-
-
-
1
LOVD
+?/.
-
c.145C>T
r.(?)
p.(Arg49Cys)
Maternal (confirmed)
-
likely pathogenic (dominant)
g.44589354C>T
g.43169244C>T
-
-
CRYAA_000004
-
PubMed: Berry 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
WES
CTRCT
FamAPatIV9
PubMed: Berry 2020
5-generation family, 19 (13F, 6M) affected
M
-
United Kingdom (Great Britain)
-
-
-
-
-
19
Johan den Dunnen
-?/.
-
c.154C>T
r.(?)
p.(Leu52Phe)
Unknown
-
likely benign
g.44589363C>T
-
CRYAA(NM_000394.3):c.154C>T (p.L52F)
-
CRYAA_000023
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.(160C>T)
r.160c>u
p.Arg54Cys
Paternal (confirmed)
-
pathogenic
g.44589369C>T
g.43169259C>T
mouse
-
CRYAA_000000
nm3365 mouse, spontaneous mutant
PubMed: Xia 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CTRCT
-
PubMed: Xia 2006
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.(160C>T)
r.160c>u
p.Arg54Cys
Maternal (confirmed)
-
pathogenic
g.44589369C>T
g.43169259C>T
mouse
-
CRYAA_000000
nm3365 mouse, spontaneous mutant
PubMed: Xia 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CTRCT
-
PubMed: Xia 2006
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.160C>T
r.(?)
p.(Arg54Cys)
Both (homozygous)
-
pathogenic (recessive)
g.44589369C>T
g.43169259C>T
-
-
CRYAA_000009
-
PubMed: Khan 2007
,
PubMed: Khan 2015
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
CTRCT
FamPatIV5
PubMed: Khan 2007
,
PubMed: Khan 2015
4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents
F
yes
Saudi Arabia
-
-
-
-
-
4
Johan den Dunnen
+/.
1
c.160C>T
r.(?)
p.(Arg54Cys)
Both (homozygous)
-
pathogenic (recessive)
g.44589369C>T
g.43169259C>T
-
-
CRYAA_000009
-
PubMed: Khan 2007
,
PubMed: Khan 2015
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
CTRCT
FamPatIV6
PubMed: Khan 2007
,
PubMed: Khan 2015
brother of 17937925-Fam.IV5
M
yes
Saudi Arabia
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.160C>T
r.(?)
p.(Arg54Cys)
Both (homozygous)
-
pathogenic (recessive)
g.44589369C>T
g.43169259C>T
-
-
CRYAA_000009
-
PubMed: Khan 2007
,
PubMed: Khan 2015
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
CTRCT
FamPatIV12
PubMed: Khan 2007
,
PubMed: Khan 2015
sister of 17937925-Fam.IV5
F
yes
Saudi Arabia
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.160C>T
r.(?)
p.(Arg54Cys)
Both (homozygous)
-
pathogenic (recessive)
g.44589369C>T
g.43169259C>T
-
-
CRYAA_000009
-
PubMed: Khan 2007
PubMed: Khan 2007
,
PubMed: Khan 2015
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
CTRCT
FamPatIV13
PubMed: Khan 2007
,
PubMed: Khan 2015
nephew of 17937925-Fam.IV5
M
yes
Saudi Arabia
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.160C>T
r.(?)
p.(Arg54Cys)
Parent #1
-
pathogenic
g.44589369C>T
g.43169259C>T
230C>T
-
CRYAA_000009
not in 100 control chromosomes
PubMed: Devi 2008
-
-
Germline
-
-
HpyCH4V+
-
-
DNA
SEQ
-
-
CTRCT
-
-
affected mother and son
-
-
India
-
-
-
-
-
2
Johan den Dunnen
+/.
-
c.160C>T
r.(?)
p.(Arg54Cys)
Parent #1
ACMG
pathogenic (dominant)
g.44589369C>T
g.43169259C>T
-
-
CRYAA_000000
-
PubMed: Javadiyan 2017
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
CTRCT
CRVEEH111
PubMed: Javadiyan 2017
3-generation family, 4 affected (2F, 2M)
F;M
-
Australia
-
-
-
-
-
4
Johan den Dunnen
+/.
1
c.160C>T
r.(?)
p.(Arg54Cys)
Parent #1
-
pathogenic (!)
g.44589369C>T
g.43169259C>T
-
-
CRYAA_000000
incomplete penetrance
PubMed: Liu 2023
rs397515623
rs397515623
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
792 gene panel
CTRCT
Fam6Pat22
PubMed: Liu 2023
2-generation family
F
-
China
-
-
-
-
-
2
Johan den Dunnen
+/.
1
c.160C>T
r.(?)
p.(Arg54Cys)
Parent #1
-
pathogenic (!)
g.44589369C>T
g.43169259C>T
-
-
CRYAA_000000
incomplete penetrance
PubMed: Liu 2023
rs397515623
rs397515623
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
792 gene panel
Healthy/Control
Fam6Pat23
PubMed: Liu 2023
relative
F
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.(161G>A)
r.(?)
p.(Arg54His)
Paternal (confirmed)
-
pathogenic
g.44589370G>A
g.43169260G>A
mouse
-
CRYAA_000000
lop18 mouse
PubMed: Chang 1999
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CTRCT
-
PubMed: Chang 1999
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.(161G>A)
r.(?)
p.(Arg54His)
Maternal (confirmed)
-
pathogenic
g.44589370G>A
g.43169260G>A
mouse
-
CRYAA_000000
lop18 mouse
PubMed: Chang 1999
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CTRCT
-
PubMed: Chang 1999
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.161G>A
r.(?)
p.(Arg54His)
Unknown
-
VUS
g.44589370G>A
-
CRYAA(NM_000394.3):c.161G>A (p.R54H)
-
CRYAA_000000
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.161G>C
r.(?)
p.(Arg54Pro)
Parent #1
-
pathogenic
g.44589370G>C
g.43169260G>C
-
-
CRYAA_000019
-
PubMed: Dongmei 2012
-
-
Germline
yes
-
-
-
-
DNA
PCR
-
-
CCTRCT
23288997-FamPatIII5
PubMed: Dongmei 2012
3-generation family, 4 affecteds (2F, 2M)
F
-
China
Chinese
>45y
-
-
-
4
Jamie Zeegers
+/.
1
c.161G>C
r.(?)
p.(Arg54Pro)
Parent #1
-
pathogenic
g.44589370G>C
g.43169260G>C
-
-
CRYAA_000019
-
PubMed: Dongmei 2012
-
-
Germline
yes
-
-
-
-
DNA
PCR
-
-
CCTRCT
23288997-FamPatII7
PubMed: Dongmei 2012
PatII7
M
-
China
Chinese
>43y
-
-
-
1
Jamie Zeegers
+/.
1
c.161G>C
r.(?)
p.(Arg54Pro)
Parent #1
-
pathogenic
g.44589370G>C
g.43169260G>C
-
-
CRYAA_000019
-
PubMed: Dongmei 2012
-
-
Germline
yes
-
-
-
-
DNA
PCR
-
-
CCTRCT
23288997-FamPatIII6
PubMed: Dongmei 2012
PatIII6
M
-
China
Chinese
>13y
-
-
-
1
Jamie Zeegers
+/.
1
c.161G>C
r.(?)
p.(Arg54Pro)
Parent #1
-
pathogenic
g.44589370G>C
g.43169260G>C
-
-
CRYAA_000019
-
PubMed: Dongmei 2012
-
-
Germline
yes
-
-
-
-
DNA
PCR
-
-
CCTRCT
23288997-FamPatIII2
PubMed: Dongmei 2012
PatIII2
F
-
China
Chinese
-
-
-
-
1
Jamie Zeegers
+/.
-
c.161G>C
r.(?)
p.(Arg54Pro)
Both (homozygous)
-
pathogenic (recessive)
g.44589370G>C
g.43169260G>C
-
-
CRYAA_000019
-
PubMed: Patel 2017
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
CTRCT
10DG1375
PubMed: Patel 2017
family
-
-
-
-
-
-
-
-
2
Johan den Dunnen
?/.
-
c.188A>T
r.(?)
p.(Glu63Val)
Unknown
-
VUS
g.44589397A>T
-
CRYAA(NM_000394.2):c.188A>T (p.(Glu63Val))
-
CRYAA_000039
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
1i
c.189+11dup
r.(=)
p.(=)
Maternal (confirmed)
-
benign
g.44589409dup
g.43169299dup
IVS1+10insG
-
CRYAA_000016
-
PubMed: Santhiya 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CTRCT
-
-
4-generation family, 3 affected Fs, 1 male
F
-
India
-
-
-
-
-
4
Johan den Dunnen
?/.
1i
c.189+57G>A
r.(=)
p.(=)
Unknown
-
VUS
g.44589455G>A
g.43169345G>A
189+56G>A
-
CRYAA_000012
-
PubMed: Pang 2002
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
-
-
-
China
-
-
-
-
-
2
Johan den Dunnen
?/.
1i
c.189+171C>T
r.(=)
p.(=)
Unknown
-
VUS
g.44589569C>T
g.43169459C>T
189+170C>T
-
CRYAA_000011
not in controls
PubMed: Pang 2002
-
rs11700709
Germline
-
-
-
-
-
DNA
SEQ
-
-
CTRCT
-
-
-
-
-
China
-
-
-
-
-
1
Johan den Dunnen
-/.
1i
c.190-36dup
r.(=)
p.(=)
Maternal (confirmed)
-
benign
g.44590591dup
g.43170481dup
IVS1-36insC
-
CRYAA_000017
-
PubMed: Santhiya 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CTRCT
-
-
4-generation family, 3 affected Fs, 1 male
F
-
India
-
-
-
-
-
4
Johan den Dunnen
+/.
-
c.193C>T
r.(?)
p.(Arg65Ter)
Unknown
-
pathogenic
g.44590630C>T
g.43170520C>T
-
-
CRYAA_000022
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
2
c.213C>A
r.(?)
p.Phe71Leu
Unknown
-
NA
g.44590650C>A
g.43170540C>A
-
-
CRYAA_000015
tested in vitro in several assays
PubMed: Bhagyalaxmi 2009
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
2
c.213C>A
r.(?)
p.(Phe71Leu)
Paternal (inferred)
-
pathogenic
g.44590650C>A
g.43170540C>A
-
-
CRYAA_000015
not in 530 control chromosomes; 3/711 ARC patients
PubMed: Bhagyalaxmi 2009
-
-
Germline
-
3/1422
-
-
-
DNA
SSCA, SEQ
-
-
CTRCT
-
-
3 unrelated cases
-
-
India
-
-
-
-
-
3
Johan den Dunnen
+/.
2
c.213C>A
r.(?)
p.(Phe71Leu)
Maternal (inferred)
-
pathogenic
g.44590650C>A
g.43170540C>A
-
-
CRYAA_000015
-
PubMed: Bhagyalaxmi 2009
-
-
Germline
-
3/1422
-
-
-
DNA
SSCA, SEQ
-
-
CTRCT
-
-
3 unrelated cases
-
-
India
-
-
-
-
-
3
Johan den Dunnen
-?/.
-
c.213C>T
r.(?)
p.(Phe71=)
Unknown
-
likely benign
g.44590650C>T
-
CRYAA(NM_000394.3):c.213C>T (p.F71=)
-
CRYAA_000024
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.235C>A
r.(?)
p.(His79Asn)
Unknown
-
VUS
g.44590672C>A
-
CRYAA(NM_000394.3):c.235C>A (p.H79N)
-
CRYAA_000025
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.253C>T
r.(?)
p.(Leu85Phe)
Parent #1
ACMG
likely pathogenic (dominant)
g.44590690C>T
g.43170580C>T
-
-
CRYAA_000036
ACMG PM1, PM2, PP1, PP3
PubMed: Khidiyatova 2023
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
gene panel
CTRCT
Fam1
PubMed: Khidiyatova 2023
family, 2 affected
-
-
Russia
Tatar
-
-
-
-
2
Johan den Dunnen
+?/.
-
c.275A>G
r.(?)
p.(Asp92Gly)
Unknown
-
likely pathogenic
g.44590712A>G
g.43170602A>G
c.275A-->G; p.Asp92Gly
-
CRYAA_000027
no Sanger sequencing; heterozygous
PubMed: Patel 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
-
GLC1A
287
PubMed: Patel 2019
-
?
-
United Kingdom (Great Britain)
-
-
-
-
-
1
LOVD
+?/.
-
c.291C>G
r.(?)
p.(His97Gln)
Parent #1
ACMG
likely pathogenic (dominant)
g.44590728C>G
g.43170618C>G
-
-
CRYAA_000037
ACMG PM1, PM2, PP2 ,PP3
PubMed: Khidiyatova 2023
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
gene panel
CTRCT
Fam2
PubMed: Khidiyatova 2023
patient
-
-
Russia
Bashkir
-
-
-
-
1
Johan den Dunnen
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