Data for reference DOI:10.1038/s41431-021-00948-0

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Effect: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.

Allele: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.

Classification method: The method used for the clinical classification of this variant.
All options:

ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other

Clinical classification: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:

pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
conflicting
association
NA

DNA change (genomic) (hg19): HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup

DNA change (hg38): HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup

Published as: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)

ISCN: description of the variant according to ISCN nomenclature

DB-ID: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro

Variant remarks: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.

Reference: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

ClinVar ID: ID of variant in ClinVar database

dbSNP ID: the dbSNP ID

Origin: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:

Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable

Segregation: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:

? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable

Frequency: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)

Re-site: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-

VIP: variant 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.

Methylation: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)

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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'

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14 entries on 1 page. Showing entries 1 - 14.

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Effect	Chr	Classification method	Clinical classification	DNA change (genomic) (hg19)	DNA change (hg38)	Published as	ISCN	DB-ID	Variant remarks	ClinVar ID	dbSNP ID	Origin	Segregation	Frequency	Re-site	VIP	Methylation	Owner
+/.	6	-	pathogenic (dominant)	g.149699670dup	g.149378534dup	-	-	TAB2_000019	linked to variant 610078 VKGL initiative	-	-	De novo	-	-	-	-	-	Aafke Engwerda
+/.	6	-	pathogenic (dominant)	g.149699733C>T	g.149378597C>T	-	-	TAB2_000020	linked to variant 610079 VKGL initiative; variant not maternal	-	-	Germline/De novo (untested)	-	-	-	-	-	Aafke Engwerda
+/.	6	-	pathogenic (dominant)	g.149699936_149699937del	g.149378800_149378801del	-	-	TAB2_000009	linked to variant 720715 VKGL initiative	-	-	Germline/De novo (untested)	-	-	-	-	-	Aafke Engwerda
+/.	6	-	pathogenic (dominant)	g.149699936_149699937del	g.149378800_149378801del	-	-	TAB2_000009	linked to variant 720715 VKGL initiative	-	-	Germline	-	-	-	-	-	Aafke Engwerda
+/.	6	-	pathogenic (dominant)	g.149699936_149699937del	g.149378800_149378801del	-	-	TAB2_000009	linked to variant 720715 VKGL initiative	-	-	Germline	-	-	-	-	-	Aafke Engwerda
+/.	6	-	pathogenic (dominant)	g.149699950C>A	g.149378814C>A	-	-	TAB2_000010	linked to variants 348920/720716 (same family) VKGL initiative	-	-	Germline/De novo (untested)	-	-	-	-	-	Aafke Engwerda
+/.	6	-	pathogenic (dominant)	g.149699950C>A	g.149378814C>A	-	-	TAB2_000010	linked to variants 348920/720716 (same family) VKGL initiative	-	-	Germline	-	-	-	-	-	Aafke Engwerda
+/.	6	-	pathogenic (dominant)	g.149699950C>A	g.149378814C>A	-	-	TAB2_000010	linked to variants 348920/720716 (same family) VKGL initiative	-	-	Germline	-	-	-	-	-	Aafke Engwerda
+/.	6	-	pathogenic (dominant)	g.149699950C>A	g.149378814C>A	-	-	TAB2_000010	linked to variants 348920/720716 (same family) VKGL initiative	-	-	Germline	-	-	-	-	-	Aafke Engwerda
+/.	6	-	pathogenic (dominant)	g.149699950C>A	g.149378814C>A	-	-	TAB2_000010	linked to variants 348920/720716 (same family) VKGL initiative	-	-	Germline	-	-	-	-	-	Aafke Engwerda
+/.	6	-	pathogenic (dominant)	g.149699950C>A	g.149378814C>A	-	-	TAB2_000010	linked to variants 348920/720716 (same family) VKGL initiative	-	-	Germline	-	-	-	-	-	Aafke Engwerda
+/.	6	-	pathogenic (dominant)	g.149700278dup	g.149379142dup	-	-	SUMO4_000005	linked to variant 720717 VKGL initiative (c.1227dup)	-	-	De novo	-	-	-	-	-	Aafke Engwerda
+/.	6	-	pathogenic (dominant)	g.149700278dup	g.149379142dup	-	-	SUMO4_000005	linked to variant 720717 VKGL initiative (c.1227dup)	-	-	Germline	-	-	-	-	-	Aafke Engwerda
+/.	6	-	pathogenic (dominant)	g.149719195C>T	g.149398059C>T	-	-	TAB2_000024	linked to variant 610084 VKGL initiative	-	-	De novo	-	-	-	-	-	Aafke Engwerda

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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.

14 entries on 1 page. Showing entries 1 - 14.

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Individual ID	ID_report	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00372043	PatA1	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Netherlands	-	-	-	-	-	CHTD	small for gestational age unknown (?HP:0001518), Short stature (HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), Hypertelorism (HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), no Ptosis (-HP:0000508), Ears abnormal position (HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), Cafe-au-lait spot (HP:0000957), Abnormal heart morphology (HP:0001627), Bicuspid aortic valve (HP:0001647), Abnormal mitral valve morphology (HP:0001633), Abnormal tricuspid valve morphology (HP:0001702), Thoracic aortic aneurysm (HP:0012727), Cardiomyopathy (HP:0001638), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), no Pectus excavatum (-HP:0000767), Short palm (HP:0004279), Tapered finger (HP:0001182), Sandal gap (HP:0001852), Hypotonia unknown (?HP:0001252), Hearing impairment unknown (?HP:0000365), no Neurodevelopmental delay (-HP:0012758)	TAB2	TAB2	1	1	Aafke Engwerda
00372044	PatB1	2-generation family, 1 affected, unaffected parents	M	-	Netherlands	-	-	-	-	-	CHTD	small for gestational age unknown (?HP:0001518), Short stature (HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), no Ears abnormal position (-HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), Thick lower lip vermilion (HP:0000179), Long philtrum (HP:0000343), Abnormal heart morphology (HP:0001627), Atrial septal defect (HP:0001631), Ventricular septal defect (HP:0001629), Cardiomyopathy unknown (?HP:0001638), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), Cryptorchidism (HP:0000028), Feeding difficulties (HP:0011968), Hypermetropia (HP:0000540), Hearing impairment unknown (?HP:0000365), Neurodevelopmental delay (HP:0012758)	TAB2	TAB2	1	1	Aafke Engwerda
00372045	PatC1	2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents	F	-	Netherlands	-	-	-	-	-	CHTD	broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), Downslanted palpebral fissures (HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), Abnormal heart morphology (HP:0001627), Mitral regurgitation (HP:0001653), Mitral stenosis (HP:0001718), Hip dysplasia (HP:0001385), no Neurodevelopmental delay (-HP:0012758)	TAB2	TAB2	1	3	Aafke Engwerda
00372046	PatC2	son	M	-	Netherlands	-	-	-	-	-	CHTD	not small for gestational age (-HP:0001518), Short stature (HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), Hypertelorism (HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), High palate (HP:0000218), Wide mouth (HP:0000154), Abnormal heart morphology (HP:0001627), Abnormal mitral valve morphology (HP:0001633), Mitral regurgitation (HP:0001653), Mitral valve prolapse (HP:0001634), Thoracic aortic aneurysm (HP:0012727), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), Hip dysplasia (HP:0001385), Cryptorchidism (HP:0000028), Neurodevelopmental delay (HP:0012758)	TAB2	TAB2	1	1	Aafke Engwerda
00372047	PatC3	daughter	F	-	Netherlands	-	-	-	-	-	CHTD	not small for gestational age (-HP:0001518), Short stature (HP:0004322), Disproportionate short-limb short stature (HP:0008873), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), Hypertelorism (HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), Short neck (HP:0000470), Broad neck (HP:0000475), High palate (HP:0000218), Abnormal heart morphology (HP:0001627), Bicuspid aortic valve (HP:0001647), Abnormal mitral valve morphology (HP:0001633), Mitral regurgitation (HP:0001653), Mitral valve prolapse (HP:0001634), Thoracic aortic aneurysm (HP:0012727), no Joint hypermobility (-HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), Hypotonia (HP:0001252), no Neurodevelopmental delay (-HP:0012758)	TAB2	TAB2	1	1	Aafke Engwerda
00372048	PatD1	family, 6 affected (4F, 2M), unaffected heterozygous carrier parents	F	-	Netherlands	-	46y	-	-	-	CHTD	46y-deceased (cause unknown); small for gestational age unknown (?HP:0001518), Short stature (HP:0004322), Broad forehead (HP:0000337), Hypertelorism unknown (?HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), Ears abnormal position unknown (?HP:0000357), Short neck unknown (?HP:0000470), Broad neck unknown (?HP:0000475), Abnormal heart morphology (HP:0001627), Aortic regurgitation (HP:0001659), Bicuspid aortic valve (HP:0001647), Pulmonic stenosis (HP:0001642), Arrhythmia (HP:0011675), Atrial flutter (HP:0004749), Hearing impairment (HP:0000365), Neurodevelopmental delay unknown (?HP:0012758)	TAB2	TAB2	1	6	Aafke Engwerda
00372049	PatD2	-	M	-	Netherlands	-	-	-	-	-	CHTD	small for gestational age unknown (?HP:0001518), no Short stature (-HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), Downslanted palpebral fissures (HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), High palate (HP:0000218), Micrognathia (HP:0000347), no Abnormal heart morphology (-HP:0001627), no Cardiomyopathy (-HP:0001638), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Hearing impairment (HP:0000365), no Neurodevelopmental delay (-HP:0012758)	TAB2	TAB2	1	1	Aafke Engwerda
00372050	PatD3	-	F	-	Netherlands	-	-	-	-	-	CHTD	small for gestational age (HP:0001518), Short stature (HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), Downslanted palpebral fissures (HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), Short neck unknown (?HP:0000470), Broad neck unknown (?HP:0000475), High palate (HP:0000218), Micrognathia (HP:0000347), Abnormal heart morphology (HP:0001627), Atrial septal defect (HP:0001631), Mitral valve prolapse (HP:0001634), Tricuspid valve prolapse (HP:0001704), Cardiomyopathy (HP:0001638), Arrhythmia (HP:0011675), Supraventricular tachycardia (HP:0004755), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Swan neck-like deformities of the fingers (HP:0006150), Hearing impairment (HP:0000365), no Neurodevelopmental delay (-HP:0012758)	TAB2	TAB2	1	1	Aafke Engwerda
00372051	PatD4	-	F	-	Netherlands	-	-	-	-	-	CHTD	small for gestational age (HP:0001518), Disproportionate short-limb short stature (HP:0008873), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), Upslanted palpebral fissure (HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), Short neck unknown (?HP:0000470), Broad neck unknown (?HP:0000475), High palate (HP:0000218), Micrognathia (HP:0000347), Abnormal heart morphology (HP:0001627), Pulmonic stenosis (HP:0001642), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), Umbilical hernia (HP:0001537), no Neurodevelopmental delay (-HP:0012758)	TAB2	TAB2	1	1	Aafke Engwerda
00372052	PatD5	-	F	-	Netherlands	-	-	-	-	-	CHTD	small for gestational age (HP:0001518), Short stature (HP:0004322), Disproportionate short-limb short stature (HP:0008873), Broad forehead (HP:0000337), Hypertelorism (HP:0000316), Upslanted palpebral fissure (HP:0000582), no Downslanted palpebral fissures (-HP:0000494), no Ptosis (-HP:0000508), no Ears abnormal position (-HP:0000357), Short neck unknown (?HP:0000470), Broad neck unknown (?HP:0000475), Micrognathia (HP:0000347), Abnormal heart morphology (HP:0001627), Aortic regurgitation (HP:0001659), Mitral regurgitation (HP:0001653), Mitral valve prolapse (HP:0001634), Cardiomyopathy (HP:0001638), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), no Hypotonia (-HP:0001252), no Neurodevelopmental delay (-HP:0012758)	TAB2	TAB2	1	1	Aafke Engwerda
00372053	PatD6	-	M	-	Netherlands	-	-	-	-	-	CHTD	small for gestational age (HP:0001518), Short stature (HP:0004322), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), Downslanted palpebral fissures (HP:0000494), Ptosis (HP:0000508), no Ears abnormal position (-HP:0000357), Short neck unknown (?HP:0000470), Broad neck unknown (?HP:0000475), Abnormal heart morphology (HP:0001627), Aortic regurgitation (HP:0001659), Mitral regurgitation (HP:0001653), Tricuspid regurgitation (HP:0005180), Tricuspid valve prolapse (HP:0001704), Cardiomyopathy (HP:0001638), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), Umbilical hernia (HP:0001537), Inguinal hernia (HP:0000023), Neurodevelopmental delay (HP:0012758)	TAB2	TAB2	1	1	Aafke Engwerda
00372054	PatE1	2-generation family, affected mother/son, unaffected heterozygous carrier parents	F	-	Netherlands	-	-	-	-	-	CHTD	not small for gestational age (-HP:0001518), Short stature (HP:0004322), no Microcephaly (-HP:0000252), no Broad forehead (-HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), Downslanted palpebral fissures (HP:0000494), Ptosis (HP:0000508), no Ears abnormal position (-HP:0000357), Short neck (HP:0000470), Broad neck (HP:0000475), Micrognathia (HP:0000347), Abnormal heart morphology (HP:0001627), Aortic regurgitation (HP:0001659), Abnormal mitral valve morphology (HP:0001633), Mitral regurgitation (HP:0001653), Mitral valve prolapse (HP:0001634), Joint hypermobility (HP:0001382), Brachydactyly (HP:0001156), Lunate-triquetral fusion (HP:0004251), Abnormality of the os naviculare pedis (HP:0100339), Short toe (HP:0001831), Broad hallux (HP:0010055), Hypotonia (HP:0001252), Hearing impairment (HP:0000365), no Neurodevelopmental delay (-HP:0012758)	TAB2	TAB2	1	2	Aafke Engwerda
00372055	PatE2	son	M	-	Netherlands	-	-	-	-	-	CHTD	not small for gestational age (-HP:0001518), Short stature (HP:0004322), Disproportionate short-limb short stature (HP:0008873), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), Short neck (HP:0000470), Broad neck (HP:0000475), Abnormal heart morphology (HP:0001627), Abnormal mitral valve morphology (HP:0001633), Mitral valve prolapse (HP:0001634), Tricuspid regurgitation (HP:0005180), Tricuspid valve prolapse (HP:0001704), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Broad foot (HP:0001769), Hypotonia unknown (?HP:0001252), Hearing impairment (HP:0000365), no Neurodevelopmental delay (-HP:0012758)	TAB2	TAB2	1	1	Aafke Engwerda
00372056	PatF1	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Netherlands	-	-	-	-	-	CHTD	not small for gestational age (-HP:0001518), no Short stature (-HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), no Ptosis (-HP:0000508), no Ears abnormal position (-HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), Synophrys (HP:0000664), Abnormal heart morphology unknown (?HP:0001627), Cardiomyopathy unknown (?HP:0001638), Arrhythmia unknown (?HP:0011675), Joint hypermobility (HP:0001382), Pes planus unknown (?HP:0001763), Pectus excavatum unknown (?HP:0000767), Feeding difficulties (HP:0011968), no Hypotonia (-HP:0001252), no Hearing impairment (-HP:0000365), Neurodevelopmental delay (HP:0012758)	TAB2	TAB2	1	1	Aafke Engwerda

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Global Variome shared LOVD

BBS9 (Bardet-Biedl syndrome 9)