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.

106 entries on 2 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.7595-2144A>G r.(=) p.(=) - Unknown - pathogenic g.216064540T>C g.215891198T>C USH2A(NM_206933.2):c.7595-2144A>G, USH2A(NM_206933.4):c.7595-2144A>G - USH2A_000654 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.7595-2144A>G r.(=) p.(=) - Unknown - pathogenic g.216064540T>C g.215891198T>C USH2A(NM_206933.2):c.7595-2144A>G, USH2A(NM_206933.4):c.7595-2144A>G - USH2A_000654 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.7595-2144A>G r.(=) p.(=) - Unknown - pathogenic g.216064540T>C g.215891198T>C USH2A(NM_206933.2):c.7595-2144A>G, USH2A(NM_206933.4):c.7595-2144A>G - USH2A_000654 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 - Unknown - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous; induces inclusion of 152bp (pseudo-exon); Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - - +BsaJI;+StyI; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 - Unknown - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous; induces inclusion of 152bp (pseudo-exon); Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - - +BsaJI;+StyI; - - DNA SEQ - - USH - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 - Paternal (confirmed) - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous; induces inclusion of 152bp (pseudo-exon); Pathogenic PubMed: Le Quesne Stabej 2012 - - Germline - - +BsaJI;+StyI; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 - Paternal (confirmed) - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous; induces inclusion of 152bp (pseudo-exon); Pathogenic PubMed: Baux 2007 - - Germline - 0/190 controls +BsaJI;+StyI; - - DNA SEQ - - USH2 - PubMed: Baux 2007 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 - Maternal (confirmed) - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous; induces inclusion of 152bp (pseudo-exon); Pathogenic PubMed: Vaché 2012 - - Germline - 0/190 controls +BsaJI;+StyI; - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - Italy - - - - - 1 Anne-Françoise Roux
+/+ 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 - Maternal (confirmed) - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous; induces inclusion of 152bp (pseudo-exon); Pathogenic PubMed: Vaché 2012 - - Germline - 0/190 controls +BsaJI;+StyI; - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 - Unknown - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous; induces inclusion of 152bp (pseudo-exon); Pathogenic PubMed: Vaché 2012 - - Germline - 0/190 controls +BsaJI;+StyI; - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 - Maternal (confirmed) - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous; induces inclusion of 152bp (pseudo-exon); Pathogenic PubMed: Vaché 2012 - - Germline - 0/190 controls +BsaJI;+StyI; - - DNA, RNA RT-PCR, SEQ - - USH2 - PubMed: Vaché 2012 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 - Maternal (confirmed) - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous; induces inclusion of 152bp (pseudo-exon); Pathogenic PubMed: Vaché 2012 - - Germline - 0/190 controls +BsaJI;+StyI; - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 - Maternal (confirmed) - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous; induces inclusion of 152bp (pseudo-exon); Pathogenic PubMed: Vaché 2012 - - Germline - 0/190 controls +BsaJI;+StyI; - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Relative F - France - - - - - 1 Anne-Françoise Roux
+/+ 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 - Paternal (confirmed) - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous; induces inclusion of 152bp (pseudo-exon); Pathogenic PubMed: Vaché 2012 - - Germline - 0/190 controls +BsaJI;+StyI; - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Relative M - France - - - - - 1 Anne-Françoise Roux
+/+ 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 - Paternal (confirmed) - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous; induces inclusion of 152bp (pseudo-exon); Pathogenic PubMed: Vaché 2012 - - Germline - 0/190 controls +BsaJI;+StyI; - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Relative F - France - - - - - 1 Anne-Françoise Roux
+/+ 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 - Unknown - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous; induces inclusion of 152bp (pseudo-exon); Pathogenic PubMed: Vaché 2012 - - Germline - 0/180 controls +BsaJI;+StyI; - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband M - Spain - - - - - 1 Jose Maria Millan
+/+ 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 - Unknown - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous; induces inclusion of 152bp (pseudo-exon); Pathogenic PubMed: Vaché 2012 - - Germline - 0/180 controls +BsaJI;+StyI; - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - Spain - - - - - 1 Jose Maria Millan
+/+ 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 - Unknown - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous; induces inclusion of 152bp (pseudo-exon); Pathogenic PubMed: Vaché 2012 - - Germline - 0/180 controls +BsaJI;+StyI; - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - France - - - - - 1 Jose Maria Millan
+/+ 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 - Unknown - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous; induces inclusion of 152bp (pseudo-exon); Pathogenic PubMed: Vaché 2012 - - Germline - 0/180 controls +BsaJI;+StyI; - - DNA SEQ - - USH2 - PubMed: Vaché 2012 Proband F - Spain - - - - - 1 Jose Maria Millan
+/+ 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 - Maternal (confirmed) - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous; induces inclusion of 152bp (pseudo-exon); Pathogenic PubMed: Baux 2014 - - Germline - - +BsaJI;+StyI; - - DNA arrayCGH, MLPA, SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 - Paternal (confirmed) - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous; induces inclusion of 152bp (pseudo-exon) PubMed: Baux 2014 - - Germline - - +BsaJI;+StyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 - Maternal (confirmed) - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous; induces inclusion of 152bp (pseudo-exon); Pathogenic PubMed: Baux 2014 - - Germline - - +BsaJI;+StyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 - Unknown - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous; induces inclusion of 152bp (pseudo-exon); mutation PubMed: Krawitz 2014 - - Germline - - +BsaJI;+StyI; - - DNA SEQ-NG-S - - USH2 - PubMed: Krawitz 2014 Proband M - Germany - - - - - 1 Peter Krawitz
-/- 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 - Unknown - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous; induces inclusion of 152bp (pseudo-exon) PubMed: Baux 2014 - - Germline - 0/190 controls +BsaJI;+StyI; - - DNA SEQ - - USH2 - PubMed: Baux 2014 - F - France - - - - - 1 Anne-Françoise Roux
+/+ 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 - Unknown - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous PubMed: Aparisi 2014 - - Germline - - +BsaJI;+StyI; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Aparisi 2014 Proband - - Spain - - - - - 1 Anne-Françoise Roux
+/+ 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 - Parent #2 - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous; induces inclusion of 152bp (pseudo-exon) PubMed: Sodi 2014 - - Germline - - +BsaJI;+StyI; - - DNA SEQ - - USH2 - PubMed: Sodi 2014 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 - Parent #1 - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous; induces inclusion of 152bp (pseudo-exon) PubMed: Sodi 2014 - - Germline - - +BsaJI;+StyI; - - DNA SEQ - - USH2 - PubMed: Sodi 2014 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 Fibronectin type-III 12 (2533-2619) Parent #1 - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - Germany - - - - - 1 Crystel Bonnet
+/+ 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 - Parent #2 - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/+ 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 - Parent #2 - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/+ 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 - Parent #1 - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - France - - - - - 1 Crystel Bonnet
+/+ 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 - Parent #1 - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - France - - - - - 1 Crystel Bonnet
+/+ 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 - Parent #2 - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - France - - - - - 1 Crystel Bonnet
+/+ 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 - Parent #1 - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband M - France - - - - - 1 Crystel Bonnet
+/+ 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 - Parent #1 - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband F - France - - - - - 1 Crystel Bonnet
+/+ 40i c.7595-2144A>G r.7594_7595ins7595-2296_7595-2143 p.Lys2532Thrfs*56 - Parent #2 - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 Heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Bonnet 2016 Proband - - Spain - - - - - 1 Crystel Bonnet
+?/. - c.7595-2144A>G r.spl p.? - Parent #1 - likely pathogenic g.216064540T>C - - - USH2A_000654 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
+/. - c.7595-2144A>G r.spl p.? - Unknown ACMG pathogenic g.216064540T>C - - - USH2A_000654 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.7595-2144A>G r.spl p.? - Unknown ACMG pathogenic g.216064540T>C - - - USH2A_000654 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.7595-2144A>G r.spl p.(Lys2532Thrfs*56) - Parent #1 - pathogenic (recessive) g.216064540T>C g.215891198T>C - - USH2A_000654 - PubMed: Fuster-Garcia 2018 - - Germline - - - - - DNA arraySEQ - - retinal disease RP1809 PubMed: Fuster-Garcia 2018 analysis 77 USH patients - - Spain - - - - - 1 Global Variome, with Curator vacancy
+/. - c.7595-2144A>G r.spl p.(Lys2532Thrfs*56) - Parent #1 - pathogenic (recessive) g.216064540T>C g.215891198T>C - - USH2A_000654 - PubMed: Fuster-Garcia 2018 - - Germline - - - - - DNA arraySEQ - - retinal disease RP2050 PubMed: Fuster-Garcia 2018 analysis 77 USH patients - - Spain - - - - - 1 Global Variome, with Curator vacancy
+/. - c.7595-2144A>G r.spl p.? - Parent #2 - pathogenic (recessive) g.216064540T>C - 1:216064540T>C ENST00000307340.3:c.7595-2144A>G - USH2A_000654 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G001035 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.7595-2144A>G r.spl p.? - Parent #1 - likely pathogenic g.216064540T>C g.215891198T>C IVS40-2144A>G - USH2A_000654 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 94 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.7595-2144A>G r.spl p.? - Parent #1 - likely pathogenic g.216064540T>C g.215891198T>C IVS40-2144A>G - USH2A_000654 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 95 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.7595-2144A>G r.spl p.? - Parent #2 - likely pathogenic g.216064540T>C g.215891198T>C IVS40-2144A>G - USH2A_000654 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 566 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+/. 40i c.7595-2144A>G r.(=) p.(=) - Parent #2 ACMG pathogenic (recessive) g.216064540T>C - - - USH2A_000654 - PubMed: Bahena 2021 - - Germline yes - - - - DNA SEQ-NG-I - Exome sequencing USH Pat43 PubMed: Bahena 2021 - F - Iran - - - - - 1 Barbara Vona
+/. - c.7595-2144A>G r.spl p.? - Parent #1 - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 - PubMed: Neuhaus 2017 - - Germline - - - - - DNA SEQ-NG - gene panel USH Pat129 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. - c.7595-2144A>G r.spl p.? - Parent #2 - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 - PubMed: Neuhaus 2017 - - Germline yes - - - - DNA SEQ - - USH Pat85 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. - c.7595-2144A>G r.spl p.? - Parent #2 - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 - PubMed: Neuhaus 2017 - - Germline yes - - - - DNA SEQ - - USH Pat107 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+/. - c.7595-2144A>G r.spl p.? - Parent #2 - pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 - PubMed: Neuhaus 2017 - - Germline yes - - - - DNA SEQ - - USH Pat64 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+?/. - c.7595-2144A>G r.spl p.(Lys2532Thrfs*56) - Paternal (confirmed) - likely pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 - PubMed: Perez-Carro 2018 - - Germline yes - - - - DNA SEQ blood - retinal disease RP-0467 PubMed: Perez-Carro 2018 family RP-0467 M no Spain - - - - - 1 LOVD
+?/. - c.7595-2144A>G r.spl p.(Lys2532Thrfs*56) - Paternal (confirmed) - likely pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 - PubMed: Perez-Carro 2018 - - Germline yes - - - - DNA SEQ blood - retinal disease RP-0467_II:1 PubMed: Perez-Carro 2018 family RP-0467 F no Spain - - - - - 1 LOVD
+?/. - c.7595-2144A>G r.spl p.(Lys2532Thrfs*56) - Paternal (confirmed) - likely pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 - PubMed: Perez-Carro 2018 - - Germline yes - - - - DNA SEQ blood - retinal disease RP-1031 PubMed: Perez-Carro 2018 family RP-1031 F no Spain - - - - - 1 LOVD
+?/. - c.7595-2144A>G r.spl p.(Lys2532Thrfs*56) - Maternal (confirmed) - likely pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 - PubMed: Perez-Carro 2018 - - Germline yes - - - - DNA SEQ blood - retinal disease RP-1776 PubMed: Perez-Carro 2018 family RP-1776 M no Spain - - - - - 1 LOVD
+?/. - c.7595-2144A>G r.spl p.(Lys2532Thrfs*56) - Paternal (confirmed) - likely pathogenic g.216064540T>C g.215891198T>C - - USH2A_000654 - PubMed: Perez-Carro 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease RP-2262 PubMed: Perez-Carro 2018 family RP-2262 M no Spain - - - - - 1 LOVD
+/. - c.7595-2144A>G r.spl p.(?) - Unknown ACMG pathogenic g.216064540T>C g.215891198T>C USH2A c.12575G>A, p.(Arg4192His), c.7595-2144A>G, p.(?) - USH2A_000654 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 275 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.7595-2144A>G r.spl p.(?) - Unknown ACMG pathogenic g.216064540T>C g.215891198T>C USH2A c.2299del, p.(Glu767Serfs*21), c.4714C>T, p.(Leu1572Phe), c.7595-2144A>G, p.(?) - USH2A_000654 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 295 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. 40i c.7595-2144A>G r.(?) p.(?) - Unknown - likely pathogenic g.216064540T>C g.215891198T>C USH2A Ex.13 c.2276G>T p.(Cys759Phe), IVS40 c.7595-2144A>G p.(?) - USH2A_000654 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease RP-1776 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 40i c.7595-2144A>G r.(?) p.(?) - Unknown - likely pathogenic g.216064540T>C g.215891198T>C USH2A Ex.13 c.2276G>T p.(Cys759Phe), IVS40 c.7595-2144A>G p.(?), CNGA1 : Ex.4 c.94C>T p.(Arg32*) - USH2A_000654 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease RP-2262 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. - c.7595-2144A>G r.spl p.(?) - Unknown - likely pathogenic g.216064540T>C g.215891198T>C USH2A c.7595-2144A>G - USH2A_000654 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-1053 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.7595-2144A>G r.(?) p.(Lys2532ThrfsTer56) - Unknown ACMG pathogenic g.216064540T>C - - - USH2A_000654 - PubMed: Mansard et al, 2021 - rs786200928 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+?/. - c.7595-2144A>G r.(?) p.(?) - Parent #2 - likely pathogenic g.216064540T>C g.215891198T>C USH2A c.7595-2144A>G, p.(?) - USH2A_000654 compound heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 130 PubMed: Jauregui 2020 - M - (United States) white - - - - 1 LOVD
+/. - c.7595-2144A>G r.(?) p.(Lys2532ThrfsTer56) - Paternal (confirmed) ACMG pathogenic g.216064540T>C - - - USH2A_000654 - PubMed: Mansard et al, 2021 - rs786200928 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.7595-2144A>G r.(?) p.(Lys2532ThrfsTer56) - Unknown ACMG pathogenic g.216064540T>C - - - USH2A_000654 - PubMed: Mansard et al, 2021 - rs786200928 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+/. - c.7595-2144A>G r.(?) p.(Lys2532ThrfsTer56) - Maternal (confirmed) ACMG pathogenic g.216064540T>C - - - USH2A_000654 - PubMed: Mansard et al, 2021 - rs786200928 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+/. - c.7595-2144A>G r.(?) p.(Lys2532ThrfsTer56) - Unknown ACMG pathogenic g.216064540T>C - - - USH2A_000654 - PubMed: Mansard et al, 2021 - rs786200928 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.7595-2144A>G r.(?) p.(Lys2532ThrfsTer56) - Unknown ACMG pathogenic g.216064540T>C - - - USH2A_000654 - PubMed: Mansard et al, 2021 - rs786200928 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.7595-2144A>G r.(?) p.(Lys2532ThrfsTer56) - Unknown ACMG pathogenic g.216064540T>C - - - USH2A_000654 - PubMed: Mansard et al, 2021 - rs786200928 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.7595-2144A>G r.(?) p.(Lys2532ThrfsTer56) - Maternal (confirmed) ACMG pathogenic g.216064540T>C - - - USH2A_000654 - PubMed: Mansard et al, 2021 - rs786200928 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.7595-2144A>G r.(?) p.(Lys2532ThrfsTer56) - Maternal (confirmed) ACMG pathogenic g.216064540T>C - - - USH2A_000654 - PubMed: Mansard et al, 2021 - rs786200928 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+/. - c.7595-2144A>G r.(?) p.(Lys2532ThrfsTer56) - Maternal (confirmed) ACMG pathogenic g.216064540T>C - - - USH2A_000654 - PubMed: Mansard et al, 2021 - rs786200928 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.7595-2144A>G r.(?) p.(Lys2532ThrfsTer56) - Unknown ACMG pathogenic g.216064540T>C - - - USH2A_000654 - PubMed: Mansard et al, 2021 - rs786200928 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.7595-2144A>G r.(?) p.(Lys2532ThrfsTer56) - Maternal (confirmed) ACMG pathogenic g.216064540T>C - - - USH2A_000654 - PubMed: Mansard et al, 2021 - rs786200928 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - M - - - - - - - 1 Anne-Françoise Roux
+/. - c.7595-2144A>G r.(?) p.(Lys2532ThrfsTer56) - Both (homozygous) ACMG pathogenic g.216064540T>C - - - USH2A_000654 - PubMed: Mansard et al, 2021 - rs786200928 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.7595-2144A>G r.(?) p.(Lys2532ThrfsTer56) - Unknown ACMG pathogenic g.216064540T>C - - - USH2A_000654 - PubMed: Mansard et al, 2021 - rs786200928 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.7595-2144A>G r.(?) p.(Lys2532ThrfsTer56) - Paternal (confirmed) ACMG pathogenic g.216064540T>C - - - USH2A_000654 - PubMed: Mansard et al, 2021 - rs786200928 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.7595-2144A>G r.(?) p.(Lys2532ThrfsTer56) - Both (homozygous) ACMG pathogenic g.216064540T>C - - - USH2A_000654 - PubMed: Mansard et al, 2021 - rs786200928 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+/. - c.7595-2144A>G r.(?) p.(Lys2532ThrfsTer56) - Unknown ACMG pathogenic g.216064540T>C - - - USH2A_000654 - PubMed: Mansard et al, 2021 - rs786200928 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
+?/. - c.7595-2144A>G r.spl p.(?) - Parent #1 - likely pathogenic g.216064540T>C g.215891198T>C USH2A, variant 1: c.7595-2144A>G/p.?, variant 2: c.7595-2144A>G/p.? - USH2A_000654 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 664 PubMed: Weisschuh 2020 Filing key number: 236, Usher syndrome type 2, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.7595-2144A>G r.spl p.(?) - Parent #1 - likely pathogenic g.216064540T>C g.215891198T>C USH2A, variant 1: c.7595-2144A>G/p.?, variant 2: c.4365T>G/p.S1455R - USH2A_000654 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 762 PubMed: Weisschuh 2020 Filing key number: 295, Usher syndrome type 2, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.7595-2144A>G r.spl p.(?) - Parent #1 - likely pathogenic g.216064540T>C g.215891198T>C USH2A, variant 1: c.7595-2144A>G/p.?, variant 2: c.14219C>A/p.A4740D - USH2A_000654 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 897 PubMed: Weisschuh 2020 Filing key number: 376, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.7595-2144A>G r.spl p.(?) - Parent #1 - likely pathogenic g.216064540T>C g.215891198T>C USH2A, variant 1: c.7595-2144A>G/p.?, variant 2: c.3461T>C/p.L1154S - USH2A_000654 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 1210 PubMed: Weisschuh 2020 Filing key number: 931, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.7595-2144A>G r.spl p.(?) - Parent #1 - likely pathogenic g.216064540T>C g.215891198T>C USH2A, variant 1: c.2276G>T/p.C759F, variant 2: c.7595-2144A>G/p.? - USH2A_000654 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 1149 PubMed: Weisschuh 2020 Filing key number: 813, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.7595-2144A>G r.spl p.(?) - Unknown - likely pathogenic g.216064540T>C g.215891198T>C USH2A c.7595-2144A>G, - USH2A_000654 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001035 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
?/. 40i c.7595-2144A>G r.(=) p.(=) - Unknown - VUS g.216064540T>C - c.7595-2144A>G - USH2A_000654 - PubMed: Khalaileh-2018 - - Unknown - - - - - DNA SEQ-NG blood WES retinal disease - PubMed: Khalaileh-2018 - - yes - Jewish-Ashkenazi/Oriental Jew - - - - 1 LOVD
+/. 40i c.7595-2144A>G r.(=) p.(=) - Unknown - pathogenic (recessive) g.216064540T>C - c.7595-2144A>G - USH2A_000654 - PubMed: Colombo-2020 - rs786200928 Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+/. 40i c.7595-2144A>G r.(=) p.(=) - Unknown - pathogenic g.216064540T>C - c.7595-2144A>G - USH2A_000654 - PubMed: Colombo-2020 - rs786200928 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+?/. 40i c.7595-2144A>G r.(=) p.(=) - Unknown - likely pathogenic g.216064540T>C - c.7595-2144A>G - USH2A_000654 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+/. - c.7595-2144A>G r.spl p.(Lys2532Thrfs*56) - Unknown - pathogenic g.216064540T>C g.215891198T>C USH2A c.7595-2144A>G, p.(Lys2532Thrfs*56) - USH2A_000654 no change on the other allele detected PubMed: Steele-Stallard 2013 - - Germline yes - - - - DNA MLPA, arrayCGH, PCR, SEQ - - retinal disease 128_II:1 PubMed: Steele-Stallard 2013 proband of family 128_II:1 F - United Kingdom (Great Britain) white - - - - 1 LOVD
+/. - c.7595-2144A>G r.spl p.(Lys2532Thrfs*56) - Unknown - pathogenic g.216064540T>C g.215891198T>C USH2A c.7595-2144A>G, p.(Lys2532Thrfs*56) - USH2A_000654 no change on the other allele detected PubMed: Steele-Stallard 2013 - - Germline yes - - - - DNA SEQ - - retinal disease 128_II:2 PubMed: Steele-Stallard 2013 sister of proband, family 128_II:2 F - United Kingdom (Great Britain) white - - - - 1 LOVD
+/. - c.7595-2144A>G r.spl p.(Lys2532Thrfs*56) - Unknown - pathogenic g.216064540T>C g.215891198T>C USH2A c.7595-2144A>G, p.(Lys2532Thrfs*56) - USH2A_000654 no change on the other allele detected PubMed: Steele-Stallard 2013 - - Germline yes - - - - DNA SEQ - - retinal disease 128_II:3 PubMed: Steele-Stallard 2013 sister2 of proband, family 128_II:3 F - United Kingdom (Great Britain) white - - - - 1 LOVD
+/. - c.7595-2144A>G r.spl p.(Lys2532Thrfs*56) - Paternal (confirmed) - pathogenic g.216064540T>C g.215891198T>C USH2A c.7595-2144A>G, p.(Lys2532Thrfs*56) - USH2A_000654 - PubMed: Steele-Stallard 2013 - - Germline yes - - - - DNA MLPA, arrayCGH, PCR, SEQ - - retinal disease 24_II:1 PubMed: Steele-Stallard 2013 proband of family 24_II:1 F - United Kingdom (Great Britain) white - - - - 1 LOVD
+/. - c.7595-2144A>G r.spl p.(Lys2532Thrfs*56) - Unknown - pathogenic g.216064540T>C g.215891198T>C USH2A c.7595-2144A>G, p.(Lys2532Thrfs*56) - USH2A_000654 - PubMed: Steele-Stallard 2013 - - Germline yes - - - - DNA MLPA, arrayCGH, PCR, SEQ - - retinal disease 707_II:1 PubMed: Steele-Stallard 2013 proband of family 707_II:1 M - United Kingdom (Great Britain) white - - - - 1 LOVD
+/. - c.7595-2144A>G r.spl p.(Lys2532Thrfs*56) - Paternal (confirmed) - pathogenic g.216064540T>C g.215891198T>C USH2A c.7595-2144A>G, p.(Lys2532Thrfs*56) - USH2A_000654 - PubMed: Steele-Stallard 2013 - - Germline yes - - - - DNA SEQ - - retinal disease 24_II:2 PubMed: Steele-Stallard 2013 sister of proband, family 24_II:2 F - United Kingdom (Great Britain) white - - - - 1 LOVD
+/. - c.7595-2144A>G r.spl p.(Lys2532Thrfs*56) - Unknown - pathogenic g.216064540T>C g.215891198T>C USH2A c.7595-2144A>G, p.(Lys2532Thrfs*56) - USH2A_000654 - PubMed: Steele-Stallard 2013 - - Germline yes - - - - DNA SEQ - - retinal disease 707_II:2 PubMed: Steele-Stallard 2013 brother of proband, family 707_II:2 M - United Kingdom (Great Britain) white - - - - 1 LOVD
+?/. - c.7595-2144A>G r.spl p.(?) - Parent #2 - likely pathogenic g.216064540T>C g.215891198T>C USH2A c.7595-2144A>G - USH2A_000654 protein variant annotation not written; heterozygous PubMed: Toms 2020 - - Unknown ? - - - - ? ? - retrospective cohort retinal disease 24 PubMed: Toms 2020 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.7595-2144A>G r.spl p.(?) - Parent #2 - likely pathogenic g.216064540T>C g.215891198T>C USH2A c.7595-2144A>G - USH2A_000654 protein variant annotation not written; heterozygous PubMed: Toms 2020 - - Unknown ? - - - - ? ? - retrospective cohort retinal disease 35 PubMed: Toms 2020 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.7595-2144A>G r.spl p.(?) - Parent #2 - likely pathogenic g.216064540T>C g.215891198T>C USH2A c.7595-2144A>G - USH2A_000654 protein variant annotation not written; heterozygous PubMed: Toms 2020 - - Unknown ? - - - - ? ? - retrospective cohort retinal disease 40 PubMed: Toms 2020 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.7595-2144A>G r.spl p.(?) - Parent #2 - likely pathogenic g.216064540T>C g.215891198T>C USH2A c.7595-2144A>G - USH2A_000654 protein variant annotation not written; heterozygous PubMed: Toms 2020 - - Unknown ? - - - - ? ? - retrospective cohort retinal disease 58 PubMed: Toms 2020 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. 40i c.7595-2144A>G r.(=) p.(Lys2532Thrfs*56) - Parent #1 - pathogenic g.216064540T>C - c.7595-2144A>G - USH2A_000654 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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