All individuals with variants in gene MYO6

97 entries on 1 page. Showing entries 1 - 97.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00002997 - - - - - - - - - - - ? slowly progressive hearing loss 1 1 Marcel Nelen
00003000 - - - - - - - - - - - ?, MD bowlshaped hearing loss 1 1 Marcel Nelen
00050621 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected parents M - United Kingdom (Great Britain) - - 0 Decipher - ? global developmental delay, aggressive behavior, restrictive behavior, microcephaly, abnormal facial shape, macrotia, abnormality of eye movement 1 2 Johan den Dunnen
00059028 - - - - no Israel Ashkenazi Jew - 0 - - DFNA-22 Teen onset (12-17y), moderate-profound hearing loss 1 3 Zippi Brownstein
00059163 - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - 0 - - DFNB;ARNSHL - 2 1 Manou Sommen
00059164 - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - 0 - - DFNB;ARNSHL - 1 1 Manou Sommen
00059165 - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - 0 - - DFNB;ARNSHL - 1 1 Manou Sommen
00079876 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - 0 - - DFNA - 1 1 Mieke Wesdorp
00080003 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 1 1 Mieke Wesdorp
00080008 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 1 1 Mieke Wesdorp
00080015 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 1 1 Mieke Wesdorp
00080055 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 1 1 Mieke Wesdorp
00080059 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 2 1 Mieke Wesdorp
00080139 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 1 1 Mieke Wesdorp
00163052 - PubMed: Ahmed et al., 2003 proband F - Pakistan - - 0 - - DFNB Vestibular dysfunction 1 1 Anne-Françoise Roux
00163053 - PubMed: Ahmed et al., 2003 relative M - Pakistan - - 0 - - DFNB - 1 1 Anne-Françoise Roux
00163054 - PubMed: Ahmed et al., 2003 relative M - Pakistan - - 0 - - DFNB Mild facial dysmorphology 1 1 Anne-Françoise Roux
00163055 - PubMed: Ahmed et al., 2003 relative M - Pakistan - - 0 - - DFNB Mild facial dysmorphology 1 1 Anne-Françoise Roux
00163056 - PubMed: Ahmed et al., 2003 relative F - Pakistan - - 0 - - DFNB RP and vestibular abnormality 1 1 Anne-Françoise Roux
00163057 - PubMed: Ahmed et al., 2003 relative F - Pakistan - - 0 - - DFNB - 1 1 Anne-Françoise Roux
00163058 - PubMed: Volk et al., 2013 proband M - Germany - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163059 - PubMed: Volk et al., 2013 relative F - Germany - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163060 - PubMed: Volk et al., 2013 relative F - Germany - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163061 - PubMed: Volk et al., 2013 relative F - Germany - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163062 - PubMed: Volk et al., 2013 relative F - Germany - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163063 - PubMed: Volk et al., 2013 relative M - Germany - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163064 - PubMed: Choi et al., 2013 proband M - Korea - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163065 - PubMed: Choi et al., 2013 proband F - Korea - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163066 - PubMed: Miyagawa et al., 2013 proband F - Japan - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163067 - PubMed: Kwon et al., 2014 proband F - Korea - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163068 - PubMed: Ahmed et al., 2003 proband M - Pakistan - - 0 - - DFNB - 1 1 Anne-Françoise Roux
00163069 - PubMed: Yang et al., 2013 proband - - China - - 0 - - DFNB - 2 1 Anne-Françoise Roux
00163070 - PubMed: Mohiddin et al., 2004 proband M - - - - 0 - - DFNA Cardiac hypertrophy and QT interval prolongation 1 1 Anne-Françoise Roux
00163071 - PubMed: Mohiddin et al., 2004 relative M - - - - 0 - - DFNA Cardiac hypertrophy and QT interval prolongation 1 1 Anne-Françoise Roux
00163072 - PubMed: Mohiddin et al., 2004 relative M - - - - 0 - - DFNA Cardiac hypertrophy and QT interval prolongation 1 1 Anne-Françoise Roux
00163073 - PubMed: Mohiddin et al., 2004 relative M - - - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163074 - PubMed: Mohiddin et al., 2004 relative F - - - - 0 - - DFNA Abnormal ECG 1 1 Anne-Françoise Roux
00163075 - PubMed: Mohiddin et al., 2004 relative F - - - - 0 - - DFNA Abnormal ECG 1 1 Anne-Françoise Roux
00163076 - PubMed: Mohiddin et al., 2004 relative F - - - - 0 - - DFNA Cardiac hypertrophy and QT interval prolongation 1 1 Anne-Françoise Roux
00163077 - PubMed: Mohiddin et al., 2004 relative M - - - - 0 - - DFNA Abnormal ECG 1 1 Anne-Françoise Roux
00163078 - PubMed: Mohiddin et al., 2004 relative F - - - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163079 - PubMed: Mohiddin et al., 2004 relative F - - - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163080 - PubMed: Shearer et al., 2010 proband - - - - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163081 - PubMed: Brownstein et al., 2014 proband - homozygous for semi-dominant mutation F - Palestine - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163082 - PubMed: Brownstein et al., 2014 relative M - Palestine - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163083 - PubMed: Brownstein et al., 2014 relative F - Palestine - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163084 - PubMed: Brownstein et al., 2014 relative M - Palestine - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163085 - PubMed: Brownstein et al., 2014 relative M - Palestine - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163086 - PubMed: Melchionda et al., 2001 proband M - Italy - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163087 - PubMed: Melchionda et al., 2001 relative F - Italy - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163088 - PubMed: Melchionda et al., 2001 relative M - Italy - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163089 - PubMed: Melchionda et al., 2001 relative F - Italy - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163090 - PubMed: Melchionda et al., 2001 relative F - Italy - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163091 - PubMed: Melchionda et al., 2001 relative F - Italy - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163092 - PubMed: Melchionda et al., 2001 relative M - Italy - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163093 - PubMed: Melchionda et al., 2001 relative F - Italy - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163094 - PubMed: Melchionda et al., 2001 relative F - Italy - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163095 - PubMed: Miyagawa et al., 2013 proband F - Japan - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163096 - PubMed: Miyagawa et al., 2013 relative M - Japan - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163097 - PubMed: Miyagawa et al., 2013 relative M - Japan - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163098 - PubMed: Hilgert et al., 2008 proband F - Belgium - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163099 - PubMed: Hilgert et al., 2008 relative F - Belgium - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163100 - PubMed: Kwon et al., 2014 proband M - Korea - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163101 - PubMed: Sanggaard et al., 2008 relative M - Denmark - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163102 - PubMed: Sanggaard et al., 2008 relative F - Denmark - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163103 - PubMed: Kwon et al., 2014 proband F - Korea - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163104 - PubMed: Brownstein et al., 2014 proband M - Palestine - - 0 - - DFNB - 1 1 Anne-Françoise Roux
00163105 - PubMed: Brownstein et al., 2014 relative F - Palestine - - 0 - - DFNB - 1 1 Anne-Françoise Roux
00163106 - PubMed: Cheng et al., 2014 proband F - China - - 0 - - DFNA Mild to moderate 1 1 Anne-Françoise Roux
00163107 - PubMed: Cheng et al., 2014 relative M - China - - 0 - - DFNA Mild and COCH mutation 1 1 Anne-Françoise Roux
00163108 - PubMed: Cheng et al., 2014 relative M - China - - 0 - - DFNA Moderate and COCH mutation 1 1 Anne-Françoise Roux
00163109 - PubMed: Cheng et al., 2014 relative F - China - - 0 - - DFNA Moderate 1 1 Anne-Françoise Roux
00163110 - PubMed: Yang et al., 2013 proband F - China - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163111 - PubMed: Yang et al., 2013 relative F - China - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163112 - PubMed: Yang et al., 2013 relative F - China - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163113 - PubMed: Yang et al., 2013 relative M - China - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163114 - PubMed: Yang et al., 2013 relative M - China - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163115 - PubMed: Kwon et al., 2014 proband F - Korea - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163116 - PubMed: Ahmed et al., 2003 proband M - Pakistan - - 0 - - DFNB - 1 1 Anne-Françoise Roux
00163117 - PubMed: Ahmed et al., 2003 relative F - Pakistan - - 0 - - DFNB - 1 1 Anne-Françoise Roux
00163118 - PubMed: Ahmed et al., 2003 relative F - Pakistan - - 0 - - DFNB - 1 1 Anne-Françoise Roux
00163119 - PubMed: Ahmed et al., 2003 relative F - Pakistan - - 0 - - DFNB - 1 1 Anne-Françoise Roux
00163120 - PubMed: Ahmed et al., 2003 relative F - Pakistan - - 0 - - DFNB - 1 1 Anne-Françoise Roux
00163121 - PubMed: Oonk et al., 2013 proband F - Netherlands - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163122 - PubMed: Oonk et al., 2013 relative F - Netherlands - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163123 - PubMed: Oonk et al., 2013 relative F - Netherlands - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163124 - PubMed: Oonk et al., 2013 relative M - Netherlands - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00163125 - PubMed: Oonk et al., 2013 relative F - Netherlands - - 0 - - DFNA - 1 1 Anne-Françoise Roux
00168028 S1761 PubMed: Baux 2017 Proband F - France - - 0 - - DFNB - 1 1 Anne-Françoise Roux
00266352 - - - F - - - - 0 - - - Hearing impairment (HP:0000365) 1 1 Gunnar Schmidt
00267027 - - - M no Argentina - - 0 - - deafness Postlingual, moderate, variable nonsyndromic hearing loss. 1 6 Viviana Karina Dalamón
00294205 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00294206 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00294207 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 38 Mohammed Faruq
00294208 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 132 Mohammed Faruq
00305118 - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00305119 - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
Legend   How to query