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.

11187 entries on 112 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     
+/. - c.1841-2 A>G r.spl p.(Gly614Aspfs*6) - Both (homozygous) - pathogenic (recessive) g.216462754T>C - - - USH2A_001781 - PubMed: Santana 2019 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 14 gene panel USH FamUS-16 PubMed: Santana 2019 3-generation family, 4 affected (2F, 2M), unaffected parents - - Cuba white - 0 - - 4 Global Variome, with Curator vacancy
+?/. 21i_49i c.? r.? p.? - Parent #2 - likely pathogenic (recessive) g.? - Del. exons 22–49 - NPHS2_000000 - PubMed: Fuster-Garcia 2018 - - Germline - - - 0 - DNA arraySEQ - - retinal disease RP1495t PubMed: Fuster-Garcia 2018 analysis 77 USH patients - - Spain - - 0 - - 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 - - - 0 - DNA arraySEQ - - retinal disease RP1888t PubMed: Fuster-Garcia 2018 analysis 77 USH patients - - Spain - - 0 - - 1 Global Variome, with Curator vacancy
+?/. 22i_32i c.? r.? p? - Both (homozygous) - likely pathogenic (recessive) g.? - del ex23-32 - NPHS2_000000 - PubMed: Eandi 2017 - - Germline yes - - 0 - DNA SEQ-NG - 11-gene panel retinal disease Fam6PatTO7 PubMed: Eandi 2017 - F - Italy - - 0 - - 1 -
+?/. 30i_35i c.? r.? p? - Parent #1 - likely pathogenic (recessive) g.? - del ex31-35 - NPHS2_000000 - PubMed: Eandi 2017 - - Germline - - - 0 - DNA SEQ-NG - 11-gene panel retinal disease Fam7PatTO8 PubMed: Eandi 2017 - M - Italy - - 0 - - 1 -
+?/. 22i_32i c.? r.? p? - Parent #1 - likely pathogenic (recessive) g.? - del ex23-32 - NPHS2_000000 - PubMed: Eandi 2017 - - Germline yes - - 0 - DNA SEQ-NG - 11-gene panel retinal disease Fam8PatTO9 PubMed: Eandi 2017 2-generation family, 2 affected M - Italy - - 0 - - 2 -
+?/. 22i_32i c.? r.? p? - Parent #1 - likely pathogenic (recessive) g.? - del ex23-32 - NPHS2_000000 - PubMed: Eandi 2017 - - Germline yes - - 0 - DNA SEQ-NG - 11-gene panel retinal disease Fam8PatTO10 PubMed: Eandi 2017 sister F - Italy - - 0 - - 1 -
+?/. - c.? r.? p.? - Parent #1 - likely pathogenic g.? - del 20 at CD62 - NPHS2_000000 - PubMed: Huang 2018 - - Germline - - - 0 - DNA SEQ-NG - 283-gene panel retinal disease RP062 PubMed: Huang 2018 - - - - - - 0 - - 1 -
+/. - c.? r.? p.? - Parent #2 - pathogenic g.? - p.Val218Glu - NPHS2_000000 - PubMed: Carrigan 2016 - - Germline - - - 0 - DNA SEQ-NG - gene panel retinal disease - PubMed: Carrigan 2016 - - - Ireland - - 0 - - 1 -
+/. - c.? r.? p.(C3425Ffs*4) - Parent #1 - pathogenic g.? - 10272_10273dupA - NPHS2_000000 - PubMed: Bravo-Gil 2016 - - Germline - - - 0 - DNA SEQ-NG - 64-gene panel retinal disease 356 PubMed: Bravo-Gil 2016 see paper - - Spain - - 0 - - 1 -
+?/. - c.? r.? p.? - Parent #2 - likely pathogenic g.? - del ex45-49 - NPHS2_000000 - PubMed: Perez-Carro 2016 - - Germline - - - 0 - DNA MLPA, SEQ-NG - gene panel retinal disease RP-2112 PubMed: Perez-Carro 2016 - - - Spain - - 0 - - 1 -
+/. - c.? r.? p.? - Both (homozygous) - pathogenic g.? - del ex14 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline yes - - 0 - DNA MLPA, SEQ - - USH Pat61 PubMed: Neuhaus 2017 - - - Syria - - 0 - - 1 -
+/. - c.? r.? p.? - Both (homozygous) - pathogenic g.? - del ex45-47 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline - - - 0 - DNA SEQ-NG - gene panel USH Pat120 PubMed: Neuhaus 2017 - - yes Syria - - 0 - - 1 -
+/. - c.? r.? p.? - Both (homozygous) - pathogenic g.? - del ex48 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline yes - - 0 - DNA MLPA, SEQ - - USH Pat39 PubMed: Neuhaus 2017 - - - Turkey - - 0 - - 1 -
+?/. - c.? r.? p.? - Parent #2 - likely pathogenic g.? - del ex38-41 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline - - - 0 - DNA MLPA, SEQ - - USH Pat41 PubMed: Neuhaus 2017 - - no Germany - - 0 - - 1 -
+/. - c.? r.? p.? - Parent #2 - pathogenic g.? - del ex22-24 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline - - - 0 - DNA MLPA, SEQ - - USH Pat44 PubMed: Neuhaus 2017 - - no Germany - - 0 - - 1 -
+/. - c.? r.? p.? - Parent #2 - pathogenic g.? - del ex15-21 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline yes - - 0 - DNA SEQ-NG - gene panel USH Pat78 PubMed: Neuhaus 2017 - - no Germany - - 0 - - 1 -
+/. - c.? r.? p.? - Parent #2 - pathogenic g.? - del ex22-24 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline yes - - 0 - DNA MLPA, SEQ - - USH Pat71 PubMed: Neuhaus 2017 - - no Germany - - 0 - - 1 -
+?/. - c.? r.? p.? - Parent #2 - likely pathogenic g.? - del ex5-11 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline - - - 0 - DNA MLPA, SEQ - - USH Pat35 PubMed: Neuhaus 2017 - - no Germany - - 0 - - 1 -
+/. - c.? r.? p.? - Parent #2 - pathogenic g.? - del ex22-24 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline - - - 0 - DNA MLPA, SEQ - - USH Pat112 PubMed: Neuhaus 2017 - - no Germany - - 0 - - 1 -
+/. - c.? r.? p.? - Parent #2 - pathogenic g.? - del ex10-11 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline - - - 0 - DNA SEQ-NG - gene panel USH Pat129 PubMed: Neuhaus 2017 - - no Germany - - 0 - - 1 -
+?/. - c.? r.? p.? - Parent #2 - likely pathogenic g.? - dup ex4 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline - - - 0 - DNA MLPA, SEQ - - USH Pat20 PubMed: Neuhaus 2017 - - no Germany - - 0 - - 1 -
+/. - c.? r.? p.? - Parent #2 - pathogenic g.? - del ex22-24 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline - - - 0 - DNA MLPA, SEQ - - USH Pat16 PubMed: Neuhaus 2017 - - no Germany - - 0 - - 1 -
+/. - c.? r.? p.? - Parent #2 - pathogenic g.? - del ex22-24 - NPHS2_000000 - PubMed: Neuhaus 2017 - - Germline yes - - 0 - DNA MLPA, SEQ - - USH Pat113 PubMed: Neuhaus 2017 - - no Germany - - 0 - - 1 -
-/- _1 c.-2202C>T r.(=) p.(=) - Paternal (inferred) - benign g.216598553G>A g.216425211G>A - - USH2A_000806 Homozygous PubMed: Baux 2014 - rs4323773 Germline - - - 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Baux 2014 Proband M - Haiti - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Baux 2014 Proband M - Haiti - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-1 - PubMed: Baux 2014 Proband F - - - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-1 - PubMed: Baux 2014 Proband F - - - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-1 - PubMed: Baux 2014 Proband - unclear USH phenotype M - France - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-1 - PubMed: Baux 2014 Proband - unclear USH phenotype M - France - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Baux 2014 Proband M - France - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Baux 2014 Proband M - France - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Baux 2014 Proband M - Haiti - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Baux 2014 Proband M - Haiti - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-1 - PubMed: Baux 2014 Proband F - - - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-1 - PubMed: Baux 2014 Proband F - - - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-1 - PubMed: Baux 2014 Proband - unclear USH phenotype M - France - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-1 - PubMed: Baux 2014 Proband - unclear USH phenotype M - France - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Baux 2014 Proband M - France - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Baux 2014 Proband M - France - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Baux 2014 Proband M - Haiti - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Baux 2014 Proband M - Haiti - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-1 - PubMed: Baux 2014 Proband F - - - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-1 - PubMed: Baux 2014 Proband F - - - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-1 - PubMed: Baux 2014 Proband - unclear USH phenotype M - France - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-1 - PubMed: Baux 2014 Proband - unclear USH phenotype M - France - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Baux 2014 Proband M - France - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Baux 2014 Proband M - France - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Baux 2014 Proband M - Haiti - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Baux 2014 Proband M - Haiti - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-1 - PubMed: Baux 2014 Proband F - - - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-1 - PubMed: Baux 2014 Proband F - - - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-1 - PubMed: Baux 2014 Proband - unclear USH phenotype M - France - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-1 - PubMed: Baux 2014 Proband - unclear USH phenotype M - France - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Baux 2014 Proband M - France - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Baux 2014 Proband M - France - - 0 - - 1 Anne-Françoise Roux
+/. 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 - - - 0 - DNA SEQ - - USH-2 RP1638 PubMed: Garcia-Garcia 2011 Proband M - Spain - - 0 - - 1 Jose Maria Millan
+/. - 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 - - - 0 - DNA SEQ - - HL 19758 PubMed: Sun 2018 family - no China - - 0 - - 1 -
?/. - c.1A>G r.(?) p.(Met1?) - Unknown - VUS g.216595678T>C g.216422336T>C - - USH2A_001683 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.60G>C r.(?) p.(Leu20Phe) - Unknown - VUS g.216595619C>G g.216422277C>G USH2A(NM_206933.2):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 0 - DNA SEQ - - USH-2 - PubMed: Baux 2014 Proband M - France - - 0 - - 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 0 - DNA SEQ - - USH-2 - PubMed: Baux 2014 Proband M - France - - 0 - - 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_001681 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.83del r.(?) p.(Ile28Asnfs*3) Signal peptide (1-31) Paternal (inferred) - pathogenic g.216595596del g.216422254del 83delT - USH2A_000360 Homozygous PubMed: Baux 2014 - - Germline - - - 0 - DNA SEQ - - USH-2 - PubMed: Baux 2014 Proband F - Morocco - - 0 - - 1 Anne-Françoise Roux
+/+ 2 c.83del r.(?) p.(Ile28Asnfs*3) Signal peptide (1-31) Maternal (inferred) - pathogenic g.216595596del g.216422254del 83delT - USH2A_000360 Homozygous PubMed: Baux 2014 - - Germline - - - 0 - DNA SEQ - - USH-2 - PubMed: Baux 2014 Proband F - Morocco - - 0 - - 1 Anne-Françoise Roux
+/+ 2 c.98_99insT r.(?) p.(Arg34Thrfs*41) - Parent #1 - pathogenic g.216595580_216595581insA g.216422238_216422239insA - - USH2A_000004 Heterozygous PubMed: Dai 2008 - - Germline - 0/200 controls - 0 - DNA SEQ - - USH-2 - PubMed: Dai 2008 Proband M - China - - 0 - - 1 Anne-Françoise Roux
+/+ 2 c.98_99insT r.(?) p.(Arg34Thrfs*41) - Parent #1 - pathogenic g.216595580_216595581insA g.216422238_216422239insA - - USH2A_000004 Heterozygous PubMed: Dai 2008 - - Germline - 0/200 controls - 0 - DNA SEQ - - USH-2 - PubMed: Dai 2008 Relative F - China - - 0 - - 1 Anne-Françoise Roux
+/+ 2 c.99_100insT r.(?) p.(Arg34Serfs*41) - Unknown - pathogenic g.216595579_216595580insA g.216422237_216422238insA - - USH2A_000889 Heterozygous PubMed: Lenassi 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Lenassi 2015 Proband - - United Kingdom (Great Britain) - - 0 - - 1 Eva Lenassi
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - Parent #1 ACMG pathogenic (recessive) g.216595579_216595580insA g.216422237_216422238insA - - USH2A_000889 - PubMed: Sun 2018 - - Germline - - - 0 - DNA SEQ-NG - - HL 19395 PubMed: Sun 2018 family - no China - - 0 - - 1 -
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - Parent #1 ACMG pathogenic (recessive) g.216595579_216595580insA g.216422237_216422238insA - - USH2A_000889 - PubMed: Sun 2018 - - Germline - - - 0 - DNA SEQ-NG - - HL 19399 PubMed: Sun 2018 sporadic case - no China - - 0 - - 1 -
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - Parent #1 ACMG pathogenic (recessive) g.216595579_216595580insA g.216422237_216422238insA - - USH2A_000889 - PubMed: Sun 2018 - - Germline - - - 0 - DNA SEQ - - HL 19954 PubMed: Sun 2018 sporadic case - no China - - 0 - - 1 -
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - Parent #1 ACMG pathogenic (recessive) g.216595579_216595580insA g.216422237_216422238insA - - USH2A_000889 - PubMed: Sun 2018 - - Germline - - - 0 - DNA SEQ - - HL 73036 PubMed: Sun 2018 family - no China - - 0 - - 1 -
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) - Both (homozygous) ACMG pathogenic (recessive) g.216595579_216595580insA g.216422237_216422238insA - - USH2A_000889 - PubMed: Sun 2018 - - Germline - - - 0 - DNA SEQ-NG - - HL 73061 PubMed: Sun 2018 family - no China - - 0 - - 1 -
+/+ 2 c.100C>T r.(?) p.(Arg34*) - Unknown - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - 0/878 controls +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; 0 - DNA SEQ - - USH-2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - 1 Maria Bitner-Glindzicz
+/+ 2 c.100C>T r.(?) p.(Arg34*) - Unknown - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous PubMed: Dreyer 2000 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; 0 - DNA SEQ - - USH-2 - PubMed: Dreyer 2000 Proband - - Norway - - 0 - - 1 Anne-Françoise Roux
+/+ 2 c.100C>T r.(?) p.(Arg34*) - Parent #1 - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous PubMed: Dreyer 2000 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; 0 - DNA SEQ - - USH-2 - PubMed: Dreyer 2000 Proband - - Norway - - 0 - - 1 Anne-Françoise Roux
+/+ 2 c.100C>T r.(?) p.(Arg34*) - Parent #2 - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous PubMed: Jaijo 2010 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; 0 - DNA SEQ - - USH-2 - PubMed: Jaijo 2010 Proband F - Spain - - 0 - - 1 Jose Maria Millan
+/+ 2 c.100C>T r.(?) p.(Arg34*) - Parent #2 - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous PubMed: Bernal 2005 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; 0 - DNA SEQ - - USH-2 - PubMed: Bernal 2005 Proband M - Spain - - 0 - - 1 Anne-Françoise Roux
+/+ 2 c.100C>T r.(?) p.(Arg34*) - Parent #2 - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous PubMed: Bernal 2005 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; 0 - DNA SEQ - - USH-2 - PubMed: Bernal 2005 Relative F - Spain - - 0 - - 1 Anne-Françoise Roux
+/+ 2 c.100C>T r.(?) p.(Arg34*) - Paternal (confirmed) - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous PubMed: Baux 2014 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; 0 - DNA SEQ - - USH-2 - PubMed: Baux 2014 Proband M - France - - 0 - - 1 Anne-Françoise Roux
+/+ 2 c.100C>T r.(?) p.(Arg34*) - Unknown - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous; mutation PubMed: Krawitz 2014 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; 0 - DNA SEQ-NG-S - - USH-2 - PubMed: Krawitz 2014 Proband M - Germany - - 0 - - 1 Peter Krawitz
+/+ 2 c.100C>T r.(?) p.(Arg34*) - Parent #2 - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous; mutation PubMed: Jiang 2015 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Jiang 2015 Proband M - China - - 0 - - 1 Anne-Françoise Roux
+/+ 2 c.100C>T r.(?) p.(Arg34*) - Parent #2 - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous; mutation PubMed: Jiang 2015 - - Germline - - +FatI;+BspHI;+NlaIII;+CviAII;-BssSI;-Tsp45I; 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Jiang 2015 Proband M - China - - 0 - - 1 Anne-Françoise Roux
+/+ 2 c.100C>T r.(?) p.(Arg34*) - Parent #1 - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Bonnet 2016 Proband - - France - - 0 - - 1 Crystel Bonnet
+/+ 2 c.100C>T r.(?) p.(Arg34*) - Parent #1 - pathogenic g.216595579G>A g.216422237G>A - - USH2A_000165 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Bonnet 2016 Proband - - France - - 0 - - 1 Crystel Bonnet
+?/. - c.100C>T r.(?) p.(Arg34*) - Parent #1 - likely pathogenic g.216595579G>A - - - USH2A_000165 - PubMed: Holtan 2020 - - Germline - 1/899 cases - 0 - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.100C>T r.(?) p.(Arg34*) - Unknown - pathogenic (recessive) g.216595579G>A - 1:216595579G>A ENST00000307340.3:c.100C>T (Arg34Ter) - USH2A_000165 - PubMed: Carss 2017 - - Germline - - - 0 - DNA SEQ-NG - WGS retinal disease G007743 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - 0 - - 1 -
+/+ 2 c.100_101insT r.(?) p.(Arg34Leufs*41) - Parent #1 - pathogenic g.216595578_216595579insA g.216422236_216422237insA - - USH2A_000957 Heterozygous; mutation PubMed: Jiang 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Jiang 2015 Proband M - China - - 0 - - 1 Anne-Françoise Roux
+/+ 2 c.100_101insT r.(?) p.(Arg34Leufs*41) - Parent #2 - pathogenic g.216595578_216595579insA g.216422236_216422237insA - - USH2A_000957 Heterozygous; mutation PubMed: Jiang 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Jiang 2015 Proband F - China - - 0 - - 1 Anne-Françoise Roux
+/+ 2 c.100_101insT r.(?) p.(Arg34Leufs*41) - Paternal (inferred) - pathogenic g.216595578_216595579insA g.216422236_216422237insA - - USH2A_000957 Homozygous; mutation PubMed: Jiang 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Jiang 2015 Proband F - China - - 0 - - 1 Anne-Françoise Roux
+/+ 2 c.100_101insT r.(?) p.(Arg34Leufs*41) - Maternal (inferred) - pathogenic g.216595578_216595579insA g.216422236_216422237insA - - USH2A_000957 Homozygous; mutation PubMed: Jiang 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Jiang 2015 Proband F - China - - 0 - - 1 Anne-Françoise Roux
+/+ 2 c.100_101insT r.(?) p.(Arg34Leufs*41) - Parent #1 - pathogenic g.216595578_216595579insA g.216422236_216422237insA - - USH2A_000957 Heterozygous; mutation PubMed: Jiang 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Jiang 2015 Proband M - China - - 0 - - 1 Anne-Françoise Roux
+/. - c.126C>G r.(?) p.(Asn42Lys) - Unknown - pathogenic g.216595553G>C g.216422211G>C - - USH2A_001891 - PubMed: Comander 2017 - - Germline - - - 0 - DNA SEQ-NG - gene panel retinal disease Pat26 PubMed: Comander 2017 proband F - United States - - 0 - - 1 Johan den Dunnen
+?/? 2 c.130G>A r.(?) p.(Gly44Arg) - Parent #1 ACMG VUS g.216595549C>T g.216422207C>T - - USH2A_000676 Heterozygous; Pathogenic PubMed: Garcia-Garcia 2011, USMA missense analysis, missense variant in MSV3d - - Germline - 0/200 controls none 0 - DNA SEQ - - USH-2 - PubMed: Garcia-Garcia 2011 Proband M - Spain - - 0 - - 1 Jose Maria Millan
+/. 2 c.174T>A r.(?) p.(Cys58*) - Parent #1 ACMG pathogenic (recessive) g.216595505A>T - - - USH2A_002002 - Bahena et al., 2021 (submitted) - - Germline ? - - 0 - DNA SEQ-NG-I - Exome sequencing deafness, retinal degeneration Patient 51 Bahena et al., 2021 (submitted) - M no Iran - - 0 - - 2 Barbara Vona
+?/? 2 c.176G>A r.(?) p.(Gly59Glu) - Unknown ACMG VUS g.216595503C>T g.216422161C>T - - USH2A_000770 Heterozygous; likely pathogenic PubMed: Glöckle 2014, USMA missense analysis, missense variant in MSV3d - - Germline - - -HinfI;-MlyI;-PleI;-XcmI; 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Glöckle 2014 Proband - - - - - 0 - - 1 Anne-Françoise Roux
+/. - c.187C>T r.(?) p.(Arg63Ter) - Unknown - pathogenic g.216595492G>A g.216422150G>A - - USH2A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.187C>T r.(?) p.(Arg63*) - Parent #1 - pathogenic g.216595492G>A g.216422150G>A - - USH2A_000017 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - - +AcuI 0 - DNA SEQ - - USH-2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - 1 Maria Bitner-Glindzicz
+/+ 2 c.187C>T r.(?) p.(Arg63*) - Unknown - pathogenic g.216595492G>A g.216422150G>A - - USH2A_000017 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - - +AcuI 0 - DNA SEQ - - USH-2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - 1 Maria Bitner-Glindzicz
+/+ 2 c.187C>T r.(?) p.(Arg63*) - Parent #2 - pathogenic g.216595492G>A g.216422150G>A - - USH2A_000017 Heterozygous PubMed: Dreyer 2000 - - Germline - - +AcuI 0 - DNA SEQ - - USH-2 - PubMed: Dreyer 2000 Proband - - Denmark - - 0 - - 1 Anne-Françoise Roux
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