Global Variome shared LOVD
PYGM (phosphorylase, glycogen, muscle)
LOVD v.3.0 Build 30b [
Current LOVD status
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Curator:
Irene Vieitez
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The variants shown are described using the NM_005609.2 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)
conflicting
association
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arrayMET = array for methylation analysis
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = single molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
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Operator
Column type
Example
Matches
Text
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space
Text
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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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!=""
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!=""
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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.-5505G>A
r.(?)
p.(=)
Unknown
-
likely benign
g.64532875C>T
-
SF1(NM_201995.2):c.1903G>A (p.G635S)
-
SF1_000007
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
1
c.1A>C
r.(?)
p0?
Parent #1
-
likely pathogenic
g.64527370T>G
g.64759898T>G
M0L; p.M1L
-
PYGM_000005
-
PubMed: abstract 7603523
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 7603523
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
+?/.
1
c.1A>G
r.(?)
p0?
Parent #1
-
likely pathogenic
g.64527370T>C
g.64759898T>C
M0V; p.M1V
-
PYGM_000013
-
PubMed: abstract 9506549
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 9506549
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
+/.
-
c.1A>G
r.(?)
p.(Met1?)
Unknown
-
pathogenic
g.64527370T>C
g.64759898T>C
PYGM(NM_001164716.1):c.1A>G (p.M1?), PYGM(NM_005609.4):c.1A>G (p.M1?)
-
PYGM_000013
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.1A>G
r.(?)
p.(Met1?)
Unknown
-
pathogenic
g.64527370T>C
-
PYGM(NM_001164716.1):c.1A>G (p.M1?), PYGM(NM_005609.4):c.1A>G (p.M1?)
-
PYGM_000013
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.1A>G
r.(?)
p.(Met1?)
Unknown
-
likely pathogenic
g.64527370T>C
-
PYGM(NM_001164716.1):c.1A>G (p.M1?), PYGM(NM_005609.4):c.1A>G (p.M1?)
-
PYGM_000013
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
1
c.13_14del
r.(?)
p.(Leu5Valfs*22)
Parent #1
-
likely pathogenic
g.64527357_64527358del
g.64759885_64759886del
13_14delCT
-
PYGM_000070
-
PubMed: abstract 17172620
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 17172620
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
+/.
-
c.13_14del
r.(?)
p.(Leu5ValfsTer22)
Both (homozygous)
-
pathogenic (recessive)
g.64527357_64527358del
g.64759885_64759886del
c.13_14delCT
-
PYGM_000070
-
PubMed: Marti 2025
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
hCK
Pat57
PubMed: Marti 2025
patient, no family history
-
-
Spain
-
-
-
-
-
1
Johan den Dunnen
+?/.
1
c.14del
r.(?)
p.(Leu5Argfs*21)
Parent #1
-
likely pathogenic
g.64527357del
g.64759885del
L5RfsX20
-
PYGM_000119
-
PubMed: abstract 21802952
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 21802952
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
+?/.
1
c.21_28dup
r.(?)
p.(Lys10Thrfs*19)
Parent #1
-
likely pathogenic
g.64527346_64527353dup
g.64759874_64759881dup
21_28dup8
-
PYGM_000143
-
PubMed: Wang 2013
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
GSD5
P5
PubMed: Wang 2013
-
F
-
United States
-
-
-
-
-
1
Gisela Nogales
+/.
1
c.46delinsTT
r.(?)
p.(Val16Phefs*12)
Parent #1
-
pathogenic
g.64527325delinsAA
g.64759853delinsAA
46delGinsTT
-
PYGM_000007
-
PubMed: Bartram 1994
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: Bartram 1994
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Gisela Nogales
+?/.
1
c.78_79del
r.(?)
p.(Glu27Alafs*50)
Parent #1
-
likely pathogenic
g.64527292_64527293del
g.64759820_64759821del
T25fs
-
PYGM_000046
-
PubMed: abstract 15979037
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 15979037
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
+?/.
-
c.78_79del
r.(?)
p.(Glu27Alafs*50)
Unknown
-
likely pathogenic
g.64527292_64527293del
g.64759820_64759821del
-
-
PYGM_000046
combination of variants not reported
PubMed: Topf 2020
-
-
Germline
-
1/1001 cases
-
-
-
DNA
SEQ, SEQ-NG
-
WES
LGMD
-
PubMed: Topf 2020
analysis 1001 patients with unexplained limb-girdle weakness
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+?/.
1
c.104A>G
r.(?)
p.(His35Arg)
Parent #1
-
likely pathogenic
g.64527267T>C
g.64759795T>C
-
-
PYGM_000151
-
-
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
-
-
M
?
Spain
-
-
-
-
-
1
Irene Vieitez
+?/.
1
c.107T>C
r.(?)
p.(Leu36Pro)
Parent #1
-
likely pathogenic
g.64527264A>G
g.64759792A>G
-
-
PYGM_000107
-
PubMed: abstract 19472443
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 19472443
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
+?/.
1
c.107T>G
r.(?)
p.(Leu36Arg)
Parent #1
-
likely pathogenic
g.64527264A>C
g.64759792A>C
-
-
PYGM_000116
-
PubMed: abstract 21802952
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 21802952
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
+?/.
-
c.107T>G
r.(?)
p.(Leu36Arg)
Unknown
-
likely pathogenic
g.64527264A>C
g.64759792A>C
-
-
PYGM_000116
combination of variants not reported
PubMed: Topf 2020
-
-
Germline
-
1/1001 cases
-
-
-
DNA
SEQ, SEQ-NG
-
WES
LGMD
-
PubMed: Topf 2020
analysis 1001 patients with unexplained limb-girdle weakness
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+?/.
1
c.111_133del
r.(?)
p.(His37Glnfs*33)
Parent #1
-
likely pathogenic
g.64527241_64527263del
g.64759769_64759791del
-
-
PYGM_000118
-
PubMed: abstract 21802952
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 21802952
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
+/.
-
c.123_124insCC
r.(?)
p.(Lys42Profs*48)
Both (homozygous)
-
pathogenic (recessive)
g.64527247_64527248insGG
g.64759775_64759776insGG
-
-
PYGM_000168
-
PubMed: Cheraud 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
MYOP
Pat1
PubMed: Cheraud 2018
2-generation family, 1 affected, unaffected heterozygous carrier parents
F
-
France
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.123_124insCC
r.(?)
p.(Lys42Profs*48)
Both (homozygous)
-
pathogenic (recessive)
g.64527247_64527248insGG
g.64759775_64759776insGG
-
-
PYGM_000168
-
PubMed: Cheraud 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
MYOP
Pat2
PubMed: Cheraud 2018
2-generation family, 1 affected, unaffected heterozygous carrier parents
M
-
France
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.148C>T
r.148c>u
p.Arg50*
Both (homozygous)
-
pathogenic
g.64527223G>A
g.64759751G>A
R49X
-
PYGM_000002
-
PubMed: Tsujino 1993
,
OMIM:var0001
-
rs116987552
Unknown
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
GSD5
-
PubMed: Tsujino 1993
2/40 homozygous patients
-
-
United States
-
-
-
-
-
2
Gisela Nogales
+/.
1
c.148C>T
r.(?)
p.(Arg50*)
Both (homozygous)
-
pathogenic
g.64527223G>A
g.64759751G>A
R49X
-
PYGM_000002
-
PubMed: Tsujino 1993
,
OMIM:var0001
-
rs116987552
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: Tsujino 1993
16/40 homozygous patients
-
-
United States
-
-
-
-
-
16
Gisela Nogales
+/.
1
c.148C>T
r.148c>u
p.Arg50*
Parent #1
-
pathogenic
g.64527223G>A
g.64759751G>A
R49X
-
PYGM_000002
-
PubMed: Tsujino 1993
,
OMIM:var0001
-
rs116987552
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: Tsujino 1993
2-generation family, compound heterozygous mother of 3 affected children
-
-
United States
-
-
-
-
-
1
Gisela Nogales
+/.
1
c.148C>T
r.0
p.0
Parent #2
-
pathogenic
g.64527223G>A
g.64759751G>A
R50X
-
PYGM_000002
-
PubMed: Garcia-Consuegra 2009
-
-
Unknown
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
GSD5
-
PubMed: Garcia-Consuegra 2009
-
-
-
Spain
-
-
-
-
-
1
Gisela Nogales
+/.
1
c.148C>T
r.(?)
p.(Arg50*)
Maternal (confirmed)
-
pathogenic
g.64527223G>A
g.64759751G>A
R49X
-
PYGM_000002
-
PubMed: Tsujino 1993
,
OMIM:var0001
-
rs116987552
Germline
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: Tsujino 1993
2-generation family, compound heterozygous 2nd son/daugther
-
-
United States
-
-
-
-
-
1
Gisela Nogales
+/.
1
c.148C>T
r.0
p.0
Parent #2
-
pathogenic
g.64527223G>A
g.64759751G>A
R50X
-
PYGM_000002
no RNA detected
PubMed: Garcia-Consuegra 2009
-
-
Unknown
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
GSD5
-
PubMed: Garcia-Consuegra 2009
-
-
-
Spain
-
-
-
-
-
1
Gisela Nogales
+/.
1
c.148C>T
r.(?)
p.(Arg50*)
Parent #2
-
pathogenic
g.64527223G>A
g.64759751G>A
R49X
-
PYGM_000002
-
PubMed: Bartram 1994
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: Bartram 1994
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Gisela Nogales
+/.
1
c.148C>T
r.(?)
p.(Arg50*)
Parent #2
-
pathogenic
g.64527223G>A
g.64759751G>A
-
-
PYGM_000002
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
-
-
F
no
Spain
-
-
-
-
-
1
Irene Vieitez
+/.
1
c.148C>T
r.(?)
p.(Arg50*)
Parent #2
-
pathogenic
g.64527223G>A
g.64759751G>A
-
-
PYGM_000002
-
-
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
-
-
M
?
Spain
-
-
-
-
-
1
Irene Vieitez
+/+
1
c.148C>T
r.(?)
p.(Arg50*)
Parent #2
-
pathogenic
g.64527223G>A
g.64759751G>A
-
-
PYGM_000002
-
-
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
GSD5
-
-
-
M
?
-
-
-
-
-
-
1
Irene Vieitez
+/.
1
c.148C>T
r.(?)
p.(Arg50*)
Parent #2
-
pathogenic (recessive)
g.64527223G>A
g.64759751G>A
R49X
-
PYGM_000002
-
PubMed: Martin 2001
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
GSD5
?/Pat197
PubMed: Martin 2001
,
PubMed: Park 2017
-
-
-
Spain
-
-
-
-
-
1
Gisela Nogales
+/.
-
c.148C>T
r.(?)
p.(Arg50Ter)
Unknown
-
pathogenic
g.64527223G>A
g.64759751G>A
PYGM(NM_001164716.1):c.148C>T (p.R50*), PYGM(NM_005609.4):c.148C>T (p.R50*)
-
PYGM_000002
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.148C>T
r.(?)
p.(Arg50*)
Unknown
-
likely pathogenic
g.64527223G>A
g.64759751G>A
-
-
PYGM_000002
combination of variants not reported
PubMed: Topf 2020
-
-
Germline
-
2/1001 cases
-
-
-
DNA
SEQ, SEQ-NG
-
WES
LGMD
-
PubMed: Topf 2020
analysis 1001 patients with unexplained limb-girdle weakness
-
-
-
-
-
-
-
-
2
Johan den Dunnen
+/.
-
c.148C>T
r.(?)
p.(Arg50Ter)
Unknown
-
pathogenic
g.64527223G>A
-
PYGM(NM_001164716.1):c.148C>T (p.R50*), PYGM(NM_005609.4):c.148C>T (p.R50*)
-
PYGM_000002
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.148C>T
r.(?)
p.(Arg50Ter)
Unknown
-
pathogenic
g.64527223G>A
-
PYGM(NM_001164716.1):c.148C>T (p.R50*), PYGM(NM_005609.4):c.148C>T (p.R50*)
-
PYGM_000002
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.148C>T
r.(?)
p.(Arg50Ter)
Parent #1
ACMG
pathogenic
g.64527223G>A
g.64759751G>A
-
-
PYGM_000002
ACMG PVS1, PS3, PM3, PP1
PubMed: Cerino 2022
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
MYOP
P36/Myo099
PubMed: Cerino 2022
analysis 82 myopathy patients
-
-
Chile
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.148C>T
r.(?)
p.(Arg50Ter)
Both (homozygous)
ACMG
pathogenic
g.64527223G>A
g.64759751G>A
-
-
PYGM_000002
ACMG PVS1, PS3, PM3_Strong, PP4, BS1
PubMed: Cerino 2022
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
MYOP
P77/Myo153
PubMed: Cerino 2022
analysis 82 myopathy patients
-
-
Chile
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.148C>T
r.(?)
p.(Arg50Ter)
Both (homozygous)
ACMG
pathogenic
g.64527223G>A
g.64759751G>A
-
-
PYGM_000002
-
Pending
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
WGS
GSD5
-
Pending
-
M
-
France
-
-
-
-
-
2
Camille Verebi
+/.
-
c.148C>T
r.(?)
p.(Arg50Ter)
Unknown
-
pathogenic
g.64527223G>A
g.64759751G>A
-
-
PYGM_000002
variants reported seperately, unknown if mono-allelic or bi-allelic
PubMed: Retterer 2016
-
-
Unknown
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
?
-
PubMed: Retterer 2016
analysis proband (1/3040); possible combination of variants not reported
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.148C>T
r.(?)
p.(Arg50*)
Unknown
-
likely pathogenic
g.64527223G>A
g.64759751G>A
-
-
PYGM_000002
-
PubMed: Mohamed 2026
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
rhabdomyolysis panel
?
Pat1
PubMed: Mohamed 2026
-
F
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+?/.
1
c.152A>G
r.(?)
p.(Asp51Gly)
Parent #1
-
likely pathogenic
g.64527219T>C
g.64759747T>C
-
-
PYGM_000133
-
PubMed: abstract 21880526
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 21880526
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
+?/.
1
c.158_160del
r.(?)
p.(Tyr53del)
Parent #1
-
likely pathogenic
g.64527217_64527219del
g.64759745_64759747del
158_160delACT
-
PYGM_000134
-
PubMed: abstract 21880526
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 21880526
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
+?/.
1
c.159C>G
r.(?)
p.(Tyr53*)
Parent #1
-
likely pathogenic
g.64527212G>C
g.64759740G>C
Y52X
-
PYGM_000034
-
PubMed: abstract 11809171
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 11809171
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
?/.
-
c.160T>G
r.(?)
p.(Phe54Val)
Unknown
-
VUS
g.64527211A>C
-
PYGM(NM_005609.4):c.160T>G (p.(Phe54Val))
-
SF1_000017
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
1
c.164_168del
r.(?)
p.(Ala55Glyfs*21)
Parent #1
-
likely pathogenic
g.64527205_64527209del
g.64759733_64759737del
164_168delCTCTG
-
PYGM_000120
-
PubMed: Vieitez I et al. 2011
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 21802952
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
?/.
1
c.208C>T
r.(?)
p.(Arg70Cys)
Unknown
ACMG
VUS
g.64527163G>A
g.64759691G>A
-
-
PYGM_000193
-
Verebi et al. (submitted)
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
-
WGS
GSD5
-
Verebi et al. (submitted)
-
M
-
France
-
-
-
-
-
2
Camille Verebi
+?/.
1
c.212_218dup
r.(?)
p.(Gln73Hisfs*7)
Parent #1
-
likely pathogenic
g.64527156_64527162dup
g.64759684_64759690dup
212_218dupCGCAGCA
-
PYGM_000074
-
PubMed: abstract 17221871
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 17221871
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
+?/.
1
c.225C>A
r.(?)
p.(Tyr75*)
Parent #1
-
likely pathogenic
g.64527146G>T
g.64759674G>T
-
-
PYGM_000136
-
PubMed: abstract 21880526
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 21880526
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
+?/.
2
c.247A>T
r.(?)
p.(Ile83Phe)
Parent #1
-
likely pathogenic
g.64526173T>A
g.64758701T>A
-
-
PYGM_000076
-
PubMed: abstract 17221871
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 17221871
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
+?/.
2
c.255C>A
r.(?)
p.(Tyr85*)
Parent #1
-
likely pathogenic
g.64526165G>T
g.64758693G>T
Y84X
-
PYGM_000038
-
PubMed: abstract 12508303
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 12508303
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
+?/.
-
c.255C>A
r.(?)
p.(Tyr85*)
Unknown
-
likely pathogenic
g.64526165G>T
-
-
-
PYGM_000038
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
2
c.280C>T
r.(?)
p.(Arg94Trp)
Parent #1
-
likely pathogenic
g.64526140G>A
g.64758668G>A
R93W
-
PYGM_000039
-
PubMed: abstract 12508303
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 12508303
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
+?/.
-
c.280C>T
r.(?)
p.(Arg94Trp)
Unknown
-
likely pathogenic
g.64526140G>A
g.64758668G>A
-
-
PYGM_000039
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
2
c.281G>A
r.(?)
p.(Arg94Gln)
Unknown
-
likely pathogenic
g.64526139C>T
g.64758667C>T
-
-
PYGM_000150
-
-
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
-
-
F
?
Spain
-
-
-
-
-
1
Irene Vieitez
+?/.
2
c.281G>C
NM_005609.2:c.281G>C
p.Arg94Pro
Both (homozygous)
-
likely pathogenic
g.64758667C>G
g.64991195C>G
-
-
PYGM_000153
-
Nabavi Nouri M, Lamhonwah AM, Tein I; to be submitted for publication
-
-
Germline
-
-
-
-
-
RNA
SEQ
blood DNA
-
myoglobinuria
-
-
-
F
yes
India
East Indian
-
-
-
-
1
Ingrid Tein
+?/.
2
c.305del
r.(?)
p.(Asn102Thrfs*4)
Parent #1
-
likely pathogenic
g.64526116del
g.64758644del
p.N102DfsX4
-
PYGM_000063
-
PubMed: abstract 16786513
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 16786513
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
+?/.
-
c.331G>T
r.(?)
p.(Glu111Ter)
Both (homozygous)
ACMG
likely pathogenic
g.64526089C>A
g.64758617C>A
-
-
PYGM_000195
ACMG PVS1, PM2
PubMed: Molaei 2025
SCV001755306
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
MYOP
Fam9602512Pat1143
PubMed: Molaei 2025
analysis 2009 neuromuscular disorder individuals; patient, no family history
M
no
Iran
-
-
-
-
-
1
Johan den Dunnen
+?/.
2
c.341del
r.(?)
p.(Tyr114Serfs*181)
Parent #1
-
likely pathogenic
g.64526079del
g.64758607del
-
-
PYGM_000137
-
PubMed: abstract 21880526
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 21880526
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
+?/.
3
c.347T>C
r.(?)
p.(Leu116Pro)
Parent #1
-
likely pathogenic
g.64525986A>G
g.64758514A>G
L115P
-
PYGM_000019
-
PubMed: abstract 10417800
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 10417800
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
+?/.
3
c.373G>T
r.(?)
p.(Glu125*)
Parent #1
-
likely pathogenic
g.64525960C>A
g.64758488C>A
E124X
-
PYGM_000032
-
PubMed: abstract 11706962
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 11706962
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
+?/.
3
c.393del
r.(?)
p.(Leu132Trpfs*163)
Parent #1
-
likely pathogenic
g.64525943del
g.64758471del
-
-
PYGM_000149
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
-
-
F
no
Spain
-
-
-
-
-
1
Irene Vieitez
+?/.
3
c.402del
r.(?)
p.(Asn134Lysfs*161)
Parent #1
-
likely pathogenic
g.64525931del
g.64758459del
-
-
PYGM_000077
-
PubMed: abstract 17221871
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 17221871
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
+?/.
3
c.403G>A
r.(?)
p.(Gly135Arg)
Parent #1
-
likely pathogenic
g.64525930C>T
g.64758458C>T
-
-
PYGM_000111
-
PubMed: abstract 19472443
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 19472443
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
+?/.
3
c.407del
r.(?)
p.(Gly136Alafs*159)
Parent #1
-
likely pathogenic
g.64525930del
g.64758458del
-
-
PYGM_000139
-
PubMed: abstract 22250184
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 22250184
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
+?/.
3
c.407G>A
r.(?)
p.(Gly136Asp)
Parent #1
-
likely pathogenic
g.64525926C>T
g.64758454C>T
-
-
PYGM_000088
-
PubMed: abstract 17324573
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 17324573
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
+?/.
3
c.415C>T
r.(?)
p.(Arg139Trp)
Parent #1
-
likely pathogenic
g.64525918G>A
g.64758446G>A
R138W
-
PYGM_000044
-
PubMed: abstract 14748827
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 14748827
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
+?/.
-
c.415C>T
r.(?)
p.(Arg139Trp)
Unknown
-
likely pathogenic
g.64525918G>A
-
PYGM(NM_005609.4):c.415C>T (p.R139W)
-
PYGM_000044
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
3i
c.425-26A>G
r.spl
p.(=)
Parent #1
-
likely pathogenic
g.64525847T>C
g.64758375T>C
-
-
PYGM_000106
-
PubMed: abstract 19433441
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 19433441
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
-/.
-
c.425-22C>T
r.(=)
p.(=)
Unknown
-
benign
g.64525843G>A
g.64758371G>A
-
-
PYGM_000165
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
4
c.458T>C
r.(?)
p.(Leu153Pro)
Parent #1
-
likely pathogenic
g.64525788A>G
g.64758316A>G
-
-
PYGM_000127
-
PubMed: abstract 21802952
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 21802952
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
+?/.
4
c.458T>G
r.(?)
p.(Leu153Arg)
Parent #1
-
likely pathogenic
g.64525788A>C
g.64758316A>C
-
-
PYGM_000128
-
PubMed: abstract 21802952
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 21802952
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
+?/.
4
c.470G>T
r.(?)
p.(Gly157Val)
Parent #1
-
likely pathogenic
g.64525776C>A
g.64758304C>A
-
-
PYGM_000098
-
PubMed: abstract 17404776
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 17404776
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
+?/.
4
c.475G>A
r.(?)
p.(Gly159Arg)
Parent #1
-
likely pathogenic
g.64525771C>T
g.64758299C>T
-
-
PYGM_000064
-
PubMed: abstract 16786513
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 16786513
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
+?/.
4
c.481C>T
r.(?)
p.(Arg161Cys)
Parent #1
-
likely pathogenic
g.64525765G>A
g.64758293G>A
-
-
PYGM_000099
-
PubMed: abstract 17404776
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 17404776
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
+?/.
-
c.507G>T
r.(?)
p.(Gln169His)
Unknown
-
likely pathogenic
g.64525739C>A
-
PYGM(NM_005609.4):c.507G>T (p.Q169H)
-
PYGM_000181
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
4
c.509_511del
r.(?)
p.(Lys170del)
Parent #1
-
likely pathogenic
g.64525738_64525740del
g.64758266_64758268del
509_511delAGA
-
PYGM_000089
-
PubMed: abstract 17324573
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 17324573
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
+?/.
4
c.521G>A
r.(?)
p.(Gly174Asp)
Parent #1
-
likely pathogenic
g.64525725C>T
g.64758253C>T
-
-
PYGM_000078
-
PubMed: abstract 17221871
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 17221871
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
?/.
-
c.527A>G
r.(?)
p.(Gln176Arg)
Both (homozygous)
ACMG
VUS
g.64525719T>C
g.64758247T>C
-
-
PYGM_000194
ACMG PM2, PP3
PubMed: Molaei 2025
SCV006075173
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
MYOP
Fam16537Pat217
PubMed: Molaei 2025
analysis 2009 neuromuscular disorder individuals; patient, no family history
M
yes
Iran
-
-
-
-
-
1
Johan den Dunnen
+/.
4i
c.528-8G>A
r.527_528ins528-6_528-1
p.Gln176_Met177insValGln
Parent #1
-
pathogenic
g.64525726C>T
g.64758254C>T
-
-
PYGM_000146
RNA expression 1.54 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message.
PubMed: Garcia-Consuegra 2009
-
-
Unknown
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
GSD5
-
PubMed: Garcia-Consuegra 2009
-
-
-
Spain
-
-
-
-
-
1
Gisela Nogales
+?/.
5
c.580C>T
r.(?)
p.(Arg194Trp)
Parent #1
-
likely pathogenic
g.64525331G>A
g.64757859G>A
R193W
-
PYGM_000023
-
PubMed: abstract 10679948
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 10679948
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
?/.
5
c.612C>T
r.spl?
p.(Tyr204=)
Parent #1
-
VUS
g.64525299G>A
g.64757827G>A
-
-
PYGM_000001
patient heterozygous for PHKB variant of unknown significance
-
-
-
Unknown
-
-
-
-
-
DNA
SEQ-NG-I, SEQ
-
-
GSD
-
-
-
F
no
United Kingdom (Great Britain)
-
-
-
-
-
1
Shu Yau
+/.
5
c.613G>A
c.613g>a
p.(Gly205Ser)
Parent #1
-
pathogenic
g.64525298C>T
g.64757826C>T
G204S
-
PYGM_000003
-
PubMed: Tsujino 1993
,
OMIM:var0002
-
rs119103251
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: Tsujino 1993
-
-
-
United States
-
-
-
-
-
1
Gisela Nogales
+/.
5
c.613G>A
r.(?)
p.(Gly205Ser)
Maternal (confirmed)
-
pathogenic
g.64525298C>T
g.64757826C>T
G204S
-
PYGM_000003
-
PubMed: Tsujino 1993
,
OMIM:var0002
-
rs119103251
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: Tsujino 1993
2-generation family, compound heterozygous son/daugther
-
-
United States
-
-
-
-
-
2
Gisela Nogales
+?/.
5
c.613G>A
r.(?)
p.(Gly205Ser)
Parent #2
-
likely pathogenic
g.64525298C>T
g.64757826C>T
G205S
-
PYGM_000003
-
PubMed: Garcia-Consuegra 2009
-
-
Unknown
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
GSD5
-
PubMed: Garcia-Consuegra 2009
-
-
-
Spain
-
-
-
-
-
1
Gisela Nogales
+/.
5
c.613G>A
r.613g>a
p.Gly205Ser
Parent #2
-
pathogenic
g.64525298C>T
g.64757826C>T
G204S
-
PYGM_000003
-
PubMed: Tsujino 1993
,
OMIM:var0002
-
rs119103251
Germline
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: Tsujino 1993
2-generation family, compound heterozygous mother of 3 affected children
-
-
United States
-
-
-
-
-
1
Gisela Nogales
+/.
5
c.613G>A
r.(?)
p.(Gly205Ser)
Unknown
-
pathogenic
g.64525298C>T
g.64757826C>T
-
-
PYGM_000003
-
-
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
-
-
F
?
Spain
-
-
-
-
-
1
Irene Vieitez
+/.
-
c.613G>A
r.(?)
p.(Gly205Ser)
Parent #1
-
pathogenic
g.64525298C>T
g.64757826C>T
-
-
PYGM_000003
2 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs119103251
Germline
-
2/2795 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
2
Mohammed Faruq
+?/.
5
c.614G>A
r.(?)
p.(Gly205Asp)
Parent #1
-
likely pathogenic
g.64525297C>T
g.64757825C>T
-
-
PYGM_000129
-
PubMed: abstract 21802952
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 21802952
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
+?/.
5
c.632del
r.(?)
p.(Ser211Thrfs*84)
Parent #1
-
likely pathogenic
g.64525279del
g.64757807del
-
-
PYGM_000142
-
PubMed: abstract 22608882
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: abstract 22608882
-
-
-
-
-
-
-
-
-
1
Gisela Nogales
-?/.
5
c.645G>A
r.645g>a
p.Lys215=
Parent #1
-
likely benign
g.64525266C>T
g.64757794C>T
-
-
PYGM_000018
RNA expression 0.05
PubMed: Garcia-Consuegra 2009
-
-
Unknown
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
GSD5
-
PubMed: Garcia-Consuegra 2009
-
-
-
Spain
-
-
-
-
-
1
Gisela Nogales
-?/.
5
c.645G>A
r.(?)
p.(Lys215=)
Parent #2
-
likely benign
g.64525266C>T
g.64757794C>T
K215K
-
PYGM_000018
-
PubMed: Garcia-Consuegra 2009
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
GSD5
-
PubMed: Garcia-Consuegra 2009
-
-
-
Spain
-
-
-
-
-
1
Gisela Nogales
?/.
-
c.645G>A
r.(?)
p.(Lys215=)
Unknown
-
VUS
g.64525266C>T
g.64757794C>T
PYGM(NM_001164716.1):c.381G>A (p.K127=), PYGM(NM_005609.4):c.645G>A (p.(Lys215=))
-
PYGM_000018
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.645G>A
r.(=)
p.(=)
Parent #1
-
VUS
g.64525266C>T
g.64757794C>T
-
-
PYGM_000018
conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs116315896
Germline
-
2/2795 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
2
Mohammed Faruq
-?/.
-
c.645G>A
r.(?)
p.(Lys215=)
Unknown
-
likely benign
g.64525266C>T
-
PYGM(NM_001164716.1):c.381G>A (p.K127=), PYGM(NM_005609.4):c.645G>A (p.(Lys215=))
-
PYGM_000018
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.645G>A
r.(?)
p.(Lys215=)
Unknown
-
benign
g.64525266C>T
-
PYGM(NM_001164716.1):c.381G>A (p.K127=), PYGM(NM_005609.4):c.645G>A (p.(Lys215=))
-
PYGM_000018
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.645G>A
r.(?)
p.(Lys215=)
Unknown
ACMG
VUS
g.64525266C>T
g.64757794C>T
-
-
PYGM_000018
ACMG BS1_mod, PS3_sup, PM3_sup
PubMed: Molaei 2025
SCV006075172
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
MYOP
Fam203867Pat569
PubMed: Molaei 2025
analysis 2009 neuromuscular disorder individuals; patient, no family history
M
no
Iran
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.660G>A
r.(?)
p.(Gln220=)
Unknown
-
VUS
g.64525251C>T
-
PYGM(NM_001164716.1):c.396G>A (p.Q132=, p.(=))
-
PYGM_000176
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.660G>A
r.(?)
p.(Gln220=)
Unknown
-
VUS
g.64525251C>T
-
PYGM(NM_001164716.1):c.396G>A (p.Q132=, p.(=))
-
PYGM_000176
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.660G>A
r.(?)
p.(Gln220=)
Unknown
-
VUS
g.64525251C>T
-
PYGM(NM_001164716.1):c.396G>A (p.Q132=, p.(=))
-
PYGM_000176
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.660G>A
r.[529_660del,425_660del]
p.[Met177_Gln220del,Ala142Glyfs*32]
Unknown
-
pathogenic (recessive)
g.64525251C>T
g.64757779C>T
-
-
PYGM_000176
-
PubMed: Bournazos 2022
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ, SEQ-NG-RNA
whole blood
duo WES
?
A085
PubMed: Bournazos 2022
family, 2 affected (F, M)
-
-
Australia
-
-
-
-
-
2
Johan den Dunnen
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