Disease #04300 (FANC (Fanconi anemia (FANC)))

Official abbreviation	FANC
Name	Fanconi anemia (FANC)
OMIM ID	-
Inheritance	Autosomal dominant
Individuals reported having this disease	113
Phenotype entries for this disease	98
Associated with 3 genes	BRIP1, FANCM, RFWD3
Associated tissues	-
Disease features	-
Remarks	-
Date created	2015-07-19 11:40:38 +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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Example	Matches
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113 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
00001617	-	-	-	M	yes	Netherlands	white	-	-	-	-	FANC	growth retardation, microcephaly; patient's cells sensitive to DNA interstrand cross linkers (submitted 2013-07-11 17:27:11)	FANCM	FANCM	1	1	Najim Ameziane
00016307	patient	PubMed: Ameziane 2015	2-generation family, 1 affected	M	no	United States	-	-	-	yes	-	FANC	see paper; ...	RAD51	RAD51	1	1	Najim Ameziane
00020027	EUFA867	PubMed: Meetei 2005, PubMed: Singh 2009	2-generation family, 2 affected sibs, unaffected heterozygous carrier mother	-	?	-	-	-	-	-	-	FANC	-	FANCA, FANCM	FANCA, FANCM	4	2	Arleen D. Auerbach
00046415	-	Pilonetto DV - HC/UFPR (7/9/2015)	-	-	-	-	-	-	-	-	-	FANC	-	FANCA	FANCA	2	1	Daniela Pilonetto
00046416	-	Pilonetto DV - HC/UFPR (7/9/2015)	-	-	-	-	-	-	-	-	-	FANC	-	FANCA	FANCA	2	1	Daniela Pilonetto
00046510	-	Pilonetto DV - HC/UFPR (7/9/2015)	-	-	-	-	-	-	-	-	-	FANC	-	FANCA	FANCA	2	1	Daniela Pilonetto
00046573	-	Pilonetto DV - HC/UFPR (7/9/2015)	-	-	-	-	-	-	-	-	-	FANC	-	FANCG	FANCG	2	1	Daniela Pilonetto
00046574	-	Pilonetto DV - HC/UFPR (7/9/2015)	-	-	-	-	-	-	-	-	-	FANC	-	FANCA	FANCA	2	1	Daniela Pilonetto
00046575	-	Pilonetto DV - HC/UFPR (7/9/2015)	-	-	-	-	-	-	-	-	-	FANC	-	FANCA	FANCA	2	1	Daniela Pilonetto
00046597	-	Pilonetto DV - HC/UFPR (7/9/2015)	-	-	-	-	-	-	-	-	-	FANC	-	FANCA	FANCA	2	1	Daniela Pilonetto
00046598	-	Pilonetto DV - HC/UFPR (7/9/2015)	-	-	-	-	-	-	-	-	-	FANC	-	FANCA	FANCA	2	1	Daniela Pilonetto
00046599	-	Pilonetto DV - HC/UFPR (7/9/2015)	-	-	-	-	-	-	-	-	-	FANC	-	FANCA	FANCA	2	1	Daniela Pilonetto
00046600	-	Pilonetto DV - HC/UFPR (7/9/2015)	-	-	-	-	-	-	-	-	-	FANC	-	FANCA	FANCA	2	1	Daniela Pilonetto
00046608	-	Pilonetto DV - HC/UFPR (7/9/2015)	-	-	-	-	-	-	-	-	-	FANC	-	FANCA	FANCA	2	1	Daniela Pilonetto
00046616	-	Pilonetto DV - HC/UFPR (7/9/2015)	-	-	-	-	-	-	-	-	-	FANC	-	FANCG	FANCG	2	1	Daniela Pilonetto
00046617	-	Pilonetto DV - HC/UFPR (7/9/2015)	-	-	-	-	-	-	-	-	-	FANC	-	FANCG	FANCG	2	1	Daniela Pilonetto
00046618	-	Pilonetto DV - HC/UFPR (7/9/2015)	-	-	-	-	-	-	-	-	-	FANC	-	FANCC	FANCC	2	1	Daniela Pilonetto
00058691	-	-	-	-	-	-	-	-	-	-	-	FANC, NBS	Fanconi anemia, Nijmegen breakage Syndrome	NBN	NBN	1	1	Johan den Dunnen
00060298	-	-	-	M	yes	India	-	-	-	-	-	FANC	Hyperpigmentation, supernumerary thumb with hypoplastic thennar eminence, strabismus eyes	FANCA, FANCC, FANCG	FANCG	1	1	Avani P. Solanki
00063826	-	PubMed: Shamseldin 2012, PubMed: Park 2016, Journal: Park 2016	4-generation family, unaffected heterozygous carrier parents (first cousin)	M	yes	Saudi Arabia	-	-	-	-	-	FANC	0d-left facial nerve palsy, microcephaly, bilaterally absent thumbs, ectopic left kidney, haemodynamically stable patent ductus arteriosus, normal blood indices/karyotype, complete absence first metacarpal and scaphoid bones bilaterally, absent left radius, hypoplastic right radius; followup severe growth deficiency, microcephaly, marked increase dsDNA breaks diepoxybutane test, see 2nd paper; no bone marrow failure (normal haematological counts haemoglobin, thrombocytes, leukocytes, neutrophils), ...	XRCC2	XRCC2	1	1	Johan den Dunnen
00081424	-	PubMed: Bluteau 2016, Journal: Bluteau 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	France	-	-	-	-	-	FANC	severe bone marrow failure (HP:0005528) involving all 3 lineages (hemoglobin, 8.0 g/dl; neutrophil count, 0.43×10ˆ9/l; platelets, 10 × 10^9/l), Fanconi anemia physical signs (short size (HP:0004322) at less than tenth percentile, microcephaly (HP:0000252), abnormal facial features (HP:0000271)), renal tubulopathy (HP:0000091), elevated serum alpha-fetoprotein (HP:0006254), positive mitomycine C (MMC) chromosome breakage test blood lymphocytes	MAD2L2	MAD2L2	1	1	Johan den Dunnen
00102112	-	-	-	F	yes	Palestine	-	>04y	-	YES	-	FANC	Short stature Poor weight gain Increased chromosomal breaks	COX4I1	COX4I1	1	1	Asaf Ta-Shma
00106537	22232082-Fam1Pat1	PubMed: Shamseldin 2012	4-generation family, healthy first cousin parents	M	yes	Saudi Arabia	-	-	-	-	-	FANC	fanconi anemia (FA)	MTBP, RGS3	MTBP, RGS3	2	1	Johan den Dunnen
00119161	28691929-Pat1143	PubMed: Knies 2017, Journal: Knies 2017	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	Germany	-	-	-	-	-	FANC	see paper; ...	RFWD3	RFWD3	2	1	Johan den Dunnen
00397951	HUSCS-FA01	PubMed: Cagnan 2018	patient	M	-	Turkey	-	-	-	-	-	FANC	anemia, + diepoxybutane test, hypospadias, cryptorchidism, deviation to right at IVS and slight enlargement of left ventricle	FANCA	FANCA	1	1	Johan den Dunnen
00397952	HUSCS-FA02	PubMed: Cagnan 2018	patient	F	-	Turkey	-	-	-	-	-	FANC	anemia, + diepoxybutane test, Cafe au lait and hyperpigmentation	FANCA	FANCA	1	1	Johan den Dunnen
00397953	HUSCS-FA03	PubMed: Cagnan 2018	patient	F	-	Turkey	-	-	-	-	-	FANC	anemia, + diepoxybutane test, microphthalmia, hyperpigmentation, left kidney agenesis, hypothyroidism, bilateral hearing loss	FANCA	FANCA	1	1	Johan den Dunnen
00397954	HUSCS-FA04	PubMed: Cagnan 2018	patient	M	-	Turkey	-	-	-	-	-	FANC	anemia, + diepoxybutane test, Cafe au lait, left kidney agenesis and osteopenia	FANCA	FANCA	1	1	Johan den Dunnen
00397955	HUSCS-FA05	PubMed: Cagnan 2018	patient	M	-	Turkey	-	-	-	-	-	FANC	anemia, + diepoxybutane test, microcephaly, microphthalmia, ptosis, cafe au lait and hyperpigmentation	FANCA	FANCA	1	1	Johan den Dunnen
00397956	HUSCS-FA06	PubMed: Cagnan 2018	patient	M	-	Turkey	-	-	-	-	-	FANC	anemia, - diepoxybutane test, extremity anomalies, right ectopic kidney, right hydroureteronephrosis, right extra renal pelvis and patent ductus arteriosus	FANCA	FANCA	1	1	Johan den Dunnen
00397957	HUSCS-FA07	PubMed: Cagnan 2018	patient	F	-	Turkey	-	-	-	-	-	FANC	anemia, - diepoxybutane test, microcephaly, microphthalmia, cafe au lait, hyperpigmentation, left ectopic kidney and growth retardation	FANCA	FANCA	1	1	Johan den Dunnen
00397958	HUSCS-FA08	PubMed: Cagnan 2018	patient	M	-	Turkey	-	-	-	-	-	FANC	anemia, + diepoxybutane test, extremity anomalies, unilateral kidney agenesis, atrial septal defect, ventricular septal defect, hypothyroidism and cryptorchidism	FANCG	FANCG	1	1	Johan den Dunnen
00397959	HUSCS-FA09a	PubMed: Cagnan 2018	2-generation family, 2 affected sibs	F	-	Turkey	-	-	-	-	-	FANC	anemia, + diepoxybutane test, microcephaly, hyperpigmentation, left kidney agenesis, growth retardation and hyperglycemia	FANCD2	FANCD2	1	1	Johan den Dunnen
00397960	HUSCS-FA09b	PubMed: Cagnan 2018	sib	M	-	Turkey	-	-	-	-	-	FANC	anemia, + diepoxybutane test, hydrocephaly, microphthalmia, ptosis, hyper/hypopigmentation, cafe au lait, cortical cyst and osteoporosis	FANCD2	FANCD2	1	1	Johan den Dunnen
00397961	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	21	Johan den Dunnen
00397962	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	24	Johan den Dunnen
00397963	-	PubMed: Magdalena 2005, PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	13	Johan den Dunnen
00397964	-	PubMed: Magdalena 2005, PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	11	Johan den Dunnen
00397965	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	3	Johan den Dunnen
00397966	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	3	Johan den Dunnen
00397967	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	2	Johan den Dunnen
00397968	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	4	Johan den Dunnen
00397969	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	3	Johan den Dunnen
00397970	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	2	Johan den Dunnen
00397971	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	1	Johan den Dunnen
00397972	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	2	Johan den Dunnen
00397973	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCC	FANCC	1	4	Johan den Dunnen
00397974	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCC	FANCC	1	2	Johan den Dunnen
00397975	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCC	FANCC	1	1	Johan den Dunnen
00397976	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCG	FANCG	1	2	Johan den Dunnen
00397977	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCC	FANCC	1	2	Johan den Dunnen
00397978	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCC	FANCC	1	2	Johan den Dunnen
00397979	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCG	FANCG	1	7	Johan den Dunnen
00397980	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	1	Johan den Dunnen
00397981	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	2	Johan den Dunnen
00397982	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	1	Johan den Dunnen
00397983	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	3	Johan den Dunnen
00397984	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	1	Johan den Dunnen
00397985	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	1	Johan den Dunnen
00397986	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	9	Johan den Dunnen
00397987	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	4	Johan den Dunnen
00397988	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	1	Johan den Dunnen
00397989	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	11	Johan den Dunnen
00397990	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	1	Johan den Dunnen
00397991	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	1	Johan den Dunnen
00397992	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	1	Johan den Dunnen
00397993	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	1	Johan den Dunnen
00397994	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	1	Johan den Dunnen
00397995	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	9	Johan den Dunnen
00397996	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	2	Johan den Dunnen
00397997	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	1	Johan den Dunnen
00397998	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	1	Johan den Dunnen
00397999	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	1	Johan den Dunnen
00398000	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	1	Johan den Dunnen
00398001	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	2	Johan den Dunnen
00398002	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	101	Johan den Dunnen
00398003	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	2	Johan den Dunnen
00398004	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	1	Johan den Dunnen
00398005	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	1	Johan den Dunnen
00398006	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	2	Johan den Dunnen
00398007	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	1	Johan den Dunnen
00398008	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	1	Johan den Dunnen
00398009	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	1	Johan den Dunnen
00398010	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	1	Johan den Dunnen
00398011	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	1	Johan den Dunnen
00398012	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	1	Johan den Dunnen
00398013	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	1	Johan den Dunnen
00398014	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	3	Johan den Dunnen
00398015	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	1	Johan den Dunnen
00398016	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	1	Johan den Dunnen
00398017	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCA	FANCA	1	1	Johan den Dunnen
00398018	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCC	FANCC	1	8	Johan den Dunnen
00398019	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCC	FANCC	1	1	Johan den Dunnen
00398020	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCC	FANCC	1	1	Johan den Dunnen
00398021	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCC	FANCC	1	1	Johan den Dunnen
00398022	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCC	FANCC	1	6	Johan den Dunnen
00398023	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCC	FANCC	1	1	Johan den Dunnen
00398024	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCC	FANCC	1	4	Johan den Dunnen
00398025	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCG	FANCG	1	1	Johan den Dunnen
00398026	-	PubMed: Pilonetto 2017	-	-	-	Brazil	-	-	-	-	-	FANC	-	FANCG	FANCG	1	1	Johan den Dunnen

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Global Variome shared LOVD

ALDH1A1 (aldehyde dehydrogenase 1 family, member A1)