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.

22 entries on 1 page. Showing entries 1 - 22.
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Effect     

Exon     

AscendingDNA change (cDNA)     

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Protein     

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DNA change (hg38)     

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Reference     

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Disease     

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-/. - c.6713A>C r.(?) p.(Glu2238Ala) - Unknown - benign g.216166454T>G g.215993112T>G USH2A(NM_206933.2):c.6713A>C (p.E2238A) - USH2A_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 35 c.6713A>C r.(?) p.(Glu2238Ala) - Unknown - benign g.216166454T>G g.215993112T>G - - USH2A_000062 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs41277212 Germline - 4/89 controls +HgaI;+AciI;-MnlI; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 35 c.6713A>C r.(?) p.(Glu2238Ala) - Unknown - benign g.216166454T>G g.215993112T>G - - USH2A_000062 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs41277212 Germline - 4/89 controls +HgaI;+AciI;-MnlI; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 35 c.6713A>C r.(?) p.(Glu2238Ala) - Parent #1 - benign g.216166454T>G g.215993112T>G - - USH2A_000062 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs41277212 Germline - - +HgaI;+AciI;-MnlI; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 35 c.6713A>C r.(?) p.(Glu2238Ala) - Unknown - benign g.216166454T>G g.215993112T>G - - USH2A_000062 Heterozygous PubMed: Baux 2007, USMA missense analysis, missense variant in MSV3d - rs41277212 Germline - - +HgaI;+AciI;-MnlI; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband F - Italy - - - - - 1 Anne-Françoise Roux
-/- 35 c.6713A>C r.(?) p.(Glu2238Ala) - Parent #1 - benign g.216166454T>G g.215993112T>G - - USH2A_000062 Heterozygous USMA missense analysis, missense variant in MSV3d - rs41277212 Germline - - +HgaI;+AciI;-MnlI; - - DNA SEQ - - USH2 - - Relative F - Italy - - - - - 1 Anne-Françoise Roux
-/- 35 c.6713A>C r.(?) p.(Glu2238Ala) - Unknown - benign g.216166454T>G g.215993112T>G - - USH2A_000062 Heterozygous PubMed: Najera 2002, USMA missense analysis, missense variant in MSV3d - rs41277212 Germline - - +HgaI;+AciI;-MnlI; - - DNA SEQ - - USH2 - PubMed: Najera 2002 Proband - - Spain - - - - - 1 Jose Maria Millan
-/- 35 c.6713A>C r.(?) p.(Glu2238Ala) - Unknown - benign g.216166454T>G g.215993112T>G - - USH2A_000062 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41277212 Germline - - +HgaI;+AciI;-MnlI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 35 c.6713A>C r.(?) p.(Glu2238Ala) - Unknown - benign g.216166454T>G g.215993112T>G - - USH2A_000062 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - rs41277212 Germline - - +HgaI;+AciI;-MnlI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 35 c.6713A>C r.(?) p.(Glu2238Ala) - Unknown - benign g.216166454T>G g.215993112T>G - - USH2A_000062 Heterozygous; unknown PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs41277212 Germline - - +HgaI;+AciI;-MnlI; - - DNA SEQ - - USH2 - PubMed: McGee 2010 Proband - No genotype in the publication - - United States - - - - - 3 Anne-Françoise Roux
-/- 35 c.6713A>C r.(?) p.(Glu2238Ala) - Unknown - benign g.216166454T>G g.215993112T>G - - USH2A_000062 Heterozygous; unknown PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - rs41277212 Germline - - +HgaI;+AciI;-MnlI; - - DNA SEQ - - RPar - PubMed: McGee 2010 Proband - No genotype in the publication - - United States - - - - - 1 Anne-Françoise Roux
-/- 35 c.6713A>C r.(?) p.(Glu2238Ala) - Unknown - benign g.216166454T>G g.215993112T>G - - USH2A_000062 Heterozygous; Neutral PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - rs41277212 Germline - 4/89 controls +HgaI;+AciI;-MnlI; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 35 c.6713A>C r.(?) p.(Glu2238Ala) - Unknown - benign g.216166454T>G g.215993112T>G - - USH2A_000062 Heterozygous; unclear PubMed: Glöckle 2014, USMA missense analysis, missense variant in MSV3d - rs41277212 Germline - - +HgaI;+AciI;-MnlI; - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Glöckle 2014 Proband - - - - - - - - 1 Anne-Françoise Roux
-/. - c.6713A>C r.(?) p.(Glu2238Ala) - Unknown - benign g.216166454T>G g.215993112T>G USH2A(NM_206933.2):c.6713A>C (p.E2238A) - USH2A_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.6713A>C r.(?) p.(Glu2238Ala) - Parent #1 - benign g.216166454T>G g.215993112T>G - - USH2A_000062 94 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41277212 Germline - 94/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 94 Mohammed Faruq
+?/. - c.6713A>C r.(?) p.(Glu2238Ala) - Parent #2 - likely pathogenic (recessive) g.216166454T>G g.215993112T>G - - USH2A_000062 - PubMed: Bryant 2018 - rs41277212 Germline - - - - - DNA SEQ-NG - WES retinal disease JB49 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
?/. - c.6713A>C r.(?) p.(Glu2238Ala) - Parent #1 - VUS g.216166454T>G g.215993112T>G - - USH2A_000062 - PubMed: Bryant 2018 - rs41277212 Germline - - - - - DNA SEQ-NG - WES retinal disease JB40 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
+?/. - c.6713A>C r.(?) p.(Glu2238Ala) - Parent #1 - likely pathogenic g.216166454T>G g.215993112T>G USH2A, variant 1: c.6713A>C/p.E2238A, variant 2: c.7301-1G>A/p.? - USH2A_000062 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET1 targeted sequencing panel - see paper retinal disease 517 PubMed: Weisschuh 2020 Filing key number: 172, Usher syndrome type 2, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
?/. 35 c.6713A>C r.(?) p.(Glu2238Ala) - Unknown - VUS g.216166454T>G - c.6713A>C - USH2A_000062 - PubMed: Colombo-2020 - rs41277212 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
?/. 35 c.6713A>C r.(?) p.(Glu2238Ala) - Unknown - VUS g.216166454T>G - c.6713A>C - USH2A_000062 - PubMed: Colombo-2020 - rs41277212 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+?/. 35 c.6713A>C r.(?) p.(Glu2238Ala) - Parent #1 ACMG likely pathogenic g.216166454T>G g.215993112T>G USH2A c.6713A>C, p.E2238A - USH2A_000062 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease AXLM_12 PubMed: Zhu 2021 family 41, patient AXLM_12 F - China - - - - - 1 LOVD
-/. - c.6713A>C r.(?) p.(Glu2238Ala) - Unknown ACMG benign g.216166454T>G g.215993112T>G - - USH2A_000062 ACMG GN005 criteria: BA1 BS2_S PubMed: Glockle, N. et al., 2014; PubMed: Colombo, L. et al., 2022; PubMed: Colombo, L. et al., 2021; PubMed: Colombo, L. et al., 2021 - rs41277212 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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