All individuals with variants in gene B3GLCT

63 entries on 1 page. Showing entries 1 - 63.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

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Consanguinity     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00000019 - PubMed: Almomani 2011 - - - - - - 0 - - autism, BMD/DMD, TSC - 8 1 Global Variome, with Curator vacancy
00000029 - PubMed: Almomani 2011 - - - - - - 0 - - - - 6 1 Global Variome, with Curator vacancy
00000102 - PubMed: Almomani 2011 - - - - - - - - - - - 6 1 Global Variome, with Curator vacancy
00046356 - PubMed: Lesnik Oberstein 2006 two brothers; lymphocyte RNA M - Netherlands - - 0 - - Peters-plus syndrome Ant.eye chamber anomaly, No Renal anomaly 2 1 Martine van Belzen
00046357 - PubMed: Lesnik Oberstein 2006 sister of 1201.6 / 68882; lymphocyte RNA F - Netherlands - - 0 - - Peters-plus syndrome Ant.eye chamber anomaly, No Renal anomaly, Peters anomaly (HP:0000659) 2 1 Martine van Belzen
00046358 - PubMed: Lesnik Oberstein 2006 brother of 1201.5 / 68882; lymphocyte RNA M - Netherlands - - 0 - - Peters-plus syndrome Ant.eye chamber anomaly, No Renal anomaly, Peters anomaly (HP:0000659) 2 1 Martine van Belzen
00046359 - PubMed: Lesnik Oberstein 2006 sister of 1200.2 F - Netherlands - - 0 - - Peters-plus syndrome Ant.eye chamber anomaly, No Renal anomaly, Peters anomaly (HP:0000659) 1 1 Martine van Belzen
00046360 - PubMed: Lesnik Oberstein 2006 sister of 1200.1 F - Netherlands - - 0 - - Peters-plus syndrome Ant.eye chamber anomaly, No Renal anomaly, Peters anomaly (HP:0000659) 1 1 Martine van Belzen
00046361 - PubMed: Lesnik Oberstein 2006 sister of 1100.2 F - Netherlands - - 0 - - Peters-plus syndrome Ant.eye chamber anomaly, Renal anomaly, No Peters anomaly (HP:0000659) 1 1 Martine van Belzen
00046362 - PubMed: Lesnik Oberstein 2006 brother of 1100.1 M - Netherlands - - 0 - - Peters-plus syndrome Ant.eye chamber anomaly, No Renal anomaly, No Peters anomaly (HP:0000659) 1 1 Martine van Belzen
00046363 - PubMed: Lesnik Oberstein 2006 - F - Netherlands - - 0 - - Peters-plus syndrome Ant.eye chamber anomaly, No Renal anomaly, Peters anomaly (HP:0000659) 1 1 Martine van Belzen
00046364 - PubMed: Lesnik Oberstein 2006 - M - Netherlands - - 0 - - Peters-plus syndrome Ant.eye chamber anomaly, No Renal anomaly, No Peters anomaly (HP:0000659) 1 1 Martine van Belzen
00046365 - PubMed: Lesnik Oberstein 2006 - M - Turkey - - 0 - - Peters-plus syndrome Ant.eye chamber anomaly, No Renal anomaly, Peters anomaly (HP:0000659) 1 1 Martine van Belzen
00046366 - PubMed: Lesnik Oberstein 2006 - F - Netherlands - - 0 - - Peters-plus syndrome Ant.eye chamber anomaly, No Renal anomaly, No Peters anomaly (HP:0000659) 1 1 Martine van Belzen
00046367 - PubMed: Lesnik Oberstein 2006 - M - Netherlands - - 0 - - Peters-plus syndrome Ant.eye chamber anomaly, No Renal anomaly, Peters anomaly (HP:0000659) 1 1 Martine van Belzen
00046368 - PubMed: Lesnik Oberstein 2006 sister of 1900.2 F - Netherlands - - 0 - - Peters-plus syndrome Ant.eye chamber anomaly, No Renal anomaly, Peters anomaly (HP:0000659) 1 1 Martine van Belzen
00046369 - PubMed: Lesnik Oberstein 2006 brother of 1900.1 M - Netherlands - - 0 - - Peters-plus syndrome Ant.eye chamber anomaly, No Renal anomaly, Peters anomaly (HP:0000659) 1 1 Martine van Belzen
00046370 - PubMed: Lesnik Oberstein 2006 - F - Netherlands - - 0 - - Peters-plus syndrome Ant.eye chamber anomaly, No Renal anomaly, Peters anomaly (HP:0000659) 1 1 Martine van Belzen
00046371 - PubMed: Lesnik Oberstein 2006 - M - Netherlands - - 0 - - Peters-plus syndrome Ant.eye chamber anomaly, No Renal anomaly, Peters anomaly (HP:0000659) 1 1 Martine van Belzen
00046372 - PubMed: Lesnik Oberstein 2006 - M - United Kingdom (Great Britain) - - 0 - - Peters-plus syndrome Ant.eye chamber anomaly, No Renal anomaly, Peters anomaly (HP:0000659) 1 1 Martine van Belzen
00046373 - PubMed: Lesnik Oberstein 2006 - F - - Arab - 0 - - Peters-plus syndrome Ant.eye chamber anomaly, No Renal anomaly, Peters anomaly (HP:0000659) 1 1 Martine van Belzen
00046374 - PubMed: Lesnik Oberstein 2006 - M - India - - 0 - - Peters-plus syndrome Ant.eye chamber anomaly, Renal anomaly ?, Peters anomaly (HP:0000659) 1 1 Martine van Belzen
00046375 - - - - - - - - 0 - - Peters-plus syndrome - 1 1 Martine van Belzen
00046376 - - - M - - - - 0 - - Peters-plus syndrome - 1 1 Martine van Belzen
00046377 - - - M - - - - 0 - - Peters-plus syndrome - 1 1 Martine van Belzen
00046378 - - - M - - - - 0 - - Peters-plus syndrome - 1 1 Martine van Belzen
00046379 - - - - - - - - 0 - - ? - 1 1 Martine van Belzen
00046380 - - - - - Netherlands - - 0 - - ? - 1 1 Martine van Belzen
00046381 - - - - - - - - 0 - - ? - 1 1 Martine van Belzen
00046382 - - - - - - - - 0 - - ? - 1 1 Martine van Belzen
00046383 - - - - - - - - 0 - - ? - 1 1 Martine van Belzen
00046384 - - found twice (identical sequence) dbSNP - - Netherlands - - 0 - - ? - 1 1 Martine van Belzen
00046385 - - - - - - - - 0 - - ? - 1 1 Martine van Belzen
00046386 - - - - - Netherlands - - 0 - - ? - 1 1 Martine van Belzen
00046387 - - - - - Netherlands - - 0 - - ? - 1 1 Martine van Belzen
00046388 - - - - - Netherlands - - 0 - - ? - 1 1 Martine van Belzen
00046389 - - - - - Netherlands - - 0 - - ? - 1 1 Martine van Belzen
00046390 - - - - - Netherlands - - 0 - - ? - 1 1 Martine van Belzen
00046391 - - - - - Netherlands - - 0 - - ? - 1 1 Martine van Belzen
00046392 - - - - - Netherlands - - 0 - - ? - 1 1 Martine van Belzen
00046393 - - - - - Netherlands - - 0 - - ? - 1 1 Martine van Belzen
00046394 - - - - - Netherlands - - 0 - - ? - 1 1 Martine van Belzen
00046395 - - - - - Netherlands - - 0 - - ? - 1 1 Martine van Belzen
00046396 - - - - - Netherlands - - 0 - - ? - 1 1 Martine van Belzen
00046397 - - - - - Netherlands - - 0 - - ? - 1 1 Martine van Belzen
00046398 - - - F - Belgium - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00046399 - - - M - United Kingdom (Great Britain) - - 0 - - ? - 1 1 Martine van Belzen
00046400 - - - M - United Kingdom (Great Britain) - - 0 - - ? - 1 1 Martine van Belzen
00046401 - - - F - - - - 0 - - ? - 1 1 Martine van Belzen
00046402 - PubMed: Reis 2008 - F - - Caucasian - 0 - - Peters-plus syndrome - 1 1 Global Variome, with Curator vacancy
00046403 - PubMed: Reis 2008 - F - - Caucasian - 0 - - Peters-plus syndrome - 1 1 Global Variome, with Curator vacancy
00046404 - - - - - - - - 0 - - Peters-plus syndrome - 1 1 Martine van Belzen
00046405 - - - - - - - - 0 - - Peters-plus syndrome - 1 1 Martine van Belzen
00046406 - - Peters plus syndrome - - - - - 0 - - Peters-plus syndrome - 1 1 Martine van Belzen
00046407 - {PMID18759095:Kapoor 2008:18759095} - M - India - - 0 - - Peters-plus syndrome - 1 1 Johan den Dunnen
00046408 - - - - - - - - 0 - - ? - 22 1 Johan den Dunnen
00046409 - PubMed: Dassie-Ajdid 2009 - - - (France) - - 0 - - Peters-plus syndrome - 1 1 Johan den Dunnen
00046410 - PubMed: Dassie-Ajdid 2009 - M - Sri Lanka - - 0 - - Peters-plus syndrome - 2 1 Johan den Dunnen
00046619 - PubMed: Almomani 2011 - - - - - - 0 - - - - 4 1 Johan den Dunnen
00046620 - PubMed: Almomani 2011 - - - - - - 0 - - - - 3 1 Johan den Dunnen
00046621 - PubMed: Almomani 2011 - - - - - - 0 - - - - 2 1 Johan den Dunnen
00046622 - PubMed: Almomani 2011 - - - - - - 0 - - - - 1 1 Johan den Dunnen
00095121 - - - ? ? United Kingdom (Great Britain) - - 0 Yes - Peters-plus syndrome intrauterine growth retardation (HP:0001511), hypertelorism (HP:0000316), ventriculomegaly (HP:0002119) 1 1 Karen Stals
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