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.

17372 entries on 174 pages. Showing entries 1 - 100.
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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)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. _57_60_ c.(11047+1_11048-1)_(11711+1_11712-1)[3] r.(?) p.(?) - Parent #2 - likely pathogenic g.? g.? USH2A Exon 57 to 60 -3 copies - NPHS2_000000 heterozygous PubMed: Molina-Ramirez 2020 - - Unknown ? - - - - DNA SEQ-NG-I - 14 patients: 105-gene panel, 13 samples: 176-gene panel using previously described method (O', Sullivan J et al. 2012) USH 10003406 PubMed: Molina-Ramirez 2020 - F - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.(4627+1_4628-1)_(5857+1_5858-1) r.(?) p.(?) - Maternal (confirmed) - likely pathogenic g.? g.? del Ex.22-29 - NPHS2_000000 - PubMed: Perez-Carro 2018 - - Germline yes - - - - DNA MLPA blood - retinal disease RP-1016/RP-982 PubMed: Perez-Carro 2018 family RP-1016/RP-982 M no Spain - - - - - 1 LOVD
+?/. - c.(4627+1_4628-1)_(5857+1_5858-1) r.(?) p.(?) - Maternal (confirmed) - likely pathogenic g.? g.? del Ex.22-29 - NPHS2_000000 - PubMed: Perez-Carro 2018 - - Germline yes - - - - DNA MLPA blood - retinal disease RP-1016/RP-982_II:5 PubMed: Perez-Carro 2018 family RP-1016/RP-982 M no Spain - - - - - 1 LOVD
+?/. 19 c.4217C > r.(?) p.(Ser1406*) - Maternal (confirmed) - likely pathogenic g.216369929G>T g.216196587G>T USH2A c.4217C > A, p.Ser1 - USH2A_001772 heterozygous PubMed: He 2020 - - Germline yes - - - - DNA SEQ blood - USH 2 PubMed: He 2020 - M - China - - - - - 1 LOVD
+?/. 42 c.8232G > r.(?) p.(Trp2744Cys) - Unknown - likely pathogenic g.216052432C>G g.215879090C>G USH2A c.8232G > C, p.Trp274 - USH2A_000743 heterozygous PubMed: He 2020 - - Unknown ? - - - - DNA SEQ blood - USH 4 PubMed: He 2020 - F - China - - - - - 1 LOVD
+?/. 42i c.8559-2A > r.(?) p.(?) - Paternal (confirmed) - likely pathogenic g.216051224T>C g.215877882T>C USH2A c.8559-2A >  - USH2A_000003 single heterozygous variant in a recessive gene PubMed: He 2020 - - Germline ? - - - - DNA SEQ blood - USH 1 PubMed: He 2020 - M - China - - - - - 1 LOVD
+?/. 42i c.8559-2A > r.(?) p.(?) - Unknown - likely pathogenic g.216051224T>C g.215877882T>C USH2A c.8559-2A >  - USH2A_000003 heterozygous PubMed: He 2020 - - Unknown ? - - - - DNA SEQ blood - USH 4 PubMed: He 2020 - F - China - - - - - 1 LOVD
-/- _1 c.-2202C>T r.(=) p.(=) - Paternal (inferred) - benign g.216598553G>A g.216425211G>A - - USH2A_000806 Homozygous PubMed: Baux 2014 - rs4323773 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Baux 2014 Proband M - Haiti - - - - - 1 Anne-Françoise Roux
-/- _1 c.-2202C>T r.(=) p.(=) - Maternal (inferred) - benign g.216598553G>A g.216425211G>A - - USH2A_000806 Homozygous PubMed: Baux 2014 - rs4323773 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Baux 2014 Proband M - Haiti - - - - - 1 Anne-Françoise Roux
-/- _1 c.-2202C>T r.(=) p.(=) - Paternal (inferred) - benign g.216598553G>A g.216425211G>A - - USH2A_000806 Homozygous PubMed: Baux 2014 - rs4323773 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Baux 2014 Proband F - - - - - - - 1 Anne-Françoise Roux
-/- _1 c.-2202C>T r.(=) p.(=) - Maternal (inferred) - benign g.216598553G>A g.216425211G>A - - USH2A_000806 Homozygous PubMed: Baux 2014 - rs4323773 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Baux 2014 Proband F - - - - - - - 1 Anne-Françoise Roux
-/- _1 c.-2202C>T r.(=) p.(=) - Paternal (inferred) - benign g.216598553G>A g.216425211G>A - - USH2A_000806 Homozygous PubMed: Baux 2014 - rs4323773 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Baux 2014 Proband - unclear USH phenotype M - France - - - - - 1 Anne-Françoise Roux
-/- _1 c.-2202C>T r.(=) p.(=) - Maternal (inferred) - benign g.216598553G>A g.216425211G>A - - USH2A_000806 Homozygous PubMed: Baux 2014 - rs4323773 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Baux 2014 Proband - unclear USH phenotype M - France - - - - - 1 Anne-Françoise Roux
-/- _1 c.-2202C>T r.(=) p.(=) - Paternal (inferred) - benign g.216598553G>A g.216425211G>A - - USH2A_000806 Homozygous PubMed: Baux 2014 - rs4323773 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- _1 c.-2202C>T r.(=) p.(=) - Maternal (inferred) - benign g.216598553G>A g.216425211G>A - - USH2A_000806 Homozygous PubMed: Baux 2014 - rs4323773 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- _1 c.-1707A>G r.(=) p.(=) - Paternal (inferred) - benign g.216598058T>C g.216424716T>C - - USH2A_000807 Homozygous PubMed: Baux 2014 - rs11117574 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Baux 2014 Proband M - Haiti - - - - - 1 Anne-Françoise Roux
-/- _1 c.-1707A>G r.(=) p.(=) - Maternal (inferred) - benign g.216598058T>C g.216424716T>C - - USH2A_000807 Homozygous PubMed: Baux 2014 - rs11117574 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Baux 2014 Proband M - Haiti - - - - - 1 Anne-Françoise Roux
-/- _1 c.-1707A>G r.(=) p.(=) - Paternal (inferred) - benign g.216598058T>C g.216424716T>C - - USH2A_000807 Homozygous PubMed: Baux 2014 - rs11117574 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Baux 2014 Proband F - - - - - - - 1 Anne-Françoise Roux
-/- _1 c.-1707A>G r.(=) p.(=) - Maternal (inferred) - benign g.216598058T>C g.216424716T>C - - USH2A_000807 Homozygous PubMed: Baux 2014 - rs11117574 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Baux 2014 Proband F - - - - - - - 1 Anne-Françoise Roux
-/- _1 c.-1707A>G r.(=) p.(=) - Paternal (inferred) - benign g.216598058T>C g.216424716T>C - - USH2A_000807 Homozygous PubMed: Baux 2014 - rs11117574 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Baux 2014 Proband - unclear USH phenotype M - France - - - - - 1 Anne-Françoise Roux
-/- _1 c.-1707A>G r.(=) p.(=) - Maternal (inferred) - benign g.216598058T>C g.216424716T>C - - USH2A_000807 Homozygous PubMed: Baux 2014 - rs11117574 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Baux 2014 Proband - unclear USH phenotype M - France - - - - - 1 Anne-Françoise Roux
-/- _1 c.-1707A>G r.(=) p.(=) - Paternal (inferred) - benign g.216598058T>C g.216424716T>C - - USH2A_000807 Homozygous PubMed: Baux 2014 - rs11117574 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- _1 c.-1707A>G r.(=) p.(=) - Maternal (inferred) - benign g.216598058T>C g.216424716T>C - - USH2A_000807 Homozygous PubMed: Baux 2014 - rs11117574 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- _1 c.-1689C>A r.(=) p.(=) - Paternal (inferred) - benign g.216598040G>T g.216424698G>T - - USH2A_000808 Homozygous PubMed: Baux 2014 - rs10863240 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Baux 2014 Proband M - Haiti - - - - - 1 Anne-Françoise Roux
-/- _1 c.-1689C>A r.(=) p.(=) - Maternal (inferred) - benign g.216598040G>T g.216424698G>T - - USH2A_000808 Homozygous PubMed: Baux 2014 - rs10863240 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Baux 2014 Proband M - Haiti - - - - - 1 Anne-Françoise Roux
-/- _1 c.-1689C>A r.(=) p.(=) - Paternal (inferred) - benign g.216598040G>T g.216424698G>T - - USH2A_000808 Homozygous PubMed: Baux 2014 - rs10863240 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Baux 2014 Proband F - - - - - - - 1 Anne-Françoise Roux
-/- _1 c.-1689C>A r.(=) p.(=) - Maternal (inferred) - benign g.216598040G>T g.216424698G>T - - USH2A_000808 Homozygous PubMed: Baux 2014 - rs10863240 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Baux 2014 Proband F - - - - - - - 1 Anne-Françoise Roux
-/- _1 c.-1689C>A r.(=) p.(=) - Paternal (inferred) - benign g.216598040G>T g.216424698G>T - - USH2A_000808 Homozygous PubMed: Baux 2014 - rs10863240 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Baux 2014 Proband - unclear USH phenotype M - France - - - - - 1 Anne-Françoise Roux
-/- _1 c.-1689C>A r.(=) p.(=) - Maternal (inferred) - benign g.216598040G>T g.216424698G>T - - USH2A_000808 Homozygous PubMed: Baux 2014 - rs10863240 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Baux 2014 Proband - unclear USH phenotype M - France - - - - - 1 Anne-Françoise Roux
-/- _1 c.-1689C>A r.(=) p.(=) - Paternal (inferred) - benign g.216598040G>T g.216424698G>T - - USH2A_000808 Homozygous PubMed: Baux 2014 - rs10863240 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- _1 c.-1689C>A r.(=) p.(=) - Maternal (inferred) - benign g.216598040G>T g.216424698G>T - - USH2A_000808 Homozygous PubMed: Baux 2014 - rs10863240 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- _1 c.-1408T>C r.(=) p.(=) - Paternal (inferred) - benign g.216597759A>G g.216424417A>G - - USH2A_000809 Homozygous PubMed: Baux 2014 - rs11117573 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Baux 2014 Proband M - Haiti - - - - - 1 Anne-Françoise Roux
-/- _1 c.-1408T>C r.(=) p.(=) - Maternal (inferred) - benign g.216597759A>G g.216424417A>G - - USH2A_000809 Homozygous PubMed: Baux 2014 - rs11117573 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Baux 2014 Proband M - Haiti - - - - - 1 Anne-Françoise Roux
-/- _1 c.-1408T>C r.(=) p.(=) - Paternal (inferred) - benign g.216597759A>G g.216424417A>G - - USH2A_000809 Homozygous PubMed: Baux 2014 - rs11117573 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Baux 2014 Proband F - - - - - - - 1 Anne-Françoise Roux
-/- _1 c.-1408T>C r.(=) p.(=) - Maternal (inferred) - benign g.216597759A>G g.216424417A>G - - USH2A_000809 Homozygous PubMed: Baux 2014 - rs11117573 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Baux 2014 Proband F - - - - - - - 1 Anne-Françoise Roux
-/- _1 c.-1408T>C r.(=) p.(=) - Paternal (inferred) - benign g.216597759A>G g.216424417A>G - - USH2A_000809 Homozygous PubMed: Baux 2014 - rs11117573 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Baux 2014 Proband - unclear USH phenotype M - France - - - - - 1 Anne-Françoise Roux
-/- _1 c.-1408T>C r.(=) p.(=) - Maternal (inferred) - benign g.216597759A>G g.216424417A>G - - USH2A_000809 Homozygous PubMed: Baux 2014 - rs11117573 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Baux 2014 Proband - unclear USH phenotype M - France - - - - - 1 Anne-Françoise Roux
-/- _1 c.-1408T>C r.(=) p.(=) - Paternal (inferred) - benign g.216597759A>G g.216424417A>G - - USH2A_000809 Homozygous PubMed: Baux 2014 - rs11117573 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- _1 c.-1408T>C r.(=) p.(=) - Maternal (inferred) - benign g.216597759A>G g.216424417A>G - - USH2A_000809 Homozygous PubMed: Baux 2014 - rs11117573 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
+/. - c.(?_-387)_417del r.(?) p.(?) - Unknown ACMG pathogenic g.(?_216421920)_216423396del - - - USH2A_002336 - PubMed: Mansard et al, 2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.(?_-387)_(784+1_785-1)del r.(?) p.(?) - Unknown ACMG pathogenic g.(216327655_216364952)_(216423396_?)del - - - USH2A_002322 - PubMed: Mansard et al, 2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
?/. - c.(-205+1_-204-1)_(485+1_486-1)del r.spl p.(?) - Maternal (confirmed) - VUS g.? g.? USH2A nucleotide 1, protein 1:exon 2 del, p.? nucleotide 2, protein 2:c.6289_6302del, p.Ile2097* - USH2A_000391 heterozygous, ACMG unclassified - no access to supplementary table 2 PubMed: Hull 2020 - - Germline ? - - - - DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families retinal disease 68 PubMed: Hull 2020 - ? - New Zealand white - - - - 1 LOVD
+/. 4i_9i c.(784+1_749-1)_(1644++1_1645-1)del r.? p.? - Parent #2 - pathogenic (recessive) g.? - del ex5_9 - USH2A_000000 {PMID:Garcia-Garcia 2014:25352746}, {PMID:Fuster-Garcia 2018:30459346} - - - Germline - - - - - DNA SEQ - - USH2 RP1638 PubMed: Garcia-Garcia 2011 Proband M - Spain - - - - - 1 Jose Maria Millan
+/. 62i_72_ c.12295-1604_*2887{0}ins12295-1599_*2887{1}inv r.? p.? - Parent #2 - pathogenic (recessive) g.42494167_215850562delins42494188_215850557inv g.42320825_215677220delins42320846_215677215inv hg38:g.42320825_215677220delins42320846_215677215inv - USH2A_002864 - PubMed: De Bruijn 2023 - - Germline yes - - - - DNA SEQ-NG blood Published as WGS USH2 DNA12-20087 PubMed: de Bruijn 2023 - - - - - - - - - 1 Suzanne de Bruijn
+/. 69i_72_ c.15052+1673_*2887{1}inv r.? p.? - Parent #1 ACMG pathogenic (recessive) g.209988910_215810824del g.209815568_215637482inv hg38: - USH2A_002863 - PubMed: de Bruijn 2023 - - Germline yes - - - - DNA SEQ-NG blood Published as WGS USH2 DNA09-00327 PubMed: de Bruijn 2023 - - - - - - - - - 1 Suzanne de Bruijn
+?/. 21i_49i c.? r.? p.? - Parent #2 - likely pathogenic (recessive) g.? - Del. exons 22–49 - NPHS2_000000 - PubMed: Fuster-Garcia 2018 - - Germline - - - - - DNA arraySEQ - - retinal disease RP1495t PubMed: Fuster-Garcia 2018 analysis 77 USH patients - - Spain - - - - - 1 Global Variome, with Curator vacancy
+?/. 27i_30i c.? r.? p.? - Parent #2 - likely pathogenic (recessive) g.? - Dup. exons 28–30 - NPHS2_000000 - PubMed: Fuster-Garcia 2018 - - Germline - - - - - DNA arraySEQ - - retinal disease RP1888t PubMed: Fuster-Garcia 2018 analysis 77 USH patients - - Spain - - - - - 1 Global Variome, with Curator vacancy
+/. - c.? r.? p.? - Parent #2 ACMG pathogenic (recessive) g.? - c.11381+1delG - USH2A_000000 variant unknown, no splice site at c.11381+1 PubMed: Sun 2018 - - Germline - - - - - DNA SEQ - - HL 19758 PubMed: Sun 2018 family - no China - - - - - 1 LOVD
+?/. 22i_32i c.? r.? p? - Both (homozygous) - likely pathogenic (recessive) g.? - del ex23-32 - NPHS2_000000 - PubMed: Eandi 2017 - - Germline yes - - - - DNA SEQ-NG - 11-gene panel retinal disease Fam6PatTO7 PubMed: Eandi 2017 - F - Italy - - - - - 1 LOVD
+?/. 30i_35i c.? r.? p? - Parent #1 - likely pathogenic (recessive) g.? - del ex31-35 - NPHS2_000000 - PubMed: Eandi 2017 - - Germline - - - - - DNA SEQ-NG - 11-gene panel retinal disease Fam7PatTO8 PubMed: Eandi 2017 - M - Italy - - - - - 1 LOVD
+?/. 22i_32i c.? r.? p? - Parent #1 - likely pathogenic (recessive) g.? - del ex23-32 - NPHS2_000000 - PubMed: Eandi 2017 - - Germline yes - - - - DNA SEQ-NG - 11-gene panel retinal disease Fam8PatTO9 PubMed: Eandi 2017 2-generation family, 2 affected M - Italy - - - - - 2 LOVD
+?/. 22i_32i c.? r.? p? - Parent #1 - likely pathogenic (recessive) g.? - del ex23-32 - NPHS2_000000 - PubMed: Eandi 2017 - - Germline yes - - - - DNA SEQ-NG - 11-gene panel retinal disease Fam8PatTO10 PubMed: Eandi 2017 sister F - Italy - - - - - 1 LOVD
+?/. - c.? r.? p.? - Parent #1 - likely pathogenic g.? - del 20 at CD62 - NPHS2_000000 - PubMed: Huang 2018 - - Germline - - - - - DNA SEQ-NG - 283-gene panel retinal disease RP062 PubMed: Huang 2018 - - - - - - - - - 1 LOVD
+/. - c.? r.? p.? - Parent #2 - pathogenic g.? - p.Val218Glu - NPHS2_000000 - PubMed: Carrigan 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease - PubMed: Carrigan 2016 - - - Ireland - - - - - 1 LOVD
+/. - c.? r.? p.(C3425Ffs*4) - Parent #1 - pathogenic g.? - 10272_10273dupA - NPHS2_000000 - PubMed: Bravo-Gil 2016 - - Germline - - - - - DNA SEQ-NG - 64-gene panel retinal disease 356 PubMed: Bravo-Gil 2016 see paper - - Spain - - - - - 1 LOVD
+?/. - c.? r.? p.? - Parent #2 - likely pathogenic g.? - del ex45-49 - NPHS2_000000 - PubMed: Perez-Carro 2016 - - Germline - - - - - DNA MLPA, SEQ-NG - gene panel retinal disease RP-2112 PubMed: Perez-Carro 2016 - - - Spain - - - - - 1 LOVD
+/. - c.? r.? p.? - Both (homozygous) - pathogenic g.? - del ex14 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline yes - - - - DNA MLPA, SEQ - - USH Pat61 PubMed: Neuhaus 2017 - - - Syria - - - - - 1 LOVD
+/. - c.? r.? p.? - Both (homozygous) - pathogenic g.? - del ex45-47 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline - - - - - DNA SEQ-NG - gene panel USH Pat120 PubMed: Neuhaus 2017 - - yes Syria - - - - - 1 LOVD
+/. - c.? r.? p.? - Both (homozygous) - pathogenic g.? - del ex48 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline yes - - - - DNA MLPA, SEQ - - USH Pat39 PubMed: Neuhaus 2017 - - - Turkey - - - - - 1 LOVD
+?/. - c.? r.? p.? - Parent #2 - likely pathogenic g.? - del ex38-41 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline - - - - - DNA MLPA, SEQ - - USH Pat41 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. - c.? r.? p.? - Parent #2 - pathogenic g.? - del ex22-24 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline - - - - - DNA MLPA, SEQ - - USH Pat44 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. - c.? r.? p.? - Parent #2 - pathogenic g.? - del ex15-21 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline yes - - - - DNA SEQ-NG - gene panel USH Pat78 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. - c.? r.? p.? - Parent #2 - pathogenic g.? - del ex22-24 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline yes - - - - DNA MLPA, SEQ - - USH Pat71 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+?/. - c.? r.? p.? - Parent #2 - likely pathogenic g.? - del ex5-11 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline - - - - - DNA MLPA, SEQ - - USH Pat35 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. - c.? r.? p.? - Parent #2 - pathogenic g.? - del ex22-24 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline - - - - - DNA MLPA, SEQ - - USH Pat112 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. - c.? r.? p.? - Parent #2 - pathogenic g.? - del ex10-11 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline - - - - - DNA SEQ-NG - gene panel USH Pat129 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+?/. - c.? r.? p.? - Parent #2 - likely pathogenic g.? - dup ex4 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline - - - - - DNA MLPA, SEQ - - USH Pat20 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. - c.? r.? p.? - Parent #2 - pathogenic g.? - del ex22-24 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline - - - - - DNA MLPA, SEQ - - USH Pat16 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. - c.? r.? p.? - Parent #2 - pathogenic g.? - del ex22-24 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline yes - - - - DNA MLPA, SEQ - - USH Pat113 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. - c.? r.? p.? - Parent #1 - pathogenic (recessive) g.? - c.1340A> - NPHS2_000000 - PubMed: Xu 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP337 PubMed: Xu 2014 - M - China - - - - - 1 LOVD
?/. - c.? r.(?) p.? - Unknown - VUS g.? - (Lys1501Arg) - NPHS2_000000 unknown variant 2nd chromosome PubMed: Mezer-2006 - - Germline - - - - - DNA SSCA, PCR, SEQ - - retinal disease - PubMed: Mezer-2006 - - - Canada Canadian - - - - 1 LOVD
+?/. - c.? r.0? p.0? - Unknown - likely pathogenic g.216240159_222780953del - chr1:g.216240159_222780953del - USH2A_000000 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001037 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.? r.0? p.0? - Unknown - likely pathogenic g.216259365_216318209del - chr1:g.216259365_216318209del - USH2A_000000 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.? r.0? p.0? - Unknown - likely pathogenic g.215958623_215961591del - chr1:g.215958623_215961591del - USH2A_000000 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G005258 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.? r.0? p.0? - Unknown - likely pathogenic g.216009683_216011948del - chr1:g.216009683_216011948del - USH2A_000000 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G008167 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+?/. - c.? r.0? p.0? - Unknown - likely pathogenic g.215836170_215851932del - chr1:g.215836170_215851932del - USH2A_000000 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease W000148 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+?/. 2 c.? r.(?) p.? - Unknown - likely pathogenic g.? - p.W3955* - USH2A_000000 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+?/. 2 c.? r.(?) p.? - Unknown - likely pathogenic g.? - p.Q2201* - USH2A_000000 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+?/. 2 c.? r.(?) p.? - Unknown - likely pathogenic g.? - p.W2133* - USH2A_000000 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+?/. 2 c.? r.(?) p.? - Unknown - likely pathogenic g.? - p.R4935* - USH2A_000000 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+?/. 2 c.? r.(?) p.? - Unknown - likely pathogenic g.? - R1281* - USH2A_000000 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+?/. 2 c.? r.(?) p.? - Both (homozygous) - likely pathogenic g.? - p.W3955* - USH2A_000000 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+?/. 2 c.? r.(?) p.? - Unknown - likely pathogenic g.? - p.G3142* - USH2A_000000 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
-?/. - c.? r.(?) p.(Phe12Serfs*9) - Unknown - likely benign g.? - p.Ile2627fs - NPHS2_000000 - PubMed: Bhatia 2019 - - Germline no - - - - DNA SEQ-NG, SEQ blood - retinal disease IV:1 PubMed: Bhatia 2019 - F yes - India - - - - 1 LOVD
?/. - c.? r.(?) p.(?) - Parent #1 ACMG VUS g.? g.? USH2A,1 hit - NPHS2_000000 single heterozygous variant in a recessive disesase, no second allele, variant not really described PubMed: Zhu 2021 - - Germline yes - - - - DNA SEQ-NG-I blood targeted sequencing retinal disease 18981781 PubMed: Zhu 2021 family 142, patient 18981781 M - China - - - - - 1 LOVD
+?/. - c.? r.(?) p.(?) - Parent #2 - likely pathogenic g.? g.? USH2A exon 1-20 deletion - NPHS2_000000 no protein annotation written; heterozygous PubMed: Charng 2020 - - Germline yes - - - - DNA SEQ-NG-I blood NGS SmartPanel (version 4 or 7, 183 or 233 genes) retinal disease 17 PubMed: Charng 2020 - F - Australia - - - - - 1 LOVD
?/. - c.1A>G r.(?) p.(Met1?) - Unknown - VUS g.216595678T>C g.216422336T>C - - USH2A_001683 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 22i c.22+3A>G r.spl? p.(Gly9=) - Parent #2 - pathogenic g.216595654C= g.216422312C= USH2A c.22+3A>G, - - USH2A_002496 heterozygous PubMed: Qu 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood 103 known RD genes panel retinal disease RP F2-II-1 PubMed: Qu 2020 - F - - - - - - - 1 LOVD
+/. 22i c.22+3A>G r.spl? p.(Gly9=) - Maternal (confirmed) - pathogenic g.216595654C= g.216422312C= USH2A c.22+3A>G, - - USH2A_002496 heterozygous PubMed: Qu 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood 103 known RD genes panel retinal disease RP F5-II-2 PubMed: Qu 2020 - M - - - - - - - 1 LOVD
+?/. - c.55del r.(?) p.(Met19Cysfs*2) - Parent #1 - likely pathogenic g.216595626del g.216422284del USH2A, variant 1: c.12295-3T>A/p.?, variant 2: c.55del/p.M19Cfs*2 - USH2A_002410 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 1174 PubMed: Weisschuh 2020 Filing key number: 851, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+/. - c.55del r.(?) p.(Met19CysfsTer2) - Unknown ACMG pathogenic g.216595626del g.216422284del 55delA - USH2A_002410 ACMG GN005 criteria: PVS1_VS PM2_P PM3_P PubMed: Weisschuh, N. et al., 2020 - rs2039692173 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.55del r.(?) p.(Met19CysfsTer2) - Unknown ACMG pathogenic (recessive) g.216595626del g.216422284del - - USH2A_002410 ACMG PM2, PVS1, PP5; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CRD-635 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
?/. - c.60G>C r.(?) p.(Leu20Phe) - Unknown - VUS g.216595619C>G g.216422277C>G USH2A(NM_206933.4):c.60G>C (p.L20F) - USH2A_001682 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.72T>G r.(?) p.(Tyr24*) Signal peptide (1-31) Paternal (inferred) - pathogenic g.216595607A>C g.216422265A>C - - USH2A_000734 Homozygous PubMed: Baux 2014 - - Germline - - +BfaI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 2 c.72T>G r.(?) p.(Tyr24*) Signal peptide (1-31) Maternal (inferred) - pathogenic g.216595607A>C g.216422265A>C - - USH2A_000734 Homozygous PubMed: Baux 2014 - - Germline - - +BfaI - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/. - c.78T>C r.(?) p.(Ala26=) - Unknown - benign g.216595601A>G g.216422259A>G USH2A(NM_206933.2):c.78T>C (p.A26=), USH2A(NM_206933.4):c.78T>C (p.A26=) - USH2A_001681 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.78T>C r.(?) p.(Ala26=) - Unknown - likely benign g.216595601A>G - USH2A(NM_206933.2):c.78T>C (p.A26=), USH2A(NM_206933.4):c.78T>C (p.A26=) - USH2A_001681 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.80C>A r.(?) p.(Ser27*) - Unknown ACMG pathogenic g.216595599G>T g.216422257G>T NM_206933.2:c.80C>A, NP_996816.2:p.(Ser27Ter), NC_000001.10:g.216595599G>T - USH2A_002149 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016041901 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+?/. 2 c.80C>A r.(?) p.(Ser27*) - Parent #2 ACMG likely pathogenic g.216595599G>T g.216422257G>T USH2A c.80C>A, p.Ser27* - USH2A_002149 heterozygous PubMed: Meng 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood hereditary eye disease enrichment panel (HEDEP) - 441 genes covering 14 Usher genes USH 34 PubMed: Meng 2020 - M - China - - - - - 1 LOVD
+/. - c.80C>A r.(?) p.(Ser27Ter) - Unknown ACMG pathogenic g.216595599G>T g.216422257G>T - - USH2A_002149 ACMG GN005 criteria: PVS1_VS PM2_P PM3_M PubMed: Meng, X. et al., 2021 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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