Global Variome shared LOVD
SLC26A4 (solute carrier family 26, member 4)
LOVD v.3.0 Build 30b [
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Curator:
David Baux
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This database is one of the
”Retinal and hearing impairment genetic variant databases”
.
The variants shown are described using the NM_000441.1 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
conflicting
association
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arrayMET = array for methylation analysis
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = single molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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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_3i
c.-1288_304+3801del
r.0?
p.0?
Parent #1
-
pathogenic (recessive)
g.107300016_107307681del
g.107659571_107667236del
g.-1066C_6602Adel
-
SLC26A4_000285
-
PubMed: Lin 2019
,
PubMed: Wu 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
213-gene panel
HL
DE2123
PubMed: Lin 2019
,
PubMed: Wu 2019
3-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents
F;M
-
Taiwan
-
-
-
-
-
5
Johan den Dunnen
?/.
-
c.-109G>A
r.(?)
p.(=)
Unknown
-
VUS
g.107301195G>A
g.107660750G>A
-
-
SLC26A4_000154
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
1
c.-103T>C
r.(0?)
p.(0?)
Unknown
-
NA
g.107301201T>C
g.107660756T>C
-
-
SLC26A4_000197
in vitro promoter-reporter assay shows significantly decreased transcription of variant SLC26A4 construct
PubMed: Yang 2007
,
Journal: Yang 2007
-
rs60284988
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
1
c.-103T>C
r.(0?)
p.(0?)
Unknown
-
pathogenic
g.107301201T>C
g.107660756T>C
-
-
SLC26A4_000197
not in 200 control chromosomes
PubMed: Yang 2007
,
Journal: Yang 2007
-
rs60284988
Germline
-
1/429 cases
-
-
-
DNA
DHPLC, SEQ
-
-
DFNB4
-
PubMed: Yang 2007
,
Journal: Yang 2007
-
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/+
1
c.-103T>C
r.(0?)
p.(0?)
Unknown
-
pathogenic
g.107301201T>C
g.107660756T>C
-
-
SLC26A4_000197
not in 200 control chromosomes
PubMed: Yang 2007
,
Journal: Yang 2007
-
rs60284988
Germline
-
1/429 cases
-
-
-
DNA
DHPLC, SEQ
-
-
DFNB4
-
PubMed: Yang 2007
,
Journal: Yang 2007
-
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/+
1
c.-103T>C
r.(0?)
p.(0?)
Unknown
-
pathogenic
g.107301201T>C
g.107660756T>C
-
-
SLC26A4_000197
not in 200 control chromosomes
PubMed: Yang 2007
,
Journal: Yang 2007
-
rs60284988
Germline
-
1/429 cases
-
-
-
DNA
DHPLC, SEQ
-
-
DFNB4
-
PubMed: Yang 2007
,
Journal: Yang 2007
-
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/+
1
c.-103T>C
r.(0?)
p.(0?)
Unknown
-
pathogenic
g.107301201T>C
g.107660756T>C
-
-
SLC26A4_000197
not in 200 control chromosomes
PubMed: Yang 2007
,
Journal: Yang 2007
-
rs60284988
Germline
-
1/429 cases
-
-
-
DNA
DHPLC, SEQ
-
-
DFNB4
-
PubMed: Yang 2007
,
Journal: Yang 2007
-
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/+
1
c.-103T>C
r.(0?)
p.(0?)
Unknown
-
pathogenic
g.107301201T>C
g.107660756T>C
-
-
SLC26A4_000197
not in 200 control chromosomes
PubMed: Yang 2007
,
Journal: Yang 2007
-
rs60284988
Germline
-
1/429 cases
-
-
-
DNA
DHPLC, SEQ
-
-
DFNB4
-
PubMed: Yang 2007
,
Journal: Yang 2007
-
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/+
1
c.-103T>C
r.(0?)
p.(0?)
Unknown
-
pathogenic
g.107301201T>C
g.107660756T>C
-
-
SLC26A4_000197
not in 200 control chromosomes
PubMed: Yang 2007
,
Journal: Yang 2007
-
rs60284988
Germline
-
1/429 cases
-
-
-
DNA
DHPLC, SEQ
-
-
DFNB4
-
PubMed: Yang 2007
,
Journal: Yang 2007
-
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/+
1
c.-103T>C
r.(0?)
p.(0?)
Unknown
-
pathogenic
g.107301201T>C
g.107660756T>C
-
-
SLC26A4_000197
not in 200 control chromosomes
PubMed: Yang 2007
,
Journal: Yang 2007
-
rs60284988
Germline
-
1/429 cases
-
-
-
DNA
DHPLC, SEQ
-
-
DFNB4
-
PubMed: Yang 2007
,
Journal: Yang 2007
-
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/+
1
c.-103T>C
r.(0?)
p.(0?)
Unknown
-
pathogenic
g.107301201T>C
g.107660756T>C
-
-
SLC26A4_000197
not in 200 control chromosomes
PubMed: Yang 2007
,
Journal: Yang 2007
-
rs60284988
Germline
-
1/429 cases
-
-
-
DNA
DHPLC, SEQ
-
-
DFNB4
-
PubMed: Yang 2007
,
Journal: Yang 2007
-
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/+
1
c.-103T>C
r.(0?)
p.(0?)
Unknown
-
pathogenic
g.107301201T>C
g.107660756T>C
-
-
SLC26A4_000197
not in 200 control chromosomes
PubMed: Yang 2007
,
Journal: Yang 2007
-
rs60284988
Germline
-
1/429 cases
-
-
-
DNA
DHPLC, SEQ
-
-
DFNB4
-
PubMed: Yang 2007
,
Journal: Yang 2007
-
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.-103T>C
r.(?)
p.(=)
Unknown
-
VUS
g.107301201T>C
g.107660756T>C
SLC26A4(NM_000441.1):c.-103T>C
-
SLC26A4_000197
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
1
c.-103T>C
r.(?)
p.(=)
Unknown
-
pathogenic
g.107301201T>C
g.107660756T>C
-
-
SLC26A4_000127
heterozygous; may affect transcription (Yang ,2007); Pathogenicity indeterminate
PubMed: B.Choi 2009
-
rs60284988
Germline
-
0/146 controls
-
-
-
DNA
SEQ
-
-
DFNB
-
PubMed: B.Choi 2009
Proband
M
-
United States
-
-
-
-
-
1
Anne-Françoise Roux
+/+
1
c.-103T>C
r.(?)
p.(=)
Unknown
-
pathogenic
g.107301201T>C
g.107660756T>C
-
-
SLC26A4_000127
heterozygous; may affect transcription (Yang ,2007)
PubMed: Baux, Vaché 2017
-
rs60284988
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG-S
-
-
DFNB
S1536
PubMed: Baux 2017
Proband
M
-
France
-
-
-
-
-
1
Anne-Françoise Roux
?/.
-
c.-103T>C
r.(?)
p.(=)
Unknown
-
VUS
g.107301201T>C
g.107660756T>C
SLC26A4(NM_000441.1):c.-103T>C
-
SLC26A4_000127
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.-66C>G
r.(?)
p.(=)
Unknown
-
benign
g.107301238C>G
g.107660793C>G
SLC26A4(NM_000441.1):c.-66C>G
-
SLC26A4_000201
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/-
1
c.-66C>G
r.(=)
p.(=)
Unknown
ACMG
benign
g.107301238C>G
g.107660793C>G
-
-
SLC26A4_000122
heterozygous; No pathogenicity
PubMed: B.Choi 2009
-
rs17154282
Germline
-
0/146 controls
-
-
-
DNA
SEQ
-
-
DFNB
-
PubMed: B.Choi 2009
Proband
M
-
United States
-
-
-
-
-
1
Anne-Françoise Roux
?/?
1
c.-60A>G
r.(?)
p.(=)
Unknown
ACMG
VUS
g.107301244A>G
g.107660799A>G
-
-
SLC26A4_000126
heterozygous; pathogenicity indeterminate, highly conserved among orthologs (B.Choi ,2009); Pathogenicity indeterminate
PubMed: B.Choi 2009
-
-
Germline
-
0/146 controls
-
-
-
DNA
SEQ
-
-
DFNB
-
PubMed: V.de Moraes 2013
Proband
M
-
United States
-
-
-
-
-
1
Anne-Françoise Roux
+?/.
-
c.-3-2A>G
r.spl?
p.?
Parent #1
-
likely pathogenic
g.107302082A>G
g.107661637A>G
-
-
SLC26A4_000230
1 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs397516411
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.2T>C
r.(?)
p.(Met1?)
Unknown
-
pathogenic
g.107302088T>C
g.107661643T>C
SLC26A4(NM_000441.1):c.2T>C (p.M1?)
-
SLC26A4_000202
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.2T>C
r.(?)
p.(Met1?)
Unknown
-
pathogenic
g.107302088T>C
g.107661643T>C
SLC26A4(NM_000441.1):c.2T>C (p.M1?)
-
SLC26A4_000202
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
2
c.2T>C
r.(?)
p.(Met1?)
Unknown
-
pathogenic
g.107302088T>C
g.107661643T>C
Pathogeni Functional studies showed endoplasmic reticulum retention with no surface expression confirming its pathogenicity (B.Choi et al.,2009) - described as p.Met1Thr
-
SLC26A4_000049
heterozygous; Pathogenic
PubMed: B.Choi 2009
; USMA-
missense variant in MSV3d
-
rs111033302
Germline
-
0/192 controls
-
-
-
DNA
SEQ
-
-
DFNB
-
PubMed: B.Choi 2009
Proband
F
-
United States
-
-
-
-
-
1
Anne-Françoise Roux
+/+
2
c.2T>C
r.(?)
p.Met1Thr
Unknown
-
pathogenic
g.107302088T>C
g.107661643T>C
Pathogeni Functional studies showed endoplasmic reticulum retention with no surface expression confirming its pathogenicity (B.Choi et al.,2009)
-
SLC26A4_000049
heterozygous; Mutation
PubMed: Huang S 2011
; USMA-
missense variant in MSV3d
-
rs111033302
Germline
-
0/400 controls
-
-
-
DNA
SEQ
-
-
DFNB
-
PubMed: Huang S 2011
Proband
-
-
China
-
-
-
-
-
1
Anne-Françoise Roux
+/+
2
c.2T>C
r.(?)
p.(Met1?)
Unknown
-
pathogenic
g.107302088T>C
g.107661643T>C
Pathogeni Functional studies showed endoplasmic reticulum retention with no surface expression confirming its pathogenicity (B.Choi et al.,2009) - described as p.Met1Thr
-
SLC26A4_000049
heterozygous; Mutation
PubMed: M.Ladsous 2014
; USMA-
missense variant in MSV3d
-
rs111033302
Germline
-
-
-
-
-
DNA
SEQ
-
-
DFNB
-
PubMed: M.Ladsous 2014
Proband
F
-
France
-
-
-
-
-
1
Anne-Françoise Roux
+/.
-
c.2T>G
r.(?)
p.?
Unknown
-
pathogenic
g.107302088T>G
-
-
-
SLC26A4_000281
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.2T>G
r,(?)
p.(Met1?)
Parent #1
-
pathogenic (recessive)
g.107302088T>G
g.107661643T>G
(M1R)
-
SLC26A4_000281
combination of alleles not reported
PubMed: Wu 2019
-
-
Germline
-
1/1291 cases hearing loss
-
-
-
DNA
SEQ, SEQ-NG
-
213-gene panel
HL
-
PubMed: Wu 2019
analysis 1291 cases hearing loss
-
-
Taiwan
-
-
-
-
-
1
Johan den Dunnen
-/.
-
c.15C>A
r.(?)
p.(Gly5=)
Unknown
-
benign
g.107302101C>A
g.107661656C>A
SLC26A4(NM_000441.2):c.15C>A (p.G5=)
-
SLC26A4_000210
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.17G>T
r.(?)
p.(Gly6Val)
Unknown
-
likely benign
g.107302103G>T
-
SLC26A4(NM_000441.2):c.17G>T (p.G6V)
-
SLC26A4_000253
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.28C>A
r.(?)
p.(Pro10Thr)
Unknown
-
likely benign
g.107302114C>A
-
SLC26A4(NM_000441.1):c.28C>A (p.P10T)
-
SLC26A4_000239
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.42del
r.(?)
p.(Glu15SerfsTer51)
Both (homozygous)
ACMG
pathogenic (recessive)
g.107302128del
g.107661683del
42delC
-
SLC26A4_000268
-
PubMed: Richard 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
HL
DEM4465
PubMed: Richard 2019
-
-
yes
Pakistan
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.71G>T
r.(?)
p.(Arg24Leu)
Parent #1
-
pathogenic (recessive)
g.107302157G>T
g.107661712G>T
-
-
SLC26A4_000269
-
PubMed: Richard 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
HL
DEM4149B
PubMed: Richard 2019
-
-
yes
Pakistan
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.71G>T
r.(?)
p.(Arg24Leu)
Both (homozygous)
-
pathogenic (recessive)
g.107302157G>T
g.107661712G>T
-
-
SLC26A4_000269
-
PubMed: Richard 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
HL
HL005
PubMed: Richard 2019
-
-
yes
Pakistan
-
-
-
-
-
1
Johan den Dunnen
+?/?
2
c.84C>A
r.(?)
p.(Ser28Arg)
Unknown
ACMG
VUS
g.107302170C>A
g.107661725C>A
-
-
SLC26A4_000111
heterozygous; Mutation
PubMed: M.Ladsous 2014
; USMA-
missense variant in MSV3d
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PDS;TDH2B
-
PubMed: M.Ladsous 2014
Proband
M
-
France
-
-
-
-
-
1
Anne-Françoise Roux
+/+
2
c.85G>C
r.(85g>c)
p.(Glu29Gln)
Maternal (confirmed)
-
pathogenic
g.107302171G>C
g.107661726G>C
G29Q
-
SLC26A4_000083
variant not in 500 control chromosomes; suggested digenic inheritance
PubMed: Yang 2007
,
Journal: Yang 2007
-
rs111033205
Germline
yes
-
-
-
-
DNA
SEQ
-
-
DFNB4
-
PubMed: Yang 2007
,
Journal: Yang 2007
2-generation family, 1 affcted, unaffected heterozygous carrier parents and brother
F
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.85G>C
r.(?)
p.(Glu29Gln)
Unknown
-
pathogenic
g.107302171G>C
g.107661726G>C
SLC26A4(NM_000441.1):c.85G>C (p.E29Q)
-
SLC26A4_000083
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
2
c.85G>C
r.(?)
p.(Glu29Gln)
Unknown
-
pathogenic
g.107302171G>C
g.107661726G>C
Pathogeni Functional studies showed reduced activity of mutant pendrin (A.Pera et al.,2008)
-
SLC26A4_000083
heterozygous; Mutation
PubMed: C.Campbell 2001
; USMA-
missense variant in MSV3d
-
rs111033205
Germline
-
-
-
-
-
DNA
SEQ
-
-
DFNB
-
PubMed: C.Campbell 2001
Relative
-
-
United States
-
-
-
-
-
1
Anne-Françoise Roux
+/+
2
c.85G>C
r.(?)
p.(Glu29Gln)
Unknown
-
pathogenic
g.107302171G>C
g.107661726G>C
Pathogeni Functional studies showed reduced activity of mutant pendrin (A.Pera et al.,2008)
-
SLC26A4_000083
heterozygous; Mutation
PubMed: C.Campbell 2001
; USMA-
missense variant in MSV3d
-
rs111033205
Germline
-
-
-
-
-
DNA
SEQ
-
-
DFNB
-
PubMed: C.Campbell 2001
Proband
-
-
United States
-
-
-
-
-
1
Anne-Françoise Roux
+/+
2
c.85G>C
r.(?)
p.(Glu29Gln)
Unknown
-
pathogenic
g.107302171G>C
g.107661726G>C
Pathogeni Functional studies showed reduced activity of mutant pendrin (A.Pera et al.,2008)
-
SLC26A4_000083
heterozygous; Mutation
PubMed: C.Campbell 2001
; USMA-
missense variant in MSV3d
-
rs111033205
Germline
-
-
-
-
-
DNA
SEQ
-
-
DFNB
-
PubMed: C.Campbell 2001
Relative
-
-
United States
-
-
-
-
-
1
Anne-Françoise Roux
+/+
2
c.85G>C
r.(?)
p.(Glu29Gln)
Parent #1
-
pathogenic
g.107302171G>C
g.107661726G>C
Pathogeni Functional studies showed reduced activity of mutant pendrin (A.Pera et al.,2008)
-
SLC26A4_000083
heterozygous; Pathogenic
PubMed: A.Pera 2008
; USMA-
missense variant in MSV3d
-
rs111033205
Germline
-
1/428 controls
-
-
-
DNA
SEQ
-
-
DFNB
-
PubMed: A.Pera 2008
Proband
F
-
Spain
-
-
-
-
-
1
Anne-Françoise Roux
+/+
2
c.85G>C
r.(?)
p.(Glu29Gln)
Unknown
-
pathogenic
g.107302171G>C
g.107661726G>C
Pathogeni Functional studies showed reduced activity of mutant pendrin (A.Pera et al.,2008)
-
SLC26A4_000083
heterozygous; Mutation
PubMed: M.Ladsous 2014
; USMA-
missense variant in MSV3d
-
rs111033205
Germline
-
-
-
-
-
DNA
SEQ
-
-
DFNB
-
PubMed: M.Ladsous 2014
Proband
F
-
France
-
-
-
-
-
1
Anne-Françoise Roux
+/+
2
c.85G>C
r.(?)
p.(Glu29Gln)
Maternal (confirmed)
-
pathogenic
g.107302171G>C
g.107661726G>C
Pathogeni Functional studies showed reduced activity of mutant pendrin (A.Pera et al.,2008)
-
SLC26A4_000083
heterozygous; UV3
PubMed: Baux, Vaché 2017
; USMA-
missense variant in MSV3d
-
rs111033205
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG-S
-
-
DFNB
S1595
PubMed: Baux 2017
Proband
M
-
France
-
-
-
-
-
1
Anne-Françoise Roux
+/.
-
c.85G>C
r.(?)
p.(Glu29Gln)
Unknown
-
pathogenic
g.107302171G>C
g.107661726G>C
SLC26A4(NM_000441.1):c.85G>C (p.E29Q)
-
SLC26A4_000083
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.135G>T
r.(?)
p.(Thr45=)
Unknown
-
likely benign
g.107302221G>T
g.107661776G>T
SLC26A4(NM_000441.1):c.135G>T (p.T45=)
-
SLC26A4_000234
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.142G>T
r.(?)
p.(Glu48Ter)
Unknown
-
pathogenic
g.107302228G>T
g.107661783G>T
SLC26A4(NM_000441.1):c.142G>T (p.E48*)
-
SLC26A4_000203
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.154A>T
r.(?)
p.(Lys52Ter)
Both (homozygous)
ACMG
pathogenic (recessive)
g.107302240A>T
g.107661795A>T
-
-
SLC26A4_000270
-
PubMed: Richard 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
HL
DEM4549
PubMed: Richard 2019
-
-
yes
Pakistan
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.164+1G>C
r.spl
p.?
Parent #1
-
pathogenic (recessive)
g.107302251G>C
g.107661806G>C
-
-
SLC26A4_000289
combination of alleles not reported
PubMed: Wu 2019
-
-
Germline
-
4/1291 cases hearing loss
-
-
-
DNA
SEQ, SEQ-NG
-
213-gene panel
HL
-
PubMed: Wu 2019
analysis 1291 cases hearing loss
-
-
Taiwan
-
-
-
-
-
4
Johan den Dunnen
+/+
2i
c.164+2T>C
r.spl?
p.?
Both (homozygous)
-
pathogenic (recessive)
g.107302252T>C
g.107661807T>C
-
-
SLC26A4_000138
homozygous
PubMed: Baux, Vaché 2017
-
rs397516420
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG-S
-
-
DFNB
S1728
PubMed: Baux 2017
Proband
F
-
France
-
-
-
-
-
1
Anne-Françoise Roux
+/+
2i
c.165-2A>G
r.spl?
p.?
Unknown
-
pathogenic
g.107303739A>G
g.107663294A>G
-
-
SLC26A4_000066
heterozygous; Mutation
PubMed: López-Bigas N 2002
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PDS;TDH2B
-
PubMed: López-Bigas N 2002
Proband
-
-
Italy
-
-
-
-
-
1
Anne-Françoise Roux
+/.
-
c.170C>A
r.(?)
p.(Ser57Ter)
Both (homozygous)
-
pathogenic (recessive)
g.107303746C>A
g.107663301C>A
-
-
SLC26A4_000271
-
PubMed: Park 2003
,
PubMed: Naz 2017
-
rs111033200
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
HL
HLRB10
PubMed: Park 2003
,
PubMed: Naz 2017
family, 3 affected
-
-
Pakistan
Punjab
-
-
-
-
3
Johan den Dunnen
-?/.
-
c.187G>A
r.(?)
p.(Gly63Ser)
Unknown
-
likely benign
g.107303763G>A
g.107663318G>A
SLC26A4(NM_000441.1):c.187G>A (p.G63S)
-
SLC26A4_000227
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.200C>G
r.(?)
p.(Thr67Ser)
Unknown
-
VUS
g.107303776C>G
g.107663331C>G
-
-
SLC26A4_000211
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.203T>C
r.(?)
p.(Leu68Pro)
Unknown
-
likely pathogenic
g.107303779T>C
-
-
-
SLC26A4_000258
-
-
-
rs749712560
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.209C>T
r.(?)
p.(Pro70Leu)
Unknown
-
VUS
g.107303785C>T
-
-
-
SLC26A4_000282
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
3
c.218del
r.(?)
p.(Glu73Glyfs*24)
Unknown
-
pathogenic
g.107303794del
g.107663349del
-
-
SLC26A4_000056
heterozygous; Mutation
PubMed: Huang S 2011
-
-
Germline
-
0/400 controls
-
-
-
DNA
SEQ
-
-
DFNB
-
PubMed: Huang S 2011
Proband
-
-
China
-
-
-
-
-
1
Anne-Françoise Roux
+/.
-
c.230A>T
r,(?)
p.(Lys77Ile)
Parent #1
-
pathogenic (recessive)
g.107303806A>T
g.107663361A>T
-
-
SLC26A4_000290
combination of alleles not reported
PubMed: Wu 2019
-
-
Germline
-
1/1291 cases hearing loss
-
-
-
DNA
SEQ, SEQ-NG
-
213-gene panel
HL
-
PubMed: Wu 2019
analysis 1291 cases hearing loss
-
-
Taiwan
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.235C>T
r,(?)
p.(Arg79Ter)
Parent #1
-
pathogenic (recessive)
g.107303811C>T
g.107663366C>T
-
-
SLC26A4_000291
combination of alleles not reported
PubMed: Wu 2019
-
-
Germline
-
1/1291 cases hearing loss
-
-
-
DNA
SEQ, SEQ-NG
-
213-gene panel
HL
-
PubMed: Wu 2019
analysis 1291 cases hearing loss
-
-
Taiwan
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.241A>G
r,(?)
p.(Lys81Glu)
Parent #1
-
pathogenic (recessive)
g.107303817A>G
g.107663372A>G
-
-
SLC26A4_000287
combination of alleles not reported
PubMed: Wu 2019
-
-
Germline
-
1/1291 cases hearing loss
-
-
-
DNA
SEQ, SEQ-NG
-
213-gene panel
HL
-
PubMed: Wu 2019
analysis 1291 cases hearing loss
-
-
Taiwan
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.241A>G
r.(?)
p.(Lys81Glu)
Parent #1
ACMG
likely pathogenic (recessive)
g.107303817A>G
g.107663372A>G
-
-
SLC26A4_000287
ACMG PM2, PM3, PP3, PP4
PubMed: Lin 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
SLC26A4, FOXI1, KCNJ10
HL
DE1021
PubMed: Lin 2019
-
-
-
Taiwan
-
-
-
-
-
1
Johan den Dunnen
-/-
3
c.262G>A
r.(?)
p.(Val88Ile)
Parent #2
-
benign
g.107303838G>A
g.107663393G>A
-
-
SLC26A4_000129
heterozygous; in cis with c.1226G>A (p.Arg409His). No significant functional impairement (A.Pera ,2008).; Non-pathogenic polymorphism
PubMed: A.Pera 2008
; USMA-
missense variant in MSV3d
-
-
Germline
-
1/428 controls
-
-
-
DNA
SEQ
-
-
DFNB
-
PubMed: A.Pera 2008
Proband
F
-
Spain
-
-
-
-
-
1
Anne-Françoise Roux
+/+
3
c.279del
r.(?)
p.(Ser93Argfs*4)
Unknown
-
pathogenic
g.107303855del
g.107663410del
-
-
SLC26A4_000077
heterozygous; Pathogenic
PubMed: V.de Moraes 2013
-
-
Germline
-
0/60 controls
-
-
-
DNA
SEQ
-
-
DFNB
-
PubMed: V.de Moraes 2013
Proband
F
-
Brazil
-
-
-
-
-
1
Anne-Françoise Roux
+?/+?
3
c.281C>T
r.(?)
p.(Thr94Ile)
Unknown
ACMG
VUS
g.107303857C>T
g.107663412C>T
-
-
SLC26A4_000041
heterozygous; Mutation
PubMed: Huang S 2011
; USMA-
missense variant in MSV3d
-
-
Germline
-
0/400 controls
-
-
-
DNA
SEQ
-
-
DFNB
-
PubMed: Huang S 2011
Proband
-
-
China
-
-
-
-
-
1
Anne-Françoise Roux
+/.
-
c.304G>A
r.(?)
p.(Gly102Arg)
Unknown
-
pathogenic
g.107303880G>A
-
-
-
SLC26A4_000241
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.304G>C
r.(?)
p.(Gly102Arg)
Unknown
-
likely pathogenic
g.107303880G>C
-
-
-
SLC26A4_000283
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
3i_6i
c.304+292_765+2672del
r.?
p.(Gly102Aspfs*4)
Unknown
-
pathogenic
g.107304172_107318226del
g.107663727_107677781del
Pathogenic, intragenic deletion of 14052kb
-
SLC26A4_000134
heterozygous; Pathogenic
PubMed: A.Pera 2008
-
-
Germline
-
0/428 controls
-
-
-
DNA
PCRq, SEQ
-
-
PDS;TDH2B
-
PubMed: A.Pera 2008
Proband
F
-
Spain
-
-
-
-
-
1
Anne-Françoise Roux
+/+
3i_6i
c.304+292_765+2672del
r.?
p.(Gly102Aspfs*4)
Unknown
-
pathogenic
g.107304172_107318226del
g.107663727_107677781del
Pathogenic, intragenic deletion of 14052kb
-
SLC26A4_000134
heterozygous; Pathogenic
PubMed: A.Pera 2008
-
-
Germline
-
0/428 controls
-
-
-
DNA
PCRq, SEQ
-
-
DFNB
-
PubMed: A.Pera 2008
Relative
M
-
Spain
-
-
-
-
-
1
Anne-Françoise Roux
+?/?
4
c.317C>A
r.(?)
p.(Ala106Asp)
Unknown
ACMG
VUS
g.107312595C>A
g.107672150C>A
-
-
SLC26A4_000084
heterozygous; Mutation
PubMed: C.Campbell 2001
; USMA-
missense variant in MSV3d
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
DFNB
-
PubMed: C.Campbell 2001
Proband
-
-
United States
-
-
-
-
-
1
Anne-Françoise Roux
+?/?
4
c.317C>A
r.(?)
p.(Ala106Asp)
Unknown
ACMG
VUS
g.107312595C>A
g.107672150C>A
-
-
SLC26A4_000084
heterozygous; Mutation
PubMed: C.Campbell 2001
; USMA-
missense variant in MSV3d
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
DFNB
-
PubMed: C.Campbell 2001
Relative, dizygotic twin with (US02833000012)
-
-
United States
-
-
-
-
-
1
Anne-Françoise Roux
+?/.
-
c.317C>T
r.(?)
p.(Ala106Val)
Both (homozygous)
ACMG
likely pathogenic (recessive)
g.107312595C>T
g.107672150C>T
-
-
SLC26A4_000272
-
PubMed: Richard 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
HL
DEM4511
PubMed: Richard 2019
-
-
yes
Pakistan
-
-
-
-
-
1
Johan den Dunnen
+/+
4
c.322del
r.(?)
p.(Leu108*)
Unknown
-
pathogenic
g.107312600del
g.107672155del
-
-
SLC26A4_000099
heterozygous; Likely pathogenic mutation
PubMed: K.Tsukamoto 2003
-
-
Germline
-
0/192 controls
-
-
-
DNA
SEQ
-
-
DFNB
-
PubMed: K.Tsukamoto 2003
Proband
-
-
Japan
-
-
-
-
-
1
Anne-Françoise Roux
+/+
4
c.322del
r.(?)
p.(Leu108*)
Unknown
-
pathogenic
g.107312600del
g.107672155del
-
-
SLC26A4_000099
heterozygous; Pathogenic
PubMed: S.Iwasaki 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
DFNB
-
PubMed: S.Iwasaki 2006
Proband
M
-
Japan
-
-
-
-
-
1
Anne-Françoise Roux
?/.
-
c.334C>T
r.(?)
p.(Pro112Ser)
Unknown
-
VUS
g.107312612C>T
-
-
-
SLC26A4_000254
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.347G>A
r.(?)
p.(Gly116Asp)
Unknown
-
VUS
g.107312625G>A
g.107672180G>A
SLC26A4(NM_000441.1):c.347G>A (p.G116D)
-
SLC26A4_000212
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.347G>A
r.(?)
p.(Gly116Asp)
Unknown
-
VUS
g.107312625G>A
-
SLC26A4(NM_000441.1):c.347G>A (p.G116D)
-
SLC26A4_000212
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
4
c.349C>T
r.(?)
p.(Leu117Phe)
Paternal (confirmed)
-
pathogenic
g.107312627C>T
g.107672182C>T
-
-
SLC26A4_000192
found in 1/50 controls (Ashkenazi); not found among ~4000 non-Ashkenazi Jews
-
-
-
Germline
yes
5/316 cases (hom), 1/316 cases (het)
-
-
-
DNA
SEQ-NG-I
blood
-
DFNB;ARNSHL
-
Karen Avraham Laboratory
DFNB4
-
no
Israel
Jewish-Ashkenazi;Egypt;Turkey
-
-
-
-
1
Zippi Brownstein
+/.
4
c.349C>T
r.(?)
p.(Leu117Phe)
Both (homozygous)
-
pathogenic
g.107312627C>T
g.107672182C>T
-
-
SLC26A4_000192
found in 1/50 controls (Ashkenazi); not in ~4000 non-Ashkenazi Jews
-
-
-
Germline
yes
5/316 cases (hom), 1/316 cases (het)
-
-
-
DNA
SEQ-NG-I
blood
-
DFNB;ARNSHL
-
Karen Avraham Laboratory
DFNB4
-
yes
Israel
Jewish-Ashkenazi
-
-
-
-
2
Zippi Brownstein
+/.
4
c.349C>T
r.(?)
p.(Leu117Phe)
Both (homozygous)
-
pathogenic
g.107312627C>T
g.107672182C>T
-
-
SLC26A4_000192
found in 1/50 controls (Ashkenazi); not in ~4000 non-Ashkenazi Jews
-
-
-
Germline
yes
5/316 cases (hom), 1/316 cases (het)
-
-
-
DNA
SEQ-NG-I
blood
-
DFNB;ARNSHL
-
Karen Avraham Laboratory
DFNB4
-
yes
Israel
Jewish-Ashkenazi
-
-
-
-
3
Zippi Brownstein
+?/?
4
c.367C>T
r.(?)
p.(Pro123Ser)
Unknown
ACMG
VUS
g.107312645C>T
g.107672200C>T
-
-
SLC26A4_000095
heterozygous; Likely pathogenic mutation
PubMed: K.Tsukamoto 2003
; USMA-
missense variant in MSV3d
-
-
Germline
-
0/192 controls
-
-
-
DNA
SEQ
-
-
DFNB
-
PubMed: K.Tsukamoto 2003
Proband
-
-
Japan
-
-
-
-
-
1
Anne-Françoise Roux
+/.
-
c.370_382del
r.(?)
p.(Ile124Leufs*17)
Unknown
-
pathogenic
g.107312648_107312660del
-
-
-
SLC26A4_000242
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.387del
r,(?)
p.(Phe130LeufsTer15)
Parent #1
-
pathogenic (recessive)
g.107312665del
g.107672220del
387delC
-
SLC26A4_000292
combination of alleles not reported
PubMed: Wu 2019
-
-
Germline
-
1/1291 cases hearing loss
-
-
-
DNA
SEQ, SEQ-NG
-
213-gene panel
HL
-
PubMed: Wu 2019
analysis 1291 cases hearing loss
-
-
Taiwan
-
-
-
-
-
1
Johan den Dunnen
+?/?
4
c.395C>T
r.(?)
p.(Thr132Ile)
Unknown
ACMG
VUS
g.107312673C>T
g.107672228C>T
-
-
SLC26A4_000065
heterozygous; Mutation
PubMed: López-Bigas N 2002
; USMA-
missense variant in MSV3d
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PDS;TDH2B
-
PubMed: López-Bigas N 2002
Proband
-
-
Italy
-
-
-
-
-
1
Anne-Françoise Roux
+/+
4
c.398C>A
r.(?)
p.(Ser133*)
Unknown
-
pathogenic
g.107312676C>A
g.107672231C>A
-
-
SLC26A4_000119
heterozygous; Mutation
PubMed: M.Ladsous 2014
; USMA-
missense variant in MSV3d
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
DFNB
-
PubMed: M.Ladsous 2014
Proband
F
-
France
-
-
-
-
-
1
Anne-Françoise Roux
?/.
-
c.404A>G
r.(?)
p.(His135Arg)
Unknown
-
VUS
g.107312682A>G
g.107672237A>G
-
-
SLC26A4_000228
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
4
c.407_411del
r.(?)
p.(Ile136Serfs*44)
Unknown
-
pathogenic
g.107312685_107312689del
g.107672240_107672244del
406del5 (FS135/X179)
-
SLC26A4_000070
heterozygous; Pathogenic
PubMed: López-Bigas N 2002
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
PDS;TDH2B
-
PubMed: López-Bigas N 2002
Proband
-
-
Spain
-
-
-
-
-
1
Anne-Françoise Roux
+/.
-
c.412G>T
r.(?)
p.(Val138Phe)
Unknown
-
pathogenic
g.107312690G>T
g.107672245G>T
-
-
SLC26A4_000155
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
4
c.412G>T
r.(?)
p.(Val138Phe)
Unknown
-
pathogenic
g.107312690G>T
g.107672245G>T
-
-
SLC26A4_000072
heterozygous; Mutation
PubMed: C.Campbell 2001
; USMA-
missense variant in MSV3d
-
rs111033313
Germline
-
-
-
-
-
DNA
SEQ
-
-
DFNB
-
PubMed: C.Campbell 2001
Proband
-
-
United States
-
-
-
-
-
1
Anne-Françoise Roux
+/+
4
c.412G>T
r.(?)
p.(Val138Phe)
Unknown
-
pathogenic
g.107312690G>T
g.107672245G>T
-
-
SLC26A4_000072
heterozygous; Mutation
PubMed: A.Pera 2008
; USMA-
missense variant in MSV3d
-
rs111033313
Germline
-
0/428 controls
-
-
-
DNA
SEQ
-
-
DFNB
-
PubMed: A.Pera 2008
Proband
M
-
Spain
-
-
-
-
-
1
Anne-Françoise Roux
+/+
4
c.412G>T
r.(?)
p.(Val138Phe)
Unknown
-
pathogenic
g.107312690G>T
g.107672245G>T
-
-
SLC26A4_000072
heterozygous; Mutation
PubMed: A.Pera 2008
; USMA-
missense variant in MSV3d
-
rs111033313
Germline
-
0/428 controls
-
-
-
DNA
SEQ
-
-
DFNB
-
PubMed: A.Pera 2008
Relative
M
-
Spain
-
-
-
-
-
1
Anne-Françoise Roux
+/+
4
c.412G>T
r.(?)
p.(Val138Phe)
Unknown
-
pathogenic
g.107312690G>T
g.107672245G>T
Pathogenic, functional studies showed no activity of mutant pendrin (Taylor JP et al;2002)
-
SLC26A4_000072
heterozygous; Pathogenic
PubMed: B.Choi 2009
; USMA-
missense variant in MSV3d
-
rs111033313
Germline
-
-
-
-
-
DNA
SEQ
-
-
DFNB
-
PubMed: B.Choi 2009
Proband
M
-
United States
-
-
-
-
-
1
Anne-Françoise Roux
+/+
4
c.412G>T
r.(?)
p.(Val138Phe)
Unknown
-
pathogenic
g.107312690G>T
g.107672245G>T
-
-
SLC26A4_000072
heterozygous; loss of function mutation (Taylor ,2002); Pathogenic
PubMed: B.Choi 2009
; USMA-
missense variant in MSV3d
-
rs111033313
Germline
-
-
-
-
-
DNA
SEQ
-
-
DFNB
-
PubMed: B.Choi 2009
Proband
F
-
United States
-
-
-
-
-
1
Anne-Françoise Roux
+/+
4
c.412G>T
r.(?)
p.(Val138Phe)
Unknown
-
pathogenic
g.107312690G>T
g.107672245G>T
-
-
SLC26A4_000072
heterozygous; Mutation
PubMed: V.de Moraes 2013
; USMA-
missense variant in MSV3d
-
rs111033313
Germline
-
-
-
-
-
DNA
SEQ
-
-
DFNB
-
PubMed: V.de Moraes 2013
Relative
-
-
United States
-
-
-
-
-
1
Anne-Françoise Roux
+/+
4
c.412G>T
r.(?)
p.(Val138Phe)
Unknown
-
pathogenic
g.107312690G>T
g.107672245G>T
-
-
SLC26A4_000072
heterozygous; Pathogenic
PubMed: V.de Moraes 2013
; USMA-
missense variant in MSV3d
-
rs111033313
Germline
-
0/60 controls
-
-
-
DNA
SEQ
-
-
DFNB
-
PubMed: V.de Moraes 2013
Proband
F
-
Brazil
-
-
-
-
-
1
Anne-Françoise Roux
+/+
4
c.412G>T
r.(?)
p.(Val138Phe)
Unknown
-
pathogenic
g.107312690G>T
g.107672245G>T
-
-
SLC26A4_000072
heterozygous; Pathogenic
PubMed: M.Ladsous 2014
; USMA-
missense variant in MSV3d
-
rs111033313
Germline
-
0/200 controls
-
-
-
DNA
SEQ
-
-
PDS;TDH2B
-
PubMed: M.Ladsous 2014
Proband
F
-
France
-
-
-
-
-
1
Anne-Françoise Roux
+/+
4
c.412G>T
r.(?)
p.(Val138Phe)
Unknown
-
pathogenic
g.107312690G>T
g.107672245G>T
-
-
SLC26A4_000072
heterozygous; Pathogenic
PubMed: M.Ladsous 2014
; USMA-
missense variant in MSV3d
-
rs111033313
Germline
-
0/200 controls
-
-
-
DNA
SEQ
-
-
PDS;TDH2B
-
PubMed: M.Ladsous 2014
Proband
M
-
France
-
-
-
-
-
1
Anne-Françoise Roux
+/+
4
c.412G>T
r.(?)
p.(Val138Phe)
Unknown
-
pathogenic
g.107312690G>T
g.107672245G>T
-
-
SLC26A4_000072
heterozygous; Pathogenic
PubMed: M.Ladsous 2014
; USMA-
missense variant in MSV3d
-
rs111033313
Germline
-
0/200 controls
-
-
-
DNA
SEQ
-
-
PDS;TDH2B
-
PubMed: M.Ladsous 2014
Relative
M
-
France
-
-
-
-
-
1
Anne-Françoise Roux
+?/.
4
c.412G>T
r.(?)
p.(Val138Phe)
Maternal (confirmed)
ACMG
pathogenic (recessive)
g.107312690G>T
-
-
-
SLC26A4_000072
compound heterozygous
PubMed: Batissoco 2021
ClinVar-SCV001792213
,
ClinVar-4835
rs111033199
Germline
yes
-
-
-
-
DNA
SEQ
Blood
-
HL
-
Karina Lezirovitz Lab
-
F
no
Brazil
Brazilian admixed
>09y
-
-
-
1
Karina Lezirovitz Mandelbaum
+?/.
-
c.412G>T
r.(?)
p.(Val138Phe)
Maternal (confirmed)
ACMG
pathogenic (recessive)
g.107312690G>T
-
-
-
SLC26A4_000072
-
PubMed: Batissoco 2021
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
HL
S1
PubMed: Batissoco 2021
-
F
-
Brazil
-
-
-
-
-
1
Karina Lezirovitz Mandelbaum
+?/.
-
c.412G>T
r.(?)
p.(Val138Phe)
Unknown
-
likely pathogenic
g.107312690G>T
-
-
-
SLC26A4_000072
-
-
-
rs111033199
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.413T>A
r.(?)
p.(Val138Asp)
Both (homozygous)
-
pathogenic (recessive)
g.107312691T>A
g.107672246T>A
-
-
SLC26A4_000273
-
PubMed: Richard 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
HL
DEM4014A
PubMed: Richard 2019
-
-
yes
Pakistan
-
-
-
-
-
1
Johan den Dunnen
+/+
4
c.414del
r.(?)
p.(Gly139Aspfs*6)
Unknown
-
pathogenic
g.107312692del
g.107672247del
-
-
SLC26A4_000052
heterozygous; Mutation
PubMed: Huang S 2011
-
-
Germline
-
0/400 controls
-
-
-
DNA
SEQ
-
-
DFNB
-
PubMed: Huang S 2011
Proband
-
-
China
-
-
-
-
-
1
Anne-Françoise Roux
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