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

 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_28_ |
c.0 |
r.0 |
p.0 |
Parent #1 |
- |
pathogenic |
g.0 |
- |
- |
- |
ATP2C1_000099 |
2.5 Mb deletion
Variant Error [ESYNTAX]: This genomic variant has an error (char 17: end of input). Please fix this entry and then remove this message. |
PubMed: Hu 2000 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
PFGE |
- |
- |
BCPM;HHD |
- |
- |
Family HHD-Ma |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
2 |
c.76delGins~24 |
r.(?) |
p.(?) |
Parent #1 |
- |
pathogenic |
g.130649329delinsN[24] |
- |
- |
- |
ATP2C1_000116 |
- |
PubMed: Fairclough 2004 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
Family NC13 |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
2 |
c.76delins(24) |
r.(?) |
p.(?) |
Parent #1 |
- |
pathogenic |
g.130649329delinsN[?] |
- |
28delGins~24 |
- |
ATP2C1_000000 |
- |
PubMed: Sudbrak 2000 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
Family NC2 |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
2i |
c.117+2T>G |
r.spl |
p.(?) |
Unknown |
- |
pathogenic |
g.130649372T>G |
g.130930528T>G |
- |
- |
ATP2C1_000123 |
- |
PubMed: Zhang 2008 |
- |
- |
Unknown |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
- |
- |
- |
China |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
-?/. |
- |
c.117+7G>A |
r.(=) |
p.(=) |
Unknown |
- |
likely benign |
g.130649377G>A |
g.130930533G>A |
ATP2C1(NM_001199179.3):c.117+7G>A |
- |
ATP2C1_000187 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
2i |
c.118-2A>G |
r.spl |
p.(?) |
Parent #1 |
- |
pathogenic |
g.130650864A>G |
g.130932020A>G |
- |
- |
ATP2C1_000141 |
- |
PubMed: Li 2012 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
family, 6 affected |
M |
- |
China |
- |
- |
- |
- |
- |
6 |
Johan den Dunnen |
+/. |
2i |
c.118-1G>A |
r.spl |
p.(?) |
Unknown |
- |
pathogenic |
g.130650865G>A |
g.130932021G>A |
- |
- |
ATP2C1_000113 |
- |
PubMed: Li 2003 |
- |
- |
Unknown |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
2i |
c.118-1G>A |
r.spl |
p.(?) |
Parent #1 |
- |
pathogenic |
g.130650865G>A |
g.130932021G>A |
- |
- |
ATP2C1_000113 |
- |
PubMed: Fairclough 2004 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
Family NC12 |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
2i |
c.118-1G>A |
r.spl? |
p.(?) |
Unknown |
- |
pathogenic |
g.130650865G>A |
g.130932021G>A |
c.621-1A>G |
- |
ATP2C1_000113 |
- |
PubMed: Tian 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
Family FHHD-3 |
- |
- |
China |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
3 |
c.134del |
r.(?) |
p.(Gly45ValfsTer2) |
Parent #1 |
- |
pathogenic |
g.130650882del |
g.130932038del |
- |
- |
ATP2C1_000151 |
not in 200 healthy controls |
PubMed: Shi 2015 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
PubMed: Shi 2014 |
Family A, 7 affected |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
3 |
c.163C>T |
r.(?) |
p.(Arg55*) |
Parent #1 |
- |
pathogenic |
g.130650911C>T |
g.130932067C>T |
115C>T |
- |
ATP2C1_000021 |
- |
PubMed: Sudbrak 2000 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
Family OX5 |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
3 |
c.163C>T |
r.(?) |
p.(Arg55*) |
Parent #1 |
- |
pathogenic |
g.130650911C>T |
g.130932067C>T |
115C>T |
- |
ATP2C1_000021 |
- |
PubMed: Chao 2002 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
Family 1, 6 affected |
- |
- |
Taiwan |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
3 |
c.163C>T |
r.(?) |
p.(Arg55*) |
Parent #1 |
- |
pathogenic |
g.130650911C>T |
g.130932067C>T |
- |
- |
ATP2C1_000021 |
- |
PubMed: Zhang 2012 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
Family FHHD-8 |
- |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
3 |
c.163C>T |
r.(?) |
p.(Arg55*) |
Parent #1 |
- |
pathogenic |
g.130650911C>T |
g.130932067C>T |
- |
- |
ATP2C1_000021 |
- |
PubMed: Zhang 2010 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
PubMed: Zhang 2010 |
- |
- |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
3 |
c.163C>T |
r.(?) |
p.(Arg55*) |
Parent #1 |
- |
pathogenic |
g.130650911C>T |
g.130932067C>T |
c.317C>T |
- |
ATP2C1_000021 |
- |
PubMed: Btadini 2015 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
PubMed: Btadini 2015 |
family 1 |
- |
- |
Lebanon |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
3 |
c.163C>T |
r.(?) |
p.(Arg55*) |
Parent #1 |
- |
pathogenic |
g.130650911C>T |
g.130932067C>T |
c.317C>T |
- |
ATP2C1_000021 |
- |
PubMed: Btadini 2015 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
PubMed: Btadini 2015 |
Family 5 |
- |
- |
Lebanon |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
3 |
c.163C>T |
r.(?) |
p.(Arg55*) |
Unknown |
- |
pathogenic |
g.130650911C>T |
g.130932067C>T |
c.666T>C, p.R66G |
- |
ATP2C1_000021 |
- |
PubMed: Tian 2013 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
sporadic patient SHHD-5 |
- |
- |
China |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
- |
c.163C>T |
r.(?) |
p.(Arg55*) |
Unknown |
- |
pathogenic |
g.130650911C>T |
- |
- |
- |
ATP2C1_000021 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
3 |
c.168del |
r.(?) |
p.(His58Metfs*39) |
Parent #1 |
- |
pathogenic |
g.130650916del |
g.130932072del |
- |
- |
ATP2C1_000131 |
- |
PubMed: Zhang 2012 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
Family FHHD-4 |
- |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/+ |
3 |
c.179G>A |
r.(?) |
p.(Trp60*) |
Unknown |
ACMG |
pathogenic |
g.130650927G>A |
g.130932083G>A |
- |
- |
ATP2C1_000195 |
- |
Debeuf et al, submitted |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
blood |
- |
BCPM;HHD |
- |
Debeuf et al, submitted |
ID: HHD2 |
F |
- |
Netherlands |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
3 |
c.180G>A |
r.(?) |
p.(Trp60*) |
Unknown |
- |
pathogenic |
g.130650928G>A |
g.130932084G>A |
c.683A>G |
- |
ATP2C1_000174 |
- |
PubMed: Tian 2013 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
sporadic patient SHHD-4 |
- |
- |
China |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
3 |
c.185_188del |
r.(?) |
p.(Glu62Valfs*34) |
Unknown |
- |
pathogenic |
g.130650933_130650936del |
g.130932089_130932092del |
c.185_188delAGTT |
- |
ATP2C1_000094 |
- |
PubMed: Cheng 2010 |
- |
- |
Unknown |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
- |
- |
- |
Hong Kong |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
3 |
c.212del |
r.(?) |
p.(Leu71Argfs*26) |
Unknown |
- |
pathogenic |
g.130650960del |
g.130932116del |
- |
- |
ATP2C1_000146 |
- |
PubMed: Shibata 2013 |
- |
- |
Unknown |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
PubMed: Shibata 2013 |
- |
- |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/+ |
4 |
c.306del |
r.(?) |
p.(Asp102Glufs*30) |
Unknown |
ACMG |
pathogenic |
g.130653537del |
g.130934693del |
- |
- |
ATP2C1_000196 |
- |
Debeuf et al, submitted |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
blood |
- |
BCPM;HHD |
- |
Debeuf et al, submitted |
ID: HHD3 |
F |
- |
Netherlands |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
?/. |
- |
c.324G>C |
r.(?) |
p.(=) |
Unknown |
- |
VUS |
g.130653555G>C |
- |
- |
- |
ASTE1_000016 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/+ |
4 |
c.324G>C |
r.235_324del |
p.(Phe79_Val108del) |
Unknown |
ACMG |
pathogenic |
g.130653555G>C |
g.130934711G>C |
- |
- |
ASTE1_000016 |
Also minor splicing product skipping exon 3-4, r.118_324del p.(Ala40_Val108del) |
Debeuf et al, submitted |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ |
blood |
- |
BCPM;HHD |
- |
Debeuf et al, submitted |
ID: HHD4 |
F |
- |
Netherlands |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/+ |
4i |
c.324+5G>T |
r.235_324del |
p.Phe79_Val108del |
Unknown |
ACMG |
pathogenic |
g.130653560G>T |
g.130934716G>T |
- |
- |
ATP2C1_000197 |
variant results in exon 4 skipping |
Debeuf et al, submitted |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
blood |
- |
BCPM;HHD |
- |
Debeuf et al, submitted |
ID: HHD5 |
M |
- |
Netherlands |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/+ |
4i |
c.324+5_324+7del |
r.235_324del |
p.Phe79_Val108del |
Unknown |
ACMG |
pathogenic |
g.130653560_130653562del |
g.130934716_130934718del |
- |
- |
ATP2C1_000198 |
variant results in skipping exon 4 |
Debeuf et al, submitted |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
blood |
- |
BCPM;HHD |
- |
Debeuf et al, submitted |
ID: HHD6 |
F |
- |
Netherlands |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
-/. |
- |
c.324+17A>G |
r.(=) |
p.(=) |
Unknown |
- |
benign |
g.130653572A>G |
g.130934728A>G |
ATP2C1(NM_001199179.3):c.324+17A>G |
- |
ATP2C1_000191 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
5 |
c.335del |
r.(?) |
p.(Ile112Thrfs*20) |
Parent #1 |
- |
pathogenic |
g.130656282del |
g.130937438del |
- |
- |
ATP2C1_000058 |
- |
PubMed: Fairclough 2004 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
Family OX27 |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
5i |
c.360+1G>A |
r.spl |
p.(?) |
Parent #1 |
- |
pathogenic |
g.130656308G>A |
g.130937464G>A |
- |
- |
ATP2C1_000118 |
Not found in 50 controls |
PubMed: Majore 2005 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
Family FHHD-2 |
M |
- |
Italy |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
5i |
c.360+1G>C |
r.325 _360del |
p.(Ala109_Gln120del) |
Unknown |
- |
pathogenic |
g.130656308G>C |
g.130937464G>C |
- |
- |
ATP2C1_000124 |
- |
PubMed: Hamada 2008 |
- |
- |
Unknown |
yes |
- |
- |
- |
- |
DNA, RNA |
RT-PCR, SEQ |
- |
- |
BCPM;HHD |
- |
- |
- |
M |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
5i |
c.360+2T>A |
r.325_360del |
p.(Ala109_Gln120del) |
Maternal (confirmed) |
- |
pathogenic |
g.130656309T>A |
g.130937465T>A |
- |
- |
ATP2C1_000150 |
not in 50 controls |
PubMed: Pernet 2012 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA, RNA |
RT-PCR, SEQ |
- |
- |
? |
- |
PubMed: Pernet 2012 |
family, 2 affected |
F |
- |
- |
- |
- |
- |
- |
- |
2 |
Johan den Dunnen |
+/. |
5i |
c.361-2A>G |
r.spl |
p.(?) |
Parent #1 |
- |
pathogenic |
g.130659472A>G |
g.130940628A>G |
360(-2)A>G |
- |
ATP2C1_000120 |
- |
PubMed: Zhang 2007 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
Family HHD-9 |
- |
- |
China |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
5i |
c.361-1G>A |
r.361_422del |
p.(Glu121Cysfs*3) |
Parent #1 |
- |
pathogenic |
g.130659473G>A |
g.130940629G>A |
r.313–1G>A |
- |
ATP2C1_000154 |
- |
PubMed: Btadini 2015 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA, RNA |
RT-PCR, SEQ |
- |
- |
BCPM;HHD |
- |
PubMed: Btadini 2015 |
Family 3 |
- |
- |
Lebanon |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
6 |
c.366T>A |
r.(?) |
p.(Tyr122*) |
Parent #1 |
- |
pathogenic |
g.130659479T>A |
g.130940635T>A |
- |
- |
ATP2C1_000090 |
- |
PubMed: Tian 2010 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
Family FHHD-1 |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
?/. |
- |
c.422+3A>G |
r.spl? |
p.? |
Unknown |
- |
VUS |
g.130659538A>G |
- |
ATP2C1(NM_014382.5):c.422+3A>G |
- |
ASTE1_000012 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
7 |
c.457C>T |
r.(?) |
p.(Arg153*) |
Unknown |
- |
pathogenic |
g.130660469C>T |
g.130941625C>T |
- |
- |
ATP2C1_000014 |
Also reported in {PMID11886536:Ikeda 2001} |
PubMed: Hu 2000 |
- |
- |
Unknown |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
- |
M |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
7 |
c.457C>T |
r.(?) |
p.(Arg153*) |
Unknown |
- |
pathogenic |
g.130660469C>T |
g.130941625C>T |
- |
- |
ATP2C1_000014 |
- |
PubMed: Yokota 2002 |
- |
- |
Unknown |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
- |
M |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
7 |
c.457C>T |
r.(?) |
p.(Arg153*) |
Parent #1 |
- |
pathogenic |
g.130660469C>T |
g.130941625C>T |
- |
- |
ATP2C1_000014 |
- |
PubMed: Li 2003 |
- |
- |
Unknown |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
7 |
c.457C>T |
r.(?) |
p.(Arg153*) |
Parent #1 |
- |
pathogenic |
g.130660469C>T |
g.130941625C>T |
- |
- |
ATP2C1_000014 |
- |
PubMed: Fairclough 2004 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
Family OX25 |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
7 |
c.457C>T |
r.(?) |
p.(Arg153*) |
Unknown |
- |
pathogenic |
g.130660469C>T |
g.130941625C>T |
- |
- |
ATP2C1_000014 |
- |
PubMed: Hamada 2008 |
- |
- |
Unknown |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
- |
M |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
7 |
c.457C>T |
r.(?) |
p.(Arg153*) |
Unknown |
- |
pathogenic |
g.130660469C>T |
g.130941625C>T |
- |
- |
ATP2C1_000014 |
Information from table 2 {PMID:Meng 2016:26782588} |
Chang et al, 2008:Acta Univer. Med. Anhui. 43: 212-214. |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
- |
- |
- |
China |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
7 |
c.478dup |
r.(?) |
p.(Thr160Asnfs*9) |
Unknown |
- |
pathogenic |
g.130660490dup |
g.130941646dup |
c.478_479insA |
- |
ATP2C1_000181 |
- |
PubMed: Li 2016 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ |
blood |
- |
BCPM;HHD |
- |
PubMed: Li 2016 |
Sporadic case 1 |
F |
- |
China |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
7 |
c.490del |
r.(?) |
p.(Ser164Leufs*25) |
Parent #1 |
- |
pathogenic |
g.130660502del |
g.130941658del |
- |
- |
ATP2C1_000039 |
- |
PubMed: Dobson-stone 2002 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
Family OX10, 1 affected |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
7 |
c.519dup |
r.(?) |
p.(Arg174Thrfs*4) |
Parent #1 |
- |
pathogenic |
g.130660531dup |
g.130941687dup |
519insA |
- |
ATP2C1_000040 |
- |
PubMed: Dobson-Stone 2002 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
Family NC3, 2 affected |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
7 |
c.519dup |
r.(?) |
p.(Arg174Thrfs*4) |
Unknown |
- |
pathogenic |
g.130660531dup |
g.130941687dup |
c.519_520insA |
- |
ATP2C1_000040 |
- |
PubMed: Majore 2005 |
- |
- |
Unknown |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
- |
F |
- |
Italy |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
- |
c.519dup |
r.(?) |
p.(Arg174Thrfs*4) |
Unknown |
- |
pathogenic |
g.130660531dup |
- |
ATP2C1(NM_014382.5):c.519dupA (p.R174Tfs*4) |
- |
ATP2C1_000040 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
7 |
c.520del |
r.(?) |
p.(Arg174Alafs*15) |
Unknown |
- |
pathogenic |
g.130660532del |
g.130941688del |
- |
- |
ATP2C1_000077 |
- |
PubMed: Hamada 2008 |
- |
- |
Unknown |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
- |
- |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
7i |
c.531+2T>A |
r.spl |
p.(?) |
Parent #1 |
- |
pathogenic |
g.130660545T>A |
g.130941701T>A |
483+2T>A |
- |
ATP2C1_000111 |
- |
PubMed: Chao 2002 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
Family 2, 5 affected |
- |
- |
Taiwan |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
-?/. |
- |
c.585T>C |
r.(?) |
p.(Cys195=) |
Unknown |
- |
likely benign |
g.130672718T>C |
g.130953874T>C |
ATP2C1(NM_001199179.3):c.585T>C (p.C195=) |
- |
ATP2C1_000188 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
8 |
c.602C>T |
r.(?) |
p.(Pro201Leu) |
Parent #1 |
- |
pathogenic |
g.130672735C>T |
g.130953891C>T |
554C>T |
- |
ATP2C1_000027 |
- |
PubMed: Sudbrak 2000 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
Family OX3 |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
8 |
c.602C>T |
r.(?) |
p.(Pro201Leu) |
Parent #1 |
- |
pathogenic |
g.130672735C>T |
g.130953891C>T |
- |
- |
ATP2C1_000027 |
- |
PubMed: Dobson-Stone 2002 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
Family OX14, 1 affected |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
8 |
c.635C>A |
r.(?) |
p.(Ser212*) |
Unknown |
- |
pathogenic |
g.130672768C>A |
g.130953924C>A |
- |
- |
ATP2C1_000143 |
- |
PubMed: Li 2012 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
- |
F |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
8 |
c.641_644dup |
r.(?) |
p.(Asn215Lysfs*2) |
Unknown |
- |
pathogenic |
g.130672774_130672777dup |
g.130953930_130953933dup |
- |
- |
ATP2C1_000168 |
- |
PubMed: Nellen 2017 |
- |
- |
Unknown |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
- |
F |
- |
Finland |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+?/. |
8 |
c.659G>A |
r.(?) |
p.(Gly220Glu) |
Unknown |
- |
likely pathogenic |
g.130672792G>A |
g.130953948G>A |
- |
- |
ATP2C1_000162 |
- |
PubMed: Nellen 2017 |
- |
- |
Unknown |
? |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
- |
F |
? |
Netherlands |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
8 |
c.661A>C |
r.(?) |
p.(Thr221Pro) |
Parent #1 |
- |
pathogenic |
g.130672794A>C |
g.130953950A>C |
853A>C |
- |
ATP2C1_000135 |
- |
PubMed: Luo 2011 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
Family A, 10 affected |
F |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
8 |
c.681dup |
r.(?) |
p.(Ala228Serfs*13) |
Parent #1 |
- |
pathogenic |
g.130672814dup |
g.130953970dup |
- |
- |
ATP2C1_000078 |
- |
PubMed: Hamada 2008 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
- |
F |
- |
Korea, South (Republic) |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
8i |
c.688-1G>A |
r.spl |
p.(?) |
Parent #1 |
- |
pathogenic |
g.130673855G>A |
g.130955011G>A |
- |
- |
ATP2C1_000106 |
- |
PubMed: Dobson-Stone 2002 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
Family NC7, 1 affected |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
9 |
c.689G>A |
r.(?) |
p.(Gly230Asp) |
Unknown |
- |
pathogenic |
g.130673857G>A |
g.130955013G>A |
- |
- |
ATP2C1_000171 |
- |
PubMed: Meng 2015 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
PubMed: Meng 2016 |
Sporadic patient SHHD-5 |
- |
- |
China |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+?/. |
- |
c.689G>A |
r.(?) |
p.(Gly230Asp) |
Unknown |
- |
likely pathogenic |
g.130673857G>A |
- |
ATP2C1(NM_014382.5):c.689G>A (p.G230D) |
- |
ATP2C1_000171 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
9 |
c.705del |
r.(?) |
p.(Gly236Glufs*12) |
Parent #1 |
- |
pathogenic |
g.130673873del |
g.130955029del |
- |
- |
ATP2C1_000097 |
- |
PubMed: Xu 2011 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
9 |
c.745C>T |
r.(?) |
p.(Gln249*) |
Parent #1 |
- |
pathogenic |
g.130673913C>T |
g.130955069C>T |
- |
- |
ATP2C1_000041 |
- |
PubMed: Dobson-Stone 2002 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
Family OX19, 1 affected |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
- |
c.754G>T |
r.(?) |
p.(Glu252Ter) |
Unknown |
- |
pathogenic |
g.130673922G>T |
g.130955078G>T |
ATP2C1(NM_001199179.1):c.754G>T (p.E252*), ATP2C1(NM_014382.5):c.754G>T (p.E252*) |
- |
ASTE1_000004 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
- |
c.754G>T |
r.(?) |
p.(Glu252Ter) |
Unknown |
- |
pathogenic |
g.130673922G>T |
- |
ATP2C1(NM_001199179.1):c.754G>T (p.E252*), ATP2C1(NM_014382.5):c.754G>T (p.E252*) |
- |
ASTE1_000004 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
10 |
c.769_772dup |
r.(?) |
p.(Leu258Profs*42) |
Parent #1 |
- |
pathogenic |
g.130674960_130674963dup |
g.130956116_130956119dup |
767insertCCCT |
- |
ATP2C1_000015 |
NM_014382.3 |
PubMed: Hu 2000, OMIM:var0001 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
Family HHD-Br |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
10 |
c.775C>T |
r.(?) |
p.(Gln259*) |
Unknown |
- |
pathogenic |
g.130674966C>T |
g.130956122C>T |
- |
- |
ATP2C1_000091 |
- |
PubMed: Tian 2010 |
- |
- |
Unknown |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
- |
c.802C>T |
r.(?) |
p.(Gln268*) |
Unknown |
- |
pathogenic |
g.130674993C>T |
- |
- |
- |
ASTE1_000015 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
10 |
c.806T>G |
r.(?) |
p.(Leu269Arg) |
Unknown |
- |
pathogenic |
g.130674997T>G |
g.130956153T>G |
- |
- |
ATP2C1_000092 |
Not found in 100 controls |
PubMed: Tian 2010 |
- |
- |
Unknown |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
10 |
c.832G>A |
r.832_833ins832+1_832+11 |
p.(Ile313Lysfs*25) |
Unknown |
- |
pathogenic |
g.130675023G>A |
g.130956179G>A |
- |
- |
ATP2C1_000140 |
- |
PubMed: Chao 2012 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA, RNA |
RT-PCR, SEQ |
- |
- |
BCPM;HHD |
- |
- |
family, 2 affected |
F |
- |
- |
- |
- |
- |
- |
- |
2 |
Johan den Dunnen |
+/. |
10i |
c.832+2T>C |
r.757 _832del |
p.(Ala253Glufs*22) |
Unknown |
- |
pathogenic |
g.130675025T>C |
g.130956181T>C |
- |
- |
ATP2C1_000104 |
- |
PubMed: Ikeda 2001 |
- |
- |
Unknown |
yes |
- |
- |
- |
- |
DNA, RNA |
RT-PCR, SEQ |
- |
- |
BCPM;HHD |
- |
- |
- |
M |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
10i |
c.832+3A>T |
r.spl? |
p.(?) |
Parent #1 |
- |
pathogenic |
g.130675026A>T |
g.130956182A>T |
- |
- |
ATP2C1_000107 |
- |
PubMed: Dobson-Stone 2002 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
Family OX13, 1 affected |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
10i |
c.832+3A>T |
r.spl? |
p.(?) |
Parent #1 |
- |
pathogenic |
g.130675026A>T |
g.130956182A>T |
- |
- |
ATP2C1_000107 |
- |
PubMed: Dobson-Stone 2002 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
Family OX16 |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
11 |
c.836dup |
r.(?) |
p.(Ile280Hisfs*19) |
Parent #1 |
- |
pathogenic |
g.130678122dup |
g.130959278dup |
836insertT |
- |
ATP2C1_000016 |
- |
PubMed: Hu 2000 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
Family HHD-Pa |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
11 |
c.854G>A |
r.(?) |
p.(Trp285*) |
Parent #1 |
- |
pathogenic |
g.130678140G>A |
g.130959296G>A |
- |
- |
ATP2C1_000074 |
- |
PubMed: Zhang 2008 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
Family FHHD-1 |
F |
- |
China |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
11 |
c.888dup |
r.(?) |
p.(Ile297Tyrfs*2) |
Maternal (confirmed) |
- |
pathogenic |
g.130678174dup |
g.130959330dup |
c.888_889insT |
- |
ATP2C1_000180 |
- |
PubMed: Li 2016 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
blood |
- |
BCPM;HHD |
- |
PubMed: Li 2016 |
Family 4 |
M |
- |
China |
- |
- |
- |
- |
- |
2 |
Michel van Geel |
+/. |
11i |
c.899+1G>C |
r.spl |
p.(?) |
Parent #1 |
- |
pathogenic |
g.130678186G>C |
g.130959342G>C |
- |
- |
ATP2C1_000145 |
- |
PubMed: Iijima 2014 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
PubMed: Iijima 2014 |
family, 2 affected |
- |
- |
Japan |
- |
- |
- |
- |
- |
2 |
Johan den Dunnen |
+/. |
11i |
c.899+1G>T |
r.spl |
p.(?) |
Parent #1 |
- |
pathogenic |
g.130678186G>T |
g.130959342G>T |
- |
- |
ATP2C1_000125 |
- |
PubMed: Hamada 2008 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
- |
M |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
11i |
c.900-1G>A |
r.spl |
p.(?) |
Parent #1 |
- |
pathogenic |
g.130682814G>A |
g.130963970G>A |
852-1G>A |
- |
ATP2C1_000101 |
- |
PubMed: Sudbrak 2000, OMIM:var0005 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
Family FR2 |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
12 |
c.910G>T |
r.(?) |
p.(Ala304Ser) |
Unknown |
- |
pathogenic |
g.130682825G>T |
g.130963981G>T |
A304T |
- |
ATP2C1_000017 |
also reported in {PMID11886536:Ikeda 2001} |
PubMed: Hu 2000, OMIM:var0002 |
- |
- |
Unknown |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
- |
F |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
12 |
c.920C>A |
r.(?) |
p.(Pro307His) |
Unknown |
- |
pathogenic |
g.130682835C>A |
g.130963991C>A |
- |
- |
ATP2C1_000148 |
not in 100 ethnically matched controls |
PubMed: Matsuda 2014 |
- |
- |
Unknown |
? |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
PubMed: Matsuda 2014 |
- |
M |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
12 |
c.920C>T |
r.(?) |
p.(Pro307Leu) |
Unknown |
- |
pathogenic |
g.130682835C>T |
g.130963991C>T |
- |
- |
ATP2C1_000072 |
- |
PubMed: Zhang 2007 |
- |
- |
Unknown |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
Family HHD-13 |
- |
- |
China |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
12 |
c.920C>T |
r.(?) |
p.(Pro307Leu) |
Maternal (inferred) |
- |
pathogenic |
g.130682835C>T |
g.130963991C>T |
- |
- |
ATP2C1_000072 |
- |
PubMed: Nellen 2017 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
other affected family members: mother |
F |
- |
Netherlands |
- |
- |
- |
- |
- |
2 |
Michel van Geel |
+/. |
- |
c.920C>T |
r.(?) |
p.(Pro307Leu) |
Unknown |
- |
pathogenic |
g.130682835C>T |
- |
- |
- |
ATP2C1_000072 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
12 |
c.923_925del |
r.(?) |
p.(Glu308del) |
Unknown |
- |
pathogenic |
g.130682838_130682840del |
g.130963994_130963996del |
c.923_925delAAG |
- |
ATP2C1_000096 |
- |
PubMed: Cheng 2010 |
- |
- |
Unknown |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
- |
- |
- |
Hong Kong |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
12 |
c.925G>T |
r.(?) |
p.(Gly309Cys) |
Unknown |
- |
pathogenic |
g.130682840G>T |
g.130963996G>T |
- |
- |
ATP2C1_000042 |
- |
PubMed: Dobson-Stone 2002 |
- |
- |
Unknown |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
- |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+?/. |
12 |
c.926G>T |
r.(?) |
P.(Gly309Val) |
Paternal (inferred) |
- |
likely pathogenic |
g.130682841G>T |
g.130963997G>T |
- |
- |
ATP2C1_000169 |
- |
PubMed: Nellen 2017 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
other affected family members: sister, father, father's brother, paternal grandmother |
F |
? |
Netherlands |
- |
- |
- |
- |
- |
5 |
Michel van Geel |
+/. |
12 |
c.926G>T |
r.(?) |
p.(Gly309Val) |
Unknown |
- |
pathogenic |
g.130682841G>T |
g.130963997G>T |
- |
- |
ATP2C1_000169 |
- |
PubMed: Nellen 2017 |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ |
blood |
- |
BCPM;HHD |
- |
- |
- |
F |
- |
Netherlands |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
- |
c.926G>T |
r.(?) |
p.(Gly309Val) |
Unknown |
- |
pathogenic |
g.130682841G>T |
g.130963997G>T |
ATP2C1(NM_001199179.3):c.926G>T (p.G309V) |
- |
ATP2C1_000169 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+?/. |
- |
c.926G>T |
r.(?) |
p.(Gly309Val) |
Unknown |
- |
likely pathogenic |
g.130682841G>T |
- |
ATP2C1(NM_001199179.3):c.926G>T (p.G309V) |
- |
ATP2C1_000169 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
12 |
c.932_952del |
r.(?) |
p.(Pro311_Thr317del) |
Unknown |
- |
pathogenic |
g.130682847_130682867del |
g.130964003_130964023del |
nt884-904del |
- |
ATP2C1_000112 |
- |
PubMed: Chao 2002 |
- |
- |
Unknown |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
- |
- |
- |
Taiwan |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
12 |
c.935T>C |
r.(?) |
p.(Ile312Thr) |
Unknown |
- |
pathogenic |
g.130682850T>C |
g.130964006T>C |
- |
- |
ATP2C1_000155 |
- |
PubMed: Xing 2015 |
- |
- |
Unknown |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
PubMed: Xing 2015 |
Family 1 |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+?/. |
- |
c.935T>C |
r.(?) |
p.(Ile312Thr) |
Unknown |
- |
likely pathogenic |
g.130682850T>C |
- |
- |
- |
ATP2C1_000155 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/+ |
12 |
c.944_945del |
r.(?) |
p.(Thr315Serfs*24) |
Unknown |
ACMG |
pathogenic |
g.130682859_130682860del |
g.130964015_130964016del |
- |
- |
ATP2C1_000199 |
- |
Debeuf et al, submitted |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ |
blood |
- |
BCPM;HHD |
- |
Debeuf et al, submitted |
ID: HHD17 |
F |
- |
Netherlands |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
12 |
c.951_959delins24 |
r.(?) |
p.(L318_L320delinsTMCWCYEN) |
Parent #1 |
- |
pathogenic |
g.130682866_130682874delinsN[24] |
- |
- |
- |
ATP2C1_000105 |
- |
PubMed: Ikeda 2001 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
Family JHHD-7 |
- |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
12 |
c.953T>C |
r.(?) |
p.(Leu318Pro) |
Parent #1 |
- |
pathogenic |
g.130682868T>C |
g.130964024T>C |
- |
- |
ATP2C1_000018 |
- |
PubMed: Hu 2000 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
Family HHD-Pk |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
12 |
c.956del |
r.(?) |
p.(Ala319Valfs*5) |
Parent #1 |
- |
pathogenic |
g.130682871del |
g.130964027del |
- |
- |
ATP2C1_000079 |
- |
PubMed: Hamada 2008 |
- |
- |
Unknown |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
- |
M |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
- |
c.970A>T |
r.(?) |
p.(Arg324*) |
Unknown |
- |
pathogenic |
g.130682885A>T |
- |
- |
- |
ASTE1_000017 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
12 |
c.1001del |
r.(?) |
p.(Lys334Serfs*13) |
Unknown |
- |
pathogenic |
g.130682916del |
g.130964072del |
- |
- |
ATP2C1_000028 |
- |
PubMed: Dobson-stone 2002 |
- |
- |
Unknown |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
- |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
1 |
Michel van Geel |
+/. |
12 |
c.1004T>C |
r.(?) |
p.(Leu335Pro) |
Parent #1 |
- |
pathogenic |
g.130682919T>C |
g.130964075T>C |
- |
- |
ATP2C1_000076 |
Not found in 100 controls |
PubMed: Ma 2008 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
BCPM;HHD |
- |
- |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Michel van Geel |