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.

94 entries on 1 page. Showing entries 1 - 94.
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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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-/. - c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C MYO7A(NM_000260.4):c.47T>C (p.L16S) - MYO7A_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C MYO7A(NM_000260.4):c.47T>C (p.L16S) - MYO7A_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous; non causative PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong 2014 Proband M - China - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous; non causative PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong 2014 Proband M - China - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous; non causative PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong 2014 Proband F - China - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous; non causative PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong 2014 Proband F - China - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous; non causative PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Rong 2014 Proband - variants found in samples of two affected brothers. They carry the same causative mutations in MYO7A, but other variants cannot be discriminated from the publication. M - China - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Besnard, Garcia-Garcia 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Besnard, Garcia-Garcia 2014 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous; Neutral PubMed: Le Quesne Stabej 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous; Neutral PubMed: Le Quesne Stabej 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - Morocco - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - Morocco - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA minigene, SEQ - - USH1B ? PubMed: Roux 2006 Proband M - Algeria - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Blanchet 2007; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Blanchet 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - Algeria - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - Senegal - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2006 Proband M - Senegal - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? - Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? - Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Parent #1 - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA minigene, SEQ - - USH1B ? PubMed: Roux 2006 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA minigene, SEQ - - USH1B ? PubMed: Roux 2006 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - - north Africa - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - - north Africa - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Le Guédard-Méreuze 2010; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA minigene, SEQ - - USH1B ? PubMed: Le Guédard-Méreuze 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA minigene, SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - Pakistan - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - Pakistan - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Gerber 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Gerber 2006 Proband - - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Gerber 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Gerber 2006 Proband - - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Najera 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Najera 2002 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Najera 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Najera 2002 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Jaijo 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Jaijo 2006 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Cuevas 1999; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA minigene, RT-PCR, SEQ - - USH1B ? PubMed: Cuevas 1999 Proband - Minigene and Nasal cell studies in Aparisi et al., 2013 M - Spain - - - - - 1 Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Cuevas 1999; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA minigene, RT-PCR, SEQ - - USH1B ? PubMed: Cuevas 1999 Proband - Minigene and Nasal cell studies in Aparisi et al., 2013 M - Spain - - - - - 1 Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Jaijo 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA minigene, RT-PCR, SEQ - - USH1B ? PubMed: Jaijo 2006 Proband - Minigene and Nasal cell studies in Aparisi et al., 2013 M - Spain - - - - - 1 Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Jaijo 2007; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Jaijo 2007 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Jaijo 2007; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Jaijo 2007 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Jaijo 2007; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Jaijo 2007 Proband F - Italy - - - - - 1 Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Jaijo 2007; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Jaijo 2007 Proband M - Morocco - - - - - 1 Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Jaijo 2007; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Jaijo 2007 Proband M - Morocco - - - - - 1 Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Najera 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Najera 2002 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Najera 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Najera 2002 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Najera 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Najera 2002 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Najera 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Najera 2002 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Jaijo 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA minigene, SEQ - - USH1B ? PubMed: Jaijo 2006 Relative F - Spain - - - - - 1 Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Cuevas 1998; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Cuevas 1998 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Cuevas 1998; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Cuevas 1998 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Najera 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Najera 2002 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Najera 2002; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Najera 2002 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Jaijo 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Jaijo 2006 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Jaijo 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Jaijo 2006 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Jaijo 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA minigene, SEQ - - USH1B ? PubMed: Jaijo 2006 Proband - Minigene studies in Aparisi et al., 2013 M - Spain - - - - - 1 Jose Maria Millan
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Parent #2 - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Liu 1997(2); USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Liu 1997(2) Proband - - United Kingdom (Great Britain) - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Parent #2 - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - DFNB ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA minigene, SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA minigene, SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - Portugal - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - Portugal - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Parent #2 - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - ? ? PubMed: Roux 2011 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - ? ? PubMed: Roux 2011 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Besnard, Garcia-Garcia 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Besnard, Garcia-Garcia 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Paternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Maternal (inferred) - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Homozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 3 c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C g.77142737T>C - - MYO7A_000031 Heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1052030 Germline - - +BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; - - DNA SEQ - - USH1B ? PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
-/. - c.47T>C r.(?) p.(Leu16Ser) - Unknown - benign g.76853783T>C - MYO7A(NM_000260.4):c.47T>C (p.L16S) - MYO7A_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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