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.

82 entries on 1 page. Showing entries 1 - 82.
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-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous; non causative PubMed: Rong 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - 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
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Besnard, Garcia-Garcia 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Besnard, Garcia-Garcia 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Besnard, Garcia-Garcia 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Besnard, Garcia-Garcia 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Aparisi 2014 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Paternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Maternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous; Neutral PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ, SSCA - - USH2 - PubMed: Jaijo 2010 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous; Neutral PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous; Neutral PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA minigene, SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Paternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Maternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Paternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Maternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Italy - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Italy - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Italy - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Relative M - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA minigene, SEQ - - USH2 - - Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Paternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA minigene, SEQ - - RPar - PubMed: Le Guédard-Méreuze 2010 Proband F - Iran - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Maternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA minigene, SEQ - - RPar - PubMed: Le Guédard-Méreuze 2010 Proband F - Iran - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA, RNA RT-PCR, SEQ - - USH2 - - Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - - - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Maternal (confirmed) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Italy - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Paternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Italy - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Maternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Italy - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Paternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Maternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Paternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous; benign PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: McGee 2010 Proband - No genotype in the publication - - United States - - - - - 5 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Maternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous; benign PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: McGee 2010 Proband - No genotype in the publication - - United States - - - - - 5 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous; benign PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: McGee 2010 Proband - No genotype in the publication - - United States - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Paternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous; benign PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - RPar - PubMed: McGee 2010 Proband - No genotype in the publication - - United States - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Maternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous; benign PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - RPar - PubMed: McGee 2010 Proband - No genotype in the publication - - United States - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous; benign PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - RPar - PubMed: McGee 2010 Proband - No genotype in the publication - - United States - - - - - 2 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Paternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Maternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ, SSCA - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA arrayCGH, MLPA, SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Paternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Maternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Paternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA minigene, SEQ, SEQ-NG-S - - USH2 - Liquori accepted Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Maternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA minigene, SEQ, SEQ-NG-S - - USH2 - Liquori accepted Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA minigene, SEQ - - USH2 - PubMed: Baux 2014 Proband M - Portugal - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA minigene, SEQ, SEQ-NG-S - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Paternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Maternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Paternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Maternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Paternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Italy - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Maternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Italy - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Paternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Morocco - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Maternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Morocco - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Paternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous PubMed: Besnard, Garcia-Garcia 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ, SEQ-NG-S - - USH - PubMed: Besnard, Garcia-Garcia 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Maternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous PubMed: Besnard, Garcia-Garcia 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ, SEQ-NG-S - - USH - PubMed: Besnard, Garcia-Garcia 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Paternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous PubMed: Besnard, Garcia-Garcia 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Besnard, Garcia-Garcia 2014 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Maternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous PubMed: Besnard, Garcia-Garcia 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Besnard, Garcia-Garcia 2014 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Paternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Maternal (inferred) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 59 c.11504C>T r.(?) p.(Thr3835Ile) Fibronectin type-III 23 (3768-3862) Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs11120616 Germline - - +TfiI;-PleI;-MlyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/. - c.11504C>T r.(?) p.(Thr3835Ile) - Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs11120616 Germline - 311/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 311 Yoshito Koyanagi
-/. - c.11504C>T r.(?) p.(Thr3835Ile) - Both (homozygous) - benign g.215916563G>A g.215743221G>A - - USH2A_000094 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs11120616 Germline - 34/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 34 Yoshito Koyanagi
-/. - c.11504C>T r.(?) p.(Thr3835Ile) - Unknown - benign g.215916563G>A g.215743221G>A - - USH2A_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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