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.

72 entries on 1 page. Showing entries 1 - 72.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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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.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs6689120 Germline - 82/872 controls +HpyCH4IV - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs6689120 Germline - 82/872 controls +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs6689120 Germline - 82/872 controls +HpyCH4IV - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 36i c.6957+19A>G r.(=) p.(=) - Paternal (inferred) - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Homozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs6689120 Germline - 82/872 controls +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 36i c.6957+19A>G r.(=) p.(=) - Maternal (inferred) - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Homozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs6689120 Germline - 82/872 controls +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs6689120 Germline - 82/872 controls +HpyCH4IV - - DNA SEQ - - USH - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs6689120 Germline - 82/872 controls +HpyCH4IV - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs6689120 Germline - 82/872 controls +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs6689120 Germline - 82/872 controls +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs6689120 Germline - 82/872 controls +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs6689120 Germline - 82/872 controls +HpyCH4IV - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs6689120 Germline - 82/872 controls +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs6689120 Germline - 82/872 controls +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 36i c.6957+19A>G r.(=) p.(=) - Paternal (inferred) - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Homozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs6689120 Germline - 82/872 controls +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 36i c.6957+19A>G r.(=) p.(=) - Maternal (inferred) - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Homozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs6689120 Germline - 82/872 controls +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs6689120 Germline - 82/872 controls +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 36i c.6957+19A>G r.(=) p.(=) - Paternal (inferred) - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Homozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs6689120 Germline - 82/872 controls +HpyCH4IV - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 36i c.6957+19A>G r.(=) p.(=) - Maternal (inferred) - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Homozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs6689120 Germline - 82/872 controls +HpyCH4IV - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs6689120 Germline - 82/872 controls +HpyCH4IV - - DNA SEQ - - USH - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs6689120 Germline - 82/872 controls +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs6689120 Germline - 82/872 controls +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Jaijo 2010 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Aparisi 2014 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Baux 2007 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - Italy - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Baux 2007 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Baux 2007 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Baux 2007 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Aller 2004 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - RPar - PubMed: Aller 2004 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Aller 2004 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - RPar - PubMed: Aller 2004 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Najera 2002 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Jaijo 2010 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 36i c.6957+19A>G r.(=) p.(=) - Paternal (inferred) - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Homozygous PubMed: Baux 2014 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Maternal (inferred) - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Homozygous PubMed: Baux 2014 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Vaché 2012 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - Italy - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Baux 2014 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - - - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Baux 2014 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Baux 2014 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous - - rs6689120 Germline - - +HpyCH4IV - - DNA minigene, SEQ, SEQ-NG-S - - USH2 - Liquori accepted Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Baux 2014 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Vaché 2012 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Baux 2014 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Baux 2014 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Garcia-Garcia 2011 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Baux 2014 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012 - rs6689120 Germline - 82/872 controls +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Vaché 2012 - rs6689120 Germline - - +HpyCH4IV - - DNA, RNA RT-PCR, SEQ - - USH2 - PubMed: Vaché 2012 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Vaché 2012 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Vaché 2012 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Vaché 2012 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Vaché 2012 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - France - - - - - 1 Jose Maria Millan
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Vaché 2012 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Garcia-Garcia 2011 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Garcia-Garcia 2011 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Garcia-Garcia 2011 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Garcia-Garcia 2011 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ, SSCA - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Garcia-Garcia 2011 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous - - rs6689120 Germline - - +HpyCH4IV - - DNA minigene, SEQ, SEQ-NG-S - - USH2 - Liquori accepted Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Baux 2014 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Baux 2014 - rs6689120 Germline - - +HpyCH4IV - - DNA minigene, SEQ - - USH2 - PubMed: Baux 2014 Proband M - Portugal - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Baux 2014 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Baux 2014 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Baux 2014 - rs6689120 Germline - - +HpyCH4IV - - DNA arrayCGH, MLPA, SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Baux 2014 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Paternal (inferred) - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Homozygous PubMed: Baux 2014 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Italy - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Maternal (inferred) - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Homozygous PubMed: Baux 2014 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Italy - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Baux 2014 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Baux 2014 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Baux 2014 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Baux 2014 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Baux 2014 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Baux 2014 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 36i c.6957+19A>G r.(=) p.(=) - Unknown - benign g.216143948T>C g.215970606T>C - - USH2A_000048 Heterozygous PubMed: Baux 2014 - rs6689120 Germline - - +HpyCH4IV - - DNA SEQ - - USH2 - PubMed: Baux 2014 - 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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