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.

37 entries on 1 page. Showing entries 1 - 37.
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AscendingDNA change (cDNA)     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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+?/? 42 c.8254G>A r.(?) p.(Gly2752Arg) Fibronectin type-III 14 (2724-2812) Unknown ACMG VUS g.216052410C>T g.215879068C>T - - USH2A_000150 Heterozygous PubMed: Nakanishi 2009, USMA missense analysis, missense variant in MSV3d - rs201863550 Germline - 0/270 controls none - - DNA SEQ - - USH2 - PubMed: Nakanishi 2009 Proband F - Japan - - - - - 1 Anne-Françoise Roux
+?/? 42 c.8254G>A r.(?) p.(Gly2752Arg) Fibronectin type-III 14 (2724-2812) Parent #1 ACMG VUS g.216052410C>T g.215879068C>T - - USH2A_000150 Heterozygous; Presumably pathogenic PubMed: Bonnet 2011, USMA missense analysis, missense variant in MSV3d - rs201863550 Germline - 0/306 controls none - - DNA SEQ - - USH3 - PubMed: Bonnet 2011 Proband - - - - - - - - 1 Anne-Françoise Roux
+?/? 42 c.8254G>A r.(?) p.(Gly2752Arg) Fibronectin type-III 14 (2724-2812) Paternal (confirmed) ACMG VUS g.216052410C>T g.215879068C>T - - USH2A_000150 Heterozygous; possible non pathogenic PubMed: Zhao 2014, USMA missense analysis, missense variant in MSV3d - rs201863550 Germline - 0/270 controls none - - DNA SEQ - - RPar - PubMed: Zhao 2014 Proband M - Japan - - - - - 1 Anne-Françoise Roux
+?/? 42 c.8254G>A r.(?) p.(Gly2752Arg) Fibronectin type-III 14 (2724-2812) Unknown ACMG VUS g.216052410C>T g.215879068C>T - - USH2A_000150 Heterozygous PubMed: Lenassi 2015, USMA missense analysis, missense variant in MSV3d - rs201863550 Germline - - none - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Lenassi 2015 Proband - - Canada - - - - - 1 Eva Lenassi
+/. - c.8254G>A r.(?) p.(Gly2752Arg) - Unknown - pathogenic g.216052410C>T g.215879068C>T - - USH2A_000150 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs201863550 Germline - 12/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 12 Yoshito Koyanagi
+/. - c.8254G>A r.(?) p.(Gly2752Arg) - Both (homozygous) - pathogenic g.216052410C>T g.215879068C>T - - USH2A_000150 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs201863550 Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
+/. - c.8254G>A r.(?) p.(Gly2752Arg) - Parent #2 - pathogenic (recessive) g.216052410C>T g.215879068C>T - - USH2A_000150 - PubMed: Fuster-Garcia 2018 - - Germline - - - - - DNA arraySEQ - - retinal disease RP2050 PubMed: Fuster-Garcia 2018 analysis 77 USH patients - - Spain - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.8254G>A r.(?) p.(Gly2752Arg) - Unknown ACMG likely pathogenic (recessive) g.216052410C>T g.215879068C>T - - USH2A_000150 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ - - HL 19999 PubMed: Sun 2018 family - no China - - - - - 1 LOVD
+/. - c.8254G>A r.(?) p.(Gly2752Arg) - Unknown ACMG pathogenic (recessive) g.216052410C>T g.215879068C>T c.G8254A - USH2A_000150 - PubMed: Zhang 2016 - - Germline - - - - - DNA SEQ-NG - 226-gene panel retinal disease BLM053 PubMed: Zhang 2016 simplex case M - United States Hispanic - - - - 1 LOVD
+?/. - c.8254G>A r.(?) p.(Gly2752Arg) - Parent #2 - likely pathogenic g.216052410C>T g.215879068C>T - - USH2A_000150 - PubMed: Perez-Carro 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP-1976 PubMed: Perez-Carro 2016 - - - Spain - - - - - 1 LOVD
+?/. - c.8254G>A r.(?) p.(Gly2752Arg) - Unknown ACMG VUS g.216052410C>T - - - USH2A_000150 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_GH_0140 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.8254G>A r.(?) p.(Gly2752Arg) - Unknown ACMG likely pathogenic g.216052410C>T g.215879068C>T USH2A c.2299del, p.(Glu767Serfs*21), c.4714C>T, p.(Leu1572Phe), c.8254G>A, p.(Gly2752Arg),, pROM1 c.1355dup, p.(Tyr452*) - USH2A_000150 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 270 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. 42 c.8254G>A r.(?) p.(Gly2752Arg) - Unknown - likely pathogenic g.216052410C>T g.215879068C>T USH2A Ex.13 c.2276G>T p.(Cys759Phe), Ex.42 c.8254G>A p.(Gly2752Arg) - USH2A_000150 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-1976 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 42 c.8254G>A r.(?) p.(Gly2752Arg) - Unknown - likely pathogenic g.216052410C>T g.215879068C>T USH2A Ex.6 c.949C>A p.(Arg317Arg), Ex.42 c.8254G>A p.(Gly2752Arg) - USH2A_000150 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA arraySNP - - retinal disease RP-3022 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+/. 42 c.8254G>A r.(?) p.(Gly2752Arg) - Unknown ACMG pathogenic g.215879068C>T g.215879068C>T USH2A c.8254G > A, p.Gly2752Arg, heterozygous - USH2A_000150 - PubMed: Sun 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 20 PubMed: Sun 2020 - F - China - - - - - 1 LOVD
+?/. - c.8254G>A r.(?) p.(Gly2752Arg) - Unknown - likely pathogenic g.216052410C>T g.215879068C>T USH2A p.(Gly2752Arg) - USH2A_000150 only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations), c.8254G>C also causes this change; compound heterozygous PubMed: Koyanagi 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease OPH-302 PubMed: Koyanagi 2020 - M - Japan - - - - - 1 LOVD
+?/. - c.8254G>A r.(?) p.(Gly2752Arg) - Both (homozygous) - likely pathogenic g.216052410C>T g.215879068C>T USH2A p.(Gly2752Arg) - USH2A_000150 only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); homozygous PubMed: Koyanagi 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease OPH-43 PubMed: Koyanagi 2020 - F - Japan - - - - - 1 LOVD
+?/. - c.8254G>A r.(?) p.(Gly2752Arg) - Unknown - likely pathogenic g.64436439C>G g.63726546C>G USH2A p.(Gly2752Arg) - USH2A_000150 only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); compound heterozygous PubMed: Koyanagi 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease OPH-570 PubMed: Koyanagi 2020 - M - Japan - - - - - 1 LOVD
+/. 42 c.8254G>A r.(?) p.(Gly2752Arg) - Unknown - pathogenic g.216052410C>T - c.8254G>A - USH2A_000150 - PubMed: Colombo-2020 - rs201863550 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+/. 42 c.8254G>A r.(?) p.(Gly2752Arg) - Both (homozygous) - pathogenic (recessive) g.216052410C>T - c.8254G>A:p.G2752R - USH2A_000150 - PubMed: Numa-2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - M - Japan Japanese - - - - 1 LOVD
+?/. - c.8254G>A r.(?) p.(Gly2752Arg) - Maternal (confirmed) - likely pathogenic g.216052410C>T g.215879068C>T USH2A c.G8254A, p.G2752R - USH2A_000150 heterozygous PubMed: Zhu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease 2148-II:1 PubMed: Zhu 2020 - F - China - - - - - 1 LOVD
+?/. - c.8254G>A r.(?) p.(Gly2752Arg) - Maternal (confirmed) - likely pathogenic g.216052410C>T g.215879068C>T USH2A c.G8254A, p.G2752R - USH2A_000150 heterozygous PubMed: Zhu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease 2148-II:6 PubMed: Zhu 2020 - M - China - - - - - 1 LOVD
+?/. 42 c.8254G>A r.(?) p.(Gly2752Arg) - Parent #1 ACMG likely pathogenic g.216052410C>T g.215879068C>T USH2A c.8254G>A, p.G2752R - USH2A_000150 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF421 PubMed: Zhu 2021 family 115, patient SRF421 M - China - - - - - 1 LOVD
+?/. 42 c.8254G>A r.(?) p.(Gly2752Arg) - Parent #1 ACMG likely pathogenic g.216052410C>T g.215879068C>T USH2A c.8254G>A, p.G2752R - USH2A_000150 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF486 PubMed: Zhu 2021 family 79, patient SRF486 F - China - - - - - 1 LOVD
+?/. 42 c.8254G>A r.(?) p.(Gly2752Arg) - Parent #1 ACMG likely pathogenic g.216052410C>T g.215879068C>T USH2A c.8254G>A, p.G2752R - USH2A_000150 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF408 PubMed: Zhu 2021 family 35, patient SRF408 F - China - - - - - 1 LOVD
+?/. 42 c.8254G>A r.(?) p.(Gly2752Arg) - Parent #2 ACMG likely pathogenic g.216052410C>T g.215879068C>T USH2A c.8254G>A, p.G2752R - USH2A_000150 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 42628935 PubMed: Zhu 2021 family 65, patient 42628935 M - China - - - - - 1 LOVD
+?/. 42 c.8254G>A r.(?) p.(Gly2752Arg) - Parent #2 ACMG likely pathogenic g.216052410C>T g.215879068C>T USH2A c.8254G>A, p.G2752R - USH2A_000150 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 42628935_1 PubMed: Zhu 2021 family 65, patient 42628935_1 F - China - - - - - 1 LOVD
+?/. - c.8254G>A r.(?) p.(Gly2752Arg) - Both (homozygous) - likely pathogenic g.216052410C>T g.215879068C>T USH2A c.8254G>A, p.(Gly2752Arg) - USH2A_000150 homozygous PubMed: Inaba 2020 - - Unknown ? - - - - DNA SEQ-NG-I - panel of 39 (238 patients) or 50 (287 patients) genes retinal disease - PubMed: Inaba 2020 - - - Japan - - - - - 1 LOVD
+?/. - c.8254G>A r.(?) p.(Gly2752Arg) - Parent #1 - likely pathogenic g.216052410C>T g.215879068C>T USH2A c.8254G>A, p.(Gly2752Arg) - USH2A_000150 heterozygous PubMed: Inaba 2020 - - Unknown ? - - - - DNA SEQ-NG-I - panel of 39 (238 patients) or 50 (287 patients) genes retinal disease - PubMed: Inaba 2020 - - - Japan - - - - - 1 LOVD
+?/. - c.8254G>A r.(?) p.(Gly2752Arg) - Parent #2 - likely pathogenic g.216052410C>T g.215879068C>T USH2A c.8254G>A, p.(Gly2752Arg) - USH2A_000150 heterozygous PubMed: Inaba 2020 - - Unknown ? - - - - DNA SEQ-NG-I - panel of 39 (238 patients) or 50 (287 patients) genes retinal disease - PubMed: Inaba 2020 - - - Japan - - - - - 1 LOVD
+?/. - c.8254G>A r.(?) p.(Gly2752Arg) - Parent #2 - likely pathogenic g.216052410C>T g.215879068C>T USH2A c.8254G>A, p.(Gly2752Arg) - USH2A_000150 heterozygous PubMed: Inaba 2020 - - Unknown ? - - - - DNA SEQ-NG-I - panel of 39 (238 patients) or 50 (287 patients) genes retinal disease - PubMed: Inaba 2020 - - - Japan - - - - - 1 LOVD
+?/. - c.8254G>A r.(?) p.(Gly2752Arg) - Parent #2 - likely pathogenic g.216052410C>T g.215879068C>T USH2A c.8254G>A, p.(Gly2752Arg) - USH2A_000150 heterozygous PubMed: Inaba 2020 - - Unknown ? - - - - DNA SEQ-NG-I - panel of 39 (238 patients) or 50 (287 patients) genes retinal disease - PubMed: Inaba 2020 - - - Japan - - - - - 1 LOVD
+/. - c.8254G>A r.(?) p.(Gly2752Arg) - Unknown - pathogenic g.216052410C>T - - - USH2A_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 42 c.8254G>A r.(?) p.(Gly2752Arg) - Both (homozygous) - likely pathogenic g.216052410C>T - c.8254G>A - USH2A_000150 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+?/. 42 c.8254G>A r.(?) p.(Gly2752Arg) - Parent #2 - likely pathogenic g.216052410C>T - c.8254G>A - USH2A_000150 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+?/. 42 c.8254G>A r.(?) p.(Gly2752Arg) - Parent #2 - likely pathogenic g.216052410C>T - c.8254G>A - USH2A_000150 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+?/. - c.8254G>A r.(?) p.(Gly2752Arg) - Unknown ACMG likely pathogenic g.216052410C>T g.215879068C>T - - USH2A_000150 ACMG GN005 criteria: PM2_P PM3_VS PubMed: Lenassi, E. et al., 2015; PubMed: Sun, T. et al., 2018; PubMed: Zhu, X. et al., 2020; PubMed: Colombo, L. et al., 2022; PubMed: Kim, Y. N. et al., 2021; PubMed: Sun, Y. et al., 2020; PubMed: Inaba, A. et al., 2020 - rs201863550 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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