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.

178 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     

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Frequency     

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VIP     

Methylation     

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Disease     

ID_report     

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Panel size     

Owner     
+/. 22 c.[2299delG;4714C>T] r.(?) p.[(Glu767Serfs*21);(Leu1572Phe)] - Both (homozygous) - pathogenic g.216270469G>A - c.[2299delG;4714C>T] - USH2A_000038 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
-?/. - c.4714C>T r.(?) p.(Leu1572Phe) - Unknown - likely benign g.216270469G>A g.216097127G>A USH2A(NM_206933.2):c.4714C>T (p.L1572F), USH2A(NM_206933.4):c.4714C>T (p.L1572F) - USH2A_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Besnard, Garcia-Garcia 2014, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Besnard, Garcia-Garcia 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Paternal (inferred) - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Homozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Maternal (inferred) - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Homozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Paternal (inferred) - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Homozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Maternal (inferred) - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Homozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Paternal (inferred) - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Homozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Maternal (inferred) - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Homozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Paternal (inferred) - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Homozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Maternal (inferred) - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Homozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Aparisi 2014 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Parent #2 - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Parent #2 - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Parent #1 - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Parent #2 - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - Italy - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Parent #2 - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - - Relative F - Italy - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Hemizygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - Romania - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Parent #1 - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Parent #2 - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Paternal (inferred) - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Maternal (inferred) - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Parent #1 - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Aller 2004, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Aller 2004 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Aller 2006, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Aller 2006 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband - - Spain - - - - - 1 Jose Maria Millan
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband - - Spain - - - - - 1 Jose Maria Millan
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband - - Spain - - - - - 1 Jose Maria Millan
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband - - Spain - - - - - 1 Jose Maria Millan
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Paternal (confirmed) - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Maternal (confirmed) - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA minigene, SEQ, SEQ-NG-S - - USH2 - Liquori accepted Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Italy - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Paternal (confirmed) - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - - - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Denmark - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Paternal (inferred) - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Homozygous; linkage disequilibrium with c.2299delG; polymorphism PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: McGee 2010 Proband - No genotype in the publication for polymorphisms - - United States - - - - - 2 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Maternal (inferred) - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Homozygous; linkage disequilibrium with c.2299delG; polymorphism PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: McGee 2010 Proband - No genotype in the publication for polymorphisms - - United States - - - - - 2 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Homozygous; linkage disequilibrium with c.2299delG; polymorphism PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: McGee 2010 Proband - No genotype in the publication for polymorphisms - - United States - - - - - 38 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Vaché 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband - - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Algeria - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Paternal (inferred) - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France FRANCE - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Maternal (inferred) - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France FRANCE - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Vaché 2012, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 22 c.4714C>T r.(?) p.(Leu1572Phe) Laminin G-like 1 (1517-1709) Unknown - benign g.216270469G>A g.216097127G>A - - USH2A_000038 Heterozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs111033333 Germline - - -AcuI - - DNA SEQ - - USH - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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