All individuals with variants in gene PHYH

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.

Reference: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.

Ethnic origin: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).

Remarks: Remarks about the individual.

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.

25 entries on 1 page. Showing entries 1 - 25.

Legend

How to query

Individual ID	Reference	Ethnic origin	Remarks	Disease	Phenotype details	Variants	Panel size	Owner
00001855	Jansen GA1, Waterham HR, Wanders RJ.(2004)	-	-	HMSN	-	1	1	Y Yang
00001856	Jansen GA1, Waterham HR, Wanders RJ.(2004)	-	-	HMSN	-	1	1	Y Yang
00001857	Jansen GA1, Waterham HR, Wanders RJ.(2004)	-	-	HMSN	-	1	1	Y Yang
00001858	Jansen GA1, Waterham HR, Wanders RJ.(2004)	-	-	HMSN	-	1	1	Y Yang
00001859	Jansen GA1, Waterham HR, Wanders RJ.(2004)	-	-	HMSN	-	1	1	Y Yang
00001860	Jansen GA1, Waterham HR, Wanders RJ.(2004)	-	-	HMSN	-	1	1	Y Yang
00001861	Jansen GA1, Waterham HR, Wanders RJ.(2004)	-	-	HMSN	-	1	1	Y Yang
00001862	Jansen GA1, Waterham HR, Wanders RJ.(2004)	-	-	HMSN	-	1	1	Y Yang
00001863	Jansen GA1, Waterham HR, Wanders RJ.(2004)	-	-	HMSN	-	1	1	Y Yang
00001864	Jansen GA1, Waterham HR, Wanders RJ.(2004)	-	-	HMSN	-	1	1	Y Yang
00001865	Jansen GA1, Waterham HR, Wanders RJ.(2004)	-	-	HMSN	-	1	1	Y Yang
00001866	Jansen GA1, Waterham HR, Wanders RJ.(2004)	-	-	HMSN	-	1	1	Y Yang
00001867	Jansen GA1, Waterham HR, Wanders RJ.(2004)	-	-	HMSN	-	1	1	Y Yang
00001868	Jansen GA1, Ofman R, Ferdinandusse S, Ijlst L, Muijsers AO, Skjeldal OH, Stokke O, Jakobs C, Besley GT, Wraith JE, Wanders RJ.(1997)	-	-	HMSN	-	1	1	Y Yang
00001869	Jansen GA1, Waterham HR, Wanders RJ.(2004)	-	-	HMSN	-	1	1	Y Yang
00001870	Jansen GA1, Waterham HR, Wanders RJ.(2004)	-	-	HMSN	-	1	1	Y Yang
00001871	Jansen GA1, Waterham HR, Wanders RJ.(2004)	-	-	HMSN	-	1	1	Y Yang
00001872	Mihalik SJ1, Morrell JC, Kim D, Sacksteder KA, Watkins PA, Gould SJ.(1997)	-	-	HMSN	-	1	1	Y Yang
00001873	Mihalik SJ1, Morrell JC, Kim D, Sacksteder KA, Watkins PA, Gould SJ.(1997)	-	-	HMSN	-	1	1	Y Yang
00001874	Skjeldal OH, Stokke O, Refsum S, Norseth J, Petit H.(1987)	-	-	HMSN	-	1	1	Y Yang
00001875	Jansen GA1, Hogenhout EM, Ferdinandusse S, Waterham HR, Ofman R, Jakobs C, Skjeldal OH, Wanders RJ.(2000)	-	-	HMSN	-	1	1	Y Yang
00001876	Jansen GA1, Hogenhout EM, Ferdinandusse S, Waterham HR, Ofman R, Jakobs C, Skjeldal OH, Wanders RJ.(2000)	-	-	HMSN	-	1	1	Y Yang
00001877	Jansen GA1, Hogenhout EM, Ferdinandusse S, Waterham HR, Ofman R, Jakobs C, Skjeldal OH, Wanders RJ.(2000)	-	-	HMSN	-	1	1	Y Yang
00001878	Jansen GA1, Hogenhout EM, Ferdinandusse S, Waterham HR, Ofman R, Jakobs C, Skjeldal OH, Wanders RJ.(2000)	-	-	HMSN	-	1	1	Y Yang
00001879	Jansen GA1, Hogenhout EM, Ferdinandusse S, Waterham HR, Ofman R, Jakobs C, Skjeldal OH, Wanders RJ.(2000)	-	-	HMSN	-	1	1	Y Yang

Legend

How to query

NDDVD - Neurodegenerative Diseases Variation Database

PHYH (phytanoyl-CoA 2-hydroxylase)