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.

234 entries on 3 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     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 42i c.8559-2A > r.(?) p.(?) - Paternal (confirmed) - likely pathogenic g.216051224T>C g.215877882T>C USH2A c.8559-2A >  - USH2A_000003 single heterozygous variant in a recessive gene PubMed: He 2020 - - Germline ? - - - - DNA SEQ blood - USH 1 PubMed: He 2020 - M - China - - - - - 1 LOVD
+?/. 42i c.8559-2A > r.(?) p.(?) - Unknown - likely pathogenic g.216051224T>C g.215877882T>C USH2A c.8559-2A >  - USH2A_000003 heterozygous PubMed: He 2020 - - Unknown ? - - - - DNA SEQ blood - USH 4 PubMed: He 2020 - F - China - - - - - 1 LOVD
+/+ 42i c.8559-2A>G r.(8559_8681del) p.(Tyr2854_Arg2894del) Fibronectin type-III 15 (2821-2920) Parent #1 - pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 Heterozygous PubMed: Dai 2008 - rs397518039 Germline - 0/200 controls - - - DNA SEQ - - USH2 - PubMed: Dai 2008 Proband M - China - - - - - 1 Anne-Françoise Roux
+/+ 42i c.8559-2A>G r.(8559_8681del) p.(Tyr2854_Arg2894del) Fibronectin type-III 15 (2821-2920) Parent #2 - pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 Heterozygous PubMed: Dai 2008 - rs397518039 Germline - 0/200 controls - - - DNA SEQ - - USH2 - PubMed: Dai 2008 Proband M - China - - - - - 1 Anne-Françoise Roux
+/+ 42i c.8559-2A>G r.(8559_8681del) p.(Tyr2854_Arg2894del) Fibronectin type-III 15 (2821-2920) Parent #2 - pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 Heterozygous PubMed: Dai 2008 - rs397518039 Germline - 0/200 controls - - - DNA SEQ - - USH2 - PubMed: Dai 2008 Relative F - China - - - - - 1 Anne-Françoise Roux
+/+ 42i c.8559-2A>G r.8559_8681del p.Tyr2854_Arg2894del Fibronectin type-III 15 (2821-2920) Parent #2 - pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 Heterozygous; E43 skipping (Nakanishi , 2010) PubMed: Nakanishi 2009 - rs397518039 Germline - 0/270 controls - - - DNA, RNA RT-PCR, SEQ - - USH2 - PubMed: Nakanishi 2009 Proband F - Japan - - - - - 1 Anne-Françoise Roux
+/+ 42i c.8559-2A>G r.(8559_8681del) p.(Tyr2854_Arg2894del) Fibronectin type-III 15 (2821-2920) Parent #1 - pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 Heterozygous PubMed: Nakanishi 2009 - rs397518039 Germline - 0/270 controls - - - DNA SEQ - - USH2 - PubMed: Nakanishi 2009 Proband F - Japan - - - - - 1 Anne-Françoise Roux
+/+ 42i c.8559-2A>G r.(8559_8681del) p.(Tyr2854_Arg2894del) Fibronectin type-III 15 (2821-2920) Parent #1 - pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 Heterozygous PubMed: Nakanishi 2009 - rs397518039 Germline - 0/270 controls - - - DNA SEQ - - USH2 - PubMed: Nakanishi 2009 Proband M - Japan - - - - - 1 Anne-Françoise Roux
+/+ 42i c.8559-2A>G r.(8559_8681del) p.(Tyr2854_Arg2894del) Fibronectin type-III 15 (2821-2920) Unknown - pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 Heterozygous PubMed: Nakanishi 2009 - rs397518039 Germline - 0/270 controls - - - DNA SEQ - - USH2 - PubMed: Nakanishi 2009 Proband M - Japan - - - - - 1 Anne-Françoise Roux
+/+ 42i c.8559-2A>G r.(8559_8681del) p.(Tyr2854_Arg2894del) Fibronectin type-III 15 (2821-2920) Paternal (inferred) - pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 Heterozygous; very likely pathogenic PubMed: Zhao 2014 - rs397518039 Germline - 0/400 controls - - - DNA SEQ - - USH1 - PubMed: Zhao 2014 Proband M - Japan - - - - - 1 Anne-Françoise Roux
+/? 42i c.8559-2A>G r.(8559_8681del) p.(Tyr2854_Arg2894del) Fibronectin type-III 15 (2821-2920) Maternal (inferred) - pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 Heterozygous; very likely pathogenic PubMed: Zhao 2014 - rs397518039 Germline - 0/400 controls - - - DNA SEQ - - USH1 - PubMed: Zhao 2014 Proband M - Japan - - - - - 1 Anne-Françoise Roux
+/+ 42i c.8559-2A>G r.(8559_8681del) p.(Tyr2854_Arg2894del) Fibronectin type-III 15 (2821-2920) Paternal (inferred) - pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 Heterozygous PubMed: Chen 2014 - rs397518039 Germline - 0/300 controls - - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Chen 2014 Proband F - China - - - - - 1 Anne-Françoise Roux
+/? 42i c.8559-2A>G r.(8559_8681del) p.(Tyr2854_Arg2894del) Fibronectin type-III 15 (2821-2920) Maternal (inferred) - pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 Heterozygous PubMed: Chen 2014 - rs397518039 Germline - 0/300 controls - - - DNA SEQ, SEQ-NG-S - - RPar - PubMed: Chen 2014 Proband F - China - - - - - 1 Anne-Françoise Roux
+/+ 42i c.8559-2A>G r.(8559_8681del) p.(Tyr2854_Arg2894del) Fibronectin type-III 15 (2821-2920) Maternal (confirmed) - pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 Heterozygous; mutation PubMed: Qu 2014 - rs397518039 Germline - - - - - DNA SEQ - - USH2 - PubMed: Qu 2014 Relative F - China - - - - - 1 Anne-Françoise Roux
+/+ 42i c.8559-2A>G r.(8559_8681del) p.(Tyr2854_Arg2894del) Fibronectin type-III 15 (2821-2920) Unknown - pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 Heterozygous; mutation PubMed: Qu 2014 - rs397518039 Germline - - - - - DNA SEQ - - USH2 - PubMed: Qu 2014 Relative M - China - - - - - 1 Anne-Françoise Roux
+/+ 42i c.8559-2A>G r.(8559_8681del) p.(Tyr2854_Arg2894del) Fibronectin type-III 15 (2821-2920) Parent #1 - pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 Heterozygous; mutation PubMed: Jiang 2015 - rs397518039 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband M - China - - - - - 1 Anne-Françoise Roux
+/+ 42i c.8559-2A>G r.(8559_8681del) p.(Tyr2854_Arg2894del) Fibronectin type-III 15 (2821-2920) Parent #1 - pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 Heterozygous; mutation PubMed: Jiang 2015 - rs397518039 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband M - China - - - - - 1 Anne-Françoise Roux
+/+ 42i c.8559-2A>G r.(8559_8681del) p.(Tyr2854_Arg2894del) Fibronectin type-III 15 (2821-2920) Parent #2 - pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 Heterozygous; mutation PubMed: Jiang 2015 - rs397518039 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband M - China - - - - - 1 Anne-Françoise Roux
+/+ 42i c.8559-2A>G r.(8559_8681del) p.(Tyr2854_Arg2894del) Fibronectin type-III 15 (2821-2920) Parent #1 - pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 Heterozygous; mutation PubMed: Jiang 2015 - rs397518039 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband M - China - - - - - 1 Anne-Françoise Roux
+/+ 42i c.8559-2A>G r.(8559_8681del) p.(Tyr2854_Arg2894del) Fibronectin type-III 15 (2821-2920) Parent #1 - pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 Heterozygous; mutation PubMed: Jiang 2015 - rs397518039 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband F - China - - - - - 1 Anne-Françoise Roux
+/+ 42i c.8559-2A>G r.(8559_8681del) p.(Tyr2854_Arg2894del) Fibronectin type-III 15 (2821-2920) Parent #1 - pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 Heterozygous; mutation PubMed: Jiang 2015 - rs397518039 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband F - China - - - - - 1 Anne-Françoise Roux
+/+ 42i c.8559-2A>G r.(8559_8681del) p.(Tyr2854_Arg2894del) Fibronectin type-III 15 (2821-2920) Parent #1 - pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 Heterozygous; mutation PubMed: Jiang 2015 - rs397518039 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband F - China - - - - - 1 Anne-Françoise Roux
+/+ 42i c.8559-2A>G r.(8559_8681del) p.(Tyr2854_Arg2894del) Fibronectin type-III 15 (2821-2920) Parent #1 - pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 Heterozygous; mutation PubMed: Jiang 2015 - rs397518039 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband M - China - - - - - 1 Anne-Françoise Roux
+/+ 42i c.8559-2A>G r.(8559_8681del) p.(Tyr2854_Arg2894del) Fibronectin type-III 15 (2821-2920) Parent #2 - pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 Heterozygous; mutation PubMed: Jiang 2015 - rs397518039 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband M - China - - - - - 1 Anne-Françoise Roux
+/+ 42i c.8559-2A>G r.(8559_8681del) p.(Tyr2854_Arg2894del) Fibronectin type-III 15 (2821-2920) Parent #2 - pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 Heterozygous; mutation PubMed: Jiang 2015 - rs397518039 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband M - China - - - - - 1 Anne-Françoise Roux
+/+ 42i c.8559-2A>G r.(8559_8681del) p.(Tyr2854_Arg2894del) Fibronectin type-III 15 (2821-2920) Parent #1 - pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 Heterozygous; mutation PubMed: Jiang 2015 - rs397518039 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband M - China - - - - - 1 Anne-Françoise Roux
+/. - c.8559-2A>G r.spl? p.? - Unknown - pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs397518039 Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
+/. 42i c.8559-2A>G r.spl? p.? - Both (homozygous) - pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs397518039 Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
+/. - c.8559-2A>G r.spl? p.? - Unknown - pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.8559-2A>G r.spl p.? - Parent #2 ACMG pathogenic (recessive) g.216051224T>C g.215877882T>C - - USH2A_000003 ACMG PM2_P, PM3_VS, PM4, PP1_S, PP4 PubMed: Kim 2020, Journal: Kim 2020 - - Germline - - - - - DNA SEQ-NG-I - - deafness SB203-396 PubMed: Kim 2020, Journal: Kim 2020 - - - Korea - - - - - 1 Doo-Yi Oh
+/. - c.8559-2A>G r.spl p.? - Parent #1 ACMG pathogenic (recessive) g.216051224T>C g.215877882T>C - - USH2A_000003 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ - - HL 19152 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+/. - c.8559-2A>G r.spl p.? - Both (homozygous) ACMG pathogenic (recessive) g.216051224T>C g.215877882T>C - - USH2A_000003 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19441 PubMed: Sun 2018 family - no China - - - - - 1 LOVD
+/. - c.8559-2A>G r.spl p.? - Both (homozygous) ACMG pathogenic (recessive) g.216051224T>C g.215877882T>C - - USH2A_000003 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ - - HL 19518 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+/. - c.8559-2A>G r.spl p.? - Parent #1 ACMG pathogenic (recessive) g.216051224T>C g.215877882T>C - - USH2A_000003 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ - - HL 19578 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+/. - c.8559-2A>G r.spl p.? - Parent #1 ACMG pathogenic (recessive) g.216051224T>C g.215877882T>C - - USH2A_000003 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ - - HL 19684 PubMed: Sun 2018 family - no China - - - - - 1 LOVD
+/. - c.8559-2A>G r.spl p.? - Parent #1 ACMG pathogenic (recessive) g.216051224T>C g.215877882T>C - - USH2A_000003 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ - - HL 19758 PubMed: Sun 2018 family - no China - - - - - 1 LOVD
+/. - c.8559-2A>G r.spl p.? - Parent #1 ACMG pathogenic (recessive) g.216051224T>C g.215877882T>C - - USH2A_000003 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ - - HL 191001 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+/. - c.8559-2A>G r.spl p.? - Parent #1 ACMG pathogenic (recessive) g.216051224T>C g.215877882T>C - - USH2A_000003 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ - - HL 73021 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+/. - c.8559-2A>G r.spl p.? - Both (homozygous) ACMG pathogenic (recessive) g.216051224T>C g.215877882T>C - - USH2A_000003 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ - - HL 73051 PubMed: Sun 2018 sporadic case - yes China - - - - - 1 LOVD
+/. - c.8559-2A>G r.spl p.? - Parent #2 ACMG pathogenic (recessive) g.216051224T>C g.215877882T>C - - USH2A_000003 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ - - HL 19893 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+/. - c.8559-2A>G r.spl p.? - Parent #2 ACMG pathogenic (recessive) g.216051224T>C g.215877882T>C - - USH2A_000003 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19300 PubMed: Sun 2018 family - no China - - - - - 1 LOVD
+/. - c.8559-2A>G r.spl p.? - Unknown ACMG pathogenic (recessive) g.216051224T>C g.215877882T>C - - USH2A_000003 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19116 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+/. - c.8559-2A>G r.spl p.? - Parent #2 ACMG pathogenic (recessive) g.216051224T>C g.215877882T>C - - USH2A_000003 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19623 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+/. - c.8559-2A>G r.spl p.? - Parent #2 ACMG pathogenic (recessive) g.216051224T>C g.215877882T>C - - USH2A_000003 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19407 PubMed: Sun 2018 family - no China - - - - - 1 LOVD
+/. - c.8559-2A>G r.spl p.? - Parent #2 ACMG pathogenic (recessive) g.216051224T>C g.215877882T>C - - USH2A_000003 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19381 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+/. - c.8559-2A>G r.spl p.? - Unknown ACMG pathogenic (recessive) g.216051224T>C g.215877882T>C - - USH2A_000003 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ - - HL 19198 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+/. - c.8559-2A>G r.spl p.? - Unknown ACMG pathogenic (recessive) g.216051224T>C g.215877882T>C - - USH2A_000003 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ - - HL 19651 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+/. - c.8559-2A>G r.spl p.? - Parent #2 ACMG pathogenic (recessive) g.216051224T>C g.215877882T>C - - USH2A_000003 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ - - HL 73036 PubMed: Sun 2018 family - no China - - - - - 1 LOVD
+/. - c.8559-2A>G r.spl p.? - Parent #2 ACMG pathogenic (recessive) g.216051224T>C g.215877882T>C - - USH2A_000003 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ-NG - - HL 19395 PubMed: Sun 2018 family - no China - - - - - 1 LOVD
+/. - c.8559-2A>G r.spl p.? - Parent #2 ACMG pathogenic (recessive) g.216051224T>C g.215877882T>C - - USH2A_000003 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ - - HL 19954 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+/. - c.8559-2A>G r.spl p.? - Unknown ACMG pathogenic (recessive) g.216051224T>C g.215877882T>C - - USH2A_000003 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ - - HL 19026 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+/. - c.8559-2A>G r.spl p.? - Parent #2 ACMG pathogenic (recessive) g.216051224T>C g.215877882T>C - - USH2A_000003 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ - - HL 19771 PubMed: Sun 2018 sporadic case - no China - - - - - 1 LOVD
+/. - c.8559-2A>G r.spl p.? - Parent #2 ACMG pathogenic (recessive) g.216051224T>C g.215877882T>C - - USH2A_000003 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ - - HL 19919 PubMed: Sun 2018 family - no China - - - - - 1 LOVD
+?/. - c.8559-2A>G r.spl p.? - Parent #2 - likely pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 - PubMed: Soens 2017 - - Germline - - - - - DNA SEQ - - retinal disease SRF_1687 PubMed: Soens 2017 possible duplicate - - - - - - - - 1 LOVD
+?/. - c.8559-2A>G r.spl p.? - Parent #2 - likely pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 - PubMed: Huang 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP-028 PubMed: Huang 2017 family - - China - - - - - 1 LOVD
+?/. 42i c.8559-2A>G r.spl p.? - Parent #1 - likely pathogenic (recessive) g.216051224T>C g.215877882T>C - - USH2A_000003 - PubMed: Yang 2015 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP71 PubMed: Yang 2015 family F - China Han - - - - 1 LOVD
+?/. - c.8559-2A>G r.spl p.? - Both (homozygous) - likely pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 - PubMed: Huang 2015 - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W176-1 PubMed: Huang 2015 - M yes China - - - - - 1 LOVD
+?/. - c.8559-2A>G r.spl p.? - Parent #1 - likely pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 - PubMed: Huang 2015 - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W272-1 PubMed: Huang 2015 - M - China - - - - - 1 LOVD
+?/. - c.8559-2A>G r.spl p.? - Parent #2 - likely pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 - - - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease F7-1 PubMed: Huang 2015 - M - China - - - - - 1 LOVD
+/. - c.8559-2A>G r.spl p.? - Parent #1 - pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K6179 PubMed: Oishi 2014 simplex case - - Japan - - - - - 1 LOVD
+/. - c.8559-2A>G r.spl p.? - Parent #1 - pathogenic g.216051224T>C g.215877882T>C - - USH2A_000003 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K6415 PubMed: Oishi 2014 family - - Japan - - - - - 1 LOVD
+?/. - c.8559-2A>G r.spl? p.? - Unknown ACMG VUS g.216051224T>C - - - USH2A_000003 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_GH_0035 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.8559-2A>G r.spl? p.? - Unknown ACMG VUS g.216051224T>C - - - USH2A_000003 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_GS_0063 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+/. 42i c.8559-2A>G r.spl p.? - Unknown ACMG pathogenic g.216051224T>C g.215877882T>C NM_206933.2:c.8559-2A>G, NP_996816.2:p.?, NC_000001.10:g.216051224T>C - USH2A_000003 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016060109 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+/. 42i c.8559-2A>G r.spl p.? - Both (homozygous) ACMG pathogenic g.216051224T>C g.215877882T>C NM_206933.2:c.8559-2A>G, NP_996816.2:p.?, NC_000001.10:g.216051224T>C - USH2A_000003 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - exome sequencing retinal disease 2016092613 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+/. 42i c.8559-2A>G r.spl p.? - Unknown ACMG pathogenic g.216051224T>C g.215877882T>C NM_206933.2:c.8559-2A>G, NP_996816.2:p.?, NC_000001.10:g.216051224T>C - USH2A_000003 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - exome sequencing retinal disease 2016101006 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+/. 42i c.8559-2A>G r.spl p.? - Unknown ACMG pathogenic g.216051224T>C g.215877882T>C NM_206933.2:c.8559-2A>G, NP_996816.2:p.?, NC_000001.10:g.216051224T>C - USH2A_000003 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - exome sequencing retinal disease 2016101007 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+/. 42i c.8559-2A>G r.spl p.? - Unknown ACMG pathogenic g.216051224T>C g.215877882T>C NM_206933.2:c.8559-2A>G, NP_996816.2:p.?, NC_000001.10:g.216051224T>C - USH2A_000003 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - exome sequencing retinal disease 2016101011 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+/. 42i c.8559-2A>G r.spl p.? - Both (homozygous) ACMG pathogenic g.216051224T>C g.215877882T>C NM_206933.2:c.8559-2A>G, NP_996816.2:p.?, NC_000001.10:g.216051224T>C - USH2A_000003 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - exome sequencing retinal disease 2016101016 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+/. 42i c.8559-2A>G r.spl p.? - Both (homozygous) ACMG pathogenic g.216051224T>C g.215877882T>C NM_206933.2:c.8559-2A>G, NP_996816.2:p.?, NC_000001.10:g.216051224T>C - USH2A_000003 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - exome sequencing retinal disease 2016101017 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+/. 42i c.8559-2A>G r.spl p.? - Unknown ACMG pathogenic g.216051224T>C g.215877882T>C NM_206933.2:c.8559-2A>G, NP_996816.2:p.?, NC_000001.10:g.216051224T>C - USH2A_000003 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - exome sequencing retinal disease 2016101023 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+/. 42i c.8559-2A>G r.spl p.? - Both (homozygous) ACMG pathogenic g.216051224T>C g.215877882T>C NM_206933.2:c.8559-2A>G, NP_996816.2:p.?, NC_000001.10:g.216051224T>C - USH2A_000003 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016112813 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+/. 42i c.8559-2A>G r.spl p.? - Both (homozygous) ACMG pathogenic g.216051224T>C g.215877882T>C NM_206933.2:c.8559-2A>G, NP_996816.2:p.?, NC_000001.10:g.216051224T>C - USH2A_000003 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016112814 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+/. 42i c.8559-2A>G r.spl p.? - Unknown ACMG pathogenic g.216051224T>C g.215877882T>C NM_206933.2:c.8559-2A>G, NP_996816.2:p.?, NC_000001.10:g.216051224T>C - USH2A_000003 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016121915 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+/. 42i c.8559-2A>G r.spl p.? - Unknown ACMG pathogenic g.216051224T>C g.215877882T>C NM_206933.2:c.8559-2A>G, NP_996816.2:p.?, NC_000001.10:g.216051224T>C - USH2A_000003 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2017010403 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+?/. - c.8559-2A>G r.spl p.(?) - Unknown - likely pathogenic g.216051224T>C g.215877882T>C c.8559-2A>G - USH2A_000003 heterozygous PubMed: Gao 2019 - - Germline ? - - - - DNA SEQ-NG - - retinal disease RD17031999_A PubMed: Gao 2019 - ? - China - - - - - 1 LOVD
+?/. - c.8559-2A>G r.spl p.(?) - Unknown - likely pathogenic g.216051224T>C g.215877882T>C c.8559-2A>G - USH2A_000003 heterozygous PubMed: Gao 2019 - - Germline ? - - - - DNA SEQ-NG - - retinal disease RS0170500029 PubMed: Gao 2019 - ? - China - - - - - 1 LOVD
+/. - c.8559-2A>G r.spl p.(?) - Unknown - pathogenic g.216051224T>C g.215877882T>C c.8559-2T>C, p.? - USH2A_000003 compound heterozygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13012 PubMed: Wang 2019 - F - China - - - - - 1 LOVD
+?/. - c.8559-2A>G r.(?) p.(?) - Parent #2 - likely pathogenic g.216051224T>C g.215877882T>C USH2A:splicing:c.8559-2A>G - USH2A_000003 compound heterozygous PubMed: Chen 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease F6-II-2 PubMed: Chen 2020 - F - Taiwan - - - - - 1 LOVD
+?/. - c.8559-2A>G r.(?) p.(?) - Parent #2 - likely pathogenic g.216051224T>C g.215877882T>C USH2A:splicing:c.8559-2A>G - USH2A_000003 compound heterozygous PubMed: Chen 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease F12-II-3 PubMed: Chen 2020 - M - Taiwan - - - - - 1 LOVD
+/. 42i c.8559-2A>G r.spl p.(?) - Unknown ACMG pathogenic g.216051224T>C g.215877882T>C USH2A c.8559-2A>G, - - USH2A_000003 heterozygous PubMed: Dan 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG blood Whole exome sequencing retinal disease 109 PubMed: Dan 2020 - M ? China - - - - - 1 LOVD
+/. 42i c.8559-2A>G r.spl p.(?) - Unknown ACMG pathogenic g.216051224T>C g.215877882T>C USH2A c.8559-2A>G, - - USH2A_000003 heterozygous PubMed: Dan 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG blood Panel 6 containing 386 genes retinal disease 146 PubMed: Dan 2020 - F ? China - - - - - 1 LOVD
+/. 42i c.8559-2A>G r.spl p.(?) - Unknown ACMG pathogenic g.216051224T>C g.215877882T>C USH2A c.8559-2A>G, - - USH2A_000003 heterozygous PubMed: Dan 2020 - - Germline/De novo (untested) yes - - - - DNA SEQ-NG blood Panel 1 containing 70 genes retinal disease 27 PubMed: Dan 2020 - M ? China - - - - - 1 LOVD
+/. 42i c.8559-2A>G r.spl p.(?) - Unknown ACMG pathogenic g.216051224T>C g.215877882T>C USH2A c.8559-2A>G, - - USH2A_000003 heterozygous PubMed: Dan 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG blood Panel 5 containing 429 genes retinal disease 117 PubMed: Dan 2020 - M no China - - - - - 1 LOVD
+/. 42i c.8559-2A>G r.spl p.(?) - Unknown ACMG pathogenic g.216051224T>C g.215877882T>C USH2A c.8559-2A>G, - - USH2A_000003 heterozygous PubMed: Dan 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG blood Whole exome sequencing retinal disease 118 PubMed: Dan 2020 - M ? China - - - - - 1 LOVD
+/. 42i c.8559-2A>G r.(?) p.? - Unknown ACMG pathogenic g.215877882T>C g.215877882T>C USH2A c.8559-2A > G, _, heterozygous - USH2A_000003 - PubMed: Sun 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 17 PubMed: Sun 2020 - F - China - - - - - 1 LOVD
+/. 42i c.8559-2A>G r.(?) p.? - Unknown ACMG pathogenic g.215877882T>C g.215877882T>C USH2A c.8559-2A > G, _, heterozygous - USH2A_000003 - PubMed: Sun 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 19 PubMed: Sun 2020 - M - China - - - - - 1 LOVD
+?/. - c.8559-2A>G r.spl p.(?) - Parent #1 - likely pathogenic g.216051224T>C g.215877882T>C USH2A, variant 1: c.8559-2A>G/p.?, variant 2: c.11105G>A/p.W3702* - USH2A_000003 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET6 targeted sequencing panel - see paper retinal disease 671 PubMed: Weisschuh 2020 Filing key number: 239, Usher syndrome type 2, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+/. - c.8559-2A>G r.spl p.? - Unknown ACMG pathogenic g.216051224T>C g.215877882T>C USH2A c.8559-2A>G, . - USH2A_000003 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 73 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
+/. - c.8559-2A>G r.spl p.? - Unknown ACMG pathogenic g.216051224T>C g.215877882T>C USH2A c.8559-2A>G, . - USH2A_000003 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 170 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
+?/. 42i c.8559-2A>G r.spl? p.? - Both (homozygous) - likely pathogenic (recessive) g.216051224T>C - c.8559-2A>G - USH2A_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - WES retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 42i c.8559-2A>G r.spl? p.? - Unknown - likely pathogenic (recessive) g.216051224T>C - c.8559-2A>G - USH2A_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - WES retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 42i c.8559-2A>G r.spl? p.? - Unknown - likely pathogenic (recessive) g.216051224T>C - c.8559-2A>G - USH2A_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - WES retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 42i c.8559-2A>G r.spl? p.? - Unknown - likely pathogenic (recessive) g.216051224T>C - c.8559-2A>G - USH2A_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - WES retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 42i c.8559-2A>G r.spl? p.? - Both (homozygous) - likely pathogenic (recessive) g.216051224T>C - c.8559-2A>G - USH2A_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - WES retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 42i c.8559-2A>G r.spl? p.? - Both (homozygous) - likely pathogenic (recessive) g.216051224T>C - c.8559-2A>G - USH2A_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - WES retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 42i c.8559-2A>G r.spl? p.? - Unknown - likely pathogenic (recessive) g.216051224T>C - c.8559-2A>G - USH2A_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - WES retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 42i c.8559-2A>G r.spl? p.? - Unknown - likely pathogenic (recessive) g.216051224T>C - c.8559-2A>G - USH2A_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 42i c.8559-2A>G r.spl? p.? - Both (homozygous) - likely pathogenic (recessive) g.216051224T>C - c.8559-2A>G - USH2A_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 42i c.8559-2A>G r.spl? p.? - Both (homozygous) - likely pathogenic (recessive) g.216051224T>C - c.8559-2A>G - USH2A_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
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All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.


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