Disease #01173 (amyloidosis, hereditary, transthyretin-related, OMIM:105210)

Official abbreviation	-
Name	amyloidosis, hereditary, transthyretin-related
OMIM ID	105210
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	613
Phenotype entries for this disease	613
Associated with 1 gene	TTR
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

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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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\|	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
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>=	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
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Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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613 entries on 7 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7		Next ›	Last »

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
00038827	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	8	1	Carolina Lemos
00038828	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	13	1	Carolina Lemos
00038831	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, RBP4	APCS, AR	4	1	Carolina Lemos
00038832	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	8	1	Carolina Lemos
00038834	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR	5	1	Carolina Lemos
00038835	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR	4	1	Carolina Lemos
00038836	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, RBP4	10	1	Carolina Lemos
00038837	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, RBP4	8	1	Carolina Lemos
00038838	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	6	1	Carolina Lemos
00038839	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR	5	1	Carolina Lemos
00038840	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	12	1	Carolina Lemos
00038841	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	10	1	Carolina Lemos
00038842	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	11	1	Carolina Lemos
00038843	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	11	1	Carolina Lemos
00038844	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	7	1	Carolina Lemos
00038845	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	12	1	Carolina Lemos
00038846	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	7	1	Carolina Lemos
00038847	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	AR, HSD17B1	6	1	Carolina Lemos
00038848	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	10	1	Carolina Lemos
00038849	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	10	1	Carolina Lemos
00038850	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	9	1	Carolina Lemos
00038851	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	11	1	Carolina Lemos
00038852	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	13	1	Carolina Lemos
00038853	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	9	1	Carolina Lemos
00038854	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	6	1	Carolina Lemos
00038856	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	6	1	Carolina Lemos
00038857	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	11	1	Carolina Lemos
00038858	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	5	1	Carolina Lemos
00038859	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	7	1	Carolina Lemos
00038860	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	7	1	Carolina Lemos
00038861	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	6	1	Carolina Lemos
00038862	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	7	1	Carolina Lemos
00038863	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, RBP4	12	1	Carolina Lemos
00038864	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	7	1	Carolina Lemos
00038865	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	10	1	Carolina Lemos
00038866	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR	7	1	Carolina Lemos
00038867	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	7	1	Carolina Lemos
00038868	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	5	1	Carolina Lemos
00038869	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	12	1	Carolina Lemos
00038870	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	7	1	Carolina Lemos
00038871	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	6	1	Carolina Lemos
00038872	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	7	1	Carolina Lemos
00038873	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	11	1	Carolina Lemos
00038874	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	10	1	Carolina Lemos
00038875	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	11	1	Carolina Lemos
00038876	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	11	1	Carolina Lemos
00038878	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	7	1	Carolina Lemos
00038879	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR	2	1	Carolina Lemos
00038880	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	8	1	Carolina Lemos
00038881	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	12	1	Carolina Lemos
00038882	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	11	1	Carolina Lemos
00038883	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR	4	1	Carolina Lemos
00038884	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	13	1	Carolina Lemos
00038885	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	8	1	Carolina Lemos
00038886	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	5	1	Carolina Lemos
00038887	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	6	1	Carolina Lemos
00038888	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	7	1	Carolina Lemos
00038889	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	9	1	Carolina Lemos
00038890	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	8	1	Carolina Lemos
00038892	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, RBP4	8	1	Carolina Lemos
00038893	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, RBP4	8	1	Carolina Lemos
00038894	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR	6	1	Carolina Lemos
00038895	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	6	1	Carolina Lemos
00038896	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR	5	1	Carolina Lemos
00038897	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	11	1	Carolina Lemos
00038898	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	8	1	Carolina Lemos
00038899	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	8	1	Carolina Lemos
00038900	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	6	1	Carolina Lemos
00038901	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	7	1	Carolina Lemos
00038902	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	11	1	Carolina Lemos
00038903	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	9	1	Carolina Lemos
00038904	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	11	1	Carolina Lemos
00038905	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	8	1	Carolina Lemos
00038906	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, RBP4	6	1	Carolina Lemos
00038907	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	6	1	Carolina Lemos
00038908	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	7	1	Carolina Lemos
00038909	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	8	1	Carolina Lemos
00038910	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	6	1	Carolina Lemos
00038911	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR	4	1	Carolina Lemos
00038912	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR	4	1	Carolina Lemos
00038913	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1	7	1	Carolina Lemos
00038914	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, RBP4	9	1	Carolina Lemos
00038915	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, RBP4	6	1	Carolina Lemos
00038916	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	12	1	Carolina Lemos
00038919	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	12	1	Carolina Lemos
00038920	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	11	1	Carolina Lemos
00038921	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	10	1	Carolina Lemos
00038922	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	AR, HSD17B1, RBP4	AR	3	1	Carolina Lemos
00038923	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, RBP4	10	1	Carolina Lemos
00038924	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	11	1	Carolina Lemos
00038926	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	9	1	Carolina Lemos
00038929	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	11	1	Carolina Lemos
00038931	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, RBP4	10	1	Carolina Lemos
00038932	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	11	1	Carolina Lemos
00038934	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	9	1	Carolina Lemos
00038935	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, RBP4	9	1	Carolina Lemos
00038937	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	AR	AR	4	1	Carolina Lemos
00038938	-	-	-	F	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, HSD17B1, RBP4	11	1	Carolina Lemos
00038942	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, RBP4	7	1	Carolina Lemos
00038944	-	-	-	M	-	Portugal	-	-	-	-	-	amyloidosis, hereditary, transthyretin-related	-	APCS, AR, HSD17B1, RBP4	APCS, AR, RBP4	9	1	Carolina Lemos

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Global Variome shared LOVD

MLKL (mixed lineage kinase domain-like)