Data for reference DOI:10.3389/fmed.2024.1424753

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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.

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%)

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.

30 entries on 1 page. Showing entries 1 - 30.

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How to query

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
+/.	1	-	pathogenic (recessive)	g.197060059G>C	g.197090929G>C	-	-	ASPM_000295	-	-	-	Germline	yes	-	-	-	-	Muhammad Umair
+/.	1	-	pathogenic (recessive)	g.197060059G>C	g.197090929G>C	-	-	ASPM_000295	-	-	-	Germline	yes	-	-	-	-	Muhammad Umair
+/.	1	-	pathogenic (recessive)	g.197060059G>C	g.197090929G>C	-	-	ASPM_000295	-	-	-	Germline	yes	-	-	-	-	Muhammad Umair
+/.	1	-	pathogenic (recessive)	g.197060059G>C	g.197090929G>C	-	-	ASPM_000295	-	-	-	Germline	yes	-	-	-	-	Muhammad Umair
+/.	1	-	pathogenic (recessive)	g.197071387G>A	g.197102257G>A	-	-	ASPM_000334	-	-	-	Germline	yes	-	-	-	-	Muhammad Umair
+/.	1	-	pathogenic (recessive)	g.197071387G>A	g.197102257G>A	-	-	ASPM_000334	-	-	-	Germline	yes	-	-	-	-	Muhammad Umair
+/.	1	-	pathogenic (recessive)	g.197071387G>A	g.197102257G>A	-	-	ASPM_000334	-	-	-	Germline	yes	-	-	-	-	Muhammad Umair
+/.	1	-	pathogenic (recessive)	g.197071387G>A	g.197102257G>A	-	-	ASPM_000334	-	-	-	Germline	yes	-	-	-	-	Muhammad Umair
+/.	1	-	pathogenic (recessive)	g.197071387G>A	g.197102257G>A	-	-	ASPM_000334	-	-	-	Germline	yes	-	-	-	-	Muhammad Umair
+/.	1	-	pathogenic (recessive)	g.197087006C>T	g.197117876C>T	-	-	ASPM_000277	-	-	-	Germline	yes	-	-	-	-	Muhammad Umair
+/.	1	-	pathogenic (recessive)	g.197087006C>T	g.197117876C>T	-	-	ASPM_000277	-	-	-	Germline	yes	-	-	-	-	Muhammad Umair
+/.	1	-	pathogenic (recessive)	g.197087006C>T	g.197117876C>T	-	-	ASPM_000277	-	-	-	Germline	yes	-	-	-	-	Muhammad Umair
+/.	1	-	pathogenic (recessive)	g.197087006C>T	g.197117876C>T	-	-	ASPM_000277	-	-	-	Germline	yes	-	-	-	-	Muhammad Umair
+/.	1	-	pathogenic (recessive)	g.197087006C>T	g.197117876C>T	-	-	ASPM_000277	-	-	-	Germline	yes	-	-	-	-	Muhammad Umair
+/.	1	-	pathogenic (recessive)	g.197087006C>T	g.197117876C>T	-	-	ASPM_000277	-	-	-	Germline	yes	-	-	-	-	Muhammad Umair
+/.	1	-	pathogenic (recessive)	g.197087006C>T	g.197117876C>T	-	-	ASPM_000277	-	-	-	Germline	yes	-	-	-	-	Muhammad Umair
+/.	2	-	pathogenic (recessive)	g.172582224G>A	g.171725714G>A	-	-	DYNC1I2_000001	-	-	-	Germline	yes	-	-	-	-	Muhammad Umair
?/.	8	-	VUS	g.38117568G>T	g.38260050G>T	-	-	DDHD2_000051	-	-	-	Germline	yes	-	-	-	-	Muhammad Umair
+/.	9	-	pathogenic (recessive)	g.131709580C>T	g.128947301C>T	-	-	DOLK_000024	-	-	-	Germline	yes	-	-	-	-	Muhammad Umair
+/.	13	-	pathogenic (recessive)	g.77581691del	g.77007556del	884delT	-	FBXL3_000004	-	-	-	Germline	yes	-	-	-	-	Muhammad Umair
+/.	15	-	pathogenic (recessive)	g.34529690dup	g.34237489dup	-	-	SLC12A6_000105	-	-	-	Germline	yes	-	-	-	-	Muhammad Umair
+/.	15	-	pathogenic (recessive)	g.77907380C>T	g.77615038C>T	-	-	LINGO1_000003	-	-	-	Germline	yes	-	-	-	-	Muhammad Umair
?/.	16	-	VUS	g.8875223T>G	g.8781366T>G	-	-	ABAT_000021	-	-	-	Germline	yes	-	-	-	-	Muhammad Umair
+?/.	16	-	likely pathogenic (recessive)	g.31121089dup	g.31109768dup	360dupC	-	BCKDK_000009	-	-	-	Germline	yes	-	-	-	-	Muhammad Umair
+/.	16	-	pathogenic (recessive)	g.46943834C>T	g.46909922C>T	-	-	GPT2_000009	-	-	-	Germline	yes	-	-	-	-	Muhammad Umair
+/.	16	-	pathogenic (recessive)	g.57693446C>T	g.57659534C>T	1423C>T (Arg476*)	-	GPR56_000070	-	-	-	Germline	yes	-	-	-	-	Muhammad Umair
+/.	17	-	pathogenic (recessive)	g.40695718G>A	g.42543700G>A	-	-	NAGLU_000035	-	-	-	Germline	yes	-	-	-	-	Muhammad Umair
?/.	19	-	VUS	g.45860940C>T	g.45357682C>T	-	-	ERCC2_000136	-	-	-	Germline	yes	-	-	-	-	Muhammad Umair
?/.	22	-	VUS	g.?	-	NM_001372044.2:c.1305-3_1,305-2delTT p.?	-	LARGE_000000	-	-	-	Germline	yes	-	-	-	-	Muhammad Umair
+/.	X	-	pathogenic (recessive)	g.76972632G>A	g.77717155G>A	-	-	ATRX_000224	-	-	-	Germline	yes	-	-	-	-	Muhammad Umair

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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.

30 entries on 1 page. Showing entries 1 - 30.

Legend

How to query

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
00453024	Fam1	5-generation family, 2 affected brothers, heterozygous carrier parents/relatives	M	yes	Pakistan	-	-	-	-	-	NDD	moderate to severe intellectual disability, aggressive behavior, language problems, mild microcephaly, mild facial dysmorphic features	-	ATRX	1	2	Muhammad Umair
00453025	Fam2	4-generation family, 3 affected (F, 2M), heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	NDD	severe intellectual disability, global motor delay, developmental delay, ataxic gait, absent or delayed language, hypotonia, aggressive behaviour	-	GPR56	1	3	Muhammad Umair
00453026	Fam3	2-generation family, 2 affected sisters, heterozygous carrier parents/relatives	F	yes	Pakistan	-	-	-	-	-	NDD	severe phenotype, progressive neurological deterioration, developmental delays (speech delay > motor delay), mild hearing loss, severe intellectual disability, coarse facial features	-	NAGLU	1	2	Muhammad Umair
00453027	Fam4	2-generation family, affected brother/sister, heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	NDD	delayed developmental milestones, delayed psychomotor development, delayed speech	-	DOLK	1	2	Muhammad Umair
00453028	Fam5	4-generation family, 2 affected sisters,, heterozygous carrier parents/relatives	F	yes	Pakistan	-	-	-	-	-	NDD	moderate intellectual disability, development delay, speech problems, aggressive behavior	-	ABAT	1	2	Muhammad Umair
00453029	Fam6	4-generation family, 2 affected brothers, heterozygous carrier parents/relatives	M	yes	Pakistan	-	-	-	-	-	NDD	early onset severe intellectual disability, hypotonia areflexia, mild dysmorphic facial features; dysarthric, strabismus, unable to stand/walk	-	SLC12A6	1	2	Muhammad Umair
00453030	Fam7	2-generation family, 4 affected (F, 3M), heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	NDD	severe intellectual disability, severely delayed developmental milestones, hypotonia, severely impaired speech, aggressive behavior, mild facial dysmorphism	-	SHANK3	1	4	Muhammad Umair
00453031	Fam8	4-generation family, 4 affected (3F, M), heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	NDD	severe phenotype, intellectual disability, microcephaly, behavioral abnormalities	-	BCKDK	1	4	Muhammad Umair
00453032	Fam9	2-generation family, 1 affected, heterozygous carrier parents/relatives	M	yes	Pakistan	-	-	-	-	-	NDD	delayed psychomotor development, delayed intellectual development, early onset rigidity lower limbs due to hypertonia	-	DDHD2	1	1	Muhammad Umair
00453033	Fam10	5-generation family, 4 affected (3F, M), heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	NDD	severe intellectual disability, developmental delay, delayed speech to absent speech, microcephaly (<1 centile), mild hypotonia, mild facial dysmorphism (large nose with beaked tip)	-	ERCC2	1	4	Muhammad Umair
00453034	Fam11	2-generation family, 2 affected brothers, heterozygous carrier parents/relatives	M	yes	Pakistan	-	-	-	-	-	NDD	severe intellectual disability, delayed developmental milestones with motor delay, speech problems, postnatal microcephaly, hypotonia, aggressive behaviour, spastic paraplegia (one patient)	-	GPT2	1	2	Muhammad Umair
00453035	Fam12	2-generation family, 3 affected (2F, M), heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	NDD	mild-moderate intellectual disability, microcephaly, short stature, developmental delay, aggressive behavior, mild facial dysmorphism (upslanting palpebral features, anteverted nares, bulbous nose)	-	DYNC1I2	1	3	Muhammad Umair
00453036	Fam13	5-generation family, 5 affected (3F, 2M), heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	NDD	intellectual disability, short statur, mild facial dysmorphology	-	FBXL3	1	5	Muhammad Umair
00453037	Fam14	4-generation family, affected brother/sister, heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	NDD	severe phenotype, severe intellectual disability, motor delay, speech delay, microcephaly, behavioural abnormalities	-	LINGO1	1	2	Muhammad Umair
00453038	Fam15	4-generation family, 4 affected (2F, 2M), heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	NDD	variable head circumference, cognitive impairment, aggressive behaviours and other related behavioural problems; delayed language development; microcephaly	-	ASPM	1	4	Muhammad Umair
00453039	Fam16	4-generation family, 3 affected (2F, M), heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	NDD	-	-	ASPM	1	3	Muhammad Umair
00453040	Fam17	5-generation family, 4 affected (F, 3M), heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	NDD	-	-	ASPM	1	4	Muhammad Umair
00453041	Fam18	4-generation family, 5 affected (3F, 2M), heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	NDD	-	-	ASPM	1	5	Muhammad Umair
00453042	Fam19	2-generation family, 2 affected brothers, heterozygous carrier parents/relatives	M	yes	Pakistan	-	-	-	-	-	NDD	-	-	ASPM	1	2	Muhammad Umair
00453043	Fam20	4-generation family, affected brother/sister, heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	NDD	-	-	ASPM	1	2	Muhammad Umair
00453044	Fam21	2-generation family, 3 affected (2F, M), heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	NDD	-	-	ASPM	1	2	Muhammad Umair
00453045	Fam22	4-generation family, 3 affected brothers, heterozygous carrier parents/relatives	M	yes	Pakistan	-	-	-	-	-	NDD	-	-	ASPM	1	3	Muhammad Umair
00453046	Fam23	2-generation family, 3 affected (F, 2M), heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	NDD	-	-	ASPM	1	3	Muhammad Umair
00453047	Fam24	4-generation family, 1 affected, heterozygous carrier parents/relatives	M	yes	Pakistan	-	-	-	-	-	NDD	-	-	ASPM	1	1	Muhammad Umair
00453048	Fam25	3-generation family, 4 affected (2F, 2M), heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	NDD	-	-	ASPM	1	4	Muhammad Umair
00453049	Fam26	2-generation family, 3 affected (2F, M), heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	NDD	-	-	ASPM	1	3	Muhammad Umair
00453050	Fam27	3-generation family, 2 affected brothers, heterozygous carrier parents/relatives	M	yes	Pakistan	-	-	-	-	-	NDD	-	-	ASPM	1	2	Muhammad Umair
00453051	Fam28	2-generation family, 4 affected brothers, heterozygous carrier parents/relatives	M	yes	Pakistan	-	-	-	-	-	NDD	-	-	ASPM	1	4	Muhammad Umair
00453052	Fam29	2-generation family, affected sister/brother, heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	NDD	-	-	ASPM	1	2	Muhammad Umair
00453053	Fam30	2-generation family, 2 affected brothers, heterozygous carrier parents/relatives	M	yes	Pakistan	-	-	-	-	-	NDD	-	-	ASPM	1	2	Muhammad Umair

Legend

How to query

Global Variome shared LOVD