Disease #04230 (ACHM (achromatopsia (ACHM)))

Official abbreviation	ACHM
Name	achromatopsia (ACHM)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	105
Phenotype entries for this disease	104
Associated with 6 genes	ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H
Associated tissues	-
Disease features	-
Remarks	-
Date created	2015-03-22 20:43:12 +01:00 (CET)
Date last edited	N/A

Individuals

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.

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Operator	Column type	Example	Matches
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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'

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105 entries on 2 pages. Showing entries 1 - 100.

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Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00104998	75ORG1	PubMed: de Castro-Miró 2016	-	F	yes	Saudi Arabia	-	-	-	-	-	ACHM	-	-	CNGA3	1	1	Marta de Castro-Miró
00105013	71ORG1	PubMed: de Castro-Miró 2016	-	F	yes	Saudi Arabia	-	-	-	-	-	ACHM	-	-	CNGB3	1	1	Marta de Castro-Miró
00173732	10888875-Fam1	PubMed: Sundin 2000	large multi-generation family, 23 affected, unaffected heterozygous carrier relatives	F;M	-	Micronesia	Pingelapese islanders	-	-	-	-	ACHM	see paper; ..., total colorblindness, photophobia, nystagmus, 20/200 visual acuity, normal-appearing retina; ECG slightly lower than normal rod function, no detectable cone response	CNGB3	CNGB3	1	23	Johan den Dunnen
00173733	10888875-Fam2	PubMed: Sundin 2000	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	no	Micronesia	Pingelapese islanders	-	-	-	-	ACHM	achromatopsia, total colourblindness, photophobia, nystagmus, 20/200 visual acuity, normal-appearing retina, healthy, normal intelligence; electroretinography older brother revealed normal rod response, no cone response	CNGB3	CNGB3	2	2	Johan den Dunnen
00173737	10888875-Fam3	PubMed: Sundin 2000	affected female	F	?	Micronesia	Pingelapese islanders	-	-	-	-	ACHM	horizontal nystagmus, marked photophobia; normal electroretinographic rod response, no detectable cone response	CNGB3	CNGB3	1	1	Johan den Dunnen
00173738	10958649-FamCHRO4	PubMed: Kohl 2000	2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	-	-	white	-	-	-	-	ACHM	-	CNGB3	CNGB3	1	1	Johan den Dunnen
00173739	10958649-FamCHRO8	PubMed: Kohl 2000	2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives	F;M	-	-	white	-	-	-	-	ACHM	-	CNGB3	-	-	2	Johan den Dunnen
00173740	10958649-FamCHRO12	PubMed: Kohl 2000	2-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives	M	-	-	white	-	-	-	-	ACHM	-	CNGB3	CNGB3	2	2	Johan den Dunnen
00173741	10958649-FamCHRO17	PubMed: Kohl 2000	2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	F	-	-	white	-	-	-	-	ACHM	-	CNGB3	CNGB3	2	1	Johan den Dunnen
00173742	10958649-FamCHRO19	PubMed: Kohl 2000	2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives	F;M	-	-	white	-	-	-	-	ACHM	-	CNGB3	CNGB3	1	3	Johan den Dunnen
00173743	10958649-FamCHRO56	PubMed: Kohl 2000	2-generation family, 3 affected (3F), unaffected heterozygous carrier parents/relatives	F	-	-	white	-	-	-	-	ACHM	-	CNGB3	CNGB3	1	3	Johan den Dunnen
00173744	10958649-FamCHRO92	PubMed: Kohl 2000	2-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives	M	-	-	white	-	-	-	-	ACHM	-	CNGB3	CNGB3	1	2	Johan den Dunnen
00173745	10958649-FamCHRO120	PubMed: Kohl 2000	2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives	F;M	-	-	white	-	-	-	-	ACHM	-	CNGB3	CNGB3	1	2	Johan den Dunnen
00173746	10958649-FamCHRO182	PubMed: Kohl 2000	2-generation family, 3 affected (F, 2?), unaffected heterozygous carrier parents/relatives	F	-	-	white	-	-	-	-	ACHM	-	CNGB3	CNGB3	1	3	Johan den Dunnen
00173747	10958649-FamCHRO183	PubMed: Kohl 2000	2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	-	Micronesia	-	-	-	-	-	ACHM	-	CNGB3	CNGB3	1	1	Johan den Dunnen
00173748	10958649-FamCHRO184	PubMed: Kohl 2000	2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	F	-	-	white	-	-	-	-	ACHM	-	CNGB3	CNGB3	1	1	Johan den Dunnen
00378012	IR_SH_0003	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	ACHM	HP:0000613, HP:0000639, HP:0000007, HP:0011516	-	CNGA3	2	1	Jinu Han
00378055	IR_SH_0035	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	ACHM	HP:0001141, HP:0000613, HP:0001129, HP:0000639, HP:0000551, HP:0000007, HP:0011516	-	PDE6C	2	1	Jinu Han
00379643	IR_GH_0025	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	ACHM	HP:0030515, HP:0000613, HP:0001129, HP:0000007, HP:0000639, HP:0011516	-	PDE6C	2	1	Jinu Han
00379683	IR_GH_0074	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	ACHM	HP:0030515, HP:0000613, HP:0001129, HP:0000639, HP:0000551, HP:0000007, HP:0011516	-	PDE6C	2	1	Jinu Han
00379686	IR_GH_0080	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	ACHM	HP:0030515, HP:0000613, HP:0001129, HP:0000639, HP:0000007, HP:0011516, HP:0000551	-	CNGA3	1	1	Jinu Han
00379768	IR_GH_0120	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	ACHM	HP:0001141, HP:0000613, HP:0001129, HP:0000639, HP:0000551, HP:0011516	-	CNGA3	2	1	Jinu Han
00414779	-	-	-	-	-	-	-	-	-	-	-	ACHM	-	CNGA3	CNGA3	1	1	Peggy Reuter
00451680	-	-	-	M	-	- (not applicable)	-	-	-	-	-	ACHM	HP:0000478, HP:0000613, HP:0000252, HP:0000271	-	ALMS1	2	1	Marketa Wayhelova
00454931	Fam219Pat7	PubMed: Andersen 2023	family, 3 affected	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGA3	2	3	Susanne Kohl
00454932	Fam219Pat40	PubMed: Andersen 2023	sib	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGA3	2	1	Susanne Kohl
00454933	Fam219Pat64	PubMed: Andersen 2023	sib	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGA3	2	1	Susanne Kohl
00454934	Fam214Pat63	PubMed: Andersen 2023	sib	-	yes	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGA3	1	1	Susanne Kohl
00454935	Fam209Pat42	PubMed: Andersen 2023	family, 3 affected	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGA3	2	3	Susanne Kohl
00454936	Fam209Pat96	PubMed: Andersen 2023	sib	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGA3	2	1	Susanne Kohl
00454937	Pat44	PubMed: Andersen 2023	patient	-	yes	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGA3	1	1	Susanne Kohl
00454938	Pat45	PubMed: Andersen 2023	patient	-	yes	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGA3	1	1	Susanne Kohl
00454939	Fam203Pat62	PubMed: Andersen 2023	sib	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGA3	2	1	Susanne Kohl
00454940	Pat61	PubMed: Andersen 2023	patient	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGA3	2	1	Susanne Kohl
00454941	Pat76	PubMed: Andersen 2023	patient	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGA3	2	1	Susanne Kohl
00454942	Fam555Pat77	PubMed: Andersen 2023	family, 2 affected	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGA3	2	2	Susanne Kohl
00454943	Fam555Pat78	PubMed: Andersen 2023	sib	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGA3	2	1	Susanne Kohl
00454944	Pat93	PubMed: Andersen 2023	patient	-	-	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGA3	1	1	Susanne Kohl
00454945	Pat92	PubMed: Andersen 2023	patient	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGA3, CNGB3	3	1	Susanne Kohl
00454946	Pat1	PubMed: Andersen 2023	patient	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454947	Pat6	PubMed: Andersen 2023	patient	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454948	Pat9	PubMed: Andersen 2023	patient	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454949	Pat11	PubMed: Andersen 2023	patient	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454950	Pat12	PubMed: Andersen 2023	patient	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454951	Fam201Pat10	PubMed: Andersen 2023	family, 2 affected	-	yes	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	2	Susanne Kohl
00454952	Fam201Pat21	PubMed: Andersen 2023	sib	-	yes	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454953	Fam212Pat13	PubMed: Andersen 2023	family, 2 affected	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	2	Susanne Kohl
00454954	Fam212Pat60	PubMed: Andersen 2023	sib	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454955	Pat14	PubMed: Andersen 2023	patient	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454956	Pat19	PubMed: Andersen 2023	patient	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454957	Fam205Pat15	PubMed: Andersen 2023	family, 4 affected	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	4	Susanne Kohl
00454958	Fam205Pat20	PubMed: Andersen 2023	sib	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454959	Fam205Pat94	PubMed: Andersen 2023	sib	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454960	Fam205Pat27	PubMed: Andersen 2023	sib	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454961	Pat16	PubMed: Andersen 2023	patient	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454962	Pat17	PubMed: Andersen 2023	patient	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454963	Pat18	PubMed: Andersen 2023	patient	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454964	Pat22	PubMed: Andersen 2023	patient	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454965	Pat23	PubMed: Andersen 2023	patient	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454966	Pat24	PubMed: Andersen 2023	patient	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454967	Pat25	PubMed: Andersen 2023	patient	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454968	Pat26	PubMed: Andersen 2023	patient	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454969	Fam204Pat28	PubMed: Andersen 2023	family, 4 affected	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	4	Susanne Kohl
00454970	Fam204Pat29	PubMed: Andersen 2023	sib	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454971	Fam204Pat30	PubMed: Andersen 2023	sib	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454972	Fam204Pat95	PubMed: Andersen 2023	sib	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454973	Pat31	PubMed: Andersen 2023	patient	-	yes	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454974	Pat32	PubMed: Andersen 2023	patient	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454975	Pat33	PubMed: Andersen 2023	patient	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454976	Pat34	PubMed: Andersen 2023	patient	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454977	Pat47	PubMed: Andersen 2023	patient	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454978	Fam1089Pat48	PubMed: Andersen 2023	family, 2 affected	-	yes	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	2	Susanne Kohl
00454979	Fam1089Pat50	PubMed: Andersen 2023	sib	-	yes	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454980	Pat59	PubMed: Andersen 2023	patient	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454981	Pat97	PubMed: Andersen 2023	patient	-	-	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454982	Pat98	PubMed: Andersen 2023	patient	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454983	Fam217Pat2	PubMed: Andersen 2023	family, 3 affected	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	2	3	Susanne Kohl
00454984	Fam217Pat37	PubMed: Andersen 2023	sib	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	2	1	Susanne Kohl
00454985	Fam217Pat38	PubMed: Andersen 2023	sib	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	2	1	Susanne Kohl
00454986	Fam210Pat4	PubMed: Andersen 2023	family, 2 affected	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	2	2	Susanne Kohl
00454987	Fam210Pat39	PubMed: Andersen 2023	sib	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	2	1	Susanne Kohl
00454988	Pat8	PubMed: Andersen 2023	patient	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	2	1	Susanne Kohl
00454989	Fam207Pat35	PubMed: Andersen 2023	family, 2 affected	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	2	2	Susanne Kohl
00454990	Fam207Pat36	PubMed: Andersen 2023	sib	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	2	1	Susanne Kohl
00454991	Pat51	PubMed: Andersen 2023	patient	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	2	1	Susanne Kohl
00454992	Pat69	PubMed: Andersen 2023	patient	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	2	1	Susanne Kohl
00454993	Pat74	PubMed: Andersen 2023	patient	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	2	1	Susanne Kohl
00454994	Pat80	PubMed: Andersen 2023	patient	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	2	1	Susanne Kohl
00454995	Pat100	PubMed: Andersen 2023	patient	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	2	1	Susanne Kohl
00454996	Fam203Pat52	PubMed: Andersen 2023	sib	-	yes	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454997	Fam203Pat54	PubMed: Andersen 2023	sib	-	yes	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00454998	Fam215Pat55	PubMed: Andersen 2023	family, 2 affected	-	yes	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	2	Susanne Kohl
00454999	Fam215Pat56	PubMed: Andersen 2023	sib	-	yes	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00455000	Pat72	PubMed: Andersen 2023	patient	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00455001	Pat75	PubMed: Andersen 2023	patient	-	yes	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	1	1	Susanne Kohl
00455002	Pat99	PubMed: Andersen 2023	patient	-	no	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	CNGB3	2	1	Susanne Kohl
00455003	Pat67	PubMed: Andersen 2023	patient	-	yes	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	PDE6C	1	1	Susanne Kohl
00455004	Fam218Pat84	PubMed: Andersen 2023	family, 2 affected	-	yes	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	PDE6C	2	2	Susanne Kohl
00455005	Fam218Pat85	PubMed: Andersen 2023	sib	-	yes	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	PDE6C	2	1	Susanne Kohl
00455006	Pat91	PubMed: Andersen 2023	patient	-	yes	Denmark	-	-	-	-	-	ACHM	see paper; ...	-	PDE6C	1	1	Susanne Kohl

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Global Variome shared LOVD

SSBP1 (single-stranded DNA binding protein 1, mitoc...)