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.

34 entries on 1 page. Showing entries 1 - 34.
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+/? 63 c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) Fibronectin type-III 30 (4444-4528) Unknown ACMG likely pathogenic g.215847906_215847918delinsCAAG g.215674564_215674576delinsCAAG - - USH2A_000410 Heterozygous PubMed: McGee 2010 - rs111033408 Germline - - - - - DNA SEQ - - RPar - PubMed: McGee 2010 No genotype in the publication - - United States - - - - - 2 Anne-Françoise Roux
+/? 63 c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) Fibronectin type-III 30 (4444-4528) Unknown ACMG likely pathogenic g.215847906_215847918delinsCAAG g.215674564_215674576delinsCAAG - - USH2A_000410 Heterozygous; likely pathogenic PubMed: Glöckle 2014 - rs111033408 Germline - - - - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Glöckle 2014 Proband - - - - - - - - 1 Anne-Françoise Roux
+/? 63 c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) Fibronectin type-III 30 (4444-4528) Paternal (inferred) ACMG likely pathogenic g.215847906_215847918delinsCAAG g.215674564_215674576delinsCAAG - - USH2A_000410 Homozygous; likely pathogenic PubMed: Glöckle 2014 - rs111033408 Germline - - - - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Glöckle 2014 Proband - - - - - - - - 1 Anne-Françoise Roux
+/? 63 c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) Fibronectin type-III 30 (4444-4528) Maternal (inferred) ACMG likely pathogenic g.215847906_215847918delinsCAAG g.215674564_215674576delinsCAAG - - USH2A_000410 Homozygous; likely pathogenic PubMed: Glöckle 2014 - rs111033408 Germline - - - - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Glöckle 2014 Proband - - - - - - - - 1 Anne-Françoise Roux
+/. - c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) - Unknown - pathogenic (recessive) g.215847906_215847918delinsCAAG - 1:215847906AGAGTCCATGTTC>CAAG ENST00000307340.3:c.13335_13347delGAACATGGACTCTinsCTTG (Glu4445_Ser4449delinsAspLeu) - USH2A_000410 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G001050 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) - Unknown - pathogenic (recessive) g.215847906_215847918delinsCAAG - 1:215847906AGAGTCCATGTTC>CAAG ENST00000307340.3:c.13335_13347delGAACATGGACTCTinsCTTG (Glu4445_Ser4449delinsAspLeu) - USH2A_000410 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G005191 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
?/. - c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) - Unknown - VUS g.215847906_215847918delinsCAAG g.215674564_215674576delinsCAAG - - USH2A_000410 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 184-gene panel retinal disease RD11–04 PubMed: Wang 2017 - - - United States - - - - - 1 LOVD
+?/. - c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) - Parent #1 - likely pathogenic g.215847906_215847918delinsCAAG g.215674564_215674576delinsCAAG 13335_13347delGAACATGGACTCTinsCTTG - USH2A_000410 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 99 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) - Parent #1 - likely pathogenic g.215847906_215847918delinsCAAG g.215674564_215674576delinsCAAG 13335_13347delGAACATGGACTCTinsCTTG - USH2A_000410 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 578 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+?/. - c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) - Parent #2 - likely pathogenic (recessive) g.215847906_215847918delinsCAAG g.215674564_215674576delinsCAAG 13335_13347del13ins4 - USH2A_000410 - PubMed: Weisschuh 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease ARRP82 PubMed: Weisschuh 2016 family - - Germany - - - - - 1 LOVD
+?/. - c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) - Unknown ACMG likely pathogenic g.215847906_215847918delinsCAAG g.215674564_215674576delinsCAAG USH2A c.2299del, p.(Glu767Serfs*21), c.4714C>T, p.(Leu1572Phe), c.13335_13347delinsCTTG, p.(Glu4445_Ser4449delinsAspLeu) - USH2A_000410 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 300 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) - Unknown - likely pathogenic g.215847906_215847918delinsCAAG g.215674564_215674576delinsCAAG c.11864G>A p.(Trp3955*), c.13335_13347delinsCTTG p.(Glu4445_Ser4449delinsAspLeu) - USH2A_000410 - PubMed: Hagag 2020 - - Germline/De novo (untested) ? - - - - DNA ? - - retinal disease Subject 019 PubMed: Hagag 2020 - ? - - - - - - - 1 LOVD
+?/. - c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) - Unknown - likely pathogenic g.215847906_215847918delinsCAAG g.215674564_215674576delinsCAAG c.9459C>A p.(Cys3153*), c.1333513347delinsCTTG p.(Glu4445_4449delinsAspLeu) - USH2A_000410 - PubMed: Hagag 2020 - - Germline/De novo (untested) ? - - - - DNA ? - - retinal disease Subject 053 PubMed: Hagag 2020 - ? - - - - - - - 1 LOVD
+?/. - c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) - Parent #1 - likely pathogenic g.215847906_215847918delinsCAAG g.215674564_215674576delinsCAAG USH2A, variant 1: c.13335_13347delinsCTTG/ p.E4445_S4449delinsDL, variant 2: c.11864G>A/p.W3955* - USH2A_000410 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 905 PubMed: Weisschuh 2020 Filing key number: 382, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) - Parent #1 - likely pathogenic g.215847906_215847918delinsCAAG g.215674564_215674576delinsCAAG USH2A, variant 1: c.13335_13347delinsCTTG/ p.E4445_S4449delinsDL, variant 2: c.13335_13347delinsCTTG/ p.E4445_S4449delinsDL - USH2A_000410 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 1090 PubMed: Weisschuh 2020 Filing key number: 726, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) - Parent #1 - likely pathogenic g.215847906_215847918delinsCAAG g.215674564_215674576delinsCAAG USH2A, variant 1: c.13335_13347delinsCTTG/ p.E4445_S4449delinsDL, variant 2: c.8682-9A>G/p.? - USH2A_000410 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 1204 PubMed: Weisschuh 2020 Filing key number: 913, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) - Parent #1 - likely pathogenic g.215847906_215847918delinsCAAG g.215674564_215674576delinsCAAG USH2A, variant 1: c.13335_13347delinsCTTG/ p.E4445_S4449delinsDL, variant 2: c.10974_10975dup/ p.T3659Ifs*16 - USH2A_000410 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 1213 PubMed: Weisschuh 2020 Filing key number: 943, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) - Parent #1 - likely pathogenic g.215847906_215847918delinsCAAG g.215674564_215674576delinsCAAG USH2A, variant 1: c.9424G>T/p.G3142*, variant 2: c.13335_13347delinsCTTG/ p.E4445_S4449delinsDL - USH2A_000410 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 69 PubMed: Weisschuh 2020 Filing key number: 33, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) - Parent #1 - likely pathogenic g.215847906_215847918delinsCAAG g.215674564_215674576delinsCAAG USH2A, variant 1: c.9433C>T/p.L3145F, variant 2: c.13335_13347delinsCTTG/ p.E4445_S4449delinsDL - USH2A_000410 solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 239 PubMed: Weisschuh 2020 Filing key number: 82, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) - Parent #1 - likely pathogenic g.215847906_215847918delinsCAAG g.215674564_215674576delinsCAAG USH2A, variant 1: c.9433C>T/p.L3145F, variant 2: c.13335_13347delinsCTTG/ p.E4445_S4449delinsDL - USH2A_000410 solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 240 PubMed: Weisschuh 2020 Filing key number: 82, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) - Parent #1 - likely pathogenic g.215847906_215847918delinsCAAG g.215674564_215674576delinsCAAG USH2A, variant 1: c.9433C>T/p.L3145F, variant 2: c.13335_13347delinsCTTG/ p.E4445_S4449delinsDL - USH2A_000410 solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 241 PubMed: Weisschuh 2020 Filing key number: 82, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) - Parent #1 - likely pathogenic g.215847906_215847918delinsCAAG g.215674564_215674576delinsCAAG USH2A, variant 1: c.11864G>A/p.W3955*, variant 2: c.13335_13347delinsCTTG/ p.E4445_S4449delinsDL - USH2A_000410 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET1 targeted sequencing panel - see paper retinal disease 482 PubMed: Weisschuh 2020 Filing key number: 158, Usher syndrome type 2, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) - Parent #1 - likely pathogenic g.215847906_215847918delinsCAAG g.215674564_215674576delinsCAAG USH2A, variant 1: c.10712C>T/p.T3571M, variant 2: c.13335_13347delinsCTTG/ p.E4445_S4449delinsDL - USH2A_000410 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 837 PubMed: Weisschuh 2020 Filing key number: 344, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) - Unknown - likely pathogenic g.215847906_215847918delinsCAAG g.215674564_215674576delinsCAAG USH2A c.13335_13347delGAACATGGACTCTinsCTTG, p.Glu4445_Ser4449delinsAspLeu - USH2A_000410 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G005191 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.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) - Unknown - likely pathogenic g.215847906_215847918delinsCAAG g.215674564_215674576delinsCAAG USH2A c.13335_13347delGAACATGGACTCTinsCTTG, p.Glu4445_Ser4449delinsAspLeu - USH2A_000410 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001050 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. 63 c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) - Unknown - pathogenic (recessive) g.215847906_215847918delinsCAAG - c.13335_13347delinsCTTG - USH2A_000410 - PubMed: Colombo-2020 - rs1553252388 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+/. 63 c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) - Unknown - pathogenic (recessive) g.215847906_215847918delinsCAAG - c.13335_13347delinsCTTG - USH2A_000410 - PubMed: Colombo-2020 - rs1553252388 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+/. 63 c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) - Unknown - pathogenic (recessive) g.215847906_215847918delinsCAAG - c.13335_13347delinsCTTG - USH2A_000410 - PubMed: Colombo-2020 - rs1553252388 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+/. 63 c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) - Unknown - pathogenic g.215847906_215847918delinsCAAG - c.13335_13347delinsCTTG - USH2A_000410 - PubMed: Colombo-2020 - rs1553252388 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+?/. - c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) - Parent #2 - likely pathogenic g.215847906_215847918delinsCAAG g.215674564_215674576delinsCAAG USH2A c.13335_13347delinsCTTG - USH2A_000410 protein variant annotation not written; heterozygous PubMed: Toms 2020 - - Unknown ? - - - - ? ? - retrospective cohort retinal disease 8 PubMed: Toms 2020 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) - Parent #1 - pathogenic g.215847906_215847918delinsCAAG g.215674564_215674576delinsCAAG USH2A c.13335_13347delinsCTTG, p.(Glu4445_Ser4449delinsAspLeu) - USH2A_000410 heterozygous PubMed: Falsini 2021 - - Germline yes - - - - DNA SEQ-NG-I - retrospective study (warning: duplicates in database possible) retinal disease 22 PubMed: Falsini 2021 - F - Italy - - - - - 1 LOVD
+/. - c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) - Unknown ACMG pathogenic g.215847906_215847918delinsCAAG g.215674564_215674576delinsCAAG - - USH2A_000410 ACMG GN005 criteria: PM2_P PM3_VS PM4_M PP3_P PP1_M PubMed: Falsini, B. et al., 2021; PubMed: Glockle, N. et al., 2014; PubMed: Colombo, L. et al., 2022; PubMed: Maltese, P. E. et al., 2022; PubMed: Maltese, P. E. et al., 2022; PubMed: Weisschuh, N. et al., 2020; PubMed: Colombo, L. et al., 2021 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) - Unknown ACMG likely pathogenic (recessive) g.215847906_215847918delinsCAAG g.215674564_215674576delinsCAAG - - USH2A_000410 ACMG PM2, PM1_SUPPORTING, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-443 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+?/. - c.13335_13347delinsCTTG r.(?) p.(Glu4445_Ser4449delinsAspLeu) - Unknown ACMG likely pathogenic (recessive) g.215847906_215847918delinsCAAG g.215674564_215674576delinsCAAG - - USH2A_000410 ACMG PM2, PM1_SUPPORTING, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1156 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 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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