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.

50 entries on 1 page. Showing entries 1 - 50.
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AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Re-site     

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Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

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Owner     
+?/? 70 c.15178T>C r.(?) p.(Ser5060Pro) Transmembrane (5043-5063) Unknown ACMG VUS g.215807920A>G g.215634578A>G - - USH2A_000890 Heterozygous PubMed: Lenassi 2015, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Lenassi 2015 Proband - - Canada - - - - - 1 Eva Lenassi
+/. - c.15178T>C r.(?) p.(Ser5060Pro) - Unknown - pathogenic g.215807920A>G g.215634578A>G - - USH2A_000890 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs752377040 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.15178T>C r.(?) p.(Ser5060Pro) - Unknown ACMG pathogenic (recessive) g.215807920A>G g.215634578A>G - - USH2A_000890 - PubMed: Sun 2018 - - Germline - - - - - DNA MLPA, SEQ-NG - - HL 19077 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+?/. 70 c.15178T>C r.(?) p.(Ser5060Pro) - Unknown - likely pathogenic g.215807920A>G g.215634578A>G T15178C - USH2A_000890 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP#028 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
+/. 70 c.15178T>C r.(?) p.(Ser5060Pro) - Unknown ACMG pathogenic g.215807920A>G g.215634578A>G NM_206933.2:c.15178T>C, NP_996816.2:p.(Ser5060Pro), NC_000001.10:g.215807920A>G - USH2A_000890 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016060112 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+/. 70 c.15178T>C r.(?) p.(Ser5060Pro) - Unknown ACMG pathogenic g.215807920A>G g.215634578A>G NM_206933.2:c.15178T>C, NP_996816.2:p.(Ser5060Pro), NC_000001.10:g.215807920A>G - USH2A_000890 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - exome sequencing retinal disease 2016101712 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+/. 70 c.15178T>C r.(?) p.(Ser5060Pro) - Unknown ACMG pathogenic g.215807920A>G g.215634578A>G NM_206933.2:c.15178T>C, NP_996816.2:p.(Ser5060Pro), NC_000001.10:g.215807920A>G - USH2A_000890 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2017010403 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+?/. - c.15178T>C r.(?) p.(Ser5060Pro) - Unknown - likely pathogenic g.215807920A>G g.215634578A>G c.15178A>G, p.(Ser5060Pro) - USH2A_000890 error in annotation: c.15178A>G instead of T>C, compound heterozygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13720 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+?/. - c.15178T>C r.(?) p.(Ser5060Pro) - Unknown - likely pathogenic g.215807920A>G g.215634578A>G c.15178A>G, p.(Ser5060Pro) - USH2A_000890 error in annotation: c.15178T>C instead of G>A, compound heterozygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 14112 PubMed: Wang 2019 - F - China - - - - - 1 LOVD
+?/. - c.15178T>C r.(?) p.(Ser5060Pro) - Parent #2 - likely pathogenic g.215807920A>G g.215634578A>G USH2A c.15178T>C, p.S5060P - USH2A_000890 compound heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 110 PubMed: Jauregui 2020 - M - (United States) Asian - - - - 1 LOVD
+?/. - c.15178T>C r.(?) p.(Ser5060Pro) - Unknown - likely pathogenic g.215807920A>G g.215634578A>G USH2A p.(Ser5060Pro) - USH2A_000890 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 N-208 PubMed: Koyanagi 2020 - F - Japan - - - - - 1 LOVD
+?/. 70 c.15178T>C r.(?) p.(Ser5060Pro) - Unknown - likely pathogenic (recessive) g.215807920A>G - c.15178T>C - USH2A_000890 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - WES retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 70 c.15178T>C r.(?) p.(Ser5060Pro) - Unknown - likely pathogenic (recessive) g.215807920A>G - c.15178T>C - USH2A_000890 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 70 c.15178T>C r.(?) p.(Ser5060Pro) - Unknown - likely pathogenic (recessive) g.215807920A>G - c.15178T>C - USH2A_000890 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 70 c.15178T>C r.(?) p.(Ser5060Pro) - Unknown - likely pathogenic (recessive) g.215807920A>G - c.15178T>C - USH2A_000890 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. - c.15178T>C r.(?) p.(Ser5060Pro) - Parent #2 ACMG likely pathogenic g.215807920A>G g.215634578A>G USH2A c.[820C>T];[15178T>C], V2: c.15178T>C, (p.Ser5060Pro) - USH2A_000890 alleles in trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F013 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. 70 c.15178T>C r.(?) p.(Ser5060Pro) - Paternal (confirmed) - pathogenic g.215807920A>G g.215634578A>G USH2A c.15178T>C, p.S5060P - USH2A_000890 heterozygous PubMed: Qu 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood 103 known RD genes panel retinal disease RP F1-II-1 PubMed: Qu 2020 - F - - - - - - - 1 LOVD
?/. 70 c.15178T>C r.(?) p.(Ser5060Pro) - Parent #1 ACMG VUS g.215807920A>G g.215634578A>G USH2A c.15178T>C, p.Ser5060Pro - USH2A_000890 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes retinal disease 59 PubMed: Meng 2020 - F - China - - - - - 1 LOVD
?/. 70 c.15178T>C r.(?) p.(Ser5060Pro) - Parent #1 ACMG VUS g.215807920A>G g.215634578A>G USH2A c.15178T>C, p.Ser5060Pro - USH2A_000890 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes retinal disease 68 PubMed: Meng 2020 - F - China - - - - - 1 LOVD
?/. 70 c.15178T>C r.(?) p.(Ser5060Pro) - Parent #2 ACMG VUS g.215807920A>G g.215634578A>G USH2A c.15178T>C, p.Ser5060pro - USH2A_000890 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes retinal disease 37 PubMed: Meng 2020 - M - China - - - - - 1 LOVD
+/. - c.15178T>C r.(?) p.(Ser5060Pro) - Parent #1 - pathogenic g.215807920A>G g.215634578A>G USH2A c.15178T>C, p.Ser5060Pro - USH2A_000890 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease R0170400746 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.15178T>C r.(?) p.(Ser5060Pro) - Parent #1 - pathogenic g.215807920A>G g.215634578A>G USH2A c.15178T>C, p.Ser5060Pro - USH2A_000890 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease RD19033249 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+/. - c.15178T>C r.(?) p.(Ser5060Pro) - Parent #1 - pathogenic g.215807920A>G g.215634578A>G USH2A c.15178T>C, p.Ser5060Pro - USH2A_000890 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease RD18125239 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.15178T>C r.(?) p.(Ser5060Pro) - Parent #1 - pathogenic g.215807920A>G g.215634578A>G USH2A c.15178T>C, p.Ser5060Pro - USH2A_000890 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease RD18125302 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.15178T>C r.(?) p.(Ser5060Pro) - Parent #1 - pathogenic g.215807920A>G g.215634578A>G USH2A c.15178T>C, p.Ser5060Pro - USH2A_000890 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease RD19040022 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.15178T>C r.(?) p.(Ser5060Pro) - Parent #1 - pathogenic g.215807920A>G g.215634578A>G USH2A c.15178T>C, p.Ser5060Pro - USH2A_000890 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease DDP190031 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.15178T>C r.(?) p.(Ser5060Pro) - Parent #1 - pathogenic g.215807920A>G g.215634578A>G USH2A c.15178T>C, p.Ser5060Pro - USH2A_000890 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease RD181841B PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.15178T>C r.(?) p.(Ser5060Pro) - Parent #1 - pathogenic g.215807920A>G g.215634578A>G USH2A c.15178T>C, p.Ser5060Pro - USH2A_000890 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease DP18086534 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+/. - c.15178T>C r.(?) p.(Ser5060Pro) - Parent #1 - pathogenic g.215807920A>G g.215634578A>G USH2A c.15178T>C, p.Ser5060Pro - USH2A_000890 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease DTP1908998 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+/. 70 c.15178T>C r.(?) p.(Ser5060Pro) - Parent #1 ACMG pathogenic g.215807920A>G g.215634578A>G USH2A c.15178T>C, p.S5060P - USH2A_000890 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF975 PubMed: Zhu 2021 family 7, patient SRF975 F - China - - - - - 1 LOVD
+/. 70 c.15178T>C r.(?) p.(Ser5060Pro) - Parent #1 ACMG pathogenic g.215807920A>G g.215634578A>G USH2A c.15178T>C, p.S5060P - USH2A_000890 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF_1528 PubMed: Zhu 2021 family 12, patient SRF_1528 F - China - - - - - 1 LOVD
+/. 70 c.15178T>C r.(?) p.(Ser5060Pro) - Parent #1 ACMG pathogenic g.215807920A>G g.215634578A>G USH2A c.15178T>C, p.S5060P - USH2A_000890 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 44801411 PubMed: Zhu 2021 family 120, patient 44801411 F - China - - - - - 1 LOVD
+/. 70 c.15178T>C r.(?) p.(Ser5060Pro) - Parent #1 ACMG pathogenic g.215807920A>G g.215634578A>G USH2A c.15178T>C, p.S5060P - USH2A_000890 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF_1421 PubMed: Zhu 2021 family 188, patient SRF_1421 F - China - - - - - 1 LOVD
+/. 70 c.15178T>C r.(?) p.(Ser5060Pro) - Parent #1 ACMG pathogenic g.215807920A>G g.215634578A>G USH2A c.15178T>C, p.S5060P - USH2A_000890 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease AXLM_7 PubMed: Zhu 2021 family 27, patient AXLM_7 M - China - - - - - 1 LOVD
+/. 70 c.15178T>C r.(?) p.(Ser5060Pro) - Parent #1 ACMG pathogenic g.215807920A>G g.215634578A>G USH2A c.15178T>C, p.S5060P - USH2A_000890 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF_1748 PubMed: Zhu 2021 family 51, patient SRF_1748 F - China - - - - - 1 LOVD
+/. 70 c.15178T>C r.(?) p.(Ser5060Pro) - Parent #1 ACMG pathogenic g.215807920A>G g.215634578A>G USH2A c.15178T>C, p.S5060P - USH2A_000890 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF_1752 PubMed: Zhu 2021 family 104, patient SRF_1752 F - China - - - - - 1 LOVD
+/. 70 c.15178T>C r.(?) p.(Ser5060Pro) - Parent #1 ACMG pathogenic g.215807920A>G g.215634578A>G USH2A c.15178T>C, p.S5060P - USH2A_000890 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 975 PubMed: Zhu 2021 family 127, patient 975 F - China - - - - - 1 LOVD
+/. 70 c.15178T>C r.(?) p.(Ser5060Pro) - Parent #1 ACMG pathogenic g.215807920A>G g.215634578A>G USH2A c.15178T>C, p.S5060P - USH2A_000890 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease HSR750 PubMed: Zhu 2021 family 29, patient HSR750 M - China - - - - - 1 LOVD
+/. 70 c.15178T>C r.(?) p.(Ser5060Pro) - Parent #1 ACMG pathogenic g.215807920A>G g.215634578A>G USH2A c.15178T>C, p.S5060P - USH2A_000890 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF1291 PubMed: Zhu 2021 family 117, patient SRF1291 M - China - - - - - 1 LOVD
+/. 70 c.15178T>C r.(?) p.(Ser5060Pro) - Parent #1 ACMG pathogenic g.215807920A>G g.215634578A>G USH2A c.15178T>C, p.S5060P - USH2A_000890 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 19066036 PubMed: Zhu 2021 family 31, patient 19066036 F - China - - - - - 1 LOVD
+/. 70 c.15178T>C r.(?) p.(Ser5060Pro) - Parent #1 ACMG pathogenic g.215807920A>G g.215634578A>G USH2A c.15178T>C, p.S5060P - USH2A_000890 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF1317 PubMed: Zhu 2021 family 84, patient SRF1317 M - China - - - - - 1 LOVD
+/. 70 c.15178T>C r.(?) p.(Ser5060Pro) - Parent #1 ACMG pathogenic g.215807920A>G g.215634578A>G USH2A c.15178T>C, p.S5060P - USH2A_000890 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF1301 PubMed: Zhu 2021 family 13, patient SRF1301 M - China - - - - - 1 LOVD
+/. 70 c.15178T>C r.(?) p.(Ser5060Pro) - Both (homozygous) ACMG pathogenic g.215807920A>G g.215634578A>G USH2A c.15178T>C, p.S5060P - USH2A_000890 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF2189 PubMed: Zhu 2021 family 22*, patient SRF2189 M - China - - - - - 1 LOVD
+/. 70 c.15178T>C r.(?) p.(Ser5060Pro) - Parent #1 ACMG pathogenic g.215807920A>G g.215634578A>G USH2A c.15178T>C, p.S5060P - USH2A_000890 single heterozygous variant in a recessive disesase, no second allele PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF_504 PubMed: Zhu 2021 family 144, patient SRF_504 M - China - - - - - 1 LOVD
+/. 70 c.15178T>C r.(?) p.(Ser5060Pro) - Parent #2 ACMG pathogenic g.215807920A>G g.215634578A>G USH2A c.15178T>C, p.S5060P - USH2A_000890 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease AXLM_6 PubMed: Zhu 2021 family 21, patient AXLM_6 F - China - - - - - 1 LOVD
+/. 70 c.15178T>C r.(?) p.(Ser5060Pro) - Parent #2 ACMG pathogenic g.215807920A>G g.215634578A>G USH2A c.15178T>C, p.S5060P - USH2A_000890 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF1152 PubMed: Zhu 2021 family 20, patient SRF1152 M - China - - - - - 1 LOVD
+?/. - c.15178T>C r.(?) p.(Ser5060Pro) - Parent #2 - likely pathogenic g.215807920A>G g.215634578A>G USH2A c.[820C>T];[15178T>C]; p.(Ser5060Pro) - USH2A_000890 heterozygous PubMed: Chen 2021 - - Germline yes Taiwan Biobank: 0.000989; GnomAD_exome_East: 0.000544; GnomAD_All: 0.0000398 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F013 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+?/. 70 c.15178T>C r.(?) p.(Ser5060Pro) - Both (homozygous) - likely pathogenic g.215807920A>G - c.15178T>C - USH2A_000890 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. - c.15178T>C r.(?) p.(Ser5060Pro) - Unknown - pathogenic g.215807920A>G - - - USH2A_000890 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.15178T>C r.(?) p.(Ser5060Pro) - Unknown ACMG likely pathogenic g.215807920A>G g.215634578A>G - - USH2A_000890 ACMG GN005 criteria: PM2_P PM3_S PP1_P PubMed: Gao, F. J. et al., 2021; PubMed: Lenassi, E. et al., 2015; PubMed: Qu, L. H. et al., 2020; PubMed: Sun, T. et al., 2018; PubMed: Meng, X. et al., 2021; PubMed: Huang, L. et al., 2018; PubMed: Kim, Y. N. et al., 2021; PubMed: Jauregui, R. et al., 2020 - rs752377040 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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