Full data view for gene SYN3

Information The variants shown are described using the NM_001135774.1 transcript reference sequence.

194 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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.311+6619C>T r.(=) p.(=) Unknown - VUS g.33395718G>A g.32999733G>A - - SYN3_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.708+3505C>A r.(=) p.(=) Parent #1 - likely benign g.33257397G>T g.32861410G>T - - SYN3_000014 9 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140989943 Germline - 9/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 9 Mohammed Faruq
?/. - c.708+5564T>A r.(=) p.(=) Unknown - VUS g.33255338A>T - - - SYN3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA ? - retrospective study retinal disease ? PubMed: Felbor 1997 patients with common British ancestry: Buckinghamshire, England ? - - English - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA ? - retrospective study retinal disease ? PubMed: Felbor 1997 patients with common British ancestry: Yorkshire, England ? - - English - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA ? - retrospective study retinal disease ? PubMed: Felbor 1997 patients with common British ancestry: Cambria, England ? - - English - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA ? - retrospective study retinal disease ? PubMed: Felbor 1997 patients with common British ancestry: Canada ? - - Canadian - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA ? - retrospective study retinal disease ? PubMed: Felbor 1997 patients with common British ancestry: South Africa ? - - South African - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA ? - retrospective study retinal disease ? PubMed: Felbor 1997 patients with common British ancestry: Oregon, United States ? - - American - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 S181C - SYN3_000016 - PubMed: Langton 2000 - - In vitro (cloned) ? - - - - DNA ? - - retinal disease ? PubMed: Langton 2000 cell line investigation - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 1 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 2 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 3 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 4 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 5 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 6 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 7 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 8 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 9 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 10 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 11 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 12 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 13 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 14 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 15 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 16 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 17 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 18 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 19 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 20 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 21 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 22 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 23 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 24 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 25 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 26 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 27 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 28 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 29 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 30 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 31 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 32 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 33 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 34 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 35 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 36 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 37 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 38 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 39 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 40 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 41 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 Ser181Cys - SYN3_000016 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Sivaprasad 2008 - - Germline yes - - - - DNA ? - retrospective study retinal disease 42 PubMed: Sivaprasad 2008 only first six patients mentioned separately, the other ones in a a group - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 c.610A>T - SYN3_000016 heterozygous PubMed: Menassa 2017 - - Germline yes - - - - DNA ? - - retinal disease ? PubMed: Menassa 2017 - M - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Unknown - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 c.610A>T, p.(Ser204Cys) - SYN3_000016 excess accumulation of mutant TIMP3, rather than an absence or deficiency of functional TIMP3, drives extracellular matrix and angiogenesis-related changes in Sorsby fundus dystrophy PubMed: Hongisto 2020 - - In vitro (cloned) ? - - - - DNA ? - - retinal disease ? PubMed: Hongisto 2020 - - - - - - - - - 1 LOVD
+?/. - c.708+5564T>A r.(=) p.(=) Maternal (inferred) - likely pathogenic g.33255338A>T g.32859351A>T TIMP3 610A>T; p.(Ser204Cys) - SYN3_000016 - PubMed: Spaide 2021 - - Germline yes - - - - DNA ? - - retinal disease ? PubMed: Spaide 2021 - F - - English, Scottish - - - - 1 LOVD
?/. - c.708+5588G>A r.(=) p.(=) Unknown - VUS g.33255314C>T g.32859327C>T TIMP3(NM_000362.4):c.586C>T (p.R196*) - SYN3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.708+5590T>C r.(=) p.(=) Unknown - likely pathogenic g.33255312A>G g.32859325A>G TIMP3 Y172C - SYN3_000028 obsolete protein annotation, nucleotide and protein annotation extrapolated from databases; heterozygous PubMed: Jacobson 2002 - - Germline yes - - - - DNA SEQ blood - retinal disease III:4 PubMed: Jacobson 2002 proband's brother 1 M - - - - - - - 1 LOVD
+?/. - c.708+5590T>C r.(=) p.(=) Unknown - likely pathogenic g.33255312A>G g.32859325A>G TIMP3 Y172C - SYN3_000028 obsolete protein annotation, nucleotide and protein annotation extrapolated from databases; heterozygous PubMed: Jacobson 2002 - - Germline yes - - - - DNA SEQ blood - retinal disease III:5 PubMed: Jacobson 2002 proband F - - - - - - - 1 LOVD
+?/. - c.708+5590T>C r.(=) p.(=) Unknown - likely pathogenic g.33255312A>G g.32859325A>G TIMP3 Y172C - SYN3_000028 obsolete protein annotation, nucleotide and protein annotation extrapolated from databases; heterozygous PubMed: Jacobson 2002 - - Germline yes - - - - DNA SEQ blood - retinal disease III:6 PubMed: Jacobson 2002 proband's sister 2 F - - - - - - - 1 LOVD
+?/. - c.708+5590T>C r.(=) p.(=) Unknown - likely pathogenic g.33255312A>G g.32859325A>G TIMP3 Y172C - SYN3_000028 obsolete protein annotation, nucleotide and protein annotation extrapolated from databases; heterozygous PubMed: Jacobson 2002 - - Germline yes - - - - DNA SEQ blood - retinal disease III:7 PubMed: Jacobson 2002 proband's brother 2 M - - - - - - - 1 LOVD
+?/. - c.708+5590T>C r.(=) p.(=) Unknown - likely pathogenic g.33255312A>G g.32859325A>G TIMP3 Y172C - SYN3_000028 obsolete protein annotation, nucleotide and protein annotation extrapolated from databases; heterozygous PubMed: Jacobson 2002 - - Germline yes - - - - DNA SEQ blood - retinal disease IV:10 PubMed: Jacobson 2002 son of proband's sister 1 M - - - - - - - 1 LOVD
+?/. - c.708+5590T>C r.(=) p.(=) Unknown - likely pathogenic g.33255312A>G g.32859325A>G TIMP3 Y172C - SYN3_000028 obsolete protein annotation, nucleotide and protein annotation extrapolated from databases; heterozygous PubMed: Jacobson 2002 - - Germline yes - - - - DNA SEQ blood - retinal disease IV:12 PubMed: Jacobson 2002 proband's son M - - - - - - - 1 LOVD
+?/. - c.708+5590T>C r.(=) p.(=) Unknown - likely pathogenic g.33255312A>G g.32859325A>G TIMP3 Y172C - SYN3_000028 obsolete protein annotation, nucleotide and protein annotation extrapolated from databases; heterozygous PubMed: Jacobson 2002 - - Germline yes - - - - DNA SEQ blood - retinal disease IV:14 PubMed: Jacobson 2002 son 1 of proband's sister 2 M - - - - - - - 1 LOVD
+?/. - c.708+5590T>C r.(=) p.(=) Unknown - likely pathogenic g.33255312A>G g.32859325A>G TIMP3 Y172C - SYN3_000028 obsolete protein annotation, nucleotide and protein annotation extrapolated from databases; heterozygous PubMed: Jacobson 2002 - - Germline yes - - - - DNA SEQ blood - retinal disease IV:16 PubMed: Jacobson 2002 son 2 of proband's sister 2 M - - - - - - - 1 LOVD
+?/. - c.708+5597T>A r.(=) p.(=) Maternal (confirmed) - likely pathogenic g.33255305A>T g.32859318A>T TIMP3 c.508A>T, Ser170Cys - SYN3_000027 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Barbazetto 2005 - - Germline yes - - - - DNA SEQ blood - retinal disease III:1 PubMed: Barbazetto 2005 proband M - - - - - - - 1 LOVD
+?/. - c.708+5597T>A r.(=) p.(=) Unknown - likely pathogenic g.33255305A>T g.32859318A>T TIMP3 c.508A>T, Ser170Cys - SYN3_000027 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Barbazetto 2005 - - Germline yes - - - - DNA SEQ blood - retinal disease II:2 PubMed: Barbazetto 2005 proband's mother F - - - - - - - 1 LOVD
+?/. - c.708+5602T>C r.(=) p.(=) Unknown - likely pathogenic g.33255300A>G g.32859313A>G TIMP3 c.572A>G (p.Y191C) - TIMP3_000001 heterozygous PubMed: Meunier 2016 - - Germline yes - - - - DNA SEQ blood - retinal disease 1_III:1 PubMed: Meunier 2016 Family 1, individual III:1 M - - - - - - - 1 LOVD
+?/. - c.708+5602T>C r.(=) p.(=) Unknown - likely pathogenic g.33255300A>G g.32859313A>G TIMP3 c.572A>G (p.Y191C) - TIMP3_000001 heterozygous PubMed: Meunier 2016 - - Germline yes - - - - DNA SEQ blood - retinal disease 1_III:2 PubMed: Meunier 2016 Family 1, individual III:2 F - - - - - - - 1 LOVD
+?/. - c.708+5602T>C r.(=) p.(=) Unknown - likely pathogenic g.33255300A>G g.32859313A>G TIMP3 c.572A>G (p.Y191C) - TIMP3_000001 heterozygous PubMed: Meunier 2016 - - Germline yes - - - - DNA SEQ blood - retinal disease 1_III:3 PubMed: Meunier 2016 Family 1, individual III:3 M - - - - - - - 1 LOVD
+?/. - c.708+5602T>C r.(=) p.(=) Unknown - likely pathogenic g.33255300A>G g.32859313A>G TIMP3 c.572A>G (p.Y191C) - TIMP3_000001 heterozygous PubMed: Meunier 2016 - - Germline yes - - - - DNA SEQ blood - retinal disease 1_III:4 PubMed: Meunier 2016 Family 1, individual III:4 F - - - - - - - 1 LOVD
+?/. - c.708+5602T>C r.(=) p.(=) Unknown - likely pathogenic g.33255300A>G g.32859313A>G TIMP3 c.572A>G (p.Y191C) - TIMP3_000001 heterozygous PubMed: Meunier 2016 - - Germline yes - - - - DNA SEQ blood - retinal disease 1_IV:1 PubMed: Meunier 2016 Family 1, individual IV:1 M - - - - - - - 1 LOVD
+?/. - c.708+5602T>C r.(=) p.(=) Unknown - likely pathogenic g.33255300A>G g.32859313A>G TIMP3 c.572A>G (p.Y191C) - TIMP3_000001 heterozygous PubMed: Meunier 2016 - - Germline yes - - - - DNA SEQ blood - retinal disease 1_V:1 PubMed: Meunier 2016 Family 1, individual V:1 M - - - - - - - 1 LOVD
+?/. - c.708+5602T>C r.(=) p.(=) Unknown - likely pathogenic g.33255300A>G g.32859313A>G TIMP3 c.572A>G (p.Y191C) - TIMP3_000001 heterozygous PubMed: Meunier 2016 - - Germline yes - - - - DNA SEQ blood - retinal disease 1_V:2 PubMed: Meunier 2016 Family 1, individual V:2 M - - - - - - - 1 LOVD
?/. - c.708+5606C>T r.(=) p.(=) Unknown - VUS g.33255296G>A - TIMP3(NM_000362.5):c.568G>A (p.G190S) - SYN3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.708+5606C>T r.(=) p.(=) Maternal (inferred) - likely pathogenic g.33255296G>A g.32859309G>A substitution of T for G in the first position ofcodon 167 ofthe TIMP3 gene - SYN3_000018 no nucleotide annotation, no protein annotation, error (T to G mentioned in the paper while it should be G>A according to ClinVar), extrapolated from protein and ClinVar database; heterozygous PubMed: Jacobson 1995 - - Germline yes - - - - DNA ? - - retinal disease II:1 PubMed: Jacobson 1995 - F - - - - - - vitamin A supplementation 1 LOVD
+?/. - c.708+5606C>T r.(=) p.(=) Maternal (inferred) - likely pathogenic g.33255296G>A g.32859309G>A substitution of T for G in the first position ofcodon 167 ofthe TIMP3 gene - SYN3_000018 no nucleotide annotation, no protein annotation, error (G to T mentioned in the paper while it should be G>A according to ClinVar), extrapolated from protein and ClinVar database; heterozygous PubMed: Jacobson 1995 - - Germline yes - - - - DNA ? - - retinal disease II:2 PubMed: Jacobson 1995 - M - - - - - - vitamin A supplementation 1 LOVD
+?/. - c.708+5606C>T r.(=) p.(=) Maternal (confirmed) - likely pathogenic g.33255296G>A g.32859309G>A substitution of T for G in the first position ofcodon 167 ofthe TIMP3 gene - SYN3_000018 no nucleotide annotation, no protein annotation, error (G to T mentioned in the paper while it should be G>A according to ClinVar), extrapolated from protein and ClinVar database; heterozygous PubMed: Jacobson 1995 - - Germline yes - - - - DNA ? - - retinal disease III:1 PubMed: Jacobson 1995 - F - - - - - - vitamin A supplementation 1 LOVD
+?/. - c.708+5606C>T r.(=) p.(=) Maternal (confirmed) - likely pathogenic g.33255296G>A g.32859309G>A substitution of T for G in the first position ofcodon 167 ofthe TIMP3 gene - SYN3_000018 no nucleotide annotation, no protein annotation, error (G to T mentioned in the paper while it should be G>A according to ClinVar), extrapolated from protein and ClinVar database; heterozygous PubMed: Jacobson 1995 - - Germline yes - - - - DNA ? - - retinal disease III:2 PubMed: Jacobson 1995 - M - - - - - - vitamin A supplementation 1 LOVD
+?/. - c.708+5606C>T r.(=) p.(=) Paternal (confirmed) - likely pathogenic g.33255296G>A g.32859309G>A substitution of T for G in the first position ofcodon 167 ofthe TIMP3 gene - SYN3_000018 no nucleotide annotation, no protein annotation, error (G to T mentioned in the paper while it should be G>A according to ClinVar), extrapolated from protein and ClinVar database; heterozygous PubMed: Jacobson 1995 - - Germline yes - - - - DNA ? - - retinal disease III:5 PubMed: Jacobson 1995 - M - - - - - - vitamin A supplementation 1 LOVD
+?/. - c.708+5606C>T r.(=) p.(=) Paternal (confirmed) - likely pathogenic g.33255296G>A g.32859309G>A substitution of T for G in the first position ofcodon 167 ofthe TIMP3 gene - SYN3_000018 no nucleotide annotation, no protein annotation, error (G to T mentioned in the paper while it should be G>A according to ClinVar), extrapolated from protein and ClinVar database; heterozygous PubMed: Jacobson 1995 - - Germline yes - - - - DNA ? - - retinal disease IV:3 PubMed: Jacobson 1995 - M - - - - - - vitamin A supplementation 1 LOVD
+?/. - c.708+5609C>A r.(=) p.(=) Maternal (confirmed) - likely pathogenic g.33255293G>T g.32859306G>T TIMP3 Gly166Cys - SYN3_000026 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA SEQ, STR, SSCA, RFLP - - retinal disease III-4 PubMed: Felbor 1997 Finnish family, child 1 ? - Finland - - - - - 1 LOVD
+?/. - c.708+5609C>A r.(=) p.(=) Maternal (confirmed) - likely pathogenic g.33255293G>T g.32859306G>T TIMP3 Gly166Cys - SYN3_000026 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA SEQ, STR, SSCA, RFLP - - retinal disease III-6 PubMed: Felbor 1997 Finnish family, child 2 ? - Finland - - - - - 1 LOVD
+?/. - c.708+5609C>A r.(=) p.(=) Maternal (confirmed) - likely pathogenic g.33255293G>T g.32859306G>T TIMP3 Gly166Cys - SYN3_000026 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA SEQ, STR, SSCA, RFLP - - retinal disease III-7 PubMed: Felbor 1997 Finnish family, child 3 ? - Finland - - - - - 1 LOVD
+?/. - c.708+5609C>A r.(=) p.(=) Maternal (confirmed) - likely pathogenic g.33255293G>T g.32859306G>T TIMP3 Gly166Cys - SYN3_000026 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA SEQ, STR, SSCA, RFLP - - retinal disease III-8 PubMed: Felbor 1997 Finnish family, child 4 ? - Finland - - - - - 1 LOVD
+?/. - c.708+5609C>A r.(=) p.(=) Maternal (confirmed) - likely pathogenic g.33255293G>T g.32859306G>T TIMP3 Gly166Cys - SYN3_000026 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA SEQ, STR, SSCA, RFLP - - retinal disease III-10 PubMed: Felbor 1997 Finnish family, child 5 ? - Finland - - - - - 1 LOVD
+?/. - c.708+5609C>A r.(=) p.(=) Maternal (confirmed) - likely pathogenic g.33255293G>T g.32859306G>T TIMP3 Gly166Cys - SYN3_000026 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA SEQ, STR, SSCA, RFLP - - retinal disease III-13 PubMed: Felbor 1997 Finnish family, child 6 ? - Finland - - - - - 1 LOVD
+?/. - c.708+5609C>A r.(=) p.(=) Maternal (confirmed) - likely pathogenic g.33255293G>T g.32859306G>T TIMP3 Gly166Cys - SYN3_000026 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA SEQ, STR, SSCA, RFLP - - retinal disease III-14 PubMed: Felbor 1997 Finnish family, child 7 ? - Finland - - - - - 1 LOVD
+?/. - c.708+5609C>A r.(=) p.(=) Maternal (confirmed) - likely pathogenic g.33255293G>T g.32859306G>T TIMP3 Gly166Cys - SYN3_000026 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA SEQ, STR, SSCA, RFLP - - retinal disease III-16 PubMed: Felbor 1997 Finnish family, child 8 ? - Finland - - - - - 1 LOVD
+?/. - c.708+5609C>A r.(=) p.(=) Parent #1 - likely pathogenic g.33255293G>T g.32859306G>T TIMP3 Gly166Cys - SYN3_000026 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA SEQ, STR, SSCA, RFLP - - retinal disease IV-2 PubMed: Felbor 1997 Finnish family, grandchild 2 ? - Finland - - - - - 1 LOVD
+?/. - c.708+5609C>A r.(=) p.(=) Parent #1 - likely pathogenic g.33255293G>T g.32859306G>T TIMP3 Gly166Cys - SYN3_000026 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA SEQ, STR, SSCA, RFLP - - retinal disease IV-1 PubMed: Felbor 1997 Finnish family, grandchild 1 ? - Finland - - - - - 1 LOVD
+?/. - c.708+5609C>A r.(=) p.(=) Parent #1 - likely pathogenic g.33255293G>T g.32859306G>T TIMP3 Gly166Cys - SYN3_000026 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA SEQ, STR, SSCA, RFLP - - retinal disease IV-3 PubMed: Felbor 1997 Finnish family, grandchild 3 ? - Finland - - - - - 1 LOVD
+?/. - c.708+5609C>A r.(=) p.(=) Parent #1 - likely pathogenic g.33255293G>T g.32859306G>T TIMP3 Gly166Cys - SYN3_000026 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA SEQ, STR, SSCA, RFLP - - retinal disease IV-4 PubMed: Felbor 1997 Finnish family, grandchild 4 ? - Finland - - - - - 1 LOVD
+?/. - c.708+5609C>A r.(=) p.(=) Parent #1 - likely pathogenic g.33255293G>T g.32859306G>T TIMP3 Gly166Cys - SYN3_000026 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA SEQ, STR, SSCA, RFLP - - retinal disease IV-5 PubMed: Felbor 1997 Finnish family, grandchild 5 ? - Finland - - - - - 1 LOVD
+?/. - c.708+5609C>A r.(=) p.(=) Parent #1 - likely pathogenic g.33255293G>T g.32859306G>T TIMP3 Gly166Cys - SYN3_000026 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA SEQ, STR, SSCA, RFLP - - retinal disease IV-7 PubMed: Felbor 1997 Finnish family, grandchild 6 ? - Finland - - - - - 1 LOVD
+?/. - c.708+5609C>A r.(=) p.(=) Unknown - likely pathogenic g.33255293G>T g.32859306G>T TIMP3 G166C - SYN3_000026 - PubMed: Langton 2000 - - In vitro (cloned) ? - - - - DNA ? - - retinal disease ? PubMed: Langton 2000 cell line investigation - - - - - - - - 1 LOVD
-?/. - c.708+5628G>A r.(=) p.(=) Unknown - likely benign g.33255274C>T - TIMP3(NM_000362.5):c.546C>T (p.Y182=) - SYN3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.708+5629T>C r.(=) p.(=) Paternal (inferred) - likely pathogenic g.33255273A>G g.32859286A>G TIMP3 Tyr159Cys - SYN3_000034 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous; abstract only available PubMed: Fung 2013 - - Germline yes - - - - DNA ? - - retinal disease ? PubMed: Fung 2013 abstract only available M - - - - - - choroidal neovascularization successfully treated with photodynamic therapy followed by intravitreal bevacizumab 1 LOVD
+?/. - c.708+5629T>C r.(=) p.(=) Unknown - likely pathogenic g.33255273A>G g.32859286A>G TIMP3 p.Tyr182Cys - SYN3_000034 heterozygous PubMed: Gliem 2015 - - Germline yes - - - - DNA ? - - retinal disease 4 PubMed: Gliem 2015 - - - - - - - - - 1 LOVD
+?/. - c.708+5629T>C r.(=) p.(=) Unknown - likely pathogenic g.33255273A>G g.32859286A>G TIMP3 p.Tyr182Cys - SYN3_000034 heterozygous PubMed: Gliem 2015 - - Germline yes - - - - DNA ? - - retinal disease 5 PubMed: Gliem 2015 - - - - - - - - - 1 LOVD
+?/. - c.708+5629T>C r.(=) p.(=) Unknown - likely pathogenic g.33255273A>G g.32859286A>G TIMP3 p.Tyr182Cys - SYN3_000034 heterozygous PubMed: Gliem 2015 - - Germline yes - - - - DNA ? - - retinal disease 7 PubMed: Gliem 2015 - - - - - - - - - 1 LOVD
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