Global Variome shared LOVD
MICU1 (mitochondrial calcium uptake 1)
LOVD v.3.0 Build 30b [
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Curator:
Johan den Dunnen
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Full data view for gene MICU1
This database is one of the gene variant databases from the
"Leiden Muscular Dystrophy pages" (LMDp)
The variants shown are described using the NM_001195518.2 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
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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99 entries on 1 page. Showing entries 1 - 99.
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Legend
How to query
Effect
Exon
DNA change (cDNA)
RNA change
Protein
Allele
Classification method
Clinical classification
DNA change (genomic) (hg19)
DNA change (hg38)
Published as
ISCN
DB-ID
Variant remarks
Reference
ClinVar ID
dbSNP ID
Origin
Segregation
Frequency
Re-site
VIP
Methylation
Template
Technique
Tissue
Remarks
Disease
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Panel size
Owner
+/.
_1_1i
c.-2094_-2+683del
r.0?
p.0
Both (homozygous)
-
pathogenic (recessive)
g.74385085_74387860del
g.72625327_72628102del
del ex1
-
MICU1_000042
2755bp deletion
PubMed: Lewis-Smith 2016
,
Journal: Lewis-Smith 2016
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
?
Fam
PubMed: Lewis-Smith 2016
,
Journal: Lewis-Smith 2016
4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives
F;M
yes
United Kingdom (Great Britain)
-
-
-
-
-
4
Johan den Dunnen
+/.
1i_2i
c.(-2+1_-1-19)_(161+21_162-1)del
r.-1_161del
p.0?
Both (homozygous)
ACMG
pathogenic (recessive)
g.(74322822_74326370)_(74326571_74385767)del
g.(72563064_72566612)_(72566813_72626009)del
g. (?_74326370)_(74326571_?), del ex2
-
MICU1_000037
ACMG PVS1, PM2
PubMed: Sharova 2022
,
Journal: Sharova 2022
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ, SEQ-NG
-
WES
MYOP
patient
PubMed: Sharova 2022
,
Journal: Sharova 2022
2-generation family, 1 affected, unaffected parents
M
-
Russia
-
-
-
-
-
1
Johan den Dunnen
+/.
1i_2i
c.(-2+1_-1-1)_(161+1_162-1)del
r.(-1_161del)
p.0?
Paternal (confirmed)
-
pathogenic (recessive)
g.(74322822_74326390)_(74326553_74385767)del
g.(72563064_72566632)_(72566795_72626009)del
del ex2
-
MICU1_000040
-
PubMed: Kohlschmidt 2021
,
Journal: Kohlschmidt 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
MYOP
Pat2
PubMed: Kohlschmidt 2021
,
Journal: Kohlschmidt 2021
2-generation family, 1 affected, unaffected non-carrier parents
M
no
Germany
-
-
-
-
-
1
Johan den Dunnen
+?/.
8i_10i
c.(933+1_934-69_1180+129_1181-1)dup
r.?
p.?
Maternal (confirmed)
-
likely pathogenic (recessive)
g.(74135631_74167558)_(74183198_74234857)dup
g.(72375873_72407800)_(72423440_72475099)dup
-
(74167558_74183198)x3 mat, dup ex9-10
MICU1_000041
-
PubMed: Musa 2019
,
Journal: Musa 2019
-
-
Germline
-
-
-
-
-
DNA
arrayCGH, SEQ, SEQ-NG
-
cWES
NMD
Fam7
PubMed: Musa 2019
,
Journal: Musa 2019
2-generation family, 1 affected, unaffected heterozygous carrier parents
F
yes
-
Arab;Middle-east
-
-
-
-
1
Johan den Dunnen
+/.
2
c.1A>G
r.(?)
p.0?
Parent #2
-
pathogenic
g.74326551T>C
g.72566793T>C
-
-
MICU1_000014
-
PubMed: O'Grady 2016
-
rs747832014
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
MDC
Pat103
PubMed: O'Grady 2016
2-generation family, unaffected heterozygous carrier parents
M
-
Australia
-
>08y
-
-
-
1
Sandra Cooper
+/.
2
c.40del
r.(?)
p.(Ala14LeufsTer20)
Paternal (confirmed)
-
pathogenic (recessive)
g.74326513del
g.72566755del
-
-
MICU1_000044
-
PubMed: Cherot 2017
-
rs749124658
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
NDD
Pat22
PubMed: Cherot 2017
2-generation family, 1 affected, unaffected heterozygous carrier parents
M
-
France
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.52C>T
r.(?)
p.(Arg18Ter)
Maternal (confirmed)
-
likely pathogenic (recessive)
g.74326500G>A
g.72566742G>A
-
-
MICU1_000039
-
PubMed: Kohlschmidt 2021
,
Journal: Kohlschmidt 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
MYOP
Pat2
PubMed: Kohlschmidt 2021
,
Journal: Kohlschmidt 2021
2-generation family, 1 affected, unaffected non-carrier parents
M
no
Germany
-
-
-
-
-
1
Johan den Dunnen
?/.
2
c.53G>A
r.(?)
p.(Gln18Arg)
Parent #1
-
VUS
g.74326499C>T
g.72566741C>T
-
-
MICU1_000002
found once in 8309 European Americans, not in 3898 African Americans
Exome Variant Server
-
-
Unknown
-
1/12207 controls
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
2
c.77C>G
r.(?)
p.(Pro26Arg)
Parent #1
-
VUS
g.74326475G>C
g.72566717G>C
-
-
MICU1_000003
not in 3898 African Americans
Exome Variant Server
-
-
Unknown
-
2/12236 controls
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
2
c.83A>G
r.(?)
p.(Gln83Arg)
Parent #1
-
VUS
g.74326469T>C
g.72566711T>C
-
-
MICU1_000004
-
Exome Variant Server
-
-
Unknown
-
1/12225 controls
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
2
c.114C>G
r.(?)
p.(Phe38Leu)
Parent #1
-
VUS
g.74326438G>C
g.72566680G>C
-
-
MICU1_000005
-
Exome Variant Server
-
-
Unknown
-
1/12225 controls
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.119G>A
r.(?)
p.(Gly40Glu)
Unknown
-
VUS
g.74326433C>T
g.72566675C>T
MICU1(NM_001363513.1):c.119G>A (p.G40E)
-
MICU1_000025
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.143C>T
r.(?)
p.(Thr48Ile)
Unknown
-
likely benign
g.74326409G>A
g.72566651G>A
MICU1(NM_001195518.1):c.143C>T (p.(Thr48Ile))
-
MICU1_000021
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.156G>A
r.(?)
p.(Trp52Ter)
Paternal (confirmed)
ACMG
pathogenic (recessive)
g.74326396C>T
g.72566638C>T
-
-
MICU1_000046
ACMG PVS1,  PM2_Supporting, MP3
Journal: Li 2025
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
MYOP
Fam1PatII1
Journal: Li 2025
2-generation family, 2 affected brothers, unaffected heterozygous carrier parents
M
-
China
-
-
-
-
-
2
Johan den Dunnen
+/.
-
c.156G>A
r.(?)
p.(Trp52Ter)
Paternal (confirmed)
ACMG
pathogenic (recessive)
g.74326396C>T
g.72566638C>T
-
-
MICU1_000046
ACMG PVS1,  PM2_Supporting, MP3
Journal: Li 2025
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
MYOP
Fam1PatII2
Journal: Li 2025
brother
M
-
China
-
-
-
-
-
1
Johan den Dunnen
?/.
2
c.160A>G
r.(?)
p.(Arg54Gly)
Parent #1
-
VUS
g.74326392T>C
g.72566634T>C
-
-
MICU1_000006
-
Exome Variant Server
-
-
Unknown
-
1/12175 controls
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
2i
c.161+1G>A
r.spl
p.?
Parent #1
-
likely pathogenic
g.74326390C>T
g.72566632C>T
-
-
MICU1_000007
-
Exome Variant Server
-
rs375502236
Unknown
-
1/12179 controls
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.161+1G>A
r.spl
p.?
Maternal (confirmed)
-
pathogenic (recessive)
g.74326390C>T
g.72566632C>T
-
-
MICU1_000007
-
PubMed: Wilton 2020
,
Journal: Wilton 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
?
patient
PubMed: Wilton 2020
,
Journal: Wilton 2020
2-generation family, 1 affected, unaffected heterozygous carrier parents
F
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.161+1G>A
r.spl
p.?
Paternal (confirmed)
-
pathogenic (recessive)
g.74326390C>T
g.72566632C>T
-
-
MICU1_000007
-
PubMed: Saneto 2022
,
Journal: Saneto 2022
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
trio WES
?
family
PubMed: Saneto 2022
,
Journal: Saneto 2022
family, 2 affected brothers
M
-
United States
-
-
-
-
-
2
Johan den Dunnen
+/.
-
c.161+1G>A
r.spl
p.0?
Maternal (confirmed)
-
pathogenic (recessive)
g.74326390C>T
g.72566632C>T
-
-
MICU1_000007
-
PubMed: Klee 2021
,
Journal: Klee 2021
-
rs375502236
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
?
patient
PubMed: Klee 2021
,
Journal: Klee 2021
1/1101 undiagnosed cases
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.161+3G>A
r.spl?
p.?
Unknown
-
likely benign
g.74326388C>T
g.72566630C>T
MICU1(NM_006077.3):c.161+3G>A
-
MICU1_000018
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
3
c.211G>C
r.(?)
p.(Gly71Arg)
Parent #1
-
VUS
g.74322772C>G
g.72563014C>G
-
-
MICU1_000008
-
Exome Variant Server
-
-
Unknown
-
1/11925 controls
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.235G>T
r.(?)
p.(Glu79Ter)
Maternal (confirmed)
ACMG
likely pathogenic (recessive)
g.74322748C>A
g.72562990C>A
-
-
MICU1_000047
ACMG PVS1,  PM2_Supporting
Journal: Li 2025
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
MYOP
Fam1PatII1
Journal: Li 2025
2-generation family, 2 affected brothers, unaffected heterozygous carrier parents
M
-
China
-
-
-
-
-
2
Johan den Dunnen
+?/.
-
c.235G>T
r.(?)
p.(Glu79Ter)
Maternal (confirmed)
ACMG
likely pathogenic (recessive)
g.74322748C>A
g.72562990C>A
-
-
MICU1_000047
ACMG PVS1,  PM2_Supporting
Journal: Li 2025
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
MYOP
Fam1PatII2
Journal: Li 2025
brother
M
-
China
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.307C>T
r.(?)
p.(Arg103Cys)
Unknown
-
likely benign
g.74322676G>A
g.72562918G>A
MICU1(NM_001195518.1):c.307C>T (p.(Arg103Cys))
-
MICU1_000016
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
3i_8i
c.(330+1_331-1)_(933+1_934-1)del
r.?
p.?
Maternal (confirmed)
ACMG
likely pathogenic (recessive)
g.(74183130_74234857)_(74311100_74322652)del
g.(72423372_72475099)_(72551342_72562894)del
-
-
MICU1_000049
ACMG PVS1,  PM2_Supporting
Journal: Li 2025
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
MYOP
Fam2PatII1
Journal: Li 2025
2-generation family, 2 affected sisters, unaffected heterozygous carrier parents
F
-
China
-
-
-
-
-
2
Johan den Dunnen
+?/.
3i_8i
c.(330+1_331-1)_(933+1_934-1)del
r.?
p.?
Maternal (confirmed)
ACMG
likely pathogenic (recessive)
g.(74183130_74234857)_(74311100_74322652)del
g.(72423372_72475099)_(72551342_72562894)del
-
-
MICU1_000049
ACMG PVS1,  PM2_Supporting
Journal: Li 2025
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
MYOP
Fam2PatII2
Journal: Li 2025
sister
F
-
China
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.355C>G
r.(?)
p.(Arg119Gly)
Unknown
-
VUS
g.74311075G>C
g.72551317G>C
MICU1(NM_001195518.1):c.355C>G (p.(Arg119Gly))
-
MICU1_000027
VKGL data sharing initiative Nederland
-
-
rs538329212
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.355C>T
r.(?)
p.(Arg119Ter)
Both (homozygous)
-
pathogenic (recessive)
g.74311075G>A
g.72551317G>A
-
-
MICU1_000045
-
PubMed: Beheshti 2025
,
Journal: Beheshti 2025
-
rs538329212
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NMD
Fam1PatIV1
PubMed: Beheshti 2025
,
Journal: Beheshti 2025
4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives
F
yes
Iran
-
-
-
-
-
1
Johan den Dunnen
+?/.
4
c.385C>T
r.(?)
p.(Arg129*)
Parent #1
-
likely pathogenic
g.74311045G>A
g.72551287G>A
-
-
MICU1_000009
-
Exome Variant Server
-
rs369069489
Unknown
-
1/11961 controls
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.385C>T
r.(?)
p.(Arg129Ter)
Both (homozygous)
ACMG
pathogenic (recessive)
g.74311045G>A
g.72551287G>A
-
-
MICU1_000009
ACMG PVS1, PM3, PS4, PM2, PP3
PubMed: Bitarafan 2021
,
Journal: Bitarafan 2021
-
rs369069489
Germline
yes
-
-
-
-
DNA
SEQ
-
-
MYOP
family
PubMed: Bitarafan 2021
,
Journal: Bitarafan 2021
6-generation family, 3 affected brothers, unaffected heterozygous carrier parents/relatives
M
yes
Iran
-
-
-
-
-
3
Johan den Dunnen
+/.
4
c.386G>C
r.(?)
p.(Arg129Pro)
Parent #1
-
pathogenic
g.74311044C>G
g.72551286C>G
-
-
MICU1_000013
-
PubMed: O'Grady 2016
-
rs375664373
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
MDC
Pat103
PubMed: O'Grady 2016
2-generation family, unaffected heterozygous carrier parents
M
-
Australia
-
>08y
-
-
-
1
Sandra Cooper
+?/.
-
c.386G>C
r.(?)
p.(Arg129Pro)
Paternal (confirmed)
-
likely pathogenic (recessive)
g.74311044C>G
g.72551286C>G
-
-
MICU1_000013
-
PubMed: Wilton 2020
,
Journal: Wilton 2020
-
rs375664373
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
?
patient
PubMed: Wilton 2020
,
Journal: Wilton 2020
2-generation family, 1 affected, unaffected heterozygous carrier parents
F
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.386G>C
r.(?)
p.(Arg129Pro)
Maternal (confirmed)
-
pathogenic (recessive)
g.74311044C>G
g.72551286C>G
-
-
MICU1_000013
-
PubMed: Saneto 2022
,
Journal: Saneto 2022
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
trio WES
?
family
PubMed: Saneto 2022
,
Journal: Saneto 2022
family, 2 affected brothers
M
-
United States
-
-
-
-
-
2
Johan den Dunnen
+/.
-
c.386G>C
r.(?)
p.(Arg129Pro)
Paternal (confirmed)
-
pathogenic (recessive)
g.74311044C>G
g.72551286C>G
-
-
MICU1_000013
-
PubMed: Klee 2021
,
Journal: Klee 2021
-
rs375664373
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
?
patient
PubMed: Klee 2021
,
Journal: Klee 2021
1/1101 undiagnosed cases
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+?/.
4i
c.493+1G>A
r.spl
p.?
Parent #1
-
likely pathogenic
g.74310936C>T
g.72551178C>T
-
-
MICU1_000011
-
Exome Variant Server
-
rs375775506
Unknown
-
2/11780 controls
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
4i
c.493+1G>A
r.(331_493del)
p.(Val111ThrfsTer7)
Both (homozygous)
-
pathogenic (recessive)
g.74310936C>T
g.72551178C>T
-
-
MICU1_000011
-
PubMed: Beheshti 2025
,
Journal: Beheshti 2025
-
rs375775506
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NMD
Fam2PatV2
PubMed: Beheshti 2025
,
Journal: Beheshti 2025
5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives
M
yes
Iran
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.508C>T
r.(?)
p.(Gln170Ter)
Both (homozygous)
-
likely pathogenic (recessive)
g.74293533G>A
g.72533775G>A
-
-
MICU1_000035
-
PubMed: Beheshti 2025
,
Journal: Beheshti 2025
-
rs779752327
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NMD
Fam3PatIV1
PubMed: Beheshti 2025
,
Journal: Beheshti 2025
4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives
F
yes
Iran
-
-
-
-
-
1
Johan den Dunnen
+?/.
5
c.513T>A
r.(?)
p.(Tyr171Ter)
Unknown
ACMG
pathogenic
g.74293528A>T
g.72533770A>T
-
-
MICU1_000028
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
MPXPS
-
-
-
M
no
India
-
-
-
-
-
1
Gautham Arunachal
-?/.
-
c.537+9898A>G
r.(?)
p.(=)
Unknown
-
likely benign
g.74283606T>C
g.72523848T>C
MICU1(NM_001195519.1):c.12A>G (p.I4M)
-
MICU1_000020
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.547C>T
r.(?)
p.(Gln183Ter)
Both (homozygous)
ACMG
pathogenic (recessive)
g.74268018G>A
g.72508260G>A
-
-
MICU1_000022
ACMG PVS1,PM2,PP1
PubMed: Anazi 2017
-
rs777327250
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
clinical WES
ID
15DG0299
PubMed: Anazi 2017
familial
M
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.547C>T
r.(?)
p.(Gln183Ter)
Both (homozygous)
-
pathogenic (recessive)
g.74268018G>A
g.72508260G>A
-
-
MICU1_000022
-
PubMed: Beheshti 2025
,
Journal: Beheshti 2025
-
rs777327250
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NMD
Fam5PatV3/4
PubMed: Beheshti 2025
,
Journal: Beheshti 2025
5-generation family, 2 affected twin brothers, unaffected heterozygous carrier parents/relatives
M
yes
Iran
Arab
-
-
-
-
2
Johan den Dunnen
+/.
-
c.547C>T
r.(?)
p.(Gln183Ter)
Both (homozygous)
-
pathogenic (recessive)
g.74268018G>A
g.72508260G>A
-
-
MICU1_000022
-
PubMed: Alfares 2017
,
Journal: Alfares 2017
-
rs777327250
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
MYOP
Pat84
PubMed: Alfares 2017
,
Journal: Alfares 2017
-
-
-
Saudi Arabia
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.547C>T
r.(?)
p.(Gln183Ter)
Both (homozygous)
-
pathogenic (recessive)
g.74268018G>A
g.72508260G>A
-
-
MICU1_000022
-
PubMed: Alkelai 2023
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
SCZD
patient
PubMed: Alkelai 2023
-
-
-
Israel
jew
-
-
-
-
1
Johan den Dunnen
+/.
-
c.553C>T
r.(?)
p.(Arg185Ter)
Both (homozygous)
-
pathogenic (recessive)
g.74268012G>A
g.72508254G>A
-
-
MICU1_000038
-
PubMed: Beheshti 2025
,
Journal: Beheshti 2025
-
rs755651388
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NMD
Fam6PatIII1
PubMed: Beheshti 2025
,
Journal: Beheshti 2025
3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives
F
yes
Turkey
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.553C>T
r.(?)
p.(Arg185Ter)
Both (homozygous)
-
pathogenic (recessive)
g.74268012G>A
g.72508254G>A
-
-
MICU1_000038
-
PubMed: Finsterer 2024
,
Journal: Finsterer 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MYOP
patient
PubMed: Finsterer 2024
,
Journal: Finsterer 2024
2-generation family, 1 affected, unaffected heterozygous carrier parentsmyop
F
yes
Austria
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.553C>T
r.(?)
p.(Arg185Ter)
Both (homozygous)
-
pathogenic (recessive)
g.74268012G>A
g.72508254G>A
-
-
MICU1_000038
-
PubMed: Kohlschmidt 2021
,
Journal: Kohlschmidt 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
MYOP
Pat1
PubMed: Kohlschmidt 2021
,
Journal: Kohlschmidt 2021
3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives
F
yes
Turkey
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.553C>T
r.(?)
p.(Arg185Ter)
Both (homozygous)
-
pathogenic (recessive)
g.74268012G>A
g.72508254G>A
Q185*
-
MICU1_000038
-
PubMed: Musa 2019
,
Journal: Musa 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
cWES
NMD
Fam1
PubMed: Musa 2019
,
Journal: Musa 2019
2-generation family, 1 affected, unaffected heterozygous carrier parents
M
yes
-
Arab;Middle-east
-
-
-
-
1
Johan den Dunnen
+/.
-
c.553C>T
r.(?)
p.(Arg185Ter)
Both (homozygous)
-
pathogenic (recessive)
g.74268012G>A
g.72508254G>A
Q185*
-
MICU1_000038
-
PubMed: Musa 2019
,
Journal: Musa 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
cWES
NMD
Fam2
PubMed: Musa 2019
,
Journal: Musa 2019
2-generation family, 1 affected, unaffected parents
F
no
Qatar
Arab;Middle-east
-
-
-
-
1
Johan den Dunnen
+/.
-
c.553C>T
r.(?)
p.(Arg185Ter)
Both (homozygous)
-
pathogenic (recessive)
g.74268012G>A
g.72508254G>A
Q185*
-
MICU1_000038
-
PubMed: Musa 2019
,
Journal: Musa 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
cWES
NMD
Fam3
PubMed: Musa 2019
,
Journal: Musa 2019
2-generation family, 1 affected, unaffected heterozygous carrier parents
F
yes
-
Arab;Middle-east
-
-
-
-
1
Johan den Dunnen
+/.
-
c.553C>T
r.(?)
p.(Arg185Ter)
Both (homozygous)
-
pathogenic (recessive)
g.74268012G>A
g.72508254G>A
Q185*
-
MICU1_000038
-
PubMed: Musa 2019
,
Journal: Musa 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
cWES
NMD
Fam4
PubMed: Musa 2019
,
Journal: Musa 2019
2-generation family, 1 affected, unaffected heterozygous carrier parents
F
yes
-
Arab;Middle-east
-
-
-
-
1
Johan den Dunnen
+/.
-
c.553C>T
r.(?)
p.(Arg185Ter)
Both (homozygous)
-
pathogenic (recessive)
g.74268012G>A
g.72508254G>A
Q185*
-
MICU1_000038
-
PubMed: Musa 2019
,
Journal: Musa 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
cWES
NMD
Fam5
PubMed: Musa 2019
,
Journal: Musa 2019
2-generation family, 3 affected brothers, unaffected heterozygous carrier parents
M
yes
-
Arab;Middle-east
-
-
-
-
3
Johan den Dunnen
+/.
-
c.553C>T
r.(?)
p.(Arg185Ter)
Both (homozygous)
-
pathogenic (recessive)
g.74268012G>A
g.72508254G>A
Q185*
-
MICU1_000038
-
PubMed: Musa 2019
,
Journal: Musa 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
cWES
NMD
Fam6
PubMed: Musa 2019
,
Journal: Musa 2019
2-generation family, 1 affected, unaffected parents
F
no
-
Arab;Middle-east
-
-
-
-
1
Johan den Dunnen
+/.
-
c.553C>T
r.(?)
p.(Arg185Ter)
Paternal (confirmed)
-
pathogenic (recessive)
g.74268012G>A
g.72508254G>A
Q185*
-
MICU1_000038
-
PubMed: Musa 2019
,
Journal: Musa 2019
-
-
Germline
-
-
-
-
-
DNA
arrayCGH, SEQ, SEQ-NG
-
cWES
NMD
Fam7
PubMed: Musa 2019
,
Journal: Musa 2019
2-generation family, 1 affected, unaffected heterozygous carrier parents
F
yes
-
Arab;Middle-east
-
-
-
-
1
Johan den Dunnen
+/.
-
c.553C>T
r.(?)
p.(Arg185Ter)
Both (homozygous)
-
pathogenic (recessive)
g.74268012G>A
g.72508254G>A
Q185*
-
MICU1_000038
-
PubMed: Musa 2019
,
Journal: Musa 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
cWES
NMD
Fam8
PubMed: Musa 2019
,
Journal: Musa 2019
2-generation family, 2 affected brothers/1 sister, unaffected heterozygous carrier parents
M
yes
-
Arab;Middle-east
-
-
-
-
3
Johan den Dunnen
+/.
-
c.553C>T
r.(?)
p.(Arg185Ter)
Both (homozygous)
-
pathogenic (recessive)
g.74268012G>A
g.72508254G>A
Q185*
-
MICU1_000038
-
PubMed: Musa 2019
,
Journal: Musa 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
cWES
NMD
Fam9
PubMed: Musa 2019
,
Journal: Musa 2019
2-generation family, 1 affected, unaffected heterozygous carrier parents
M
yes
-
Arab;Middle-east
-
-
-
-
1
Johan den Dunnen
+/.
-
c.553C>T
r.(?)
p.(Arg185Ter)
Both (homozygous)
-
pathogenic (recessive)
g.74268012G>A
g.72508254G>A
Q185*
-
MICU1_000038
-
PubMed: Musa 2019
,
Journal: Musa 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
cWES
NMD
Fam10
PubMed: Musa 2019
,
Journal: Musa 2019
2-generation family, 1 affected, unaffected heterozygous carrier parents
M
yes
-
Arab;Middle-east
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.559A>G
r.(?)
p.(Lys187Glu)
Unknown
-
likely benign
g.74268006T>C
g.72508248T>C
MICU1(NM_006077.3):c.565A>G (p.K189E)
-
MICU1_000017
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.608_609dup
r.(?)
p.(Ile204SerfsTer30)
Unknown
-
pathogenic
g.74267957_74267958dup
g.72508199_72508200dup
MICU1(NM_006077.4):c.614_615dupTC (p.I206Sfs*30)
-
MICU1_000019
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
7
c.638_639del
r.spl
p.(Thr213AsnfsTer11)
Parent #1
-
likely pathogenic
g.74267928_74267929del
g.72508170_72508171del
NM_006077.3:c.644_645del
-
MICU1_000010
found 19x in European Americans, 13x in African Americans
Exome Variant Server
-
-
Unknown
-
32/11324 controls
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
8i
c.735+1G>A
r.spl
p.?
Both (homozygous)
-
likely pathogenic
g.74236931C>T
g.72477173C>T
NM_006077.3:c.741+1G>A
-
MICU1_000001
gene implicated in limb-girdle muscular dystrophy (LGMD)
-
-
rs369915689
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG-I
-
-
LGMD2
-
-
-
-
-
Netherlands
-
-
1
-
-
1
Johan den Dunnen
?/.
8i
c.735+1G>A
r.spl?
p.?
Parent #1
-
VUS
g.74236931C>T
g.72477173C>T
NM_006077.3:c.741+1G>A
-
MICU1_000001
found once in 7119 European Americans, not in 3114 African Americans
Exome Variant Server
-
rs369915689
Unknown
-
1/10233 controls
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
8i
c.735+1G>A
r.spl
p.?
Both (homozygous)
-
likely pathogenic
g.74236931C>T
g.72477173C>T
NM_006077.3:c.741+1G>A
-
MICU1_000001
exome sequencing; initially reported as LOVD VIP with contact request to jointly proof definite disease association
PubMed: Logan 2014
,
OMIM:var0002
-
rs369915689
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG-I
-
-
MPXPS
-
PubMed: Logan 2014
9-generation family, 2 affecteds (2F), unaffected heterozygous carrier parents, sister-1
F
yes
Netherlands
-
>23y
-
-
-
2
Marjolein Kriek
+?/.
8i
c.735+1G>A
r.spl
p.?
Both (homozygous)
-
likely pathogenic
g.74236931C>T
g.72477173C>T
NM_006077.3:c.741+1G>A
-
MICU1_000001
initially reported as LOVD VIP with contact request to jointly proof definite disease association
PubMed: Logan 2014
,
OMIM:var0002
-
rs369915689
Germline
yes
-
-
-
-
DNA
SEQ
-
-
MPXPS
-
PubMed: Logan 2014
9-generation family, sister-2
F
yes
Netherlands
-
>7y
-
-
-
1
Marjolein Kriek
+/.
8i
c.735+1G>A
r.735_736ins[A;735+2_735+155]
p.Val246ThrfsTer9
Both (homozygous)
-
pathogenic
g.74236931C>T
g.72477173C>T
NM_006077.3:c.741+1G>A
-
MICU1_000001
whole exome sequencing; fibroblast RNA; initially reported as LOVD VIP with contact request to jointly proof definite disease association
PubMed: Logan 2014
,
OMIM:var0002
-
rs369915689
Germline
yes
-
-
-
-
DNA, RNA
RT-PCR, SEQ, SEQ-NG-I
-
-
MPXPS
-
PubMed: Logan 2014
3-generation family, brother-1
M
no
Netherlands
-
>8y
-
-
-
2
Marjolein Kriek
+?/.
8i
c.735+1G>A
r.spl
p.?
Both (homozygous)
-
likely pathogenic
g.74236931C>T
g.72477173C>T
NM_006077.3:c.741+1G>A
-
MICU1_000001
initially reported as LOVD VIP with contact request to jointly proof definite disease association
PubMed: Logan 2014
,
OMIM:var0002
-
rs369915689
Germline
yes
-
-
-
-
DNA
SEQ
-
-
MPXPS
-
PubMed: Logan 2014
3-generation family, brother-2
M
no
Netherlands
-
>3y1m
-
-
-
1
Marjolein Kriek
+/.
8i
c.735+1G>A
r.spl
p.?
Unknown
-
pathogenic
g.74236931C>T
g.72477173C>T
MICU1(NM_001195518.1):c.735+1G>A (p.?), MICU1(NM_006077.3):c.741+1G>A, MICU1(NM_006077.4):c.741+1G>A
-
MICU1_000001
VKGL data sharing initiative Nederland
-
-
rs369915689
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
8i
c.735+1G>A
r.spl
p.?
Unknown
-
likely pathogenic
g.74236931C>T
g.72477173C>T
MICU1(NM_001195518.1):c.735+1G>A (p.?), MICU1(NM_006077.3):c.741+1G>A, MICU1(NM_006077.4):c.741+1G>A
-
MICU1_000001
VKGL data sharing initiative Nederland
-
-
rs369915689
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
8i
c.735+1G>A
r.spl
p.?
Unknown
-
pathogenic
g.74236931C>T
g.72477173C>T
MICU1(NM_001195518.1):c.735+1G>A (p.?), MICU1(NM_006077.3):c.741+1G>A, MICU1(NM_006077.4):c.741+1G>A
-
MICU1_000001
VKGL data sharing initiative Nederland
-
-
rs369915689
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
8i
c.735+1G>A
r.spl
p.?
Unknown
-
pathogenic
g.74236931C>T
g.72477173C>T
MICU1(NM_001195518.1):c.735+1G>A (p.?), MICU1(NM_006077.3):c.741+1G>A, MICU1(NM_006077.4):c.741+1G>A
-
MICU1_000001
VKGL data sharing initiative Nederland
-
-
rs369915689
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
8i
c.735+1G>A
r.spl
p.?
Both (homozygous)
ACMG
pathogenic (recessive)
g.74236931C>T
g.72477173C>T
-
-
MICU1_000026
ACMG PVS1, PS4_MOD, PM2_SUP, PM3_SUP
PMID:24336167
VCV000101046.9
rs369915689
Germline
?
-
-
-
-
DNA
SEQ-NG-I
-
-
MPXPS
198231
-
-
M
?
Germany
-
-
-
-
-
1
Andreas Laner
+/.
8i
c.735+1G>A
r.spl
p.?
Both (homozygous)
-
pathogenic (recessive)
g.74236931C>T
g.72477173C>T
NM_006077.3:c.741 + 1G>A
-
MICU1_000001
-
PubMed: Ten Dam 2021
,
Journal: Ten Dam 2021
-
rs369915689
Germline
yes
-
-
-
-
DNA
SEQ
-
-
LGMD
Pat12/13
PubMed: Ten Dam 2021
,
Journal: Ten Dam 2021
2-generation family, 2 affected, unaffected heterozygous carrier parents
F
-
Netherlands
-
-
-
-
-
2
Johan den Dunnen
+?/.
8i
c.736-1G>A
r.spl
p.?
Unknown
-
likely pathogenic
g.74235056C>T
g.72475298C>T
MICU1(NM_001195518.2):c.736-1G>A
-
MICU1_000033
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.885C>T
r.(?)
p.(Asn295=)
Unknown
-
likely benign
g.74234906G>A
g.72475148G>A
MICU1(NM_006077.3):c.891C>T (p.N297=)
-
MICU1_000015
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.931G>T
r.(?)
p.(Glu311Ter)
Unknown
-
pathogenic
g.74234860C>A
g.72475102C>A
-
-
MICU1_000024
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.981T>G
r.(?)
p.(Phe327Leu)
Unknown
-
VUS
g.74183082A>C
g.72423324A>C
MICU1(NM_001195518.2):c.981T>G (p.(Phe327Leu))
-
MICU1_000031
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.1042C>T
r.(?)
p.(Gln348Ter)
Maternal (confirmed)
-
pathogenic (recessive)
g.74183021G>A
g.72423263G>A
NM_006077.3:c.1048C>T
-
MICU1_000043
-
PubMed: Cherot 2017
-
rs1135401814
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
NDD
Pat22
PubMed: Cherot 2017
2-generation family, 1 affected, unaffected heterozygous carrier parents
M
-
France
-
-
-
-
-
1
Johan den Dunnen
+/.
10i
c.1072-1G>C
r.spl
p.?
Both (homozygous)
-
pathogenic
g.74167796C>G
g.72408038C>G
NM_006077.3:c.1078-1G>C
-
MICU1_000012
homozygosity mapping, exome sequencing
PubMed: Logan 2014
,
OMIM:var0001
-
rs754639936
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG-I
-
-
MPXPS
-
PubMed: Logan 2014
5-generation family, 5 affecteds, unaffected heterozygous carrier parents, patient 2a
M
yes
United Kingdom (Great Britain)
Pakistani
>5y
-
-
-
5
Johan den Dunnen
+/.
10i
c.1072-1G>C
r.spl
p.?
Both (homozygous)
-
pathogenic
g.74167796C>G
g.72408038C>G
NM_006077.3:c.1078-1G>C
-
MICU1_000012
homozygosity mapping
PubMed: Logan 2014
,
OMIM:var0001
-
rs754639936
Germline
yes
-
-
-
-
DNA
SEQ
-
-
MPXPS
-
PubMed: Logan 2014
5-generation family, patient 2b
F
yes
United Kingdom (Great Britain)
Pakistani
>22m
-
-
-
1
Johan den Dunnen
+/.
10i
c.1072-1G>C
r.spl
p.?
Both (homozygous)
-
pathogenic
g.74167796C>G
g.72408038C>G
NM_006077.3:c.1078-1G>C
-
MICU1_000012
homozygosity mapping
PubMed: Logan 2014
,
OMIM:var0001
-
rs754639936
Germline
yes
-
-
-
-
DNA
SEQ
-
-
MPXPS
-
PubMed: Logan 2014
5-generation family, 5 affecteds, unaffected heterozygous carrier parents, patient 3a
M
yes
United Kingdom (Great Britain)
Pakistani
>5y10m
-
-
-
5
Johan den Dunnen
+/.
10i
c.1072-1G>C
r.spl
p.?
Both (homozygous)
-
pathogenic
g.74167796C>G
g.72408038C>G
NM_006077.3:c.1078-1G>C
-
MICU1_000012
homozygosity mapping
PubMed: Logan 2014
,
OMIM:var0001
-
rs754639936
Germline
yes
-
-
-
-
DNA
SEQ
-
-
MPXPS
-
PubMed: Logan 2014
5-generation family, patient 3b
F
yes
United Kingdom (Great Britain)
Pakistani
>3y2m
-
-
-
1
Johan den Dunnen
+/.
10i
c.1072-1G>C
r.spl
p.?
Both (homozygous)
-
pathogenic
g.74167796C>G
g.72408038C>G
NM_006077.3:c.1078-1G>C
-
MICU1_000012
homozygosity mapping
PubMed: Logan 2014
,
OMIM:var0001
-
rs754639936
Germline
yes
-
-
-
-
DNA
SEQ
-
-
MPXPS
-
PubMed: Logan 2014
5-generation family, 1 affected, unaffected heterozygous carrier parents
F
yes
United Kingdom (Great Britain)
Pakistani
>10y8m
-
-
-
1
Johan den Dunnen
+/.
10i
c.1072-1G>C
r.spl
p.?
Both (homozygous)
-
pathogenic
g.74167796C>G
g.72408038C>G
NM_006077.3:c.1078-1G>C
-
MICU1_000012
-
PubMed: Logan 2014
,
OMIM:var0001
-
rs754639936
Germline
yes
-
-
-
-
DNA
SEQ
-
-
MPXPS
-
PubMed: Logan 2014
4-generation family, 2 affecteds, unaffected heterozygous carrier parents, atient 5
M
yes
United Kingdom (Great Britain)
Pakistani
>13y7m
-
-
-
2
Johan den Dunnen
+/.
10i
c.1072-1G>C
r.1071_1072ins[1072-34_1072-2;C]
p.Gly358ValfsTer28
Both (homozygous)
-
pathogenic
g.74167796C>G
g.72408038C>G
NM_006077.3:c.1078-1G>C
-
MICU1_000012
-
PubMed: Logan 2014
,
OMIM:var0001
-
rs754639936
Germline
yes
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
MPXPS
-
PubMed: Logan 2014
4-generation family, patient 6
F
yes
United Kingdom (Great Britain)
Pakistani
>10y8m
-
-
-
1
Johan den Dunnen
+/.
10i
c.1072-1G>C
r.spl
p.?
Both (homozygous)
-
pathogenic
g.74167796C>G
g.72408038C>G
NM_006077.3:c.1078-1G>C
-
MICU1_000012
-
PubMed: Logan 2014
,
OMIM:var0001
-
rs754639936
Germline
yes
-
-
-
-
DNA
SEQ
-
-
MPXPS
-
PubMed: Logan 2014
unaffected heterozygous carrier parents
F
no
United Kingdom (Great Britain)
Pakistani
>6y
-
-
-
1
Johan den Dunnen
+/.
10i
c.1072-1G>C
r.spl
p.?
Both (homozygous)
-
pathogenic
g.74167796C>G
g.72408038C>G
NM_006077.3:c.1078-1G>C
-
MICU1_000012
exome sequencing
PubMed: Logan 2014
,
OMIM:var0001
-
rs754639936
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG-I
-
-
MPXPS
-
PubMed: Logan 2014
2-generation family, 2 affecteds, unaffected heterozygous carrier parents,patient 8a
F
no
United Kingdom (Great Britain)
Pakistani
>27y
-
-
-
2
Johan den Dunnen
+/.
10i
c.1072-1G>C
r.spl
p.?
Both (homozygous)
-
pathogenic
g.74167796C>G
g.72408038C>G
NM_006077.3:c.1078-1G>C
-
MICU1_000012
exome sequencing
PubMed: Logan 2014
,
OMIM:var0001
-
rs754639936
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG-I
-
-
MPXPS
-
PubMed: Logan 2014
2-generation family, patient 8b
F
no
United Kingdom (Great Britain)
Pakistani
>17y
-
-
-
1
Johan den Dunnen
+/.
10i
c.1072-1G>C
r.spl
p.?
Both (homozygous)
-
pathogenic
g.74167796C>G
g.72408038C>G
NM_006077.3:c.1078-1G>C
-
MICU1_000012
-
PubMed: Logan 2014
,
OMIM:var0001
-
rs754639936
Germline
yes
-
-
-
-
DNA
SEQ
-
-
MPXPS
-
PubMed: Logan 2014
unaffected heterozygous carrier parents
M
no
United Kingdom (Great Britain)
Pakistani
>13y7m
-
-
-
1
Johan den Dunnen
+?/.
10i
c.1072-1G>C
r.spl
p.?
Unknown
ACMG
pathogenic
g.74167796C>G
g.72408038C>G
-
-
MICU1_000012
-
-
-
rs754639936
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
MPXPS
-
-
-
M
no
India
-
-
-
-
-
1
Gautham Arunachal
+/.
-
c.1072-1G>C
r.spl
p.?
Both (homozygous)
-
pathogenic (recessive)
g.74167796C>G
g.72408038C>G
NM_006077:c.1078-1G>C
-
MICU1_000012
-
PubMed: Fevga 2022
,
Journal: Fevga 2022
-
rs754639936
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
DYT
family
PubMed: Fevga 2022
,
Journal: Fevga 2022
2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives
M
yes
India
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.1072-1G>C
r.spl
p.?
Both (homozygous)
-
pathogenic (recessive)
g.74167796C>G
g.72408038C>G
-
-
MICU1_000012
-
PubMed: Mukherjee 2023
,
PubMed: Mukherjee 2023
-
rs754639936
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
MYOP
patient
PubMed: Mukherjee 2023
,
PubMed: Mukherjee 2023
2-generation family, 1 affected, unaffected parents
M
-
India
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.1226C>G
r.(?)
p.(Ser409Ter)
Both (homozygous)
-
likely pathogenic (recessive)
g.74135585G>C
g.72375827G>C
-
-
MICU1_000034
-
PubMed: Beheshti 2025
,
Journal: Beheshti 2025
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NMD
Fam4PatII5
PubMed: Beheshti 2025
,
Journal: Beheshti 2025
3-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives
F
yes
Turkey
-
-
-
-
-
2
Johan den Dunnen
-?/.
-
c.1270+9G>A
r.(?)
p.(=)
Unknown
-
likely benign
g.74135532C>T
g.72375774C>T
MICU1(NM_001195518.2):c.1270+9G>A
-
MICU1_000032
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.1289del
r.(1289del)
p.(Asn430IlefsTer8)
Both (homozygous)
ACMG
pathogenic (recessive)
g.74128096del
g.72368338del
NM_006077.3:1295delA
-
MICU1_000036
ACMG PVS1, PM2, PM4, PP3, PP4
PubMed: Mojbafan 2020
,
Journal: Mojbafan 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
WES
hCK
FamPatV1
PubMed: Mojbafan 2020
,
Journal: Mojbafan 2020
5-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives
F
yes
Iran
-
-
-
-
-
2
Johan den Dunnen
+/.
-
c.1289del
r.(1289del)
p.(Asn430IlefsTer8)
Both (homozygous)
-
pathogenic (recessive)
g.74128096del
g.72368338del
-
-
MICU1_000036
-
PubMed: Mojbafan 2020
,
Journal: Mojbafan 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
hCK
FamPatV2
PubMed: Mojbafan 2020
,
Journal: Mojbafan 2020
younger sister
F
yes
Iran
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.1312A>T
r.(?)
p.(Lys438Ter)
Unknown
-
likely pathogenic
g.74128072T>A
g.72368314T>A
-
-
MICU1_000023
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.1319G>A
r.(?)
p.(Arg440Gln)
Unknown
-
VUS
g.74128065C>T
g.72368307C>T
MICU1(NM_001195518.2):c.1319G>A (p.(Arg440Gln))
-
MICU1_000030
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.1372C>T
r.(?)
p.(Gln458Ter)
Paternal (confirmed)
ACMG
VUS
g.74128012G>A
g.72368254G>A
-
-
MICU1_000048
ACMG PVS1_Moderate, PM2_Supporting, MP3
Journal: Li 2025
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
MYOP
Fam2PatII1
Journal: Li 2025
2-generation family, 2 affected sisters, unaffected heterozygous carrier parents
F
-
China
-
-
-
-
-
2
Johan den Dunnen
+/.
-
c.1372C>T
r.(?)
p.(Gln458Ter)
Paternal (confirmed)
ACMG
VUS
g.74128012G>A
g.72368254G>A
-
-
MICU1_000048
ACMG PVS1_Moderate, PM2_Supporting, MP3
Journal: Li 2025
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
MYOP
Fam2PatII2
Journal: Li 2025
sister
F
-
China
-
-
-
-
-
1
Johan den Dunnen
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