All individuals with variants in gene TRPM1

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.

216 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
00033190	-	-	-	F	-	-	-	-	-	-	-	retinal disease	-	2	1	Kornelia Neveling
00033591	-	-	-	M	no	India	Indian	-	-	-	-	CSNB1C	-	2	1	Soumittra Nagasamy
00033592	-	-	-	F	yes	India	Indian	-	-	-	-	CSNB1C	-	1	1	Soumittra Nagasamy
00033593	-	-	-	M	yes	India	Indian	-	-	-	-	CSNB1C	-	2	1	Soumittra Nagasamy
00033594	-	-	-	M	yes	India	Indian	-	-	-	-	CSNB1C	-	2	1	Soumittra Nagasamy
00033595	-	-	-	F	no	India	Indian	-	-	-	-	CSNB1C	-	2	1	Soumittra Nagasamy
00033596	-	-	-	F	yes	India	Indian	-	-	-	-	CSNB1C	-	1	1	Soumittra Nagasamy
00050415	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, affected and affected2nd degree relatives	M	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	prominent ears, hyperextensible hand joints, specific learning disability	1	1	Johan den Dunnen
00050459	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, affected sibling(s)	M	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	global developmental delay	1	2	Johan den Dunnen
00050552	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, affected parents	M	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	motor delay, hemiplegia, congenital strabismus, plagiocephaly	1	2	Johan den Dunnen
00143915	-	PubMed: Katagiri 2014	index patient	F	no	Japan	Japanese	-	-	-	-	retinal disease	-	1	1	Rob W.J. Collin
00155553	-	Sharon, submitted	-	M	yes	Israel	Arab-Muslim	-	-	-	-	CSNB	-	1	2	Dror Sharon
00155554	-	Sharon, submitted	-	M	no	Israel	Jewish	-	-	-	-	CSNB	-	1	1	Dror Sharon
00155555	-	Sharon, submitted	-	M	no	Israel	Jewish-Ashkenazi	-	-	-	-	CSNB	-	1	2	Dror Sharon
00155556	-	Sharon, submitted	-	M	no	Israel	Arab-Muslim	-	-	-	-	CSNB	-	1	3	Dror Sharon
00229593	-	-	-	F	-	-	-	-	-	-	-	?	HP:0007642 (Congenital stationary night blindness)	1	1	IMGAG
00291168	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	14	Mohammed Faruq
00291169	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	28	Mohammed Faruq
00291170	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00291171	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00291172	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	79	Mohammed Faruq
00291173	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00299642	FamGC17880Pat3	PubMed: Arno 2017	3-generation family, 1 affeted, unaffected heterozygous carrier parents/relatives	F	yes	-	-	-	-	-	-	retinal disease	see paper; ..., 30y-photopsia (HP:0030786), nyctalopia (HP:0000662), field defect; irregular pigmented lesions in periphery (HP:0007703), foveal/parafoveal cysts (HP:?); 30y-PERG borderline on R, subnormal on L, undetectable rod ERG, abnormal cone ERG, severe rod>cone dysfunction; 33y-colour vision Ishihara R 21/23 L 3/23; 36y-fields to confrontation less than 30 degrees; presenting VA logMAR (Snellen) R 0.18 (20/30), L 0.48 (20/60); latest VA logMAR R 0.18 (20/30), L 0.8 (20/125); latest refractive error, dioptres R +2.25/-1.00x5, L +2.00/-1.50x165	1	1	Johan den Dunnen
00308676	?;patient;Pat3	PubMed: Kim 2019, PubMed: Lee 2020, PubMed: Kim 2021	-	-	-	Korea	-	-	-	-	-	retinal disease	-	2	1	Global Variome, with Curator vacancy
00309433	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309434	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309435	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309436	-	PubMed: Sharon 2019	12 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	12	Global Variome, with Curator vacancy
00309437	-	PubMed: Sharon 2019	16 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	16	Global Variome, with Curator vacancy
00316025	Fam1PatII1	PubMed: Zaharieva 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	United Kingdom (Great Britain)	white	-	-	-	-	?	see paper; ..., fetal reduced movements, breech presentation; birth moderate to severe congenital hypotonia, weak cry, thin muscle build, talipes, tube fed first 12 days, ongoing difficulties with suck during infancy but able to bottle feed; mild facial weakness, high arched palate, elongated face, neck flexion and axial weakness; limb weakness PUL ++, DUL +, PLL +++, DLL ++, weakest muscle groups neck flexors, axial muscles, hip extensors, abductors; generalized muscle atrophy most marked in shoulders; 2y-oromotor difficulties resolved; 2y-hip, knee and Achilles tendon contractures; delayed motor milestones, walk2y9m, jump-3-4y, run-3-4y (slowly); childhood: frequent falls, positive Gowers’ sign, ongoing improvements in strength and motor skills over time14y-still ambulant (500 m) with slow waddling gait, 4y-uses splints, K-walker and manual wheelchair for longer distances; 3y9m-mild ophthalmoplegia (upgaze weakness) noted, large asymmetrical dolichocephalic head shape, frontal bossing, micrognathia; 2y-scoliosis, spinal rigidity; 12y-spinal fusion for scoliosis; 6y-BIPAP required, 13y10m FVC 0.44; pes planus childhood; height initially 50th percentile fell to 2–10th percentile 13y10m (in part due to scoliosis); hypermobility; mild asymmetrical pectus excavatum; 12y-short-lived episodic weakness during febrile illnesses, post-exercise and on hot days; 13y-activity-limiting increase in fatigability, fatigues quickly with walking and writing; improved strength endurance with regular oral salbutamol	2	1	Johan den Dunnen
00327461	M68 II-1	Doucette 2021, submitted	Only Affected brother of a 4 member family. 1 unaffected sister and unaffected parents. Patient has an occult macular dystrophy though no RP1L1 variants were noted.	M	-	Canada	-	-	-	Yes	-	maculopathy	Fundus: No specific findings OCT: Normal ERG:Central loss on multi-focal electroretinogram (abnormal ERG HP:0000512) - Reduced Visual Acuity 20/40 OU (HP:0007663)	1	1	Lance P Doucette
00327964	B240273	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	-	2	1	LOVD
00328036	G001399	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	Asia-South	-	-	-	-	retinal disease	-	1	1	LOVD
00328044	G001413	PubMed: Carss 2017	-	M	-	United Kingdom (Great Britain)	Asia-South	-	-	-	-	retinal disease	-	1	1	LOVD
00328169	G006399	PubMed: Carss 2017	-	M	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	2	1	LOVD
00328272	W000097	PubMed: Carss 2017	-	M	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	1	1	LOVD
00328417	690978	PubMed: Zhou 2018	-	-	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00328480	16004916	PubMed: Taylor 2017	no family history retinal disease	F	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	congenital stationary night blindness (HP:0007642)	2	1	LOVD
00328481	12008032	PubMed: Taylor 2017	no family history retinal disease	M	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	congenital stationary night blindness (HP:0007642)	1	1	LOVD
00328482	11012960	PubMed: Taylor 2017	family history retinal disease	M	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	congenital stationary night blindness (HP:0007642)	1	1	LOVD
00328503	15019760	PubMed: Taylor 2017	no family history retinal disease	M	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	congenital stationary night blindness (HP:0007642), neurodevelopmental abnormality (HP:0012759)	2	1	LOVD
00332537	Pat20	PubMed: Comander 2017	-	M	-	United States	-	-	-	-	-	retinal disease	see paper; ...	2	1	Johan den Dunnen
00333363	Pat3	PubMed: Costa 2017	-	M	-	Brazil	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00333414	RD20–03	PubMed: Wang 2017	-	-	-	United States	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00333415	RD6–04	PubMed: Wang 2017	-	-	-	United States	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00333421	RD14–05	PubMed: Wang 2017	-	-	-	United States	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00333992	480	PubMed: Stone 2017	1 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA2fiii	2	1	LOVD
00333993	481	PubMed: Stone 2017	family, 2 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA2fiii	2	2	LOVD
00358976	Case27419	PubMed: Tiwari 2016	see paper	M	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00363686	12DG0406	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00372708	RP200	PubMed: Xu 2014	-	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00373379	-	PubMed: Van Huet 2015	-	-	-	Netherlands	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00375388	-	PubMed: Zeitz 2015	-	-	-	United States	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375389	-	PubMed: Zeitz 2015	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375390	-	PubMed: Zeitz 2015	-	-	-	Belgium	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375391	-	PubMed: Zeitz 2015	-	-	-	United States	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375392	-	PubMed: Zeitz 2015	-	-	-	France	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375393	-	PubMed: Zeitz 2015	-	-	-	United States	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375394	-	PubMed: Zeitz 2015	-	-	-	Israel	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375395	-	PubMed: Zeitz 2015	-	-	-	Belgium	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375396	-	PubMed: Zeitz 2015	-	-	-	Canada	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375397	-	PubMed: Zeitz 2015	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375398	-	PubMed: Zeitz 2015	-	-	-	Germany	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375399	-	PubMed: Zeitz 2015	-	-	-	Belgium	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375400	-	PubMed: Zeitz 2015	-	-	-	Israel	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375401	-	PubMed: Zeitz 2015	-	-	-	Israel	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375402	-	PubMed: Zeitz 2015	-	-	-	Germany	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375406	-	PubMed: Zeitz 2015	-	-	-	United States	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375426	RP#020	PubMed: Katagiri 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375428	RP#022	PubMed: Katagiri 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00376846	Pat1	PubMed: Malaichamy 2014	see paper	-	-	India	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00376847	Pat2	PubMed: Malaichamy 2014	see paper	-	-	India	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00376849	Pat4	PubMed: Malaichamy 2014	see paper	-	-	India	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00376850	Pat5	PubMed: Malaichamy 2014	see paper	-	-	India	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00376851	Pat6	PubMed: Malaichamy 2014	see paper	-	-	India	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00376852	Pat7	PubMed: Malaichamy 2014	see paper	-	-	India	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00377941	-	PubMed: _Audo-2012	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00377942	-	PubMed: _Audo-2012	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00377955	-	PubMed: _Audo-2012	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00377958	-	PubMed: _Audo-2012	has affected nephew	M	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00379429	-	PubMed: Zhou 2011	-	-	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00379897	2017010902	PubMed: Wang 2018	-	M	?	China	Han Chinese	-	-	-	-	retinal disease	-	2	1	LOVD
00381257	-	PubMed: Bijveld-2013	-	F	-	Netherlands	Dutch	-	-	-	-	retinal disease	-	2	1	Julia Lopez
00381258	-	PubMed: Bijveld-2013	-	F	-	Netherlands	Dutch	-	-	-	-	retinal disease	-	2	1	Julia Lopez
00381259	-	PubMed: Bijveld-2013	-	F	-	Netherlands	Dutch	-	-	-	-	retinal disease	-	2	1	Julia Lopez
00381260	-	PubMed: Bijveld-2013	-	M	-	Netherlands	Dutch	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00381261	-	PubMed: Bijveld-2013	-	F	-	Netherlands	Dutch	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00381262	-	PubMed: Bijveld-2013	-	F	-	Netherlands	Dutch	-	-	-	-	retinal disease	-	1	2	Julia Lopez
00381263	-	PubMed: Bijveld-2013	-	F	-	Netherlands	Dutch	-	-	-	-	retinal disease	-	2	1	Julia Lopez
00381264	-	PubMed: Bijveld-2013	-	M	-	Netherlands	Dutch	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00381265	-	PubMed: Bijveld-2013	-	F	-	Netherlands	Dutch	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00382309	138	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00382579	441	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00382606	469	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	2	1	LOVD
00383461	-	PubMed: Khan 2019	-	F	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00383462	-	PubMed: Khan 2019	-	M	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383522	?	PubMed: Kim 2019	-	?	-	Korea, South (Republic)	-	-	-	-	-	retinal disease	-	1	1	LOVD
00384297	13510	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	retinal disease	-	2	1	LOVD
00385170	63	PubMed: Jiman 2020	-	M	-	(United Kingdom (Great Britain))	-	-	-	-	-	retinal disease	HP:0001249 Intellectual disability; HP:0000708 Behavioural abnormality; HP:0007642 Congenital stationary night blindness	2	1	LOVD
00386690	OGI1081_002135	PubMed: Zampaglione 2020	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD

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Global Variome shared LOVD

TRPM1 (transient receptor potential cation channel,...)