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.

324 entries on 4 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.373G>A r.(?) p.(Ala125Thr) - Unknown - benign g.216595306C>T g.216421964C>T USH2A(NM_206933.4):c.373G>A (p.A125T) - USH2A_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.373G>A r.(?) p.(Ala125Thr) - Unknown - benign g.216595306C>T g.216421964C>T USH2A(NM_206933.4):c.373G>A (p.A125T) - USH2A_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - 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 - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong 2014 Proband M - China - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - 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 - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong 2014 Proband M - China - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Unknown - 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 - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong 2014 Proband F - China - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - 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 - - 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
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - 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 - - 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
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Unknown - 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 - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Besnard, Garcia-Garcia 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Unknown - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Aparisi 2014 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Unknown - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - Italy - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - Italy - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Unknown - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA minigene, SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA minigene, SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - Italy - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - Italy - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Unknown - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - Romania - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - Romania - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Unknown - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA minigene, SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Unknown - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Unknown - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Unknown - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Unknown - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Unknown - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - RPar - - Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Unknown - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - RPar - - Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Unknown - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous PubMed: Adato 2000, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Adato 2000 Proband - - Iceland - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Unknown - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous PubMed: Adato 2000, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Adato 2000 Proband - - Iceland - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Unknown - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous; Neutral PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Unknown - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous; Neutral PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA minigene, SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Unknown - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Unknown - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Vaché 2010, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA, RNA RT-PCR, SEQ - - USH2 - PubMed: Vaché 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Vaché 2010, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA, RNA RT-PCR, SEQ - - USH2 - PubMed: Vaché 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Italy - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Italy - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Italy - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Italy - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Italy - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Italy - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Unknown - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Italy - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - 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 - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - 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 - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Relative M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Relative M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - 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 - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - 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 - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Unknown - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Heterozygous USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA minigene, SEQ - - USH2 - - Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - 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 - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - 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 - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA minigene, SEQ, SEQ-NG-S - - USH2 - Liquori accepted Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA minigene, SEQ, SEQ-NG-S - - USH2 - Liquori accepted Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - RPar - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - RPar - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - 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 - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - 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 - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Paternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Cameroon - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Maternal (inferred) - benign g.216595306C>T g.216421964C>T - - USH2A_000044 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs10779261 Germline - - -HpyCH4V - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Cameroon - - - - - 1 Anne-Françoise Roux
-/- 2 c.373G>A r.(?) p.(Ala125Thr) - Unknown - 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 - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband F - France - - - - - 1 Anne-Françoise Roux
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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