Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA): description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change: description of variant at RNA level (following HGVS recommendations).
- r.123c>u
- r.? = unknown
- r.(?) = RNA not analysed but probably transcribed copy of DNA variant
- r.spl? = RNA not analysed but variant probably affects splicing
- r.(spl?) = RNA not analysed but variant may affect splicing
- r.0? = change expected to abolish transcription
Protein: description of variant at protein level (following HGVS recommendations).
- p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
- p.Arg345Pro = change derived from RNA analysis
- p.? = unknown effect
- p.0? = probably no protein produced
P-domain: region/domain protein affected
Allele: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method: The method used for the clinical classification of this variant.
All options:
- ACMG
- ACGS
- EAHAD-CFDB
- ENIGMA
- IARC
- InSiGHT
- kConFab
- other
Clinical classification: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
- pathogenic
- pathogenic (dominant)
- pathogenic (recessive)
- pathogenic (!)
- pathogenic (maternal)
- pathogenic (paternal)
- likely pathogenic
- likely pathogenic (dominant)
- likely pathogenic (recessive)
- likely pathogenic (!)
- likely pathogenic (maternal)
- likely pathogenic (paternal)
- VUS
- VUS (!)
- likely benign
- likely benign (dominant)
- likely benign (recessive)
- likely benign (!)
- likely benign (maternal)
- likely benign (paternal)
- benign
- benign (dominant)
- benign (recessive)
- benign (!)
- benign (maternal)
- benign (paternal)
- conflicting
- association
- NA
DNA change (genomic) (hg19): HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38): HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN: description of the variant according to ISCN nomenclature
DB-ID: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID: ID of variant in ClinVar database
dbSNP ID: the dbSNP ID
Origin: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
- Germline
- De novo
- Germline/De novo (untested)
- Somatic
- Uniparental disomy
- Uniparental disomy, maternal allele
- Uniparental disomy, paternal allele
- CLASSIFICATION record
- SUMMARY record
- In vitro (cloned)
- In silico
- animal model
- Artefact
- DUPLICATE record
- Unknown
- Not applicable
Segregation: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
- ? = unknown
- yes = segregates with phenotype
- no = does not segregate with phenotype
- - = not applicable
Frequency: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator.
NOTE: to get VIP status ask the curator.
Methylation: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
- DNA
- RNA = RNA (cDNA)
- protein
- ? = unknown
Technique: technique(s) used to identify the sequence variant.
All options:
- ? = unknown
- ARMS = amplification refractory mutation system
- arrayCGH = array for Comparative Genomic Hybridisation
- arrayMET = array for methylation analysis
- arraySEQ = array for resequencing
- arraySNP = array for SNP typing
- arrayCNV = array for Copy Number Variation (SNP and CNV probes)
- ASO = allele-specific oligo hybridisation
- BESS = Base Excision Sequence Scanning
- CMC = Chemical Mismatch Cleavage
- COBRA = Combined Bisulfite Restriction Analysis
- CSCE = Conformation Sensitive Capillary Electrophoresis
- CSGE = Conformation Sensitive Gel Electrophoresis
- ddF = dideoxy Fingerprinting
- DGGE = Denaturing-Gradient Gel-Electrophoresis
- DHPLC = Denaturing High-Performance Liquid Chromatography
- DOVAM = Detection Of Virtually All Mutations (SSCA variant)
- DSCA = Double-Strand DNA Conformation Analysis
- DSDI = Detection Small Deletions and Insertions
- EMC = Enzymatic Mismatch Cleavage
- expr = expression analysis
- FISH = Fluorescent In-Situ Hybridisation
- FISHf = fiberFISH
- HD = HeteroDuplex analysis
- HPLC = High-Performance Liquid Chromatography
- IEF = IsoElectric Focussing
- IHC = Immuno-Histo-Chemistry
- Invader = Invader assay
- MAPH = Multiplex Amplifiable Probe Hybridisation
- MAQ = Multiplex Amplicon Quantification
- MCA = Melting Curve Analysis, high-resolution (HRMA)
- microscope = microscopic analysis (karyotype)
- microsat = microsatellite genotyping
- minigene = expression minigene construct
- MIP = Molecular Inversion Probe amplification
- MIPsm = single molecule Molecular Inversion Probe amplification
- MLPA = Multiplex Ligation-dependent Probe Amplification
- MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
- MS = mass spectrometry
- Northern = Northern blotting
- NUC = nuclease digestion (RNAseT1, S1)
- OM = optical mapping
- PAGE = Poly-Acrylamide Gel-Electrophoresis
- PCR = Polymerase Chain Reaction
- PCRdd = PCR, digital droplet
- PCRdig = PCR + restriction enzyme digestion
- PCRh = PCR, haloplex
- PCRlr = PCR, long-range
- PCRm = PCR, multiplex
- PCRms = PCR, methylation sensitive
- PCRq = PCR, quantitative (qPCR)
- PCRrp = PCR, repeat-primed (RP-PCR)
- PCRsqd = PCR, semi-quantitative duplex
- PE = primer extension (APEX, SNaPshot)
- PEms = primer extension, methylation-sensitive single-nucleotide
- PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
- PTT = Protein Truncation Test
- RFLP = Restriction Fragment Length Polymorphisms
- RT-PCR = Reverse Transcription and PCR
- RT-PCRq = Reverse Transcription and PCR, quantitative
- SBE = Single Base Extension
- SEQ = SEQuencing (Sanger)
- SEQb = bisulfite SEQuencing
- SEQp = pyroSequencing
- SEQms = sequencing, methylation specific
- SEQ-ON = next-generation sequencing - Oxford Nanopore
- SEQ-NG = next-generation sequencing
- SEQ-NG-RNA = next-generation sequencing RNA
- SEQ-NG-H = next-generation sequencing - Helicos
- SEQ-NG-I = next-generation sequencing - Illumina/Solexa
- SEQ-NG-IT = next-generation sequencing - Ion Torrent
- SEQ-NG-R = next-generation sequencing - Roche/454
- SEQ-NG-S = next-generation sequencing - SOLiD
- SEQ-PB = next-generation sequencing - Pacific Biosciences
- SNPlex = SNPlex
- Southern = Southern blotting
- SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
- SSCAf = fluorescent SSCA (SSCP)
- STR = Short Tandem Repeat
- TaqMan = TaqMan assay
- Western = Western blotting
- - = not applicable
Tissue: tissue type used for analysis
Remarks: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks: remarks about the individual
Gender: gender individual
All options:
- ? = unknown
- - = not applicable
- F = female
- M = male
- rF = raised as female
- rM = raised as male
Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
- no = non-consanguineous parents
- yes = consanguineous parents
- likely = consanguinity likely
- ? = unknown
- - = not applicable
Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
- ? (unknown)
- - (not applicable)
- Afghanistan
- (Afghanistan)
- Albania
- (Albania)
- Algeria
- (Algeria)
- American Samoa
- (American Samoa)
- Andorra
- (Andorra)
- Angola
- (Angola)
- Anguilla
- (Anguilla)
- Antarctica
- (Antarctica)
- Antigua and Barbuda
- (Antigua and Barbuda)
- Argentina
- (Argentina)
- Armenia
- (Armenia)
- Aruba
- (Aruba)
- Australia
- (Australia)
- Austria
- (Austria)
- Azerbaijan
- (Azerbaijan)
- Bahamas
- (Bahamas)
- Bahrain
- (Bahrain)
- Bangladesh
- (Bangladesh)
- Barbados
- (Barbados)
- Belarus
- (Belarus)
- Belgium
- (Belgium)
- Belize
- (Belize)
- Benin
- (Benin)
- Bermuda
- (Bermuda)
- Bhutan
- (Bhutan)
- Bolivia
- (Bolivia)
- Bosnia and Herzegovina
- (Bosnia and Herzegovina)
- Botswana
- (Botswana)
- Bouvet Island
- (Bouvet Island)
- Brazil
- (Brazil)
- British Indian Ocean Territory
- (British Indian Ocean Territory)
- Brunei Darussalam
- (Brunei Darussalam)
- Bulgaria
- (Bulgaria)
- Burkina Faso
- (Burkina Faso)
- Burundi
- (Burundi)
- Cambodia
- (Cambodia)
- Cameroon
- (Cameroon)
- Canada
- (Canada)
- Cape Verde
- (Cape Verde)
- Cayman Islands
- (Cayman Islands)
- Central African Republic
- (Central African Republic)
- Central Europe
- Chad
- (Chad)
- Chile
- (Chile)
- China
- (China)
- Christmas Island
- (Christmas Island)
- Cocos (Keeling Islands)
- (Cocos (Keeling Islands))
- Colombia
- (Colombia)
- Comoros
- (Comoros)
- Congo
- (Congo)
- Cook Islands
- (Cook Islands)
- Costa Rica
- (Costa Rica)
- Cote D'Ivoire (Ivory Coast)
- (Cote D'Ivoire (Ivory Coast))
- Croatia (Hrvatska)
- (Croatia (Hrvatska))
- Cuba
- (Cuba)
- Cyprus
- (Cyprus)
- Czech Republic
- (Czech Republic)
- Denmark
- (Denmark)
- Djibouti
- (Djibouti)
- Dominica
- (Dominica)
- Dominican Republic
- (Dominican Republic)
- East Timor
- (East Timor)
- Ecuador
- (Ecuador)
- Egypt
- (Egypt)
- El Salvador
- (El Salvador)
- England
- (England)
- Equatorial Guinea
- (Equatorial Guinea)
- Eritrea
- (Eritrea)
- Estonia
- (Estonia)
- Ethiopia
- (Ethiopia)
- Falkland Islands (Malvinas)
- (Falkland Islands (Malvinas))
- Faroe Islands
- (Faroe Islands)
- Fiji
- (Fiji)
- Finland
- (Finland)
- France
- (France)
- Gabon
- (Gabon)
- Gambia
- (Gambia)
- Georgia
- (Georgia)
- Germany
- (Germany)
- Ghana
- (Ghana)
- Gibraltar
- (Gibraltar)
- Greece
- (Greece)
- Greenland
- (Greenland)
- Grenada
- (Grenada)
- Guadeloupe
- (Guadeloupe)
- Guam
- (Guam)
- Guatemala
- (Guatemala)
- Guiana, French
- (Guiana, French)
- Guinea
- (Guinea)
- Guinea-Bissau
- (Guinea-Bissau)
- Guyana
- (Guyana)
- Haiti
- (Haiti)
- Heard and McDonald Islands
- (Heard and McDonald Islands)
- Honduras
- (Honduras)
- Hong Kong
- (Hong Kong)
- Hungary
- (Hungary)
- Iceland
- (Iceland)
- India
- (India)
- Indonesia
- (Indonesia)
- Iran
- (Iran)
- Iraq
- (Iraq)
- Ireland
- (Ireland)
- Israel
- (Israel)
- Italy
- (Italy)
- Jamaica
- (Jamaica)
- Japan
- (Japan)
- Jordan
- (Jordan)
- Kazakhstan
- (Kazakhstan)
- Kenya
- (Kenya)
- Kiribati
- (Kiribati)
- Korea
- (Korea)
- Korea, North (People's Republic)
- (Korea, North (People's Republic))
- Korea, South (Republic)
- (Korea, South (Republic))
- Kosovo
- (Kosovo)
- Kuwait
- (Kuwait)
- Kyrgyzstan (Kyrgyz Republic)
- (Kyrgyzstan (Kyrgyz Republic))
- Laos
- (Laos)
- Latvia
- (Latvia)
- Lebanon
- (Lebanon)
- Lesotho
- (Lesotho)
- Liberia
- (Liberia)
- Libya
- (Libya)
- Liechtenstein
- (Liechtenstein)
- Lithuania
- (Lithuania)
- Luxembourg
- (Luxembourg)
- Macau
- (Macau)
- Macedonia
- (Macedonia)
- Madagascar
- (Madagascar)
- Malawi
- (Malawi)
- Malaysia
- (Malaysia)
- Maldives
- (Maldives)
- Mali
- (Mali)
- Mallorca
- (Mallorca)
- Malta
- (Malta)
- Marshall Islands
- (Marshall Islands)
- Martinique
- (Martinique)
- Mauritania
- (Mauritania)
- Mauritius
- (Mauritius)
- Mayotte
- (Mayotte)
- Mexico
- (Mexico)
- Micronesia
- (Micronesia)
- Moldova
- (Moldova)
- Monaco
- (Monaco)
- Mongolia
- (Mongolia)
- Montserrat
- (Montserrat)
- Morocco
- (Morocco)
- Mozambique
- (Mozambique)
- Myanmar
- (Myanmar)
- Namibia
- (Namibia)
- Nauru
- (Nauru)
- Nepal
- (Nepal)
- Netherlands
- (Netherlands)
- Netherlands Antilles
- (Netherlands Antilles)
- Neutral Zone (Saudia Arabia/Iraq)
- (Neutral Zone (Saudia Arabia/Iraq))
- New Caledonia
- (New Caledonia)
- New Zealand
- (New Zealand)
- Nicaragua
- (Nicaragua)
- Niger
- (Niger)
- Nigeria
- (Nigeria)
- Niue
- (Niue)
- Norfolk Island
- (Norfolk Island)
- Northern Ireland
- (Northern Ireland)
- Northern Mariana Islands
- (Northern Mariana Islands)
- Norway
- (Norway)
- Oman
- (Oman)
- Pakistan
- (Pakistan)
- Palau
- (Palau)
- Palestine
- (Palestine)
- Panama
- (Panama)
- Papua New Guinea
- (Papua New Guinea)
- Paraguay
- (Paraguay)
- Peru
- (Peru)
- Philippines
- (Philippines)
- Pitcairn
- (Pitcairn)
- Poland
- (Poland)
- Polynesia, French
- (Polynesia, French)
- Portugal
- (Portugal)
- Puerto Rico
- (Puerto Rico)
- Qatar
- (Qatar)
- Reunion
- (Reunion)
- Romania
- (Romania)
- Russia
- (Russia)
- Russian Federation
- (Russian Federation)
- Rwanda
- (Rwanda)
- S. Georgia and S. Sandwich Isls.
- (S. Georgia and S. Sandwich Isls.)
- Saint Kitts and Nevis
- (Saint Kitts and Nevis)
- Saint Lucia
- (Saint Lucia)
- Saint Vincent and The Grenadines
- (Saint Vincent and The Grenadines)
- Samoa
- (Samoa)
- San Marino
- (San Marino)
- Sao Tome and Principe
- (Sao Tome and Principe)
- Saudi Arabia
- (Saudi Arabia)
- Scotland
- (Scotland)
- Senegal
- (Senegal)
- Serbia
- (Serbia)
- Seychelles
- (Seychelles)
- Sierra Leone
- (Sierra Leone)
- Singapore
- (Singapore)
- Slovakia (Slovak Republic)
- (Slovakia (Slovak Republic))
- Slovenia
- (Slovenia)
- Solomon Islands
- (Solomon Islands)
- Somalia
- (Somalia)
- South Africa
- (South Africa)
- Southern Territories, French
- (Southern Territories, French)
- Soviet Union (former)
- (Soviet Union (former))
- Spain
- (Spain)
- Sri Lanka
- (Sri Lanka)
- St. Helena, Ascension and Tristan da
- Cunha
- (St. Helena, Ascension and Tristan da
- Cunha)
- St. Pierre and Miquelon
- (St. Pierre and Miquelon)
- Sudan
- (Sudan)
- Sudan, South
- (Sudan, South)
- Suriname
- (Suriname)
- Svalbard and Jan Mayen Islands
- (Svalbard and Jan Mayen Islands)
- Swaziland
- (Swaziland)
- Sweden
- (Sweden)
- Switzerland
- (Switzerland)
- Syria
- (Syria)
- Taiwan
- (Taiwan)
- Tajikistan
- (Tajikistan)
- Tanzania
- (Tanzania)
- Thailand
- (Thailand)
- Togo
- (Togo)
- Tokelau
- (Tokelau)
- Tonga
- (Tonga)
- Trinidad and Tobago
- (Trinidad and Tobago)
- Tunisia
- (Tunisia)
- Turkey
- (Turkey)
- Turkmenistan
- (Turkmenistan)
- Turks and Caicos Islands
- (Turks and Caicos Islands)
- Tuvalu
- (Tuvalu)
- Uganda
- (Uganda)
- Ukraine
- (Ukraine)
- United Arab Emirates
- (United Arab Emirates)
- United Kingdom (Great Britain)
- (United Kingdom (Great Britain))
- United States
- (United States)
- Uruguay
- (Uruguay)
- US Minor Outlying Islands
- (US Minor Outlying Islands)
- Uzbekistan
- (Uzbekistan)
- Vanuatu
- (Vanuatu)
- Vatican City State (Holy See)
- (Vatican City State (Holy See))
- Venezuela
- (Venezuela)
- Viet Nam
- (Viet Nam)
- Virgin Islands (British)
- (Virgin Islands (British))
- Virgin Islands (US)
- (Virgin Islands (US))
- Wales
- (Wales)
- Wallis and Futuna Islands
- (Wallis and Futuna Islands)
- Western Sahara
- (Western Sahara)
- Yemen
- (Yemen)
- Yugoslavia
- (Yugoslavia)
- Zaire
- (Zaire)
- Zambia
- (Zambia)
- Zimbabwe
- (Zimbabwe)
Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death: age at which the individual deceased (when applicable):
- 35y = 35 years
- >43y = still alive at 43y
- 04y08m = 4 years and 8 months
- 00y00m01d12h = 1 day and 12 hours
- 18y? = around 18 years
- 30y-40y = between 30 and 40 years
- >54y = older than 54
- ? = unknown
VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator.
NOTE: to get VIP status ask the curator.
Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment: treatment of patient

 Effect
|

 Exon
|

 DNA change (cDNA)
|

 RNA change
|

 Protein
|

 P-domain
|

 Allele
|

 Classification method
|

 Clinical classification
|

 DNA change (genomic) (hg19)
|

 DNA change (hg38)
|

 Published as
|

 ISCN
|

 DB-ID
|
 Variant remarks
|

 Reference
|

 ClinVar ID
|

 dbSNP ID
|

 Origin
|

 Segregation
|

 Frequency
|

 Re-site
|

 VIP
|

 Methylation
|

 Template
|

 Technique
|

 Tissue
|
 Remarks
|

 Disease
|

 ID_report
|

 Reference
|
 Remarks
|

 Gender
|

 Consanguinity
|

 Country
|

 Population
|

 Age at death
|

 VIP
|

 Data_av
|

 Treatment
|

 Panel size
|

 Owner
|
-/. |
- |
c.-4860G>T |
r.(?) |
p.(=) |
- |
Unknown |
- |
benign |
g.76834722G>T |
g.77123676G>T |
CAPN5(NM_004055.5):c.1741-12G>T |
- |
CAPN5_000038 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
?/. |
- |
c.-4801C>A |
r.(?) |
p.(=) |
- |
Unknown |
- |
VUS |
g.76834781C>A |
g.77123735C>A |
CAPN5(NM_004055.4):c.1788C>A (p.H596Q) |
- |
CAPN5_000039 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-?/. |
- |
c.-4771C>T |
r.(?) |
p.(=) |
- |
Unknown |
- |
likely benign |
g.76834811C>T |
- |
CAPN5(NM_004055.4):c.1818C>T (p.A606=) |
- |
CAPN5_000059 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-?/. |
- |
c.-4752C>T |
r.(?) |
p.(=) |
- |
Unknown |
- |
likely benign |
g.76834830C>T |
- |
CAPN5(NM_004055.5):c.1837C>T (p.R613W) |
- |
CAPN5_000073 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-?/. |
- |
c.-4745G>A |
r.(?) |
p.(=) |
- |
Unknown |
- |
likely benign |
g.76834837G>A |
g.77123791G>A |
CAPN5(NM_004055.5):c.1844G>A (p.R615Q) |
- |
CAPN5_000041 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-/. |
- |
c.-4723C>T |
r.(?) |
p.(=) |
- |
Unknown |
- |
benign |
g.76834859C>T |
g.77123813C>T |
CAPN5(NM_004055.5):c.1866C>T (p.N622=) |
- |
CAPN5_000033 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-?/. |
- |
c.-4702G>A |
r.(?) |
p.(=) |
- |
Unknown |
- |
likely benign |
g.76834880G>A |
g.77123834G>A |
CAPN5(NM_004055.4):c.1887G>A (p.V629=) |
- |
CAPN5_000014 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-/. |
- |
c.-4695C>A |
r.(?) |
p.(=) |
- |
Unknown |
- |
benign |
g.76834887C>A |
g.77123841C>A |
CAPN5(NM_004055.4):c.1894C>A (p.L632I), CAPN5(NM_004055.5):c.1894C>A (p.L632I) |
- |
CAPN5_000015 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-?/. |
- |
c.-4695C>A |
r.(?) |
p.(=) |
- |
Unknown |
- |
likely benign |
g.76834887C>A |
g.77123841C>A |
CAPN5(NM_004055.4):c.1894C>A (p.L632I), CAPN5(NM_004055.5):c.1894C>A (p.L632I) |
- |
CAPN5_000015 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-?/. |
- |
c.-4684C>T |
r.(?) |
p.(=) |
- |
Unknown |
- |
likely benign |
g.76834898C>T |
g.77123852C>T |
CAPN5(NM_004055.4):c.1905C>T (p.T635=) |
- |
CAPN5_000042 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-?/. |
- |
c.-4677A>G |
r.(?) |
p.(=) |
- |
Unknown |
- |
likely benign |
g.76834905A>G |
- |
CAPN5(NM_004055.4):c.1912A>G (p.M638V) |
- |
CAPN5_000043 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-?/? |
_1 |
c.-4128C>T |
r.(?) |
p.(?) |
5'gene |
Paternal (confirmed) |
ACMG |
likely benign |
g.76835454C>T |
g.77124408C>T |
- |
- |
MYO7A_000357 |
Heterozygous; modifier: binds YY1 which reduces expression of MYO7A. Described in trans of a DFNA11 allele, increases the severity of the phenotype. |
PubMed: Street 2004 |
- |
rs10899353 |
Germline |
- |
- |
+BccI;-BsmBI;-BceAI;-BsmAI; |
- |
- |
DNA |
SEQ |
- |
- |
DFNA1 |
? |
PubMed: Street 2004 |
Relative |
F |
- |
United States |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/? |
_1 |
c.-2323C>T |
r.(=) |
p.(=) |
5'UTR |
Unknown |
ACMG |
likely benign |
g.76837259C>T |
g.77126213C>T |
-272-2051C>T |
- |
MYO7A_000411 |
Heterozygous |
PubMed: Le Quesne Stabej 2012 |
- |
- |
Germline |
- |
0/96 controls |
+BfaI;+AvrII;+StyI;-PspGI;-BssKI;-ScrFI; |
- |
- |
DNA |
SEQ |
- |
- |
USH2 |
? |
PubMed: Le Quesne Stabej 2012 |
Proband |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
1 |
Maria Bitner-Glindzicz |
-/? |
_1 |
c.-2258C>G |
r.(=) |
p.(=) |
5'UTR |
Unknown |
ACMG |
likely benign |
g.76837324C>G |
g.77126278C>G |
c.-272-1986C>G |
- |
MYO7A_000422 |
Heterozygous |
PubMed: Le Quesne Stabej 2012 |
- |
- |
Germline |
- |
0/96 controls |
+MnlI;+HphI;-DdeI;-BspCNI;-AluI;-CviKI_1; |
- |
- |
DNA |
SEQ |
- |
- |
USH2 |
- |
PubMed: Le Quesne Stabej 2012 |
Proband |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
1 |
Maria Bitner-Glindzicz |
+/+ |
_1_37i |
c.-272-?_5168+213del |
r.0? |
p.0? |
Motor domain (1-729);IQ 1 (745-765);IQ 2 (768-788);IQ 3 (791-811);IQ 4 (814-834);IQ 5 (837-857);Coiled coil (858-935);MyTH4 1 (1017-1253);FERM 1 (1258-1602);SH3 (1603-1672) |
Parent #2 |
- |
pathogenic |
g.76839310_76913682del |
- |
-272-?_5168+213del |
- |
MYO7A_000125 |
Heterozygous
Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. |
PubMed: Roux 2011 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Roux 2011 |
Proband |
F |
- |
- |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
+/. |
- |
c.(?_-272)_(5168+1_5169-1)del |
r.(?) |
p.(?) |
- |
Maternal (confirmed) |
ACMG |
pathogenic |
g.(?_77128264)_(77202425_77203059)del |
- |
- |
- |
MYO7A_001034 |
- |
PubMed: Mansard et al, 2021 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ-NG, SEQ |
- |
- |
USH1 |
- |
PubMed: Mansard et al, 2021 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
+/+ |
1i |
c.-46-2A>G |
r.(?) |
p.(?) |
- |
Unknown |
- |
pathogenic |
g.76841633A>G |
g.77130587A>G |
- |
- |
MYO7A_000468 |
Heterozygous |
PubMed: Le Quesne Stabej 2012 |
- |
- |
Germline |
- |
0/878 controls |
+AciI;-PstI;-HpyCH4V;-SfcI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1 |
- |
PubMed: Le Quesne Stabej 2012 |
Proband |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
1 |
Maria Bitner-Glindzicz |
-?/. |
- |
c.-11G>A |
r.(?) |
p.(=) |
- |
Unknown |
- |
likely benign |
g.76841670G>A |
- |
MYO7A(NM_000260.4):c.-11G>A |
- |
CAPN5_000076 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+?/. |
- |
c.? |
r.? |
p.? |
- |
Parent #2 |
- |
likely pathogenic |
g.? |
- |
del ex21-27 |
- |
DRD4_000002 |
- |
PubMed: Neuhaus 2017 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ-NG |
- |
gene panel |
USH |
Pat63 |
PubMed: Neuhaus 2017 |
- |
- |
no |
Germany |
- |
- |
- |
- |
- |
1 |
LOVD |
+?/. |
25 |
c.? |
r.(?) |
p.? |
- |
Unknown |
- |
likely pathogenic |
g.76893478C>T |
- |
c.3118C>T (p.Arg1040Gly) |
- |
DRD4_000002 |
- |
PubMed: SkorczykWerner-2020 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
arraySNP |
- |
- |
retinal disease |
- |
PubMed: SkorczykWerner 2020 |
- |
M |
- |
- |
Polish |
- |
- |
- |
- |
1 |
LOVD |
+?/. |
3 |
c.? |
r.(?) |
p.? |
- |
Unknown |
- |
likely pathogenic |
g.? |
- |
p.Y1396* |
- |
DRD4_000002 |
- |
PubMed: Wafa-2021 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ-NG, SEQ |
- |
- |
retinal disease |
- |
PubMed: Wafa 2021 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
LOVD |
+?/. |
- |
c.3G>A |
r.(?) |
p.0? |
- |
Parent #2 |
- |
likely pathogenic (recessive) |
g.76841683G>A |
g.77130637G>A |
- |
- |
MYO7A_000888 |
- |
PubMed: Fuster-Garcia 2018 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
arraySEQ |
- |
- |
retinal disease |
RP1567 |
PubMed: Fuster-Garcia 2018 |
analysis 77 USH patients |
- |
- |
Spain |
- |
- |
- |
- |
- |
1 |
Global Variome, with Curator vacancy |
+/. |
2 |
c.3G>A |
r.? |
p.? |
- |
Parent #2 |
- |
pathogenic |
g.76841683G>A |
- |
c.3G>A |
- |
MYO7A_000888 |
- |
PubMed: Galbis-Martinez-2021 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
? |
- |
- |
retinal disease |
- |
PubMed: Galbis-Martinez-2021 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
4 |
LOVD |
+/+ |
2 |
c.6_9dup |
r.(?) |
p.(Leu4Aspfs*39) |
- |
Unknown |
- |
pathogenic |
g.76841686_76841689dup |
g.77130640_77130643dup |
- |
- |
MYO7A_000164 |
Heterozygous |
PubMed: Jaijo 2006 |
- |
- |
Germline |
- |
- |
none |
- |
- |
DNA |
minigene, RT-PCR, SEQ |
- |
- |
USH1B |
? |
PubMed: Jaijo 2006 |
Proband - Minigene and Nasal cell studies in Aparisi et al., 2013 |
M |
- |
Spain |
- |
- |
- |
- |
- |
1 |
Jose Maria Millan |
+/+ |
2 |
c.6_9dup |
r.(?) |
p.(Leu4Aspfs*39) |
- |
Maternal (confirmed) |
- |
pathogenic |
g.76841686_76841689dup |
g.77130640_77130643dup |
- |
- |
MYO7A_000164 |
Heterozygous |
PubMed: Roux 2011 |
- |
- |
Germline |
- |
- |
none |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Besnard, Garcia-Garcia 2014 |
Proband |
M |
- |
France |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
+/+ |
2 |
c.6_9dup |
r.(?) |
p.(Leu4fsAsp*39) |
- |
Parent #2 |
- |
pathogenic |
g.76841686_76841689dup |
g.77130640_77130643dup |
- |
- |
MYO7A_000164 |
Heterozygous; mutation |
PubMed: Bonnet 2016 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-S |
- |
- |
USH1B |
? |
PubMed: Bonnet 2016 |
Proband |
M |
- |
Spain |
- |
- |
- |
- |
- |
1 |
Crystel Bonnet |
+?/. |
- |
c.6_9dup |
r.(?) |
p.(Leu4Aspfs*39) |
- |
Unknown |
- |
likely pathogenic |
g.76841686_76841689dup |
g.77130640_77130643dup |
, c.6_9dup, p.Leu4AspfsTer39 |
- |
MYO7A_000164 |
- |
PubMed: Ezquerra-Inchausti 2018 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ-NG |
blood |
- |
retinal disease |
II:3 |
PubMed: Ezquerra-Inchausti 2018 |
Family RP88, II:3 |
? |
no |
Spain |
- |
- |
- |
- |
- |
1 |
LOVD |
+?/. |
- |
c.6_9dup |
r.(?) |
p.(Leu4Aspfs*39) |
- |
Unknown |
- |
likely pathogenic |
g.76841686_76841689dup |
g.77130640_77130643dup |
, c.6_9dup, p.Leu4AspfsTer39 |
- |
MYO7A_000164 |
- |
PubMed: Ezquerra-Inchausti 2018 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ-NG |
blood |
- |
retinal disease |
II:5 |
PubMed: Ezquerra-Inchausti 2018 |
Family RP88, II:5 |
? |
no |
Spain |
- |
- |
- |
- |
- |
1 |
LOVD |
+/. |
2 |
c.6_9dup |
r.(?) |
p.(Leu4Aspfs*39) |
- |
Parent #2 |
- |
pathogenic |
g.76841686_76841689dup |
- |
c.6_9dup(UV4) |
- |
MYO7A_000164 |
- |
PubMed: Galbis-Martinez-2021 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
? |
- |
- |
retinal disease |
- |
PubMed: Galbis-Martinez-2021 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
8 |
LOVD |
+/. |
1i |
c.18+2T>A |
r.spl |
p.? |
- |
Unknown |
- |
pathogenic |
g.76841700T>A |
g.77130654T>A |
- |
- |
MYO7A_000605 |
- |
PubMed: Sommen 2016, Journal: Sommen 2016 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-I |
- |
- |
DFNB;ARNSHL |
- |
PubMed: Sommen 2016, Journal: Sommen 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Manou Sommen |
+?/. |
- |
c.18+2T>A |
r.spl |
p.(?) |
- |
Parent #1 |
- |
likely pathogenic |
g.76841700T>A |
g.77130654T>A |
MYO7A, variant 1: c.18+2T>A/p.?, variant 2: c.18+2T>A/p.? |
- |
MYO7A_000605 |
solved, homozygous |
PubMed: Weisschuh 2020 |
- |
- |
Unknown |
? |
- |
- |
- |
- |
DNA |
SEQ-NG |
blood |
RET4 targeted sequencing panel - see paper |
retinal disease |
597 |
PubMed: Weisschuh 2020 |
Filing key number: 215, Usher syndrome type 2, no patient Ids, consecutive numbers given |
F |
- |
Germany |
- |
- |
- |
- |
- |
1 |
LOVD |
-?/. |
- |
c.19-7C>T |
r.(=) |
p.(=) |
- |
Unknown |
- |
likely benign |
g.76853748C>T |
g.77142702C>T |
MYO7A(NM_000260.3):c.19-7C>T, MYO7A(NM_000260.4):c.19-7C>T |
- |
MYO7A_000843 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-?/. |
- |
c.19-7C>T |
r.(=) |
p.(=) |
- |
Unknown |
- |
likely benign |
g.76853748C>T |
- |
MYO7A(NM_000260.3):c.19-7C>T, MYO7A(NM_000260.4):c.19-7C>T |
- |
MYO7A_000843 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/+ |
2i |
c.19-2A>G |
r.spl |
p.? |
- |
Parent #2 |
- |
pathogenic |
g.76853753A>G |
g.77142707A>G |
- |
- |
MYO7A_000214 |
Heterozygous |
PubMed: Jacobson 2009 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Jacobson 2009 |
Proband |
F |
- |
- |
- |
- |
- |
- |
- |
1 |
William J. Kimberling |
+/. |
- |
c.19-1G>A |
r.spl? |
p.? |
- |
Unknown |
- |
pathogenic |
g.76853754G>A |
g.77142708G>A |
- |
- |
MYO7A_000535 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/+ |
1i |
c.19-1G>A |
r.spl |
p.? |
- |
Unknown |
- |
pathogenic |
g.76853754G>A |
g.77142708G>A |
- |
- |
MYO7A_000535 |
Heterozygous |
PubMed: Bharadwaj 2000 |
- |
rs111033426 |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-S |
- |
- |
USH1B |
? |
PubMed: Bharadwaj 2000 |
Proband |
- |
- |
Ireland |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
+/. |
- |
c.19-1G>A |
r.spl |
p.? |
- |
Parent #1 |
ACMG |
pathogenic |
g.76853754G>A |
g.77142708G>A |
- |
- |
MYO7A_000535 |
- |
PubMed: Sun 2018 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ-NG |
- |
- |
HL |
19810 |
PubMed: Sun 2018 |
sporadic case |
- |
no |
China |
- |
- |
- |
- |
- |
1 |
LOVD |
+/. |
- |
c.19-1_19insG |
r.? |
p.? |
- |
Unknown |
- |
pathogenic (recessive) |
g.76853754_76853755insG |
- |
11:76853753A>AG ENST00000409709.3:c.22dupG (Asp8GlyfsTer34) |
- |
MYO7A_000907 |
- |
PubMed: Carss 2017 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ-NG |
- |
WGS |
retinal disease |
G006299 |
PubMed: Carss 2017 |
- |
M |
- |
United Kingdom (Great Britain) |
Europe |
- |
- |
- |
- |
1 |
LOVD |
?/. |
- |
c.19G>A |
r.(?) |
p.(Gly7Arg) |
- |
Unknown |
- |
VUS |
g.76853755G>A |
- |
MYO7A(NM_000260.3):c.19G>A (p.G7R) |
- |
MYO7A_000915 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
?/. |
- |
c.19G>A |
r.(?) |
p.(Gly7Arg) |
- |
Unknown |
- |
VUS |
g.76853755G>A |
- |
- |
- |
MYO7A_000915 |
- |
- |
- |
rs372509310 |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+?/. |
- |
c.20G>T |
r.(?) |
p.(Gly7Val) |
- |
Paternal (confirmed) |
ACMG |
likely pathogenic (recessive) |
g.76853756G>T |
g.77142710G>T |
- |
- |
MYO7A_001106 |
- |
PubMed: Richard 2019 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG |
- |
- |
HL |
PKDF019A |
PubMed: Richard 2019 |
2-generation family, 5 affected (3F, 2M) |
- |
yes |
Pakistan |
- |
- |
- |
- |
- |
5 |
Johan den Dunnen |
+?/. |
- |
c.22dup |
r.(?) |
p.(Asp8Glyfs*34) |
- |
Unknown |
- |
likely pathogenic |
g.76853758dup |
g.77142712dup |
MYO7A c.22dupG, p.Asp8GlyfsTer34 |
- |
MYO7A_001035 |
heterozygous |
PubMed: Turro 2020 |
- |
- |
Germline/De novo (untested) |
? |
- |
- |
- |
- |
DNA |
SEQ-NG-I |
blood |
whole genome sequencing |
retinal disease |
G006299 |
PubMed: Turro 2020 |
only individuals with mutations in retinal disease genes from this publication were inserted into LOVD |
? |
- |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
1 |
LOVD |
+?/. |
- |
c.22dup |
r.(?) |
p.(Asp8Glyfs*34) |
- |
Unknown |
- |
likely pathogenic |
g.76853758dup |
g.77142712dup |
MYO7A c.22dupG, p.Asp8Glyfs*34 |
- |
MYO7A_001035 |
- |
PubMed: Georgiou 2021 |
- |
- |
Unknown |
? |
- |
- |
- |
- |
DNA |
SEQ-NG |
blood |
retrospective study |
retinal disease |
P8 |
PubMed: Georgiou 2021 |
pedigree ID: 19131, genetic ID: 29686 |
M |
- |
(United Kingdom (Great Britain)) |
- |
- |
- |
- |
- |
1 |
LOVD |
+/. |
3 |
c.29T>C |
r.(?) |
p.(Val10Ala) |
- |
Maternal (confirmed) |
- |
pathogenic |
g.76853765T>C |
g.77142719T>C |
- |
- |
MYO7A_000498 |
not in 221 hearing controls |
PubMed: Brownstein 2014, Journal: Brownstein 2014 |
- |
- |
Germline |
yes |
1/201 cases |
- |
- |
- |
DNA |
SEQ-NG-I |
blood |
- |
DFNB2 |
- |
PubMed: Brownstein 2014, Journal: Brownstein 2014 |
2-generation family, 1 affected, unaffected heterozygous carrier parents |
M |
no |
Israel |
Turkey;Jewish |
- |
- |
- |
- |
1 |
Zippi Brownstein |
+/+ |
3 |
c.33G>A |
r.(?) |
p.(Trp11*) |
- |
Unknown |
- |
pathogenic |
g.76853769G>A |
g.77142723G>A |
- |
- |
MYO7A_000158 |
Heterozygous |
PubMed: Weston 1996 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Weston 1996 |
Proband |
- |
- |
Sweden |
- |
- |
- |
- |
- |
1 |
William J. Kimberling |
?/. |
- |
c.37G>C |
r.(?) |
p.(Asp13His) |
- |
Unknown |
- |
VUS |
g.76853773G>C |
g.77142727G>C |
MYO7A(NM_000260.3):c.37G>C (p.D13H, p.(Asp13His)) |
- |
MYO7A_000771 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
?/. |
- |
c.37G>C |
r.(?) |
p.(Asp13His) |
- |
Unknown |
- |
VUS |
g.76853773G>C |
g.77142727G>C |
MYO7A(NM_000260.3):c.37G>C (p.D13H, p.(Asp13His)) |
- |
MYO7A_000771 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
?/. |
- |
c.37G>C |
r.(?) |
p.(Asp13His) |
- |
Unknown |
- |
VUS |
g.76853773G>C |
g.77142727G>C |
MYO7A(NM_000260.3):c.37G>C (p.D13H, p.(Asp13His)) |
- |
MYO7A_000771 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/+ |
3 |
c.47T>A |
r.(?) |
p.(Leu16*) |
- |
Parent #1 |
- |
pathogenic |
g.76853783T>A |
g.77142737T>A |
- |
- |
MYO7A_000258 |
Heterozygous |
PubMed: Janecke 1999, PubMed: Dad 2016 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Janecke 1999, PubMed: Dad 2016 |
Proband |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/. |
- |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Unknown |
- |
benign |
g.76853783T>C |
g.77142737T>C |
MYO7A(NM_000260.4):c.47T>C (p.L16S) |
- |
MYO7A_000031 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-/. |
- |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Unknown |
- |
benign |
g.76853783T>C |
g.77142737T>C |
MYO7A(NM_000260.4):c.47T>C (p.L16S) |
- |
MYO7A_000031 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Paternal (inferred) |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Homozygous; non causative |
PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ, SEQ-NG-S |
- |
- |
USH1 |
- |
PubMed: Rong 2014 |
Proband |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Maternal (inferred) |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Homozygous; non causative |
PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ, SEQ-NG-S |
- |
- |
USH1 |
- |
PubMed: Rong 2014 |
Proband |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Maternal (inferred) |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Homozygous; non causative |
PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ, SEQ-NG-S |
- |
- |
USH1 |
- |
PubMed: Rong 2014 |
Proband |
F |
- |
China |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Paternal (inferred) |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Homozygous; non causative |
PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ, SEQ-NG-S |
- |
- |
USH1 |
- |
PubMed: Rong 2014 |
Proband |
F |
- |
China |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Unknown |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Heterozygous; non causative |
PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ, SEQ-NG-S |
- |
- |
USH2 |
- |
PubMed: Rong 2014 |
Proband - variants found in samples of two affected brothers. They carry the same causative mutations in MYO7A, but other variants cannot be discriminated from the publication. |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Unknown |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Heterozygous |
PubMed: Besnard, Garcia-Garcia 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ, SEQ-NG-S |
- |
- |
USH1 |
- |
PubMed: Besnard, Garcia-Garcia 2014 |
Proband |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Maternal (inferred) |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Homozygous; Neutral |
PubMed: Le Quesne Stabej 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1 |
- |
PubMed: Le Quesne Stabej 2012 |
Proband |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
1 |
Maria Bitner-Glindzicz |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Paternal (inferred) |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Homozygous; Neutral |
PubMed: Le Quesne Stabej 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1 |
- |
PubMed: Le Quesne Stabej 2012 |
Proband |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
1 |
Maria Bitner-Glindzicz |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Unknown |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Heterozygous; Neutral |
PubMed: Le Quesne Stabej 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1 |
- |
PubMed: Le Quesne Stabej 2012 |
Proband |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
1 |
Maria Bitner-Glindzicz |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Paternal (inferred) |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Homozygous |
PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Roux 2006 |
Proband |
M |
- |
France |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Maternal (inferred) |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Homozygous |
PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Roux 2006 |
Proband |
M |
- |
France |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Unknown |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Heterozygous |
PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Roux 2006 |
Proband |
M |
- |
France |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Paternal (inferred) |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Homozygous |
PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Roux 2011 |
Proband |
M |
- |
France |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Maternal (inferred) |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Homozygous |
PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Roux 2011 |
Proband |
M |
- |
France |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Paternal (inferred) |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Homozygous |
PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Roux 2006 |
Proband |
M |
- |
Morocco |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Maternal (inferred) |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Homozygous |
PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Roux 2006 |
Proband |
M |
- |
Morocco |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Unknown |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Heterozygous |
PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
minigene, SEQ |
- |
- |
USH1B |
? |
PubMed: Roux 2006 |
Proband |
M |
- |
Algeria |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Unknown |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Heterozygous |
PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Roux 2006 |
Proband |
M |
- |
France |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Unknown |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Heterozygous |
PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Roux 2006 |
Proband |
F |
- |
France |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Unknown |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Heterozygous |
PubMed: Blanchet 2007; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Blanchet 2007 |
Proband |
M |
- |
France |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Unknown |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Heterozygous |
PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Roux 2006 |
Proband |
M |
- |
Algeria |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Unknown |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Heterozygous |
PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Roux 2011 |
Proband |
F |
- |
France |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Paternal (inferred) |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Homozygous |
PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Roux 2006 |
Proband |
F |
- |
France |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Maternal (inferred) |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Homozygous |
PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Roux 2006 |
Proband |
F |
- |
France |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Paternal (inferred) |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Homozygous |
PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Roux 2006 |
Proband |
M |
- |
Senegal |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Maternal (inferred) |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Homozygous |
PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Roux 2006 |
Proband |
M |
- |
Senegal |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Paternal (inferred) |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Homozygous |
USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
- |
Proband |
M |
- |
France |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Maternal (inferred) |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Homozygous |
USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
- |
Proband |
M |
- |
France |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Parent #1 |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Heterozygous |
PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Roux 2011 |
Proband |
F |
- |
France |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Paternal (inferred) |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Homozygous |
PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
minigene, SEQ |
- |
- |
USH1B |
? |
PubMed: Roux 2006 |
Proband |
F |
- |
France |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Maternal (inferred) |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Homozygous |
PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
minigene, SEQ |
- |
- |
USH1B |
? |
PubMed: Roux 2006 |
Proband |
F |
- |
France |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Paternal (inferred) |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Homozygous |
PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Roux 2011 |
Proband |
M |
- |
- |
north Africa |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Maternal (inferred) |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Homozygous |
PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Roux 2011 |
Proband |
M |
- |
- |
north Africa |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Unknown |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Heterozygous |
PubMed: Le Guédard-Méreuze 2010; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
minigene, SEQ |
- |
- |
USH1B |
? |
PubMed: Le Guédard-Méreuze 2010 |
Proband |
M |
- |
France |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Unknown |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Heterozygous |
PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Roux 2011 |
Proband |
F |
- |
France |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Unknown |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Heterozygous |
PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
minigene, SEQ |
- |
- |
USH1B |
? |
PubMed: Roux 2011 |
Proband |
M |
- |
France |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Unknown |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Heterozygous |
PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Roux 2011 |
Proband |
F |
- |
France |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Paternal (inferred) |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Homozygous |
PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Roux 2011 |
Proband |
F |
- |
Pakistan |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Maternal (inferred) |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Homozygous |
PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Roux 2011 |
Proband |
F |
- |
Pakistan |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Unknown |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Heterozygous |
PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Roux 2011 |
Proband |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Unknown |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Heterozygous |
PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Roux 2011 |
Proband |
F |
- |
France |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Paternal (inferred) |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Homozygous |
PubMed: Gerber 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Gerber 2006 |
Proband |
- |
- |
France |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Maternal (inferred) |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Homozygous |
PubMed: Gerber 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Gerber 2006 |
Proband |
- |
- |
France |
- |
- |
- |
- |
- |
1 |
Anne-Françoise Roux |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Paternal (inferred) |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Homozygous |
PubMed: Najera 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Najera 2002 |
Proband |
M |
- |
Spain |
- |
- |
- |
- |
- |
1 |
Jose Maria Millan |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Maternal (inferred) |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Homozygous |
PubMed: Najera 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Najera 2002 |
Proband |
M |
- |
Spain |
- |
- |
- |
- |
- |
1 |
Jose Maria Millan |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Unknown |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Heterozygous |
PubMed: Jaijo 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
SEQ |
- |
- |
USH1B |
? |
PubMed: Jaijo 2006 |
Proband |
M |
- |
Spain |
- |
- |
- |
- |
- |
1 |
Jose Maria Millan |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Paternal (inferred) |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Homozygous |
PubMed: Cuevas 1999; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
minigene, RT-PCR, SEQ |
- |
- |
USH1B |
? |
PubMed: Cuevas 1999 |
Proband - Minigene and Nasal cell studies in Aparisi et al., 2013 |
M |
- |
Spain |
- |
- |
- |
- |
- |
1 |
Jose Maria Millan |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Maternal (inferred) |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Homozygous |
PubMed: Cuevas 1999; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
minigene, RT-PCR, SEQ |
- |
- |
USH1B |
? |
PubMed: Cuevas 1999 |
Proband - Minigene and Nasal cell studies in Aparisi et al., 2013 |
M |
- |
Spain |
- |
- |
- |
- |
- |
1 |
Jose Maria Millan |
-/- |
3 |
c.47T>C |
r.(?) |
p.(Leu16Ser) |
- |
Unknown |
- |
benign |
g.76853783T>C |
g.77142737T>C |
- |
- |
MYO7A_000031 |
Heterozygous |
PubMed: Jaijo 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d |
- |
rs1052030 |
Germline |
- |
- |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
- |
- |
DNA |
minigene, RT-PCR, SEQ |
- |
- |
USH1B |
? |
PubMed: Jaijo 2006 |
Proband - Minigene and Nasal cell studies in Aparisi et al., 2013 |
M |
- |
Spain |
- |
- |
- |
- |
- |
1 |
Jose Maria Millan |