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.

75 entries on 1 page. Showing entries 1 - 75.
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+?/. 19 c.4165del r.(?) p.(Val1389Leufs*43) - Unknown ACMG likely pathogenic g.216369981del g.216196639del USH2A c.4165delG, p.(Val1389Leufs*43) - USH2A_000433 heterozygous PubMed: Dan 2020 - - Germline/De novo (untested) yes - - - - DNA SEQ-NG blood Panel 3 containing 78 genes retinal disease 21 PubMed: Dan 2020 - M ? China - - - - - 1 LOVD
+?/. - c.4165del r.(?) p.(Val1389Leufs*43) - Unknown - likely pathogenic g.216369981del g.216196639del USH2A(NM_206933.2):c.4165delG(p.V1389Lfs*43)/c.11156G>A(p.R3719H) - USH2A_000433 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 175 - - - DNA SEQ-NG-I blood - ? WHP75 PubMed: Sun 2018 - M - China - - - - - 1 LOVD
+/. - c.4165del r.(?) p.(Val1389LeufsTer43) - Unknown ACMG pathogenic g.216369981del g.216196639del 4165delG - USH2A_000433 ACMG GN005 criteria: PVS1_VS PM2_P PM3_P PubMed: Dan, H. et al., 2020 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 57 c.11156G>A r.11156U>A p.Arg3719His - Unknown - likely pathogenic g.215933077C>T g.215759735C>T - - USH2A_000433 - - - rs527236139 Unknown - - - - - DNA SEQ-NG-I - Gene Panel (79 IRD genes) retinal disease IRD4.0_#12 Manuscript under review (González-del Pozo et al., 2018) - ? ? Spain - - - - - 1 María González-del Pozo
+?/? 57 c.11156G>A r.(?) p.(Arg3719His) Fibronectin type-III 22 (3677-3767) Unknown ACMG VUS g.215933077C>T g.215759735C>T - - USH2A_000433 Heterozygous; unknown PubMed: McGee 2010, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ - - RPar - PubMed: McGee 2010 Proband - No genotype in the publication - - United States - - - - - 1 Anne-Françoise Roux
+?/? 57 c.11156G>A r.(?) p.(Arg3719His) Fibronectin type-III 22 (3677-3767) Unknown ACMG VUS g.215933077C>T g.215759735C>T - - USH2A_000433 Heterozygous; mutation PubMed: Chen 2014, USMA missense analysis, missense variant in MSV3d - - Germline - 0/300 controls - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Chen 2014 Proband F - China - - - - - 1 Anne-Françoise Roux
+?/? 57 c.11156G>A r.(?) p.(Arg3719His) Fibronectin type-III 22 (3677-3767) Unknown ACMG VUS g.215933077C>T g.215759735C>T - - USH2A_000433 Heterozygous PubMed: Lenassi 2015, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ - - RPar - PubMed: Lenassi 2015 Proband - - United Kingdom (Great Britain) - - - - - 1 Eva Lenassi
+?/? 57 c.11156G>A r.(?) p.(Arg3719His) Fibronectin type-III 22 (3677-3767) Unknown ACMG VUS g.215933077C>T g.215759735C>T - - USH2A_000433 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
+?/? 57 c.11156G>A r.(?) p.(Arg3719His) Fibronectin type-III 22 (3677-3767) Unknown ACMG VUS g.215933077C>T g.215759735C>T - - USH2A_000433 Heterozygous PubMed: Lenassi 2015, USMA missense analysis, missense variant in MSV3d - - Germline - - - - - DNA SEQ - - RPar - PubMed: Lenassi 2015 Relative - - Canada - - - - - 1 Eva Lenassi
+?/? 57 c.11156G>A r.(?) p.(Arg3719His) Fibronectin type-III 22 (3677-3767) Parent #2 ACMG VUS g.215933077C>T g.215759735C>T - - USH2A_000433 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
+/. - c.11156G>A r.(?) p.(Arg3719His) - Unknown - pathogenic g.215933077C>T g.215759735C>T - - USH2A_000433 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs527236139 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
+/. 57 c.11156G>A r.(?) p.(Arg3719His) - Both (homozygous) - pathogenic g.215933077C>T g.215759735C>T - - USH2A_000433 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs527236139 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+/. - c.11156G>A r.(?) p.(Arg3719His) - Unknown - pathogenic g.215933077C>T g.215759735C>T - - USH2A_000433 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.11156G>A r.(?) p.(Arg3719His) - Parent #1 - pathogenic g.215933077C>T g.215759735C>T - - USH2A_000433 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 4066 PubMed: Zenteno 2020 family - - Mexico - - - - - 1 Johan den Dunnen
+?/. - c.11156G>A r.(?) p.(Arg3719His) - Unknown ACMG likely pathogenic (recessive) g.215933077C>T g.215759735C>T - - USH2A_000433 ACMG PM2_P, PM3_S, PP4 PubMed: Kim 2022, Journal: Kim 2022 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - HL SH325-722 PubMed: Kim 2022, Journal: Kim 2022 - - - Korea, South (Republic) - - - - - 1 So Young Kim
+/. - c.11156G>A r.(?) p.(Arg3719His) - Unknown - pathogenic (recessive) g.215933077C>T - 1:215933077C>T ENST00000307340.3:c.11156G>A (Arg3719His) - USH2A_000433 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G007683 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.11156G>A r.(?) p.(Arg3719His) - Parent #2 ACMG pathogenic (recessive) g.215933077C>T g.215759735C>T - - USH2A_000433 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19124 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+?/. - c.11156G>A r.(?) p.(Arg3719His) - Parent #2 - likely pathogenic g.215933077C>T g.215759735C>T - - USH2A_000433 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 106 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. - c.11156G>A r.(?) p.(Pro5107Ser) - Parent #1 - pathogenic g.215802356G>A g.215629014G>A - - USH2A_000433 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 4613 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+/. - c.11156G>A r.(?) p.(Arg3719His) - Parent #2 - pathogenic g.215933077C>T g.215759735C>T - - USH2A_000433 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 4613 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+?/. - c.11156G>A r.(?) p.(Arg3719His) - Parent #1 - likely pathogenic g.215933077C>T g.215759735C>T - - USH2A_000433 - PubMed: Bravo-Gil 2017 - - Germline - - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat103 PubMed: Bravo-Gil 2017 patient - - Spain - - - - - 1 Nereida Bravo Gil
+?/. - c.11156G>A r.(?) p.(Arg3719His) - Parent #1 - likely pathogenic g.215933077C>T g.215759735C>T - - USH2A_000433 - PubMed: Huang 2018 - - Germline - - - - - DNA SEQ-NG - 283-gene panel retinal disease RP019 PubMed: Huang 2018 - - - - - - - - - 1 LOVD
+?/. 57 c.11156G>A r.(?) p.(Arg3719His) - Parent #2 - likely pathogenic (recessive) g.215933077C>T g.215759735C>T - - USH2A_000433 - PubMed: Yang 2015 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP71 PubMed: Yang 2015 family F - China Han - - - - 1 LOVD
+?/. - c.11156G>A r.(?) p.(Arg3719His) - Parent #2 - likely pathogenic g.215933077C>T g.215759735C>T - - USH2A_000433 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K6357 PubMed: Oishi 2014 family - - Japan - - - - - 1 LOVD
+/. 57 c.11156G>A r.(?) p.(Arg3719His) - Unknown ACMG pathogenic g.215933077C>T g.215759735C>T NM_206933.2:c.11156G>A, NP_996816.2:p.(Arg3719His), NC_000001.10:g.215933077C>T - USH2A_000433 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016103103 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+/. 57 c.11156G>A r.(?) p.(Arg3719His) - Maternal (confirmed) - pathogenic g.215933077C>T g.215759735C>T c.11156G>A; Arg3719Leu: error in annotation, shown variant causes Arg to His substitution - USH2A_000433 - PubMed: Fu 2018 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood Whole-exome sequencing retinal disease D-II-2 PubMed: Fu 2018 - M no China - - - - - 1 LOVD
+/. 57 c.11156G>A r.(?) p.(Arg3719His) - Maternal (confirmed) - pathogenic g.215933077C>T g.215759735C>T c.11156G>A; Arg3719Leu: error in annotation, shown variant causes Arg to His substitution - USH2A_000433 - PubMed: Fu 2018 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood Whole-exome sequencing retinal disease D-II-2 PubMed: Fu 2018 - F no China - - - - - 1 LOVD
+?/. - c.11156G>A r.(?) p.(Arg3719His) - Maternal (confirmed) - likely pathogenic g.215933077C>T g.215759735C>T - - USH2A_000433 - PubMed: Perez-Carro 2018 - - Germline yes - - - - DNA arraySNP blood - retinal disease RP-2372 PubMed: Perez-Carro 2018 family RP-2372 M no Spain - - - - - 1 LOVD
+?/. - c.11156G>A r.(?) p.(Arg3719His) - Paternal (inferred) - likely pathogenic g.215933077C>T g.215759735C>T - - USH2A_000433 - PubMed: Perez-Carro 2018 - - Germline yes - - - - DNA arraySNP blood - retinal disease RP-2372_III:3 PubMed: Perez-Carro 2018 family RP-2372, proband's cousin (two sibships as parents) F no Spain - - - - - 1 LOVD
+/. - c.11156G>A r.(?) p.(Arg3719His) - Unknown - pathogenic g.215933077C>T g.215759735C>T M15: c.11156G > A; p.Arg3719His - USH2A_000433 - PubMed: Gonzalez del Pozo 2018 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG blood solved retinal disease J (II:1) PubMed: Gonzalez del Pozo 2018 - ? no Spain - - - - - 1 LOVD
+?/. - c.11156G>A r.(?) p.(Arg3719His) - Unknown - likely pathogenic g.215933077C>T g.215759735C>T c.11156C>T, p.(Arg3719His) - USH2A_000433 error in annotation: c.11156G>A instead of C>T, compound heterozygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 14751 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+?/. 57 c.11156G>A r.(?) p.(Arg3719His) - Both (homozygous) ACMG likely pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.(Arg3719His) - USH2A_000433 homozygous PubMed: Dan 2020 - - Germline ? - - - - DNA SEQ-NG blood Panel 1 containing 70 genes retinal disease 17 PubMed: Dan 2020 - M ? China - - - - - 1 LOVD
+/. 57 c.11156G>A r.(?) p.(Arg3719His) - Unknown ACMG pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.(Arg3719His) - USH2A_000433 heterozygous PubMed: Dan 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG blood Whole exome sequencing retinal disease 118 PubMed: Dan 2020 - M ? China - - - - - 1 LOVD
+?/. 57 c.11156G>A r.(?) p.(Arg3719His) - Unknown ACMG likely pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.(Arg3719His) - USH2A_000433 heterozygous PubMed: Dan 2020 - - Germline/De novo (untested) yes - - - - DNA SEQ-NG blood Panel 6 containing 386 genes retinal disease 154 PubMed: Dan 2020 - M ? China - - - - - 1 LOVD
+?/. 57 c.11156G>A r.(?) p.(Arg3719His) - Unknown ACMG likely pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.(Arg3719His) - USH2A_000433 heterozygous PubMed: Dan 2020 - - Germline/De novo (untested) yes - - - - DNA SEQ-NG blood Panel 3 containing 78 genes retinal disease 21 PubMed: Dan 2020 - M ? China - - - - - 1 LOVD
+?/. - c.11156G>A r.(?) p.(Arg3719His) - Unknown - likely pathogenic g.215933077C>T g.215759735C>T c.11156G>A, p.Arg3719His - USH2A_000433 Conflicting in silico model predictions, heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI602_001240 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. 57 c.11156G>A r.(?) p.(Arg3719His) - Unknown ACMG likely pathogenic g.215759735C>T g.215759735C>T USH2A c.11156G > A, p.Arg3719His, heterozygous - USH2A_000433 - 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 21 PubMed: Sun 2020 - M - China - - - - - 1 LOVD
+?/. - c.11156G>A r.(?) p.(Arg3719His) - Parent #1 - likely pathogenic g.215933077C>T g.215759735C>T USH2A, variant 1: c.11864G>A/p.W3955*, variant 2: c.11156G>A/p.R3719H - USH2A_000433 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 753 PubMed: Weisschuh 2020 Filing key number: 290, Usher syndrome type 2, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.11156G>A r.(?) p.(Arg3719His) - Unknown - likely pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.Arg3719His - USH2A_000433 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G007683 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.11156G>A r.(?) p.(Arg3719His) - Unknown ACMG VUS g.215933077C>T g.215759735C>T USH2A c.G11156A, p.R3719H - USH2A_000433 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 60 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
+?/. 57 c.11156G>A r.(?) p.(Arg3719His) - Unknown - likely pathogenic (recessive) g.215933077C>T - c.11156G>A - USH2A_000433 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 57 c.11156G>A r.(?) p.(Arg3719His) - Unknown - likely pathogenic (recessive) g.215933077C>T - c.11156G>A - USH2A_000433 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+/. 57 c.11156G>A r.(?) p.(Arg3719His) - Parent #2 ACMG pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.Arg3719His - USH2A_000433 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes USH 21 PubMed: Meng 2020 - M - China - - - - - 1 LOVD
+/. 57 c.11156G>A r.(?) p.(Arg3719His) - Parent #2 ACMG pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.Arg3719His - USH2A_000433 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes USH 36 PubMed: Meng 2020 - F - China - - - - - 1 LOVD
+/. 57 c.11156G>A r.(?) p.(Arg3719His) - Parent #2 ACMG pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.Arg3719His - USH2A_000433 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes retinal disease 42 PubMed: Meng 2020 - M - China - - - - - 1 LOVD
+?/. - c.11156G>A r.(?) p.(Arg3719His) - Parent #2 - likely pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A - USH2A_000433 protein variant annotation not written; heterozygous PubMed: Toms 2020 - - Unknown ? - - - - ? ? - retrospective cohort retinal disease 23 PubMed: Toms 2020 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.11156G>A r.(?) p.(Arg3719His) - Parent #1 - pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.Arg3719His - USH2A_000433 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease R017090110 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+/. - c.11156G>A r.(?) p.(Arg3719His) - Both (homozygous) - pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.Arg3719His - USH2A_000433 homozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease RD17061067 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.11156G>A r.(?) p.(Arg3719His) - Parent #1 - pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.Arg3719His - USH2A_000433 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH RD1808628 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+/. - c.11156G>A r.(?) p.(Arg3719His) - Parent #1 - pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.Arg3719His - USH2A_000433 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH RD180882-1 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.11156G>A r.(?) p.(Arg3719His) - Parent #1 - pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.Arg3719His - USH2A_000433 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease RD19022752 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+/. - c.11156G>A r.(?) p.(Arg3719His) - Parent #1 - pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.Arg3719His - USH2A_000433 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease RD19022795 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.11156G>A r.(?) p.(Arg3719His) - Parent #1 - pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.Arg3719His - USH2A_000433 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH DP18080533 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+/. - c.11156G>A r.(?) p.(Arg3719His) - Parent #2 - pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.Arg3719His - USH2A_000433 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing retinal disease RD18125239 PubMed: Gao 2021 - M - China - - - - - 1 LOVD
+/. - c.11156G>A r.(?) p.(Arg3719His) - Parent #2 - pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.Arg3719His - USH2A_000433 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH RD190400A PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+/. 57 c.11156G>A r.(?) p.(Arg3719His) - Parent #1 ACMG pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.R3719H - USH2A_000433 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease AXLM_16 PubMed: Zhu 2021 family 72, patient AXLM_16 M - China - - - - - 1 LOVD
+/. 57 c.11156G>A r.(?) p.(Arg3719His) - Both (homozygous) ACMG pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.R3719H - USH2A_000433 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease AXLM_13 PubMed: Zhu 2021 family 45, patient AXLM_13 M - China - - - - - 1 LOVD
+/. 57 c.11156G>A r.(?) p.(Arg3719His) - Parent #1 ACMG pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.R3719H - USH2A_000433 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF2102 PubMed: Zhu 2021 family 54, patient SRF2102 M - China - - - - - 1 LOVD
+/. 57 c.11156G>A r.(?) p.(Arg3719His) - Parent #1 ACMG pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.R3719H - USH2A_000433 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 17137994 PubMed: Zhu 2021 family 8, patient 17137994 F - China - - - - - 1 LOVD
+/. 57 c.11156G>A r.(?) p.(Arg3719His) - Parent #1 ACMG pathogenic g.215933077C>T g.215759735C>T USH2A c.G11156A, p.R3719H - USH2A_000433 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF2176 PubMed: Zhu 2021 family 178, patient SRF2176 M - China - - - - - 1 LOVD
+/. 57 c.11156G>A r.(?) p.(Arg3719His) - Parent #1 ACMG pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.R3719H - USH2A_000433 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 42109978 PubMed: Zhu 2021 family 119, patient 42109978 M - China - - - - - 1 LOVD
+/. 57 c.11156G>A r.(?) p.(Arg3719His) - Parent #1 ACMG pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.R3719H - USH2A_000433 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 17137994_1 PubMed: Zhu 2021 family 8, patient 17137994_1 F - China - - - - - 1 LOVD
+/. 57 c.11156G>A r.(?) p.(Arg3719His) - Parent #1 ACMG pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.R3719H - USH2A_000433 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease HSR221 PubMed: Zhu 2021 family 37, patient HSR221 M - China - - - - - 1 LOVD
+/. 57 c.11156G>A r.(?) p.(Arg3719His) - Parent #2 ACMG pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.R3719H - USH2A_000433 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF1288 PubMed: Zhu 2021 family 44, patient SRF1288 M - China - - - - - 1 LOVD
+/. 57 c.11156G>A r.(?) p.(Arg3719His) - Parent #2 ACMG pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.R3719H - USH2A_000433 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 17426176 PubMed: Zhu 2021 family 43, patient 17426176 F - China - - - - - 1 LOVD
+/. 57 c.11156G>A r.(?) p.(Arg3719His) - Parent #2 ACMG pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.R3719H - USH2A_000433 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 784 PubMed: Zhu 2021 family 231, patient 784 F - China - - - - - 1 LOVD
+/. 57 c.11156G>A r.(?) p.(Arg3719His) - Parent #2 ACMG pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.R3719H - USH2A_000433 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 59 PubMed: Zhu 2021 family 228, patient 59 M - China - - - - - 1 LOVD
+/. 57 c.11156G>A r.(?) p.(Arg3719His) - Parent #2 ACMG pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.R3719H - USH2A_000433 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF1363 PubMed: Zhu 2021 family 137, patient SRF1363 F - China - - - - - 1 LOVD
+/. 57 c.11156G>A r.(?) p.(Arg3719His) - Parent #2 ACMG pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.R3719H - USH2A_000433 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease SRF_1414 PubMed: Zhu 2021 family 42, patient SRF_1414 M - China - - - - - 1 LOVD
+/. 57 c.11156G>A r.(?) p.(Arg3719His) - Parent #2 ACMG pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.R3719H - USH2A_000433 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease MEM1015 PubMed: Zhu 2021 family 46, patient MEM1015 M - China - - - - - 1 LOVD
+/. 57 c.11156G>A r.(?) p.(Arg3719His) - Parent #2 ACMG pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.R3719H - USH2A_000433 - PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 17426176_1 PubMed: Zhu 2021 family 43, patient 17426176_1 M - China - - - - - 1 LOVD
+?/. - c.11156G>A r.(?) p.(Arg3719His) - Parent #1 - likely pathogenic g.215933077C>T g.215759735C>T USH2A c.11156G>A, p.(Arg3719His) - USH2A_000433 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.11156G>A r.(?) p.(Arg3719His) - Unknown - likely pathogenic g.215933077C>T g.215759735C>T USH2A(NM_206933.2):c.4165delG(p.V1389Lfs*43)/c.11156G>A(p.R3719H) - USH2A_000433 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 175 - - - DNA SEQ-NG-I blood - ? WHP75 PubMed: Sun 2018 - M - China - - - - - 1 LOVD
+/. 57 c.11156G>A r.(?) p.(Arg3719His) - Parent #1 - pathogenic g.215933077C>T - c.11156G>A - USH2A_000433 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. - c.11156G>A r.(?) p.(Arg3719His) - Unknown ACMG pathogenic g.215933077C>T g.215759735C>T - - USH2A_000433 ACMG GN005 criteria: PM2_P PM3_VS PP1_S PubMed: Gao, F. J. et al., 2021; PubMed: Lenassi, E. et al., 2015; PubMed: Sun, T. et al., 2018; PubMed: Ma, D. J. et al., 2021; PubMed: Meng, X. et al., 2021; PubMed: Bonnet, C. et al., 2016; PubMed: Dan, H. et al., 2020; PubMed: Huang, L. et al., 2018; PubMed: Fu, Y. C. et al., 2018; PubMed: Gonzalez-Del Pozo, M. et al., 2018; PubMed: Chen, X. et al., 2014; PubMed: Kim, Y. N. et al., 2021; PubMed: Sun, Y. et al., 2020; PubMed: Weisschuh, N. et al., 2020; PubMed: Inaba, A. et al., 2020; PubMed: Bravo-Gil, N. et al., 2017 - rs527236139 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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