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.

35 entries on 1 page. Showing entries 1 - 35.
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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     

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Owner     
+?/. - c.13316C>T r.(?) p.(Thr4439Ile) - Unknown - likely pathogenic g.215847937G>A g.215674595G>A USH2A(NM_206933.2):c.13316C>T (p.T4439I), USH2A(NM_206933.4):c.13316C>T (p.T4439I) - USH2A_000385 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.13316C>T r.(?) p.(Thr4439Ile) - Unknown - likely pathogenic g.215847937G>A g.215674595G>A USH2A(NM_206933.2):c.13316C>T (p.T4439I), USH2A(NM_206933.4):c.13316C>T (p.T4439I) - USH2A_000385 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 63 c.13316C>T r.(?) p.(Thr4439Ile) Fibronectin type-III 29 (4356-4439) Unknown ACMG VUS g.215847937G>A g.215674595G>A - - USH2A_000385 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - - Germline - 0/878 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+?/? 63 c.13316C>T r.(?) p.(Thr4439Ile) Fibronectin type-III 29 (4356-4439) Unknown ACMG VUS g.215847937G>A g.215674595G>A - - USH2A_000385 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - - Germline - 0/878 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+?/? 63 c.13316C>T r.(?) p.(Thr4439Ile) Fibronectin type-III 29 (4356-4439) Maternal (confirmed) ACMG VUS g.215847937G>A g.215674595G>A - - USH2A_000385 Heterozygous PubMed: Ebermann 2010, USMA missense analysis, missense variant in MSV3d - - Germline - 0/463 controls none - - DNA SEQ - - USH2 - PubMed: Ebermann 2010 Proband - Carries c.1750-2A>G in PDZD7 - heterozygous, 0/200 controls F - - - - - - - 1 Anne-Françoise Roux
+?/? 63 c.13316C>T r.(?) p.(Thr4439Ile) Fibronectin type-III 29 (4356-4439) Unknown ACMG VUS g.215847937G>A g.215674595G>A - - USH2A_000385 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012, USMA missense analysis, missense variant in MSV3d - - Germline - 0/878 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 63 c.13316C>T r.(?) p.(Thr4439Ile) Fibronectin type-III 29 (4356-4439) Paternal (confirmed) ACMG VUS g.215847937G>A g.215674595G>A - - USH2A_000385 Heterozygous PubMed: Baux 2014, USMA missense analysis, missense variant in MSV3d - - Germline - 0/463 controls none - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 63 c.13316C>T r.(?) p.(Thr4439Ile) Fibronectin type-III 29 (4356-4439) Unknown ACMG VUS g.215847937G>A g.215674595G>A - - USH2A_000385 Heterozygous PubMed: Lenassi 2015, USMA missense analysis, missense variant in MSV3d - - Germline - - none - - DNA SEQ - - RPar - PubMed: Lenassi 2015 Proband - - United Kingdom (Great Britain) - - - - - 1 Eva Lenassi
+?/? 63 c.13316C>T r.(?) p.(Thr4439Ile) Fibronectin type-III 29 (4356-4439) Unknown ACMG VUS g.215847937G>A g.215674595G>A - - USH2A_000385 Heterozygous; mutation PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+?/? 63 c.13316C>T r.(?) p.(Thr4439Ile) Fibronectin type-III 29 (4356-4439) Parent #2 ACMG VUS g.215847937G>A g.215674595G>A - - USH2A_000385 Heterozygous; mutation PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+?/? 63 c.13316C>T r.(?) p.(Thr4439Ile) Fibronectin type-III 29 (4356-4439) Parent #2 ACMG VUS g.215847937G>A g.215674595G>A - - USH2A_000385 Heterozygous; mutation PubMed: Bonnet 2016, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - France - - - - - 1 Crystel Bonnet
+?/. - c.13316C>T r.(?) p.(Thr4439Ile) - Unknown - likely pathogenic g.215847937G>A g.215674595G>A USH2A(NM_206933.2):c.13316C>T (p.T4439I), USH2A(NM_206933.4):c.13316C>T (p.T4439I) - USH2A_000385 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.13316C>T r.(?) p.(Thr4439Ile) - Unknown - pathogenic (recessive) g.215847937G>A - 1:215847937G>A ENST00000307340.3:c.13316C>T (Thr4439Ile) - USH2A_000385 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G000991 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.13316C>T r.(?) p.(Thr4439Ile) - Parent #2 - likely pathogenic g.215847937G>A g.215674595G>A - - USH2A_000385 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 591 PubMed: Stone 2017 family, 3 affected F - (United States) - - - - - 3 LOVD
+/. - c.13316C>T r.(?) p.(Thr4439Ile) - Unknown - pathogenic g.215847937G>A g.215674595G>A - - USH2A_000385 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 5067 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+/. 63 c.13316C>T r.(?) p.(Thr4439Ile) - Parent #1 - pathogenic g.215847937G>A g.215674595G>A - - USH2A_000385 possible duplicate; unknown variant 2nd chromosome PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - - Germline - - - - - DNA SEQ - - retinal disease USH2-48 (D65) PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 family, 2 affeted F no Denmark - - - - - 2 Anne-Françoise Roux
+/. 63 c.13316C>T r.(?) p.(Thr4439Ile) - Parent #1 - pathogenic g.215847937G>A g.215674595G>A - - USH2A_000385 possible duplicate; unknown variant 2nd chromosome PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - - Germline - - - - - DNA SEQ - - retinal disease USH2-48a (D64) PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - F no Denmark - - - - - 1 Anne-Françoise Roux
+/. 63 c.13316C>T r.(?) p.(Thr4439Ile) - Parent #2 - pathogenic (recessive) g.215847937G>A g.215674595G>A - - USH2A_000385 - Tranebjaerg 2011, PubMed: Dad 2016 - - Germline - - - - - DNA PE - - retinal disease USH2-18 Tranebjaerg 2011, PubMed: Dad 2016 - F no Denmark - - - - - 1 LOVD
+/. 63 c.13316C>T r.(?) p.(Thr4439Ile) - Parent #2 - pathogenic (recessive) g.215847937G>A g.215674595G>A - - USH2A_000385 possible duplicate PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - - Germline - - - - - DNA SEQ - - retinal disease USH2-22 (D26) PubMed: Dreyer 2000, PubMed: Dreyer 2008, PubMed: Dad 2016 - F no Denmark - - - - - 1 Anne-Françoise Roux
+/. - c.13316C>T r.(?) p.(Thr4439Ile) - Unknown - pathogenic g.215847937G>A g.215674595G>A - - USH2A_000385 no variant 2nd chromosome PubMed: Neuhaus 2017 - - Germline - - - - - DNA SEQ-NG - gene panel USH Pat57 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. - c.13316C>T r.(?) p.(Thr4439Ile) - Parent #2 - pathogenic (recessive) g.215847937G>A g.215674595G>A - - USH2A_000385 - PubMed: Van Huet 2015 - - Germline - - - - - DNA PE, SEQ - APEX retinal disease - PubMed: Van Huet 2015 - - - Netherlands - - - - - 1 LOVD
+?/. - c.13316C>T r.(?) p.(Thr4439Ile) - Unknown ACMG likely pathogenic g.215847937G>A - - - USH2A_000385 - PubMed: Mansard et al, 2021 - rs753330544 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+?/. - c.13316C>T r.(?) p.(Thr4439Ile) - Both (homozygous) ACMG likely pathogenic g.215847937G>A - - - USH2A_000385 - PubMed: Mansard et al, 2021 - rs753330544 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+?/. - c.13316C>T r.(?) p.(Thr4439Ile) - Maternal (confirmed) ACMG likely pathogenic g.215847937G>A - - - USH2A_000385 - PubMed: Mansard et al, 2021 - rs753330544 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+?/. - c.13316C>T r.(?) p.(Thr4439Ile) - Unknown ACMG likely pathogenic g.215847937G>A - - - USH2A_000385 - PubMed: Mansard et al, 2021 - rs753330544 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+?/. - c.13316C>T r.(?) p.(Thr4439Ile) - Unknown - likely pathogenic g.215847937G>A g.215674595G>A USH2A c.13316C>T, p.Thr4439Ile - USH2A_000385 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G000991 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.13316C>T r.(?) p.(Thr4439Ile) - Unknown - pathogenic g.215847937G>A g.215674595G>A USH2A c.13316C>T, p.Thr4439lle - USH2A_000385 heterozygous PubMed: Thorsteinsson 2021 - - Unknown ? - - - - DNA SEQ-NG - retrospective analysis retinal disease US3 PubMed: Thorsteinsson 2021 - ? - Iceland - - - - - 1 LOVD
+/. - c.13316C>T r.(?) p.(Thr4439Ile) - Unknown - pathogenic g.215847937G>A g.215674595G>A USH2A c.13316C>T, p.Thr4439lle - USH2A_000385 heterozygous PubMed: Thorsteinsson 2021 - - Unknown ? - - - - DNA SEQ-NG - retrospective analysis retinal disease US4 PubMed: Thorsteinsson 2021 - ? - Iceland - - - - - 1 LOVD
+?/. 63 c.13316C>T r.(?) p.(Thr4439Ile) - Unknown - likely pathogenic g.215847937G>A - p.T4439I - USH2A_000385 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+?/. - c.13316C>T r.(?) p.(Thr4439Ile) - Parent #1 - likely pathogenic g.215847937G>A g.215674595G>A USH2A c.13316C>T - USH2A_000385 protein variant annotation not written; heterozygous PubMed: Toms 2020 - - Unknown ? - - - - ? ? - retrospective cohort retinal disease 32 PubMed: Toms 2020 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.13316C>T r.(?) p.(Thr4439Ile) - Parent #2 - likely pathogenic g.215847937G>A g.215674595G>A USH2A c.13316C>T - USH2A_000385 protein variant annotation not written; heterozygous PubMed: Toms 2020 - - Unknown ? - - - - ? ? - retrospective cohort retinal disease 26 PubMed: Toms 2020 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.13316C>T r.(?) p.(Thr4439Ile) - Parent #1 - likely pathogenic g.215847937G>A g.215674595G>A USH2A c.13316C>T - USH2A_000385 no protein annotation written; heterozygous PubMed: Charng 2020 - - Germline yes - - - - DNA SEQ-NG-I blood NGS SmartPanel (version 4 or 7, 183 or 233 genes) retinal disease 4 PubMed: Charng 2020 - F - Australia - - - - - 1 LOVD
+/. 63 c.13316C>T r.(?) p.(Thr4439Ile) - Parent #2 - pathogenic g.215847937G>A - c.13316C>T - USH2A_000385 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
?/. - c.13316C>T r.(?) p.(Thr4439Ile) - Unknown ACMG VUS g.215847937G>A g.215674595G>A - - USH2A_000385 ACMG GN005 criteria: PM2_P PM3_VS PubMed: Lenassi, E. et al., 2015; PubMed: Bonnet, C. et al., 2016; PubMed: Le Quesne Stabej, P. et al., 2012; PubMed: Wafa, T. T. et al., 2021; PubMed: Mansard, L. et al., 2021 - rs753330544 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.13316C>T r.(?) p.(Thr4439Ile) - Paternal (inferred) - pathogenic (recessive) g.215847937G>A g.215674595G>A - - USH2A_000385 - PubMed: Wen 2023 - - Germline - - - - - DNA SEQ-NG - - USH RKK_569 PubMed: Wen 2023 2-generation family, 1 affected, unaffected heterozygous carrier mother/relatives M - United States - - - - - 1 Johan den Dunnen
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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