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.

16 entries on 1 page. Showing entries 1 - 16.
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-?/? 65 c.14219C>A r.(?) p.(Ala4740Asp) Fibronectin type-III 33 (4732-4825) Paternal (confirmed) ACMG likely benign g.215824058G>T g.215650716G>T - - USH2A_000767 Heterozygous; likely pathogenic PubMed: Glöckle 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - -BanII;-Bsp1286I; - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Glöckle 2014 Proband - - - - - - - - 1 Anne-Françoise Roux
-?/? 65 c.14219C>A r.(?) p.(Ala4740Asp) Fibronectin type-III 33 (4732-4825) Unknown ACMG likely benign g.215824058G>T g.215650716G>T - - USH2A_000767 Heterozygous PubMed: Lenassi 2015, USMA missense analysis, missense variant in MSV3d - - Germline - - -BanII;-Bsp1286I; - - DNA SEQ - - RPar - PubMed: Lenassi 2015 Proband - - United Kingdom (Great Britain) - - - - - 1 Eva Lenassi
-?/? 65 c.14219C>A r.(?) p.(Ala4740Asp) Fibronectin type-III 33 (4732-4825) Unknown ACMG likely benign g.215824058G>T g.215650716G>T - - USH2A_000767 Heterozygous PubMed: Licastro 2012, USMA missense analysis, missense variant in MSV3d - - Germline - - -BanII;-Bsp1286I; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Licastro 2012 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+?/. - c.14219C>A r.(?) p.(Ala4740Asp) - Unknown - likely pathogenic g.215824058G>T g.215650716G>T - - USH2A_000767 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.14219C>A r.(?) p.(Ala4740Asp) - Parent #1 - likely pathogenic g.215824058G>T g.215650716G>T - - USH2A_000767 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 288 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+?/. 65 c.14219C>A r.(?) p.(Ala4740Asp) - Unknown ACMG likely pathogenic g.215824058G>T g.215650716G>T c.14219C>A, p.Ala4740Asp - USH2A_000767 Heterozygous PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG blood - retinal disease 17 PubMed: Birtel 2018 - M - Germany - - - - - 1 LOVD
?/. - c.14219C>A r.(?) p.(Ala4740Asp) - Unknown ACMG VUS g.215824058G>T g.215650716G>T USH2A c.14219C>A, p.(Ala4740Asp), c.5546_5547del, p.(Ser1849Leufs*18) - USH2A_000767 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 274 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.14219C>A r.(?) p.(Ala4740Asp) - Both (homozygous) - likely pathogenic g.215824058G>T g.215650716G>T USH2A c.14219C>A, p.Ala4740Asp - USH2A_000767 homozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 003-387 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.14219C>A r.(?) p.(Ala4740Asp) - Unknown - likely pathogenic g.215824058G>T g.215650716G>T c.14219C>A, p.Ala4740Asp - USH2A_000767 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 003-387 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
?/. - c.14219C>A r.(?) p.(Ala4740Asp) - Unknown - VUS g.215824058G>T g.215650716G>T c.14219C>A, p.Ala4740Asp - USH2A_000767 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-163 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.14219C>A r.(?) p.(Ala4740Asp) - Parent #1 - likely pathogenic g.215824058G>T g.215650716G>T USH2A, variant 1: c.14219C>A/p.A4740D, variant 2: c.7040T>A/p.V2347E - USH2A_000767 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 1197 PubMed: Weisschuh 2020 Filing key number: 896, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.14219C>A r.(?) p.(Ala4740Asp) - Parent #1 - likely pathogenic g.215824058G>T g.215650716G>T USH2A, variant 1: c.7595-2144A>G/p.?, variant 2: c.14219C>A/p.A4740D - USH2A_000767 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 897 PubMed: Weisschuh 2020 Filing key number: 376, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.14219C>A r.(?) p.(Ala4740Asp) - Parent #1 - likely pathogenic g.215824058G>T g.215650716G>T USH2A, variant 1: c.12574C>T/p.R4192C, variant 2: c.14219C>A/p.A4740D - USH2A_000767 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 1243 PubMed: Weisschuh 2020 Filing key number: 1012, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. 65 c.14219C>A r.(?) p.(Ala4740Asp) - Unknown - likely pathogenic (recessive) g.215824058G>T - c.14219C>A - USH2A_000767 - PubMed: Colombo-2020 - rs539192853 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+?/. 65 c.14219C>A r.(?) p.(Ala4740Asp) - Unknown - likely pathogenic g.215824058G>T - c.14219C>A - USH2A_000767 - PubMed: Colombo-2020 - rs539192853 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
?/. - c.14219C>A r.(?) p.(Ala4740Asp) - Unknown ACMG VUS g.215824058G>T g.215650716G>T - - USH2A_000767 ACMG GN005 criteria: PM2_P PM3_S PubMed: Glockle, N. et al., 2014; PubMed: Colombo, L. et al., 2022; PubMed: Weisschuh, N. et al., 2020; PubMed: Colombo, L. et al., 2021 - rs539192853 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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