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.

25 entries on 1 page. Showing entries 1 - 25.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

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Disease     

ID_report     

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Gender     

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Panel size     

Owner     
-/. - c.4758+3A>G r.spl? p.? - Unknown - benign g.216270422T>C g.216097080T>C USH2A(NM_206933.2):c.4758+3A>G, USH2A(NM_206933.4):c.4758+3A>G - USH2A_000906 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 22 c.4758+3A>G r.spl? p.? - Parent #2 ACMG VUS g.216270422T>C g.216097080T>C - - USH2A_000906 Heterozygous; UV3 PubMed: Aparisi 2014 - rs117798425 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Aparisi 2014 Proband - - Spain - - - - - 1 Anne-Françoise Roux
?/. - c.4758+3A>G r.spl? p.? - Unknown - VUS g.216270422T>C g.216097080T>C - - USH2A_000906 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs117798425 Germline - 37/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 37 Yoshito Koyanagi
?/. - c.4758+3A>G r.spl? p.? - Both (homozygous) - VUS g.216270422T>C g.216097080T>C - - USH2A_000906 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs117798425 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.4758+3A>G r.spl? p.? - Unknown - VUS g.216270422T>C g.216097080T>C USH2A(NM_206933.2):c.4758+3A>G, USH2A(NM_206933.4):c.4758+3A>G - USH2A_000906 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4758+3A>G r.spl? p.? - Unknown - likely benign g.216270422T>C g.216097080T>C - - USH2A_000906 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.015 - - - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.4758+3A>G r.spl? p.? - Parent #1 ACMG likely pathogenic (recessive) g.216270422T>C g.216097080T>C - - USH2A_000906 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ - - HL 28017 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+/. 22i c.4758+3A>G r.4758_4759ins[4758+1_4758+107] p.(Gln1586_Gly1587ins5*) - Parent #1 - pathogenic (recessive) g.216270422T>C g.216097080T>C - - USH2A_000906 - PubMed: Fadaie 2021 - - Germline yes - - - - DNA SEQ-NG - - retinal disease Pat24(2) PubMed: Fadaie 2021 - M - Israel - - - - - 1 Zeinab Fadaie
+?/. - c.4758+3A>G r.spl? p.? - Unknown ACMG VUS g.216270422T>C - - - USH2A_000906 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_SH_0024 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+/. - c.4758+3A>G r.spl? p.(?) - Unknown - pathogenic g.216270422T>C g.216097080T>C c.4758+3T>C, p.? - USH2A_000906 compound heterozygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13623 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+?/. 22i c.4758+3A>G r.spl.? p.(?) - Maternal (confirmed) - likely pathogenic g.331317A>G g.216097080T>C c.4758+3A>G - USH2A_000906 compound heterozygous PubMed: Liu 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood - retinal disease RP03-II:1 PubMed: Liu 2020 - F no - - - - - - 1 LOVD
+?/. 22i c.4758+3A>G r.spl.? p.(?) - Unknown - likely pathogenic g.331317A>G g.216097080T>C c.4758+3A>G - USH2A_000906 compound heterozygous PubMed: Liu 2020 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood - retinal disease RP04-II:2 PubMed: Liu 2020 - F no - - - - - - 1 LOVD
+?/. 22i c.4758+3A>G r.spl.? p.(?) - Maternal (confirmed) - likely pathogenic g.331317A>G g.216097080T>C c.4758+3A>G - USH2A_000906 compound heterozygous PubMed: Liu 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood - retinal disease RP03-III:1 PubMed: Liu 2020 daughter of RP03-II:1 F no - - - - - - 1 LOVD
?/. - c.4758+3A>G r.spl? p.(?) - Maternal (confirmed) - likely pathogenic (recessive) g.331317A>G g.216097080T>C c.4758+3A>G - USH2A_000906 compound heterozygous PubMed: Liu 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ - - retinal disease RP01-II:1 PubMed: Liu 2020 Two additional variants were found in USH2A (c.1624A>G p.S542G and c.4758+3A>G) M ? China China - - - - 1 Stéphanie Cornelis
+?/. 22i c.4758+3A>G r.spl? p.? - Unknown - likely pathogenic (recessive) g.216270422T>C - c.4758+3A>G - USH2A_000906 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 22i c.4758+3A>G r.spl? p.? - Unknown - likely pathogenic (recessive) g.216270422T>C - c.4758+3A>G - USH2A_000906 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 22i c.4758+3A>G r.spl? p.? - Unknown - likely pathogenic (recessive) g.216270422T>C - c.4758+3A>G - USH2A_000906 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 22i c.4758+3A>G r.spl? p.? - Unknown - likely pathogenic (recessive) g.216270422T>C - c.4758+3A>G - USH2A_000906 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 22i c.4758+3A>G r.spl? p.(?) - Both (homozygous) ACMG likely pathogenic g.216270422T>C g.216097080T>C USH2A c.4758+3A>G, - - USH2A_000906 homozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes retinal disease 63 PubMed: Meng 2020 - F - China - - - - - 1 LOVD
+/. - c.4758+3A>G r.spl? p.(?) - Parent #2 - pathogenic g.216270422T>C g.216097080T>C USH2A c.4758+3A>G, - - USH2A_000906 heterozygous PubMed: Gao 2021 - - Unknown ? - - - - DNA SEQ-NG - targeted (panel) sequencing USH DP18080533 PubMed: Gao 2021 - F - China - - - - - 1 LOVD
+/. 22i c.4758+3A>G r.spl? p.(?) - Parent #1 ACMG pathogenic g.216270422T>C g.216097080T>C USH2A c.4758+3A>G - USH2A_000906 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 934 PubMed: Zhu 2021 family 234, patient 934 M - China - - - - - 1 LOVD
+/. 22i c.4758+3A>G r.spl? p.(?) - Parent #1 ACMG pathogenic g.216270422T>C g.216097080T>C USH2A c.4758+3A>G - USH2A_000906 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 42816435 PubMed: Zhu 2021 family 163, patient 42816435 M - China - - - - - 1 LOVD
+/. 22i c.4758+3A>G r.spl? p.(?) - Parent #1 ACMG pathogenic g.216270422T>C g.216097080T>C USH2A c.4758+3A>G - USH2A_000906 - PubMed: Zhu 2021 - - Unknown ? - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 1254 PubMed: Zhu 2021 family 236, patient 1254 M - China - - - - - 1 LOVD
+/. 22i c.4758+3A>G r.spl? p.(?) - Unknown ACMG pathogenic g.216270422T>C g.216097080T>C M6: USH2A IVS22+3A>G, Splicing - USH2A_000906 this mutation is reported in ClinVar as likely benign/benign; heterozygous PubMed: Chen 2020 - rs117798425 Unknown ? - - - - DNA SEQ-NG-I blood xGen Exome Research Panel retinal disease 3-II:1 PubMed: Chen 2020 - M - China - - - - - 1 LOVD
-?/. - c.4758+3A>G r.(?) p.(=) - Unknown ACMG likely benign g.216270422T>C g.216097080T>C - - USH2A_000906 ACMG GN005 criteria: BS1_P BS2_S PubMed: Gao, F. J. et al., 2021; PubMed: Sun, T. et al., 2018; PubMed: Aparisi, M. J. et al., 2014 - rs117798425 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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