All individuals with variants in gene CRYAB

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.

56 entries on 1 page. Showing entries 1 - 56.

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
00072253	-	PubMed: Xia 2014, Journal: Xia 2016	Family, 6-affected family members in a 5-generation Chinese family, II3	F	-	China	Chinese	-	-	-	-	CTRCT16;CTPP2, CTRCT2;CCL	poor vision (HP:0000505), visual acuity test abnormality - before surgery (HP:0030532), less visual acuity test abnormality - after surgery (HP:0030532)	1	6	Jamie Zeegers
00072254	-	PubMed: Xia 2014, Journal: Xia 2016	Family, 6-affected family members in a 5-generation Chinese family, II4	M	-	China	Chinese	>17y	-	-	-	CTRCT16;CTPP2, CTRCT2;CCL	poor vision (HP:0000505), visual acuity test abnormality - before surgery (HP:0030532), less visual acuity test abnormality - after surgery (HP:0030532)	1	1	Jamie Zeegers
00072255	-	PubMed: Xia 2014, Journal: Xia 2016	Family, 6-affected family members in a 5-generation Chinese family, III1	M	-	China	Chinese	>20y	-	-	-	CTRCT16;CTPP2, CTRCT2;CCL	poor vision (HP:0000505), visual acuity test abnormality - before surgery (HP:0030532), less visual acuity test abnormality - after surgery (HP:0030532)	1	1	Jamie Zeegers
00072256	-	PubMed: Xia 2014, Journal: Xia 2016	Family, 6-affected family members in a 5-generation Chinese family, III4	F	-	China	Chinese	>19y	-	-	-	CTRCT16;CTPP2, CTRCT2;CCL	poor vision (HP:0000505), visual acuity test abnormality - before surgery (HP:0030532), less visual acuity test abnormality - after surgery (HP:0030532)	1	1	Jamie Zeegers
00072257	-	PubMed: Xia 2014, Journal: Xia 2016	Family, 6-affected family members in a 5-generation Chinese family, IV2	M	-	China	Chinese	>11y	-	-	-	CTRCT16;CTPP2, CTRCT2;CCL	poor vision (HP:0000505), visual acuity test abnormality - before surgery (HP:0030532), less visual acuity test abnormality - after surgery (HP:0030532)	1	1	Jamie Zeegers
00072258	-	PubMed: Xia 2014, Journal: Xia 2016	Family, 6-affected family members in a 5-generation Chinese family, IV5	F	-	China	Chinese	>08y	-	-	-	CTRCT16;CTPP2, CTRCT2;CCL	poor vision (HP:0000505), visual acuity test abnormality - before surgery (HP:0030532), less visual acuity test abnormality - after surgery (HP:0030532)	1	1	Jamie Zeegers
00072260	FamPatI2	PubMed: Safieh 2009, PubMed: Khan 2015	Family, mother is affected, father is carrier and 4-affected siblings, I-2	F	-	Saudi Arabia	Saudi	>35y	-	-	Surgery	CCTRCT	bilateral aphakia (HP:0007707), retinal dystrophic (HP:?), depressed retinal function (HP:?)	1	5	Jamie Zeegers
00072262	FamPatII1	PubMed: Safieh 2009, PubMed: Khan 2015	Family, mother is affected, father is carrier and 4-affected siblings, II-1	F	-	Saudi Arabia	Saudi	>16y	-	-	Surgery	CCTRCT	right eye aphakia (HP:0007707), right eye retinal detachment (HP:0000541), left eye revealed nothing remarkable (HP:?)	1	1	Jamie Zeegers
00072263	FamPatII2	PubMed: Safieh 2009, PubMed: Khan 2015	Family, mother is affected, father is carrier and 4-affected siblings, II-2	F	-	Saudi Arabia	Saudi	>14y	-	-	Surgery	CCTRCT	bilateral pseudophakia (HP:?), unremarkable retinal examination (HP:?)	1	1	Jamie Zeegers
00072264	FamPatII7	PubMed: Safieh 2009, PubMed: Khan 2015	Family, mother is affected, father is carrier and 4-affected siblings, II-7	M	-	Saudi Arabia	Saudi	>01y	-	-	-	CCTRCT	no ocular abnormality (-HP:?), clinically insignificant fine opacities in the red reflect (HP:?)	1	1	Jamie Zeegers
00072265	FamPatII4	PubMed: Safieh 2009, PubMed: Khan 2015	Family, mother is affected, father is carrier and 4-affected siblings, II-4	F	-	Saudi Arabia	Saudi	-	-	-	-	CCTRCT	visually insignificant lens opacities (HP:0000518), ophthalmic examination unremarkable (HP:?)	1	1	Jamie Zeegers
00072268	-	PubMed: Jiaox 2015, Journal: Jiaox 2015	Family, 14-affected family members	-	yes	Pakistan	Pakistani	-	-	-	-	CCTRCT	congenital cataract (HP:0000519)	1	14	Jamie Zeegers
00072269	-	PubMed: Jiaox 2015, Journal: Jiaox 2015	Family, 6-affected family members	-	yes	Pakistan	Pakistani	-	-	-	-	CCTRCT	congenital cataract (HP:0000519)	1	6	Jamie Zeegers
00103211	-	-	-	M	no	Germany	-	-	-	-	-	RCM	-	1	1	Andreas Brodehl
00205368	-	PubMed: Inagaki 2006	-	-	-	Japan	-	-	-	-	-	CMD	-	1	1	Johan den Dunnen
00205369	-	PubMed: Hahner 2000	-	-	-	Germany	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00205370	-	PubMed: Hahner 2000	-	-	-	Germany	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00205371	-	PubMed: Hahner 2000	-	-	-	Germany	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00205372	-	PubMed: Van Veen 2003	-	-	-	Netherlands	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00205373	-	PubMed: Van Veen 2003	-	-	-	Netherlands	-	-	-	-	-	Healthy/Control	-	2	1	Johan den Dunnen
00205374	-	PubMed: Hahner 2000	-	-	-	Germany	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00205375	-	PubMed: Hahner 2000	-	-	-	Germany	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00205376	-	PubMed: Van Veen 2003	-	-	-	Netherlands	-	-	-	-	-	?	increased susceptibility multiple sclerosis and disease expression influenced; increased likelihood of a noninflammatory, neurodegenerative phenotype characterized by a relatively rapid, primary progressive clinical disease course	1	1	Johan den Dunnen
00205377	-	PubMed: Van Veen 2003	-	-	-	Netherlands	-	-	-	-	-	?	reduced in cases	1	1	Johan den Dunnen
00205378	-	-	-	-	-	(United States)	-	-	-	-	-	MFM	-	1	1	Tom Winder
00205379	-	PubMed: Liu 2006	4-generation family, 13 affecteds	-	-	China	-	-	-	-	-	CTRCT	cataract, posterior polar (CTPP2)	1	14	Johan den Dunnen
00205380	-	PubMed: Fardeau 1978	3-generation family, 11 affecteds	-	-	France	-	-	-	-	-	?	myopathy, weakness proximal/distal limb muscle (incl. neck, velopharynx trunk muscles), cardiomyopathy signs, cataract; DES aggregates	1	11	Johan den Dunnen
00205381	-	PubMed: Liu 2006	5-generation family, 12 affecteds	-	-	China	-	-	-	-	-	CTRCT	cataract, lamellar	1	12	Johan den Dunnen
00205382	-	PubMed: Berry 2001, OMIM:var0002	5-generation family, 16 affecteds	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CTRCT	posterior polar cataract (CTPP2)	1	16	Johan den Dunnen
00205383	-	PubMed: Selcen 2003	-	M	-	United States	-	>53y	-	-	-	MFM	no elevated serum creatine phosphokinase (-HP:003236) ; slowly progressive leg weakness, atrophy with bilateral foot drop, occasional cramping/stiffness leg muscles after exercise, severe weakness anterior tibial, toe extensor, peroneal muscles, mild weakness quadriceps, iliopsoas, hamstring, finger extensor muscles	1	1	Johan den Dunnen
00205384	-	PubMed: Selcen 2003	-	M	-	United States	-	58y	-	-	-	MFM	elevated serum creatine phosphokinase (HP:003236) 6.4x;	1	1	Johan den Dunnen
00205385	-	PubMed: Inagaki 2006	2 siblings (56y, 66y) CMD, sudden cardiac death 2 other siblings (60y 72y)	F	-	Japan	-	>71y	-	-	-	CMD	mild, slowly expressed; >40y-developed cardiac symptoms, ECG apparent inverted T waves V4V6, ventricular tachycardia	1	5	Johan den Dunnen
00205386	-	PubMed: Pilotto 2006	potentially affected father died at 80y after 20y congestive heart failure (DCM)	F	-	Italy	-	>48y	-	-	-	CMD	mildly elevated serum creatine phosphokinase (HP:008180) ; mild left ventricular dilation (LVEF=30%), restrictive transmittal flow pattern, mild mitral regurgitation, ECG sinus rhythm, negative T waves precordial leads (V4V6), Holter ECG no arrhythmias, cataract absent	1	1	Johan den Dunnen
00205387	-	PubMed: Reilich 2010	mother >60y bilateral foot extensor weakness, maternal grandfather cardiomyopathy	M	-	Germany	-	>73y	-	-	-	MFM	elevated serum creatine phosphokinase (HP:003236) 1.5-2.5x; late-onset distal vacuolar myopathy (protein aggregates); affected finger flexors, mild swallowing difficulties (fluids), coronary heart disease, intermittent atrial fibrillations, diabetes mellitus, hyperlipidemia, hypertonia	1	1	Johan den Dunnen
00205388	-	PubMed: Devi 2008	2 affected brothers	-	-	India	-	-	-	-	-	CTRCT	cataract, lamellar	1	2	Johan den Dunnen
00289133	P2	PubMed: Evilä 2016	-	-	-	Netherlands	-	-	-	-	-	MYOP	distal myopathy	1	1	Johan den Dunnen
00314191	-	PubMed: Topf 2020	analysis 1001 patients with unexplained limb-girdle weakness	-	-	-	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00316821	-	PubMed: Walsh 2017	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CM	-	1	1	Johan den Dunnen
00317717	-	PubMed: Walsh 2017	-	-	-	United States	-	-	-	-	-	CM	-	1	1	Johan den Dunnen
00334641	-	PubMed: Maranhao 2015	analysis 25 Pedigrees	-	-	Pakistan	-	-	-	-	-	retinal disease	-	1	7	LOVD
00334642	-	PubMed: Maranhao 2015	analysis 25 Pedigrees	-	-	Pakistan	-	-	-	-	-	retinal disease	-	1	7	LOVD
00385470	15004858	PubMed: Lenassi 2020	retrospective analysis	F	-	(United Kingdom (Great Britain))	-	-	-	-	-	retinal disease	-	1	1	LOVD
00385494	16014046	PubMed: Lenassi 2020	retrospective analysis	M	-	(United Kingdom (Great Britain))	-	-	-	-	-	retinal disease	-	1	1	LOVD
00392282	44	PubMed: Bell 2021	-	M	no	(United Kingdom (Great Britain))	-	-	-	-	-	retinal disease	Anterior polar cataract	1	1	LOVD
00392303	44	PubMed: Bell 2021	-	M	no	(United Kingdom (Great Britain))	-	-	-	-	-	retinal disease	aphakia	1	1	LOVD
00392304	44	PubMed: Bell 2021	-	M	no	(United Kingdom (Great Britain))	-	-	-	-	-	retinal disease	sutural/blue dot cataract	1	1	LOVD
00441798	Fam1	PubMed: Cortese 2023	3-generation family, affected grandfather/father, son/daughter	F;M	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT2	see paper; ..., Charcot–Marie–Tooth disease, congenital cataracts	1	4	Johan den Dunnen
00441799	Fam2	PubMed: Cortese 2023	2-generation family, 3 affected (3F)	F	-	Austria	-	-	-	-	-	CMT2	see paper; ..., Charcot-Marie-Tooth disease, congenital cataract	1	1	Johan den Dunnen
00441890	Fam13	PubMed: Khan 2015	2-generation family, 3 affected sibs (2F, M)	-	yes	Saudi Arabia	-	-	-	-	-	CTRCT	bilateral juvenile cataract to total white	1	3	Johan den Dunnen
00442654	Pat26	PubMed: Westra 2019	-	F	-	-	-	-	-	-	-	NMD	Distal anterior myopathy with weakness of neck muscles; muscle biopsy: type 1 fiber size predominance with presence of internal nuclei and core-like structures, dystrophic changes and basophilic vacuoles; CK = 193 U/l	1	1	Johan den Dunnen
00442800	Pat172	PubMed: Westra 2019	-	F	-	-	-	-	-	-	-	NMD	Exercise intolerance, myalgia, with fibre type 1 predominance in muscle biopsy, possibly autosomal dominant	1	1	Johan den Dunnen
00444887	Fam3PatIII1	PubMed: Ma 2016	3-generation family, 4 affected (4F)	F	-	Australia	-	-	-	-	-	CTRCT	see paper; ..., bilateral rudimentary lens on ultrasound, bilateral sclerocornea, nystagmus visual acuity 2/60; sister bilateral cataracts, mother bilateral cataracts, father unaffected	1	4	Johan den Dunnen
00444916	Fam33PatII2	PubMed: Ma 2016	3-generation family, 5 affected (F, 4M)	F	-	Australia	-	-	-	-	-	CTRCT	see paper; ..., bilateral lens opacities with 'frosted glass' appearance; son 18m-cataracts, 6y-lensectomies; father and 2 uncles with cataracts.	1	5	Johan den Dunnen
00444957	11DG1744	PubMed: Patel 2017	family	-	-	-	-	-	-	-	-	CTRCT	pediatric cataract; not syndromic	1	4	Johan den Dunnen
00446594	QT192PatII1	PubMed: Sun 2011	2-generation family, affected father/son	M	no	China	-	-	-	-	-	CTRCT	cataract	1	2	Johan den Dunnen
00446743	Pat4	PubMed: Miszalski-Jamka 2017	case solved	-	-	-	-	-	-	-	-	LVNC	-	1	1	Johan den Dunnen

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Global Variome shared LOVD

CRYAB (crystallin, alpha B)