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.

66 entries on 1 page. Showing entries 1 - 66.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

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Age at death     

VIP     

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Owner     
-/. - c.1931A>T r.(?) p.(Asp644Val) - Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Parent #1 - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Paternal (inferred) - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Maternal (inferred) - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Paternal (inferred) - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Maternal (inferred) - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Adato 2000, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Adato 2000 Proband - - Iceland - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Adato 2000, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Adato 2000 Proband - - Iceland - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Parent #2 - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Weston 2000, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Weston 2000 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Parent #2 - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Weston 2000, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Weston 2000 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Parent #1 - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Weston 2000, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Weston 2000 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Parent #1 - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Weston 2000, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Weston 2000 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Parent #1 - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Weston 2000, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Weston 2000 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ, SSCA - - USH - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband - - Spain - - - - - 1 Jose Maria Millan
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Paternal (inferred) - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Maternal (inferred) - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA minigene, SEQ - - USH2 - PubMed: Baux 2014 Proband F - Austria - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 U608 PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Denmark - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband - - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Vaché 2012, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA, RNA RT-PCR, SEQ - - USH2 - PubMed: Vaché 2012 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Paternal (inferred) - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Homozygous PubMed: Vaché 2012, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Maternal (inferred) - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Homozygous PubMed: Vaché 2012, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Vaché 2012, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - France - - - - - 1 Jose Maria Millan
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ, SSCA - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA arrayCGH, SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA minigene, SEQ, SEQ-NG-S - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 11 c.1931A>T r.(?) p.(Asp644Val) Laminin EGF-like 3 (641-693) Unknown - benign g.216462662T>A g.216289320T>A - - USH2A_000042 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs1805048 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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