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.

106 entries on 2 pages. Showing entries 1 - 100.
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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     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.4994T>C r.(?) p.(Ile1665Thr) - Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Parent #1 - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - Italy - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Parent #1 - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Paternal (inferred) - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Maternal (inferred) - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - RPar - - Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Aller 2006, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Aller 2006 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous; Neutral PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA minigene, SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Aller 2004, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - RPar - PubMed: Aller 2004 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Aller 2004, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - RPar - PubMed: Aller 2004 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Aller 2004, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - RPar - PubMed: Aller 2004 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Paternal (inferred) - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Homozygous PubMed: Aller 2006, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Aller 2006 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Maternal (inferred) - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Homozygous PubMed: Aller 2006, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Aller 2006 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA minigene, SEQ - - USH2 - PubMed: Najera 2002 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Paternal (inferred) - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Maternal (inferred) - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Maternal (confirmed) - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Paternal (inferred) - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Maternal (inferred) - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Paternal (inferred) - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Spain - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Maternal (inferred) - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Spain - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - RPar - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA minigene, SEQ - - USH2 - PubMed: Baux 2014 Proband F - Austria - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 U608 PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband - - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Paternal (inferred) - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Maternal (inferred) - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Italy - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Paternal (inferred) - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Maternal (inferred) - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Paternal (inferred) - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Maternal (inferred) - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH - PubMed: Garcia-Garcia 2011 Proband - - Spain - - - - - 1 Jose Maria Millan
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Denmark - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Paternal (inferred) - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Homozygous; polymorphism PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: McGee 2010 Proband - No genotype in the publication for polymorphisms - - United States - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Maternal (inferred) - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Homozygous; polymorphism PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: McGee 2010 Proband - No genotype in the publication for polymorphisms - - United States - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous; polymorphism PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: McGee 2010 Proband - No genotype in the publication for polymorphisms - - United States - - - - - 24 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Paternal (inferred) - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Homozygous; polymorphism PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - RPar - PubMed: McGee 2010 Proband - No genotype in the publication for polymorphisms - - United States - - - - - 3 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Maternal (inferred) - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Homozygous; polymorphism PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - RPar - PubMed: McGee 2010 Proband - No genotype in the publication for polymorphisms - - United States - - - - - 3 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous; polymorphism PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - RPar - PubMed: McGee 2010 Proband - No genotype in the publication for polymorphisms - - United States - - - - - 18 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband - - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Vaché 2012, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA, RNA RT-PCR, SEQ - - USH2 - PubMed: Vaché 2012 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Vaché 2012, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Vaché 2012, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Paternal (inferred) - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Homozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Maternal (inferred) - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Homozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ, SSCA - - USH2 - PubMed: Garcia-Garcia 2011 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ, SSCA - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA arrayCGH, SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Portugal - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA minigene, SEQ - - USH2 - PubMed: Baux 2014 Proband M - Portugal - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Paternal (inferred) - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Maternal (inferred) - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA minigene, SEQ, SEQ-NG-S - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Paternal (inferred) - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Maternal (inferred) - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Paternal (inferred) - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Italy - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Maternal (inferred) - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Italy - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA arrayCGH, SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA arrayCGH, SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Paternal (confirmed) - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous; potential PubMed: Vastinsalo 2012, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - 11.1% (150 controls) none - - DNA PE, SEQ - APEX USH2 - PubMed: Vastinsalo 2012 Proband F - Finland - - - - - 1 Anne-Françoise Roux
-/- 25 c.4994T>C r.(?) p.(Ile1665Thr) Laminin G-like 1 (1517-1709) Unknown - benign g.216258213A>G g.216084871A>G - - USH2A_000036 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs56222536 Germline - - none - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Baux 2014 Proband - unclear USH phenotype M - 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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