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.

1073 entries on 11 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11     Next › Last »

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     
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) - Unknown - pathogenic g.216420437del g.216247095del - - USH2A_000001 - - - - Unknown - - - - - DNA SEQ-NG-I - - RP - - - - - (United States) - - - - - 1 Feng Wang
+?/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) - Parent #2 - likely pathogenic g.216420437del g.216247095del - - USH2A_000001 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - DNA SEQ-NG - - deafness - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - 1 Mieke Wesdorp
+?/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) - Parent #1 - likely pathogenic g.216420437del g.216247095del - - USH2A_000001 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - DNA SEQ-NG - - deafness - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - 1 Mieke Wesdorp
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) - Unknown - pathogenic g.216420437del g.216247095del - - USH2A_000001 - PubMed: de Castro-Miró 2016 - - Germline yes - - - - DNA SEQ-NG-I Whole blood - USH2A 79ORG1 PubMed: de Castro-Miró 2016 - F no Uganda - - - - - 1 Marta de Castro-Miró
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) - Maternal (confirmed) - pathogenic g.216420437del g.216247095del - - USH2A_000001 - PubMed: de Castro-Miró 2014 - - Germline yes - - - - DNA SEQ-NG-I Whole blood - USH2A - PubMed: de Castro-Miró 2014 - F no Spain - - - - - 1 Marta de Castro-Miró
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) - Paternal (confirmed) - pathogenic g.216420437del g.216247095del - - USH2A_000001 - PubMed: de Castro-Miró 2014 - - Germline - - - - - DNA SEQ-NG-I Whole blood - USH2A - PubMed: de Castro-Miró 2014 - M ? Spain - - - - - 1 Marta de Castro-Miró
+/. - c.2299del r.(?) p.(Glu767SerfsTer21) - Unknown - pathogenic g.216420437del g.216247095del USH2A(NM_007123.5):c.2299del (p.(Glu767SerfsTer21)), USH2A(NM_206933.2):c.2299delG (p.E767Sfs*21), USH2A(NM_206933.4):c.2299delG (p.E767Sfs*21) - USH2A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2299del r.(?) p.(Glu767SerfsTer21) - Unknown - pathogenic g.216420437del g.216247095del USH2A(NM_007123.5):c.2299del (p.(Glu767SerfsTer21)), USH2A(NM_206933.2):c.2299delG (p.E767Sfs*21), USH2A(NM_206933.4):c.2299delG (p.E767Sfs*21) - USH2A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.2299del r.2299delU p.Glu767Serfs*21 - Parent #1 - pathogenic g.216420437del g.216247095del - - USH2A_000001 - - ClinVar-2351 rs80338903 Germline yes - - - - DNA SEQ-NG-I - Gene Panel (79 IRD genes) USH IRD4.0_#41 Manuscript under review (González-del Pozo et al., 2018) - ? ? Spain - - - - - 1 María González-del Pozo
+/. 13 c.2299del r.2299delU p.Glu767Serfs*21 - Unknown - pathogenic g.216420437del g.216247095del - - USH2A_000001 - - ClinVar-2351 rs80338903 Unknown ? - - - - DNA SEQ-NG-I - Gene Panel (79 IRD genes) retinal disease IRD4.0_#22 Manuscript under review (González-del Pozo et al., 2018) - ? ? Spain - - - - - 1 María González-del Pozo
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous PubMed: Licastro 2012 - rs80338903 Germline - - none - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Licastro 2012 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous PubMed: Aparisi 2014 - rs80338903 Germline - - none - - DNA SEQ - - USH2 - PubMed: Aparisi 2014 Proband - - Spain - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous PubMed: Besnard, Garcia-Garcia 2014 - rs80338903 Germline - - none - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Besnard, Garcia-Garcia 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Paternal (confirmed) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/844 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Maternal (confirmed) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Paternal (confirmed) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Paternal (inferred) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Maternal (confirmed) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Paternal (confirmed) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Paternal (confirmed) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Maternal (confirmed) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Maternal (confirmed) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Paternal (confirmed) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Paternal (confirmed) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/844 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Paternal (inferred) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Paternal (inferred) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Homozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Maternal (inferred) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Homozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Paternal (inferred) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Homozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/844 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Maternal (inferred) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Homozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/844 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Paternal (inferred) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/844 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Maternal (confirmed) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Paternal (confirmed) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/844 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Paternal (inferred) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Homozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Maternal (inferred) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Homozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Maternal (confirmed) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Paternal (inferred) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Homozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Maternal (inferred) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Homozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Paternal (confirmed) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Maternal (confirmed) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Paternal (confirmed) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Maternal (inferred) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/844 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Paternal (inferred) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Homozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Maternal (inferred) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Homozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Pathogenic PubMed: Le Quesne Stabej 2012 - rs80338903 Germline - 2/846 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous; Mutation PubMed: Vozzi 2011 - rs80338903 Germline - - none - - DNA PE, SEQ - APEX USH2 - PubMed: Vozzi 2011 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous PubMed: Roux 2011 - rs80338903 Germline - - none - - DNA SEQ - - USH1 - PubMed: Baux 2008 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous PubMed: Jaijo 2010 - rs80338903 Germline - - none - - DNA SEQ - - USH2 - PubMed: Aparisi 2014 Proband M - Spain - - - - - 1 Jose Maria Millan
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Paternal (inferred) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Homozygous PubMed: Dreyer 2001 - rs80338903 Germline - - none - - DNA SEQ - - USH2 - PubMed: Dreyer 2001 Proband - - Belgium - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Maternal (inferred) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Homozygous PubMed: Dreyer 2001 - rs80338903 Germline - - none - - DNA SEQ - - USH2 - PubMed: Dreyer 2001 Proband - - Belgium - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous PubMed: Dreyer 2001 - rs80338903 Germline - - none - - DNA SEQ - - USH2 - PubMed: Dreyer 2001 Proband - - Belgium - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous PubMed: Dreyer 2001 - rs80338903 Germline - - none - - DNA SEQ - - USH2 - PubMed: Dreyer 2001 Proband - - Canada - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Paternal (inferred) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Homozygous PubMed: Liu 1999 - rs80338903 Germline - 0/160 controls none - - DNA SEQ - - USH - PubMed: Liu 1999 Proband - - China - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Maternal (inferred) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Homozygous PubMed: Liu 1999 - rs80338903 Germline - 0/160 controls none - - DNA SEQ - - USH - PubMed: Liu 1999 Proband - - China - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous PubMed: Liu 1999 - rs80338903 Germline - 0/160 controls none - - DNA SEQ - - USH2 - PubMed: Liu 1999 Proband - - China - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Paternal (inferred) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Homozygous PubMed: Dreyer 2001 - rs80338903 Germline - - none - - DNA SEQ - - USH2 - PubMed: Dreyer 2001 Proband - - Colombia - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Maternal (inferred) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Homozygous PubMed: Dreyer 2001 - rs80338903 Germline - - none - - DNA SEQ - - USH2 - PubMed: Dreyer 2001 Proband - - Colombia - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous PubMed: Dreyer 2001 - rs80338903 Germline - - none - - DNA SEQ - - USH2 - PubMed: Dreyer 2001 Proband - - Germany - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous PubMed: Ebermann 2009 - rs80338903 Germline - - none - - DNA SEQ - - USH2 - PubMed: Ebermann 2009 Proband - - Canada - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Paternal (inferred) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Homozygous PubMed: Dreyer 2000 - rs80338903 Germline - - none - - DNA SEQ - - USH2 - PubMed: Dreyer 2000 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Maternal (inferred) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Homozygous PubMed: Dreyer 2000 - rs80338903 Germline - - none - - DNA SEQ - - USH2 - PubMed: Dreyer 2000 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Paternal (inferred) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Homozygous PubMed: Dreyer 2000 - rs80338903 Germline - - none - - DNA SEQ - - USH2 - PubMed: Dreyer 2000 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Maternal (inferred) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Homozygous PubMed: Dreyer 2000 - rs80338903 Germline - - none - - DNA SEQ - - USH2 - PubMed: Dreyer 2000 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous PubMed: Dreyer 2000 - rs80338903 Germline - - none - - DNA SEQ - - USH2 - PubMed: Dreyer 2000 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous PubMed: Dreyer 2000 - rs80338903 Germline - - none - - DNA SEQ - - USH2 - PubMed: Dreyer 2000 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous PubMed: Dreyer 2000 - rs80338903 Germline - - none - - DNA SEQ - - USH2 - PubMed: Dreyer 2000 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous PubMed: Dreyer 2000 - rs80338903 Germline - - none - - DNA SEQ - - USH2 - PubMed: Dreyer 2000 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous PubMed: Dreyer 2000 - rs80338903 Germline - - none - - DNA SEQ - - USH2 - PubMed: Dreyer 2000 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Paternal (inferred) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Homozygous PubMed: Dreyer 2001 - rs80338903 Germline - - none - - DNA SEQ - - USH2 - PubMed: Dreyer 2001 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Maternal (inferred) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Homozygous PubMed: Dreyer 2001 - rs80338903 Germline - - none - - DNA SEQ - - USH2 - PubMed: Dreyer 2001 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous PubMed: Dreyer 2000 - rs80338903 Germline - - none - - DNA SEQ - - USH2 - PubMed: Dreyer 2000 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous PubMed: Dreyer 2000 - rs80338903 Germline - - none - - DNA SEQ - - USH2 - PubMed: Dreyer 2000 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous PubMed: Dreyer 2000 - rs80338903 Germline - - none - - DNA SEQ - - USH2 - PubMed: Dreyer 2000 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Paternal (inferred) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Homozygous PubMed: Dreyer 2000 - rs80338903 Germline - - none - - DNA SEQ - - USH2 - PubMed: Dreyer 2000 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Maternal (inferred) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Homozygous PubMed: Dreyer 2000 - rs80338903 Germline - - none - - DNA SEQ - - USH2 - PubMed: Dreyer 2000 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Paternal (inferred) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Homozygous PubMed: Dreyer 2000 - rs80338903 Germline - - none - - DNA SEQ - - USH2 - PubMed: Dreyer 2000 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Maternal (inferred) - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Homozygous PubMed: Dreyer 2000 - rs80338903 Germline - - none - - DNA SEQ - - USH2 - PubMed: Dreyer 2000 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous PubMed: Dreyer 2001 - rs80338903 Germline - - none - - DNA SEQ - - USH2 - PubMed: Dreyer 2001 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous PubMed: Dreyer 2000 - rs80338903 Germline - - none - - DNA SEQ - - USH2 - PubMed: Dreyer 2000 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Unknown - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous PubMed: Dreyer 2000 - rs80338903 Germline - - none - - DNA SEQ - - USH2 - PubMed: Dreyer 2000 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
+/+ 13 c.2299del r.(?) p.(Glu767Serfs*21) Laminin EGF-like 5 (747-794) Parent #1 - pathogenic g.216420437del g.216247095del 2299delG - USH2A_000001 Heterozygous PubMed: Dreyer 2000 - rs80338903 Germline - - none - - DNA SEQ - - USH2 - PubMed: Dreyer 2000 Proband - - Denmark - - - - - 1 Anne-Françoise Roux
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11     Next › Last »

All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.