All individuals with variants in gene CYP24A1

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.

36 entries on 1 page. Showing entries 1 - 36.

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
00065304	23470222 F1_pt.1	PubMed: Dganit Dinour 2013, Journal: Dganit Dinour 2013	-	M	yes	Tunisia	Jewish	>48y	-	-	-	CAON	Calcium oxalate nephrolithiasis (HP:0008672), Hypercalcemia (HP:0003072), Elevated serum creatinine (HP:0003259), Hypoparathyroidism (HP:0000829), Increased serum 1,25-dihydroxyvitamin D3 (HP:0003152), decreased serum 24,25-dihydroxyvitamin D3 (HP:0100511), Hypercalciuria (HP:0002150), Hyperphosphaturia (HP:0003109), no abnormality of urinary uric acid concentration (-HP:0012610), Proteinuria (HP:0000093)	1	1	Pieter Klap
00065305	23470222 F2_pt.1	PubMed: Dganit Dinour 2013, Journal: Dganit Dinour 2013	-	M	no	Egypt	Europe-E;Jewish;Egypt;Jewish	>31y	-	-	-	CAON	Calcium oxalate nephrolithiasis (HP:0008672), mild Hypercalcemia (HP:0003072), no elevated serum creatinine (-HP:0003259), Hypoparathyroidism (HP:0000829), Increased serum 1,25-dihydroxyvitamin D3 (HP:0003152), Hypercalciuria (HP:0002150), no hyperphosphaturia (-HP:0003109), Hyperuricosuria (HP:0003149), Proteinuria (HP:0000093),	2	1	Pieter Klap
00065306	23470222 F2_pt.2	PubMed: Dinour 2013, Journal: Dinour 2013	-	M	no	-	Europe-E;Jewish;Egypt;Jewish	>13y	-	-	-	CAON	diagnosis nephrolithiasis, calcium oxalate; symptoms started after treatment for mild osteoporosis with calcium and vitamin D supplements; calcium oxalate nephrolithiasis (HP:0008672), mild hypercalcemia (HP:0003072), no elevated serum creatinine (-HP:0003259), hypoparathyroidism (HP:0000829), increased serum 1,25-dihydroxyvitamin D3 (HP:0003152), hypercalciuria (HP:0002150), no abnormality of urinary uric acid concentration (-HP:0012610), proteinuria (HP:0000093)	2	1	Pieter Klap
00072148	23293122 F1_I-2.2	PubMed: Nesterova 2013, Journal: Nesterova 2013	-	M	-	-	-	>09y	-	-	-	CAON	Hypercalcemia (HP:0003072), Increased serum 1,25-dihydroxyvitamin D3 (HP:0003152), decreased serum 24,25-dihydroxyvitamin D3 (HP:0100511), Hypercalciuria (HP:0002150), no hyperuricosuria (-HP:0003149), no hyperoxaluria (-HP:0003159), extensive medullary nephrocalcinosis (HP:0012408), Hypoparathyroidism (HP:0000829)	2	1	Pieter Klap
00072149	23293122 F2_II-2.2	PubMed: Nesterova 2013, Journal: Nesterova 2013	-	M	-	-	-	>38y	-	-	-	CAON	Hypercalcemia (HP:0003072), Increased serum 1,25-dihydroxyvitamin D3 (HP:0003152), decreased serum 24,25-dihydroxyvitamin D3 (HP:0100511), Hypercalciuria (HP:0002150), nephrocalcinosis (HP:0012408), no hyperuricosuria (-HP:0003149), no hyperoxaluria (-HP:0003159), Hypoparathyroidism (HP:0000829), Hyperphosphaturia (HP:0003109)	2	1	Pieter Klap
00072154	25446019 patient 1	PubMed: Figueres 2015, Journal: Figueres 2015	-	F	no	-	European	>50y	-	-	-	CAON	dehydration (HP:0001944), medullary nephrocalcinosis (HP:0012408), Hypercalcemia (HP:0003072), Hypercalciuria (HP:0002150), Chondrocalcinosis (HP:0000934), Hypoparathyroidism (HP:0000829),	2	1	Pieter Klap
00073757	26251716 pt.1	PubMed: Sayers 2015, Journal: Sayers 2015	-	M	-	England	-	>45y	-	-	-	?	Abdominal colic (HP:0011848), Nephrolithiasis (HP:0000787), Hypercalciuria (HP:0002150), Hypercalcemia (HP:0003072), Increased serum 25-dihydroxyvitamin D3 (HP:0003117), Increased serum 1,25-dihydroxyvitamin D3 (HP:0003152)	1	1	Pieter Klap
00073760	26304832 II:3	PubMed: Jobst-Schwan 2015, Journal: Jobst-Schwan 2015	-	M	yes	-	Eastern Mediterranean	>24y	-	-	-	CAON	Hypercalcemia (HP:0003072), Renal insufficiency (HP:0000083), Hypoparathyroidism (HP:0000829), Hypophosphaturia (HP:0012365),	1	1	Pieter Klap
00073761	26304832 II:2	PubMed: Jobst-Schwan 2015, Journal: Jobst-Schwan 2015	-	M	yes	-	Eastern Mediterranean	>28y	-	-	-	?	Hypoparathyroidism (HP:0000829), Hypocitraturia (HP:0012405),	1	1	Pieter Klap
00073762	25194629 pt.1	PubMed: Dinour 2015, Journal: Dinour 2015	-	M	no	Israel	Jewish-Ashkenazi;Tunesia;Jewish	>00y05m	-	-	vitamin D supplements (400 IU/day), serum calcium level normalized when vitamin D supplementation was discontinued and after treatment with Calcitonin.	HCINF1	vomiting after meals (HP:0002013), Weight loss (HP:0001824), Hypercalcemia (HP:0003072), Hypercalciuria (HP:0002150), Medullary nephrocalcinosis (HP:0012408), Hypoparathyroidism (HP:0000829),	2	1	Pieter Klap
00073763	25194629 pt.2	PubMed: Dinour 2015, Journal: Dinour 2015	-	F	-	Georgia;(Israel);Tunisia	-	>00y09m	-	-	vitamin D supplements (400 IU/day), Serum calcium level normalized when vitamin D supplementation was discontinued	HCINF1	Fever (HP:0001945), Cough (HP:0012735), Weight loss (HP:0001824), Hypercalcemia (HP:0003072), Hypercalciuria (HP:0002150), Hypoparathyroidism (HP:0000829), Medullary nephrocalcinosis (HP:0012408)	2	1	Pieter Klap
00073764	25194629 pt.3	PubMed: Dinour 2015, Journal: Dinour 2015	-	F	no	(Israel);Morocco	Jewish	>05y	-	-	vitamin D supplements (400 IU/day), Serum calcium level normalized when vitamin D supplementation was discontinued	HCINF1	Failure to thrive (HP:0001508), Polyuria (HP:0000103), Polydipsia (HP:0001959), Hypercalcemia (HP:0003072), Hypercalciuria (HP:0002150), Hypoparathyroidism (HP:0000829), Medullary nephrocalcinosis (HP:0012408)	1	1	Pieter Klap
00073765	25194629 pt.4	PubMed: Dinour 2015, Journal: Dinour 2015	-	F	-	Morocco	-	>35y	-	-	vitamin D supplements (750 IU/day)	?	Caesarian section (HP:0011410), Muscle weakness (HP:0001324), Confusion (HP:0001289), Hypercalcemia (HP:0003072), Hypercalciuria (HP:0002150), Hypoparathyroidism (HP:0000829), Medullary nephrocalcinosis (HP:0012408), Increased serum 1,25-dihydroxyvitamin D3 (HP:0003152)	1	1	Pieter Klap
00074394	24175086 pt.1	PubMed: Meusburger 2013, Journal: Meusburger 2013	-	M	-	(Austria)	-	>29y	-	-	-	HCINF1	Elevated serum creatinine (HP:0003259), mild hypertension (HP:0000822), Microalbuminuria (HP:0012594), medullary nephrocalcinosis (HP:0012408), mild nephrogenic diabetes insipidus (HP:0009806), isosthenuria,, Failure to thrive (HP:0001508), Hypercalcemia (HP:0003072), Hypercalciuria (HP:0002150), Nephrolithiasis (HP:0000787), Increased serum calcifediol (HP:0100511), Hypoparathyroidism (HP:0000829)	4	1	Pieter Klap
00074395	23001465 pt.1	PubMed: Fencl 2013, Journal: Fencl 2013	-	M	-	(Czech Republic)	-	>00y14m	-	-	-	HCINF1	Vomiting (HP:0002013), Weight loss (HP:0001824), Dehydration (HP:0001944), Muscular hypotonia (HP:0001252), Lethargy (HP:0001254), Hypercalcemia (HP:0003072), Hypercalciuria (HP:0002150), Hypophosphatemia (HP:0002148), mild hypokalemia (HP:0002900), Hypoparathyroidism (HP:0000829), Increased serum calcifediol (HP:0100511), Nephrocalcinosis (HP:0000121),	1	1	Pieter Klap
00074401	22112808 pt.1	PubMed: Dauber 2012, Journal: Dauber 2012	-	M	yes	(United States)	European	>00y39m	-	-	-	HCINF1	Failure to thrive (HP:0001508), Polyuria (HP:0000103), Hypercalcemia (HP:0003072), Hypercalciuria (HP:0002150), Nephrocalcinosis (HP:0000121),	1	1	Pieter Klap
00074414	26501157 pt1	PubMed: Marks 2016, Journal: Marks 2016	-	M	-	(United States)	Amish	>00y07m	-	-	-	HCINF1	Muscular hypotonia (HP:0001252), Constipation (HP:0002019), Failure to thrive (HP:0001508), Global developmental delay (HP:0001263), Poor suck (HP:0002033), Hypercalcemia (HP:0003072), Low alkaline phosphatase (HP:0003282), Hypoparathyroidism (HP:0000829), Hypercalciuria (HP:0002150),	1	1	Pieter Klap
00078708	25446019 patient 2	PubMed: Figueres 2015, Journal: Figueres 2015	-	-	no	(France)	European	-	-	-	-	HCINF1	dehydration (HP:0001944), medullary nephrocalcinosis (HP:0012408), Hypercalcemia (HP:0003072), Hypercalciuria (HP:0002150), Nephrolithiasis (HP:0000787), no chondrocalcinosis (-HP:0000934), Hypoparathyroidism (HP:0000829)	2	1	Pieter Klap
00078709	25446019 patient 3	PubMed: Figueres 2015, Journal: Figueres 2015	-	-	no	(France)	African	>01y	-	-	-	HCINF1	no dehydration (-HP:0001944), medullary nephrocalcinosis (HP:0012408), Hypercalcemia (HP:0003072), Hypercalciuria (HP:0002150), No nephrolithiasis (-HP:0000787), no chondrocalcinosis (-HP:0000934), Hypoparathyroidism (HP:0000829)	2	1	Pieter Klap
00078710	25446019 patient 4	PubMed: Figueres 2015, Journal: Figueres 2015	-	-	no	(France)	European	>07y	-	-	-	HCINF1	dehydration (HP:0001944), medullary nephrocalcinosis (HP:0012408), Hypercalcemia (HP:0003072), Hypercalciuria (HP:0002150), No nephrolithiasis (-HP:0000787), no chondrocalcinosis (-HP:0000934), Hypoparathyroidism (HP:0000829)	2	1	Pieter Klap
00078711	25446019 patient 5	PubMed: Figueres 2015, Journal: Figueres 2015	-	-	yes	(France)	European	>04y	-	-	-	HCINF1	dehydration (HP:0001944), medullary nephrocalcinosis (HP:0012408), Hypercalcemia (HP:0003072), Hypercalciuria (HP:0002150), No nephrolithiasis (-HP:0000787), no chondrocalcinosis (-HP:0000934), Hypoparathyroidism (HP:0000829)	1	1	Pieter Klap
00078712	25446019 patient 6	PubMed: Figueres 2015, Journal: Figueres 2015	-	-	no	(France)	European	>02y	-	-	-	HCINF1	no dehydration (-HP:0001944), medullary nephrocalcinosis (HP:0012408), Hypercalcemia (HP:0003072), Hypercalciuria (HP:0002150), No nephrolithiasis (-HP:0000787), no chondrocalcinosis (-HP:0000934), Hypoparathyroidism (HP:0000829)	2	1	Pieter Klap
00078713	25446019 patient 7	PubMed: Figueres 2015, Journal: Figueres 2015	-	-	no	(France)	European	>09y	-	-	-	HCINF1	dehydration (HP:0001944), medullary nephrocalcinosis (HP:0012408), Hypercalcemia (HP:0003072), Hypercalciuria (HP:0002150), No nephrolithiasis (-HP:0000787), no chondrocalcinosis (-HP:0000934), Hypoparathyroidism (HP:0000829)	2	1	Pieter Klap
00078720	27394135 F1:1.1	PubMed: Gigante 2016, Journal: Gigante 2016	-	F	-	Italy	-	>09y	-	-	-	HCINF1	Nephrocalcinosis (HP:0000121), Hypercalcemia (HP:0003072), Hypoparathyroidism (HP:0000829), Increased serum 1,25-dihydroxyvitamin D3 (HP:0003152),	2	1	Pieter Klap
00078721	27394135 F1:1.2	PubMed: Gigante 2016, Journal: Gigante 2016	-	F	-	Italy	-	>06y	-	-	-	HCINF1	Nephrocalcinosis (HP:0000121), Hypercalcemia (HP:0003072), Hypoparathyroidism (HP:0000829), Increased serum 1,25-dihydroxyvitamin D3 (HP:0003152)	2	1	Pieter Klap
00078722	27394135 F2.2	PubMed: Gigante 2016, Journal: Gigante 2016	-	F	-	Italy	-	>05y	-	-	-	HCINF1	Nephrocalcinosis (HP:0000121), Hypercalcemia (HP:0003072), Hypoparathyroidism (HP:0000829), Increased serum 1,25-dihydroxyvitamin D3 (HP:0003152)	2	1	Pieter Klap
00078723	27394135 F3.3	PubMed: Gigante 2016, Journal: Gigante 2016	-	M	-	Italy	-	>23y	-	-	-	HCINF1	Nephrocalcinosis (HP:0000121), Hypercalcemia (HP:0003072), Hypoparathyroidism (HP:0000829), Increased serum 1,25-dihydroxyvitamin D3 (HP:0003152)	2	1	Pieter Klap
00078724	27394135 F4.4	PubMed: Gigante 2016, Journal: Gigante 2016	-	M	-	Italy	-	>08y	-	-	-	HCINF1	Nephrocalcinosis (HP:0000121), Hypercalcemia (HP:0003072), Hypoparathyroidism (HP:0000829), Increased serum 1,25-dihydroxyvitamin D3 (HP:0003152)	1	1	Pieter Klap
00292950	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00292951	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00292952	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	98	Mohammed Faruq
00292953	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00292954	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	98	Mohammed Faruq
00304863	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00304864	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00309880	-	-	-	F	-	France	-	-	-	-	-	HCINF1	-	2	1	Jérémy Danguy

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Global Variome shared LOVD

CYP24A1 (cytochrome P450, family 24, subfamily A, p...)