All individuals with variants in gene USH2A

3197 entries on 32 pages. Showing entries 1 - 100.
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00000005 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000033 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000077 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00001785 - - - - - (United States) - - 0 - - RP - 1 1 Feng Wang
00001794 - - - - - (United States) - - 0 - - RP - 2 1 Feng Wang
00001811 - - - - - (United States) - - 0 - - RP - 2 1 Feng Wang
00002995 - - - - - - - - - - - ? Usher type 2 2 1 Marcel Nelen
00002999 - - - - - - - - - - - ?, MD congenital discant severe hearing loss 2 1 Marcel Nelen
00003028 - - - - - - - - 0 - - RP - 2 1 Marcel Nelen
00016604 - - - - - - - - 0 - - - - 1 1 Christopher Watson
00052838 - ? - ? ? ? (unknown) ? - 0 - - retinal disease retinitis pigmentosa 1 1 Muhammad Ajmal
00052949 32 PubMed: Wang 2014 - F ? United States - - 0 - - retinal disease retinitis pigmentosa 3 1 Muhammad Ajmal
00059054 - Karen Avraham laboratory, Tel Aviv university, Israel, unpublished - - yes Israel Arab - 0 - - USH2A high tone HL, no vision problems yet 1 2 Zippi Brownstein
00059161 - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - 0 - - DFNB;ARNSHL - 1 1 Manou Sommen
00059164 - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - 0 - - DFNB;ARNSHL - 1 1 Manou Sommen
00060258 - PubMed: Behar 2014, Journal: Behar 2014 3-generation family, 2 affecteds (F, M), unaffected carrier parents/sibs; family segregates GJB2 and USH2A variants F;M no Israel Iraq, Jewish; Iraq, Jewish (Ashkenazi) - 0 - - USH2A Congenital, moderate HL; retinitis pigmentosa? 2 3 Zippi Brownstein
00074618 51ORG PubMed: de Castro-Miró 2016 - M ? Spain Caucasian - 0 - - RP39 - 2 2 Marta de Castro-Miró
00077971 - PubMed: Jinda 2014 - M ? Thailand ? - 0 - - retinal disease retinitis pigmentosa; At 30 years of age: Pink optic disc; generalized RPE changes without macular involvement; moderate bone spicules. Best corrected visual acuity: OD 6/6, OS 6/9. 2 1 Stéphanie Cornelis
00080017 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - 0 - - deafness - 1 1 Mieke Wesdorp
00080021 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - 0 - - deafness - 1 1 Mieke Wesdorp
00080024 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 2 1 Mieke Wesdorp
00080034 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 3 1 Mieke Wesdorp
00080036 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 2 1 Mieke Wesdorp
00080043 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 2 1 Mieke Wesdorp
00080142 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 2 1 Mieke Wesdorp
00081393 - Kay, submitted EJHG - - - Peru - - 0 - - HD - 1 1 Chris Kay
00100087 PKRD138;61138 PubMed: Maranha 2015, Journal: Maranhao 2015, PubMed: Li 2017 - F yes Pakistan Pakistani - 0 - - retinal disease RP, deafness 2 1 James Hejtmancik
00100088 PKRD141;61141 PubMed: Li 2017 - F yes Pakistan Pakistani - 0 - - RD - 1 1 James Hejtmancik
00100101 PKRD185;61185 PubMed: Maranha 2015, Journal: Maranhao 2015, PubMed: Li 2017 - F yes Pakistan Pakistani - 0 - - retinal disease RP, deafness 1 1 James Hejtmancik
00100103 61191 PubMed: Li 2017 - M yes Pakistan Pakistani - 0 - - retinal disease RP, deafness 1 1 James Hejtmancik
00104992 79ORG1 PubMed: de Castro-Miró 2016 - F no Uganda - - 0 - - USH2A - 2 1 Marta de Castro-Miró
00105021 73ORG1 PubMed: de Castro-Miró 2016 - F no Spain - - 0 - - retinal disease - 2 1 Marta de Castro-Miró
00105026 - PubMed: de Castro-Miró 2014 - F no Spain - - 0 - - USH2A - 2 1 Marta de Castro-Miró
00105027 - PubMed: de Castro-Miró 2014 - F yes Spain - - 0 - - USH2A - 1 1 Marta de Castro-Miró
00105028 - PubMed: de Castro-Miró 2014 - M no Spain - - 0 - - USH2A - 2 1 Marta de Castro-Miró
00105029 - PubMed: de Castro-Miró 2014 - M ? Spain - - 0 - - USH2A - 1 1 Marta de Castro-Miró
00105039 - PubMed: de Castro-Miró 2014 - F no Spain - - 0 - - retinal disease - 2 1 Marta de Castro-Miró
00105040 - PubMed: de Castro-Miró 2014 - F no Spain - - 0 - - retinal disease - 2 1 Marta de Castro-Miró
00105041 - PubMed: de Castro-Miró 2014 - F no Spain - - 0 - - retinal disease - 2 1 Marta de Castro-Miró
00105042 - PubMed: de Castro-Miró 2014 - M no Spain - - 0 - - retinal disease - 2 1 Marta de Castro-Miró
00105046 39ORGrp PubMed: de Castro-Miró 2016 - F - - - - 0 - - retinal disease - 1 1 Marta de Castro-Miró
00105212 - PubMed: de Castro-Miró 2014 - M no Reunion - - 0 - - retinal disease - 2 1 Marta de Castro-Miró
00105213 - PubMed: de Castro-Miró 2014 - M no Spain - - 0 - - retinal disease - 2 1 Marta de Castro-Miró
00143915 - PubMed: Katagiri 2014 index patient F no Japan Japanese - 0 - - retinal disease - 2 1 Rob W.J. Collin
00144313 23591405-Pat1289 PubMed: Glöckle 2014 - - - Germany - - 0 - - retinal disease - 3 1 Johan den Dunnen
00155562 - Sharon, submitted - F yes Israel Druze - 0 - - USH-1 - 1 3 Dror Sharon
00155563 - Sharon, submitted - M yes Israel Oriental Jewish - 0 - - USH-1 - 1 1 Dror Sharon
00155564 - Sharon, submitted - F no Israel Oriental Jewish - 0 - - retinal disease - 2 4 Dror Sharon
00155565 - Sharon, submitted - F no Israel Oriental Jewish - 0 - - USH-1 - 2 3 Dror Sharon
00155566 - Sharon, submitted - F no Israel Ashkenazi Jewish - 0 - - retinal disease - 2 1 Dror Sharon
00155567 - Sharon, submitted - F no Israel Jewish - 0 - - retinal disease - 1 1 Dror Sharon
00155568 - Sharon, submitted - M no Israel Ashkenazi Jewish - 0 - - retinal disease - 2 2 Dror Sharon
00155569 - Sharon, submitted - F no Israel Ashkenazi Jewish - 0 - - retinal disease - 2 1 Dror Sharon
00155570 - Sharon, submitted - M no Israel Ashkenazi Jewish - 0 - - retinal disease - 2 1 Dror Sharon
00155571 MOL0897 PubMed: Kimchi 2018 - M no Israel Ashkenazi Jewish - 0 - - retinal disease - 1 2 Dror Sharon
00155572 - Sharon, submitted - M no Israel Indian Jewish - 0 - - retinal disease - 2 1 Dror Sharon
00155573 - Sharon, submitted - F no Israel Oriental Jewish - 0 - - USH-1 - 2 2 Dror Sharon
00155574 - Sharon, submitted - F yes Israel north African Jewish - 0 - - USH-1 - 1 4 Dror Sharon
00155575 - Sharon, submitted - M yes Israel north African Jewish - 0 - - retinal disease - 2 1 Dror Sharon
00155576 - Sharon, submitted - F no Israel north African Jewish - 0 - - retinal disease - 2 2 Dror Sharon
00155577 - Sharon, submitted - F yes Israel Arab-Muslim - 0 - - USH-1 - 1 4 Dror Sharon
00155578 - Sharon, submitted - M no Israel Jewish - 0 - - retinal disease - 2 1 Dror Sharon
00155579 - Sharon, submitted - M yes Israel Arab Christian - 0 - - USH-1 - 1 1 Dror Sharon
00155580 MOL1234 PubMed: Sharon 2015, PubMed: Beryozkin 2015, PubMed: Sharon 2019 family M yes Israel Arab-Muslim - 0 - - retinal disease - 2 2 Dror Sharon
00155581 - Sharon, submitted - M no Israel Jewish - 0 - - USH-1 - 2 1 Dror Sharon
00155582 - Sharon, submitted - F yes Israel Yemenite Jewish - 0 - - USH-1 - 2 2 Dror Sharon
00155583 - Sharon, submitted - M no Israel north African Jewish - 0 - - USH-1 - 1 1 Dror Sharon
00155584 MOL1141 PubMed: Sharon 2019 - M no Israel Oriental Jewish - 0 - - retinal disease - 2 1 Dror Sharon
00155585 - Sharon, submitted - F yes Israel Oriental Jewish - 0 - - USH-1 - 1 2 Dror Sharon
00155586 - Sharon, submitted - F no Israel Moroccan Jewish - 0 - - retinal disease - 2 2 Dror Sharon
00155587 - Sharon, submitted - F no Israel Moroccan Jewish - 0 - - USH-1 - 1 4 Dror Sharon
00155588 - Sharon, submitted - F yes Israel Arab-Muslim - 0 - - USH-1 - 1 3 Dror Sharon
00155589 - Sharon, submitted - F yes Israel Oriental Jewish - 0 - - USH-1 - 1 2 Dror Sharon
00155590 - Sharon, submitted - M no Israel Jewish - 0 - - retinal disease - 2 1 Dror Sharon
00165702 - PubMed: Aparisi 2014 Proband M - Spain - - 0 - - USH-2 - 24 1 Jose Maria Millan
00165729 - PubMed: Baux 2008 Proband F - France - - 0 - - USH-1 - 1 1 Anne-Françoise Roux
00166516 - PubMed: Saihan 2011 Proband F - United Kingdom (Great Britain) - - 0 - - retinal disease - 3 1 Maria Bitner-Glindzicz
00166519 - PubMed: Bonnet 2011 Proband F - - - - 0 - - USH-1 - 1 1 Anne-Françoise Roux
00166527 - PubMed: Bonnet 2011 Proband - - - - - 0 - - USH-2 - 1 1 Anne-Françoise Roux
00166564 - PubMed: Vozzi 2011 Proband - - Italy - - 0 - - USH-2 - 1 1 Anne-Françoise Roux
00166565 - PubMed: Vozzi 2011 Proband - - Italy - - 0 - - USH-2 - 1 1 Anne-Françoise Roux
00166590 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 3 1 Maria Bitner-Glindzicz
00166591 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 14 1 Maria Bitner-Glindzicz
00166592 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 5 1 Maria Bitner-Glindzicz
00166593 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 5 1 Maria Bitner-Glindzicz
00166594 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 5 1 Maria Bitner-Glindzicz
00166595 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 2 1 Maria Bitner-Glindzicz
00166596 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 2 1 Maria Bitner-Glindzicz
00166597 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-1 - 5 1 Maria Bitner-Glindzicz
00166598 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 7 1 Maria Bitner-Glindzicz
00166599 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 4 1 Maria Bitner-Glindzicz
00166600 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-1 - 4 1 Maria Bitner-Glindzicz
00166601 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 2 1 Maria Bitner-Glindzicz
00166602 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-3 - 3 1 Maria Bitner-Glindzicz
00166603 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-3 - 1 1 Maria Bitner-Glindzicz
00166604 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 23 1 Maria Bitner-Glindzicz
00166605 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 3 1 Maria Bitner-Glindzicz
00166606 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 4 1 Maria Bitner-Glindzicz
00166607 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - 4 1 Maria Bitner-Glindzicz
00166608 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-1 - 1 1 Maria Bitner-Glindzicz
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