All individuals with variants in gene TMEM67

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.

242 entries on 3 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3		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
00000031	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00028915	2-49 Pat4	PubMed: Kroes 2016	-	-	-	-	Europe-N	-	-	-	-	JBTS1	-	1	1	Sanne Savelberg
00028949	1-44 Pat19	PubMed: Kroes 2016	-	-	-	-	Europe-N	-	-	-	-	JBTS1	-	2	1	Sanne Savelberg
00028950	1-48 Pat20	PubMed: Kroes 2016	-	-	-	-	Europe-N	-	-	-	-	JBTS1	-	2	1	Sanne Savelberg
00028951	1-49 Pat21	PubMed: Kroes 2016	-	-	-	-	Europe-N	-	-	-	-	JBTS1	-	2	1	Sanne Savelberg
00028952	2-66 Pat22	PubMed: Kroes 2016	-	-	-	-	Europe-N	-	-	-	-	JBTS1	-	2	1	Sanne Savelberg
00056058	-	PubMed: Watson 2016, Journal: Watson 2016	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	MKS1	Meckel-Gruber syndrome	1	1	Christopher Watson
00056059	-	PubMed: Watson 2016, Journal: Watson 2016	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	MKS1	Meckel-Gruber syndrome	2	1	Christopher Watson
00056060	-	PubMed: Watson 2016, Journal: Watson 2016	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	MKS1	Meckel-Gruber syndrome	1	1	Christopher Watson
00056061	-	PubMed: Watson 2016, Journal: Watson 2016	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	MKS1	Meckel-Gruber syndrome	1	1	Christopher Watson
00056062	-	PubMed: Watson 2016, Journal: Watson 2016	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	MKS1	Meckel-Gruber syndrome	2	1	Christopher Watson
00092243	-	PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016	2-generation family, 1 affected, unaffected heterozygous carrier mother/father unknown	M	-	United States	-	-	-	-	-	MKS3	mild IDD, adolescent-onset dementia, vertical gaze palsy, ataxia, ADHD, cerebellar atrophy at age 8y (molar tooth sign at age 22y, after diagnosis established), hepatosplenomegaly,progressive hepatic fibrosis, portal hypertension,; lysosomal storage disease phenotype	1	1	Johan den Dunnen
00155014	FamPatII1	PubMed: Di Rocco 1997, PubMed: Brancati 2018, Journal: Brancati 2018	2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	-	Italy	-	-	-	-	-	RHYNS	see paper; ...	2	1	Francesco Brancati
00225722	23169490-FamMKS_F6	PubMed: Shaheen 2013	-	-	-	Saudi Arabia	-	-	-	-	-	MKS	see paper; ...	1	1	Johan den Dunnen
00265632	patient	PubMed: Bui 2020, Journal: Bui 2020	2 generation family, patient and fetus, unaffected heterozygous carrier parents	M	no	Viet Nam;(Viet Nam)	Asian	-	-	yes	-	JBTS1	HP:0001263 HP:0001251 HP:0001249 HP:0002553 HP:0000508 HP:0000657 HP:0002793 HP:0001252 HP:0001320 HP:0100951 HP:0002419 HP:0000007	2	2	Minh Tuan Huynh
00269120	-	-	-	?	-	-	-	-	-	-	-	?	Enlarged kidneys (HP:0000105); Abnormality of the myocardium (HP:0001637); Tricuspid atresia (HP:0011662); Oligohydramnios (HP:0001562); Encephalocele (HP:0002084)	1	1	Andreas Laner
00269773	Fam3	PubMed: Tsurusaki 2013	2-generation family, 1 affected	M	-	Japan	-	-	-	-	-	JBTS	see paper; ...	2	1	Johan den Dunnen
00294678	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	87	Mohammed Faruq
00294680	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	137	Mohammed Faruq
00294681	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00294682	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00294684	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00305208	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00309639	FamilyPat501	PubMed: Khan 2016	5-generation family, 8 affected (5F, 3M), unaffected heterozygous carrier parents/relatives	F	yes	Pakistan	-	-	-	-	-	retinal disease	see paper; ...	1	8	Johan den Dunnen
00309640	FamilyPat502	PubMed: Khan 2016	-	M	yes	Pakistan	-	-	-	-	-	retinal disease	see paper; ...	1	1	Johan den Dunnen
00309641	FamilyPat503	PubMed: Khan 2016	-	M	yes	Pakistan	-	-	-	-	-	retinal disease	see paper; ...	1	1	Johan den Dunnen
00309642	FamilyPat505	PubMed: Khan 2016	-	F	yes	Pakistan	-	-	-	-	-	retinal disease	see paper; ...	1	1	Johan den Dunnen
00309643	FamilyPat507	PubMed: Khan 2016	-	F	yes	Pakistan	-	-	-	-	-	retinal disease	see paper; ...	1	1	Johan den Dunnen
00309645	FamilyPat509	PubMed: Khan 2016	-	M	yes	Pakistan	-	-	-	-	-	retinal disease	see paper; ...	1	1	Johan den Dunnen
00318001	PKMR151	PubMed: Riazuddin 2017	-	-	yes	Pakistan	-	-	-	-	-	ID	Severe ID, speech delay. epilepsy, motor weakness	1	1	Johan den Dunnen
00319923	PKMR61b	PubMed: Riazuddin 2017	-	-	-	Pakistan	Punjabi	-	-	-	-	ID	intellectual disability, physically weak, deafness and speech problem	1	1	Johan den Dunnen
00331580	11DG0361	PubMed: Maddirevula 2018	isolated case	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Microcephaly, Occipital encephalocele, Pulmonary hypoplasia, Polycystic kidney dysplasia Yes	1	1	LOVD
00331581	15DG1322	PubMed: Maddirevula 2018	isolated case	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Global developmental delay, Hearing impairment, Molar tooth sign on MRI	1	1	LOVD
00331582	12DG0270	PubMed: Maddirevula 2018	isolated case	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Global developmental delay, Generalized hypotonia, Nystagmus, Visual impairment, Brea No	1	1	LOVD
00333394	RD12–02	PubMed: Wang 2017	-	-	-	United States	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00358846	Fam3	PubMed: Suzuki 2016	-	-	no	Japan	-	-	-	-	-	JBTS	mild intellectual disability; mild developmental delay; retina problems; no coloboma; kidney problems; liver symptoms; no encephalocele; no polydactyly	2	1	LOVD
00358854	Fam12	PubMed: Suzuki 2016	-	-	no	Japan	-	-	-	-	-	JBTS	moderate intellectual disability; moderate developmental delay; hypotonia; no retina problems; no coloboma; kidney problems; no liver symptoms; encephalocele; no polydactyly	2	1	LOVD
00358857	Fam15	PubMed: Suzuki 2016	-	-	no	Japan	-	-	-	-	-	JBTS	moderate intellectual disability; moderate developmental delay; no retina problems; no coloboma; no kidney problems; no liver symptoms; no encephalocele; no polydactyly	2	1	LOVD
00358860	Fam18	PubMed: Suzuki 2016	-	-	no	Japan	-	-	-	-	-	JBTS	severe intellectual disability; severe developmental delay; hypotonia,ataxia; no retina problems; no coloboma; kidney problems; no liver symptoms; no encephalocele; no polydactyly	2	1	LOVD
00358864	Fam24	PubMed: Suzuki 2016	-	-	no	Japan	-	-	-	-	-	JBTS	moderate intellectual disability; severe developmental delay; hypotonia; no retina problems; no coloboma; no kidney problems; no liver symptoms; no encephalocele; no polydactyly	2	1	LOVD
00358866	Fam27	PubMed: Suzuki 2016	-	-	no	Japan	-	-	-	-	-	JBTS	severe intellectual disability; severe developmental delay; hypotonia, ataxia; no retina problems; no coloboma; no kidney problems; no liver symptoms; no encephalocele; no polydactyly	2	1	LOVD
00358868	Fam30	PubMed: Suzuki 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	Japan	-	-	-	-	-	JBTS	severe intellectual disability; severe developmental delay; hypotonia, ataxia; no retina problems; no coloboma; no kidney problems; liver symptoms; no encephalocele; no polydactyly	2	1	LOVD
00363564	FamHSJ-JBTS-clin1PatHSJ-JBTS-1	PubMed: Srour 2015	-	F	-	Canada	French-Canadian	-	-	-	-	JBTS	see paper; ...	1	1	LOVD
00372343	UW005-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372344	UW030-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372345	UW051-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372346	UW053-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372347	UW053-4	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372348	UW054-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372349	UW055-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372350	UW055-4	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372351	UW056-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372352	UW057-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372353	UW060-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372354	UW061-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372355	UW063-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372356	UW064-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372357	UW065-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372358	UW072-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372359	UW073-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372360	UW083-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372361	UW083-4	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372362	UW084-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	1	1	LOVD
00372363	UW085-1	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372364	UW085-2	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372365	UW085-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372366	UW086-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372367	UW285-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	1	1	LOVD
00372368	UW298-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372369	UW310-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372370	UW313-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372379	UW058-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372380	UW059-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372381	UW062-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372382	UW069-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372384	ND11622	PubMed: Bachmann-Gagescu 2015	control	-	-	-	-	-	-	-	-	Healthy/Control	-	2	1	LOVD
00373382	1-45	PubMed: Kroes 2016	-	-	-	-	Europe-N	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00373386	1-57	PubMed: Kroes 2016	-	-	-	-	Europe-N	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00373387	1-59	PubMed: Kroes 2016	-	-	-	-	Europe-N	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00373882	OGI-314-749	PubMed: Consugar 2015	-	-	-	United States	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00377600	361	PubMed: Brooks 2018	family 1	M	-	United States	-	-	-	-	-	retinal disease	liver disease, oculomotor apraxia, strabismus, ptosis, coloboma - retina, optic nerve	2	1	LOVD
00377601	545	PubMed: Brooks 2018	family 2	F	-	United States	-	-	-	-	-	retinal disease	liver disease, ptosis	2	1	LOVD
00377602	216	PubMed: Brooks 2018	family 5	F	-	United States	-	-	-	-	-	retinal disease	liver disease, kidney disease, oculomotor apraxia, strabismus, coloboma - retina, retinal degeneration	2	1	LOVD
00377603	548	PubMed: Brooks 2018	family 4	M	-	United States	-	-	-	-	-	retinal disease	liver disease, kidney disease, oculomotor apraxia, nystagmus, strabismus, coloboma - retina, optic nerve	2	1	LOVD
00377604	302	PubMed: Brooks 2018	family 6	M	-	United States	-	-	-	-	-	retinal disease	liver disease, oculomotor apraxia, nystagmus, coloboma - retina	1	1	LOVD
00377605	271	PubMed: Brooks 2018	family 7	F	-	United States	-	-	-	-	-	retinal disease	liver disease, kidney disease, oculomotor apraxia, strabismus, retinal degeneration, vessel attenuation, optic nerve atrophy	1	1	LOVD
00377606	557	PubMed: Brooks 2018	family 8	M	-	United States	-	-	-	-	-	retinal disease	liver disease, kidney disease, oculomotor apraxia, strabismus, ptosis, coloboma - retina, retinal degeneration	2	1	LOVD
00377607	97	PubMed: Brooks 2018	family 3	M	-	United States	-	-	-	-	-	retinal disease	kidney disease, oculomotor apraxia, nystagmus, strabismus, ptosis, coloboma - retina, optic nerve, optic nerve atrophy	2	1	LOVD
00377608	459	PubMed: Brooks 2018	family 9	F	-	United States	-	-	-	-	-	retinal disease	liver disease, oculomotor apraxia, strabismus, coloboma - retina	2	1	LOVD
00377609	238	PubMed: Brooks 2018	family 10	M	-	United States	-	-	-	-	-	retinal disease	liver disease, kidney disease, oculomotor apraxia, nystagmus, strabismus	2	1	LOVD
00377610	255	PubMed: Brooks 2018	family 11	M	-	United States	-	-	-	-	-	retinal disease	liver disease, strabismus, coloboma - retina	2	1	LOVD
00377611	272	PubMed: Brooks 2018	family 7	M	-	United States	-	-	-	-	-	retinal disease	liver disease, kidney disease, oculomotor apraxia, strabismus, vessel attenuation, optic nerve atrophy	1	1	LOVD
00377612	301	PubMed: Brooks 2018	family 6	M	-	United States	-	-	-	-	-	retinal disease	liver disease, oculomotor apraxia, nystagmus, strabismus, coloboma - retina	1	1	LOVD
00377613	542	PubMed: Brooks 2018	family 12	F	-	United States	-	-	-	-	-	retinal disease	liver disease, nystagmus, strabismus, ptosis, coloboma - retina, retinal degeneration	2	1	LOVD
00377614	252	PubMed: Brooks 2018	family 14	F	-	United States	-	-	-	-	-	retinal disease	liver disease, kidney disease, oculomotor apraxia, strabismus, coloboma - optic nerve, vessel attenuation	2	1	LOVD
00377615	303	PubMed: Brooks 2018	family 13	F	-	United States	-	-	-	-	-	retinal disease	liver disease, kidney disease, oculomotor apraxia, nystagmus, strabismus, ptosis, coloboma - retina, optic nerve	2	1	LOVD
00377616	559	PubMed: Brooks 2018	family 8	M	-	United States	-	-	-	-	-	retinal disease	liver disease, kidney disease, nystagmus, strabismus, ptosis, coloboma - retina, retinal degeneration	2	1	LOVD
00377617	309	PubMed: Brooks 2018	family 15	M	-	United States	-	-	-	-	-	retinal disease	liver disease, kidney disease, oculomotor apraxia, nystagmus, strabismus, coloboma - retina, retinal degeneration	1	1	LOVD
00377618	562	PubMed: Brooks 2018	family 16	M	-	United States	-	-	-	-	-	retinal disease	liver disease, oculomotor apraxia, nystagmus, strabismus, ptosis, coloboma - retina	2	1	LOVD
00377619	561	PubMed: Brooks 2018	family 16	M	-	United States	-	-	-	-	-	retinal disease	liver disease, oculomotor apraxia, nystagmus, ptosis, coloboma - retina	2	1	LOVD

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Global Variome shared LOVD

TMEM67 (transmembrane protein 67)