Disease #01278 (CADASIL (arteriopathy, cerebral, autosomal dominant, with subcortical infarcts and leukoencephalopathy (CADASIL)), OMIM:125310)

Official abbreviation	CADASIL
Name	arteriopathy, cerebral, autosomal dominant, with subcortical infarcts and leukoencephalopathy (CADASIL)
OMIM ID	125310
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	172
Phenotype entries for this disease	170
Associated with 1 gene	NOTCH3
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
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American Samoa
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Andorra
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Angola
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Brazil
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British Indian Ocean Territory
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Brunei Darussalam
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Bulgaria
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Burkina Faso
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Burundi
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Cambodia
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Cameroon
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Canada
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Cape Verde
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Central Europe
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(Chad)
Chile
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China
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Christmas Island
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Cocos (Keeling Islands)
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Congo
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Croatia (Hrvatska)
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Italy
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Japan
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Jordan
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Kenya
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Kiribati
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Korea
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Korea, North (People's Republic)
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Romania
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San Marino
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Saudi Arabia
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Scotland
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Senegal
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Serbia
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Seychelles
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Sierra Leone
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Singapore
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Slovakia (Slovak Republic)
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Slovenia
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Solomon Islands
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Soviet Union (former)
(Soviet Union (former))
Spain
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Sri Lanka
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St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
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Sudan
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Sudan, South
(Sudan, South)
Suriname
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Svalbard and Jan Mayen Islands
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Swaziland
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Sweden
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Switzerland
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Syria
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Taiwan
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Tajikistan
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Tanzania
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Thailand
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Togo
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Tokelau
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Tonga
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Trinidad and Tobago
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Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
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United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
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Uruguay
(Uruguay)
US Minor Outlying Islands
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Uzbekistan
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Vanuatu
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Venezuela
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Viet Nam
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Virgin Islands (British)
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Virgin Islands (US)
(Virgin Islands (US))
Wales
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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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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
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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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Example	Matches
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172 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		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
00052136	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052138	-	-	-	-	-	France	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052139	-	-	-	F	-	Germany	-	-	-	-	-	CADASIL	Ischemic episodes at age 39, mood disorder, epileptic seizures and dementia	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052140	-	-	strokes at 31 yrs of age	-	-	Colombia	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052141	-	-	2 sibs tested	-	-	Italy	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	2	Global Variome, with Curator vacancy
00052142	-	-	3 unrelated patients	-	-	France	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	3	Global Variome, with Curator vacancy
00052143	-	-	60 patients from 18 families, common ancestor	-	-	Finland	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	60	Global Variome, with Curator vacancy
00052144	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052145	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052146	-	-	-	-	-	-	-	-	-	-	-	CADASIL	Minor stroke	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052147	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052148	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052149	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052150	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052151	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052152	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052153	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052154	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052155	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052156	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052157	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052158	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052159	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052160	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052161	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052162	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052163	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052164	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052165	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052166	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052167	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052168	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052169	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052170	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052171	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Martine van Belzen
00052172	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052173	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052174	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052175	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052176	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052177	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052178	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052179	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052180	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052181	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052182	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052183	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052184	-	-	-	F	-	Netherlands	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052185	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052186	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052187	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052188	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052189	-	-	-	-	-	Japan	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052190	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052191	-	-	-	-	-	Japan	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052192	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052193	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052194	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052195	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052196	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052197	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052198	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052199	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052200	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052201	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052202	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052203	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052204	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052205	-	-	-	F	-	-	-	-	-	-	-	CADASIL	Dizziness and vertigo	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052206	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052207	-	-	-	-	-	Netherlands	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052208	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052209	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052210	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052211	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052212	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052213	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052214	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052215	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052216	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052217	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052218	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052219	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052220	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052221	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052222	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052223	-	-	-	-	-	Italy	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052224	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052225	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052226	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052227	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052228	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052229	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052230	-	-	-	-	-	Italy	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052231	-	-	-	-	-	Italy	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052232	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052233	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052234	-	-	-	-	-	Italy	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052235	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy
00052236	-	-	-	-	-	-	-	-	-	-	-	CADASIL	-	NOTCH3	NOTCH3	1	1	Global Variome, with Curator vacancy

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Global Variome shared LOVD