Data for reference DOI:10.1038

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'

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10683 entries on 214 pages. Showing entries 1 - 50.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10	11	...		Next ›	Last »

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.2160267T>G	g.2228828T>G	-	-	SKI_000014	-	-	-	Unknown	-	1/12 cases	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.2160299C>G	g.2228860C>G	-	-	SKI_000001	-	-	rs387907304	De novo	-	1/12 cases	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.2160299C>G	g.2228860C>G	-	-	SKI_000001	-	-	rs387907304	Germline	-	1/12 cases	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.2160305G>A	g.2228866G>A	-	-	SKI_000004	-	-	rs387907306	Unknown	-	1/12 cases	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.2160305G>T	g.2228866G>T	-	-	SKI_000012	-	-	rs387907306	De novo	-	1/12 cases	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.2160306G>A	g.2228867G>A	-	-	SKI_000005	-	-	rs387907305	Unknown	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.2160308C>T	g.2228869C>T	-	-	SKI_000008	-	-	-	Unknown	-	1/12 cases	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.2160488_2160496del	g.2229049_2229057del	-	-	SKI_000013	-	-	rs398122889	De novo	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.2160552G>A	g.2229113G>A	-	-	SKI_000010	-	-	rs387907303	De novo	-	1/12 cases	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.2160554G>C	g.2229115G>C	-	-	SKI_000011	-	-	-	De novo	-	1/12 cases	-	-	-	Johan den Dunnen
+?/.	1	-	likely pathogenic	g.3329229G>C	g.3412665G>C	-	-	PRDM16_000003	-	-	-	Germline	?	-	-	-	-	Christin Hertz
+?/.	1	-	likely pathogenic	g.3329337C>T	g.3412773C>T	-	-	PRDM16_000004	-	-	-	Germline	-	-	-	-	-	Christin Hertz
+/.	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	-	likely pathogenic (dominant)	g.8418302G>T	g.8358242G>T	-	-	RERE_000002	-	-	-	De novo	-	-	-	-	-	Danielle Bosch
+/.	1	-	pathogenic	g.10032132A>G	g.9972074A>G	-	-	NMNAT1_000034	-	-	-	Germline	yes	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.10032156G>A	g.9972098G>A	-	-	NMNAT1_000028	-	-	-	Germline	yes	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.10032156G>A	g.9972098G>A	-	-	NMNAT1_000028	-	-	-	Germline	-	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.10032168G>A	g.9972110G>A	-	-	NMNAT1_000025	-	-	-	Germline	yes	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.10032168G>A	g.9972110G>A	-	-	NMNAT1_000025	-	-	-	Germline	yes	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.10032168G>A	g.9972110G>A	-	-	NMNAT1_000025	-	-	-	Germline	yes	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.10032190T>A	g.9972132T>A	-	-	NMNAT1_000035	-	-	-	Germline	yes	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.10032235T>C	g.9972177T>C	-	-	NMNAT1_000036	-	-	-	Germline	yes	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.10032235T>C	g.9972177T>C	-	-	NMNAT1_000036	-	-	-	Germline	yes	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.10035695C>T	g.9975637C>T	-	-	NMNAT1_000037	-	-	-	Germline	yes	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.10035730C>T	g.9975672C>T	-	-	NMNAT1_000029	-	-	-	Germline	yes	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.10035733G>T	g.9975675G>T	-	-	NMNAT1_000011	-	-	-	Germline	yes	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.10035739A>G	g.9975681A>G	-	-	NMNAT1_000030	-	-	-	Germline	yes	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.10035739A>G	g.9975681A>G	-	-	NMNAT1_000030	-	-	-	Germline	yes	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.10035739A>G	g.9975681A>G	-	-	NMNAT1_000030	-	-	-	Germline	yes	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.10035739A>G	g.9975681A>G	-	-	NMNAT1_000030	-	-	-	Germline	yes	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.10035749T>A	g.9975691T>A	-	-	NMNAT1_000038	-	-	-	Germline	yes	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.10035789G>A	g.9975731G>A	-	-	NMNAT1_000039	-	-	-	Germline	yes	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.10035789G>A	g.9975731G>A	-	-	NMNAT1_000039	-	-	-	Germline	yes	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.10035827T>G	g.9975769T>G	-	-	NMNAT1_000026	-	-	-	Germline	yes	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.10035827T>G	g.9975769T>G	-	-	NMNAT1_000026	-	-	-	Germline	yes	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.10035827T>G	g.9975769T>G	-	-	NMNAT1_000026	-	-	-	Germline	yes	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.10035827T>G	g.9975769T>G	-	-	NMNAT1_000026	-	-	-	Germline	yes	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.10041108G>T	g.9981050G>T	-	-	NMNAT1_000040	-	-	-	Germline	yes	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.10041153del	g.9981095del	-	-	NMNAT1_000041	-	-	-	Germline	yes	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.10041153del	g.9981095del	-	-	NMNAT1_000041	-	-	-	Germline	yes	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.10041228G>C	g.9981170G>C	-	-	NMNAT1_000042	-	-	-	Germline	yes	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.10041229G>C	g.9981171G>C	-	-	NMNAT1_000043	-	-	-	Germline	yes	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.10042370G>A	g.9982312G>A	-	-	NMNAT1_000024	-	-	-	Germline	yes	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.10042370G>T	g.9982312G>T	-	-	NMNAT1_000044	-	-	-	Germline	yes	-	-	-	-	Johan den Dunnen
+?/.	1	-	likely pathogenic	g.10042376C>G	g.9982318C>G	-	-	NMNAT1_000031	-	-	-	Germline	yes	-	-	-	-	Johan den Dunnen
+/.	1	-	pathogenic	g.10042377T>C	g.9982319T>C	468T>C	-	NMNAT1_000046	-	-	-	Germline	yes	-	-	-	-	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
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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.

7877 entries on 158 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
00000208	-	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)	-	A1BG, AARSD1, ABCB1, ABCB7, ABCC4, ABCD1, ABO, ABR, ACBD6, ACE2, ACLY, ACOT9, ACRC, ACSL3, ACSL4, ACTB, ACTC1, ACTG1, ACTG2, ACTL8, ACTN1, ADAMTS2, ADAMTSL1, ADAMTSL3, ADARB2, ADCK2, ADCY3, ADCY4, ADCY5, ADIPOR2, ADRA1D, ADRBK1, AFF2, AGPHD1, AIFM1, AKAP14, AKT3, ALAS2, ALG13, ALOX12P2, AMELX, AMOT, ANK2, ANKH, ANP32A, AP1S2, APCDD1L, APLN, APOO, APOOL, ARHGAP36, ARHGAP4, ARHGAP6, ARHGEF6, ARHGEF9, ARID2, ARL13B, ARMC4, ARMCX2, ARMCX5, ARMCX5-GPRASP2, ARNTL, ARR3, ARSD, ARSE, ARSF, ARSH, ARVCF, ARX, ASB11, ASB9, ASB9P1, ASTN2, ATG14, ATG4A, ATP11C, ATP1B4, ATP2B3, ATP2B4, ATP6AP1, ATP6AP2, ATP7A, ATP9A, ATP9B, ATPBD4, ATR, ATRX, AVPR2, AWAT1, AWAT2, AXDND1, B9D1, BAI1, BAIAP3, BANP, BCAP31, BCAS3, BCAS4, BCAT1, BCOR, BCORL1, BCORP1, BDP1, BEND2, BEND6, BEX2, BEX4, BEX5, BGN, BICC1, BLCAP, BLVRA, BMP15, BMP7, BMX, BRE, BRSK2, BRWD3, BTBD7, BTK, C11orf31, C14orf159, C1orf146, C1orf21, C2CD2, C2orf54, C2orf61, C4orf27, C4orf45, C4orf46, C5orf42, C6orf106, C7orf50, CA5B, CA5BP1, CACNA1B, CACNA1C, CACNA1D, CACNA1F, CACNA1I, CACNA1S, CACNA2D3, CADPS2, CALD1, CAPN13, CAPN5, CAPN6, CAPN8, CASK, CBFA2T3, CCBL2, CCDC102B, CCDC112, CCDC12, CCDC120, CCDC158, CCDC18, CCDC22, CCNB3, CCND1, CD209, CD81, CD99L2, CDC42EP1, CDH23, CDK16, CDK18, CDKAL1, CDKL5, CDYL2, CELF4, CENPI, CERK, CERS1, CETN2, CFP, CHM, CHRDL1, CHST11, CHST7, CHST8, CITED1, CLCN4, CLCN5, CLDN14, CLIC4, CLMP, CLSTN2, CMIP, CMTM8, CNGA2, CNKSR2, CNKSR3, CNOT6, CNTN5, COL20A1, COL4A1, COL4A3BP, COL4A5, COL4A6, COL5A2, CPNE3, CPXCR1, CROCCP2, CRTAC1, CSF1R, CSGALNACT1, CSMD1, CSRP1, CSTF2, CSTF2T, CT45A5, CT45A6, CTAG2, CTIF, CTNNA1, CTNNA3, CTPS2, CTU1, CUL4B, CXorf1, CXorf24, CXorf26, CXorf36, CXorf38, CXorf40A, CXorf48, CXorf56, CXorf58, CXorf59, CXorf61, CXorf65, CXorf67, CXXC1, CXXC1P1, CYBB, CYP2C18, CYP4F11, CYP4F3, CYSLTR1, DAB1, DACH2, DBF4B, DCAF12, DCAF8L1, DCC, DCX, DDX26B, DDX3Y, DDX43, DDX59, DEPTOR, DGKD, DGKH, DGKK, DIAPH2, DIP2C, DKC1, DLG2, DLG3, DLG3-AS1, DLGAP1, DLGAP4, DMD, DNAH2, DNAH9, DNAJC10, DNASE1L1, DNHD1, DOCK11, DOCK2, DOCK3, DPPA3, DRP2, DUOX2, DUSP18, DUSP6, DUSP9, DYNLT3, EBP, ECHDC3, ECT2L, EDA, EDA2R, EEA1, EFHC2, EFNB2, EGFL6, EGFL7, EIF1AY, EIF2C2, EIF2S3, EIF3K, ELF4, ELF5, ENOSF1, ENOX2, EPHB1, ERBB4, ERCC8, ERI3, ERICH1, ERLIN2, ERO1LB, ESX1, EVI5, EZR, F2RL3, F8, FAAH2, FAM102A, FAM104B, FAM120C, FAM122C, FAM123B, FAM127B, FAM127C, FAM133A, FAM133CP, FAM155B, FAM189A1, FAM47B, FAM47C, FAM57B, FAM58A, FAM70A, FAM82A1, FAM9B, FANCB, FANCC, FAR1, FARP1, FARS2, FAT3, FATE1, FER, FGD2, FGF13, FGF14, FGF2, FHL1, FIG4, FIGF, FLNA, FLNB, FMN1, FMR1, FMR1-AS1, FMR1NB, FOXO3, FOXO4, FOXO6, FOXP3, FOXR2, FRMD7, FRMPD4, FTCD, FTH1P18, FTSJ1, FTX, FUBP3, FUNDC1, FUNDC2P2, GAB3, GABRA3, GABRE, GABRQ, GAGE2D, GALNT10, GALNTL6, GAS2L3, GATA1, GDF1, GDI1, GDI2, GDPD2, GDPD5, GEMIN8P4, GFPT1, GJB2, GK, GLB1, GLDN, GLIS1, GLOD5, GLRA1, GLRA2, GLRA3, GLUD1, GLUD2, GNAQ, GNL3L, GPC3, GPC4, GPC6, GPKOW, GPM6B, GPR101, GPR112, GPR133, GPR143, GPR173, GPR174, GPR34, GPR50, GPR64, GPRASP1, GPRASP2, GRB10, GRB2, GRIA1, GRIA3, GRIA4, GRIK3, GRIK4, GRIN2A, GRIPAP1, GRK5, GRPR, GSPT1, GSTA1, GTF3A, GUCY2D, GUCY2F, GXYLT2, GYG2, H2BFM, H2BFWT, H2BFXP, HAUS7, HCFC1, HDAC6, HDAC8, HDX, HEPH, HHIPL1, HIF3A, HIVEP3, HM13, HMGB3, HMGN1, HMGN5, HNRNPA1, HNRNPA1P10, HNRNPD, HNRNPH1, HNRNPH3, HPRT1, HS6ST2, HS6ST2-AS1, HTATSF1, HTR2C, HTRA3, IDS, IFI16, IGLON5, IGSF1, IKBKAP, IL13RA1, IL1RAPL1, IL1RAPL2, IL28RA, IL2RA, IL2RG, ILVBL, IMPDH1, INE1, INE2, INTS9, IPMK, IQCH, IQGAP2, IQSEC1, IQSEC2, IQSEC3, IRAK1, ISPD, ITGA11, ITGAM, ITGB1BP2, ITGB2, ITGB4, ITSN2, JAKMIP1, JHDM1D, JPX, KAL1, KAZN, KCND1, KCNE1L, KCNG3, KCNN3, KCNQ3, KCNQ5, KCNU1, KDM4C, KDM5C, KDM5D, KDM6A, KIAA0146, KIAA0513, KIAA1210, KIAA1524, KIAA1751, KIAA1841, KIAA2022, KIF21B, KIF4A, KIF4B, KIF6, KIRREL, KIRREL3, KLF8, KLHL13, KLHL15, KLHL20, KLHL29, KLHL30, KLHL4, KLHL5, KPNA1, KRT16, KRT83, L1CAM, LACE1, LAMC3, LAMP2, LAPTM4B, LARGE, LAS1L, LDOC1, LGR6, LHFPL1, LHPP, LIMA1, LIN52, LINC00086, LINC00087, LINC00242, LINC00251, LINC00269, LINC00442, LINC00469, LINC00574, LONRF3, LOXHD1, LOXL2, LPAR4, LRBA, LRCH2, LRFN2, LRRC20, LRRC28, LUZP4, MACROD1, MAD1L1, MAEA, MAGEA11, MAGEA12, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MAGEC1, MAGEC2, MAGEC3, MAGED1, MAGED2, MAGI2, MAGIX, MAGT1, MAML3, MAMLD1, MAN1C1, MAN2A1, MAOB, MAP2K5, MAP2K6, MAP3K15, MAPKAP1, MAST2, MAU2, MBTPS2, MCF2, MCPH1, MDGA1, MDGA2, ME3, MECP2, MED12, MED14, MEGF6, MFI2, MGAT5B, MICAL2, MID1, MID1IP1, MIPEP, MIR548AC, MLF1IP, MLPH, MMGT1, MORF4L2, MORF4L2-AS1, MPP1, MS4A15, MSH6, MSI2, MSL2, MSL3, MSL3P1, MSN, MTMR1, MTMR8, MTOR, MTUS2, MUM1L1, MXRA5, MYH10, MYO10, MYO7A, MYO9B, MYRIP, NACC2, NAP1L3, NAP1L6, NAV2, NCOR2, NDST3, NDUFA1, NDUFA10, NEGR1, NEK10, NELL1, NFAM1, NGF, NGLY1, NHS, NHSL2, NKAP, NKAPL, NKAPP1, NKRF, NLGN2, NLGN3, NLGN4X, NLGN4Y, NLRP2, NLRP7, NONO, NOX1, NR5A2, NRG2, NRK, NSDHL, NSMAF, NSUN4, NTM, NTN4, NUBPL, NUDT10, NUDT4P1, NUP62CL, NUP85, NXF2, NXF2B, NXF3, NXF4, NXF5, NYX, OBSCN, OCRL, ODF3, ODZ1, ODZ2, ODZ4, OFD1, OGFOD1, OGT, OPHN1, OPN1LW, ORC3, OTC, OTUD5, P2RY10, PABPC1, PABPC1L2A, PABPC1L2B, PABPC4, PABPC5, PACSIN1, PAGE1, PAGE2, PAGE4, PAGE5, PAK1, PAK3, PASD1, PCBP3, PCDH11X, PCDH11Y, PCDH19, PCSK1N, PCSK6, PCYT1B, PDE11A, PDE1B, PDE3B, PDHA1, PDK3, PDZD11, PDZD2, PDZD4, PEX11A, PFKFB1, PFKFB3, PGAM1, PGAM1P5, PGK1, PGM2L1, PHACTR1, PHEX, PHF16, PHF20, PHF6, PHF8, PHKA1, PHKA2, PHLPP2, PIGA, PIGK, PIH1D1, PIK3R3, PIM2, PIN4, PIP5K1C, PIR, PJA1, PJA2, PKD1L3, PKNOX2, PKP2, PLA2G6, PLAC1, PLCD3, PLEKHH2, PLP1, PLS3, PLXNA1, PLXNA2, PLXNA4, PLXNB1, PLXNB3, PNCK, PNLIPRP3, PNMA3, PNMA5, PNPLA4, POF1B, POGZ, POLA1, POLR2D, PORCN, PPEF1, PPFIA4, PPFIBP1, PPP6C, PPP6R3, PQBP1, PRCP, PRDM15, PRDX4, PRDX6, PRHOXNB, PRIM2, PRKAG2, PRKCA, PRKCE, PRKCQ, PRKG1, PRKX, PRKY, PRPS1, PRPS1L1, PRPS2, PRR5-ARHGAP8, PRRG1, PRRG3, PRRX2, PRSS55, PSMD10, PTCHD1, PTGES3L-AARSD1, PTPRD, PTPRT, PXN, PXN-AS1, PZP, QPCT, RAB11FIP5, RAB30, RAB31, RAB36, RAB3B, RAB41, RAB9BP1, RAC2, RAD51B, RAI1, RAI2, RAP2C, RASGRF1, RASSF2, RBBP7, RBBP9, RBFOX1, RBFOX3, RBM10, RBM3, RBMX, RBMXL1, RBMXL2, REEP5, RELB, RELN, RENBP, REPS2, REV1, RFX8, RGAG1, RGAG4, RGN, RGS7, RGS7BP, RHO, RHOH, RIBC1, RIBC2, RIMBP2, RMDN2-AS1, RNF113B, RNF216, RNF220, RP2, RPGR, RPH3AL, RPL10, RPL36AL, RPL39, RPS26, RPS4X, RPS6KA3, RPS6KA6, RRAGB, RRBP1, RS1, RSF1, RTN4RL1, RUFY4, RUSC2, SAGE1, SAMD11, SAT1, SATL1, SCAF4, SCML2, SCN4B, SDCCAG8, SDK2, SEMA4D, SEPT6, SERPINA7, SETD3, SGCD, SGSM2, SH2D1A, SH3BGR, SH3BGRL, SH3KBP1, SH3RF2, SHANK2, SHC4, SHISA9, SHROOM2, SHROOM3, SHROOM4, SIGLEC1, SIGLEC9, SIPA1L3, SLC12A3, SLC12A8, SLC22A20, SLC24A4, SLC25A14, SLC25A4, SLC25A43, SLC25A5, SLC25A53, SLC27A4, SLC30A7, SLC35A2, SLC37A1, SLC38A3, SLC38A5, SLC6A1, SLC6A11, SLC6A14, SLC7A10, SLC7A3, SLC8A1, SLC9A3, SLC9A6, SLC9A7P1, SLC9A9, SLITRK2, SLITRK4, SLMAP, SMARCA1, SMARCA5, SMARCD3, SMC1A, SMCHD1, SMEK2, SMEK3P, SMG6, SMPX, SMTN, SNIP1, SNX16, SNX9, SORBS1, SORCS2, SOX21, SOX3, SPANXA2-OT1, SPANXN1, SPANXN3, SPANXN4, SPANXN5, SPATS2, SPECC1, SPIN1, SPIN3, SPTBN4, SRGAP1, SRP19, SRPK3, SRPX, SRPX2, SRR, SSR4, SSX1, SSX3, SSX5, SSX6, SSX7, SSX8, ST3GAL3, ST5, STAG1, STAG2, STARD8, STAU2, STIM1, STIM2, STK25, STMN1, STS, SUCLA2, SULF2, SULT2B1, SUMO2, SUMO4, SUV39H1, SUV420H2, SVIL, SYAP1, SYN1, SYN3, SYNE1, SYNE2, SYP, SYTL4, SYTL5, TAB2, TAB3, TADA2B, TAF1, TAF1L, TAF7L, TAF9B, TAS1R3, TAZ, TBC1D22B, TBC1D25, TBC1D4, TBC1D8B, TBL1X, TBL1Y, TBX22, TCEAL3, TCEAL6, TCEANC, TCERG1L, TCF7L1, TCF7L2, TCTEX1D2, TDGF1, TDGF1P3, TEK, TERT, TEX11, TEX13A, TEX14, TEX28, TFDP3, TFE3, TG, TGFBR2, TGIF2LX, TGM3, TGM4, THOC2, THSD7A, TIMM17B, TIMP1, TIMP2, TKTL1, TLR7, TLR8, TMCO4, TMEM117, TMEM131, TMEM135, TMEM164, TMEM185A, TMEM27, TMEM35, TMEM47, TMEM51, TMEM92, TMLHE, TMLHE-AS1, TMOD1, TMSB15A, TMSB15B, TMSB4X, TMTC2, TMX2-CTNND1, TNIP1, TNMD, TP73, TPCN2, TRAF1, TRAPPC9, TREH, TRMT2B, TRMT61A, TRO, TRPC4, TRPC5, TRPV6, TSC22D3, TSHR, TSPAN17, TSPAN32, TSPAN7, TSPEAR, TTC26, TTC3, TTLL11, TTLL5, TTPAL, TXLNG, UACA, UBA1, UBA6-AS1, UBE2A, UBE2E2, UBE2G1, UBE2NL, UBQLN1, ULK4, UMPS, UNC13C, UNC5B, UNC93A, UPF3B, UPRT, USP11, USP22, USP26, USP36, USP51, USP9X, USP9Y, UTY, VBP1, VCX, VCX2, VCX3A, VCX3B, VDR, VENTX, VENTXP7, VKORC1L1, VMA21, VOPP1, VPS13B, VPS53, VSIG1, VSTM2B, VSTM5, WARS2, WAS, WASF2, WBP2NL, WDR13, WDR25, WDR45, WFS1, WNK3, WNT2, WNT7B, WRN, WWC3, XAGE3, XG, XIAP, XIST, XKRX, YIPF6, YY2, ZBTB16, ZBTB32, ZBTB33, ZBTB46, ZC3H12B, ZCCHC18, ZCCHC5, ZDHHC14, ZDHHC15, ZDHHC9, ZFP41, ZFX, ZFY, ZIC2, ZKSCAN2, ZMAT1, ZMYM3, ZNF169, ZNF180, ZNF182, ZNF185, ZNF221, ZNF275, ZNF280A, ZNF280B, ZNF280C, ZNF280D, ZNF300, ZNF320, ZNF407, ZNF41, ZNF449, ZNF497, ZNF525, ZNF547, ZNF556, ZNF582, ZNF585A, ZNF585B, ZNF609, ZNF618, ZNF630, ZNF673, ZNF674, ZNF71, ZNF711, ZNF75A, ZNF75D, ZNF768, ZNF81, ZNF816-ZNF321P, ZNF827, ZRSR2, ZSCAN20, ZXDB, ZXDC	6369	1	Yu Sun
00000209	-	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)	-	A1BG, A2LD1, AAK1, AARSD1, ABCB1, ABCB7, ABCC6, ABCD1, ABHD6, ABO, ACBD6, ACE2, ACOT9, ACSBG1, ACSL4, ACTB, ACTG1, ACTG2, ACTL8, ACTRT2, ADAMTS12, ADAMTSL1, ADAMTSL3, ADCY3, ADCY5, ADCY7, ADIPOR2, ADRA1D, ADRBK1, AFF2, AGBL4, AIFM1, AK5, AKAP14, AKAP4, ALAS2, ALK, AMELX, AMOT, ANK2, ANP32A, AP1S2, AP2A2, APCDD1L, APLN, APOO, APOOL, APP, ARHGAP15, ARHGAP20, ARHGAP36, ARHGAP4, ARHGAP6, ARHGEF3, ARHGEF6, ARHGEF9, ARID4B, ARL13A, ARL13B, ARMC4, ARMCX2, ARMCX5, ARMCX5-GPRASP2, ARNTL, ARPC1A, ARR3, ARSD, ARSE, ARSF, ARSH, ARX, ASB11, ASB9, ASCC2, ASTN1, ASTN2, ATG14, ATG4A, ATP11C, ATP13A5, ATP1B4, ATP2B2, ATP2B3, ATP2B4, ATP6AP1, ATP6AP2, ATP7A, ATPBD4, ATR, ATRX, ATXN10, AVPR2, AWAT1, AWAT2, AXDND1, AZI1, B9D1, BAI3, BCAP31, BCAS3, BCAT1, BCOR, BCORL1, BDP1, BEND2, BEND6, BEX2, BEX4, BEX5, BGN, BHLHB9, BICC1, BIRC8, BLVRA, BMP15, BMP8A, BMX, BRSK2, BRWD3, C11orf49, C11orf9, C14orf159, C19orf18, C1orf146, C1orf21, C2orf54, C4orf27, C4orf32, C6orf106, C9orf171, CA5B, CA5BP1, CACNA1C, CACNA1D, CACNA1F, CACNA1I, CACNA1S, CADPS2, CAMTA1, CANT1, CAPN6, CASK, CCBL2, CCDC109B, CCDC112, CCDC12, CCDC120, CCDC158, CCDC18, CCDC22, CCDC85A, CCL17, CCNB3, CCND1, CCNF, CD209, CD40LG, CD81, CD99L2, CDH10, CDH3, CDK16, CDK18, CDYL, CDYL2, CECR3, CELF4, CELP, CENPI, CETN2, CFDP1, CFP, CHKB, CHKB-CPT1B, CHM, CHORDC1, CHRDL1, CHST7, CITED1, CLCN4, CLCN5, CLDN14, CLDN2, CLIC5, CLIP2, CLMP, CMIP, CNKSR3, CNOT6, CNTN3, CNTNAP2, COBLL1, COL20A1, COL23A1, COL28A1, COL4A5, COL4A6, CPA5, CPNE5, CPT1B, CPXCR1, CREBBP, CSAG1, CSAG4, CSMD2, CSRP1, CSTF2, CSTF2T, CT45A5, CT45A6, CTAG2, CTIF, CTNNA1, CTNND2, CTNS, CTPS2, CTSB, CTU1, CUL4B, CXorf1, CXorf24, CXorf26, CXorf36, CXorf38, CXorf40A, CXorf40B, CXorf48, CXorf56, CXorf57, CXorf58, CXorf59, CXorf61, CXorf65, CXorf66, CXorf67, CXXC1P1, CYHR1, CYP2C18, CYP4F11, CYSLTR1, DAB1, DACH2, DCAF8L1, DCC, DCX, DDX26B, DDX3X, DDX3Y, DDX43, DGKD, DGKK, DIAPH2, DKC1, DLC1, DLG3, DLG3-AS1, DLG5, DLGAP1, DMD, DMRT3, DNAH2, DNAJC10, DNAJC17, DNASE1L1, DNHD1, DOCK10, DOCK11, DOCK3, DOCK5, DPP6, DPPA3, DRP2, DUOX2, DUSP18, DUSP9, DUXA, DYNLT3, DYSF, EBF1, EBP, ECEL1P2, ECT2L, EDA, EDA2R, EEA1, EFHC2, EFNB1, EFNB2, EGFL6, EGFLAM, EHD4, EIF1AX, EIF2S3, EIF3H, EIF5A, ELAC2, ELF4, ELN, ENOX2, ENPEP, EPB41L4B, EPHB1, ERCC8, ERLIN2, ESX1, EYA3, EZR, F5, F8, FAAH2, FAM104B, FAM120C, FAM122B, FAM122C, FAM127B, FAM127C, FAM133A, FAM155B, FAM175A, FAM178B, FAM188B, FAM20B, FAM47B, FAM47C, FAM50B, FAM58A, FAM58BP, FAM70A, FAM83H, FAM91A1, FAM9B, FANCB, FANCC, FARP1, FARS2, FAS, FAT3, FATE1, FCGBP, FER, FGD1, FGD2, FGD5, FGF13, FGF14, FGF9, FHL1, FIGF, FLNA, FLNB, FMN1, FMR1, FMR1NB, FOXO4, FOXP3, FOXR1, FOXR2, FRMD7, FRMPD4, FTCD, FTH1P18, FTSJ1, FTX, FUNDC1, FUNDC2P2, FZD2, G0S2, GAB3, GABRA3, GABRE, GABRQ, GAGE12I, GAGE2B, GAGE2D, GALNT10, GALNT9, GALNTL6, GANC, GAS2L3, GATA1, GDI1, GDI2, GDPD2, GDPD5, GEMIN8P4, GFPT1, GJD4, GK, GK3P, GLB1, GLDN, GLI2, GLIS1, GLOD5, GLRA1, GLRA2, GLRA3, GLT1D1, GLUD1, GMDS, GNAO1, GNG7, GNL3L, GPC3, GPC4, GPC6, GPKOW, GPM6B, GPR101, GPR112, GPR143, GPR173, GPR174, GPR34, GPR50, GPR64, GPRASP1, GPRASP2, GRB2, GRIA1, GRIA3, GRIA4, GRIK3, GRIN2A, GRIPAP1, GRM6, GRPR, GSPT1, GSTA1, GUCY2F, GXYLT2, GYG2, H2BFM, H2BFWT, H2BFXP, HAAO, HABP2, HAUS7, HCFC1, HDAC4, HDAC6, HDAC8, HDLBP, HDX, HELZ, HEPH, HFM1, HGS, HHIPL1, HHLA2, HMGB3, HMGN1, HMGN5, HMGXB3, HNRNPA1, HNRNPA1L2, HNRNPA1P10, HNRNPH1, HNRNPH2, HNRNPH3, HPRT1, HS3ST3B1, HS6ST2, HS6ST2-AS1, HSFY1, HTATSF1, HTATSF1P2, HTR2C, HTR4, IDS, IFI16, IGBP1, IGLON5, IGSF1, IL13RA1, IL17RC, IL1RAPL1, IL1RAPL2, IL2RG, IMMP2L, INE1, INE2, INMT-FAM188B, INTS9, IQSEC2, IRAK1, ISPD, ITPK1, ITPR1, ITSN2, JAKMIP1, JAZF1, JHDM1D, JPX, KAL1, KCND1, KCNE1L, KCNG1, KCNG3, KCNIP1, KCNJ12, KCNK5, KCNMA1, KCNQ5, KCNU1, KCTD17, KDM4B, KDM4C, KDM5C, KDM6A, KHSRP, KIAA0146, KIAA1210, KIAA2022, KIF13A, KIF1A, KIF4A, KIF4B, KLF8, KLHL12, KLHL13, KLHL15, KLHL2, KLHL4, KLHL5, KSR2, L1CAM, LACE1, LAD1, LANCL3, LAPTM4B, LARGE, LAS1L, LCMT1, LDOC1, LHFPL1, LHPP, LIMA1, LIN52, LINC00086, LINC00087, LINC00269, LIPA, LONRF3, LOXHD1, LOXL2, LPAR4, LPCAT1, LPP, LRCH2, LRFN2, LRP1, LRP6, LRRC20, LRRC4B, LUZP4, LYPLA1, MACROD1, MAD1L1, MAGEA11, MAGEA12, MAGEA6, MAGEB1, MAGEB10, MAGEB2, MAGEB3, MAGEB4, MAGEC1, MAGEC2, MAGEC3, MAGED1, MAGED2, MAGI2, MAGIX, MAMLD1, MAN2A1, MAOB, MAP2K5, MAP2K6, MAP3K15, MAP3K9, MAP7D1, MAP7D3, MAPKAP1, MAU2, MBTPS2, MCF2, MDGA2, MECP2, MED12, MED14, MEI1, MFHAS1, MFI2, MGAT5B, MID1, MID1IP1, MIPEP, MLIP, MLPH, MMGT1, MORF4L2, MORF4L2-AS1, MOSPD2, MPP1, MS4A15, MSH6, MSI2, MSL3, MSL3P1, MSN, MSRA, MTMR1, MTMR8, MTOR, MTPAP, MTUS2, MUM1L1, MXRA5, MYH10, MYH11, MYH14, MYH7B, MYO10, MYO15A, MYO18B, MYOF, MYOM3, MYPN, MYT1L, NACC2, NAP1L3, NAP1L6, NAV1, NBAS, NBEA, NBPF1, NCKAP5L, NCOR2, NEDD4L, NEK10, NELL1, NGEF, NGF, NGLY1, NHS, NHSL2, NKAP, NKAPL, NKAPP1, NKD2, NKRF, NLGN1, NLGN2, NLGN3, NLGN4X, NLRP2, NONO, NOX1, NPAS3, NR1H3, NRG1, NRK, NRXN3, NSDHL, NTM, NTN4, NTRK2, NUBPL, NUDT10, NUDT4P1, NUP62CL, NUP85, NXF1, NXF2, NXF2B, NXF3, NXF4, NXF5, NYX, OBSCN, OCRL, ODZ1, ODZ4, OFD1, OGT, OLA1, OPHN1, OPN1LW, OR6S1, ORC3, OTC, OTUD5, P2RY10, PABPC1L2A, PABPC1L2B, PABPC5, PAGE1, PAGE2, PAGE4, PAGE5, PAK1, PAK3, PARK2, PASD1, PAX2, PAX8, PCDH11X, PCDH11Y, PCDH19, PCYT1B, PDCD10, PDE11A, PDHA1, PDK3, PDS5A, PDZD2, PDZD4, PDZRN3, PEX11A, PEX14, PFKFB1, PFKFB2, PGAM1, PGAM1P5, PGK1, PGM2L1, PHEX, PHF16, PHF6, PHF8, PHKA1, PHKA2, PHKA2-AS1, PHLPP2, PICALM, PIEZO1, PIGA, PIGK, PIK3R3, PIM2, PIM3, PIN4, PIR, PJA1, PKD1L2, PKD1L3, PKN1, PKN3, PKNOX2, PKP2, PLAC1, PLCD3, PLEKHA7, PLEKHH2, PLP1, PLS3, PLXNA1, PLXNA2, PLXNA4, PLXNB3, PMS2P3, PNCK, PNLIPRP1, PNLIPRP3, PNMA3, PNMA5, PNMA6C, PNPLA4, POF1B, POGZ, POLA1, PORCN, POTEF, PP2D1, PPEF1, PPFIBP1, PPIEL, PPP1R16B, PPP2R2C, PQBP1, PRDM16, PRDX4, PREX1, PRIM2, PRKCB, PRKCQ, PRKG1, PRKX, PRPS1, PRPS2, PRR5, PRRG1, PRRG3, PRRX2, PSD4, PSMD10, PTCHD1, PTCRA, PTGES3L-AARSD1, PTMS, PTPRD, PTPRH, PTPRN2, PTPRT, PXDNL, PZP, RAB27A, RAB30, RAB40B, RAB40C, RAB41, RAB9BP1, RABL2A, RAD18, RAI1, RAI2, RAMP3, RAP2C, RBBP7, RBFOX1, RBM3, RBMX, RBMXL1, RBMXL2, RBPMS, RCAN3, RCOR1, REEP5, RELN, RENBP, REPS2, RFTN1, RGAG1, RGAG4, RGN, RGS6, RGS7, RGS7BP, RHOXF2B, RIBC1, RNF113B, RNF144B, RNF181, RNF220, ROBO2, ROR1, RP2, RPGR, RPL10, RPL36A-HNRNPH2, RPL39, RPS26, RPS4X, RPS6KA2, RPS6KA6, RRAGB, RS1, RUSC2, RUVBL1, RYR3, S100G, SAGE1, SAMD12, SAMD3, SARNP, SART3, SAT1, SATL1, SCML2, SCRIB, SDC1, SDK1, SDK2, SEC14L5, SEPT6, SERINC5, SERPINA7, SETD3, SFT2D1, SH2D1A, SH3BGR, SH3BGRL, SH3KBP1, SH3RF2, SHANK2, SHCBP1L, SHISA9, SHROOM2, SHROOM3, SHROOM4, SIGLEC9, SIPA1L3, SLC12A3, SLC12A8, SLC22A15, SLC24A3, SLC25A14, SLC25A37, SLC25A43, SLC25A5, SLC25A53, SLC26A9, SLC30A2, SLC30A7, SLC35A2, SLC37A1, SLC38A5, SLC6A14, SLC7A3, SLC9A6, SLC9A7P1, SLC9A9, SLCO2A1, SLITRK2, SLITRK3, SLITRK4, SLMAP, SMARCA5, SMC1A, SMEK3P, SMG6, SMOX, SMPD3, SMPX, SMYD3, SNIP1, SNX16, SNX29, SNX33, SORCS2, SOX1, SOX21, SOX3, SPANXA2-OT1, SPANXN1, SPANXN3, SPANXN4, SPANXN5, SPIN1, SPIN3, SPIRE1, SPOCK1, SPOCK2, SPSB1, SPTAN1, SRGAP1, SRGAP3, SRP19, SRPK3, SRPX, SRPX2, SRR, SSR4, SSX1, SSX3, SSX4, SSX5, SSX6, SSX7, SSX8, ST3GAL3, STAG2, STARD8, STAU2, STIM1, STIM2, STK39, STMN1, STS, SUMO1, SUMO2, SUMO4, SUV39H1, SYAP1, SYN1, SYN3, SYP, SYT16, SYTL4, SYTL5, TAB2, TAB3, TAF1, TAF1L, TAF4, TAF7L, TAZ, TBC1D22A, TBC1D25, TBC1D4, TBL1X, TBX22, TCEAL3, TCEAL6, TCEANC, TCF7L2, TCTEX1D2, TDGF1, TDGF1P3, TEAD1, TEK, TERT, TEX11, TEX13A, TEX14, TEX28, TFDP1, TFDP3, TFE3, TFF1, TGFBR2, TGIF2LX, TGM3, THADA, THOC2, THSD7A, TIAM1, TIMM17B, TIMP1, TKTL1, TLR8, TMEM117, TMEM131, TMEM135, TMEM164, TMEM178B, TMEM185A, TMEM222, TMEM35, TMEM47, TMEM63C, TMEM65, TMLHE, TMOD1, TMSB15A, TMSB15B, TMSB4X, TMTC2, TNIP1, TNMD, TOLLIP, TPCN2, TRAF1, TREH, TRIO, TRO, TRPC5, TRPV6, TSC22D3, TSHR, TSPAN7, TTC26, TTC7B, TTPAL, TXLNG, TXNDC5, UBA1, UBA6-AS1, UBAC2, UBE2A, UBE2G1, UBE2NL, UBQLN1, UNC13C, UNC5B, UNC5C, UPF3B, UPRT, UROC1, USP11, USP22, USP26, USP34, USP51, USP9X, USP9Y, UTP14A, UTY, VBP1, VCX, VCX2, VCX3A, VCX3B, VDAC1, VDR, VENTX, VENTXP7, VMA21, VPS13B, VPS53, VSIG1, VSTM2B, VWA2, WARS2, WAS, WBP2NL, WBSCR17, WDR13, WDR25, WDR31, WDR44, WDR45, WDR62, WNK3, WNT7B, WRN, WSCD2, WWC3, WWP2, XAGE3, XG, XIAP, XIST, XKRX, XPNPEP2, XPR1, YIPF6, YY2, ZAR1L, ZBED4, ZBTB32, ZBTB33, ZBTB46, ZC3H12B, ZC3H12C, ZCCHC18, ZCCHC5, ZDHHC14, ZDHHC15, ZDHHC9, ZFX, ZIC2, ZMAT1, ZMYM3, ZNF135, ZNF157, ZNF169, ZNF182, ZNF185, ZNF268, ZNF275, ZNF280A, ZNF280B, ZNF280C, ZNF280D, ZNF300, ZNF300P1, ZNF320, ZNF331, ZNF33A, ZNF347, ZNF354C, ZNF37A, ZNF397, ZNF407, ZNF41, ZNF449, ZNF473, ZNF525, ZNF547, ZNF558, ZNF567, ZNF57, ZNF582, ZNF585A, ZNF585B, ZNF618, ZNF630, ZNF673, ZNF674, ZNF71, ZNF711, ZNF749, ZNF75A, ZNF75D, ZNF765, ZNF806, ZNF81, ZRSR2, ZXDB, ZXDC	6404	1	Yu Sun
00004128	-	-	F	no	Japan	-	>10y	-	-	-	CSS	brith 38w, weight 2340 g (SD -1.9), OFC 30.5 cm (SD -1.8); birth length length 45cm(-2.2); 5m-head, 11m-sit, 1y11m-walk; speak 1y7m; developmental delay, microcephaly; absent/hypoplastic fifth finger/toenails, hypertrichosis, abnormal/delayed dentition; mid facial hypoplasia, thick lips, everted lower lip, abnormal ears, high palate, ptosis, short philtrum; clinodactyly, short stature, sucking problems; small left kidney; generalized hypotonia; feeding problems esp. neonatal period; seizures (HP:0001250); prenatal growth retardation (HP:0001511); abnormal vision (HP:0000504); highly arched eyebrow (HP:0002553); long eyelashes (HP:0000527); flat (depressed/low) nasal bridge (HP:0005280); ;	SOX11	SOX11	1	1	Yoshinori Tsurusaki
00004129	-	-	F	-	India	-	>16y	-	-	-	CSS	mild developmental delay, microcephaly; absent/hypoplastic fifth finger/toenails, hypertrichosis, sparse scalp hair; everted lower lip, abnormal ears; absent/hypoplastic fifth phalanx (hand), absent/hypoplastic fifth phalanx (foot), clinodactyly, short stature; hypogonadotrophic hypogonadism, bilateral malrotated kidneys; retardation prenatal; highly arched eyebrow (HP:0002553);;	SOX11	SOX11	1	1	Yoshinori Tsurusaki
00004160	-	-	F	no	Italy	-	-	-	-	-	RTS2	see paper; two siblings with a mild phenotype, mainly restricted to the skin, ...	RECQL4	RECQL4	2	1	Elisa Adele Colombo
00004214	FamPatI1;CC00116	3-generation family, 9 affected (5F, 4M)	F	no	Denmark	Danish	-	-	-	-	CTRCT	-	ACACA, UNC45B	ACACA, UNC45B	2	9	Lars Hansen
00010537	patient	-	F	yes	Italy	-	00y00m01d	-	-	-	COQ10D	see paper; ...	COQ2	COQ2	1	1	Leonardo Salviati
00011457	Fam2	couple, 3 pregnancies terminated following 20wk scan showing fetal abnormalities	?	no	United Kingdom (Great Britain)	mixed	00y	-	-	-	arthrogryposis	multiple pterigia, arthrogryposis, pulmonary hypoplasia, hydrops fetalis	RYR1	RYR1	2	3	Hana Lango-Allen
00011668	Pat22	large multi-generation family, 22 afecteds, unaffected heterozygote carriers	F	-	Reunion	white	-	-	-	-	EDS	birth length 38 cm; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis	B4GALT7	B4GALT7	1	22	Francois Cartault
00016142	-	-	?	?	Netherlands	white	-	-	-	-	CMH	originally diagnosed with hypertrophic cardiomyopathy	ACTN2, DSC2, LDB3, MYH7, MYPN, RYR2, TTN	ACTN2, DSC2, LDB3, MYH7, MYPN, RYR2, TTN	8	1	Terry Vrijenhoek
00016143	-	-	?	?	Netherlands	white	-	-	-	-	CMH	originally diagnosed with hypertrophic cardiomyopathy	MYH7, TAZ	MYH7, TAZ	4	1	Terry Vrijenhoek
00016308	patient 1	-	F	no	Germany	-	-	-	-	-	ID	see paper; ...	-	SETD5	2	1	Alexander Zink
00016309	patient 2	-	F	-	Germany	-	-	-	-	-	ID	see paper; ...	-	LCE4A, RBM24, SETD5	3	1	Alexander Zink
00016330	-	-	F	-	-	-	-	-	-	-	Healthy/Control	-	FLNA	FLNA	1	1	Lab Zuffardi
00016506	-	5 affected fetuses, from the same couple (unaffected heterozygous carrier), all terminated at 15-20 weeks gestation	-	no	United Kingdom (Great Britain)	-	00y00m00d	-	-	-	SRTD3	-	DYNC2H1	DYNC2H1	2	5	Hana Lango-Allen
00016592	Fam1	couple, 2 affected fetuses, both terminated at 15-20 weeks gestation	-	no	United Kingdom (Great Britain)	white European	00y00m00d	-	-	-	LCCS1	fetal akinesia syndrome (pterygia and joint contractures)	-	GLE1	2	2	Hana Lango-Allen
00016593	patient	-	M	yes	Turkey	Turkish	-	-	-	-	MCAP, NS	features: - megalencephaly - cerebellar tonsillar ectopia - abnormal thick corpus callosum - congenital somatic overgrowth - somatic asymmetry/hemihypertrophy - cutaneous capillary malformations: midline facial naevus flammeus, cutis marmorata - syndactyly - postaxial polydactyly - hypotonia - developmental delay - frontal bossing	AKT3, PIK3CA, PIK3R2	PIK3CA, PTPN11	2	1	Dennis Döcker
00016884	Family 1 - Case 1	Noonan syndrome	F	-	-	-	-	-	-	-	-	-	-	A2ML1, OR12D3	2	1	Lisenka Vissers
00016885	Family 2 - Case 2, 3 and 4	Noonan-like syndrome	?	-	-	-	-	-	-	-	-	-	A2ML1	A2ML1	1	3	Lisenka Vissers
00016886	Family 3 - case 5,6,7 and 8	Noonan(-like) syndrome	-	-	-	-	-	-	-	-	-	-	A2ML1	A2ML1	1	4	Lisenka Vissers
00016948	-	-	F	no	Germany	Europe	>02y11m	-	-	-	ID	postnatal growth failure; severe developmental delay; long curved eyelashes, thin arched eyebrows, broad nasal bridge, thin arched upper lip;delayed closure of the fontanels, delayed bone age, broad great toes, mild pectus carinatum; pulmonary artery stenosis, atrial septal defect, prolonged QT interval; truncal hypotonia, hypertonia of extremities; MRI brain borderline normal ventricle; self-hugging, repetitive hand movements; no genital abnormalities	NAA10	NAA10	1	1	Bernt Popp
00016949	-	-	M	no	Switzerland	-	>05y11m	-	-	-	ID	postnatal growth failure; severe developmental delay; prominent forehead, deep set eyes, long eyelashes, down slanting palpebral fissures, large ears, diasthema; small hands/feet, high arched palate, wide interdental spaces; no cardiac abnormalities; hypoplastic scrotum; truncal hypotonia, hypertonia of extremities, generalized epileptiform activity; MRI brain enlarged ventricles, reduced periventricular volume, gliotic changes; hyperactivity, auto-aggressive behaviour, hand biting, autistic features	NAA10	NAA10	1	1	Bernt Popp
00016979	-	5-generation family, 8 affected males, 7 unaffected heterozygous carrier females	M	no	United States	?	-	-	-	-	MRX;IDX	see paper; ...	IQSEC2	IQSEC2	1	8	Johan den Dunnen
00016980	-	5-generation family, 12 affected males, 5 unaffected heterozygous carrier females, 2 with learning problems	M	no	Australia	8	-	-	-	-	MRX;IDX	moderate to severe ID, seizures in some males from adolescence; female carriers with varying level IS; see paper ...	IQSEC2	IQSEC2	1	1	Johan den Dunnen
00016981	-	5-generation family, 12 affected males, 8 unaffected heterozygous carrier females	M	no	Australia	-	-	-	-	-	MRX;IDX	all affected males remained non-syndromic with general good health; 2 males (III6,IV22) developed psychiatric problems and V5 has infrequent seizures; carrier females were less academically ablecompared to their non-carrier siblings; majority carrier F are well (1 developed schizophrenia)	IQSEC2	IQSEC2	1	12	Johan den Dunnen
00017623	-	2-generation family, 1 affected, unaffected carrier fatehr	F	no	Italy	white	-	-	-	-	SWNTS1	-	LZTR1	LZTR1	1	2	Laura Papi
00017624	-	-	M	no	Italy	white	-	-	-	-	SWNTS1	-	LZTR1	LZTR1	1	1	Laura Papi
00017625	-	2-generation family, affected father/son	M	no	Italy	white	-	-	-	-	SWNTS1	-	LZTR1	LZTR1	1	2	Laura Papi
00017628	-	-	M	no	Italy	white	-	-	-	-	SWNTS1	-	LZTR1	LZTR1	1	1	Laura Papi
00017629	-	-	F	no	Italy	white	-	-	-	-	SWNTS1	-	LZTR1	LZTR1	1	1	Laura Papi
00017630	-	-	M	no	Italy	white	-	-	-	-	SWNTS1	-	LZTR1	LZTR1	1	1	Laura Papi
00017631	-	-	F	no	Italy	white	-	-	-	-	SWNTS1	-	-	LZTR1	1	1	Laura Papi
00017632	-	-	M	no	Italy	white	-	-	-	-	SWNTS1	-	LZTR1	LZTR1	1	1	Laura Papi
00017633	-	-	F	no	Italy	white	-	-	-	-	SWNTS1	-	LZTR1	LZTR1	1	1	Laura Papi
00017634	-	2-generation family, 2 affected brothers (1 not carrier) and unaffected carrier father	M	no	Italy	white	-	-	-	-	SWNTS1	-	LZTR1	LZTR1	1	2	Laura Papi
00017635	-	-	F	no	Italy	white	-	-	-	-	SWNTS1	-	LZTR1	LZTR1	1	1	Laura Papi
00017636	-	-	F	no	Italy	white	-	-	-	-	SWNTS1	-	LZTR1	LZTR1	1	1	Laura Papi
00017637	-	-	M	no	Italy	white	-	-	-	-	SWNTS1	-	LZTR1	LZTR1	1	1	Laura Papi
00017638	-	-	F	no	Italy	white	-	-	-	-	SWNTS1	-	LZTR1	LZTR1	1	1	Laura Papi
00017639	-	-	M	no	Italy	white	-	-	-	-	SWNTS1	-	LZTR1	LZTR1	1	1	Laura Papi
00017640	-	-	M	no	Italy	white	-	-	-	-	SWNTS1	-	LZTR1	LZTR1	1	1	Laura Papi
00017641	-	-	M	no	Italy	white	-	-	-	-	SWNTS1	-	LZTR1	LZTR1	1	1	Laura Papi
00017642	-	-	F	no	Italy	white	-	-	-	-	SWNTS1	-	LZTR1	LZTR1	1	1	Laura Papi
00017643	-	-	M	no	Italy	white	-	-	-	-	SWNTS1	-	LZTR1	LZTR1	1	1	Laura Papi
00017644	-	-	F	no	Italy	white	-	-	-	-	SWNTS1	-	LZTR1	LZTR1	1	1	Laura Papi
00017645	-	-	F	no	-	-	-	-	-	-	SWNTS1	-	LZTR1	LZTR1	1	1	Laura Papi
00017646	-	-	F	-	-	-	-	-	-	-	SWNTS1	-	LZTR1	LZTR1	1	1	Laura Papi
00017818	-	-	M	no	Spain	white	-	-	-	-	Crouzon	-	FGFR2	FGFR2	1	1	Karen E. Heath
00017819	-	-	F	-	Spain	white	-	-	-	-	Crouzon	-	FGFR2	FGFR2	1	1	Karen E. Heath
00017820	-	-	F	-	Spain	-	-	-	-	-	Pfeiffer	-	FGFR2	FGFR2	1	1	Karen E. Heath

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