Global Variome shared LOVD
ALPL (alkaline phosphatase, liver/bone/kidney)
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The variants shown are described using the NM_000478.4 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
Enzyme activity
: activity variant enzym
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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Example
Matches
Text
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space
Text
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|
Text
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!
Text
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^
Text
^p.(Arg
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$
Text
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=""
Text
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!=""
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!=""
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!=""
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combination
Text
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Date
2020
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|
Date
2020-03|2020-04
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Date
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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
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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
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Effect
Exon
DNA change (cDNA)
RNA change
Protein
Enzyme activity
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.(1309+1_1310-1)_*764{0}
r.?
p.?
-
Parent #2
-
likely pathogenic
g.(21903135_21903875)_(21904905_?)del
g.(21576642_21577382)_(21578412_?)del
del ex12
-
ALPL_000434
-
PubMed: Lia-Baldini 2001
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Lia-Baldini 2001
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
9i
c.997+2T
r.spl
p.?
-
Parent #2
ACMG
pathogenic
g.21900294T>A
g.21573801T>A
-
-
ALPL_000286
-
PubMed: del Angel 2020
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: del Angel 2020
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
./.
-
c.-1295374_*986269del
r.0?
p.0?
-
Unknown
-
pathogenic
g.20540741_22890410del
g.20214248_22563917del
-
-
HSPG2_000007
decreased gene dosage
PubMed: DDDS 2015
,
Journal: DDDS 2015
-
-
De novo
-
-
-
0
-
DNA
SEQ, SEQ-NG-I
-
-
?
-
PubMed: DDDS 2015
,
Journal: DDDS 2015
family, 1 affected
M
-
United Kingdom (Great Britain)
-
-
0
Decipher
-
1
Johan den Dunnen
+/.
1
c.-195C>T
r.(?)
p.(=)
-
Parent #1
ACMG
pathogenic
g.21835920C>T
g.21509427C>T
-
-
ALPL_000048
-
PubMed: Taillandier 2000
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
Pat1
PubMed: Taillandier 2000
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
1
c.-195C>T
r.(?)
p.(=)
-
Parent #2
ACMG
pathogenic
g.21835920C>T
g.21509427C>T
-
-
ALPL_000048
-
PubMed: Taillandier 1999
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Taillandier 1999
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+?/.
_1i_2i
c.(-105+1_-104-1)_(61+1_62-1)del
r.?
p.0?
-
Parent #1
-
pathogenic (recessive)
g.(21836011_21880470)_(21880636_21887118)del
g.(21509518_21553977)_(21554143_21560625)del
del ex2
-
ALPL_000429
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, H Mateus, Alexion Pharmaceuticals (USA)
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
patient
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, H Mateus, Alexion Pharmaceuticals (USA)
-
-
-
United States
-
-
0
-
-
1
Johan den Dunnen
+/.
1i_2i
c.(-105+1_-104-1)_(61+1_62-1)del
r.?
p.0?
-
Both (homozygous)
-
pathogenic (recessive)
g.(21836011_21880470)_(21880636_21887118)del
g.(21509518_21553977)_(21554143_21560625)del
del ex2, g.(16650_17870)_(48651_50859)del
-
ALPL_000429
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Versailles lab July 2013
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
patient
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Versailles lab July 2013
-
-
-
France
-
-
0
-
-
1
Johan den Dunnen
+/.
-
c.(-105+1_-104-1)_(61+1_62-1)del
r.?
p.0?
-
Parent #1
-
pathogenic (recessive)
g.(21836011_21880470)_(21880636_21887118)del
g.(21509518_21553977)_(21554143_21560625)del
del ex2, g.(42056_43422)_(46936_47669)del
-
ALPL_000429
copied from {DB:ALPL}, Versailles lab Nov. 2018
-
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
patient
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Versailles lab Nov. 2018
-
-
-
France
-
-
0
-
-
1
Johan den Dunnen
+/.
1i_6i
c.(-105+1_-104-1)_(648+1_649-1)del
r.?
p.?
-
Parent #1
-
pathogenic (recessive)
g.(21836011_21880470)_(21890710_21894596)del
g.(21509518_21553977)_(21564217_21568103)del
del ex2-6
-
ALPL_000435
copied from {DB:ALPL}, I Rau, Hamburg, Germany
-
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
patient
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, I Rau, Hamburg, Germany
-
-
-
Germany
-
-
0
-
-
1
Johan den Dunnen
-?/.
-
c.-104-90_-104-899insAAAAA
r.(=)
p.(=)
-
Both (homozygous)
-
likely benign
g.21896766_21896767del
-
g.48712insAAAAA
-
ALPL_000445
-
PubMed: Mentrup 2016
-
-
Germline
-
-
-
0
-
DNA, RNA
RT-PCR, SEQ
-
-
HPP
patient
PubMed: Mentrup 2016
2-generation family, 1 affected unaffected heterozygous carrier parents
M
yes
Germany
Turkey
-
0
-
-
1
Johan den Dunnen
-?/.
-
-
r.(=)
p.(=)
-
Both (homozygous)
-
likely benign
g.21831294_21831297del
-
ATTT[7]
-
ALPL_000444
-
PubMed: Mentrup 2016
-
-
Germline
-
-
-
0
-
DNA, RNA
RT-PCR, SEQ
-
-
HPP
patient
PubMed: Mentrup 2016
2-generation family, 1 affected unaffected heterozygous carrier parents
M
yes
Germany
Turkey
-
0
-
-
1
Johan den Dunnen
-?/.
-
-
r.(=)
p.(=)
-
Both (homozygous)
-
likely benign
g.21833225T>C
-
g.2368T>C
-
ALPL_000444
-
PubMed: Mentrup 2016
-
-
Germline
-
-
-
0
-
DNA, RNA
RT-PCR, SEQ
-
-
HPP
patient
PubMed: Mentrup 2016
2-generation family, 1 affected unaffected heterozygous carrier parents
M
yes
Germany
Turkey
-
0
-
-
1
Johan den Dunnen
?/.
1i
c.(-105+1_-104-1)del(3000)
r.?
p.?
-
Parent #2
-
VUS
g.(21836011_21880470)del(3000)
g.(21509518_21553977)del(3000)
3kb del IVS1, g.(15599_18599)del
-
ALPL_000431
compound heterozygote, copied from {DB:ALPL}, Versailles lab Oct. 2016
-
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
patient
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Versailles lab
-
-
-
France
-
-
0
-
-
1
Johan den Dunnen
+?/.
11i_12_
c.(1309+1_1310-1)_*764{0}
r.?
p.?
36 U/L parent
Parent #1
-
likely pathogenic (recessive)
g.(21903135_21903875)_(21904905_?)del
g.(21576642_21577382)_(21578412_?)del
del ex12 (3' end)
-
ALPL_000434
-
PubMed: Spentchian 2006
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
Pat8
PubMed: Spentchian 2006
-
-
-
Germany
-
-
0
-
-
1
Johan den Dunnen
+?/.
3i
c.(181+1_182-1)del(?)
r.?
p.?
-
Parent #1
-
likely pathogenic (recessive)
g.(21887239_21887589)del(?)
g.(21560746_21561096)del(?)
del IVS3
-
ALPL_000438
-
PubMed: Whyte 2015
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Whyte 2015
-
-
-
United States
-
-
0
-
-
1
Johan den Dunnen
+/.
5
c.(298_472)delins(?)
r.?
p.?
-
Parent #1
-
pathogenic (recessive)
g.(21889603_21889777)delinsN[?]
g.(21563110_21563284)delinsN[?]
indel exon 5
-
ALPL_000437
-
PubMed: Whyte 2015
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Whyte 2015
-
-
-
United States
-
-
0
-
-
2
Johan den Dunnen
+?/.
_2_6i
c.(?_-104-1)_(648+1_649-1del
r.?
p.?
-
Both (homozygous)
ACMG
likely pathogenic (recessive)
g.(?_21880470)_(21890710_21894596)del
g.(?_21553977)_(21564217_21568103)del
dup ex2-6 (ex1 not tested)
-
ALPL_000428
-
PubMed: Hacihamdioglu 2018
-
-
Germline
-
-
-
0
-
DNA
PCRq, SEQ
-
-
HPP
patient
PubMed: Hacihamdioglu 2018
2-generation family, 1 affected unaffected heterozygous carrier parents
M
yes
Turkey
-
-
0
-
-
1
Johan den Dunnen
+/.
_1_1i
c.-257_(-105+1_-104-1){0}
r.0?
p.0?
-
Both (homozygous)
-
pathogenic (recessive)
g.(?_21835858)_(21836011_21880470)del
g.(?_21509365)_(21509518_21553977)del
del ex1
-
ALPL_000432
copied from {DB:ALPL}, Versailles lab July 2012
-
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
patient
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Versailles lab July 2012
-
-
-
France
-
-
0
-
-
1
Johan den Dunnen
+/.
_1_2i
c.-257_(61+1_62-1){0}
r.0?
p.0?
-
Parent #1
-
pathogenic (recessive)
g.(?_21835858)_(21880636_21887118)del
g.(?_21509365)_(21554143_21560625)del
del ex1-2, g.(1-54621_1-35638)_(44833_46877)del
-
ALPL_000430
compound heterozygote, copied from {DB:ALPL}, Versailles lab May 2016
-
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
patient
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Versailles lab
-
-
-
France
-
-
0
-
-
1
Johan den Dunnen
+/.
-
c.-257_*764{0}
r.0
p.0
-
Parent #2
-
pathogenic
g.(?_21835858)_(21904905_?)del
g.(?_21509365)_(21578412_?)del
del gene
-
ALPL_000449
-
PubMed: Mumm 2002
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
Pat1
PubMed: Mumm 2002
-
-
-
United States
-
-
0
-
-
1
Johan den Dunnen
?/.
5i
c.573-2A>?
r.?
p.?
-
Parent #2
-
VUS
g.21890632A>?
-
473-2G>C
-
ALPL_000448
-
PubMed: Castells 2018
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
patient
PubMed: Castells 2018
-
M
-
Spain
-
00y00m04d
0
-
-
1
Johan den Dunnen
+/.
-
c.?
r.(?)
p.(Pro?Gly)
-
Unknown
-
pathogenic
g.?
-
1581C>G (P446G)
-
NPHS2_000000
-
PubMed: Cui 2012
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
patient
PubMed: Cui 2012
-
-
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
-
c.2T>C
r.(?)
p.(Met1?)
-
Parent #2
ACMG
pathogenic (recessive)
g.21880576T>C
g.21554083T>C
-
-
ALPL_000500
ACMG PVS1, PM2, PM3
PubMed: Tang 2021
-
-
Germline
-
-
-
0
-
DNA
SEQ, SEQ-NG
-
WES
skeletal dysplasia
Pat4
PubMed: Tang 2021
fetus
-
-
China
-
-
0
-
-
1
Johan den Dunnen
+?/.
2
c.3G>A
r.(?)
p.(Met1?)
-
Unknown
ACMG
likely pathogenic
g.21880577G>A
g.21554084G>A
Met-17Ile
-
ALPL_000049
unknown variant 2nd allele
PubMed: Mentrup 2011
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Mentrup 2011
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
2
c.17T>A
r.(?)
p.(Leu6*)
-
Unknown
ACMG
pathogenic
g.21880591T>A
g.21554098T>A
Leu-12Ter
-
ALPL_000050
unknown variant 2nd allele
PubMed: Taillandier 2000
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Taillandier 2000
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
-
c.18del
r.(?)
p.(Val7Tyrfs*12)
-
Parent #2
-
pathogenic (recessive)
g.21880592del
g.21554099del
18delA
-
ALPL_000424
-
-
-
-
Germline
-
-
-
0
-
DNA
SEQ-NG
-
-
?
11
-
-
M
-
China
-
-
0
-
-
1
Sha Hong
+/.
2
c.18del
r.(?)
p.(Val7Tyrfs*12)
-
Parent #1
ACMG
pathogenic (recessive)
g.21880592del
g.21554099del
Val-11Tyrfs
-
ALPL_000051
-
PubMed: Cui 2012
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
patient
PubMed: Cui 2012
-
-
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
2
c.29T>C
r.(?)
p.(Ile10Thr)
-
Parent #1
ACMG
pathogenic
g.21880603T>C
g.21554110T>C
-
-
ALPL_000052
-
PubMed: Xu 2018
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
Fam5
PubMed: Xu 2018
-
M
-
China
-
-
0
-
-
2
Johan den Dunnen
+/.
2
c.29T>C
-
p.Ile10Thr
0.29 relative activity, 0.65 WT/combined activity
Unknown
-
NA
g.21880603T>C
g.21554110T>C
-
-
ALPL_000052
cDNA expression cloning varriant and variant+WT in MDCKII cells
PubMed: del Angel 2020
-
-
In vitro (cloned)
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
2
p.(Ile10Thr)
r.(?)
p.(Ile10Thr)
-
Both (homozygous)
ACMG
VUS
g.21880603T>C
g.21554110T>C
-
-
ALPL_000052
-
Versailles lab June 2017
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Versailles lab June 2017
-
-
-
France
-
-
0
-
-
1
Johan den Dunnen
-?/.
2
c.40C>T
-
p.Leu14Phe
1.06 relative activity, 1.13 WT/combined activity
Unknown
-
NA
g.21880614C>T
g.21554121C>T
-
-
ALPL_000452
cDNA expression cloning varriant and variant+WT in MDCKII cells
PubMed: del Angel 2020
-
-
In vitro (cloned)
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
2
c.41T>C
r.(?)
p.(Leu14Pro)
-
Parent #2
-
VUS
g.21880615T>C
g.21554122T>C
Leu-4Pro
-
ALPL_000053
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Versailles lab Jul 2010
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Versailles lab Jul 2010
-
-
-
France
-
-
0
-
-
1
Johan den Dunnen
+?/.
2
c.44C>G
-
p.Thr15Ser
0.88 relative activity, 1.31 WT/combined activity
Unknown
-
NA
g.21880618C>G
g.21554125C>G
-
-
ALPL_000453
cDNA expression cloning varriant and variant+WT in MDCKII cells
PubMed: del Angel 2020
-
-
In vitro (cloned)
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
2
c.46_49del
r.(?)
p.(Asn16Profs*2)
-
Parent #1
ACMG
pathogenic
g.21880620_21880623del
g.21554127_21554130del
43_46delACTA
-
ALPL_000054
-
PubMed: de Roo 2014
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: de Roo 2014
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
2
c.46_49del
r.(?)
p.(Asn16Profs*2)
-
Parent #2
ACMG
pathogenic
g.21880620_21880623del
g.21554127_21554130del
pAsn-2Profs
-
ALPL_000054
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Vidmar 2017, copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Vidmar 2017, copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
2
c.46_49del
r.(?)
p.(Asn16Profs*2)
-
Parent #1
ACMG
pathogenic
g.21880620_21880623del
g.21554127_21554130del
pAsn-2Profs
-
ALPL_000054
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Versailles lab March 2011
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Versailles lab March 2011
-
-
-
France
-
-
0
-
-
1
Johan den Dunnen
+/.
2
c.50C>T
r.(?)
p.(Ser17Phe)
-
Parent #2
-
pathogenic
g.21880624C>T
g.21554131C>T
-
-
ALPL_000055
-
PubMed: Mornet 1998
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Mornet 1998
-
-
-
France
-
-
0
-
-
1
Johan den Dunnen
+/.
2
c.61G>A
r.(?)
p.(Glu21Lys)
-
Unknown
ACMG
pathogenic
g.21880635G>A
g.21554142G>A
Glu4Lys
-
ALPL_000056
unknown variant 2nd allele
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Research center for medical genetics, Moscow, Apr. 2015
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Research center for medical genetics, Moscow, Apr. 2015
-
-
-
Russia
-
-
0
-
-
1
Johan den Dunnen
+/.
2i
c.62-1G>A
r.spl
p.?
-
Unknown
ACMG
pathogenic
g.21887118G>A
g.21560625G>A
-
-
ALPL_000057
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Versailles lab Feb. 2019
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Versailles lab Feb. 2019
-
-
-
France
-
-
0
-
-
1
Johan den Dunnen
+/.
2i
c.62-1G>C
r.spl
p.?
-
Both (homozygous)
ACMG
pathogenic
g.21887118G>C
g.21560625G>C
-
-
ALPL_000058
-
Versailles lab March 2013
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Versailles lab March 2013
-
-
-
France
-
-
0
-
-
1
Johan den Dunnen
+?/.
2i_5
c.(61+1_62-1)_(298_472)del
r.?
p.?
13 U/L (normal >100)
Both (homozygous)
-
VUS
g.(21880636_21887118)_(21889603_21889777)del
g.(21554143_21560625)_(21563110_21563284)del
del ex3-5(?), g.(44834_46878)_(51650_52773)del
-
ALPL_000427
-
PubMed: Spentchian 2006
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
Pat7
PubMed: Spentchian 2006
-
-
-
Portugal
-
-
0
-
-
1
Johan den Dunnen
?/.
3
c.69_74del
r.(?)
p.(Glu23_Lys24del)
-
Parent #1
-
VUS
g.21887126_21887131del
g.21560633_21560638del
Glu4_Lys5del
-
ALPL_000059
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Versailles lab May 2012
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Versailles lab May 2012
-
-
-
France
-
-
0
-
-
1
Johan den Dunnen
+/.
3
c.82T>G
r.(?)
p.(Tyr28Asp)
-
Parent #2
ACMG
pathogenic
g.21887139T>G
g.21560646T>G
Tyr11Asp
-
ALPL_000060
-
PubMed: Yang 2013
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Yang 2013
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
3
c.83A>G
r.(?)
p.(Tyr28Cys)
-
Parent #1
ACMG
pathogenic
g.21887140A>G
g.21560647A>G
Tyr11Cys
-
ALPL_000061
-
PubMed: Taillandier 2001
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Taillandier 2001
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
3
c.85T>C
r.(?)
p.(Trp29Arg)
-
Parent #1
ACMG
pathogenic
g.21887142T>C
g.21560649T>C
Trp12Arg
-
ALPL_000062
-
PubMed: Chen 2017
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Chen 2017
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
3
c.88C>T
r.(?)
p.(Arg30*)
-
Parent #1
ACMG
pathogenic
g.21887145C>T
g.21560652C>T
Arg13Ter
-
ALPL_000063
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Versailles lab Dec 2010
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Versailles lab Dec 2010
-
-
-
France
-
-
0
-
-
1
Johan den Dunnen
+/.
3
c.94C>T
r.(?)
p.(Gln32*)
-
Parent #1
-
pathogenic
g.21887151C>T
g.21560658C>T
Gln15Ter
-
ALPL_000064
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Versailles lab Apr 2011
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Versailles lab Apr 2011
-
-
-
France
-
-
0
-
-
1
Johan den Dunnen
?/.
3
c.97G>C
r.(?)
p.(Ala33Pro)
-
Parent #1
-
VUS
g.21887154G>C
g.21560661G>C
Ala16Pro
-
ALPL_000065
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, University of Brasilia Lab, July 2016
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, University of Brasilia Lab, July 2016
-
-
-
Brazil
-
-
0
-
-
1
Johan den Dunnen
+/.
3
c.98C>T
r.(?)
p.(Ala33Val)
combined activity 6 U/L (normal >30)
Parent #1
-
pathogenic (recessive)
g.21887155C>T
g.21560662C>T
A16V
-
ALPL_000066
-
PubMed: Spentchian 2006
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
Pat3
PubMed: Spentchian 2006
-
-
-
Netherlands
-
-
0
-
-
1
Johan den Dunnen
+/.
3
c.98C>T
r.(?)
p.(Ala33Val)
-
Parent #2
ACMG
pathogenic
g.21887155C>T
g.21560662C>T
Ala16Val
-
ALPL_000066
-
PubMed: Brun-Heath 2005
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Brun-Heath 2005
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
3
c.98C>T
r.(?)
p.(Ala33Val)
-
Parent #1
ACMG
pathogenic
g.21887155C>T
g.21560662C>T
Ala16Val
-
ALPL_000066
-
PubMed: Henthorn 1992
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Henthorn 1992
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
3
c.98C>T
r.(?)
p.(Ala33Val)
-
Both (homozygous)
ACMG
pathogenic
g.21887155C>T
g.21560662C>T
Ala16Val
-
ALPL_000066
-
PubMed: Reis 2020
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Reis 2020
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
3
c.98C>T
-
p.Ala33Val
0.12 relative activity, 0.63 WT/combined activity
Unknown
-
NA
g.21887155C>T
g.21560662C>T
-
-
ALPL_000066
cDNA expression cloning varriant and variant+WT in MDCKII cells
PubMed: del Angel 2020
-
-
In vitro (cloned)
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
3
p.(Thr36Pro)
r.(?)
p.(Thr36Pro)
-
Both (homozygous)
-
VUS
g.21887163A>C
g.21560670A>C
-
-
ALPL_000067
-
Versailles lab Nov 2008
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Versailles lab Nov 2008
-
-
-
France
-
-
0
-
-
1
Johan den Dunnen
-?/.
3
c.107C>T
-
p.Thr36Ile
0.93 relative activity, 0.75 WT/combined activity
Unknown
-
NA
g.21887164C>T
g.21560671C>T
-
-
ALPL_000454
cDNA expression cloning varriant and variant+WT in MDCKII cells
PubMed: del Angel 2020
-
-
In vitro (cloned)
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
3
c.110T>C
r.(?)
p.(Leu37Pro)
-
Both (homozygous)
ACMG
pathogenic
g.21887167T>C
g.21560674T>C
Leu20Pro
-
ALPL_000068
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Versailles lab Oct. 2003
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Versailles lab Oct. 2003
-
-
-
France
-
-
0
-
-
1
Johan den Dunnen
+/.
3
p.(Leu37Pro)
r.(?)
p.(Leu37Pro)
-
Both (homozygous)
ACMG
pathogenic
g.21887167T>C
g.21560674T>C
-
-
ALPL_000068
-
PubMed: del Angel 2020
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: del Angel 2020
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
?/.
3
c.113_117delinsTG
r.(?)
p.(Lys38_Tyr39delinsMet)
-
Unknown
-
VUS
g.21887170_21887174delinsTG
g.21560677_21560681delinsTG
[113_116del;118_119insG] (Lys21_Tyr22delinsMet)
-
ALPL_000069
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Versailles lab Dec. 2017
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Versailles lab Dec. 2017
-
-
-
France
-
-
0
-
-
1
Johan den Dunnen
+?/.
3
c.116A>G
-
p.Tyr39Cys
0.54 relative activity, 0.85 WT/combined activity
Unknown
-
NA
g.21887173A>G
g.21560680A>G
-
-
ALPL_000455
cDNA expression cloning varriant and variant+WT in MDCKII cells
PubMed: del Angel 2020
-
-
In vitro (cloned)
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
3
c.119C>T
r.(?)
p.(Ala40Val)
-
Parent #1
ACMG
pathogenic
g.21887176C>T
g.21560683C>T
Ala23Val
-
ALPL_000070
-
PubMed: del Angel 2020
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: del Angel 2020
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
3
c.119C>T
r.(?)
p.(Ala40Val)
-
Parent #1
ACMG
pathogenic
g.21887176C>T
g.21560683C>T
Ala23Val
-
ALPL_000070
-
PubMed: del Angel 2020
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: del Angel 2020
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
3
c.119C>T
r.(?)
p.(Ala40Val)
-
Parent #1
ACMG
pathogenic
g.21887176C>T
g.21560683C>T
Ala23Val
-
ALPL_000070
-
PubMed: Mornet 1998
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
Mu1
PubMed: Mornet 1998
-
-
-
Germany
-
-
0
-
-
1
Johan den Dunnen
+/.
3
c.119C>T
r.(?)
p.(Ala40Val)
-
Parent #1
ACMG
pathogenic
g.21887176C>T
g.21560683C>T
Ala23Val
-
ALPL_000070
-
PubMed: del Angel 2020
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: del Angel 2020
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
3
c.119C>T
r.(?)
p.(Ala40Val)
-
Parent #1
ACMG
pathogenic
g.21887176C>T
g.21560683C>T
Ala23Val
-
ALPL_000070
-
PubMed: del Angel 2020
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: del Angel 2020
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
3
c.119C>T
r.(?)
p.(Ala40Val)
-
Parent #2
ACMG
pathogenic
g.21887176C>T
g.21560683C>T
-
-
ALPL_000070
-
PubMed: Taillandier 2000
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Taillandier 2000
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
3
c.119C>T
r.(?)
p.(Ala40Val)
-
Parent #2
ACMG
pathogenic
g.21887176C>T
g.21560683C>T
-
-
ALPL_000070
-
PubMed: Taillandier 2001
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Taillandier 2001
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
3
c.119C>T
-
p.Ala40Val
0.07 relative activity, 0.87 WT/combined activity
Unknown
-
NA
g.21887176C>T
g.21560683C>T
-
-
ALPL_000070
cDNA expression cloning varriant and variant+WT in MDCKII cells
PubMed: del Angel 2020
-
-
In vitro (cloned)
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
3
c.129del
r.(?)
p.(Gln44Argfs*24)
-
Parent #1
ACMG
pathogenic
g.21887186del
g.21560693del
Gln27Argfs
-
ALPL_000071
-
PubMed: Whyte 2015
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Whyte 2015
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
3
c.130C>T
r.(?)
p.(Gln44*)
-
Parent #1
ACMG
pathogenic
g.21887187C>T
g.21560694C>T
Gln27Ter
-
ALPL_000072
-
PubMed: Mornet 2020
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Mornet 2020
-
-
-
France
-
-
0
-
-
1
Johan den Dunnen
?/.
3
c.140A>T
r.(?)
p.(Asn47Ile)
-
Parent #1
-
VUS
g.21887197A>T
g.21560704A>T
Asn30Ile
-
ALPL_000073
no variant 2nd allele
PubMed: Saglam 2017
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Saglam 2017
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
?/.
3
p.(Asn47Ile)
r.(?)
p.(Asn47Ile)
-
Both (homozygous)
-
VUS
g.21887197A>T
g.21560704A>T
-
-
ALPL_000073
-
PubMed: Saglam 2017
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Saglam 2017
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
?/.
3
c.146A>T
r.(?)
p.(Asn49Ile)
-
Parent #2
-
VUS
g.21887203A>T
g.21560710A>T
Asn32Ile
-
ALPL_000074
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Versailles lab May 2012
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Versailles lab May 2012
-
-
-
France
-
-
0
-
-
1
Johan den Dunnen
+/.
3
c.151G>T
r.(?)
p.(Ala51Ser)
-
Parent #1
ACMG
pathogenic
g.21887208G>T
g.21560715G>T
Ala34Ser
-
ALPL_000075
-
PubMed: Mumm 2002
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
Pat9
PubMed: Mumm 2002
-
-
-
United States
-
-
0
-
-
1
Johan den Dunnen
./.
-
c.152C>T
r.(?)
p.(Ala51Val)
-
Unknown
-
VUS
g.21887209C>T
g.21560716C>T
-
-
ALPL_000001
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG, SEQ
blood
-
ACRDYS1
-
PubMed: Bell 2011
-
-
-
-
-
-
0
-
-
1
Global Variome, with Curator vacancy
+/.
3
c.152C>T
r.(?)
p.(Ala51Val)
-
Parent #2
ACMG
pathogenic
g.21887209C>T
g.21560716C>T
Ala34Val
-
ALPL_000001
-
PubMed: Taillandier 2000
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Taillandier 2000
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
3
c.152C>T
r.(?)
p.(Ala51Val)
-
Parent #1
ACMG
pathogenic
g.21887209C>T
g.21560716C>T
Ala34Val
-
ALPL_000001
-
PubMed: Taillandier 2001
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Taillandier 2001
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
3
c.152C>T
r.(?)
p.(Ala51Val)
-
Parent #2
ACMG
pathogenic
g.21887209C>T
g.21560716C>T
-
-
ALPL_000001
-
PubMed: Taillandier 2001
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Taillandier 2001
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
3
c.152C>T
-
p.Ala51Val
0.04 relative activity, 0.52 WT/combined activity
Unknown
-
NA
g.21887209C>T
g.21560716C>T
-
-
ALPL_000001
cDNA expression cloning varriant and variant+WT in MDCKII cells
PubMed: del Angel 2020
-
-
In vitro (cloned)
-
-
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
3
p.(Ala51Val)
r.(?)
p.(Ala51Val)
-
Both (homozygous)
ACMG
pathogenic
g.21887209C>T
g.21560716C>T
-
-
ALPL_000001
-
PubMed: del Angel 2020
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: del Angel 2020
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+?/.
3
c.165_167del
r.(?)
p.(Ile55del)
-
Parent #1
ACMG
likely pathogenic
g.21887222_21887224del
g.21560729_21560731del
Ile38del
-
ALPL_000456
-
PubMed: del Angel 2020
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: del Angel 2020
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
?/.
3
c.178G>C
r.(?)
p.(Asp60His)
-
Unknown
ACMG
VUS
g.21887235G>C
g.21560742G>C
Asp43His
-
ALPL_000076
-
PubMed: McKiernan 2017
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: McKiernan 2017
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
3
c.180T>G
r.(?)
p.(Asp60Glu)
-
Unknown
ACMG
pathogenic
g.21887237T>G
g.21560744T>G
Asp43Glu
-
ALPL_000077
-
PubMed: Whyte 2015
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Whyte 2015
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
?/.
3i
c.182-3C>A
r.spl?
p.?
-
Parent #1
-
VUS
g.21887587C>A
g.21561094C>A
-
-
ALPL_000457
-
PubMed: Mornet 2020
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Mornet 2020
-
-
-
France
-
-
0
-
-
1
Johan den Dunnen
+/.
3i
c.182-2A>C
r.spl
p.?
-
Unknown
ACMG
pathogenic
g.21887588A>C
g.21561095A>C
-
-
ALPL_000078
-
PubMed: Whyte 2015
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Whyte 2015
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
4
c.184A>G
r.(?)
p.(Met62Val)
2-16 U/L (normal >100)
Both (homozygous)
-
pathogenic (recessive)
g.21887592A>G
g.21561099A>G
-
-
ALPL_000080
-
PubMed: Spentchian 2003
,
Journal: Spentchian 2003
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
PatA
PubMed: Spentchian 2003
,
Journal: Spentchian 2003
-
-
-
Turkey
-
-
0
-
-
1
Johan den Dunnen
+/.
4
c.184A>T
r.(?)
p.(Met62Leu)
-
Parent #2
ACMG
pathogenic
g.21887592A>T
g.21561099A>T
Met45Leu
-
ALPL_000079
-
PubMed: Taillandier 1999
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Taillandier 1999
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
4
c.186G>C
r.(?)
p.(Met62Ile)
-
Parent #1
ACMG
pathogenic
g.21887594G>C
g.21561101G>C
Met45Ile
-
ALPL_000081
-
PubMed: Taillandier 2005
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Taillandier 2005
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
4
c.187G>C
r.(?)
p.(Gly63Arg)
9-50 U/L (normal >100)
Both (homozygous)
-
pathogenic (recessive)
g.21887595G>C
g.21561102G>C
-
-
ALPL_000082
-
PubMed: Spentchian 2003
,
Journal: Spentchian 2003
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
PatJ
PubMed: Spentchian 2003
,
Journal: Spentchian 2003
-
-
-
Serbia
-
-
0
-
-
1
Johan den Dunnen
+/.
4
c.187_205del
r.(?)
p.(Gly63Leufs*53)
-
Unknown
-
pathogenic
g.21887595_21887613del
g.21561102_21561120del
187_205del19
-
ALPL_000083
-
PubMed: Taillandier 2017
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Taillandier 2017
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
4
c.187_205del
r.(?)
p.(Gly63Leufs*53)
-
Parent #1
-
pathogenic
g.21887595_21887613del
g.21561102_21561120del
187_205del19
-
ALPL_000083
no variant 2nd allele
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Versailles lab Jan 2010
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Versailles lab Jan 2010
-
-
-
France
-
-
0
-
-
1
Johan den Dunnen
+/.
4
c.188G>T
r.(?)
p.(Gly63Val)
-
Unknown
ACMG
pathogenic
g.21887596G>T
g.21561103G>T
Gly46Val
-
ALPL_000084
-
PubMed: Lia-Baldini 2001
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Lia-Baldini 2001
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
4
c.188_205dup
r.(?)
p.(Gly63_Thr68dup)
-
Unknown
ACMG
pathogenic
g.21887596_21887613dup
g.21561103_21561120dup
188_205dup18
-
ALPL_000085
unknown variant 2nd allele
PubMed: Guanabens 2013
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Guanabens 2013
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
?/.
4
p.(Ser65Tyr)
r.(?)
p.(Ser65Tyr)
-
Both (homozygous)
-
VUS
g.21887602C>A
g.21561109C>A
-
-
ALPL_000086
-
PubMed: Saglam 2017
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Saglam 2017
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
?/.
4
c.202_204del
r.(?)
p.(Thr68del)
-
Unknown
-
VUS
g.21887610_21887612del
g.21561117_21561119del
Thr51del
-
ALPL_000087
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, S. Lazarus, Royal Brisbane Women's Hospital, Herston, Australia
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, S. Lazarus, Royal Brisbane Women's Hospital, Herston, Australia
-
-
-
Australia
-
-
0
-
-
1
Johan den Dunnen
+/.
4
c.203C>T
r.(?)
p.(Thr68Met)
-
Unknown
ACMG
pathogenic
g.21887611C>T
g.21561118C>T
Thr51Met
-
ALPL_000088
-
PubMed: del Angel 2020
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: del Angel 2020
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
4
c.203C>T
r.(?)
p.(Thr68Met)
-
Parent #1
ACMG
pathogenic
g.21887611C>T
g.21561118C>T
Thr51Met
-
ALPL_000088
-
PubMed: Orimo 2002
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Orimo 2002
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
4
c.203C>T
r.(?)
p.(Thr68Met)
-
Parent #1
ACMG
pathogenic
g.21887611C>T
g.21561118C>T
Thr51Met
-
ALPL_000088
-
PubMed: del Angel 2020
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: del Angel 2020
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
4
c.203C>T
r.(?)
p.(Thr68Met)
-
Parent #2
ACMG
pathogenic
g.21887611C>T
g.21561118C>T
-
-
ALPL_000088
-
PubMed: del Angel 2020
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: del Angel 2020
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
4
c.203C>T
r.(?)
p.(Thr68Met)
-
Parent #2
ACMG
pathogenic
g.21887611C>T
g.21561118C>T
-
-
ALPL_000088
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Versailles lab Nov. 2013,
PubMed: del Angel 2020
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
copied from
Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
, Versailles lab Nov. 2013,
PubMed: del Angel 2020
-
-
-
France
-
-
0
-
-
1
Johan den Dunnen
+/.
4
c.203C>T
r.(?)
p.(Thr68Met)
-
Parent #1
ACMG
pathogenic
g.21887611C>T
g.21561118C>T
Thr51Met
-
ALPL_000088
-
PubMed: Mao 2019
-
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
HPP
-
PubMed: Mao 2019
-
-
-
-
-
-
0
-
-
1
Johan den Dunnen
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