All individuals with variants in gene ATM

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.

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.

4378 entries on 44 pages. Showing entries 1 - 100.

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

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00000037	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000054	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	ABL	see paper; …	1	1	Global Variome, with Curator vacancy
00000057	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00034774	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034775	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034776	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034777	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034778	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034779	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034780	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034781	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034782	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034783	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034784	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034785	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034786	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034787	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034788	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034789	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034790	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034791	-	-	-	-	-	Germany	-	-	-	-	-	?	clinically AT	1	1	Andreas Laner
00034792	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034793	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034794	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034795	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034796	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034797	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034798	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034799	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034800	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034801	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034802	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034803	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034804	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034805	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034806	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034807	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034808	-	-	-	-	-	Germany	-	-	-	-	-	?	clinically AT	1	1	Andreas Laner
00034809	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034810	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034811	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034812	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034813	-	-	-	-	-	Germany	-	-	-	-	-	?	clinically AT	1	1	Andreas Laner
00034814	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034815	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034816	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034817	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00034818	-	-	-	-	-	Germany	-	-	-	-	-	?	clinically AT	1	1	Andreas Laner
00034819	-	-	-	-	-	Germany	-	-	-	-	-	?	clinically AT	1	1	Andreas Laner
00045741	-	-	7 breast-ovarian cancer families (kConFab)	-	-	Australia;New Zealand	-	-	-	-	-	cancer, breast	-	1	7	kConFab - Heather Thorne
00045742	-	-	8 breast-ovarian cancer families (kConFab)	-	-	Australia;New Zealand	-	-	-	-	-	cancer, breast	-	1	8	kConFab - Heather Thorne
00045743	-	-	10 breast-ovarian cancer families (kConFab)	-	-	Australia;New Zealand	-	-	-	-	-	cancer, breast	-	1	10	kConFab - Heather Thorne
00045744	-	-	1 breast-ovarian cancer families (kConFab)	-	-	Australia;New Zealand	-	-	-	-	-	cancer, breast	-	1	1	kConFab - Heather Thorne
00054747	-	-	-	M	-	-	-	-	-	-	-	GIST	-	1	1	Pränatalmedizin & Genetik MVZ Nürnberg
00073133	-	ATX286	-	M	-	France	-	-	-	-	-	AT	-	2	1	Claire Guissart
00081417	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	1	1	Chris Kay
00103996	Vogelaar-059A	PubMed: Vogelaar 2017, Journal: Vogelaar 2017	54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer	-	-	-	-	-	-	-	-	cancer, gastric	diffuse-type or intestinal-type gastric cancer	2	1	Marjolijn JL Ligtenberg
00103997	Vogelaar-059B	PubMed: Vogelaar 2017, Journal: Vogelaar 2017	54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer	-	-	-	-	-	-	-	-	cancer, gastric	diffuse-type or intestinal-type gastric cancer	1	1	Marjolijn JL Ligtenberg
00104032	Vogelaar-741A	PubMed: Vogelaar 2017, Journal: Vogelaar 2017	54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer	-	-	-	-	-	-	-	-	cancer, gastric	diffuse-type or intestinal-type gastric cancer	1	1	Marjolijn JL Ligtenberg
00104033	Vogelaar-743A	PubMed: Vogelaar 2017, Journal: Vogelaar 2017	54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer	-	-	-	-	-	-	-	-	cancer, gastric	diffuse-type or intestinal-type gastric cancer	1	1	Marjolijn JL Ligtenberg
00104957	-	-	2-generation family, 2 affected children (F,M), 1 unaffected child, unaffected heterozygous carrier parents	F	yes	Russian Federation	white	-	-	-	-	AT	HP:0001260 Dysarthria;HP:0005407 Decreased number of CD4+ T cells;HP:0002837 Recurrent bronchitis; HP:0006254 Elevated alpha-fetoprotein;HP:0001251 Ataxia;HP:0000524 Conjunctival telangiectasia;HP:0008348 Immunoglobulin IgG2 deficiency	1	1	Jekaterina Shubina
00104958	-	-	2-generation family, 2 affected children (F,M), 1 unaffected child, unaffected heterozygous carrier parents	M	yes	Russian Federation	white	-	-	-	-	AT	HP:0008348 Immunoglobulin IgG2 deficiency; HP:0001251 Ataxia; HP:0006254 Elevated alpha-fetoprotein; HP:0005407 Decreased number of CD4+ T cells	1	1	Jekaterina Shubina
00104959	-	-	2-generation family, 2 affected children (F,M),1 unaffected child, unaffected heterozygous carrier parents. unaffected carrier child	F	yes	Russian Federation	white	-	-	-	-	Healthy/Control	-	1	1	Jekaterina Shubina
00104980	-	-	2-generation family, 2 affected children (F,M), 1 unaffected child, unaffected heterozygous carrier parents, unaffected mother.	F	?	Russian Federation	white	-	-	-	-	Healthy/Control	-	1	1	Jekaterina Shubina
00104981	-	-	2-generation family, 2 affected children (F,M),1 unaffected child, unaffected heterozygous carrier parents, unaffected father	M	-	Russian Federation	white	-	-	-	-	Healthy/Control	-	1	1	Jekaterina Shubina
00104982	-	-	2-generation family, 1 child (F) with Louis-Bar syndrome, unaffected heterozygous carrier parents. Child with ataxia-telangiectasia.	F	yes	Russian Federation	white	-	-	-	-	AT	HP:0008348 Immunoglobulin IgG2 deficiency;HP:0000524 Conjunctival telangiectasia; HP:0001251 Ataxia; HP:0006254 Elevated alpha-fetoprotein; HP:0002837 Recurrent bronchitis; HP:0005407 Decreased number of CD4+ T cells	1	1	Jekaterina Shubina
00104983	-	-	2-generation family, 1 child (F) with Louis-Bar syndrome, unaffected heterozygous carrier parents. Unaffected father	M	?	Russian Federation	white	-	-	-	-	Healthy/Control	-	1	1	Jekaterina Shubina
00104984	-	-	2-generation family, 1 child (F) with Louis-Bar syndrome, unaffected heterozygous carrier parents. Unaffected mother	F	?	Russian Federation	white	-	-	-	-	Healthy/Control	-	1	1	Jekaterina Shubina
00109566	F-303	PubMed: Gilad 1996, PubMed: Gilad 1998	-	-	-	Israel	Bedouin	-	-	-	-	AT	-	1	1	Patrick Concannon
00109567	-	PubMed: Stankovic 1998	-	-	-	-	-	-	-	-	-	AT	-	2	1	Patrick Concannon
00109568	-	PubMed: Byrd 1996; PubMed: Stankovic 1998	-	-	-	-	-	-	-	-	-	AT	-	2	1	Patrick Concannon
00109569	-	PubMed: Gilad 1996	Initiation codon changed to Thr	-	-	-	-	-	-	-	-	AT	-	1	1	Patrick Concannon
00109570	-	PubMed: Buzin 2003	Initiation codon changed to Thr	-	-	-	-	-	-	-	-	AT	-	2	1	Patrick Concannon
00109571	-	PubMed: Teraoka 1999; PubMed: Buzin 2003	-	-	-	-	-	-	-	-	-	AT	-	2	1	Patrick Concannon
00109572	-	PubMed: Buzin 2003	Initiation codon changed to Ile	-	-	-	-	-	-	-	-	AT	-	2	1	Patrick Concannon
00109573	Aa053	PubMed: Sandoval 1999	-	-	-	-	-	-	-	-	-	AT	-	1	1	Patrick Concannon
00109574	-	-	-	M	?	Pakistan	-	-	-	-	-	AT	-	1	1	Monica Martinez-Gallo
00109575	Aa005	PubMed: Sandoval 1999	-	-	-	-	-	-	-	-	-	AT	-	2	1	Patrick Concannon
00109576	-	PubMed: Mitui 2003	-	-	-	-	Iberian	-	-	-	-	AT	-	2	1	Patrick Concannon
00109577	-	PubMed: Teraoka 1999; PubMed: Becker-Catania 2000	-	-	-	-	-	-	-	-	-	AT	-	2	1	Patrick Concannon
00109578	F-191	PubMed: Gilad 1998	-	-	-	Israel	Bedouin	-	-	-	-	AT	-	1	1	Patrick Concannon
00109579	F-2084	PubMed: Gilad 1998	-	-	-	Israel	Bedouin	-	-	-	-	AT	-	1	1	Patrick Concannon
00109580	families	PubMed: Gilad 1996, PubMed: Hacia 1998	15 families	-	-	Morocco;Tunisia	Africa-N;jew	-	-	-	-	AT	-	1	15	Patrick Concannon
00109581	-	PubMed: Mitui 2003	-	-	-	-	Iberian	-	-	-	-	AT	-	2	1	Patrick Concannon
00109582	-	PubMed: Jeddane 2013	-	-	?	Morocco	-	-	-	-	-	AT	-	2	1	Patrick Concannon
00109583	-	PubMed: Magliozzi 2006	-	-	-	-	-	-	-	-	-	AT	-	2	1	Patrick Concannon
00109584	-	PubMed: Stankovic 1998	-	-	-	-	-	-	-	-	-	AT	-	2	1	Patrick Concannon
00109585	-	PubMed: Castellvi-Bel 1999	-	-	-	-	North-American	-	-	-	-	AT	-	1	1	Patrick Concannon
00109586	-	PubMed: Becker-Catania 2000	-	-	-	-	-	-	-	-	-	AT	-	1	1	Patrick Concannon
00109587	-	PubMed: Li and Swift 2000	-	-	-	-	-	-	-	-	-	AT	-	1	1	Patrick Concannon
00109588	-	PubMed: Li and Swift 2000	-	-	-	-	-	-	-	-	-	AT	-	1	1	Patrick Concannon
00109589	-	PubMed: Stankovic 1998	-	-	-	-	-	-	-	-	-	AT	-	2	1	Patrick Concannon
00109590	-	PubMed: Li and Swift 2000	-	-	-	-	-	-	-	-	-	AT	-	1	1	Patrick Concannon
00109591	-	PubMed: Li and Swift 2000	-	-	-	-	-	-	-	-	-	AT	-	1	1	Patrick Concannon
00109592	-	PubMed: Cavalieri 2006	-	-	-	-	-	-	-	-	-	AT	-	1	1	Patrick Concannon
00109593	-	-	-	-	-	-	-	-	-	-	-	AT	-	2	1	Kotoka Nakamura
00109594	Pat9	PubMed: Verhagen 2012	-	M	-	Netherlands	-	-	-	-	-	AT	-	2	1	Frans BL Hogervorst
00109595	Patv5;FamPat18I	PubMed: Verhagen 2009, PubMed: Verhagen 2012	family, 2 affected (F, M)	F	-	Netherlands	-	-	-	-	-	AT	-	1	2	Frans BL Hogervorst
00109596	DAAT5	PubMed: Laake 2000	-	-	-	Denmark	-	-	-	-	-	AT	-	2	1	Patrick Concannon
00109597	-	PubMed: Birrell 2005	-	-	-	-	-	-	-	-	-	AT	-	2	1	Patrick Concannon

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Global Variome shared LOVD

ATM (ataxia telangiectasia mutated)