Full data view for gene MYO7A


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_000260.3 transcript reference sequence.

77 entries on 1 page. Showing entries 1 - 77.
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?/. - c.3719G>A r.(?) p.(Arg1240Gln) - Unknown - VUS g.76901153G>A g.77190108G>A - - MYO7A_000033 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - DFNB;ARNSHL - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - 1 Manou Sommen
+/. - c.3719G>A r.(?) p.(Arg1240Gln) - Unknown - pathogenic g.76901153G>A g.77190108G>A MYO7A(NM_000260.3):c.3719G>A (p.R1240Q), MYO7A(NM_000260.4):c.3719G>A (p.R1240Q) - MYO7A_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3719G>A r.(?) p.(Arg1240Gln) - Unknown - pathogenic g.76901153G>A g.77190108G>A MYO7A(NM_000260.3):c.3719G>A (p.R1240Q), MYO7A(NM_000260.4):c.3719G>A (p.R1240Q) - MYO7A_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Maternal (confirmed) - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Heterozygous PubMed: Le Quesne Stabej 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - 0/878 controls none - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Maternal (inferred) - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Heterozygous PubMed: Le Quesne Stabej 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - 0/878 controls none - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Parent #2 - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Heterozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - 0/1414 controls none - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 29 c.3719G>A r.3719g>a p.Arg1240Gln MyTH4 1 (1017-1253) Parent #1 - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Heterozygous; No effect on splicing PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - 0/1414 controls none - - DNA, RNA RT-PCR, SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Parent #2 - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Heterozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - 0/1414 controls none - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Paternal (inferred) - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Homozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - 0/1414 controls none - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Maternal (inferred) - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Homozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - 0/1414 controls none - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Parent #2 - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - 0/1414 controls none - - DNA minigene, SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Parent #2 - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Heterozygous PubMed: Gerber 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Gerber 2006 Proband - - France - - - - - 1 Anne-Françoise Roux
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Parent #2 - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Heterozygous PubMed: Gerber 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Gerber 2006 Proband - - France - - - - - 1 Anne-Françoise Roux
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Parent #2 - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Heterozygous PubMed: Pennings 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Pennings 2006 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Parent #2 - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Heterozygous PubMed: Pennings 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Pennings 2006 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Parent #1 - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Heterozygous PubMed: Pennings 2004; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Parent #1 - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Heterozygous PubMed: Pennings 2004; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Pennings 2004 Relative - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Parent #1 - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Heterozygous PubMed: Pennings 2004; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Pennings 2004 Relative - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Paternal (inferred) - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Homozygous PubMed: Pennings 2004; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Maternal (inferred) - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Homozygous PubMed: Pennings 2004; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Parent #2 - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Heterozygous PubMed: Pennings 2004; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Unknown - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Heterozygous PubMed: Pennings 2004; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Parent #2 - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Heterozygous PubMed: Jaijo 2007; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Jaijo 2007 Proband F - Italy - - - - - 1 Jose Maria Millan
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Parent #1 - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Heterozygous PubMed: Jaijo 2010; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Jaijo 2010 Proband - - Spain - - - - - 1 Jose Maria Millan
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Parent #1 - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Heterozygous PubMed: Jaijo 2010; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Jaijo 2010 Proband - - Spain - - - - - 1 Jose Maria Millan
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Paternal (inferred) - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Homozygous Weston 1998, Assoc Res Otolaryngol Abs, p. 46, 1998 - rs111033178 Germline - 0/192 controls none - - DNA SEQ - - USH1B ? Weston 1998, Assoc Res Otolaryngol Abs, p. 46, 1998 Proband - - United States - - - - - 1 William J. Kimberling
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Maternal (inferred) - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Homozygous Weston 1998, Assoc Res Otolaryngol Abs, p. 46, 1998 - rs111033178 Germline - 0/192 controls none - - DNA SEQ - - USH1B ? Weston 1998, Assoc Res Otolaryngol Abs, p. 46, 1998 Proband - - United States - - - - - 1 William J. Kimberling
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Parent #1 - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Heterozygous PubMed: Bharadwaj 2000; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - 0/172 controls none - - DNA SEQ - - USH1B ? PubMed: Bharadwaj 2000 Proband - - United Kingdom (Great Britain) - - - - - 1 Anne-Françoise Roux
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Paternal (inferred) - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Homozygous PubMed: Jacobson 2008; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Jacobson 2008 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Maternal (inferred) - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Homozygous PubMed: Jacobson 2008; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - - none - - DNA SEQ - - USH1B ? PubMed: Jacobson 2008 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Parent #1 - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - 0/1414 controls none - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Unknown - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - 0/1414 controls none - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Unknown - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - 0/1414 controls none - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - - - - - - - 1 Anne-Françoise Roux
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Unknown - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - 0/1414 controls none - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - - - - - - - 1 Anne-Françoise Roux
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Parent #2 - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Heterozygous; Presumably pathogenic PubMed: Bonnet 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - 0/306 controls none - - DNA SEQ - - USH1B ? PubMed: Bonnet 2011 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Unknown - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Heterozygous PubMed: Bujakowska 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - - none - - DNA SEQ, SEQ-NG-S - - USH1B ? PubMed: Bujakowska 2014 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Paternal (inferred) - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Homozygous; mutation PubMed: Bonnet 2016; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1B ? PubMed: Bonnet 2016 Proband - - Germany - - - - - 1 Crystel Bonnet
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Maternal (inferred) - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Homozygous; mutation PubMed: Bonnet 2016; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1B ? PubMed: Bonnet 2016 Proband - - Germany - - - - - 1 Crystel Bonnet
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Unknown - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Heterozygous; mutation PubMed: Bonnet 2016; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1B ? PubMed: Bonnet 2016 Proband - - Germany - - - - - 1 Crystel Bonnet
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Unknown - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Heterozygous; mutation PubMed: Bonnet 2016; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1B ? PubMed: Bonnet 2016 Proband F - Germany - - - - - 1 Crystel Bonnet
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Parent #1 - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Heterozygous; mutation PubMed: Bonnet 2016; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1B ? PubMed: Bonnet 2016 Proband F - Germany - - - - - 1 Crystel Bonnet
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Paternal (inferred) - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Homozygous; mutation PubMed: Bonnet 2016; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1B ? PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Maternal (inferred) - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Homozygous; mutation PubMed: Bonnet 2016; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1B ? PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Parent #1 - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Heterozygous; mutation PubMed: Bonnet 2016; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1B ? PubMed: Bonnet 2016 Proband F - France - - - - - 1 Crystel Bonnet
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Parent #1 - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Heterozygous; mutation PubMed: Bonnet 2016; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1B ? PubMed: Bonnet 2016 Proband M - France - - - - - 1 Crystel Bonnet
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Paternal (inferred) - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Homozygous; mutation PubMed: Bonnet 2016; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1B ? PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Maternal (inferred) - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Homozygous; mutation PubMed: Bonnet 2016; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1B ? PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/+ 29 c.3719G>A r.(3719g>a) p.(Arg1240Gln) MyTH4 1 (1017-1253) Parent #1 - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 Heterozygous; mutation PubMed: Bonnet 2016; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs111033178 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1B ? PubMed: Bonnet 2016 Proband - - Slovenia - - - - - 1 Crystel Bonnet
+/. - c.3719G>A r.(?) p.(Arg1240Gln) - Unknown - pathogenic g.76901153G>A g.77190108G>A MYO7A(NM_000260.3):c.3719G>A (p.R1240Q), MYO7A(NM_000260.4):c.3719G>A (p.R1240Q) - MYO7A_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3719G>A r.(?) p.(Arg1240Gln) - Unknown - pathogenic (recessive) g.76901153G>A - 11:76901153G>A ENST00000409709.3:c.3719G>A (Arg1240Gln) - MYO7A_000033 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G004992 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.3719G>A r.(?) p.(Arg1240Gln) - Parent #1 - likely pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 524 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.3719G>A r.(?) p.(Arg1240Gln) - Parent #1 - likely pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 525 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.3719G>A r.(?) p.(Arg1240Gln) - Parent #1 - likely pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 - PubMed: Riera 2017 - - Germline yes - - - - DNA SEQ-NG - 212-gene panel retinal disease Fi15/35 PubMed: Riera 2017 family, several affected - - Spain - - - - - 2 LOVD
+/. - c.3719G>A r.(?) p.(Arg1240Gln) - Parent #2 - pathogenic (recessive) g.76901153G>A - - - MYO7A_000033 - PubMed: Janecke 1999, PubMed: Dad 2016 - - Germline - - - - - DNA SEQ - - USH ?;USH1-7 PubMed: Janecke 1999, PubMed: Dad 2016 proband M - Denmark - - - - - 1 Anne-Françoise Roux
+/. 29 c.3719G>A r.(?) p.(Arg1240Gln) - Parent #1 - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 unknown variant 2nd chromosome PubMed: Cremers 2007 - - Germline - - - - - DNA PE - - retinal disease USH1-27 PubMed: Cremers 2007 - M no Denmark - - - - - 1 LOVD
+/. 29 c.3719G>A r.(?) p.(Arg1240Gln) - Parent #2 - pathogenic (recessive) g.76901153G>A g.77190108G>A - - MYO7A_000033 - PubMed: Dad 2016 - - Germline - - - - - DNA PE - - retinal disease USH1-29A PubMed: Dad 2016 - M no Denmark - - - - - 1 LOVD
+/. - c.3719G>A r.(?) p.(Arg1240Gln) - Parent #1 - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 - PubMed: Neuhaus 2017 - rs111033178 Germline yes - - - - DNA SEQ-NG - gene panel USH Pat5 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. - c.3719G>A r.(?) p.(Arg1240Gln) - Both (homozygous) - pathogenic g.76901153G>A g.77190108G>A - - MYO7A_000033 - PubMed: Neuhaus 2017 - rs111033178 Germline yes - - - - DNA SEQ-NG - gene panel USH Pat50 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. - c.3719G>A r.(?) p.(Arg1240Gln) - Unknown ACMG pathogenic g.76901153G>A - - - MYO7A_000033 - PubMed: Mansard et al, 2021 - rs111033178 Germline - - - - - DNA SEQ-NG, SEQ - - USH1 - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.3719G>A r.(?) p.(Arg1240Gln) - Maternal (confirmed) ACMG pathogenic g.76901153G>A - - - MYO7A_000033 - PubMed: Mansard et al, 2021 - rs111033178 Germline - - - - - DNA SEQ-NG, SEQ - - USH1 - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+/. - c.3719G>A r.(?) p.(Arg1240Gln) - Unknown ACMG pathogenic g.76901153G>A - - - MYO7A_000033 - PubMed: Mansard et al, 2021 - rs111033178 Germline - - - - - DNA SEQ-NG, SEQ - - USH1 - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.3719G>A r.(?) p.(Arg1240Gln) - Maternal (confirmed) ACMG pathogenic g.76901153G>A - - - MYO7A_000033 - PubMed: Mansard et al, 2021 - rs111033178 Germline - - - - - DNA SEQ-NG, SEQ - - USH1 - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+/. - c.3719G>A r.(?) p.(Arg1240Gln) - Unknown ACMG pathogenic g.76901153G>A - - - MYO7A_000033 - PubMed: Mansard et al, 2021 - rs111033178 Germline - - - - - DNA SEQ-NG, SEQ - - USH1 - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+/. - c.3719G>A r.(?) p.(Arg1240Gln) - Paternal (confirmed) ACMG pathogenic g.76901153G>A - - - MYO7A_000033 - PubMed: Mansard et al, 2021 - rs111033178 Germline - - - - - DNA SEQ-NG, SEQ - - USH1 - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+/. - c.3719G>A r.(?) p.(Arg1240Gln) - Maternal (confirmed) ACMG pathogenic g.76901153G>A - - - MYO7A_000033 - PubMed: Mansard et al, 2021 - rs111033178 Germline - - - - - DNA SEQ-NG, SEQ - - USH1 - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+/. - c.3719G>A r.(?) p.(Arg1240Gln) - Paternal (confirmed) ACMG pathogenic g.76901153G>A - - - MYO7A_000033 - PubMed: Mansard et al, 2021 - rs111033178 Germline - - - - - DNA SEQ-NG, SEQ - - USH1 - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+?/. - c.3719G>A r.(?) p.(Arg1240Gln) - Parent #1 - likely pathogenic g.76901153G>A g.77190108G>A MYO7A, variant 1: c.3719G>A/p.R1240Q, variant 2: c.3719G>A/p.R1240Q - MYO7A_000033 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 166 PubMed: Weisschuh 2020 Filing key number: 66, Usher syndrome type I, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.3719G>A r.(?) p.(Arg1240Gln) - Parent #1 - likely pathogenic g.76901153G>A g.77190108G>A MYO7A, variant 1: c.52C>T/p.Q18*, variant 2: c.3719G>A/p.R1240Q - MYO7A_000033 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 159 PubMed: Weisschuh 2020 Filing key number: 65, Usher syndrome type I, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.3719G>A r.(?) p.(Arg1240Gln) - Unknown - likely pathogenic g.76901153G>A g.77190108G>A MYO7A c.3719G>A, p.Arg1240Gln - MYO7A_000033 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G004992 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. 29 c.3719G>A r.(?) p.(Arg1240Gln) - Unknown - pathogenic g.76901153G>A - c.3719G>A - MYO7A_000033 - PubMed: Colombo-2020 - rs111033178 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+/. 29 c.3719G>A r.(?) p.(Arg1240Gln) - Unknown - pathogenic g.76901153G>A - c.3719G>A - MYO7A_000033 - PubMed: Colombo-2020 - rs111033178 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+?/. 29 c.3719G>A r.(?) p.(Arg1240Gln) - Parent #2 - likely pathogenic (recessive) g.76901153G>A - c.3719G>A - MYO7A_000033 - PubMed: Khateb 2020 - - Germline - - - - - DNA ? - - retinal disease 1744338 PubMed: Khateb 2020 One affected sister M - - - - - - - 1 LOVD
+?/. 29 c.3719G>A r.(?) p.(Arg1240Gln) - Parent #2 - likely pathogenic (recessive) g.76901153G>A - c.3719G>A - MYO7A_000033 - PubMed: Khateb 2020 - - Germline - - - - - DNA ? - - retinal disease 1744335 PubMed: Khateb 2020 One affected brother F - - - - - - - 1 LOVD
+?/. 29 c.3719G>A r.(?) p.(Arg1240Gln) - Parent #1 - likely pathogenic (recessive) g.76901153G>A - c.3719G>A - MYO7A_000033 - PubMed: Khateb 2020 - - Germline - - - - - DNA ? - - retinal disease CIC04820 PubMed: Khateb 2020 simplex case M - - French - - - - 1 LOVD
+?/. 29 c.3719G>A r.(?) p.(Arg1240Gln) - Both (homozygous) - likely pathogenic (recessive) g.76901153G>A - c.3719G>A p.Arg1240Gln - MYO7A_000033 - PubMed: Khateb 2020 - - Germline - - - - - DNA ? - - retinal disease CIC03079 PubMed: Khateb 2020 simplex case F - - Portuguese - - - - 1 LOVD
+?/. 29 c.3719G>A r.(?) p.(Arg1240Gln) - Both (homozygous) ACMG likely pathogenic (recessive) g.76901153G>A g.77190108G>A - - MYO7A_000033 - PubMed: Mei 2021 - - Germline yes - - - - DNA SEQ, PCR, SEQ-NG blood - deafness PK-DD-RP-01PatIV4 PubMed: Mei 2021 4-generation family, affected sister/brother (F, M), unaffected heterozygous carrier parents F yes Pakistan Rajanpur - - - - 2 LOVD
+/. 29 c.3719G>A r.(?) p.(Arg1240Gln) - Parent #1 - pathogenic g.76901153G>A - c.3719G>A - MYO7A_000033 - PubMed: Galbis-Martinez-2021 - - Germline - - - - - DNA ? - - retinal disease - PubMed: Galbis-Martinez-2021 - - - - - - - - - 4 LOVD
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