All individuals with variants in gene POC1B

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.

46 entries on 1 page. Showing entries 1 - 46.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00016591	-	-	-	M	yes	Iraq	-	-	-	-	-	JBTS1	-	1	1	Hanno Bolz
00227947	-	-	-	F	-	-	-	-	-	-	-	?	HP:0000548 (Cone/cone-rod dystrophy)	1	1	IMGAG
00324517	FamBPatII1	PubMed: Roosing 2014, Journal: Roosing 2014	2-generation family, 1 affected child (M), unaffected heterozygous carrier parents	M	?	Netherlands	-	>60y	-	-	treated for hypertension	CORD	14y-reduced visual acuity (HP:0007663), photophobia (HP:0000613), nystagmus HP:0000639), abnormality of colour vision (HP:0000551), 50-59y-reduced visual acuity (HP:0007663), >60y-degenerative changes consisting of RPE atrophy and bone-spicule pigmentations in the periphery of the inferior quadrant, abnormality at the inner-segment ellipsoid zone; 55y-absent rod- and cone-mediated responses on ERG	2	1	Jens Doets
00324522	Fam1PatII1	PubMed: Jin 2018, PubMed: Jin 2018	3 generation family, 1 affected (F), unaffected heterozygous carrier parents	F	?	China	-	>26y	-	-	-	COD	photophobia (HP:0000613), reduced visual acuity (HP:0007663), paracentral scotoma (HP:0030528)	2	1	Jens Doets
00324526	patient	PubMed: Kominami 2019, PubMed: Kominami 2017, Journal: Kominami 2017	2-generation family, 1 affected, unaffected parents	M	no	Japan	-	>20y	-	-	-	COD	see paper; ..., decreased central vision (HP:0007663), extreme photophobia (HP:0000613), progressive visual loss in both eyes (HP:0000529), dyschromatopsia (HP:0007641), absent rod-and cone-mediated responses on ERG (HP:0007688)	2	1	Najlae Akhiyate
00324548	FamPat305	PubMed: Durlu 2014	4-generation family, 4 affected (3F, M)	F	yes	Turkey	-	>61y	-	-	-	CORD20	decreased central vision (HP:0007663), dyschromatopsia (HP:0000551) and extreme photophobia (HP:0000613)	1	4	Najlae Akhiyate
00326002	FamAPatII1	PubMed: Roosing 2014, Journal: Roosing 2014	2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents	F	no	Turkey	-	>16y	-	-	-	CORD	reduced visual acuity (HP:0007663), nystagmus (HP:0000639), 9y-absent cone function	1	3	Jens Doets
00326004	FamAPatII3	PubMed: Roosing 2014, Journal: Roosing 2014	sister	F	no	Turkey	-	-	-	-	-	CORD	11y-reduced visual acuity (HP:0007663)	1	1	Jens Doets
00326005	FamAPatII4	PubMed: Roosing 2014, Journal: Roosing 2014	brother	M	no	Turkey	-	>09y	-	-	-	CORD	reduced visual acuity (HP:0007663), 6y-absent cone function	1	1	Jens Doets
00326802	patient	PubMed: Kominami 2017, PubMed: Kominami 2017	-	M	no	Japan	Japan	>20y	-	-	-	COD	photophobia (HP:0000613), progressive visual loss in both eyes (HP:0000529), reduced visual acuity (HP:0007663), Dyschromatopsia (HP:0007641), Absent rod-and cone-mediated responses on ERG (HP:0007688)	2	1	Jens Doets
00327547	family	PubMed: Beck 2014	2-generation family, 5 affected (2F, 3M)	F;M	yes	Iraq	-	-	-	-	-	retinal disease	see paper; ..., Leber congenital amaurosis , Joubert syndrome, polycystic kidney disease	2	5	Johan den Dunnen
00327548	family	PubMed: Gu 2016	2-generation family	-	-	China	-	-	-	-	-	PKD	-	1	1	Johan den Dunnen
00327549	Fam1	PubMed: Kameya 2019	2-generation family, 2 affected sisters, unaffected heterozygous carrier parents	F	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	2	2	LOVD
00327550	Fam2	PubMed: Kameya 2019	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	2	2	LOVD
00327551	Fam3	PubMed: Kameya 2019	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00327552	Fam4	PubMed: Kameya 2019	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00327553	Fam5	PubMed: Kameya 2019	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents	F	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	2	LOVD
00327554	Fam6	PubMed: Kameya 2019	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00327555	Fam7	PubMed: Kameya 2019	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00331982	Pat120	PubMed: Birtel 2018	family	F	-	Germany	-	-	-	-	-	retinal disease	reduced visual acuity; scotopic ERG extinguished; photopic ERG extinguished	1	1	LOVD
00334507	-	-	-	F	-	-	-	-	-	-	-	?	Vitelliform-like macular lesions (HP:0007677); Macular dystrophy (HP:0007754); Occult macular dystrophy (HP:0030636)	1	1	IMGAG
00335195	4252	PubMed: Haer-Wigman 2017	patient	-	yes	Netherlands	-	-	-	-	-	?	48y-diagnosis visual impairment	1	1	LOVD
00335196	1061	PubMed: Haer-Wigman 2017	patient	-	no	Netherlands	-	-	-	-	-	?	14y-diagnosis visual impairment	1	1	LOVD
00335197	3806	PubMed: Haer-Wigman 2017	patient	-	no	Netherlands	-	-	-	-	-	?	18y-diagnosis visual impairment	2	1	LOVD
00371675	178457	-	-	M	yes	-	-	-	-	-	-	CORD20	(+) Visual impairment,(+) Cone/cone-rod dystrophy/ Cone-rod dystrophy, onset at about 12 years, now visual acuity at 10%, parents consanguine (cosuins 1°)	1	1	Andreas Laner
00380090	IR_GH_0181	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	CORD	HP:0030515, HP:0000662, HP:0000613, HP:0001123, HP:0000551, HP:0000548	2	1	Jinu Han
00388264	4.1	PubMed: Toulis 2020	proband	M	-	Spain	-	-	-	-	-	retinal disease	Reduced photopic and flicker amplitude, best corrected visual acuity right eye/left eye: 20�40/20�50	2	1	LOVD
00388266	4.2	PubMed: Toulis 2020	Affected brother of 4.1	M	-	Spain	-	-	-	-	-	retinal disease	-	2	1	LOVD
00389836	1120	PubMed: Weisschuh 2020	Filing key number: 764, cone-rod dystrophy, no patient Ids, consecutive numbers given	M	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00391179	141	PubMed: Gliem 2020	-	F	-	(Germany)	-	-	-	-	-	retinal disease	-	1	1	LOVD
00392649	132	PubMed: Ma 2021	-	?	-	Korea	-	-	-	-	-	retinal disease	initial diagnosis of isolated (sporadic) retinitis pigmentosa redifined to cone-rod dystrophy	1	1	LOVD
00392656	145	PubMed: Ma 2021	-	?	-	Korea	-	-	-	-	-	retinal disease	initial diagnosis of isolated (sporadic) cone-rod dystrophy redifined to cone-rod dystrophyD	2	1	LOVD
00395890	F150	PubMed: Chen 2021	-	?	-	Taiwan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00408392	-	-	-	-	-	Mexico	-	-	-	-	-	maculopathy	-	1	1	Oscar F Chacon-Camacho
00408393	-	-	-	-	-	Mexico	-	-	-	-	-	maculopathy	-	1	1	Oscar F Chacon-Camacho
00420480	F150	PubMed: Chen 2021	-	-	-	Taiwan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00423250	CRD766	PubMed: Weisschuh 2021	-	F	-	-	-	-	-	-	-	retinal disease	best corrected visual acuity right/left eye: 1 / 0.125; night blindness: no; photophobia: yes; color vision defect: yes	1	1	LOVD
00423251	MCM38	PubMed: Weisschuh 2021	-	F	-	-	-	-	-	-	-	retinal disease	best corrected visual acuity right/left eye: 0.4 / 0.5; night blindness: no; photophobia: yes; color vision defect: no	2	1	LOVD
00423252	CRD668	PubMed: Weisschuh 2021	-	M	-	-	-	-	-	-	-	retinal disease	best corrected visual acuity right/left eye: 0.5 / 0.4; night blindness: not until 47y; photophobia: yes; color vision defect: yes, predominantly tritan defects	2	1	LOVD
00436588	2471823	Villafuerte-de la Cruz RA, et al., 2023. Submitted	-	F	likely	Mexico	Hispanic	-	-	-	-	USH2A	-	1	1	Rocio Villafuerte-de la Cruz
00436591	3306467	Villafuerte-de la Cruz RA, et al., 2023. Submitted	-	F	no	Mexico	Hispanic	-	-	-	-	retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness	Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551	2	1	Rocio Villafuerte-de la Cruz
00447079	CRD-668	PubMed: Weisschuh 2024	patient, no family history	M	-	Germany	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00447082	CRD-766	PubMed: Weisschuh 2024	patient, no family history	F	-	Germany	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00447172	MDS-438	PubMed: Weisschuh 2024	patient, no family history	F	-	Germany	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00447660	CD-438	PubMed: Weisschuh 2024	patient, no family history	M	-	Germany	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00451256	072948	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	-	-	-	-	-	-	-	-	macular dystrophy	-	1	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

POC1B (POC1 centriolar protein homolog B (Chlamydo...))