All individuals with variants in gene TTR

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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.

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.

172 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

Individual ID	Reference	Ethnic origin	Remarks	Disease	Phenotype details	Variants	Panel size	Owner
00001198	Jacobson DR1, Alves IL, Saraiva MJ, Thibodeau SN, Buxbaum JN.(1995)	-	-	FAN	-	1	1	Y Yang
00001199	Uemichi T1, Murrell JR, Zeldenrust S, Benson MD.(1992)	-	-	FAN	-	1	1	Y Yang
00001200	Brett M1, Persey MR, Reilly MM, Revesz T, Booth DR, Booth SE, Hawkins PN, Pepys MB, Morgan-Hughes JA.(1999)	-	-	FAN	-	1	1	Y Yang
00001201	Booth DR1, Tan SY, Booth SE, Tennent GA, Hutchinson WL, Hsuan JJ, Totty NF, Truong O, Soutar AK, Hawkins PN, Bruguera M, Caballería J, Solé M, Campistol JM, Pepys MB.(1996)	-	-	FAN	-	1	1	Y Yang
00001202	Vidal R1, Garzuly F, Budka H, Lalowski M, Linke RP, Brittig F, Frangione B, Wisniewski T.(1996)	-	-	FAN	-	1	1	Y Yang
00001203	Chung CM1, Connors LH, Benson MD, Walsh MT.(2001)	-	-	FAN	-	1	1	Y Yang
00001204	Jenne DE1, Denzel K, Bl?tzinger P, Winter P, Obermaier B, Linke RP, Altland K.(1996)	-	-	FAN	-	1	1	Y Yang
00001205	Connors LH1, Théberge R, Skare J, Costello CE, Falk RH, Skinner M.(1999)	-	-	FAN	-	1	1	Y Yang
00001206	Uemichi T1, Gertz MA, Benson MD.(1995)	-	-	FAN	-	1	1	Y Yang
00001207	Sekijima Y1, Hammarstr?m P, Matsumura M, Shimizu Y, Iwata M, Tokuda T, Ikeda S, Kelly JW.(2003)	-	-	FAN	-	1	1	Y Yang
00001208	Yazaki M1, Yamashita T, Kincaid JC, Scott JR, Auger RG, Dyck PJ, Benson MD.(2002)	-	-	FAN	-	1	1	Y Yang
00001209	de Carvalho M1, Moreira P, Evangelista T, Ducla-Soares JL, Bento M, Fernandes R, Saraiva MJ.(2000)	-	-	FAN	-	1	1	Y Yang
00001210	Mita S, Maeda S, Shimada K, Araki S.(1986)	-	-	FAN	-	1	1	Y Yang
00001211	Maeda S, Mita S, Araki S, Shimada K.(1986)	-	-	FAN	-	1	1	Y Yang
00001212	Tawara S, Nakazato M, Kangawa K, Matsuo H, Araki S.(1983)	-	-	FAN	-	1	1	Y Yang
00001213	Dwulet FE, Benson MD.(1984)	-	-	FAN	-	1	1	Y Yang
00001214	Kametani F1, Ikeda S, Yanagisawa N, Ishi T, Hanyu N.(1992)	-	-	FAN	-	1	1	Y Yang
00001215	Reilly MM1, Adams D, Booth DR, Davis MB, Said G, Laubriat-Bianchin M, Pepys MB, Thomas PK, Harding AE.(1995)	-	-	FAN	-	1	1	Y Yang
00001216	Lachmann HJ1, Booth DR, Booth SE, Bybee A, Gilbertson JA, Gillmore JD, Pepys MB, Hawkins PN.(2002)	-	-	FAN	-	1	1	Y Yang
00001217	Altland K1, Benson MD, Costello CE, Ferlini A, Hazenberg BP, Hund E, Kristen AV, Linke RP, Merlini G, Salvi F, Saraiva MJ, Singer R, Skinner M, Winter P.(2007)	-	-	FAN	-	1	1	Y Yang
00001218	Jones LA1, Skare JC, Cohen AS, Harding JA, Milunsky A, Skinner M.(1992)	-	-	FAN	-	1	1	Y Yang
00001219	Utsugisawa K1, Tohgi H, Nagane Y, Yamagata M, Saito K, Mihara M.(1998)	-	-	FAN	-	1	1	Y Yang
00001220	Petersen RB1, Goren H, Cohen M, Richardson SL, Tresser N, Lynn A, Gali M, Estes M, Gambetti P.(1997)	-	-	FAN	-	1	1	Y Yang
00001221	Pica EC1, Pramono ZA, Verma KK, San LP, Chee YW.(2005)	-	-	FAN	-	1	1	Y Yang
00001222	Nakazato M, Kangawa K, Minamino N, Tawara S, Matsuo H, Araki S.(1984)	-	-	FAN	-	1	1	Y Yang
00001223	Ii S1, Minnerath S, Ii K, Dyck PJ, Sommer SS.(1991)	-	-	FAN	-	1	1	Y Yang
00001224	Tachibana N1, Tokuda T, Yoshida K, Taketomi T, Nakazato M, Li YF, Masuda Y, Ikeda S.(1999)	-	-	FAN	-	1	1	Y Yang
00001225	Lim A1, Prokaeva T, McComb ME, Connors LH, Skinner M, Costello CE.(2003)	-	-	FAN	-	1	1	Y Yang
00001226	Patrosso MC1, Salvi F, De Grandis D, Vezzoni P, Jacobson DR, Ferlini A.(1998)	-	-	FAN	-	1	1	Y Yang
00001227	Reilly MM1, Adams D, Booth DR, Davis MB, Said G, Laubriat-Bianchin M, Pepys MB, Thomas PK, Harding AE.(1995)	-	-	FAN	-	1	1	Y Yang
00001228	Jones LA1, Skare JC, Harding JA, Cohen AS, Milunsky A, Skinner M.(1991)	-	-	FAN	-	1	1	Y Yang
00001229	Tachibana N1, Tokuda T, Yoshida K, Taketomi T, Nakazato M, Li YF, Masuda Y, Ikeda S.(1999)	-	-	FAN	-	1	1	Y Yang
00001230	Augustin S1, Llige D, Andreu A, González A, Genescà J.(2007)	-	-	FAN	-	1	1	Y Yang
00001231	Lim A1, Prokaeva T, McComb ME, O'Connor PB, Théberge R, Connors LH, Skinner M, Costello CE.(2002)	-	-	FAN	-	1	1	Y Yang
00001232	Toyooka K1, Fujimura H, Ueno S, Yoshikawa H, Kaido M, Nishimura T, Yorifuji S, Yanagihara T.(1995)	-	-	FAN	-	1	1	Y Yang
00001233	Dupuy O1, Blétry O, Blanc AS, Droz D, Viémont M, Delpech M, Grateau G.(1998)	-	-	FAN	-	1	1	Y Yang
00001234	Klein CJ1, Nakumura M, Jacobson DR, Lacy MQ, Benson MD, Petersen RC.(1998)	-	-	FAN	-	1	1	Y Yang
00001235	-	-	-	FAN	-	1	1	Y Yang
00001236	Janunger T1, Anan I, Holmgren G, L?vheim O, Ohlsson PI, Suhr OB, Tashima K.(2000)	-	-	FAN	-	1	1	Y Yang
00001237	Saraiva MJ1, Almeida Mdo R, Sherman W, Gawinowicz M, Costa P, Costa PP, Goodman DS.(1992)	-	-	FAN	-	1	1	Y Yang
00001238	Murakami T1, Maeda S, Yi S, Ikegawa S, Kawashima E, Onodera S, Shimada K, Araki S.(1992)	-	-	FAN	-	1	1	Y Yang
00001239	Altland K1, Benson MD, Costello CE, Ferlini A, Hazenberg BP, Hund E, Kristen AV, Linke RP, Merlini G, Salvi F, Saraiva MJ, Singer R, Skinner M, Winter P.(2007)	-	-	FAN	-	1	1	Y Yang
00001240	-	-	-	FAN	-	1	1	Y Yang
00001241	Altland K1, Winter P, Sauerborn MK.(1999)	-	-	FAN	-	1	1	Y Yang
00001242	Benson MD 2nd1, Julien J, Liepnieks J, Zeldenrust S, Benson MD.(1993)	-	-	FAN	-	1	1	Y Yang
00001243	Nakamura M1, Yamashita T, Ando Y, Hamidi Asl K, Tashima K, Ohlsson P, Kususe Y, Benson MD.(1999)	-	-	FAN	-	1	1	Y Yang
00001244	-	-	-	FAN	-	1	1	Y Yang
00001245	Ueno S1, Uemichi T, Takahashi N, Soga F, Yorifuji S, Tarui S.(1990)	-	-	FAN	-	1	1	Y Yang
00001246	Nishi H1, Kimura A, Harada H, Hayashi Y, Nakamura M, Sasazuki T.(1992)	-	-	FAN	-	1	1	Y Yang
00001247	-	-	-	FAN	-	1	1	Y Yang
00001248	Pepys MB1, Hawkins PN, Booth DR, Vigushin DM, Tennent GA, Soutar AK, Totty N, Nguyen O, Blake CC, Terry CJ, et al.(1993)	-	-	FAN	-	1	1	Y Yang
00001249	Ellie E1, Camou F, Vital A, Rummens C, Grateau G, Delpech M, Valleix S.(2001)	-	-	FAN	-	1	1	Y Yang
00001250	Douglass C1, Suvarna K, Reilly MM, Hawkins PN, Hadjivassiliou M.(2007)	-	-	FAN	-	1	1	Y Yang
00001251	Kim HS1, Kim SM, Kang SW, Jung SC, Lee KS, Kim TS, Choi YC.(2005)	-	-	FAN	-	1	1	Y Yang
00001252	Nagasaka T1, Togashi S, Watanabe H, Iida H, Nagasaka K, Nakamura Y, Miwa M, Kobayashi F, Shindo K, Shiozawa Z.(2009)	-	-	FAN	-	1	1	Y Yang
00001253	Altland K1, Winter P, Sauerborn MK.(1999)	-	-	FAN	-	1	1	Y Yang
00001254	Jacobson DR1, McFarlin DE, Kane I, Buxbaum JN.(1992)	-	-	FAN	-	1	1	Y Yang
00001255	Yazaki M1, Varga J, Dyck PJ, Benson MD.(2002)	-	-	FAN	-	1	1	Y Yang
00001256	-	-	-	FAN	-	1	1	Y Yang
00001257	Nichols WC1, Liepnieks JJ, McKusick VA, Benson MD.(1989)	-	-	FAN	-	1	1	Y Yang
00001258	Saeki Y1, Ueno S, Yorifuji S, Sugiyama Y, Ide Y, Matsuzawa Y.(1991)	-	-	FAN	-	1	1	Y Yang
00001259	Booth DR1, Tan SY, Hawkins PN, Pepys MB, Frustaci A.(1995)	-	-	FAN	-	1	1	Y Yang
00001260	Wallace MR, Conneally PM, Long GL, Benson MD.(1986)	-	-	FAN	-	1	1	Y Yang
00001261	Shiomi K1, Nakazato M, Matsukura S, Ohnishi A, Hatanaka H, Tsuji S, Murai Y, Kojima M, Kangawa K, Matsuo H.(1993)	-	-	FAN	-	1	1	Y Yang
00001262	Rosenzweig M1, Skinner M, Prokaeva T, Théberge R, Costello C, Drachman BM, Connors LH.(2007)	-	-	FAN	-	1	1	Y Yang
00001263	Ii S1, Minnerath S, Ii K, Dyck PJ, Sommer SS.(1991)	-	-	FAN	-	1	1	Y Yang
00001264	Naderi AS1, Farsian FN, Igarashi P.(2007)	-	-	FAN	-	1	1	Y Yang
00001265	Almeida MR1, Hesse A, Steinmetz A, Maisch B, Altland K, Linke RP, Gawinowicz MA, Saraiva MJ.(1991)	-	-	FAN	-	1	1	Y Yang
00001266	Farlow M1, Murrell J, Ghetti B, Unverzagt F, Zeldenrust S, Benson M.(1994)	-	-	FAN	-	1	1	Y Yang
00001267	Izumoto S1, Younger D, Hays AP, Martone RL, Smith RT, Herbert J.(1992)	-	-	FAN	-	1	1	Y Yang
00001268	Almeida Mdo R1, Lopez-Andreu F, Munar-Qués M, Costa PP, Saraiva MJ.(1993)	-	-	FAN	-	1	1	Y Yang
00001269	Booth DR1, Gillmore JD, Persey MR, Booth SE, Cafferty KD, Tennent GA, Madhoo S, Cochrane SW, Whitehead TC, Pasvol G, Hawkins PN.(1998)	-	-	FAN	-	1	1	Y Yang
00001270	Said G1, Planté-Bordeneuve V.(2009)	-	-	FAN	-	1	1	Y Yang
00001271	Wallace MR1, Dwulet FE, Williams EC, Conneally PM, Benson MD.(1988)	-	-	FAN	-	1	1	Y Yang
00001272	Anesi E, Palladini G, Perfetti V, Arbustini E, Obici L, Merlini G.(2001)	-	-	FAN	-	1	1	Y Yang
00001273	-	-	-	FAN	-	1	1	Y Yang
00001274	-	-	-	FAN	-	1	1	Y Yang
00001275	Refetoff S, Dwulet FE, Benson MD.(1986)	-	-	FAN	-	1	1	Y Yang
00001276	Skinner M1, Harding J, Skare I, Jones LA, Cohen AS, Milunsky A, Skare J.(1992)	-	-	FAN	-	1	1	Y Yang
00001277	Stangou AJ1, Hawkins PN, Heaton ND, Rela M, Monaghan M, Nihoyannopoulos P, O'Grady J, Pepys MB, Williams R.(1998)	-	-	FAN	-	1	1	Y Yang
00001278	Holmgren G1, Hellman U, Anan I, Lundgren HE, Jonasson J, Stafberg C, Fahoum S, Suhr OB.(2005)	-	-	FAN	-	1	1	Y Yang
00001279	Almeida MR1, Ferlini A, Forabosco A, Gawinowicz M, Costa PP, Salvi F, Plasmati R, Tassinari CA, Altland K, Saraiva MJ.(1992)	-	-	FAN	-	1	1	Y Yang
00001280	Nakamura M1, Hamidi Asl K, Benson MD.(2000)	-	-	FAN	-	1	1	Y Yang
00001281	-	-	-	FAN	-	1	1	Y Yang
00001282	Misrahi AM1, Plante V, Lalu T, Serre L, Adams D, Lacroix DC, Sa?d G.(1998)	-	-	FAN	-	1	1	Y Yang
00001283	Misrahi AM1, Plante V, Lalu T, Serre L, Adams D, Lacroix DC, Sa?d G.(1998)	-	-	FAN	-	1	1	Y Yang
00001284	Bergen HR 3rd1, Zeldenrust SR, Butz ML, Snow DS, Dyck PJ, Dyck PJ, Klein CJ, O'Brien JF, Thibodeau SN, Muddiman DC.(2004)	-	-	FAN	-	1	1	Y Yang
00001285	Yasuda T1, Sobue G, Doyu M, Nakazato M, Shiomi K, Yanagi T, Mitsuma T.(1994)	-	-	FAN	-	1	1	Y Yang
00001286	Tachibana N1, Tokuda T, Yoshida K, Taketomi T, Nakazato M, Li YF, Masuda Y, Ikeda S.(1999)	-	-	FAN	-	1	1	Y Yang
00001287	Altland K1, Benson MD, Costello CE, Ferlini A, Hazenberg BP, Hund E, Kristen AV, Linke RP, Merlini G, Salvi F, Saraiva MJ, Singer R, Skinner M, Winter P.(2007)	-	-	FAN	-	1	1	Y Yang
00001288	Jacobson DR1, Gertz MA, Buxbaum JN.(1994)	-	-	FAN	-	1	1	Y Yang
00001289	Altland K1, Benson MD, Costello CE, Ferlini A, Hazenberg BP, Hund E, Kristen AV, Linke RP, Merlini G, Salvi F, Saraiva MJ, Singer R, Skinner M, Winter P.(2007)	-	-	FAN	-	1	1	Y Yang
00001290	Altland K1, Benson MD, Costello CE, Ferlini A, Hazenberg BP, Hund E, Kristen AV, Linke RP, Merlini G, Salvi F, Saraiva MJ, Singer R, Skinner M, Winter P.(2007)	-	-	FAN	-	1	1	Y Yang
00001291	Ueno S1, Uemichi T, Yorifuji S, Tarui S.(1990)	-	-	FAN	-	1	1	Y Yang
00001292	Murakami T1, Tachibana S, Endo Y, Kawai R, Hara M, Tanase S, Ando M.(1994)	-	-	FAN	-	1	1	Y Yang
00001293	Misrahi AM1, Plante V, Lalu T, Serre L, Adams D, Lacroix DC, Sa?d G.(1998)	-	-	FAN	-	1	1	Y Yang
00001294	Gillmore JD1, Booth DR, Pepys MB, Hawkins PN.(1999)	-	-	FAN	-	1	1	Y Yang
00001295	Saraiva MJ1, Sherman W, Marboe C, Figueira A, Costa P, de Freitas AF, Gawinowicz MA.(1990)	-	-	FAN	-	1	1	Y Yang
00001296	Théberge R1, Connors L, Skare J, Skinner M, Falk RH, Costello CE.(1999)	-	-	FAN	-	1	1	Y Yang
00001297	Bergstr?m J1, Patrosso MC, Colussi G, Salvadore M, Penco S, Lando G, Marocchi A, Ueda A, Nakamura M, Ando Y.(2007)	-	-	FAN	-	1	1	Y Yang

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NDDVD - Neurodegenerative Diseases Variation Database

TTR (transthyretin)