Global Variome shared LOVD
FHL1 (four and a half LIM domains 1)
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Curator:
Johan den Dunnen
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This database is one of the gene variant databases from the
Leiden Muscular Dystrophy pages
The variants shown are described using the NM_001159702.2 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
association
unclassified
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = singele molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-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
Arg
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space
Text
Arg Ser
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|
Text
Arg|Ser
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!
Text
!fs
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^
Text
^p.(Arg
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$
Text
Ser)$
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=""
Text
=""
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=""
Text
="p.0"
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!=""
Text
!=""
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!=""
Text
!="p.0"
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combination
Text
*|Ter !fs
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Date
2020
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|
Date
2020-03|2020-04
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!
Date
!2020-03
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<
Date
<2020
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<=
Date
<=2020-06
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>
Date
>2020-06
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>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
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
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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190 entries on 2 pages. Showing entries 1 - 100.
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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
-?/.
1i
c.-100-378dup
r.(=)
p.(=)
Maternal (inferred)
-
likely benign
g.135251688dup
g.136169529dup
-
-
FHL1_000026
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
-?/.
1i
c.-100-378dup
r.(=)
p.(=)
Maternal (inferred)
-
likely benign
g.135251688dup
g.136169529dup
-
-
FHL1_000028
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
-?/.
1i
c.-100-378dup
r.(=)
p.(=)
Maternal (inferred)
-
likely benign
g.135251688dup
g.136169529dup
-
-
FHL1_000026
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
-?/.
1i
c.-100-378dup
r.(=)
p.(=)
Maternal (inferred)
-
likely benign
g.135251688dup
g.136169529dup
-
-
FHL1_000028
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
-?/.
2i
c.-27+95del
r.(=)
p.(=)
Maternal (inferred)
-
likely benign
g.135252234del
g.136170075del
-
-
FHL1_000029
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
-?/.
2i
c.-27+95del
r.(=)
p.(=)
Maternal (inferred)
-
likely benign
g.135252234del
g.136170075del
-
-
FHL1_000029
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
-?/.
2i
c.-27+97del
r.(=)
p.(=)
Maternal (inferred)
-
likely benign
g.135252236del
g.136170077del
-
-
FHL1_000025
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
-?/.
2i
c.-27+97del
r.(=)
p.(=)
Maternal (inferred)
-
likely benign
g.135252236del
g.136170077del
-
-
FHL1_000025
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
-/.
-
c.-26-9615C>G
r.(=)
p.(=)
Unknown
-
benign
g.135278951C>G
-
FHL1(NM_001159701.2):c.-11C>G
-
FHL1_000092
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-26-9586T>C
r.(=)
p.(=)
Unknown
-
likely benign
g.135278980T>C
g.136196821T>C
FHL1(NM_001159701.1):c.19T>C (p.S7P)
-
FHL1_000032
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.-26-9580G>C
r.(=)
p.(=)
Unknown
-
VUS
g.135278986G>C
-
FHL1(NM_001159701.2):c.25G>C (p.A9P)
-
FHL1_000077
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.-26-9571C>G
r.(=)
p.(=)
Unknown
-
VUS
g.135278995C>G
-
FHL1(NM_001159701.2):c.34C>G (p.L12V)
-
FHL1_000113
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.-26-9544G>T
r.(=)
p.(=)
Unknown
-
VUS
g.135279022G>T
g.136196863G>T
FHL1(NM_001159701.1):c.61G>T (p.G21C)
-
FHL1_000078
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.-26-9529C>T
r.(=)
p.(=)
Unknown
-
benign
g.135279037C>T
-
FHL1(NM_001159704.1):c.-26-9529C>T
-
FHL1_000114
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.-26-5C>T
r.spl?
p.?
Unknown
-
benign
g.135288561C>T
g.136206402C>T
FHL1(NM_001159699.1):c.23-5C>T (p.?), FHL1(NM_001159704.1):c.-26-5C>T
-
FHL1_000033
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-26-5C>T
r.spl?
p.?
Unknown
-
likely benign
g.135288561C>T
g.136206402C>T
FHL1(NM_001159699.1):c.23-5C>T (p.?), FHL1(NM_001159704.1):c.-26-5C>T
-
FHL1_000033
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-26-5C>T
r.spl?
p.?
Unknown
-
likely benign
g.135288561C>T
g.136206402C>T
FHL1(NM_001159699.1):c.23-5C>T (p.?), FHL1(NM_001159704.1):c.-26-5C>T
-
FHL1_000033
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.-26-5C>T
r.spl?
p.?
Unknown
-
VUS
g.135288561C>T
g.136206402C>T
FHL1(NM_001159699.1):c.23-5C>T (p.?), FHL1(NM_001159704.1):c.-26-5C>T
-
FHL1_000033
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.-26-5C>T
r.spl?
p.?
Unknown
-
benign
g.135288561C>T
-
FHL1(NM_001159699.1):c.23-5C>T (p.?), FHL1(NM_001159704.1):c.-26-5C>T
-
FHL1_000033
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_8_
c.0
r.0
p.0
Maternal (inferred)
-
pathogenic
g.(?_135229559)_(135293518_?)del
-
del gene
-
FHL1_000062
no sequence FHL gene
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
M
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
?/.
3
c.5C>T
r.(?)
p.(Ala2Val)
Maternal (inferred)
-
VUS
g.135288596C>T
g.136206437C>T
-
-
FHL1_000063
no second variant
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
M
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
?/.
3
c.5C>T
r.(?)
p.(Ala2Val)
Maternal (inferred)
-
VUS
g.135288596C>T
g.136206437C>T
-
-
FHL1_000063
-
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
M
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
?/.
3
c.5C>T
r.(?)
p.(Ala2Val)
Parent #1
-
VUS
g.135288596C>T
g.136206437C>T
-
-
FHL1_000063
-
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
-?/.
-
c.22_25del
r.(?)
p.(His8ThrfsTer21)
Unknown
-
likely benign
g.135288613_135288616del
g.136206454_136206457del
FHL1(NM_001159704.1):c.22_25delCACT (p.H8Tfs*21)
-
FHL1_000034
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.65A>C
r.(?)
p.(Lys22Thr)
Unknown
-
VUS
g.135288656A>C
g.136206497A>C
FHL1(NM_001159704.1):c.65A>C (p.K22T)
-
FHL1_000035
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.65A>C
r.(?)
p.(Lys22Thr)
Unknown
-
VUS
g.135288656A>C
-
FHL1(NM_001159704.1):c.65A>C (p.K22T)
-
FHL1_000035
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.113A>G
r.(?)
p.(Asn38Ser)
Unknown
-
VUS
g.135288704A>G
g.136206545A>G
FHL1(NM_001159704.1):c.113A>G (p.N38S)
-
FHL1_000036
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
3
c.113A>G
r.(?)
p.(Asn38Ser)
Parent #1
-
VUS
g.135288704A>G
g.136206545A>G
-
-
FHL1_000036
-
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
?/.
-
c.113A>G
r.(?)
p.(Asn38Ser)
Unknown
-
VUS
g.135288704A>G
g.136206545A>G
-
-
FHL1_000036
-
PubMed: Walsh 2017
-
-
Germline
-
4/1535 cases
-
-
-
DNA
SEQ, SEQ-NG
-
cardiomyopathy gene panel
CM
-
PubMed: Walsh 2017
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
4
Johan den Dunnen
?/.
-
c.119G>A
r.(?)
p.(Cys40Tyr)
Unknown
-
VUS
g.135288710G>A
g.136206551G>A
-
-
FHL1_000089
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.142G>A
r.(?)
p.(Gly48Ser)
Unknown
-
VUS
g.135288733G>A
g.136206574G>A
-
-
FHL1_000094
-
PubMed: Walsh 2017
-
-
Germline
-
1/1535 cases
-
-
-
DNA
SEQ, SEQ-NG
-
cardiomyopathy gene panel
CM
-
PubMed: Walsh 2017
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
-/.
-
c.156+5C>T
r.spl?
p.?
Unknown
-
benign
g.135288752C>T
g.136206593C>T
FHL1(NM_001159699.1):c.204+5C>T (p.?), FHL1(NM_001159704.1):c.156+5C>T
-
FHL1_000037
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.156+5C>T
r.spl?
p.?
Unknown
-
benign
g.135288752C>T
g.136206593C>T
FHL1(NM_001159699.1):c.204+5C>T (p.?), FHL1(NM_001159704.1):c.156+5C>T
-
FHL1_000037
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.156+5C>T
r.spl?
p.?
Unknown
-
benign
g.135288752C>T
g.136206593C>T
FHL1(NM_001159699.1):c.204+5C>T (p.?), FHL1(NM_001159704.1):c.156+5C>T
-
FHL1_000037
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.156+5C>T
r.spl?
p.?
Unknown
-
likely benign
g.135288752C>T
g.136206593C>T
FHL1(NM_001159699.1):c.204+5C>T (p.?), FHL1(NM_001159704.1):c.156+5C>T
-
FHL1_000037
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.156+5C>T
r.spl?
p.?
Unknown
-
benign
g.135288752C>T
g.136206593C>T
FHL1(NM_001159699.1):c.204+5C>T (p.?), FHL1(NM_001159704.1):c.156+5C>T
-
FHL1_000037
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.156+5C>T
r.spl?
p.?
Unknown
-
likely benign
g.135288752C>T
-
FHL1(NM_001159699.1):c.204+5C>T (p.?), FHL1(NM_001159704.1):c.156+5C>T
-
FHL1_000037
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.156+14C>G
r.(=)
p.(=)
Unknown
-
benign
g.135288761C>G
g.136206602C>G
FHL1(NM_001159704.1):c.156+14C>G
-
FHL1_000038
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.156+14C>G
r.(=)
p.(=)
Unknown
-
likely benign
g.135288761C>G
g.136206602C>G
FHL1(NM_001159704.1):c.156+14C>G
-
FHL1_000038
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.156+17T>C
r.(=)
p.(=)
Unknown
-
likely benign
g.135288764T>C
-
FHL1(NM_001159699.1):c.204+17T>C (p.(=))
-
FHL1_000107
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.161dup
r.(?)
p.(His55Alafs*3)
Unknown
-
pathogenic
g.135289179dup
-
FHL1(NM_001449.5):c.161dupT (p.H55Afs*3)
-
FHL1_000106
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.195C>T
r.(?)
p.(Cys65=)
Unknown
-
likely benign
g.135289213C>T
g.136207054C>T
-
-
FHL1_000079
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.199C>T
r.(?)
p.(Arg67Cys)
Unknown
-
VUS
g.135289217C>T
g.136207058C>T
FHL1(NM_001449.5):c.199C>T (p.R67C)
-
FHL1_000039
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.199C>T
r.(?)
p.(Arg67Cys)
Unknown
-
VUS
g.135289217C>T
-
FHL1(NM_001449.5):c.199C>T (p.R67C)
-
FHL1_000039
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.204T>G
r.(?)
p.(Cys68Trp)
Unknown
-
VUS
g.135289222T>G
-
-
-
FHL1_000108
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.211T>A
r.(?)
p.(Cys71Ser)
Unknown
-
VUS
g.135289229T>A
g.136207070T>A
-
-
FHL1_000095
-
PubMed: Walsh 2017
-
-
Germline
-
1/1535 cases
-
-
-
DNA
SEQ, SEQ-NG
-
cardiomyopathy gene panel
CM
-
PubMed: Walsh 2017
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.213C>A
r.(?)
p.(Cys71*)
Maternal (inferred)
-
pathogenic
g.135289231C>A
g.136207072C>A
-
-
FHL1_000064
-
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
-?/.
-
c.220C>T
r.(?)
p.(Pro74Ser)
Unknown
-
likely benign
g.135289238C>T
g.136207079C>T
FHL1(NM_001159704.1):c.220C>T (p.P74S)
-
FHL1_000040
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.221C>G
r.(?)
p.(Pro74Arg)
Unknown
-
VUS
g.135289239C>G
g.136207080C>G
-
-
FHL1_000096
-
PubMed: Walsh 2017
-
-
Germline
-
1/1535 cases
-
-
-
DNA
SEQ, SEQ-NG
-
cardiomyopathy gene panel
CM
-
PubMed: Walsh 2017
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
?/.
4
c.254A>G
r.(?)
p.(Asn85Ser)
Parent #1
-
VUS
g.135289272A>G
g.136207113A>G
-
-
FHL1_000065
no second variant
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
?/.
-
c.280A>G
r.(?)
p.(Thr94Ala)
Unknown
-
VUS
g.135289298A>G
g.136207139A>G
-
-
FHL1_000097
-
PubMed: Walsh 2017
-
-
Germline
-
1/1535 cases
-
-
-
DNA
SEQ, SEQ-NG
-
cardiomyopathy gene panel
CM
-
PubMed: Walsh 2017
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.283C>T
r.(?)
p.(Arg95Trp)
Unknown
-
VUS
g.135289301C>T
-
FHL1(NM_001159702.2):c.283C>T (p.R95W)
-
FHL1_000109
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
4
c.302G>T
r.(?)
p.(Cys101Phe)
Parent #1
-
pathogenic
g.135289320G>T
g.136207161G>T
-
-
FHL1_000019
not in >250 control chromosomes
PubMed: Shalaby 2009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RBM
-
PubMed: Kobayashi 1992
-
F
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.304_312del
r.(?)
p.(Lys102_Cys104del)
Parent #1
-
pathogenic
g.135289322_135289330del
g.136207163_136207171del
-
-
FHL1_000020
not in >250 control chromosomes
PubMed: Shalaby 2009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RBM
-
PubMed: Kiyomoto 1995
-
M
-
Japan
-
-
-
-
-
1
Johan den Dunnen
?/.
4
c.308G>T
r.(?)
p.(Gly103Val)
Parent #1
-
VUS
g.135289326G>T
g.136207167G>T
-
-
FHL1_000066
no second variant
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
+/.
4
c.310T>C
r.(?)
p.(Cys104Arg)
Maternal (confirmed)
-
pathogenic
g.135289328T>C
g.136207169T>C
-
-
FHL1_000018
not in >250 control chromosomes
PubMed: Shalaby 2009
,
OMIM:var0009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RBM
-
PubMed: Ohsawa 2007
daugther of 19171836.5
F
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.310T>C
r.(?)
p.(Cys104Arg)
Parent #1
-
pathogenic
g.135289328T>C
g.136207169T>C
-
-
FHL1_000018
not in >250 control chromosomes
PubMed: Shalaby 2009
,
OMIM:var0009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RBM
-
PubMed: Ohsawa 2007
mother of 19171836.4
F
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.311G>A
r.(?)
p.(Cys104Tyr)
Unknown
-
pathogenic
g.135289329G>A
g.136207170G>A
-
-
FHL1_000119
-
PubMed: Waddell 2011
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MD
Pat1
PubMed: Waddell 2011
-
M
-
Australia
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.331G>T
r.(?)
p.(Gly111*)
Unknown
-
pathogenic
g.135289349G>T
g.136207190G>T
-
-
FHL1_000098
-
PubMed: Walsh 2017
-
-
Germline
-
1/1535 cases
-
-
-
DNA
SEQ, SEQ-NG
-
cardiomyopathy gene panel
CM
-
PubMed: Walsh 2017
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.331+4C>T
r.spl?
p.?
Unknown
-
VUS
g.135289353C>T
g.136207194C>T
FHL1(NM_001159702.2):c.331+4C>T
-
FHL1_000080
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.332-10C>A
r.(=)
p.(=)
Unknown
-
likely benign
g.135289941C>A
-
FHL1(NM_001159704.1):c.332-10C>A
-
FHL1_000117
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
4i_6i
c.332-?_688+?del
r.(ex05ex06del)
p.(del?)
Maternal (confirmed)
-
pathogenic
g.135289951_135290800del
-
-
-
FHL1_000005
1.44Kb deletion; linkage to Xq26.3; not in 200 control chromosomes Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message.
PubMed: Gueneau 2009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
-
PubMed: Gueneau 2009
3-generation family, 2 affecteds
M
-
-
Europe
>35y
-
-
-
2
Johan den Dunnen
?/.
-
c.343G>T
r.(?)
p.(Val115Leu)
Unknown
-
VUS
g.135289962G>T
g.136207803G>T
-
-
FHL1_000099
-
PubMed: Walsh 2017
-
-
Germline
-
1/1535 cases
-
-
-
DNA
SEQ, SEQ-NG
-
cardiomyopathy gene panel
CM
-
PubMed: Walsh 2017
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
?/.
5
c.356G>T
NM_001449.4
p.(Gly119Val)
Maternal (inferred)
-
VUS
g.135289975G>T
g.136207816G>T
-
-
FHL1_000067
-
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
?/.
5
c.361G>A
r.(?)
p.(Val121Ile)
Parent #1
-
VUS
g.135289980G>A
g.136207821G>A
-
-
FHL1_000068
no second variant
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
?/.
5
c.361G>A
r.(?)
p.(Val121Ile)
Parent #1
-
VUS
g.135289980G>A
g.136207821G>A
-
-
FHL1_000068
no second variant
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
+/.
5
c.365G>C
r.(?)
p.(Trp122Ser)
Maternal (confirmed)
-
pathogenic
g.135289984G>C
g.136207825G>C
-
-
FHL1_000010
linkage to Xq26.3; not in 235 control chromosomes
PubMed: Quinzii 2008
,
OMIM:var0001
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SPM
-
PubMed: Wilhelmesen 1996, FamC
4-generation family, 16 affecteds (8 male, 8 female)
M
-
United States
Italy
-
-
-
-
8
Johan den Dunnen
+/.
5
c.365G>C
r.(?)
p.(Trp122Ser)
Maternal (confirmed)
-
pathogenic
g.135289984G>C
g.136207825G>C
-
-
FHL1_000010
linkage to Xq26.3; not in 235 control chromosomes
PubMed: Quinzii 2008
,
OMIM:var0001
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
SPM
-
PubMed: Wilhelmesen 1996, FamC
4-generation family, 16 affecteds (8 male, 8 female)
F
-
United States
Italy
-
-
-
-
8
Johan den Dunnen
?/.
5
c.366G>C
r.(?)
p.(Trp122Cys)
Maternal (inferred)
-
VUS
g.135289985G>C
g.136207826G>C
-
-
FHL1_000069
no second variant
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
M
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
+/.
5
c.367C>T
r.367c>u
p.His123Tyr
Parent #1
-
pathogenic
g.135289986C>T
g.136207827C>T
-
-
FHL1_000013
skewed X-inactivation normal allele (72%)
PubMed: Schessl 2008
,
OMIM:var0004
-
-
De novo
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
RBM
-
PubMed: Schessl 2008
,
OMIM:var0004
-
F
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
5
c.367C>T
r.367c>u
p.His123Tyr
Unknown
-
NA
g.135289986C>T
g.136207827C>T
-
-
FHL1_000013
expression cloning COS-7 and C2C12 cells gives dense large inclusions (mostly adjacent to nucleus)
PubMed: Schessl 2008
,
OMIM:var0004
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
5
c.371_372del
r.(?)
p.(Lys124Argfs*6)
Maternal (confirmed)
-
pathogenic
g.135289990_135289991del
g.136207831_136207832del
371_372delAA
-
FHL1_000008
not in 200 control chromosomes
PubMed: Gueneau 2009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
-
PubMed: Gueneau 2009
-
M
-
-
Europe
>26y
-
-
-
1
Johan den Dunnen
?/.
5
c.374A>G
r.(?)
p.(Asp125Gly)
Parent #1
-
VUS
g.135289993A>G
g.136207834A>G
-
-
FHL1_000070
no second variant
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
+/.
5
c.380_382dup
r.(?)
p.(Phe127_Thr128insIle)
Maternal (confirmed)
-
pathogenic
g.135289999_135290001dup
g.136207840_136207842dup
381_382insATC
-
FHL1_000012
not in 570 Australian chromosomes
PubMed: Windpassinger 2008
,
OMIM:var0003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MD
-
PubMed: Windpassinger 2008
5-generation family, 4 affecteds
M
-
United Kingdom (Great Britain)
-
-
-
-
-
4
Johan den Dunnen
+/.
5
c.395G>T
r.395g>u
p.Cys132Phe
Parent #1
-
pathogenic
g.135290014G>T
g.136207855G>T
-
-
FHL1_000014
skewed X-inactivation normal allele (78%)
PubMed: Schessl 2008
,
OMIM:var0005
-
-
De novo
-
-
-
-
-
RNA, DNA
RT-PCR, SEQ
-
-
RBM
-
PubMed: Schessl 2008
,
OMIM:var0005
-
F
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
5
c.395G>T
r.395g>u
p.Cys132Phe
Unknown
-
NA
g.135290014G>T
g.136207855G>T
-
-
FHL1_000014
expression cloning COS-7 and C2C12 cells gives dense large inclusions (mostly adjacent to nucleus)
PubMed: Schessl 2008
,
OMIM:var0005
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.395G>T
r.(?)
p.(Cys132Phe)
Unknown
-
VUS
g.135290014G>T
g.136207855G>T
-
-
FHL1_000014
-
PubMed: Walsh 2017
-
-
Germline
-
1/1535 cases
-
-
-
DNA
SEQ, SEQ-NG
-
cardiomyopathy gene panel
CM
-
PubMed: Walsh 2017
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+?/.
5
c.412A>C
r.(?)
p.(Thr138Pro)
Unknown
-
VUS
g.135290031A>C
-
-
-
FHL1_000112
-
-
-
-
Unknown
-
-
beatrice.alessandrini
-
-
DNA
SEQ-NG
-
-
CMD
-
-
-
-
-
-
-
-
-
-
-
1
Beatrice Alessandrini
-/.
-
c.441C>T
r.(?)
p.(Asp147=)
Unknown
-
benign
g.135290060C>T
g.136207901C>T
FHL1(NM_001159704.1):c.441C>T (p.D147=)
-
FHL1_000041
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.441C>T
r.(?)
p.(Asp147=)
Unknown
-
likely benign
g.135290060C>T
g.136207901C>T
FHL1(NM_001159704.1):c.441C>T (p.D147=)
-
FHL1_000041
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.441C>T
r.(?)
p.(Asp147=)
Unknown
-
benign
g.135290060C>T
g.136207901C>T
FHL1(NM_001159704.1):c.441C>T (p.D147=)
-
FHL1_000041
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
5
c.441C>T
r.(?)
p.(=)
Parent #1
-
likely benign
g.135290060C>T
g.136207901C>T
p.D147D
-
FHL1_000001
recurrent, found 2 times; only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk)
PubMed: Tarpey 2009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MRX;IDX
-
PubMed: Tarpey 2009
-
M
-
-
-
-
-
-
-
2
Johan den Dunnen
-/.
-
c.441C>T
r.(?)
p.(Asp147=)
Unknown
-
benign
g.135290060C>T
g.136207901C>T
FHL1(NM_001159704.1):c.441C>T (p.D147=)
-
FHL1_000001
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
5
c.446_448del
r.(?)
p.(Tyr149del)
Parent #1
-
VUS
g.135290065_135290067del
g.136207906_136207908del
446_448delACT
-
FHL1_000071
no second variant
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
?/.
5
c.446_448del
r.(?)
p.(Tyr149del)
Parent #1
-
VUS
g.135290065_135290067del
g.136207906_136207908del
446_448delACT
-
FHL1_000071
-
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
+/.
5
c.449G>A
r.(?)
p.(Cys150Tyr)
Parent #1
-
pathogenic
g.135290068G>A
g.136207909G>A
-
-
FHL1_000017
not in >250 control chromosomes
PubMed: Shalaby 2009
,
OMIM:var0008
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RBM
-
PubMed: Kiyomoto 1995
-
F
-
Japan
-
-
-
-
-
1
Johan den Dunnen
-/.
-
c.450C>T
r.(?)
p.(Cys150=)
Unknown
-
benign
g.135290069C>T
g.136207910C>T
FHL1(NM_001159704.1):c.450C>T (p.C150=)
-
FHL1_000042
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
5
c.457T>C
r.457u>c
p.Cys153Arg
Parent #1
-
pathogenic
g.135290076T>C
g.136207917T>C
-
-
FHL1_000015
no skewed X-inactivation
PubMed: Schessl 2008
,
OMIM:var0006
-
-
De novo
-
-
-
-
-
RNA, DNA
RT-PCR, SEQ
-
-
RBM
-
PubMed: Schessl 2008
,
OMIM:var0006
mother of 18274675.3; 3-generation family
F
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
5
c.457T>C
r.457u>c
p.Cys153Arg
Maternal (confirmed)
-
pathogenic
g.135290076T>C
g.136207917T>C
-
-
FHL1_000015
-
PubMed: Schessl 2008
,
OMIM:var0006
-
-
Germline
-
-
-
-
-
RNA, DNA
RT-PCR, SEQ
-
-
RBM
-
PubMed: Schessl 2008
,
OMIM:var0006
son of 18274675.m3; 3-generation family
M
-
United States
-
>21y
-
-
-
1
Johan den Dunnen
+/.
5
c.458G>A
r.458g>a
p.Cys153Tyr
Parent #1
-
pathogenic
g.135290077G>A
g.136207918G>A
-
-
FHL1_000016
no skewed X-inactivation
PubMed: Schessl 2008
,
OMIM:var0007
-
-
Germline
-
-
-
-
-
RNA, DNA
RT-PCR, SEQ
-
-
RBM
-
PubMed: Schessl 2008
,
OMIM:var0007
mother of 18274675.4; 2-generation family
F
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
5
c.458G>A
r.458g>a
p.Cys153Tyr
Maternal (confirmed)
-
pathogenic
g.135290077G>A
g.136207918G>A
-
-
FHL1_000016
-
PubMed: Schessl 2008
,
OMIM:var0007
-
-
Germline
-
-
-
-
-
RNA, DNA
RT-PCR, SEQ
-
-
RBM
-
PubMed: Schessl 2008
,
OMIM:var0007
son of 18274675.m4; 2-generation family
M
-
United States
-
>18y
-
-
-
1
Johan den Dunnen
+/.
5
c.458G>A
r.(?)
p.(Cys153Tyr)
Unknown
-
pathogenic (dominant)
g.135290077G>A
g.136207918G>A
-
-
FHL1_000016
-
PubMed: Evilä 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
MyoCap 180 myopathy gene panel
MYOP
P3
PubMed: Evilä 2016
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+?/.
5
c.461A>C
r.(?)
p.(His154Pro)
Parent #1
-
likely pathogenic
g.135290080A>C
g.136207921A>C
-
-
FHL1_000023
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
MYOP
-
-
family, 6 affected
F
no
Iran
-
-
-
-
-
6
Zohreh Fattahi
+/.
5
c.469_470del
r.(?)
p.(Lys157Valfs*36)
Maternal (confirmed)
-
pathogenic
g.135290088_135290089del
g.136207929_136207930del
-
-
FHL1_000006
not in 200 control chromosomes
PubMed: Gueneau 2009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
-
PubMed: Gueneau 2009
4-generation family, 3 affecteds
M
-
Japan
-
>23y
-
-
-
3
Johan den Dunnen
?/.
5
c.486C>G
r.(?)
p.(Cys162Trp)
Maternal (inferred)
-
VUS
g.135290105C>G
g.136207946C>G
-
-
FHL1_000072
-
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
M
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
-/.
-
c.486C>T
r.(?)
p.(Cys162=)
Unknown
-
benign
g.135290105C>T
g.136207946C>T
FHL1(NM_001159704.1):c.486C>T (p.C162=)
-
FHL1_000090
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.488T>G
r.(?)
p.(Val163Gly)
Unknown
-
VUS
g.135290107T>G
g.136207948T>G
-
-
FHL1_000060
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
5i
c.501+130G>A
r.(=)
p.(=)
Maternal (inferred)
-
likely benign
g.135290250G>A
g.136208091G>A
-
-
FHL1_000027
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
-?/.
5i
c.501+130G>A
r.(=)
p.(=)
Maternal (inferred)
-
likely benign
g.135290250G>A
g.136208091G>A
-
-
FHL1_000027
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
+/.
5i_6i
c.502-20_688+395delins(84)
r.502_888del
p.Ala168_Pro296del
Maternal (confirmed)
-
pathogenic
g.?
-
NM_001449.4:831-20_1017+395del602ins84
-
FHL1_000022
mRNA no FHL1A, FHL1B reduced, FHL1C raised 20x
PubMed: Tiffin 2013
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
EDMD
-
PubMed: Tiffin 2013
3-generation family, 3 affected males, 2 unaffected heterozygous carrier females
M
no
New Zealand
-
-
-
-
-
3
Johan den Dunnen
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