Data for reference PMID:25533962

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.

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%)

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'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

665 entries on 14 pages. Showing entries 1 - 50.

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Effect	Chr	Classification method	Clinical classification	DNA change (genomic) (hg19)	DNA change (hg38)	Published as	ISCN	DB-ID	Variant remarks	ClinVar ID	dbSNP ID	Origin	Segregation	Frequency	Re-site	VIP	Methylation	Owner
+/.	1	-	pathogenic	g.(pter_qter)del	-	-	-	chr1_000750	isodisomy, paternal	-	-	Uniparental disomy, paternal allele	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.(pter_qter)dup	-	-	-	chr1_000728	isodisomy, paternal	-	-	Uniparental disomy, paternal allele	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.3753239G>C	g.3836675G>C	-	-	CEP104_000001	association variant/phenotype uncertain	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.7538305_7760463del	g.7478245_7700403del	-	-	CAMTA1_000006	decreased gene dosage	-	-	De novo	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.7797375C>T	g.7737315C>T	-	-	CAMTA1_000005	-	-	-	De novo	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.20540741_22890410del	g.20214248_22563917del	-	-	HSPG2_000007	decreased gene dosage	-	-	De novo	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.22200454G>T	g.21873961G>T	-	-	HSPG2_000006	-	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.22205601T>C	g.21879108T>C	-	-	HSPG2_000005	-	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.27022755_27190596dup	g.26696264_26864105dup	-	-	ARID1A_000099	increased gene dosage	-	-	De novo	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.27089742G>A	g.26763251G>A	-	-	ARID1A_000100	-	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.43395625G>A	g.42929954G>A	-	-	SLC2A1_000035	-	-	-	De novo	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.52863470C>A	g.52397798C>A	-	-	ORC1_000001	-	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.93811483_98850435del	-	-	-	DPYD_000017	decreased gene dosage	-	-	De novo	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.97000749_99813665del	g.96535193_99348109del	-	-	DPYD_000018	decreased gene dosage	-	-	De novo	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.103427786A>T	g.102962230A>T	-	-	COL11A1_000004	-	-	-	De novo	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.109823457T>A	g.109280835T>A	-	-	PSRC1_000001	association variant/phenotype uncertain	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.120379932G>T	g.119837309G>T	-	-	NBPF7_000001	association variant/phenotype uncertain	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.145752381_148936712del	-	-	-	ACP6_000003	decreased gene dosage	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.145765433_148250973dup	-	-	-	ACP6_000002	increased gene dosage	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.147380372T>G	g.147908245T>G	-	-	GJA8_000026	-	-	-	De novo	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.151378156_151378160delAGGGinsAGG	g.151405680_151405684delinsAGG	-	-	POGZ_000005	Variant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message.	-	-	De novo	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.151378800A>T	g.151406324A>T	-	-	POGZ_000002	-	-	-	De novo	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.152277415G>C	g.152304939G>C	-	-	FLG_000005	-	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.152277622G>T	g.152305146G>T	-	-	FLG_000001	association variant/phenotype uncertain	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.152282576G>A	g.152310100G>A	-	-	FLG_000002	association variant/phenotype uncertain	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.152284382C>T	g.152311906C>T	-	-	FLG_000003	-	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.152285861G>A	g.152313385G>A	-	-	FLG_000004	association variant/phenotype uncertain	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.152285861G>A	g.152313385G>A	-	-	FLG_000004	association variant/phenotype uncertain	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.152285861G>A	g.152313385G>A	-	-	FLG_000004	association variant/phenotype uncertain	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.161088000G>A	g.161118210G>A	-	-	NIT1_000001	association variant/phenotype uncertain	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.161088000G>A	g.161118210G>A	-	-	NIT1_000001	association variant/phenotype uncertain	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.207039710G>T	g.206866365G>T	-	-	IL20_000001	association variant/phenotype uncertain	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.212985592G>A	g.212812250G>A	-	-	TATDN3_000002	association variant/phenotype uncertain	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.220364620C>T	g.220191278C>T	-	-	RAB3GAP2_000002	-	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.220375711C>G	g.220202369C>G	-	-	RAB3GAP2_000003	-	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.228112065G>T	g.227924364G>T	-	-	WNT9A_000001	association variant/phenotype uncertain	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.230925937T>G	g.230790191T>G	-	-	CAPN9_000001	association variant/phenotype uncertain	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.230925937T>G	g.230790191T>G	-	-	CAPN9_000001	association variant/phenotype uncertain	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.236966848G>A	g.236803548G>A	-	-	MTR_000001	-	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	2	-	pathogenic	g.(pter_qter)del	-	-	-	chr2_000822	isodisomy, maternal	-	-	Uniparental disomy, maternal allele	-	-	-	-	-	Johan den Dunnen
+/.	2	-	pathogenic	g.(pter_qter)dup	-	-	-	chr2_000784	isodisomy, maternal	-	-	Uniparental disomy, maternal allele	-	-	-	-	-	Johan den Dunnen
+/.	2	-	pathogenic	g.1507598G>T	g.1503826G>T	-	-	TPO_000001	association variant/phenotype uncertain	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	2	-	pathogenic	g.1507598G>T	g.1503826G>T	-	-	TPO_000001	association variant/phenotype uncertain	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	2	-	pathogenic	g.1507598G>T	g.1503826G>T	-	-	TPO_000001	association variant/phenotype uncertain	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	2	-	pathogenic	g.3800388C>G	g.3752798C>G	-	-	DCDC2C_000001	association variant/phenotype uncertain	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	2	-	pathogenic	g.16085972G>A	g.15945850G>A	-	-	MYCN_000001	-	-	-	De novo	-	-	-	-	-	Johan den Dunnen
+/.	2	-	pathogenic	g.28081439C>G	g.27858572C>G	-	-	RBKS_000001	association variant/phenotype uncertain	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	2	-	pathogenic	g.37000956C>G	g.36773813C>G	-	-	VIT_000001	association variant/phenotype uncertain	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	2	-	pathogenic	g.50733693G>A	g.50506555G>A	-	-	NRXN1_000001	-	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	2	-	pathogenic	g.55407644A>T	g.55180508A>T	-	-	CLHC1_000001	association variant/phenotype uncertain	-	-	Germline	-	-	-	-	-	Johan den Dunnen

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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.

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

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

572 entries on 12 pages. Showing entries 1 - 50.

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Individual ID	ID_report	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00050153	-	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	CEP250	CEP250	1	1	Johan den Dunnen
00050154	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	ZSWIM1	ZSWIM1	1	1	Johan den Dunnen
00050155	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	TTC40	TTC40	1	1	Johan den Dunnen
00050156	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	-	LRRC9	1	1	Johan den Dunnen
00050157	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	-	LRRC9	1	1	Johan den Dunnen
00050158	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	SCGN	SCGN	1	1	Johan den Dunnen
00050159	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	CAPN9	CAPN9	1	1	Johan den Dunnen
00050160	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	RHOBTB3	RHOBTB3	1	1	Johan den Dunnen
00050161	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	-	LRRC9	1	1	Johan den Dunnen
00050162	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	-	-	1	1	Johan den Dunnen
00050163	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	THNSL2	THNSL2	1	1	Johan den Dunnen
00050164	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	RIMS1	RIMS1	1	1	Johan den Dunnen
00050165	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	AMZ1	AMZ1	1	1	Johan den Dunnen
00050166	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	VIT	VIT	1	1	Johan den Dunnen
00050167	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	CDHR3	CDHR3	1	1	Johan den Dunnen
00050168	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	ZFP91-CNTF	ZFP91, ZFP91-CNTF	1	1	Johan den Dunnen
00050169	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	ABCC12	ABCC12	1	1	Johan den Dunnen
00050170	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	TATDN3	TATDN3	1	1	Johan den Dunnen
00050171	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	SLC26A5	SLC26A5	1	1	Johan den Dunnen
00050172	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	ZNF77	ZNF77	1	1	Johan den Dunnen
00050173	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	KRT31	KRT31	1	1	Johan den Dunnen
00050175	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	FBLN1	FBLN1	1	1	Johan den Dunnen
00050176	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	NBPF7	NBPF7	1	1	Johan den Dunnen
00050177	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	ANKS1B	ANKS1B	1	1	Johan den Dunnen
00050178	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	ANPEP	ANPEP	1	1	Johan den Dunnen
00050179	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	DDX4	DDX4	1	1	Johan den Dunnen
00050180	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	GJA10	GJA10	1	1	Johan den Dunnen
00050181	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	ZAN	ZAN	1	1	Johan den Dunnen
00050182	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	PCDHGA10	PCDHGA1, PCDHGA10, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6	1	1	Johan den Dunnen
00050183	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	CTBP1-AS2	CTBP1-AS2	1	1	Johan den Dunnen
00050184	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	SULT1C3	SULT1C3	1	1	Johan den Dunnen
00050185	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	FBLN1	FBLN1	1	1	Johan den Dunnen
00050186	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	CES5A	CES5A	1	1	Johan den Dunnen
00050187	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	MIER3	-	1	1	Johan den Dunnen
00050188	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	KIAA1755	KIAA1755	1	1	Johan den Dunnen
00050189	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	WNT9A	WNT9A	1	1	Johan den Dunnen
00050190	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	UGT2A1	UGT2A1	1	1	Johan den Dunnen
00050191	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	PTH2R	PTH2R	1	1	Johan den Dunnen
00050192	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	MUCL1	MUCL1	1	1	Johan den Dunnen
00050193	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	B3GLCT	-	1	1	Johan den Dunnen
00050194	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	LPA	LPA	1	1	Johan den Dunnen
00050195	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	PSRC1	PSRC1	1	1	Johan den Dunnen
00050196	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	HRASLS	HRASLS	1	1	Johan den Dunnen
00050197	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	HTR3D	HTR3D	1	1	Johan den Dunnen
00050198	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	CIAPIN1	CIAPIN1	1	1	Johan den Dunnen
00050199	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	JMJD8	JMJD8	1	1	Johan den Dunnen
00050200	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	KRT31	KRT31	1	1	Johan den Dunnen
00050201	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	PPEF2	PPEF2	1	1	Johan den Dunnen
00050202	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	RBKS	RBKS	1	1	Johan den Dunnen
00050203	-	proband	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	severe undiagnosed developmental disorders	CAPN9	CAPN9	1	1	Johan den Dunnen

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Global Variome shared LOVD

JPH2 (junctophilin 2)