Global Variome shared LOVD
BMPR1A (bone morphogenetic protein receptor, type IA)
LOVD v.3.0 Build 27 [
Current LOVD status
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Curators:
Karl Heinimann
,
Robert Blatter
, and
Benjamin Tschupp
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The variants shown are described using the NM_004329.2 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
association
unclassified
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
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 = singele 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-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
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Operator
Column type
Example
Matches
Text
Arg
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space
Text
Arg Ser
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|
Text
Arg|Ser
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!
Text
!fs
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^
Text
^p.(Arg
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$
Text
Ser)$
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=""
Text
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=""
Text
="p.0"
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!=""
Text
!=""
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!=""
Text
!="p.0"
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combination
Text
*|Ter !fs
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Date
2020
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|
Date
2020-03|2020-04
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!
Date
!2020-03
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<
Date
<2020
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<=
Date
<=2020-06
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>
Date
>2020-06
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>=
Date
>=2020-06-15
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combination
Date
2019|2020 <2020-03
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Numeric
23
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|
Numeric
23|24
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!
Numeric
!23
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<
Numeric
<23
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<=
Numeric
<=23
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>
Numeric
>23
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>=
Numeric
>=23
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combination
Numeric
>=20 <30 !23
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Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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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.?
r.(?)
p.(Phe397Ser)
Unknown
-
VUS
g.?
-
-
-
CYP2C9_001038
-
PubMed: Heidet 2017
-
-
Germline
-
-
-
0
-
DNA
SEQ, SEQ-NG
-
330-gene panel
CAKUT
K100
PubMed: Heidet 2017
-
-
-
France
-
-
0
-
-
1
Johan den Dunnen
+/.
_1_3i
c.(?_-119300)_(67+1_68-1)del
r.0?
p.0?
Unknown
-
pathogenic (dominant)
g.(?_88397644)_(88635843_88649818)del
-
‐119300‐?_67+?del
-
BMPR1A_000106
-
PubMed: Aretz 2007
-
-
Germline
-
-
-
0
-
DNA
SEQ, MLPA
-
target gene panel (SMAD4, BMPR1A, PTEN, CDH1)
JPS
17873119-Pat38
PubMed: Aretz 2007
-
-
-
-
Germany
-
0
-
-
1
Johan den Dunnen
+/.
_1_13_
c.(?_-119300)_(*1469_?)del
r.0
p.0
Unknown
-
pathogenic (dominant)
g.(?_88397644)_(89728532_?)del
-
BMPR1A,‐119300‐?_1599+?del + PTEN,1‐?_1212+?del
-
BMPR1A_000107
-
PubMed: Aretz 2007
-
-
Germline
-
-
-
0
-
DNA
SEQ, MLPA
-
target gene panel (SMAD4, BMPR1A, PTEN, CDH1)
JPS
17873119-Pat26
PubMed: Aretz 2007
-
-
-
-
Germany
-
0
-
-
1
Johan den Dunnen
-?/.
-
c.-1077T>C
r.(?)
p.(=)
Unknown
-
likely benign
g.88515867T>C
g.86756110T>C
BMPR1A(NM_004329.2):c.-1077T>C
-
BMPR1A_000136
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.-1063G>C
r.(?)
p.(=)
Unknown
-
benign
g.88515881G>C
g.86756124G>C
BMPR1A(NM_004329.2):c.-1063G>C
-
BMPR1A_000137
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.-978G>A
r.(?)
p.(=)
Unknown
-
benign
g.88515966G>A
g.86756209G>A
BMPR1A(NM_004329.2):c.-978G>A
-
BMPR1A_000138
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.-934G>A
r.(?)
p.(=)
Unknown
-
benign
g.88516010G>A
g.86756253G>A
BMPR1A(NM_004329.2):c.-934G>A
-
BMPR1A_000139
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-876G>T
r.(?)
p.(=)
Unknown
-
likely benign
g.88516068G>T
g.86756311G>T
BMPR1A(NM_004329.2):c.-876G>T
-
BMPR1A_000140
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.-854G>C
r.(?)
p.(=)
Unknown
-
benign
g.88516090G>C
g.86756333G>C
BMPR1A(NM_004329.2):c.-854G>C
-
BMPR1A_000141
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-785T>C
r.(?)
p.(=)
Unknown
-
likely benign
g.88516159T>C
g.86756402T>C
BMPR1A(NM_004329.2):c.-785T>C
-
BMPR1A_000158
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.-774T>G
r.(?)
p.(=)
Unknown
-
benign
g.88516170T>G
g.86756413T>G
BMPR1A(NM_004329.2):c.-774T>G
-
BMPR1A_000142
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-658C>T
r.(?)
p.(=)
Unknown
-
likely benign
g.88516286C>T
g.86756529C>T
BMPR1A(NM_004329.2):c.-658C>T
-
BMPR1A_000143
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.-602C>T
r.(?)
p.(=)
Unknown
-
benign
g.88516342C>T
g.86756585C>T
BMPR1A(NM_004329.2):c.-602C>T
-
BMPR1A_000144
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/?
_1_1i
c.(?_-548)_(-268+1_-267-1)del
r.0?
p.0?
Unknown
ACMG
VUS
g.(?_88516396)_(88516677_88598621)del
-
del promotor_first non-coding exon
-
BMPR1A_000108
ACMG PVS1
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
screening
JPS
proband 3
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
?/+
_1_1i
c.(?_-548)_(-268+1_-267-1)del
r.0?
p.0?
Unknown
ACMG
VUS
g.(?_88516396)_(88516677_88598621)del
-
del promotor_first non-coding exon
-
BMPR1A_000108
ACMG PVS1, PS2
Journal: Barros 2009
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
JPS
patient
Journal: Barros 2009
-
-
-
(Portugal)
(European)
-
0
-
-
1
Karl Heinimann
+/+
_1_2i
c.(?_-548)_(-153+1_-152-1)del
r.0?
p.0?
Unknown
ACMG
pathogenic
g.(?_88516396)_(88598737_88635623)del
-
del promotor B_ex2
-
BMPR1A_000109
ACMG PVS1, PP1-S
Journal: Calva-Cerqueira 2010
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
screening
JPS
219
Journal: Calva-Cerqueira 2010
-
M
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
+/+
_1_2i
c.(?_-548)_(-153+1_-152-1)del
r.0?
p.0?
Unknown
ACMG
pathogenic
g.(?_88516396)_(88598737_88635623)del
-
del promotor B_ex2
-
BMPR1A_000109
ACMG PVS1, PP1-S
Journal: Calva-Cerqueira 2010
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
screening
JPS
222
Journal: Calva-Cerqueira 2010
-
F
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
+/+
_1_2i
c.(?_-548)_(-153+1_-152-1)del
r.0?
p.0?
Unknown
ACMG
pathogenic
g.(?_88516396)_(88598737_88635623)del
-
del promotor B_ex2
-
BMPR1A_000109
ACMG PVS1, PP1-S
Journal: Calva-Cerqueira 2010
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
screening
JPS
202
Journal: Calva-Cerqueira 2010
-
F
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
+/+
_1_2i
c.(?_-548)_(-153+1_-152-1)del
r.0?
p.0?
Unknown
ACMG
pathogenic
g.(?_88516396)_(88598737_88635623)del
-
del promotor B_ex2
-
BMPR1A_000109
ACMG PVS1, PP1-S
Journal: Calva-Cerqueira 2010
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
screening
JPS
203
Journal: Calva-Cerqueira 2010
-
F
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
+/+
_1_2i
c.(?_-548)_(-153+1_-152-1)del
r.0?
p.0?
Unknown
ACMG
pathogenic
g.(?_88516396)_(88598737_88635623)del
-
del promotor B_ex2
-
BMPR1A_000109
ACMG PVS1, PP1-S
Journal: Calva-Cerqueira 2010
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
screening
JPS
213
Journal: Calva-Cerqueira 2010
-
M
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
+/+
_1_2i
c.(?_-548)_(-153+1_-152-1)del
r.0?
p.0?
Unknown
ACMG
pathogenic
g.(?_88516396)_(88598737_88635623)del
-
del promotor B_ex2
-
BMPR1A_000109
ACMG PVS1, PP1-S
Journal: Calva-Cerqueira 2010
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
screening
JPS
302
Journal: Calva-Cerqueira 2010
-
M
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
+/+
_1_2i
c.(?_-548)_(-153+1_-152-1)del
r.0?
p.0?
Unknown
ACMG
pathogenic
g.(?_88516396)_(88598737_88635623)del
-
del promotor B_ex2
-
BMPR1A_000109
ACMG PVS1, PP1-S
Journal: Calva-Cerqueira 2010
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
screening
JPS
320
Journal: Calva-Cerqueira 2010
-
F
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
+/+
_1_2i
c.(?_-548)_(-153+1_-152-1)del
r.0?
p.0?
Unknown
ACMG
pathogenic
g.(?_88516396)_(88598737_88635623)del
-
del promotor B_ex2
-
BMPR1A_000109
ACMG PVS1, PP1-S
Journal: Calva-Cerqueira 2010
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
screening
JPS
330
Journal: Calva-Cerqueira 2010
-
F
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
+/+
_1_2i
c.(?_-548)_(-153+1_-152-1)del
r.0?
p.0?
Unknown
ACMG
pathogenic
g.(?_88516396)_(88598737_88635623)del
-
del promotor B_ex2
-
BMPR1A_000109
ACMG PVS1, PP1-S
Journal: Calva-Cerqueira 2010
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
screening
JPS
340
Journal: Calva-Cerqueira 2010
-
F
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
+/+
_1_2i
c.(?_-548)_(-153+1_-152-1)del
r.0?
p.0?
Unknown
ACMG
pathogenic
g.(?_88516396)_(88598737_88635623)del
-
del promotor B_ex2
-
BMPR1A_000109
ACMG PVS1, PP1-S
Journal: Calva-Cerqueira 2010
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
screening
JPS
350
Journal: Calva-Cerqueira 2010
-
F
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
+/+
_1_2i
c.(?_-548)_(-153+1_-152-1)del
r.0?
p.0?
Unknown
ACMG
pathogenic
g.(?_88516396)_(88598737_88635623)del
-
del promotor B_ex2
-
BMPR1A_000109
ACMG PVS1, PP1-S
Journal: Calva-Cerqueira 2010
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
JPS
901
Journal: Calva-Cerqueira 2010
-
M
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
+/+
_1_2i
c.(?_-548)_(-153+1_-152-1)del
r.0?
p.0?
Unknown
ACMG
pathogenic
g.(?_88516396)_(88598737_88635623)del
-
del promotor B_ex2
-
BMPR1A_000109
ACMG PVS1, PP1-S
Journal: Calva-Cerqueira 2010
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
JPS
920
Journal: Calva-Cerqueira 2010
-
F
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
+/+
_1_2i
c.(?_-548)_(-153+1_-152-1)del
r.0?
p.0?
Unknown
ACMG
pathogenic
g.(?_88516396)_(88598737_88635623)del
-
del promotor B_ex2
-
BMPR1A_000109
ACMG PVS1, PP1-S
Journal: Calva-Cerqueira 2010
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
JPS
906
Journal: Calva-Cerqueira 2010
-
F
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
+/+
_1_2i
c.(?_-548)_(-153+1_-152-1)del
r.0?
p.0?
Unknown
ACMG
pathogenic
g.(?_88516396)_(88598737_88635623)del
-
del promotor B_ex2
-
BMPR1A_000109
ACMG PVS1, PP1-S
Journal: Calva-Cerqueira 2010
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
JPS
915
Journal: Calva-Cerqueira 2010
-
M
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
+/+
_1_3i
c.(?_-548)_(67+1_68-1)del
r.0?
p.0?
Unknown
ACMG
pathogenic
g.(?_88516396)_(88635843_88649818)del
-
5'UTR - Exon 1 del
-
BMPR1A_000110
ACMG PVS1, PP1-S, PM2
Journal: Cao 2006
,
Journal: Cheah 2009
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
screening
HMPS2
Fam1Pat2
Journal: Cao 2006
,
Journal: Cheah 2009
-
F
-
Singapore
(Asian)
-
0
-
-
10
Karl Heinimann
+/+
_1_3i
c.(?_-548)_(67+1_68-1)del
r.0?
p.0?
Unknown
ACMG
pathogenic
g.(?_88516396)_(88635843_88649818)del
-
5'UTR - Exon 1 del
-
BMPR1A_000110
ACMG PVS1, PP1-S, PM2
Journal: Cao 2006
,
Journal: Cheah 2009
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
screening
HMPS2
Fam1Pat3
Journal: Cao 2006
,
Journal: Cheah 2009
-
M
-
Singapore
(Asian)
-
0
-
-
1
Karl Heinimann
+/+
_1_3i
c.(?_-548)_(67+1_68-1)del
r.0?
p.0?
Unknown
ACMG
pathogenic
g.(?_88516396)_(88635843_88649818)del
-
5'UTR - Exon 1 del
-
BMPR1A_000110
ACMG PVS1, PP1-S, PM2
Journal: Cao 2006
,
Journal: Cheah 2009
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
screening
HMPS2
Fam1Pat5
Journal: Cao 2006
,
Journal: Cheah 2009
-
F
-
Singapore
(Asian)
-
0
-
-
1
Karl Heinimann
+/+
_1_3i
c.(?_-548)_(67+1_68-1)del
r.0?
p.0?
Unknown
ACMG
pathogenic
g.(?_88516396)_(88635843_88649818)del
-
5'UTR - Exon 1 del
-
BMPR1A_000110
ACMG PVS1, PP1-S, PM2
Journal: Cao 2006
,
Journal: Cheah 2009
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
screening
HMPS2
Fam1Pat7
Journal: Cao 2006
,
Journal: Cheah 2009
-
M
-
Singapore
(Asian)
-
0
-
-
1
Karl Heinimann
+/+
_1_3i
c.(?_-548)_(67+1_68-1)del
r.0?
p.0?
Unknown
ACMG
pathogenic
g.(?_88516396)_(88635843_88649818)del
-
5'UTR - Exon 1 del
-
BMPR1A_000110
ACMG PVS1, PP1-S, PM2
Journal: Cao 2006
,
Journal: Cheah 2009
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
screening
HMPS2
Fam1Pat9
Journal: Cao 2006
,
Journal: Cheah 2009
-
M
-
Singapore
(Asian)
-
0
-
-
1
Karl Heinimann
+/+
_1_3i
c.(?_-548)_(67+1_68-1)del
r.0?
p.0?
Unknown
ACMG
pathogenic
g.(?_88516396)_(88635843_88649818)del
-
5'UTR - Exon 1 del
-
BMPR1A_000110
ACMG PVS1, PP1-S, PM2
Journal: Cao 2006
,
Journal: Cheah 2009
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
screening
HMPS2
Fam1Pat11
Journal: Cao 2006
,
Journal: Cheah 2009
-
M
-
Singapore
(Asian)
-
0
-
-
1
Karl Heinimann
+/+
_1_3i
c.(?_-548)_(67+1_68-1)del
r.0?
p.0?
Unknown
ACMG
pathogenic
g.(?_88516396)_(88635843_88649818)del
-
5'UTR - Exon 1 del
-
BMPR1A_000110
ACMG PVS1, PP1-S, PM2
Journal: Cao 2006
,
Journal: Cheah 2009
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
screening
HMPS2
Fam1Pat19
Journal: Cao 2006
,
Journal: Cheah 2009
-
M
-
Singapore
(Asian)
-
0
-
-
1
Karl Heinimann
+/+
_1_3i
c.(?_-548)_(67+1_68-1)del
r.0?
p.0?
Unknown
ACMG
pathogenic
g.(?_88516396)_(88635843_88649818)del
-
5'UTR - Exon 1 del
-
BMPR1A_000110
ACMG PVS1, PP1-S, PM2
Journal: Cao 2006
,
Journal: Cheah 2009
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
screening
HMPS2
Fam1Pat21
Journal: Cao 2006
,
Journal: Cheah 2009
-
M
-
Singapore
(Asian)
-
0
-
-
1
Karl Heinimann
+/+
_1_3i
c.(?_-548)_(67+1_68-1)del
r.0?
p.0?
Unknown
ACMG
pathogenic
g.(?_88516396)_(88635843_88649818)del
-
5'UTR - Exon 1 del
-
BMPR1A_000110
ACMG PVS1, PP1-S, PM2
Journal: Cao 2006
,
Journal: Cheah 2009
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
screening
HMPS2
Fam1Pat22
Journal: Cao 2006
,
Journal: Cheah 2009
-
M
-
Singapore
(Asian)
-
0
-
-
1
Karl Heinimann
+/+
_1_3i
c.(?_-548)_(67+1_68-1)del
r.0?
p.0?
Unknown
ACMG
pathogenic
g.(?_88516396)_(88635843_88649818)del
-
5'UTR - Exon 1 del
-
BMPR1A_000110
ACMG PVS1, PP1-S, PM2
Journal: Cao 2006
,
Journal: Cheah 2009
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
screening
HMPS2
Fam1Pat30
Journal: Cao 2006
,
Journal: Cheah 2009
-
F
-
Singapore
(Asian)
-
0
-
-
1
Karl Heinimann
?/+
_1_3i
c.(?_-548)_(67+1_68-1)del
r.0?
p.0?
Unknown
ACMG
VUS
g.(?_88516396)_(88635843_88649818)del
-
5'UTR - Exon 1 del
-
BMPR1A_000110
ACMG PVS1, PM2
Journal: Cheah 2009
-
-
Germline
-
-
-
0
-
DNA
MLPA, PCRlr
-
-
HMPS2
1
Journal: Cheah 2009
-
F
-
Singapore
(Asian)
-
0
-
-
1
Karl Heinimann
?/?
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
Unknown
ACMG
VUS
g.(?_88516396)_(88684945_?)del
-
hemizygous deletion
-
BMPR1A_000111
ACMG PVS1
PubMed: van Hattem 2008
,
Journal: van Hattem 2008
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
screening
JPS
18
PubMed: van Hattem 2008
,
Journal: van Hattem 2008
-
-
-
(Netherlands)
(European)
-
0
-
-
1
Karl Heinimann
?/?
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
Unknown
ACMG
VUS
g.(?_88516396)_(88684945_?)del
-
hemizygous deletion
-
BMPR1A_000111
ACMG PVS1
PubMed: van Hattem 2008
,
Journal: van Hattem 2008
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
screening
JPS
24
PubMed: van Hattem 2008
,
Journal: van Hattem 2008
-
-
-
(Netherlands)
(European)
-
0
-
-
1
Karl Heinimann
+/+
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
Unknown
ACMG
pathogenic
g.(?_88516396)_(88684945_?)del
-
46,XY,del(10)(q23.2q24.1)
-
BMPR1A_000111
ACMG PVS1, PS2
Journal: Dadaleh 2012
-
-
Germline
-
-
-
0
-
DNA
microscope
-
screening
JPS
3
Journal: Dadaleh 2012
-
M
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
+/+
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
Unknown
ACMG
pathogenic
g.(?_88516396)_(88684945_?)del
-
46,XX.ish del(10)(q23.2q23.3)
-
BMPR1A_000111
ACMG PVS1, PS2
Journal: Dadaleh 2012
-
-
Germline/De novo (untested)
-
-
-
0
-
DNA
DGGE, FISH, PCRlr
-
screening
BRRS
patient 1
Journal: Dadaleh 2012
-
F
-
(France)
(European)
-
0
-
-
1
Karl Heinimann
+/+
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
Unknown
ACMG
pathogenic
g.(?_88516396)_(88684945_?)del
-
46,XX.ish del(10)(q23.2q23.3)
-
BMPR1A_000111
ACMG PVS1, PS2
Journal: Dadaleh 2012
-
-
Germline
-
-
-
0
-
DNA
FISH, PCRlr
-
screening
JPS
patient 2
Journal: Dadaleh 2012
-
F
-
(France)
(European)
-
0
-
-
1
Karl Heinimann
+/+
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
Unknown
ACMG
pathogenic
g.(?_88516396)_(88684945_?)del
-
46,XY.ish del(10)(q23.2q23.3)
-
BMPR1A_000111
ACMG PVS1, PS2
Journal: Dadaleh 2012
-
-
De novo
-
-
-
0
-
DNA
FISH, PCRlr
-
screening
JPS
patient 3
Journal: Dadaleh 2012
-
M
-
(France)
(European)
-
0
-
-
1
Karl Heinimann
?/+
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
Unknown
ACMG
VUS
g.(?_88516396)_(88684945_?)del
-
10q23 deletion
-
BMPR1A_000111
ACMG PVS1, PM2
Journal: Hiljadnikova Bajro 2013
-
-
Germline/De novo (untested)
-
-
-
0
-
DNA
arrayCGH, microscope
-
screening
JPS
patient
Journal: Hiljadnikova Bajro 2013
-
M
-
(Macedonia)
(European)
-
0
-
-
1
Karl Heinimann
+/+
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
Unknown
ACMG
pathogenic
g.(?_88516396)_(88684945_?)del
-
del(10)(q.22.3q.24.1)
-
BMPR1A_000111
ACMG PVS1, PM2
{DOI:Jacoby 1997:10.1002/(SICI)1096-8628(19970627)70:4<361::AID-AJMG6>3.0.CO;2-W}
-
-
De novo
-
-
-
0
-
DNA
microscope
-
screening
JPS
patient
{DOI:Jacoby 1997:10.1002/(SICI)1096-8628(19970627)70:4<361::AID-AJMG6>3.0.CO;2-W}
-
M
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
?/+
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
Unknown
ACMG
VUS
g.(?_88516396)_(88684945_?)del
-
46,XY.ish del(10)(q23.2q23.31)
-
BMPR1A_000111
ACMG PVS1, PS2
Journal: Menko 2008
-
-
De novo
-
-
-
0
-
DNA
arraySNP, FISH, SEQ, MLPA
-
screening
JPS
case 1
Journal: Menko 2008
-
M
-
-
maroccan
-
0
-
-
1
Karl Heinimann
?/+
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
Unknown
ACMG
VUS
g.(?_88516396)_(88684945_?)del
-
46,XY.ish del(10)(q23.2q24.31)
-
BMPR1A_000111
ACMG PVS1, PS2
Journal: Menko 2008
-
-
Germline
-
-
-
0
-
DNA
arraySNP, MLPA
-
screening
JPS
case 2
Journal: Menko 2008
-
M
-
-
turkish iranian
-
0
-
-
1
Karl Heinimann
?/+
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
Unknown
ACMG
VUS
g.(?_88516396)_(88684945_?)del
-
46,XX.ish del(10)(q23.2q23.31)
-
BMPR1A_000111
ACMG PVS1, PS2
Journal: Menko 2008
-
-
De novo
-
-
-
0
-
DNA
arraySNP, MLPA
-
screening
JPS
case 3
Journal: Menko 2008
-
F
-
Belgium
European
-
0
-
-
1
Karl Heinimann
?/+
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
Unknown
ACMG
VUS
g.(?_88516396)_(88684945_?)del
-
46,XY.ish del(10)(q23.2q23.31)
-
BMPR1A_000111
ACMG PVS1, PS2
Journal: Menko 2008
-
-
Germline
-
-
-
0
-
DNA
arraySNP, MLPA
-
screening
JPS
case 4
Journal: Menko 2008
-
M
-
-
-
-
0
-
-
1
Karl Heinimann
?/+
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
Unknown
ACMG
VUS
g.(?_88516396)_(88684945_?)del
-
1-?_1599del?
-
BMPR1A_000111
ACMG PVS1, PM2
Journal: Ngeow 2013
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
screening
JPS
5062
Journal: Ngeow 2013
-
-
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
?/+
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
Unknown
ACMG
VUS
g.(?_88516396)_(88684945_?)del
-
46,XX del(10)(q22.3q23.33)dn
-
BMPR1A_000111
ACMG PVS1, PM2, PS2
Journal: Salviati 2006
-
-
De novo
-
-
-
0
-
DNA
microscope, FISH
-
screening
JPS
patient
Journal: Salviati 2006
-
F
-
(Italy)
(European)
-
0
-
-
1
Karl Heinimann
?/+
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
Unknown
ACMG
VUS
g.(?_88516396)_(88684945_?)del
-
10q23del and 1p31.3del
-
BMPR1A_000111
ACMG PVS1, PM2
Journal: Septer 2013
-
-
Germline
-
-
-
0
-
DNA
microscope
-
screening
JPS
patient
Journal: Septer 2013
-
M
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
?/+
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
Unknown
ACMG
VUS
g.(?_88516396)_(88684945_?)del
-
del(10)(q23.2q23.33)
-
BMPR1A_000111
ACMG PVS1, PM2
{DOI:Tsuchiya 1998:10.1002/(sici)1098-2264(199802)21:2<113::aid-gcc6>3.0.co;2-3}
-
-
Germline/De novo (untested)
-
-
-
0
-
DNA
microscope
-
screening
?
patient
{DOI:Tsuchiya 1998:10.1002/(sici)1098-2264(199802)21:2<113::aid-gcc6>3.0.co;2-3}
-
M
-
(United States)
african-American
-
0
-
-
1
Karl Heinimann
-?/.
-
c.-547C>T
r.(?)
p.(=)
Unknown
-
likely benign
g.88516397C>T
g.86756640C>T
BMPR1A(NM_004329.2):c.-547C>T
-
BMPR1A_000145
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
2i_3i
c.(-153+1_-152-1)_(67+1_68-1)del
p.0?
p.0?
Unknown
-
pathogenic (dominant)
g.(88598737_88635623)_(88635843_88649818)del
-
‐50‐?_67+?del
-
BMPR1A_000112
-
PubMed: Aretz 2007
-
-
Germline
-
-
-
0
-
DNA
SEQ, MLPA
-
target gene panel (SMAD4, BMPR1A, PTEN, CDH1)
JPS
17873119-Pat22
PubMed: Aretz 2007
-
-
-
-
Germany
-
0
-
-
1
Johan den Dunnen
-/.
-
c.-25A>G
r.(=)
p.(=)
Parent #1
-
benign
g.88635751A>G
g.86875994A>G
-
-
BMPR1A_000007
-
-
-
rs116346662
Germline
-
-
-
0
-
DNA
SEQ
-
-
-
-
-
-
-
-
Germany
-
-
0
-
-
1
Andreas Laner
?/+
3
c.-24_-14del
r.(?)
p.(?)
Unknown
ACMG
VUS
g.88635752_88635762del
g.86875995_86876005del
ex2 11 bp del
-
BMPR1A_000113
ACMG PVS1, PM2
Journal: Cheah 2009
-
-
Germline
-
-
-
0
-
DNA
PCR
-
screening
HMPS2
12
Journal: Cheah 2009
-
F
-
Singapore
(Asian)
-
0
-
-
1
Karl Heinimann
?/+
3
c.-24_-14del
r.(?)
p.(?)
Unknown
ACMG
VUS
g.88635752_88635762del
g.86875995_86876005del
ex2 11 bp del
-
BMPR1A_000113
ACMG PVS1, PM2
Journal: Cheah 2009
-
-
Germline
-
-
-
0
-
DNA
PCR
-
-
HMPS2
5
Journal: Cheah 2009
-
M
-
Singapore
(Asian)
-
0
-
-
1
Karl Heinimann
?/+
3
c.-24_-14del
r.(?)
p.(?)
Unknown
ACMG
VUS
g.88635752_88635762del
g.86875995_86876005del
ex2 11 bp del
-
BMPR1A_000113
ACMG PVS1, PM2
Journal: Cheah 2009
-
-
Germline
-
-
-
0
-
DNA
PCR
-
-
HMPS2
9
Journal: Cheah 2009
-
M
-
Singapore
(Asian)
-
0
-
-
1
Karl Heinimann
?/+
_1_13_
c.0
r.0
p.0
Unknown
ACMG
VUS
g.(?_88490000_89750000_?)del
-
del entire BMPR1a and PTEN genes
-
BMPR1A_000105
ACMG PVS1
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
screening
JPS
proband 4
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
?/+
_1_13_
c.0
r.0
p.0
Unknown
ACMG
VUS
g.(?_88490000_89750000_?)del
-
hemizygous del BMPR1A and PTEN
-
BMPR1A_000105
ACMG PVS1, PM2
PubMed: Sweet 2005
,
Journal: Sweet 2005
-
-
Germline
-
-
-
0
-
DNA
PCR, DGGE, PCRm, DHPLC
-
screening
JPS
Group 1/B
PubMed: Sweet 2005
,
Journal: Sweet 2005
-
F
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
+/+
1_13_
c.0
r.0
p.0
Unknown
-
pathogenic
(?_88450000)_(89750000_?)del
-
>1.2Mb del BMPR1A/PTEN
-
BMPR1A_000105
patient also carries 46,XX,t(2;10)(q31;p15) (?_88450000)_(89750000_?)del
PubMed: Delnatte 2006
-
-
Germline
-
-
-
0
-
DNA
FISH, PCRlr
-
screening
JPS
16685657-Pat4
PubMed: Delnatte 2006
-
F
-
(France)
(European)
-
0
-
-
1
Karl Heinimann
+/+
_1_13_
c.0
r.0
p.0
Unknown
ACMG
pathogenic
g.(97000001_99300000)_qterdelins[NC_000009.11:pter_(4600001_9000000)inv]
-
-
46,XY,der(9)t(9;10)(p24.1;q24.1), der(10)del(10)(q23.2q24.1)t(9;10)(p24.1;q23.2)
BMPR1A_000105
ACMG PVS1, PS2
PubMed: Zigman 1997
-
-
De novo
-
-
-
0
-
DNA
microscope
-
screening
BRRS
09352843-Pat1
PubMed: Zigman 1997
-
M
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
+/+
_1_13_
c.0
r.0
p.0
Unknown
ACMG
pathogenic
g.(82000001_87900000)_(99300001_101900000)del
-
46,XX,del(10)(q23.1q24.2)
-
BMPR1A_000105
ACMG PVS1, PS2 82000001_101900000
PubMed: Zigman 1997
-
-
De novo
-
-
-
0
-
DNA
microscope
-
screening
JPS
09352843-Pat2
PubMed: Zigman 1997
-
F
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
?/+
3
c.1A>C
r.0?
p.0?
Unknown
-
VUS
g.88635776A>C
g.86876019A>C
M1L
-
BMPR1A_000059
-
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
Germline
-
-
-
0
-
DNA
PCR, SEQ
-
screening
JPS
JP91-1
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
-
(United States)
(American)
-
0
-
-
1
Global Variome, with Curator vacancy
+?/.
-
c.3G>A
r.(?)
p.(Met1?)
Unknown
-
likely pathogenic
g.88635778G>A
g.86876021G>A
-
-
BMPR1A_000076
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.4C>A
r.(?)
p.(Pro2Thr)
Unknown
-
benign
g.88635779C>A
g.86876022C>A
BMPR1A(NM_004329.2):c.4C>A (p.P2T)
-
BMPR1A_000069
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.4C>A
r.(?)
p.(Pro2Thr)
Unknown
-
benign
g.88635779C>A
g.86876022C>A
BMPR1A(NM_004329.2):c.4C>A (p.P2T)
-
BMPR1A_000069
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.4C>A
r.(?)
p.(Pro2Thr)
Unknown
-
benign
g.88635779C>A
g.86876022C>A
BMPR1A(NM_004329.2):c.4C>A (p.P2T)
-
BMPR1A_000069
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
Unknown
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP1, PP3
PubMed: Howe 2001
,
Journal: Howe 2001
-
-
Germline
-
-
-
0
-
DNA
PCR, SEQ
-
test
JPS
D2
PubMed: Howe 2001
,
Journal: Howe 2001
-
F
-
(United States)
(American)
-
0
-
-
8
Global Variome, with Curator vacancy
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
Unknown
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_7delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
Germline
-
-
-
0
-
DNA
PCR, SEQ
-
screening
JPS
JP10-1
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
-
(United States)
(American)
-
0
-
-
9
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
Unknown
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_7delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
Germline
-
-
-
0
-
DNA
PCR, SEQ
-
screening
JPS
JP10-2
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
Unknown
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_7delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
Germline
-
-
-
0
-
DNA
PCR, SEQ
-
screening
JPS
JP10-3
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
Unknown
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_7delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
Germline
-
-
-
0
-
DNA
PCR, SEQ
-
screening
JPS
JP10-4
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
Unknown
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_7delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
Germline
-
-
-
0
-
DNA
PCR, SEQ
-
screening
JPS
JP10-5
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
Unknown
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_7delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
Germline
-
-
-
0
-
DNA
PCR, SEQ
-
screening
JPS
JP10-6
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
Unknown
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_7delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
Germline
-
-
-
0
-
DNA
PCR, SEQ
-
screening
JPS
JP10-7
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
Unknown
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_7delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
Germline
-
-
-
0
-
DNA
PCR, SEQ
-
screening
JPS
JP10-8
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
Unknown
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_7delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
Germline
-
-
-
0
-
DNA
PCR, SEQ
-
screening
JPS
JP10-9
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
Unknown
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP1, PP3
PubMed: Howe 2001
,
Journal: Howe 2001
-
-
Germline
-
-
-
0
-
DNA
PCR, SEQ
-
test
JPS
D3
PubMed: Howe 2001
,
Journal: Howe 2001
-
F
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
Unknown
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP1, PP3
PubMed: Howe 2001
,
Journal: Howe 2001
-
-
Germline
-
-
-
0
-
DNA
PCR, SEQ
-
test
JPS
D4
PubMed: Howe 2001
,
Journal: Howe 2001
-
M
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
Unknown
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP1, PP3
PubMed: Howe 2001
,
Journal: Howe 2001
-
-
Germline
-
-
-
0
-
DNA
PCR, SEQ
-
test
JPS
D6
PubMed: Howe 2001
,
Journal: Howe 2001
-
M
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
Unknown
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP1, PP3
PubMed: Howe 2001
,
Journal: Howe 2001
-
-
Germline
-
-
-
0
-
DNA
PCR, SEQ
-
test
JPS
D8
PubMed: Howe 2001
,
Journal: Howe 2001
-
M
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
Unknown
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP1, PP3
PubMed: Howe 2001
,
Journal: Howe 2001
-
-
Germline
-
-
-
0
-
DNA
PCR, SEQ
-
test
JPS
D11
PubMed: Howe 2001
,
Journal: Howe 2001
-
M
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
Unknown
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP1, PP3
PubMed: Howe 2001
,
Journal: Howe 2001
-
-
Germline
-
-
-
0
-
DNA
PCR, SEQ
-
test
JPS
D13
PubMed: Howe 2001
,
Journal: Howe 2001
-
M
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
Unknown
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP1, PP3
PubMed: Howe 2001
,
Journal: Howe 2001
-
-
Germline
-
-
-
0
-
DNA
PCR, SEQ
-
test
JPS
D15
PubMed: Howe 2001
,
Journal: Howe 2001
-
M
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
Unknown
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44-47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Howe 2004
,
Journal: Howe 2004
-
-
Germline
-
-
-
0
-
DNA
PCR, SEQ
-
-
JPS
JP17-1
PubMed: Howe 2004
,
Journal: Howe 2004
-
-
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
Unknown
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44-47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Howe 2004
,
Journal: Howe 2004
-
-
Germline
-
-
-
0
-
DNA
PCR, SEQ
-
-
JPS
JP17-2
PubMed: Howe 2004
,
Journal: Howe 2004
-
-
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
Unknown
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44-47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Howe 2004
,
Journal: Howe 2004
-
-
Germline
-
-
-
0
-
DNA
PCR, SEQ
-
-
JPS
JP17-3
PubMed: Howe 2004
,
Journal: Howe 2004
-
-
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
Unknown
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44-47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Howe 2004
,
Journal: Howe 2004
-
-
Germline
-
-
-
0
-
DNA
PCR, SEQ
-
-
JPS
JP17-4
PubMed: Howe 2004
,
Journal: Howe 2004
-
-
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
Unknown
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44-47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Howe 2004
,
Journal: Howe 2004
-
-
Germline
-
-
-
0
-
DNA
PCR, SEQ
-
-
JPS
JP17-5
PubMed: Howe 2004
,
Journal: Howe 2004
-
-
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
Unknown
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44-47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Howe 2004
,
Journal: Howe 2004
-
-
Germline
-
-
-
0
-
DNA
PCR, SEQ
-
-
JPS
JP17-6
PubMed: Howe 2004
,
Journal: Howe 2004
-
-
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
Unknown
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44-47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Howe 2004
,
Journal: Howe 2004
-
-
Germline
-
-
-
0
-
DNA
PCR, SEQ
-
-
JPS
JP17-7
PubMed: Howe 2004
,
Journal: Howe 2004
-
-
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
Unknown
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44-47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Howe 2004
,
Journal: Howe 2004
-
-
Germline
-
-
-
0
-
DNA
PCR, SEQ
-
-
JPS
JP17-8
PubMed: Howe 2004
,
Journal: Howe 2004
-
-
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
Unknown
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44-47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Howe 2004
,
Journal: Howe 2004
-
-
Germline
-
-
-
0
-
DNA
PCR, SEQ
-
-
JPS
JP17-9
PubMed: Howe 2004
,
Journal: Howe 2004
-
-
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
Unknown
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44-47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Sayed 2002
,
Journal: Sayed 2002
-
-
Germline
-
-
-
0
-
DNA
PCR
-
screening
JPS
JP16
PubMed: Sayed 2002
,
Journal: Sayed 2002
-
-
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
Unknown
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
Journal: Ngeow 2013
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
screening
?
5656
Journal: Ngeow 2013
-
-
-
(United States)
(American)
-
0
-
-
1
Karl Heinimann
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