All individuals with variants in gene MYH9

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.

56 entries on 1 page. Showing entries 1 - 56.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00003001	-	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	?	progressive hearing loss	1	1	Marcel Nelen
00059154	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	1	1	Manou Sommen
00059155	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	1	1	Manou Sommen
00080004	-	PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017	-	-	-	-	-	-	-	-	-	deafness	-	1	1	Mieke Wesdorp
00234419	Fam1PatI1	PubMed: De Rocco 2013	2-generation family, 3 affected (2F, M)	F	-	-	-	-	-	-	-	MATINS;MHA;BDPLT6	platelet count 30x10*9/L, giant platelets (HP:0001902), leukocyte inclusions (HP:0040235), normal bleeding time (-HP:0003010), no bleeding diathesis (-HP:0001892), no proteinuria (-HP:0000093), no renal failure (-HP:0000083), bilateral sensorineural hearing loss (HP:0008619), no cataract (-HP:0000518)	1	3	Johan den Dunnen
00234420	Fam1PatI2	PubMed: De Rocco 2013	PatI2	F	-	-	-	-	-	-	-	MATINS;MHA;BDPLT6	platelet count 40x10*9/L, giant platelets (HP:0001902), leukocyte inclusions (HP:0040235), normal bleeding time (-HP:0003010), no bleeding diathesis (-HP:0001892), no proteinuria (-HP:0000093), no renal failure (-HP:0000083), bilateral sensorineural hearing loss (HP:0008619), bilateral cataract (HP:0000518)	1	1	Johan den Dunnen
00234421	Fam1PatII1	PubMed: De Rocco 2013	PatII1	M	-	-	-	-	-	-	-	MATINS;MHA;BDPLT6	platelet count 72x10*9/L, giant platelets (HP:0001902), leukocyte inclusions (HP:0040235), normal bleeding time (-HP:0003010), no bleeding diathesis (-HP:0001892), no proteinuria (-HP:0000093), no renal failure (-HP:0000083), no sensorineural hearing loss (-HP:0000407), no cataract (-HP:0000518)	1	1	Johan den Dunnen
00234422	Fam2PatII1	PubMed: De Rocco 2013	2-generation family, affected boy	M	-	-	-	-	-	-	-	MATINS;MHA;BDPLT6	platelet count 25x10*9/L, giant platelets (HP:0001902), leukocyte inclusions (HP:0040235), increased bleeding time (HP:0003010), easy bruising, epistaxis, bleeding after teeth extraction, proteinuria (HP:0000093), no renal failure (-HP:0000083), bilateral sensorineural hearing loss (HP:0008619), no cataract (-HP:0000518)	1	1	Johan den Dunnen
00234423	Fam3PatI2	PubMed: De Rocco 2013	2-generation family, affected mother/son	F	-	-	-	-	-	-	-	MATINS;MHA;BDPLT6	platelet count 85x10*9/L, giant platelets (HP:0001902), leukocyte inclusions (HP:0040235), easy bruising, menorrhagia, epistaxis, no proteinuria (-HP:0000093), no renal failure (-HP:0000083), no sensorineural hearing loss (-HP:0000407), no cataract (-HP:0000518)	1	2	Johan den Dunnen
00234424	Fam3PatII1	PubMed: De Rocco 2013	PatII1	M	-	-	-	-	-	-	-	MATINS;MHA;BDPLT6	platelet count 96x10*9/L, giant platelets (HP:0001902), leukocyte inclusions (HP:0040235), no bleeding diathesis (-HP:0001892), no proteinuria (-HP:0000093), no renal failure (-HP:0000083), no sensorineural hearing loss (-HP:0000407)	1	1	Johan den Dunnen
00234425	Fam4PatI1	PubMed: Hirata 2013	2-generation family, affected father/daughter	M	-	-	-	-	-	-	-	MATINS;MHA;BDPLT6	platelet count 116x10*9/L, giant platelets (HP:0001902), leukocyte inclusions (HP:0040235), increased bleeding time (HP:0003010), easy bruising, gum bleeding, no proteinuria (-HP:0000093), no renal failure (-HP:0000083), no sensorineural hearing loss (-HP:0000407), no cataract (-HP:0000518)	1	2	Johan den Dunnen
00234426	Fam4PatII1	PubMed: Hirata 2013	PatII1	F	-	-	-	-	-	-	-	MATINS;MHA;BDPLT6	platelet count 123x10*9/L, giant platelets (HP:0001902), leukocyte inclusions (HP:0040235), increased bleeding time (HP:0003010), epistaxis, bleeding after surgery and loss milk tooth, no proteinuria (-HP:0000093), no renal failure (-HP:0000083), no sensorineural hearing loss (-HP:0000407), no cataract (-HP:0000518)	1	1	Johan den Dunnen
00234427	Fam5PatI1	PubMed: Hirata 2013	-	M	-	-	-	-	-	-	-	MATINS;MHA;BDPLT6	platelet count 65x10*9/L, giant platelets (HP:0001902), leukocyte inclusions (HP:0040235), easy bruising, epistaxis, no proteinuria (-HP:0000093), no renal failure (-HP:0000083), no sensorineural hearing loss (-HP:0000407), no cataract (-HP:0000518)	1	1	Johan den Dunnen
00234432	-	PubMed: Kahr 2009	-	-	-	Canada	-	-	-	-	-	MATINS;MHA;BDPLT6	see paper; ..., abnormal platelet function, granulocytes and megakaryocytes (not platelets) with inclusions	1	1	Johan den Dunnen
00234433	Fam1	PubMed: Vettore 2010	-	F	-	Italy	-	-	-	-	-	MATINS;MHA;BDPLT6	see paper; ..., thrombocytopenia, mild mucocutaneous bleeding	1	1	Johan den Dunnen
00234434	Fam2	PubMed: Vettore 2010	no family history	F	-	Cuba	-	-	-	-	-	MATINS;MHA;BDPLT6	see paper; ..., thrombocytopenia discovered by chance during check-up, no unusual susceptibility to bleeding, diagnosed with immune thrombocytopenic purpura	1	1	Johan den Dunnen
00234436	Fam1	PubMed: Seri 2003	-	-	-	Italy	-	-	-	-	-	MATINS;MHA;BDPLT6	see paper; …	1	1	Johan den Dunnen
00234437	Fam2	PubMed: Seri 2003	family, 2 affected	-	-	Italy	-	-	-	-	-	MATINS;MHA;BDPLT6	see paper; …	1	2	Johan den Dunnen
00234438	Fam3	PubMed: Seri 2003	family, 10 affected	-	-	Italy	-	-	-	-	-	MATINS;MHA;BDPLT6	see paper; …	1	10	Johan den Dunnen
00234439	Fam4	PubMed: Seri 2003	family, 4 affected	-	-	Italy	-	-	-	-	-	MATINS;MHA;BDPLT6	see paper; …	1	4	Johan den Dunnen
00234440	Fam5	PubMed: Seri 2003	-	-	-	Italy	-	-	-	-	-	MATINS;MHA;BDPLT6	see paper; …	2	1	Johan den Dunnen
00234441	Fam7	PubMed: Seri 2003	-	-	-	Italy	-	-	-	-	-	MATINS;MHA;BDPLT6	see paper; …	1	1	Johan den Dunnen
00234442	Fam8	PubMed: Seri 2003	-	-	-	Italy	-	-	-	-	-	MATINS;MHA;BDPLT6	see paper; …	1	1	Johan den Dunnen
00234443	Fam9	PubMed: Seri 2003	family, 4 affected	-	-	Italy	-	-	-	-	-	MATINS;MHA;BDPLT6	see paper; …	1	4	Johan den Dunnen
00234444	Fam10	PubMed: Seri 2003	family, 2 affected	-	-	Italy	-	-	-	-	-	MATINS;MHA;BDPLT6	see paper; …	1	2	Johan den Dunnen
00234445	Fam11	PubMed: Seri 2003	-	-	-	Italy	-	-	-	-	-	MATINS;MHA;BDPLT6	see paper; …	1	1	Johan den Dunnen
00234446	Fam13	PubMed: Seri 2003	-	-	-	Italy	-	-	-	-	-	MATINS;MHA;BDPLT6	see paper; …	1	1	Johan den Dunnen
00234447	Fam14	PubMed: Seri 2003	-	-	-	Italy	-	-	-	-	-	MATINS;MHA;BDPLT6	see paper; …	1	1	Johan den Dunnen
00234448	Fam15	PubMed: Seri 2003	family, 2 affected	-	-	Italy	-	-	-	-	-	MATINS;MHA;BDPLT6	see paper; …	1	2	Johan den Dunnen
00234449	Fam16	PubMed: Seri 2003	-	-	-	Italy	-	-	-	-	-	MATINS;MHA;BDPLT6	see paper; …	1	1	Johan den Dunnen
00234450	Fam17	PubMed: Seri 2003	family, 3 affected	-	-	Italy	-	-	-	-	-	MATINS;MHA;BDPLT6	see paper; …	1	3	Johan den Dunnen
00234451	Fam18	PubMed: Seri 2003	family, 2 affected	-	-	Italy	-	-	-	-	-	MATINS;MHA;BDPLT6	see paper; …	1	2	Johan den Dunnen
00234452	Fam19	PubMed: Seri 2003	family, 5 affected	-	-	Italy	-	-	-	-	-	MATINS;MHA;BDPLT6	see paper; …	1	5	Johan den Dunnen
00234453	Fam20	PubMed: Seri 2003	family, 2 affected	-	-	Italy	-	-	-	-	-	MATINS;MHA;BDPLT6	see paper; …	1	2	Johan den Dunnen
00234454	Fam21	PubMed: Seri 2003	family, 2 affected	-	-	Italy	-	-	-	-	-	MATINS;MHA;BDPLT6	see paper; …	1	2	Johan den Dunnen
00234457	FamAPat1	PubMed: Pujol-Moix 2004	family, 2 affected	F	-	Spain	-	-	-	-	-	MATINS;MHA;BDPLT6	see paper; …	1	2	Johan den Dunnen
00234458	FamBPat3	PubMed: Pujol-Moix 2004	family, 2 affected	F	-	Spain	-	-	-	-	-	MATINS;MHA;BDPLT6	see paper; …	1	2	Johan den Dunnen
00234459	FamCPat5	PubMed: Pujol-Moix 2004	family, 2 affected	F;M	-	Spain	-	-	-	-	-	MATINS;MHA;BDPLT6	see paper; …	1	2	Johan den Dunnen
00234460	FamDPat7	PubMed: Pujol-Moix 2004	family, 2 affected	F	-	Spain	-	-	-	-	-	MATINS;MHA;BDPLT6	see paper; …	1	3	Johan den Dunnen
00234461	FamEPat10	PubMed: Pujol-Moix 2004	-	M	-	Spain	-	-	-	-	-	MATINS;MHA;BDPLT6	see paper; …	1	1	Johan den Dunnen
00293104	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	4	Mohammed Faruq
00293105	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00296861	-	-	-	F	-	-	-	-	-	-	-	?	Renal insufficiency (HP:0000083); Proteinuria (HP:0000093); Hearing impairment (HP:0000365)	1	1	Andreas Laner
00383384	1_III-1	PubMed: Wang 2019	Family 1, individual III-1	F	-	China	-	-	-	-	-	CCTRCT	Nuclear cataract	1	1	LOVD
00383385	1_II-2	PubMed: Wang 2019	Family 1, individual II-2	F	-	China	-	-	-	-	-	CCTRCT	Spot-like cataract in the peripheral area of the lens	1	1	LOVD
00426622	?	PubMed: Peng 2016	-	-	-	Taiwan	Taiwanese	-	-	-	-	OFC	left cleft lip with palate	1	1	LOVD
00426623	?	PubMed: Peng 2016	-	-	-	Taiwan	Taiwanese	-	-	-	-	OFC	left cleft lip with palate	1	1	LOVD
00426624	?	PubMed: Peng 2016	-	-	-	Taiwan	Taiwanese	-	-	-	-	OFC	bilateral cleft palate	1	1	LOVD
00426625	?	PubMed: Peng 2016	-	-	-	Taiwan	Taiwanese	-	-	-	-	OFC	right cleft lip	1	1	LOVD
00426626	?	PubMed: Peng 2016	-	-	-	Taiwan	Taiwanese	-	-	-	-	OFC	bilateral cleft palate	1	1	LOVD
00426627	?	PubMed: Peng 2016	-	-	-	Taiwan	Taiwanese	-	-	-	-	OFC	left cleft lip with palate	1	1	LOVD
00433116	Pat94,1	PubMed: Stray-Pedersen 2017	-	F	-	Norway	-	-	-	-	-	IMD	neutrophil defect or congenital condition with bone marrow failure such as dyskeratosis congenita and Fanconi-like phenotype, anemia and thrombocytopenia	1	1	Johan den Dunnen
00441519	6403	PubMed: Boucher 2020	-	-	-	France	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441539	PAR106	PubMed: Boucher 2020	-	-	-	France	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00448671	-	-	-	-	-	(China)	-	-	-	-	-	GEFSP2;FEB3A, MATINS;MHA;BDPLT6	-	1	1	Xaohong Qiao
00465573	DE2721	PubMed: Wu 2013	3-generation family, 1 affected (2F, 3M)	F;M	-	Taiwan	-	-	-	-	-	HL	see paper; ...	1	5	Johan den Dunnen

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Global Variome shared LOVD

MYH9 (myosin, heavy chain 9, non-muscle)