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.

93 entries on 1 page. Showing entries 1 - 93.
Legend   How to query  

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     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C chr1:g.216371934A>C-c.1258-8A>C in ENST00000307340 - USH2A_000064 Heterozygous; non causative PubMed: Rong 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong 2014 Proband F - China - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C chr1:g.216371934A>C-c.1258-8A>C in ENST00000307340 - USH2A_000064 Heterozygous; non causative PubMed: Rong 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - 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
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Besnard, Garcia-Garcia 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Besnard, Garcia-Garcia 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 17i c.3812-8T>G r.(=) p.(=) - Paternal (inferred) - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Homozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 17i c.3812-8T>G r.(=) p.(=) - Maternal (inferred) - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Homozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 17i c.3812-8T>G r.(=) p.(=) - Paternal (inferred) - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Homozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 17i c.3812-8T>G r.(=) p.(=) - Maternal (inferred) - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Homozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH3 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Homozygous PubMed: Jaijo 2010 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Aparisi 2014 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 17i c.3812-8T>G r.(=) p.(=) - Paternal (inferred) - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Homozygous PubMed: Baux 2007 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Maternal (inferred) - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Homozygous PubMed: Baux 2007 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2007 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA minigene, SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2007 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2007 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - Romania - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2007 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Paternal (inferred) - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Homozygous PubMed: Jaijo 2010 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 17i c.3812-8T>G r.(=) p.(=) - Maternal (inferred) - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Homozygous PubMed: Jaijo 2010 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 17i c.3812-8T>G r.(=) p.(=) - Paternal (inferred) - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Homozygous PubMed: Eudy 1998 - rs646094 Germline - 0/192 controls +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Eudy 1998 Proband - - United States - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Maternal (inferred) - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Homozygous PubMed: Eudy 1998 - rs646094 Germline - 0/192 controls +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Eudy 1998 Proband - - United States - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Paternal (inferred) - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Homozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Maternal (inferred) - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Homozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Paternal (inferred) - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Homozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Algeria - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Maternal (inferred) - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Homozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Algeria - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Spain - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Paternal (inferred) - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Homozygous PubMed: Vaché 2012 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - Italy - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Maternal (inferred) - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Homozygous PubMed: Vaché 2012 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - Italy - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Italy - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Paternal (inferred) - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Homozygous - - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA minigene, SEQ - - USH2 - - Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Maternal (inferred) - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Homozygous - - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA minigene, SEQ - - USH2 - - Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Paternal (inferred) - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Homozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Cameroon - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Maternal (inferred) - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Homozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Cameroon - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Le Guédard-Méreuze 2010 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - - - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Italy - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Homozygous PubMed: Garcia-Garcia 2011 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Vaché 2012 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband - - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Morocco - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Algeria - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Vaché 2012 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Vaché 2012 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Garcia-Garcia 2011 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 17i c.3812-8T>G r.(=) p.(=) - Paternal (inferred) - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Homozygous PubMed: Garcia-Garcia 2011 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 17i c.3812-8T>G r.(=) p.(=) - Maternal (inferred) - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Homozygous PubMed: Garcia-Garcia 2011 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Garcia-Garcia 2011 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Garcia-Garcia 2011 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Garcia-Garcia 2011 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Garcia-Garcia 2011 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Garcia-Garcia 2011 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 RP1638 PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous - - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA minigene, SEQ, SEQ-NG-S - - USH2 - Liquori accepted Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Paternal (inferred) - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Homozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Tunisia - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Maternal (inferred) - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Homozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Tunisia - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Paternal (inferred) - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Homozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Morocco - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Maternal (inferred) - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Homozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Morocco - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA arrayCGH, SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA arrayCGH, SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Paternal (inferred) - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Homozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Tunisia - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Maternal (inferred) - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Homozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Tunisia - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Heterozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 17i c.3812-8T>G r.(=) p.(=) - Unknown - benign g.216371934A>C g.216198592A>C - - USH2A_000064 Homozygous PubMed: Baux 2014 - rs646094 Germline - - +BsmAI;-Tsp509I; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
Legend   How to query  

All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.