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.

96 entries on 1 page. Showing entries 1 - 96.
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AscendingDNA change (cDNA)     

RNA change     

Protein     

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Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Re-site     

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Methylation     

Template     

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Disease     

ID_report     

Reference     

Remarks     

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-/. - c.11602A>G r.(?) p.(Met3868Val) - Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous; non causative PubMed: Rong 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong 2014 Proband M - China - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous; non causative PubMed: Rong 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - 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
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Aparisi 2014 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Parent #1 - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - Italy - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA minigene, SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Paternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Maternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous; Neutral PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ, SSCA - - USH2 - PubMed: Jaijo 2010 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous; Neutral PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous; Neutral PubMed: Jaijo 2010, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA minigene, SEQ - - USH2 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Paternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband - - Spain - - - - - 1 Jose Maria Millan
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Maternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband - - Spain - - - - - 1 Jose Maria Millan
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Paternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA minigene, SEQ - - USH2 - PubMed: Najera 2002 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Maternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA minigene, SEQ - - USH2 - PubMed: Najera 2002 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Paternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Maternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Paternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Maternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Parent #1 - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Vaché 2010, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA, RNA RT-PCR, SEQ - - USH2 - PubMed: Vaché 2010 Relative F - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Parent #1 - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Vaché 2010, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA, RNA RT-PCR, SEQ - - USH2 - PubMed: Vaché 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Italy - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Italy - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Italy - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Relative M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA minigene, SEQ - - USH2 - - Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Paternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA minigene, SEQ - - RPar - PubMed: Le Guédard-Méreuze 2010 Proband F - Iran - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Maternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA minigene, SEQ - - RPar - PubMed: Le Guédard-Méreuze 2010 Proband F - Iran - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA, RNA RT-PCR, SEQ - - USH2 - - Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Paternal (confirmed) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - - - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Le Guédard-Méreuze 2010, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA minigene, SEQ - - USH2 - PubMed: Le Guédard-Méreuze 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Italy - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Paternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Italy - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Maternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Italy - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Paternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Maternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband F - Spain - - - - - 1 Jose Maria Millan
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - Denmark - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Paternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous; polymorphism PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: McGee 2010 Proband - No genotype in the publication for polymorphisms - - United States - - - - - 11 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Maternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous; polymorphism PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: McGee 2010 Proband - No genotype in the publication for polymorphisms - - United States - - - - - 11 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous; polymorphism PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: McGee 2010 Proband - No genotype in the publication for polymorphisms - - United States - - - - - 25 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Paternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous; polymorphism PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - RPar - PubMed: McGee 2010 Proband - No genotype in the publication for polymorphisms - - United States - - - - - 3 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Maternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous; polymorphism PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - RPar - PubMed: McGee 2010 Proband - No genotype in the publication for polymorphisms - - United States - - - - - 3 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous; polymorphism PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - RPar - PubMed: McGee 2010 Proband - No genotype in the publication for polymorphisms - - United States - - - - - 22 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH1 - PubMed: Baux 2014 Proband F - Italy - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Paternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Maternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ, SSCA - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous; Neutral PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA arrayCGH, MLPA, SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Paternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Maternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Paternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA minigene, SEQ, SEQ-NG-S - - USH2 - Liquori accepted Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Maternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA minigene, SEQ, SEQ-NG-S - - USH2 - Liquori accepted Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA minigene, SEQ - - USH2 - PubMed: Baux 2014 Proband M - Portugal - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA minigene, SEQ, SEQ-NG-S - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Paternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Maternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Paternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Maternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Paternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Italy - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Maternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Italy - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Paternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Morocco - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Maternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - Morocco - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Paternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Maternal (inferred) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Homozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 60 c.11602A>G r.(?) p.(Met3868Val) Fibronectin type-III 24 (3863-3960) Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs35309576 Germline - - +BsrI;+BmrI;+TspRI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - - - - - - - 1 Anne-Françoise Roux
-/. - c.11602A>G r.(?) p.(Met3868Val) - Unknown - benign g.215914826T>C g.215741484T>C - - USH2A_000029 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs35309576 Germline - 315/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 315 Yoshito Koyanagi
-/. - c.11602A>G r.(?) p.(Met3868Val) - Both (homozygous) - benign g.215914826T>C g.215741484T>C - - USH2A_000029 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs35309576 Germline - 34/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 34 Yoshito Koyanagi
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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