All variants in the USH2A gene


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.

324 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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     

Owner     
-/. - c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T USH2A(NM_206933.2):c.373G>A (p.A125T) - USH2A_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T USH2A(NM_206933.2):c.373G>A (p.A125T) - USH2A_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous; non causative PubMed: Rong 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous; non causative PubMed: Rong 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous; non causative PubMed: Rong 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous; non causative PubMed: Rong 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous; non causative PubMed: Rong 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous PubMed: Besnard, Garcia-Garcia 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Jose Maria Millan
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous PubMed: Adato 2000, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous PubMed: Adato 2000, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Jose Maria Millan
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Jose Maria Millan
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous; Neutral PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Jose Maria Millan
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous; Neutral PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Jose Maria Millan
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Vaché 2010, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Vaché 2010, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V 0 - Anne-Françoise Roux
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