All individuals with variants in gene DYNC2H1

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.

131 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	Variants	Panel size	Owner
00016506	-	PubMed: Ellard 2015, Journal: Ellard 2015	5 affected fetuses, from the same couple (unaffected heterozygous carrier), all terminated at 15-20 weeks gestation	-	no	United Kingdom (Great Britain)	-	00y00m00d	-	-	-	SRTD3	-	2	5	Hana Lango-Allen
00058511	-	-	-	M	no	Brazil	-	-	-	-	-	SRTD3	-	2	1	Karina Silveira
00058521	-	-	-	M	no	Brazil	-	-	-	-	-	SRTD3	-	2	1	Karina Silveira
00058522	Pat20	PubMed: Silveira 2021, Journal: Silveira 2021	-	F	no	Brazil	-	-	-	-	-	SRTD3	-	2	1	Karina Silveira
00058523	Pat21	PubMed: Silveira 2021, Journal: Silveira 2021	-	M	no	Brazil	-	-	-	-	-	SRTD1, SRTD3	-	2	1	Karina Silveira
00095116	-	-	-	F	?	-	-	-	-	Yes	-	SRTD3	-	2	1	Karen Stals
00132078	9	-	-	M	no	Brazil	-	-	-	-	-	SRTD3	-	2	1	Karina Silveira
00290204	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	103	Mohammed Faruq
00290205	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	5	Mohammed Faruq
00290206	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	5	Mohammed Faruq
00303382	Pat1	Vig ESHG2020 C06.5, PubMed: Vig 2020	2-generation family, 1 affected	F	-	Canada	-	-	-	-	-	retinal disease	see paper; ..., non-syndromic autosomal recessive retinitis pigmentosa	2	1	Johan den Dunnen
00303383	Pat2	Vig ESHG2020 C06.5, PubMed: Vig 2020	4-generation family, 2 affected (2M)	M	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	see paper; ..., non-syndromic autosomal recessive retinitis pigmentosa	1	2	Johan den Dunnen
00303384	Pat3	Vig ESHG2020 C06.5, PubMed: Vig 2020	3-generation family, 1 affected	M	yes	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	see paper; ..., non-syndromic autosomal recessive retinitis pigmentosa	1	1	Johan den Dunnen
00303385	Pat4	Vig ESHG2020 C06.5, PubMed: Vig 2020	3-generation family, 1 affected	F	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	see paper; ..., non-syndromic autosomal recessive retinitis pigmentosa	1	1	Johan den Dunnen
00303386	Pat5	Vig ESHG2020 C06.5, PubMed: Vig 2020	2-generation family, 1 affected	F	-	Poland	-	-	-	-	-	retinal disease	see paper; ..., non-syndromic autosomal recessive retinitis pigmentosa	2	1	Johan den Dunnen
00304279	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00331419	13DG0151	PubMed: Maddirevula 2018	family	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Intrauterine growth retardation, Narrow chest, Abnormality of the renal pelvis	1	1	LOVD
00331420	15DG1678	PubMed: Maddirevula 2018	family	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Pulmonary hypoplasia, Recurrent respiratory infections, Generalized hypotonia, Failure toYes	1	1	LOVD
00331421	17DG0795	PubMed: Maddirevula 2018	isolated case	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Short stature, Narrow chest, Short ribs	1	1	LOVD
00331422	17DG0796	PubMed: Maddirevula 2018	isolated case	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Anal atresia, Perineal fistula, Ventricular septal defect, Atrial septal defect, Feeding difficulYes	1	1	LOVD
00359450	-	-	-	-	-	(Brazil)	-	-	-	-	-	SRTD	-	1	1	Cynthia Silveira
00359451	-	-	-	-	-	(Brazil)	-	-	-	-	-	SRTD	-	1	1	Cynthia Silveira
00359495	-	-	-	-	-	Brazil	-	-	-	-	-	SRTD	-	1	1	Karina Silveira
00359496	-	-	-	-	-	Brazil	-	-	-	-	-	EVC	-	1	1	Karina Silveira
00359644	Pat2	PubMed: Tang 2021	fetus, previous pregnancy with short long bones and narrow thorax	-	-	China	-	-	-	-	-	skeletal dysplasia	25w-fetus narrow thorax thoracic circumference 118mm, short long bones, femur length 23 mm, umerus length 19 mm, polydactylia; renal sinus separation	2	1	Johan den Dunnen
00377051	182209	-	prenatal Dx after abnormal ultatrasound	F	no	Turkey	-	-	-	-	-	SRTD3	Short ribs, Abnormal skull morphology, Short femur, Dilation of lateral ventricles	2	1	Andreas Laner
00377259	376	Tracewska 2021, MolVis in press	proband	F	no	Poland	Slavic	-	-	yes	-	retinal disease	see paper	2	1	LOVD
00379747	IR_GH_0089	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	LCA	HP:0032122, HP:0001133, HP:0000639, HP:0001483, HP:0001100, HP:0000510	2	1	Jinu Han
00388319	R01-362	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	polydactyly	2	1	LOVD
00388320	R06-012	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	polydactyly	2	1	LOVD
00388321	R06-129A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	polydactyly	2	1	LOVD
00388322	R00-015	PubMed: Zhang-2019	-	-	-	-	Latino	-	-	-	-	?	-	1	1	LOVD
00388323	R00-113A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388324	R00-277	PubMed: Zhang-2019	-	-	-	-	African American	-	-	-	-	?	-	2	1	LOVD
00388325	R00-280	PubMed: Zhang-2019	-	-	-	-	African American	-	-	-	-	?	polydactyly	2	1	LOVD
00388326	R00-294A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388327	R00-407A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388328	R01-114	PubMed: Zhang-2019	-	-	-	-	African American	-	-	-	-	?	-	2	1	LOVD
00388329	R01-241B	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388330	R01-489A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	polydactyly	2	1	LOVD
00388331	R02-122A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	polydactyly	2	1	LOVD
00388332	R02-181	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388333	R02-217A	PubMed: Zhang-2019	-	-	-	-	Latino	-	-	-	-	?	-	2	1	LOVD
00388334	R02-319	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388335	R02-420	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388336	R02-429A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388337	R03-270A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388338	R03-376A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	polydactyly	2	1	LOVD
00388339	R04-211A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	polydactyly	2	1	LOVD
00388340	R04-306A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	polydactyly	2	1	LOVD
00388341	R05-008	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	polydactyly	2	1	LOVD
00388342	R05-244A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388343	R06-417	PubMed: Zhang-2019	-	-	-	-	East Asian	-	-	-	-	?	-	2	1	LOVD
00388344	R06-527A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388345	R06-537A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	polydactyly	2	1	LOVD
00388346	R07-104A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	polydactyly	2	1	LOVD
00388347	R07-610A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388348	R08-012	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388349	R08-151B	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388350	R08-197A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388351	R08-307	PubMed: Zhang-2019	-	-	-	-	Latino	-	-	-	-	?	polydactyly	2	1	LOVD
00388352	R08-327A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	polydactyly	2	1	LOVD
00388353	R08-328A	PubMed: Zhang-2019	-	-	-	-	Latino	-	-	-	-	?	polydactyly	2	1	LOVD
00388354	R08-354A	PubMed: Zhang-2019	-	-	-	-	South Asian	-	-	-	-	?	-	2	1	LOVD
00388355	R08-455A	PubMed: Zhang-2019	-	-	-	-	Latino	-	-	-	-	?	-	2	1	LOVD
00388356	R08-583A	PubMed: Zhang-2019	-	-	-	-	East Asian	-	-	-	-	?	-	2	1	LOVD
00388357	R09-266	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	polydactyly	2	1	LOVD
00388358	R09-291A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388359	R09-352A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388360	R09-588A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388361	R10-157A	PubMed: Zhang-2019	-	-	-	-	East Asian	-	-	-	-	?	polydactyly	2	1	LOVD
00388362	R10-506A	PubMed: Zhang-2019	-	-	-	-	African American	-	-	-	-	?	-	2	1	LOVD
00388363	R10-554	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388364	R11-061A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388365	R11-349A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	polydactyly	2	1	LOVD
00388366	R11-447A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	polydactyly	2	1	LOVD
00388367	R12-038A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388368	R13-033	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	polydactyly	2	1	LOVD
00388369	R13-229A	PubMed: Zhang-2019	-	-	-	-	African American	-	-	-	-	?	polydactyly	2	1	LOVD
00388370	R14-109	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	polydactyly	2	1	LOVD
00388371	R86-127	PubMed: Zhang-2019	-	-	-	-	East Asian	-	-	-	-	?	-	2	1	LOVD
00388372	R88-019C	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388373	R90-004	PubMed: Zhang-2019	-	-	-	-	Latino	-	-	-	-	?	-	1	1	LOVD
00388374	R93-175	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388375	R95-033	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	polydactyly	2	1	LOVD
00388376	R96-155A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388377	R96-159	PubMed: Zhang-2019	-	-	-	-	Latino	-	-	-	-	?	-	2	1	LOVD
00388378	R97-154	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388379	R97-244	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	polydactyly	2	1	LOVD
00388380	R97-258	PubMed: Zhang-2019	-	-	-	-	South Asian	-	-	-	-	?	-	2	1	LOVD
00388381	R97-299	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	polydactyly	2	1	LOVD
00388382	R97-309A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388383	R99-040A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388384	R99-055	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	polydactyly	2	1	LOVD
00388385	R99-220A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	polydactyly	2	1	LOVD
00388386	R99-314A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	polydactyly	2	1	LOVD
00388387	R99-394	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388388	R11-630	PubMed: Zhang-2019	-	-	-	-	Latino	-	-	-	-	?	polydactyly	1	1	LOVD
00388389	R00-421A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	polydactyly	2	1	LOVD
00388390	R07-552A	PubMed: Zhang-2019	-	-	-	-	Latino	-	-	-	-	?	-	2	1	LOVD

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Global Variome shared LOVD

DYNC2H1 (dynein, cytoplasmic 2, heavy chain 1)