Full data view for gene USH2A


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_206933.2 transcript reference sequence.

89 entries on 1 page. Showing entries 1 - 89.
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+/. - c.1256G>T r.(?) p.(Cys419Phe) - Unknown - pathogenic g.216497582C>A g.216324240C>A USH2A(NM_206933.2):c.1256G>T (p.C419F), USH2A(NM_206933.4):c.1256G>T (p.C419F) - USH2A_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1256G>T r.(?) p.(Cys419Phe) - Unknown - pathogenic g.216497582C>A g.216324240C>A USH2A(NM_206933.2):c.1256G>T (p.C419F), USH2A(NM_206933.4):c.1256G>T (p.C419F) - USH2A_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Unknown - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Besnard, Garcia-Garcia 2014, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Besnard, Garcia-Garcia 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Unknown - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - 0/878 controls +ApoI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Paternal (inferred) - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - 0/878 controls +ApoI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Maternal (confirmed) - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - 0/878 controls +ApoI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Paternal (confirmed) - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - 0/878 controls +ApoI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Paternal (inferred) - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Homozygous; Pathogenic PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - 0/878 controls +ApoI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Maternal (inferred) - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Homozygous; Pathogenic PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - 0/878 controls +ApoI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Unknown - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - 0/878 controls +ApoI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Unknown - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Pennings 2004, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Unknown - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Pennings 2004, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Pennings 2004 Relative - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Unknown - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Pennings 2004, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Pennings 2004, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Pennings 2004, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Unknown - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Pennings 2004, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Unknown - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Pennings 2004, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Pennings 2004, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Unknown - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Pennings 2004, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Pennings 2004 Relative - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Pennings 2004, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Pennings 2004 Relative - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Paternal (inferred) - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Homozygous PubMed: Pennings 2004, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/? 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Maternal (inferred) - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Homozygous PubMed: Pennings 2004, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Parent #2 - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Pennings 2004, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Unknown - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Pennings 2004, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Pennings 2004, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Pennings 2004, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Pennings 2004 Relative - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Pennings 2004, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Unknown - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Pennings 2004, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Parent #2 - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Weston 2000, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - 0/190 controls +ApoI - - DNA SEQ - - USH2 - PubMed: Weston 2000 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Parent #2 - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Weston 2000, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - 0/190 controls +ApoI - - DNA SEQ - - USH2 - PubMed: Weston 2000 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Weston 2000, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - 0/190 controls +ApoI - - DNA SEQ - - USH2 - PubMed: Weston 2000 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Weston 2000, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - 0/190 controls +ApoI - - DNA SEQ - - USH2 - PubMed: Weston 2000 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Weston 2000, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - 0/190 controls +ApoI - - DNA SEQ - - USH2 - PubMed: Weston 2000 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Paternal (inferred) - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Homozygous PubMed: Pennings 2004(2), USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Pennings 2004(2) Proband M - Netherlands - - - - - 1 Anne-Françoise Roux
+/? 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Maternal (inferred) - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Homozygous PubMed: Pennings 2004(2), USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Pennings 2004(2) Proband M - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Parent #2 - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Pennings 2004(2), USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Pennings 2004(2) Proband M - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Parent #2 - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Pennings 2004(2), USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Pennings 2004(2) Proband F - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Parent #2 - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Pennings 2004(2), USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Pennings 2004(2) Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Van Wijk 2004, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Van Wijk 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Van Wijk 2004, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Van Wijk 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Unknown - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Pennings 2004(2), USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Pennings 2004(2) Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Unknown - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Pennings 2004(2), USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Pennings 2004(2) Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Unknown - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Pennings 2004(2), USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Pennings 2004(2) Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Unknown - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Pennings 2004(2), USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Pennings 2004(2) Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Leijendeckers 2009, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Leijendeckers 2009 Proband F - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Unknown - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Pennings 2004, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Pennings 2004 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Unknown - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Seyedahmadi 2004, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - 0/380 controls +ApoI - - DNA SEQ - - USH2 - PubMed: Seyedahmadi 2004 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Unknown - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Paternal (inferred) - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Unknown - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Paternal (confirmed) - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Unknown - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - - - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Sandberg 2008, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - ? - PubMed: Sandberg 2008 Proband - USH2 or ARRP - - United States - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Unknown - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Sandberg 2008, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - ? - PubMed: Sandberg 2008 Proband - USH2 or ARRP - - United States - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Unknown - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Sandberg 2008, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - ? - PubMed: Sandberg 2008 Proband - USH2 or ARRP - - United States - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous; likely Pathogenic PubMed: Neveling 2012, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Neveling 2012 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Paternal (confirmed) - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Unknown - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous; causative PubMed: Eisenberger 2013, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Eisenberger 2013 Proband M - Germany - - - - - 1 Anne-Françoise Roux
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Unknown - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Lenassi 2015, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Lenassi 2015 Proband - - Canada - - - - - 1 Eva Lenassi
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Unknown - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Lenassi 2015, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - RPar - PubMed: Lenassi 2015 Relative - - Canada - - - - - 1 Eva Lenassi
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Unknown - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Lenassi 2015, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - +ApoI - - DNA SEQ - - USH2 - PubMed: Lenassi 2015 Proband - - Canada - - - - - 1 Eva Lenassi
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Germany - - - - - 1 Crystel Bonnet
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/+ 7 c.1256G>T r.(?) p.(Cys419Phe) Laminin N-terminal (271-517) Parent #1 - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 Heterozygous PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - rs121912600 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/. - c.1256G>T r.(?) p.(Cys419Phe) - Unknown - pathogenic g.216497582C>A g.216324240C>A USH2A(NM_206933.2):c.1256G>T (p.C419F), USH2A(NM_206933.4):c.1256G>T (p.C419F) - USH2A_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1256G>T r.(?) p.(Cys419Phe) - Parent #1 - pathogenic (recessive) g.216497582C>A - - - USH2A_000154 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES HL HL010 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - - - - 1 Johan den Dunnen
+?/. - c.1256G>T r.(?) p.(Cys419Phe) - Unknown - likely pathogenic (recessive) g.216497582C>A - 1:216497582C>A ENST00000307340.3:c.1256G>T (Cys419Phe) - USH2A_000154 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease W000193 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.1256G>T r.(?) p.(Cys419Phe) - Parent #1 - pathogenic (recessive) g.216497582C>A g.216324240C>A 2029C>T (Cys419Phe) - USH2A_000154 - PubMed: Jones 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FAM1-2334 PubMed: Jones 2017 4-generation family, 4 affected (F, 3M) F - United States - - - - - 4 LOVD
+/. - c.1256G>T r.(?) p.(Cys419Phe) - Parent #1 - pathogenic (recessive) g.216497582C>A g.216324240C>A 2029C>T (Cys419Phe) - USH2A_000154 - PubMed: Jones 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel Healthy/Control FAM1-5908 PubMed: Jones 2017 relative F - United States - - - - - 1 LOVD
+?/. - c.1256G>T r.(?) p.(Cys419Phe) - Parent #1 - likely pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 571 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.1256G>T r.(?) p.(Cys419Phe) - Parent #2 - likely pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 87 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.1256G>T r.(?) p.(Cys419Phe) - Parent #2 - likely pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 563 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+/. - c.1256G>T r.(?) p.(Cys419Phe) - Unknown - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 3327 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+/. - c.1256G>T r.(?) p.(Cys419Phe) - Parent #2 - pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 7434 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+/. 7 c.1256G>T r.(1256g>u) p.(Cys419Phe) - Parent #1 ACMG pathogenic g.216497582C>A g.216324240C>A - - USH2A_000154 - Journal: Reurink 2021 - - Germline yes - - - - DNA SEQ-NG - gene panel retinal disease W02-125 Journal: Reurink 2021 - - - Netherlands - - - - - 1 Janine Reurink
+/. 7 c.1256G>T r.(?) p.(Cys419Phe) - Unknown - pathogenic g.216497582C>A - c.1256G>T - USH2A_000154 - PubMed: Eisenberger-2013 - rs121912600 Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - M no Germany - - - - - 1 LOVD
+/. - c.1256G>T r.(?) p.(Cys419Phe) - Unknown ACMG pathogenic g.216497582C>A g.216324240C>A CNGB1 c.2166+1G>A, p.(?), c.2957A>T, p.(Asn986Ile), USH2A c.1256G>T, p.(Cys419Phe) - USH2A_000154 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 85 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.1256G>T r.(?) p.(Cys419Phe) - Unknown - pathogenic g.216497582C>A g.216324240C>A c.1256G>T, p.Cys419Phe - USH2A_000154 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI663_001340 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.1256G>T r.(?) p.(Cys419Phe) - Paternal (confirmed) ACMG likely pathogenic g.216497582C>A - - - USH2A_000154 - PubMed: Mansard et al, 2021 - rs121912600 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+?/. 7 c.1256G>T r.(?) p.(Cys419Phe) - Unknown - likely pathogenic g.216497582C>A - c.1256G>T - USH2A_000154 - PubMed: Booij-2011 - - Germline - - - - - DNA arraySEQ Blood - retinal disease - PubMed: Booij-2011 - - - - - - - - - 1 LOVD
+/. 7 c.1256G>T r.(?) p.(Cys419Phe) - Unknown - pathogenic g.216497582C>A - c.1256G>T - USH2A_000154 - PubMed: Colombo-2020 - rs121912600 Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+/. - c.1256G>T r.(?) p.(Cys419Phe) - Parent #2 - pathogenic g.216497582C>A g.216324240C>A USH2A allele 1: Exon 22-47 deletion, genomic coordinates not determined, allele 2: p.Cys419Phe - USH2A_000154 - PubMed: Austin-Tse 2018 SCV000065420 - Germline yes - - - - DNA SEQ-NG-I, MLPA - sequenced by dideoxy sequencing or hearing loss gene panel by either microarray-based resequencing or oligonucleotide-based target capture followed by next generation sequencing using Illumina HiSeq2000 or MiSeq instrument USH D-9 PubMed: Austin-Tse 2018 Discovery Cohort ? - United States - - - - - 1 LOVD
+?/. - c.1256G>T r.(?) p.(Cys419Phe) - Parent #2 - likely pathogenic g.216497582C>A g.216324240C>A USH2A c.1256G>T, p.(Cys419Phe) - USH2A_000154 heterozygous PubMed: Molina-Ramirez 2020 - - Unknown ? - - - - DNA SEQ-NG-I - 14 patients: 105-gene panel, 13 samples: 176-gene panel using previously described method (O', Sullivan J et al. 2012) USH 10004715 PubMed: Molina-Ramirez 2020 - M - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.1256G>T r.(?) p.(Cys419Phe) - Parent #1 - likely pathogenic g.216497582C>A g.216324240C>A USH2A c.1256G>T - USH2A_000154 protein variant annotation not written; heterozygous PubMed: Toms 2020 - - Unknown ? - - - - ? ? - retrospective cohort retinal disease 31 PubMed: Toms 2020 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.1256G>T r.(?) p.(Cys419Phe) - Parent #2 - likely pathogenic g.216497582C>A g.216324240C>A USH2A c.1256G>T - USH2A_000154 protein variant annotation not written; heterozygous PubMed: Toms 2020 - - Unknown ? - - - - ? ? - retrospective cohort retinal disease 4 PubMed: Toms 2020 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.1256G>T r.(?) p.(Cys419Phe) - Parent #2 - likely pathogenic g.216497582C>A g.216324240C>A USH2A c.1256G>T - USH2A_000154 protein variant annotation not written; heterozygous PubMed: Toms 2020 - - Unknown ? - - - - ? ? - retrospective cohort retinal disease 47 PubMed: Toms 2020 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.1256G>T r.(?) p.(Cys419Phe) - Parent #1 ACMG pathogenic g.216497582C>A g.216324240C>A USH2A c.1256G>T, p.(Cys419Phe) - USH2A_000154 heterozygous PubMed: Reurink 2021 - - Germline yes - - - - DNA SEQ-NG-I - molecular inversion probe-based sequencing retinal disease W02-125 PubMed: Reurink 2021 genetically unexplained subjects from centers in the Netherlands, Ireland and Poland ? - Netherlands - - - - - 1 LOVD
+?/. 7 c.1256G>T r.(?) p.(Cys419Phe) - Parent #1 - likely pathogenic g.216497582C>A - c.1256G>T - USH2A_000154 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
?/. - c.1256G>T r.(?) p.(Cys419Phe) - Unknown ACMG VUS g.216497582C>A g.216324240C>A - - USH2A_000154 ACMG GN005 criteria: PS4_S PP1_P PubMed: Lenassi, E. et al., 2015; PubMed: Molina-Ramirez, L. P. et al., 2020; PubMed: Reurink, J. et al., 2021; PubMed: Bonnet, C. et al., 2016; PubMed: Le Quesne Stabej, P. et al., 2012; PubMed: Pennings, R. J. et al., 2004; PubMed: Colombo, L. et al., 2022 - rs121912600 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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