All individuals with variants in gene ERCC6

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.

73 entries on 1 page. Showing entries 1 - 73.

Legend

How to query

Individual ID	Reference	Ethnic origin	Remarks	Disease	Phenotype details	Variants	Panel size	Owner
00000890	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000891	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000892	Hashimoto S, Suga T, Kudo E, Ihn H, Uchino M, Tateishi S.(2008)	-	-	CS	-	1	1	Y Yang
00000893	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000894	Cleaver JE1, Thompson LH, Richardson AS, States JC.(1999)	-	-	CS	-	1	1	Y Yang
00000895	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000896	Falik-Zaccai TC1, Laskar M, Kfir N, Nasser W, Slor H, Khayat M.(2008)	-	-	CS	-	1	1	Y Yang
00000897	Colella S1, Nardo T, Mallery D, Borrone C, Ricci R, Ruffa G, Lehmann AR, Stefanini M.(1999)	-	-	CS	-	1	1	Y Yang
00000898	Colella S1, Nardo T, Mallery D, Borrone C, Ricci R, Ruffa G, Lehmann AR, Stefanini M.(1999)	-	-	CS	-	1	1	Y Yang
00000899	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000900	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000901	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000902	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000903	Colella S1, Nardo T, Mallery D, Borrone C, Ricci R, Ruffa G, Lehmann AR, Stefanini M.(1999)	-	-	CS	-	1	1	Y Yang
00000904	Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998)	-	-	CS	-	1	1	Y Yang
00000905	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000906	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000907	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000908	Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998)	-	-	CS	-	1	1	Y Yang
00000909	Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998)	-	-	CS	-	1	1	Y Yang
00000910	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000911	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000912	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000913	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000914	Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998)	-	-	CS	-	1	1	Y Yang
00000915	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000916	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000917	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000918	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000919	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000920	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000921	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000922	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000923	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000924	Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998)	-	-	CS	-	1	1	Y Yang
00000925	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000926	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000927	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000928	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000929	Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998)	-	-	CS	-	1	1	Y Yang
00000930	Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998)	-	-	CS	-	1	1	Y Yang
00000931	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000932	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000933	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000934	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000935	Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998)	-	-	CS	-	1	1	Y Yang
00000936	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000937	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000938	Cleaver JE1, Thompson LH, Richardson AS, States JC.(1999)	-	-	CS	-	1	1	Y Yang
00000939	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000940	Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998)	-	-	CS	-	1	1	Y Yang
00000941	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000942	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000943	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000944	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000945	Cleaver JE1, Thompson LH, Richardson AS, States JC.(1999)	-	-	CS	-	1	1	Y Yang
00000946	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000947	Cleaver JE1, Thompson LH, Richardson AS, States JC.(1999)	-	-	CS	-	1	1	Y Yang
00000948	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000949	Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998)	-	-	CS	-	1	1	Y Yang
00000950	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000951	Meira LB1, Graham JM Jr, Greenberg CR, Busch DB, Doughty AT, Ziffer DW, Coleman DM, Savre-Train I, Friedberg EC.(2000)	-	-	CS	-	1	1	Y Yang
00000952	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000953	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000954	"Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V(2010)	-	-	CS	-	1	1	Y Yang
00000955	Zhang H1, Gao J, Ye J, Gong Z, Gu X.(2011)	-	-	CS	-	1	1	Y Yang
00000956	Xin B1, Wang H.(2013)	-	-	CS	-	1	1	Y Yang
00000957	Xin B1, Wang H.(2013)	-	-	CS	-	1	1	Y Yang
00000983	Luo Y1, Ling Y1, Chen J1, Xu X1, Chen C1, Leng F1, Cheng J1, Chen M2, Lu Z1.(2014)	Chinese	-	CS	-	1	1	Y Yang
00000984	Yu S1, Chen L2, Ye L1, Fei L1, Tang W1, Tian Y1, Geng Q2, Yi X1, Xie J2.(2014)	Chinese	-	CS	-	1	1	Y Yang
00000985	Yu S1, Chen L2, Ye L1, Fei L1, Tang W1, Tian Y1, Geng Q2, Yi X1, Xie J2.(2014)	Chinese	-	CS	-	1	1	Y Yang
00005425	Zhou Z et al. (2016)	Chinese	-	CS	-	1	1	XY Liu
00005426	Zhou Z et al. (2016)	Chinese	-	CS	-	1	1	XY Liu

Legend

How to query

NDDVD - Neurodegenerative Diseases Variation Database

ERCC6 (excision repair cross-complementation group 6)