Global Variome shared LOVD
NPHP1 (nephronophthisis 1 (juvenile))
LOVD v.3.0 Build 30b [
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Global Variome, with Curator vacancy
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Full data view for gene NPHP1
This database is one of the
"Eye disease"
gene variant databases.
The variants shown are described using the
NM_000272.3
NM_001128178.1
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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288 entries on 3 pages. Showing entries 1 - 100.
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Effect
Exon
DNA change (cDNA)
RNA change
Protein
Allele
Classification method
Clinical classification
DNA change (genomic) (hg19)
DNA change (hg38)
Published as
ISCN
DB-ID
Variant remarks
Reference
ClinVar ID
dbSNP ID
Origin
Segregation
Frequency
Re-site
VIP
Methylation
Template
Technique
Tissue
Remarks
Disease
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Panel size
Owner
+?/.
-
c.(?_-94)_(*455_?)
r.0
p.0
Unknown
-
likely pathogenic
g.?
g.?
common NPHP1 deletion
-
SNRNP200_000007
-
PubMed: Brooks 2018
RCV000003688.3
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome
retinal disease
438
PubMed: Brooks 2018
family 66
M
-
United States
-
-
-
-
-
1
LOVD
+?/.
-
c.(?_-94)_(*455_?)
r.0
p.0
Unknown
-
likely pathogenic
g.?
g.?
common NPHP1 deletion
-
SNRNP200_000007
-
PubMed: Brooks 2018
RCV000003688.3
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome
retinal disease
463
PubMed: Brooks 2018
family 67
F
-
United States
-
-
-
-
-
1
LOVD
+?/.
-
c.(?_-94)_(*455_?)
r.0
p.0
Unknown
-
likely pathogenic
g.?
g.?
common NPHP1 deletion
-
SNRNP200_000007
-
PubMed: Brooks 2018
RCV000003688.3
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome
retinal disease
462
PubMed: Brooks 2018
family 67
M
-
United States
-
-
-
-
-
1
LOVD
+/.
-
c.-94_*455{0}
r.0
p.0
Both (homozygous)
-
pathogenic
g.(?_110880913)_(110962639_?)del
g.(?_110123336)_(110205062_?)del
NPHP1 deletion
-
NPHP1_000075
-
PubMed: Bachmann-Gagescu 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
27-gene panel
JBTS
UW019-3
PubMed: Bachmann-Gagescu 2015
patient
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.-94_*455{0}
r.0
p.0
Both (homozygous)
-
pathogenic
g.(?_110880913)_(110962639_?)del
g.(?_110123336)_(110205062_?)del
NPHP1 deletion
-
NPHP1_000075
-
PubMed: Bachmann-Gagescu 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
27-gene panel
JBTS
UW023-1
PubMed: Bachmann-Gagescu 2015
patient
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.-94_*455{0}
r.0
p.0
Both (homozygous)
-
pathogenic
g.(?_110880913)_(110962639_?)del
g.(?_110123336)_(110205062_?)del
NPHP1 deletion
-
NPHP1_000075
-
PubMed: Bachmann-Gagescu 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
27-gene panel
JBTS
UW229-3
PubMed: Bachmann-Gagescu 2015
patient
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.-94_*455{0}
r.0
p.0
Both (homozygous)
-
pathogenic
g.(?_110880913)_(110962639_?)del
g.(?_110123336)_(110205062_?)del
NPHP1 deletion
-
NPHP1_000075
-
PubMed: Bachmann-Gagescu 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
27-gene panel
JBTS
UW247-3
PubMed: Bachmann-Gagescu 2015
patient
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.-94_*455{0}
r.0
p.0
Both (homozygous)
-
pathogenic
g.(?_110880913)_(110962639_?)del
g.(?_110123336)_(110205062_?)del
NPHP1 deletion
-
NPHP1_000075
-
PubMed: Bachmann-Gagescu 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
27-gene panel
JBTS
UW264-3
PubMed: Bachmann-Gagescu 2015
patient
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
NPHP1Del
NA
p.?
Both (homozygous)
-
pathogenic (recessive)
g.?
-
-
-
SNRNP200_000007
-
PubMed: Srour 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
JBTS
Fam604Pat1712,604
PubMed: Srour 2015
-
F
-
Canada
French-Canadian
-
-
-
-
1
LOVD
+/.
-
c.-4984_*5679del
r.0?
p.0?
Both (homozygous)
-
pathogenic
g.110875689_110967529del
-
del whole gene
-
NPHP1_000081
91,840 bp deletion
PubMed: Lindstrand 2016
-
-
Germline
-
-
-
-
-
DNA
arrayCGH, PCRlr, SEQ-NG
-
-
BBS
RC2-0311
PubMed: Lindstrand 2016
-
M
yes
United States
-
-
-
-
-
1
LOVD
+/.
-
c.-4984_*5679del
r.0?
p.0?
Maternal (confirmed)
-
pathogenic
g.110875689_110967529del
-
del whole gene
-
NPHP1_000081
91,840 bp deletion
PubMed: Lindstrand 2016
-
-
Germline
-
-
-
-
-
DNA
arrayCGH, PCRlr, SEQ-NG
-
-
BBS
AR704-0311
PubMed: Lindstrand 2016
-
F
no
United States
-
-
-
-
-
1
LOVD
+/.
-
c.-4984_*5679del
r.0?
p.0?
Maternal (confirmed)
-
pathogenic
g.110875689_110967529del
-
del whole gene
-
NPHP1_000081
91,840 bp deletion
PubMed: Lindstrand 2016
-
-
Germline
-
-
-
-
-
DNA
arrayCGH, PCRlr, SEQ-NG
-
-
BBS
44/311
PubMed: Lindstrand 2016
-
M
no
United States
-
-
-
-
-
1
LOVD
+?/.
-
c.(?_-215)_(*582_?)del
r.0
p.0
Both (homozygous)
-
likely pathogenic
g.?
g.?
-
-
SNRNP200_000007
NPHP1 deletion
PubMed: Hussain 2018
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
N1
PubMed: Hussain 2018
-
?
-
Pakistan
-
-
-
-
-
1
LOVD
+?/.
-
c.(?_-215)_(*582_?)del
r.0
p.0
Both (homozygous)
-
likely pathogenic
g.?
g.?
-
-
SNRNP200_000007
NPHP1 deletion
PubMed: Hussain 2018
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
N3
PubMed: Hussain 2018
-
?
-
Pakistan
-
-
-
-
-
1
LOVD
+?/.
-
c.(?_-215)_(*582_?)del
r.0
p.0
Both (homozygous)
-
likely pathogenic
g.?
g.?
-
-
SNRNP200_000007
NPHP1 deletion
PubMed: Hussain 2018
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
N4
PubMed: Hussain 2018
-
?
-
Pakistan
-
-
-
-
-
1
LOVD
+?/.
-
c.(?_-215)_(*582_?)del
r.0
p.0
Both (homozygous)
-
likely pathogenic
g.?
g.?
-
-
SNRNP200_000007
NPHP1 deletion
PubMed: Hussain 2018
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
N7
PubMed: Hussain 2018
-
?
-
Pakistan
-
-
-
-
-
1
LOVD
+?/.
-
c.(?_-215)_(*582_?)del
r.0
p.0
Both (homozygous)
-
likely pathogenic
g.?
g.?
-
-
SNRNP200_000007
NPHP1 deletion
PubMed: Hussain 2018
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
N8
PubMed: Hussain 2018
-
?
-
Pakistan
-
-
-
-
-
1
LOVD
+?/.
-
c.(?_-215)_(*582_?)del
r.0
p.0
Both (homozygous)
-
likely pathogenic
g.?
g.?
-
-
SNRNP200_000007
NPHP1 deletion
PubMed: Hussain 2018
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
N13
PubMed: Hussain 2018
-
?
-
Pakistan
-
-
-
-
-
1
LOVD
+?/+?
1_20
c.(?_-94)_(*455_?)del
r.?
p.?
Both (homozygous)
-
likely pathogenic (recessive)
g.110880913_110962639del
-
Del, hom
-
NPHP1_000085
-
PubMed: Tory 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Tory 2007
-
-
-
France
French
-
-
-
-
1
Julia Lopez
+?/+?
1_20
c.(?_-94)_(*455_?)del
r.?
p.?
Both (homozygous)
-
likely pathogenic (recessive)
g.110880913_110962639del
-
Del, hom
-
NPHP1_000085
-
PubMed: Tory 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Tory 2007
-
-
-
France
French
-
-
-
-
1
Julia Lopez
+?/+?
1_20
c.(?_-94)_(*455_?)del
r.?
p.?
Both (homozygous)
-
likely pathogenic (recessive)
g.110880913_110962639del
-
Del, hom
-
NPHP1_000085
-
PubMed: Tory 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Tory 2007
-
-
-
France
French
-
-
-
-
1
Julia Lopez
+?/+?
1_20
c.(?_-94)_(*455_?)del
r.?
p.?
Both (homozygous)
-
likely pathogenic (recessive)
g.110880913_110962639del
-
Del, hom
-
NPHP1_000085
-
PubMed: Tory 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Tory 2007
-
-
-
France
French
-
-
-
-
1
Julia Lopez
+?/+?
1_20
c.(?_-94)_(*455_?)del
r.?
p.?
Both (homozygous)
-
likely pathogenic (recessive)
g.110880913_110962639del
-
Del, hom
-
NPHP1_000085
-
PubMed: Tory 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Tory 2007
-
-
-
France
French
-
-
-
-
1
Julia Lopez
+?/+?
1_20
c.(?_-94)_(*455_?)del
r.?
p.?
Both (homozygous)
-
likely pathogenic (recessive)
g.110880913_110962639del
-
Del, hom
-
NPHP1_000085
-
PubMed: Tory 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Tory 2007
-
-
yes
Morocco
-
-
-
-
-
1
Julia Lopez
+?/+?
1_20
c.(?_-94)_(*455_?)del
r.?
p.?
Both (homozygous)
-
likely pathogenic (recessive)
g.110880913_110962639del
-
Del, hom
-
NPHP1_000085
-
PubMed: Tory 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Tory 2007
-
-
-
France
-
-
-
-
-
1
Julia Lopez
+?/+?
1_20
c.(?_-94)_(*455_?)del
r.?
p.?
Both (homozygous)
-
likely pathogenic (recessive)
g.110880913_110962639del
-
Del, hom
-
NPHP1_000085
-
PubMed: Tory 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Tory 2007
-
-
-
France
-
-
-
-
-
1
Julia Lopez
+?/+?
1_20
c.(?_-94)_(*455_?)del
r.?
p.?
Both (homozygous)
-
likely pathogenic (recessive)
g.110880913_110962639del
-
Del, hom
-
NPHP1_000085
-
PubMed: Tory 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Tory 2007
-
-
-
France
-
-
-
-
-
1
Julia Lopez
+?/+?
1_20
c.(?_-94)_(*455_?)del
r.?
p.?
Both (homozygous)
-
likely pathogenic (recessive)
g.110880913_110962639del
-
Del, hom
-
NPHP1_000085
-
PubMed: Tory 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Tory 2007
-
-
yes
Senegal
-
-
-
-
-
1
Julia Lopez
+?/+?
1_20
c.(?_-94)_(*455_?)del
r.?
p.?
Both (homozygous)
-
likely pathogenic (recessive)
g.110880913_110962639del
-
Del, hom
-
NPHP1_000085
-
PubMed: Tory 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Tory 2007
-
-
-
-
-
-
-
-
-
1
Julia Lopez
+?/+?
1_20
c.(?_-94)_(*455_?)del
r.?
p.?
Both (homozygous)
-
likely pathogenic (recessive)
g.110880913_110962639del
-
Del, hom
-
NPHP1_000085
-
PubMed: Tory 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Tory 2007
-
-
-
France
-
-
-
-
-
1
Julia Lopez
+?/+?
1_20
c.(?_-94)_(*455_?)del
r.?
p.?
Both (homozygous)
-
likely pathogenic (recessive)
g.110880913_110962639del
-
Del, hom
-
NPHP1_000085
-
PubMed: Tory 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Tory 2007
-
-
-
-
-
-
-
-
-
1
Julia Lopez
+?/+?
1_20
c.(?_-94)_(*455_?)del
r.?
p.?
Parent #1
-
likely pathogenic (recessive)
g.110880913_110962639del
-
Del, hetc.1027 G>A, het.
-
NPHP1_000085
-
PubMed: Tory 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Tory 2007
-
-
-
France
-
-
-
-
-
1
Julia Lopez
+/.
-
c.-94_*455{0}
r.0
p.0
Both (homozygous)
-
pathogenic (dominant)
g.(?_110880913)_(110962639_?)del
g.(?_110123336)_(110205062_?)del
NPHP1 deletion
-
NPHP1_000075
-
PubMed: Al Alawi 2019
,
Journal: Al Alawi 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
gene panel
PKD
P46
PubMed: Al Alawi 2019
,
Journal: Al Alawi 2019
-
F
-
Oman
-
-
-
-
-
1
Intisar Al Alawi
+/.
-
c.-94_*455{0}
r.0
p.0
Both (homozygous)
-
pathogenic (dominant)
g.(?_110880913)_(110962639_?)del
g.(?_110123336)_(110205062_?)del
NPHP1 deletion
-
NPHP1_000075
-
PubMed: Al Alawi 2019
,
Journal: Al Alawi 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
gene panel
PKD
P48
PubMed: Al Alawi 2019
,
Journal: Al Alawi 2019
-
M
-
Oman
-
-
-
-
-
1
Intisar Al Alawi
+/.
-
c.-94_*455{0}
r.0
p.0
Both (homozygous)
-
pathogenic (dominant)
g.(?_110880913)_(110962639_?)del
g.(?_110123336)_(110205062_?)del
NPHP1 deletion
-
NPHP1_000075
-
PubMed: Al Alawi 2019
,
Journal: Al Alawi 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
gene panel
PKD
P50
PubMed: Al Alawi 2019
,
Journal: Al Alawi 2019
-
F
-
Oman
-
-
-
-
-
1
Intisar Al Alawi
+?/.
1_20
c.0
r.0
p.0
Both (homozygous)
-
likely pathogenic
g.(?_110880913)_(110962639_?)del
-
NPHP1 del
-
NPHP1_000075
-
PubMed: Lindstrand-2014
-
-
Germline
-
-
-
-
-
DNA
arrayCGH, SEQ, TaqMan
-
-
retinal disease
RC2-03
PubMed: Lindstrand-2014
-
M
-
-
Latino
-
-
-
-
1
LOVD
+?/.
1_20
c.0
r.0
p.0
Unknown
-
likely pathogenic
g.(?_110880913)_(110962639_?)del
-
NPHP1 del
-
NPHP1_000075
-
PubMed: Lindstrand-2014
-
-
Germline
-
-
-
-
-
DNA
arrayCGH, SEQ, TaqMan
-
-
retinal disease
AR704-03
PubMed: Lindstrand-2014
-
F
-
-
N.European
-
-
-
-
1
LOVD
+?/.
1_20
c.0
r.0
p.0
Unknown
-
likely pathogenic
g.(?_110880913)_(110962639_?)del
-
NPHP1 del
-
NPHP1_000075
-
PubMed: Lindstrand-2014
-
-
Germline
-
-
-
-
-
DNA
arrayCGH, SEQ, TaqMan
-
-
retinal disease
AR704-04
PubMed: Lindstrand-2014
-
F
-
-
N.European
-
-
-
-
1
LOVD
+?/.
1_20
c.0
r.0
p.0
Unknown
-
likely pathogenic
g.(?_110880913)_(110962639_?)del
-
NPHP1 del
-
NPHP1_000075
-
PubMed: Lindstrand-2014
-
-
Germline
-
-
-
-
-
DNA
arrayCGH, SEQ, TaqMan
-
-
retinal disease
44/3
PubMed: Lindstrand-2014
-
M
-
Israel
Israeli
-
-
-
-
1
LOVD
+?/.
1_20
c.0
r.0
p.0
Unknown
-
likely pathogenic
g.(?_110880913)_(110962639_?)del
-
NPHP1 del
-
NPHP1_000075
-
PubMed: Lindstrand-2014
-
-
Germline
-
-
-
-
-
DNA
arrayCGH, SEQ, TaqMan
-
-
retinal disease
44/4
PubMed: Lindstrand-2014
-
F
-
Israel
Israeli
-
-
-
-
1
LOVD
+/.
-
c.(?_-46-1)_(*1481_?)del
r.0
p.0
Both (homozygous)
-
pathogenic
g.(?_110962591)_(110879887_?)del
g.?
deletion including NPHP1 - c.(?_-1)_(*1_?)del
-
NPHP1_000116
homozygous
PubMed: Javorszky 2017
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
NPHP1
F10
PubMed: Javorszky 2017
family 10
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.(?_-46-1)_(*1481_?)del
r.0
p.0
Both (homozygous)
-
pathogenic
g.(?_110962591)_(110879887_?)del
g.?
deletion including NPHP1 - c.(?_-1)_(*1_?)del
-
NPHP1_000116
homozygous
PubMed: Javorszky 2017
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
NPHP1
F12
PubMed: Javorszky 2017
family 12
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.(?_-46-1)_(*1481_?)del
r.0
p.0
Both (homozygous)
-
pathogenic
g.(?_110962591)_(110879887_?)del
g.?
deletion including NPHP1 - c.(?_-1)_(*1_?)del
-
NPHP1_000116
homozygous
PubMed: Javorszky 2017
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
NPHP1
F15
PubMed: Javorszky 2017
family 15
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.(?_-46-1)_(*1481_?)del
r.0
p.0
Both (homozygous)
-
pathogenic
g.(?_110962591)_(110879887_?)del
g.?
deletion including NPHP1 - c.(?_-1)_(*1_?)del
-
NPHP1_000116
homozygous
PubMed: Javorszky 2017
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
NPHP1
F63
PubMed: Javorszky 2017
family 63
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.(?_-46-1)_(*1481_?)del
r.0
p.0
Both (homozygous)
-
pathogenic
g.(?_110962591)_(110879887_?)del
g.?
deletion including NPHP1 - c.(?_-1)_(*1_?)del
-
NPHP1_000116
homozygous
PubMed: Javorszky 2017
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
NPHP1
F67
PubMed: Javorszky 2017
family 67
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.(?_-46-1)_(*1481_?)del
r.0
p.0
Both (homozygous)
-
pathogenic
g.(?_110962591)_(110879887_?)del
g.?
deletion including NPHP1 - c.(?_-1)_(*1_?)del
-
NPHP1_000116
homozygous
PubMed: Javorszky 2017
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
NPHP1
F70
PubMed: Javorszky 2017
family 70
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.(?_-46-1)_(*1481_?)del
r.0
p.0
Maternal (confirmed)
-
pathogenic
g.(?_110962591)_(110879887_?)del
g.?
deletion including NPHP1 - c.(?_-1)_(*1_?)del
-
NPHP1_000116
maternal allele, heterozygous
PubMed: Javorszky 2017
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
NPHP1
F84
PubMed: Javorszky 2017
family 84
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.(?_-46-1)_(*1481_?)del
r.0
p.0
Both (homozygous)
-
pathogenic
g.(?_110962591)_(110879887_?)del
g.?
deletion including NPHP1 - c.(?_-1)_(*1_?)del
-
NPHP1_000116
homozygous
PubMed: Javorszky 2017
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
NPHP1
F97
PubMed: Javorszky 2017
family 97
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.(?_-46-1)_(*1481_?)del
r.0
p.0
Both (homozygous)
-
pathogenic
g.(?_110962591)_(110879887_?)del
g.?
deletion including NPHP1 - c.(?_-1)_(*1_?)del
-
NPHP1_000116
homozygous
PubMed: Javorszky 2017
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
NPHP1
F158
PubMed: Javorszky 2017
family 158
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.(?_-46-1)_(*1481_?)del
r.0
p.0
Maternal (confirmed)
-
pathogenic
g.(?_110962591)_(110879887_?)del
g.?
deletion including NPHP1 - c.(?_-1)_(*1_?)del
-
NPHP1_000116
homozygous
PubMed: Javorszky 2017
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
NPHP1
F36
PubMed: Javorszky 2017
family 36
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.(?_-46-1)_(*1481_?)del
r.0
p.0
Maternal (confirmed)
-
pathogenic
g.(?_110962591)_(110879887_?)del
g.?
deletion including NPHP1 - c.(?_-1)_(*1_?)del
-
NPHP1_000116
homozygous
PubMed: Javorszky 2017
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
NPHP1
F38
PubMed: Javorszky 2017
family 38
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.(?_-46-1)_(*1481_?)del
r.0
p.0
Unknown
-
pathogenic
g.(?_110962591)_(110879887_?)del
g.?
deletion including NPHP1 - c.(?_-1)_(*1_?)del
-
NPHP1_000116
homozygous
PubMed: Javorszky 2017
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
NPHP1
F249
PubMed: Javorszky 2017
family 249
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.(?_-46-1)_(*1481_?)del
r.0
p.0
Maternal (confirmed)
-
pathogenic
g.(?_110962591)_(110879887_?)del
g.?
deletion including NPHP1 - c.(?_-1)_(*1_?)del
-
NPHP1_000116
homozygous
PubMed: Javorszky 2017
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
NPHP1
F106
PubMed: Javorszky 2017
family 106
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.(?_-46-1)_(*1481_?)del
r.0
p.0
Paternal (confirmed)
-
pathogenic
g.(?_110962591)_(110879887_?)del
g.?
deletion including NPHP1 - c.(?_-1)_(*1_?)del
-
NPHP1_000116
homozygous
PubMed: Javorszky 2017
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
NPHP1
F203
PubMed: Javorszky 2017
family 203
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.(?_-46-1)_(*1481_?)del
r.0
p.0
Unknown
-
pathogenic
g.(?_110962591)_(110879887_?)del
g.?
deletion including NPHP1 - c.(?_-1)_(*1_?)del
-
NPHP1_000116
de novo allele, heterozygous
PubMed: Javorszky 2017
-
-
De novo
yes
-
-
-
-
DNA
?
-
-
NPHP1
F84
PubMed: Javorszky 2017
family 84
-
-
-
-
-
-
-
-
1
LOVD
+/.
_1_20_
c.(?_-1)_(*1_?)del
r.?
p.?
Both (homozygous)
-
pathogenic
g.(?_110881368)_(110962545_?)del
-
chr2:110881368-?_110962545+?del
-
NPHP1_000088
-
PubMed: Ganapathy 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
TruSight One panel
?
S-5367
PubMed: Ganapathy 2019
-
-
-
India
-
-
-
-
-
1
Johan den Dunnen
-?/.
1_20
c.-94_*455{2}
r.?
p.?
Unknown
-
likely benign
g.(?_110881363)_(110962550_?)dup
-
chr2:110881363–110962550dup
-
NPHP1_000099
-
PubMed: Ellingsford 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
CNV gene panel next-generation sequencing
retinal disease
14015751
PubMed: Ellingsford 2018
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
LOVD
-?/.
1_20
c.-94_*455{2}
r.?
p.?
Unknown
-
likely benign
g.(?_110881363)_(110962550_?)dup
-
chr2:110881363–110962550dup
-
NPHP1_000099
-
PubMed: Ellingsford 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
CNV gene panel next-generation sequencing
retinal disease
14018818
PubMed: Ellingsford 2018
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
LOVD
-?/.
1_20
c.-94_*455{2}
r.?
p.?
Unknown
-
likely benign
g.(?_110881363)_(110962550_?)dup
-
chr2:110881363–110962550dup
-
NPHP1_000099
-
PubMed: Ellingsford 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
CNV gene panel next-generation sequencing
retinal disease
15008560
PubMed: Ellingsford 2018
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
LOVD
+?/.
_1_20_
c.-94_*455{0}
r.0?
p.0?
Unknown
-
likely pathogenic
g.(?_110881363)_(110962550_?)del
-
chr2:110881363–110962550del
-
NPHP1_000098
-
PubMed: Ellingsford 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
CNV gene panel next-generation sequencing
retinal disease
14009753
PubMed: Ellingsford 2018
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
LOVD
+/.
-
c.0
NA
p.?
Unknown
-
pathogenic (recessive)
g.?
-
-
-
SNRNP200_000007
-
PubMed: Srour 2015
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
JBTS
Fam476Pat1310,476
PubMed: Srour 2015
-
M
-
Canada
French-Canadian
-
-
-
-
1
LOVD
?/.
-
c.0
r.0
p.0
Both (homozygous)
-
VUS
g.?
-
complete deletion of the NPHP1 gene
-
SNRNP200_000007
-
PubMed: Bifari 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG, SEQ
blood
-
retinal disease
-
PubMed: Bifari 2015
Excels in school
M
yes
Saudi Arabia
Saudi
-
-
-
-
1
LOVD
+/.
-
c.0
r.0
p.0
Unknown
-
pathogenic
g.?
-
Wholegenedeletion
-
SNRNP200_000007
-
PubMed: Wang 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG, arrayCGH, SEQ
blood
-
retinal disease
5
PubMed: Wang 2016
-
F
-
United States
-
-
-
-
-
1
LOVD
+/.
-
c.0
r.0
p.0
Both (homozygous)
-
pathogenic
g.?
g,?
NPHP1 Total deletion (Hom)
-
NPHP1_000075
homozygous
PubMed: Kang 2016
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I
-
targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD
retinal disease
J-104
PubMed: Kang 2016
-
?
-
Korea, South (Republic)
-
-
-
-
-
1
LOVD
+/.
-
c.0
r.(?)
p.0
Unknown
-
pathogenic
g.?
g,?
NPHP1 Total deletion
-
NPHP1_000075
heterozygous
PubMed: Kang 2016
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I
-
targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD
retinal disease
J-39
PubMed: Kang 2016
-
?
-
Korea, South (Republic)
-
-
-
-
-
1
LOVD
+/.
-
c.0
r.0
p.0
Both (homozygous)
-
pathogenic
g.?
g,?
NPHP1 Total deletion (Hom)
-
NPHP1_000075
homozygous
PubMed: Kang 2016
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I
-
targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD
retinal disease
J-57
PubMed: Kang 2016
-
?
-
Korea, South (Republic)
-
-
-
-
-
1
LOVD
+/.
-
c.0
r.0
p.0
Both (homozygous)
-
pathogenic
g.?
g,?
NPHP1 Total deletion (Hom)
-
NPHP1_000075
homozygous
PubMed: Kang 2016
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I
-
targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD
retinal disease
J-92
PubMed: Kang 2016
-
?
-
Korea, South (Republic)
-
-
-
-
-
1
LOVD
+/.
-
c.0
r.0
p.0
Both (homozygous)
-
pathogenic
g.?
g,?
NPHP1 Total deletion (Hom)
-
NPHP1_000075
homozygous
PubMed: Kang 2016
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I
-
targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD
retinal disease
K-1
PubMed: Kang 2016
-
?
-
Korea, South (Republic)
-
-
-
-
-
1
LOVD
+?/.
-
c.0
r.0
p.0
Both (homozygous)
-
likely pathogenic
g.?
g.?
NPHP1 total deletion
-
SNRNP200_000007
homozygous
PubMed: Betz 2000
-
-
Germline
yes
-
-
-
-
DNA
PCR, SEQ
-
-
NPHP1
Patient 1
PubMed: Betz 2000
family F410, proband
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.0
r.0
p.0
Paternal (confirmed)
-
likely pathogenic
g.?
g.?
NPHP1 total deletion
-
SNRNP200_000007
heterozygous
PubMed: Betz 2000
-
-
Germline
yes
-
-
-
-
DNA
PCR, SSCA, SEQ
-
-
NPHP1
Patient 2
PubMed: Betz 2000
family F232, proband
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.0
r.0
p.0
Both (homozygous)
-
likely pathogenic
g.?
g.?
NPHP1 total deletion
-
SNRNP200_000007
homozygous
PubMed: Takano 2002
-
-
Germline
yes
-
-
-
-
DNA
PCR
blood
-
NPHP1
?
PubMed: Takano 2002
-
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.0
r.0
p.0
Both (homozygous)
-
likely pathogenic
g.?
g.?
deletion including LOC205251, NPHP1, and all but the 3 portion of the BENE gene
-
SNRNP200_000007
homozygous
PubMed: Parisi 2004
-
-
Germline
yes
-
-
-
-
DNA
PCR
blood
-
JBTS4
K76-1
PubMed: Parisi 2004
-
F
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.0
r.0
p.0
Both (homozygous)
-
likely pathogenic
g.?
g.?
deletion including LOC205251, NPHP1, and all but the 3 portion of the BENE gene
-
SNRNP200_000007
homozygous
PubMed: Parisi 2004
-
-
Germline
yes
-
-
-
-
DNA
PCR
blood
-
JBTS4
K76-2
PubMed: Parisi 2004
-
F
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.0
r.0
p.0
Both (homozygous)
-
likely pathogenic
g.?
g.?
deletion including LOC205251, NPHP1, and all but the 3 portion of the BENE gene
-
SNRNP200_000007
homozygous
PubMed: Parisi 2004
-
-
Germline
yes
-
-
-
-
DNA
PCR
blood
-
JBTS4
K84-1
PubMed: Parisi 2004
-
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.0
r.0
p.0
Parent #1
-
likely pathogenic
g.?
g.?
deletion including LOC205251, NPHP1, and all but the 3 portion of the BENE gene
-
SNRNP200_000007
homozygous
PubMed: Parisi 2004
-
-
Germline
yes
-
-
-
-
DNA
PCR
blood
-
JBTS4
K89-1
PubMed: Parisi 2004
-
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.0
r.0
p.0
Both (homozygous)
-
likely pathogenic
g.?
g.?
deletion including NPHP1
-
SNRNP200_000007
homozygous
PubMed: Castori 2005
-
-
Germline
?
1 in 40 tested Joubert syndrome probands
-
-
-
DNA
PCR
blood
-
JBTS4
?
PubMed: Castori 2005
-
F
no
-
Italian
-
-
-
-
1
LOVD
+/.
-
c.0
r.(?)
p.0
Paternal (confirmed)
-
pathogenic
g.?
g.?
deletion including NPHP1
-
SNRNP200_000007
heterozygous
PubMed: Caridi 2006
-
-
Germline
yes
1 in 40 tested Joubert syndrome probands
-
-
-
DNA
PCR
blood
-
JBTS4
13
PubMed: Caridi 2006
-
F
-
Italy
Italian
-
-
-
-
1
LOVD
+/.
-
c.0
r.(?)
p.0
Maternal (confirmed)
-
pathogenic
g.?
g.?
deletion including NPHP1
-
SNRNP200_000007
heterozygous
PubMed: Caridi 2006
-
-
Germline
yes
1 in 40 tested Joubert syndrome probands
-
-
-
DNA
PCR
blood
-
JBTS4
-
PubMed: Caridi 2006
-
F
-
Italy
Italian
-
-
-
-
1
LOVD
+/.
-
c.0
r.(?)
p.0
Parent #2
-
pathogenic
g.?
g.?
deletion including NPHP1
-
SNRNP200_000007
heterozygous
PubMed: Caridi 2006
-
-
Germline
yes
1 in 40 tested Joubert syndrome probands
-
-
-
DNA
PCR
blood
-
JBTS4
-
PubMed: Caridi 2006
-
-
-
Italy
Italian
-
-
-
-
1
LOVD
+/.
-
c.0
r.0
p.0
Both (homozygous)
-
pathogenic
g.?
g.?
deletion including NPHP1
-
SNRNP200_000007
homozygous
PubMed: Bollee 2006
-
-
Germline
yes
-
-
-
-
DNA
PCR
blood
-
NPHP1
Patient 1
PubMed: Bollee 2006
-
M
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.0
r.0
p.0
Both (homozygous)
-
pathogenic
g.?
g.?
deletion including NPHP1
-
SNRNP200_000007
homozygous
PubMed: Bollee 2006
-
-
Germline
yes
-
-
-
-
DNA
PCR
blood
-
NPHP1
Patient 2
PubMed: Bollee 2006
-
F
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.0
r.0
p.0
Both (homozygous)
-
pathogenic
g.?
g.?
deletion including NPHP1
-
SNRNP200_000007
homozygous
PubMed: Bollee 2006
-
-
Germline
yes
-
-
-
-
DNA
PCR
blood
-
NPHP1
Patient 3
PubMed: Bollee 2006
sister of patient 4
F
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.0
r.0
p.0
Both (homozygous)
-
pathogenic
g.?
g.?
deletion including NPHP1
-
SNRNP200_000007
homozygous
PubMed: Bollee 2006
-
-
Germline
yes
-
-
-
-
DNA
PCR
blood
-
NPHP1
Patient 4
PubMed: Bollee 2006
brother of patient 3
M
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.0
r.0
p.0
Both (homozygous)
-
pathogenic
g.?
g.?
deletion including NPHP1
-
SNRNP200_000007
homozygous
PubMed: Sellami 2006
-
-
Germline
yes
-
-
-
-
DNA
PCR
blood
-
NPHP1
1_II:2
PubMed: Sellami 2006
Family 1 (article in French)
F
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.0
r.0
p.0
Both (homozygous)
-
pathogenic
g.?
g.?
deletion including NPHP1
-
SNRNP200_000007
homozygous
PubMed: Sellami 2006
-
-
Germline
yes
-
-
-
-
DNA
PCR
blood
-
NPHP1
1_II:3
PubMed: Sellami 2006
Family 1 (article in French)
F
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.0
r.0
p.0
Both (homozygous)
-
pathogenic
g.?
g.?
deletion including NPHP1
-
SNRNP200_000007
homozygous
PubMed: Hoefele 2007
-
-
Germline
yes
-
-
-
-
DNA
PCR
blood
-
NPHP1
F9_II-1
PubMed: Hoefele 2007
family F9, individual II-1
M
-
Germany
-
-
-
-
-
1
LOVD
+/.
-
c.0
r.0
p.0
Both (homozygous)
-
pathogenic
g.?
g.?
deletion including NPHP1
-
SNRNP200_000007
homozygous
PubMed: Hoefele 2007
-
-
Germline
yes
-
-
-
-
DNA
PCR
blood
-
NPHP1
F9_II-2
PubMed: Hoefele 2007
family F9, individual II-2
F
-
Germany
-
-
-
-
-
1
LOVD
+/.
-
c.0
r.0
p.0
Both (homozygous)
-
pathogenic
g.?
g.?
deletion including NPHP1
-
SNRNP200_000007
homozygous
PubMed: Hoefele 2007
-
-
Germline
yes
-
-
-
-
DNA
PCR
blood
-
NPHP1
F906_II-2
PubMed: Hoefele 2007
family F906, individual II-2
F
-
Russia
-
-
-
-
-
1
LOVD
+/.
-
c.0
r.0
p.0
Both (homozygous)
-
pathogenic
g.?
g.?
deletion including NPHP1
-
SNRNP200_000007
homozygous
PubMed: Hoefele 2007
-
-
Germline
yes
-
-
-
-
DNA
PCR
blood
-
NPHP1
F1114_II-1
PubMed: Hoefele 2007
family F1114, individual II-1
M
-
Hungary
-
-
-
-
-
1
LOVD
+/.
-
c.0
r.0
p.0
Both (homozygous)
-
pathogenic
g.?
g.?
deletion including NPHP1
-
SNRNP200_000007
homozygous
PubMed: Hoefele 2007
-
-
Germline
yes
-
-
-
-
DNA
PCR
blood
-
NPHP1
F1114_II-2
PubMed: Hoefele 2007
family F1114, individual II-2
F
-
Hungary
-
-
-
-
-
1
LOVD
+/.
-
c.0
r.0
p.0
Both (homozygous)
-
pathogenic
g.?
g.?
deletion including NPHP1
-
SNRNP200_000007
homozygous
PubMed: Soliman 2012
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
PCR
blood
-
NPHP1
A2202 II1
PubMed: Soliman 2012
family A2202, individual II1; 14 more individuals described without homozygous deletion
M
-
Egypt
Egyptian
-
-
-
-
1
LOVD
+/.
-
c.0
r.0
p.0
Both (homozygous)
-
pathogenic
g.?
g.?
deletion including NPHP1
-
SNRNP200_000007
homozygous
PubMed: Soliman 2012
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
PCR
blood
-
NPHP1
A2228 II3
PubMed: Soliman 2012
family A2228, individual II3; 14 more individuals described without homozygous deletion
F
-
Egypt
Egyptian
-
-
-
-
1
LOVD
+/.
-
c.0
r.0
p.0
Both (homozygous)
-
pathogenic
g.?
g.?
deletion including NPHP1
-
SNRNP200_000007
homozygous
PubMed: Soliman 2012
-
-
Germline
yes
-
-
-
-
DNA
PCR
blood
-
NPHP1
A2325 II1
PubMed: Soliman 2012
family A2325, individual II1; 14 more individuals described without homozygous deletion
M
-
Egypt
Egyptian
-
-
-
-
1
LOVD
+/.
-
c.0
r.0
p.0
Both (homozygous)
-
pathogenic
g.?
g.?
deletion including NPHP1
-
SNRNP200_000007
homozygous
PubMed: Soliman 2012
-
-
Germline
yes
-
-
-
-
DNA
PCR
blood
-
NPHP1
A2325 II2
PubMed: Soliman 2012
family A2325, individual II2; 14 more individuals described without homozygous deletion
M
-
Egypt
Egyptian
-
-
-
-
1
LOVD
+/.
-
c.0
r.0
p.0
Both (homozygous)
-
pathogenic
g.?
g.?
deletion including NPHP1
-
SNRNP200_000007
homozygous
PubMed: Soliman 2012
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
PCR
blood
-
NPHP1
A2371 II1
PubMed: Soliman 2012
family A2371, individual II1; 14 more individuals described without homozygous deletion
M
-
Egypt
Egyptian
-
-
-
-
1
LOVD
+/.
-
c.0
r.0
p.0
Both (homozygous)
-
pathogenic
g.?
g.?
deletion including NPHP1
-
SNRNP200_000007
homozygous
PubMed: Soliman 2012
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
PCR
blood
-
NPHP1
A2413 II6
PubMed: Soliman 2012
family A2413, individual II6; 14 more individuals described without homozygous deletion
F
-
Egypt
Egyptian
-
-
-
-
1
LOVD
+/.
-
c.0
r.0
p.0
Unknown
-
pathogenic
g.?
g.?
deletion including NPHP1
-
SNRNP200_000007
compound heterozygous with undescribed point mutation in NPHP1
PubMed: Deacon 2013
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
?
-
-
JBTS
?
PubMed: Deacon 2013
-
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.0
r.0
p.0
Both (homozygous)
-
pathogenic
g.?
g.?
deletion including NPHP1
-
SNRNP200_000007
homozygous
PubMed: Gyung Kang 2015
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
NPHP1
?
PubMed: Gyung Kang 2015
-
M
-
Korea, South (Republic)
Korean
-
-
-
-
1
LOVD
+/.
-
c.0
r.0
p.0
Both (homozygous)
-
pathogenic
g.?
g.?
deletion including NPHP1
-
SNRNP200_000007
homozygous
PubMed: Gyung Kang 2015
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
NPHP1
?
PubMed: Gyung Kang 2015
-
M
-
Korea, South (Republic)
Korean
-
-
-
-
1
LOVD
+/.
-
c.0
r.0
p.0
Both (homozygous)
-
pathogenic
g.?
g.?
deletion including NPHP1
-
SNRNP200_000007
homozygous
PubMed: Gyung Kang 2015
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
NPHP1
?
PubMed: Gyung Kang 2015
-
F
-
Korea, South (Republic)
Korean
-
-
-
-
1
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