Full data view for gene TIMP3

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000362.4 transcript reference sequence.

219 entries on 3 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     
+?/. 1 p.(Ser38Cys) r.(?) p.(Ser38Cys) Unknown - likely pathogenic g.33198100C>G g.32802114C>G TIMP3 C113G, Ser38Cys - TIMP3_000005 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous; abstract only available PubMed: Schoenberger 2013 - - Germline yes - - - - DNA ? - - retinal disease Patient 1 PubMed: Schoenberger 2013 - F - - - - - - - 1 LOVD
+?/. 1 p.(Ser38Cys) r.(?) p.(Ser38Cys) Unknown - likely pathogenic g.33198100C>G g.32802114C>G TIMP3 C113G, Ser38Cys - TIMP3_000005 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous; abstract only available PubMed: Schoenberger 2013 - - Germline yes - - - - DNA ? - - retinal disease Patient 2 PubMed: Schoenberger 2013 - F - - - - - - - 1 LOVD
?/. - c.-270G>C r.(?) p.(?) Unknown - VUS g.33197718G>C g.32801732G>C TIMP3 -270G>C - SYN3_000021 obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA SEQ, SSCA, RFLP - - retinal disease 109 PubMed: Felbor 1997 - F - - - - - - - 1 LOVD
+/. - c.29T>A r.(?) p.(Leu10His) Unknown - pathogenic g.33198016T>A g.32802030T>A - - TIMP3_000003 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 184-gene panel retinal disease RD6–05 PubMed: Wang 2017 - - - United States - - - - - 1 LOVD
-?/. - c.51G>T r.(?) p.(Gly17=) Unknown - likely benign g.33198038G>T - TIMP3(NM_000362.4):c.51G>T (p.G17=), TIMP3(NM_000362.5):c.51G>T (p.G17=) - SYN3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.51G>T r.(?) p.(Gly17=) Unknown - likely benign g.33198038G>T - TIMP3(NM_000362.4):c.51G>T (p.G17=), TIMP3(NM_000362.5):c.51G>T (p.G17=) - SYN3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.70T>C r.(?) p.(Cys24Arg) Unknown - likely pathogenic g.33198057T>C g.32802071T>C - - TIMP3_000004 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 914 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.113C>G r.(?) p.(Ser38Cys) Unknown - likely pathogenic g.33198100C>G g.32802114C>G - - TIMP3_000005 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 915 PubMed: Stone 2017 family, 2 affected F - (United States) - - - - - 2 LOVD
?/. 1 c.113C>G r.(?) p.(Ser38Cys) Parent #1 - VUS g.33198100C>G g.32802114C>G - - TIMP3_000005 - PubMed: Alapati 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease SorPat1 PubMed: Alapati 2014 - - - United States - - - - - 1 LOVD
?/. 1 c.113C>G r.(?) p.(Ser38Cys) Parent #1 - VUS g.33198100C>G g.32802114C>G - - TIMP3_000005 - PubMed: Alapati 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease SorPat2 PubMed: Alapati 2014 - - - United States - - - - - 1 LOVD
+?/. 1 c.113C>G r.(?) p.(Ser38Cys) Unknown - likely pathogenic g.33198100C>G g.32802114C>G TIMP3 C113G, Ser38Cys - TIMP3_000005 heterozygous PubMed: Warwick 2016 - - Germline yes - - - - DNA ? - - retinal disease Case 1 PubMed: Warwick 2016 - M - - - - - - - 1 LOVD
+?/. 1 c.113C>G r.(?) p.(Ser38Cys) Unknown - likely pathogenic g.33198100C>G g.32802114C>G TIMP3 C113G, Ser38Cys - TIMP3_000005 heterozygous PubMed: Warwick 2016 - - Germline yes - - - - DNA ? - - retinal disease Case 2 PubMed: Warwick 2016 - M - - - - - - - 1 LOVD
+?/. 1 c.113C>G r.(?) p.(Ser38Cys) Unknown - likely pathogenic g.33198100C>G g.32802114C>G TIMP3 C113G, Ser38Cys - TIMP3_000005 heterozygous PubMed: Warwick 2016 - - Germline yes - - - - DNA ? - - retinal disease Case 3 PubMed: Warwick 2016 - F - - - - - - - 1 LOVD
+?/. 1 c.113C>G r.(?) p.(Ser38Cys) Unknown - likely pathogenic g.33198100C>G g.32802114C>G TIMP3 C113G, Ser38Cys - TIMP3_000005 heterozygous PubMed: Koutresi 2019 - - Germline yes - - - - DNA ? - retrospective study retinal disease Case 1 PubMed: Koutresi 2019 proband F - - - - - - - 1 LOVD
+?/. 1 c.113C>G r.(?) p.(Ser38Cys) Unknown - likely pathogenic g.33198100C>G g.32802114C>G TIMP3 C113G, Ser38Cys - TIMP3_000005 heterozygous PubMed: Koutresi 2019 - - Germline yes - - - - DNA ? - retrospective study retinal disease Case 2 PubMed: Koutresi 2019 proband's sister F - - - - - - - 1 LOVD
+?/. 1 c.113C>G r.(?) p.(Ser38Cys) Unknown - likely pathogenic g.33198100C>G g.32802114C>G TIMP3 C113G, Ser38Cys - TIMP3_000005 heterozygous PubMed: Koutresi 2019 - - Germline yes - - - - DNA ? - retrospective study retinal disease Case 3 PubMed: Koutresi 2019 proband's son M - - - - - - - 1 LOVD
+?/. 1 c.113C>G r.(?) p.(Ser38Cys) Unknown - likely pathogenic g.33198100C>G g.32802114C>G TIMP3 c.113C>G (p.S38C) - TIMP3_000005 heterozygous PubMed: Meunier 2016 - - Germline yes - - - - DNA SEQ blood - retinal disease 2_III:2 PubMed: Meunier 2016 Family 2, individual III:2 M - - - - - - - 1 LOVD
+?/. 1 c.113C>G r.(?) p.(Ser38Cys) Unknown - likely pathogenic g.33198100C>G g.32802114C>G TIMP3 c.113C>G (p.S38C) - TIMP3_000005 heterozygous PubMed: Meunier 2016 - - Germline yes - - - - DNA SEQ blood - retinal disease 2_III:3 PubMed: Meunier 2016 Family 2, individual III:3 M - - - - - - - 1 LOVD
+?/. 1 c.113C>G r.(?) p.(Ser38Cys) Unknown - likely pathogenic g.33198100C>G g.32802114C>G TIMP3 c.113C>G (p.S38C) - TIMP3_000005 heterozygous PubMed: Meunier 2016 - - Germline yes - - - - DNA SEQ blood - retinal disease 2_III:6 PubMed: Meunier 2016 Family 2, individual III:6 F - - - - - - - 1 LOVD
+?/. 1 c.113C>G r.(?) p.(Ser38Cys) Paternal (inferred) - likely pathogenic g.33198100C>G g.32802114C>G TIMP3 c.113C>G (p.S38C) - TIMP3_000005 heterozygous; haplotype analysis revealed a a founder mutation PubMed: Naessens 2019 - - Germline yes - - - - DNA SEQ - - retinal disease 1_III:23 PubMed: Naessens 2019 Family 1 M - - - - - - - 1 LOVD
+?/. 1 c.113C>G r.(?) p.(Ser38Cys) Paternal (inferred) - likely pathogenic g.33198100C>G g.32802114C>G TIMP3 c.113C>G (p.S38C) - TIMP3_000005 heterozygous; haplotype analysis revealed a a founder mutation PubMed: Naessens 2019 - - Germline yes - - - - DNA SEQ - - retinal disease 1_III:25 PubMed: Naessens 2019 Family 1 M - - - - - - - 1 LOVD
+?/. 1 c.113C>G r.(?) p.(Ser38Cys) Paternal (inferred) - likely pathogenic g.33198100C>G g.32802114C>G TIMP3 c.113C>G (p.S38C) - TIMP3_000005 heterozygous; haplotype analysis revealed a a founder mutation PubMed: Naessens 2019 - - Germline yes - - - - DNA SEQ - - retinal disease 1_IV:3 PubMed: Naessens 2019 Family 1 F - - - - - - - 1 LOVD
+?/. 1 c.113C>G r.(?) p.(Ser38Cys) Maternal (inferred) - likely pathogenic g.33198100C>G g.32802114C>G TIMP3 c.113C>G (p.S38C) - TIMP3_000005 heterozygous; haplotype analysis revealed a a founder mutation PubMed: Naessens 2019 - - Germline yes - - - - DNA SEQ - - retinal disease 1_IV:10 PubMed: Naessens 2019 Family 1 F - - - - - - - 1 LOVD
+?/. 1 c.113C>G r.(?) p.(Ser38Cys) Paternal (inferred) - likely pathogenic g.33198100C>G g.32802114C>G TIMP3 c.113C>G (p.S38C) - TIMP3_000005 heterozygous; haplotype analysis revealed a a founder mutation PubMed: Naessens 2019 - - Germline yes - - - - DNA SEQ - - retinal disease 1_IV:12 PubMed: Naessens 2019 Family 1 F - - - - - - - 1 LOVD
+?/. 1 c.113C>G r.(?) p.(Ser38Cys) Paternal (inferred) - likely pathogenic g.33198100C>G g.32802114C>G TIMP3 c.113C>G (p.S38C) - TIMP3_000005 heterozygous; haplotype analysis revealed a a founder mutation PubMed: Naessens 2019 - - Germline yes - - - - DNA SEQ - - retinal disease 1_IV:13 PubMed: Naessens 2019 Family 1 F - - - - - - - 1 LOVD
+?/. 1 c.113C>G r.(?) p.(Ser38Cys) Maternal (inferred) - likely pathogenic g.33198100C>G g.32802114C>G TIMP3 c.113C>G (p.S38C) - TIMP3_000005 heterozygous; haplotype analysis revealed a a founder mutation PubMed: Naessens 2019 - - Germline yes - - - - DNA SEQ - - retinal disease 1_IV:29 PubMed: Naessens 2019 Family 1 M - - - - - - - 1 LOVD
+?/. 1 c.113C>G r.(?) p.(Ser38Cys) Maternal (inferred) - likely pathogenic g.33198100C>G g.32802114C>G TIMP3 c.113C>G (p.S38C) - TIMP3_000005 heterozygous; haplotype analysis revealed a a founder mutation PubMed: Naessens 2019 - - Germline yes - - - - DNA SEQ - - retinal disease 1_IV:31 PubMed: Naessens 2019 Family 1 F - - - - - - - 1 LOVD
+?/. 1 c.113C>G r.(?) p.(Ser38Cys) Maternal (inferred) - likely pathogenic g.33198100C>G g.32802114C>G TIMP3 c.113C>G (p.S38C) - TIMP3_000005 heterozygous; haplotype analysis revealed a a founder mutation PubMed: Naessens 2019 - - Germline yes - - - - DNA SEQ - - retinal disease 1_IV:53 PubMed: Naessens 2019 Family 1 M - - - - - - - 1 LOVD
+?/. 1 c.113C>G r.(?) p.(Ser38Cys) Maternal (inferred) - likely pathogenic g.33198100C>G g.32802114C>G TIMP3 c.113C>G (p.S38C) - TIMP3_000005 heterozygous; haplotype analysis revealed a a founder mutation PubMed: Naessens 2019 - - Germline yes - - - - DNA SEQ - - retinal disease 1_IV:55 PubMed: Naessens 2019 Family 1 M - - - - - - - 1 LOVD
+?/. 1 c.113C>G r.(?) p.(Ser38Cys) Maternal (inferred) - likely pathogenic g.33198100C>G g.32802114C>G TIMP3 c.113C>G (p.S38C) - TIMP3_000005 heterozygous; haplotype analysis revealed a a founder mutation PubMed: Naessens 2019 - - Germline yes - - - - DNA SEQ - - retinal disease 1_IV:56 PubMed: Naessens 2019 Family 1 F - - - - - - - 1 LOVD
+?/. 1 c.113C>G r.(?) p.(Ser38Cys) Maternal (inferred) - likely pathogenic g.33198100C>G g.32802114C>G TIMP3 c.113C>G (p.S38C) - TIMP3_000005 heterozygous; haplotype analysis revealed a a founder mutation PubMed: Naessens 2019 - - Germline yes - - - - DNA SEQ - - retinal disease 1_IV:57 PubMed: Naessens 2019 Family 1 M - - - - - - - 1 LOVD
+?/. 1 c.113C>G r.(?) p.(Ser38Cys) Paternal (confirmed) - likely pathogenic g.33198100C>G g.32802114C>G TIMP3 c.113C>G (p.S38C) - TIMP3_000005 heterozygous; haplotype analysis revealed a a founder mutation PubMed: Naessens 2019 - - Germline yes - - - - DNA SEQ - - retinal disease 1_IV:62 PubMed: Naessens 2019 Family 1 M - - - - - - - 1 LOVD
+?/. 1 c.113C>G r.(?) p.(Ser38Cys) Paternal (confirmed) - likely pathogenic g.33198100C>G g.32802114C>G TIMP3 c.113C>G (p.S38C) - TIMP3_000005 heterozygous; haplotype analysis revealed a a founder mutation PubMed: Naessens 2019 - - Germline yes - - - - DNA SEQ - - retinal disease 1_V:27 PubMed: Naessens 2019 Family 1 M - - - - - - - 1 LOVD
+?/. 1 c.113C>G r.(?) p.(Ser38Cys) Maternal (confirmed) - likely pathogenic g.33198100C>G g.32802114C>G TIMP3 c.113C>G (p.S38C) - TIMP3_000005 heterozygous; haplotype analysis revealed a a founder mutation PubMed: Naessens 2019 - - Germline yes - - - - DNA SEQ - - retinal disease 1_V:29 PubMed: Naessens 2019 Family 1 M - - - - - - - 1 LOVD
+?/. 1 c.113C>G r.(?) p.(Ser38Cys) Maternal (confirmed) - likely pathogenic g.33198100C>G g.32802114C>G TIMP3 c.113C>G (p.S38C) - TIMP3_000005 heterozygous; haplotype analysis revealed a a founder mutation PubMed: Naessens 2019 - - Germline yes - - - - DNA SEQ - - retinal disease 1_V:30 PubMed: Naessens 2019 Family 1 M - - - - - - - 1 LOVD
+?/. 1 c.113C>G r.(?) p.(Ser38Cys) Unknown - likely pathogenic g.33198100C>G g.32802114C>G TIMP3 c.113C>G (p.S38C) - TIMP3_000005 heterozygous; haplotype analysis revealed a a founder mutation PubMed: Naessens 2019 - - Germline yes - - - - DNA SEQ - - retinal disease 2_I:1 PubMed: Naessens 2019 Family 2 F - - - - - - - 1 LOVD
+?/. 1 c.113C>G r.(?) p.(Ser38Cys) Maternal (confirmed) - likely pathogenic g.33198100C>G g.32802114C>G TIMP3 c.113C>G (p.S38C) - TIMP3_000005 heterozygous; haplotype analysis revealed a a founder mutation PubMed: Naessens 2019 - - Germline yes - - - - DNA SEQ - - retinal disease 2_II:1 PubMed: Naessens 2019 Family 2 F - - - - - - - 1 LOVD
+?/. 1 c.113C>G r.(?) p.(Ser38Cys) Maternal (confirmed) - likely pathogenic g.33198100C>G g.32802114C>G TIMP3 c.113C>G (p.S38C) - TIMP3_000005 heterozygous; haplotype analysis revealed a a founder mutation PubMed: Naessens 2019 - - Germline yes - - - - DNA SEQ - - retinal disease 2_II:2 PubMed: Naessens 2019 Family 2 M - - - - - - - 1 LOVD
+?/. 1 c.113C>G r.(?) p.(Ser38Cys) Unknown - likely pathogenic g.33198100C>G g.32802114C>G TIMP3 c.113C>G (p.S38C) - TIMP3_000005 heterozygous; haplotype analysis revealed a a founder mutation PubMed: Naessens 2019 - - Germline yes - - - - DNA SEQ - - retinal disease 3_II:1 PubMed: Naessens 2019 Family 3 M - - - - - - - 1 LOVD
+?/. 1 c.113C>G r.(?) p.(Ser38Cys) Unknown - likely pathogenic g.33198100C>G - c.113C>G - TIMP3_000005 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing retinal disease - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
-?/. - c.177G>A r.(?) p.(Thr59=) Unknown - likely benign g.33245494G>A g.32849507G>A SYN3(NM_001135774.2):c.708+15408C>T, TIMP3(NM_000362.5):c.177G>A (p.T59=) - SYN3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.249T>C r.(?) p.(His83=) Unknown - benign g.33253280T>C g.32857293T>C SYN3(NM_001135774.2):c.708+7622A>G, TIMP3(NM_000362.5):c.249T>C (p.H83=) - SYN3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.249T>C r.(?) p.(His83=) Unknown - likely benign g.33253280T>C g.32857293T>C TIMP3 HIS60 silent - SYN3_000006 allele 1, present in 143 AMD, 27 AVMD, 19 CACD patients; obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA SEQ, SSCA, RFLP - - retinal disease 109 PubMed: Felbor 1997 multiple patients ? - - - - - - - 1 LOVD
-/. - c.249T>C r.(?) p.(His83=) Unknown - benign g.33253280T>C - SYN3(NM_001135774.2):c.708+7622A>G, TIMP3(NM_000362.5):c.249T>C (p.H83=) - SYN3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.261C>T r.(?) p.(Ser87=) Unknown - likely benign g.33253292C>T g.32857305C>T TIMP3 SER64 silent - SYN3_000022 allele 3, present in 17 AMD, 5 AVMD, 7 CACD patients; obsolete protein annotation, extrapolated from databases; heterozygous PubMed: Felbor 1997 - - Germline yes - - - - DNA SEQ, SSCA, RFLP - - retinal disease 109 PubMed: Felbor 1997 multiple patients ? - - - - - - - 1 LOVD
-/. - c.261C>T r.(?) p.(=) Unknown - benign g.33253292C>T - - - SYN3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.289G>A r.(?) p.(Val97Ile) Unknown - likely benign g.33253320G>A - TIMP3(NM_000362.4):c.289G>A (p.V97I) - SYN3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.311T>C r.(?) p.(Leu104Pro) Unknown - likely pathogenic g.33253342T>C g.32857355T>C - - TIMP3_000002 - PubMed: Wang 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES ? AVM028 PubMed: Wang 2018 - - - China - - - - - 1 Johan den Dunnen
-/. - c.316+12C>T r.(=) p.(=) Unknown - benign g.33253359C>T g.32857372C>T TIMP3(NM_000362.5):c.316+12C>T - SYN3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.317-4G>A r.spl? p.? Unknown - likely benign g.33254000G>A g.32858013G>A TIMP3(NM_000362.5):c.317-4G>A - SYN3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.319C>T r.(?) p.(Arg107Cys) Unknown - VUS g.33254006C>T g.32858019C>T TIMP3(NM_000362.4):c.319C>T (p.R107C) - SYN3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.322G>A r.(?) p.(Val108Ile) Unknown - VUS g.33254009G>A - - - SYN3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.356A>C r.(?) p.(Asn119Thr) Unknown - VUS g.33254043A>C - - - SYN3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.360C>T r.(?) p.(Phe120=) Unknown - benign g.33254047C>T - TIMP3(NM_000362.5):c.360C>T (p.F120=) - SYN3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.410A>G r.(?) p.(Tyr137Cys) Maternal (inferred) - likely pathogenic g.33254097A>G g.32858110A>G TIMP3 c.410A>G; p.Tyr137Cys - SYN3_000029 heterozygous PubMed: DeBenedictis 2020 - - Germline yes - - - - DNA SEQ blood - retinal disease Case 1 PubMed: DeBenedictis 2020 proband - - - Dutch, Northern Irish, English - - - - 1 LOVD
+?/. - c.410A>G r.(?) p.(Tyr137Cys) Paternal (confirmed) - likely pathogenic g.33254097A>G g.32858110A>G TIMP3 c.410A>G; p.Tyr137Cys - SYN3_000029 heterozygous PubMed: DeBenedictis 2020 - - Germline yes - - - - DNA SEQ blood - retinal disease Case 2 PubMed: DeBenedictis 2020 proband's son - - - - - - - - 1 LOVD
+?/. - c.428G>A r.(?) p.(Cys143Tyr) Unknown ACMG likely pathogenic g.33254115G>A g.32858128G>A TIMP3 c.[428G>A];[428=], V1: c.428G>A, (p.Cys143Tyr) - SYN3_000020 heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F203 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. - c.428G>A r.(?) p.(Cys143Tyr) Parent #1 - likely pathogenic g.33254115G>A g.32858128G>A TIMP3 c.[428G>A];[428=]; p.(Cys143Tyr) - SYN3_000020 heterozygous PubMed: Chen 2021 - - Germline yes Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F203 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+?/. - c.439-2dup r.spl p.(?) Unknown - likely pathogenic g.33255165dup g.32859178dup TIMP3 3' splice site mutation at the intron 4/exon 5 junction, single base insertion at -1 or -2 of exon 5 which results in alteration of the consensus sequence CAG to CAAG - SYN3_000023 {PMID:Tabata 1998:9760202} PubMed: Tabata 1998 - - Germline yes - - - - DNA SEQ, SSCA blood - retinal disease Ch_I:1 PubMed: Tabata 1998 family Ch, proband's mother (error in pedigree, marked as male) F - Japan - - - - - 1 LOVD
+?/. - c.439-2dup r.spl p.(?) Maternal (confirmed) - likely pathogenic g.33255165dup g.32859178dup TIMP3 3' splice site mutation at the intron 4/exon 5 junction, single base insertion at -1 or -2 of exon 5 which results in alteration of the consensus sequence CAG to CAAG - SYN3_000023 {PMID:Tabata 1998:9760202} PubMed: Tabata 1998 - - Germline yes - - - - DNA SEQ, SSCA blood - retinal disease Ch_II:1 PubMed: Tabata 1998 family Ch, proband M - Japan - - - - - 1 LOVD
+?/. - c.439-2dup r.spl p.(?) Paternal (confirmed) - likely pathogenic g.33255165dup g.32859178dup TIMP3 3' splice site mutation at the intron 4/exon 5 junction, single base insertion at -1 or -2 of exon 5 which results in alteration of the consensus sequence CAG to CAAG - SYN3_000023 {PMID:Tabata 1998:9760202} PubMed: Tabata 1998 - - Germline yes - - - - DNA SEQ, SSCA blood - retinal disease Ch_III:1 PubMed: Tabata 1998 family Ch, proband's son (not in the article pedigree) M - Japan - - - - - 1 LOVD
+?/. - c.439-2dup r.spl p.(?) Parent #1 - likely pathogenic g.33255165dup g.32859178dup TIMP3 3' splice site mutation at the intron 4/exon 5 junction, single base insertion at -1 or -2 of exon 5 which results in alteration of the consensus sequence CAG to CAAG - SYN3_000023 {PMID:Tabata 1998:9760202} PubMed: Tabata 1998 - - Germline yes - - - - DNA SEQ, SSCA blood - retinal disease Ue_I:1 PubMed: Tabata 1998 family Ue, proband M - Japan - - - - - 1 LOVD
+?/. - c.439-2dup r.spl p.(?) Parent #1 - likely pathogenic g.33255165dup g.32859178dup TIMP3 3' splice site mutation at the intron 4/exon 5 junction, single base insertion at -1 or -2 of exon 5 which results in alteration of the consensus sequence CAG to CAAG - SYN3_000023 {PMID:Tabata 1998:9760202} PubMed: Tabata 1998 - - Germline yes - - - - DNA SEQ, SSCA blood - retinal disease Ue_I:2 PubMed: Tabata 1998 family Ue, proband's brother 1 M - Japan - - - - - 1 LOVD
+?/. - c.439-2dup r.spl p.(?) Parent #1 - likely pathogenic g.33255165dup g.32859178dup TIMP3 3' splice site mutation at the intron 4/exon 5 junction, single base insertion at -1 or -2 of exon 5 which results in alteration of the consensus sequence CAG to CAAG - SYN3_000023 {PMID:Tabata 1998:9760202} PubMed: Tabata 1998 - - Germline yes - - - - DNA SEQ, SSCA blood - retinal disease Ue_I:3 PubMed: Tabata 1998 family Ue, proband's brother 2 M - Japan - - - - - 1 LOVD
?/. - c.476C>T r.(?) p.(Ser159Phe) Unknown - VUS g.33255204C>T g.32859217C>T c.476C>T, S159F - SYN3_000019 gene might be involved in keratoconus pathogenesis PubMed: Xu 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ blood targeted NGS: gene panel of several extracellular-matrix (ECM)-related genes KTCN 3 PubMed: Xu 2020 no patient numbering M - China Chinese Han - - - - 1 LOVD
+?/. - c.484G>A r.(?) p.(Glu162Lys) Paternal (inferred) - likely pathogenic g.33255212G>A g.32859225G>A TIMP3 c.415 G>A, (p.E139K) - SYN3_000030 obsolete nucleotide and protein annotation, extrapolated from databases; heterozygous PubMed: Saihan 2009 - - Germline yes - - - - DNA SEQ blood - retinal disease III:1 PubMed: Saihan 2009 proband's sister 1 F - - - - - - - 1 LOVD
+?/. - c.484G>A r.(?) p.(Glu162Lys) Paternal (inferred) - likely pathogenic g.33255212G>A g.32859225G>A TIMP3 c.415 G>A, (p.E139K) - SYN3_000030 obsolete nucleotide and protein annotation, extrapolated from databases; heterozygous PubMed: Saihan 2009 - - Germline yes - - - - DNA SEQ blood - retinal disease III:3 PubMed: Saihan 2009 proband's sister 2 F - - - - - - - 1 LOVD
+?/. - c.484G>A r.(?) p.(Glu162Lys) Paternal (inferred) - likely pathogenic g.33255212G>A g.32859225G>A TIMP3 c.415 G>A, (p.E139K) - SYN3_000030 obsolete nucleotide and protein annotation, extrapolated from databases; heterozygous PubMed: Saihan 2009 - - Germline yes - - - - DNA SEQ blood - retinal disease III:4 PubMed: Saihan 2009 proband M - - - - - - - 1 LOVD
+?/. - c.484G>A r.(?) p.(Glu162Lys) Unknown - likely pathogenic g.33255212G>A g.32859225G>A TIMP3 p.Glu162Lys - SYN3_000030 heterozygous PubMed: Gliem 2015 - - Germline yes - - - - DNA ? - - retinal disease 8 PubMed: Gliem 2015 - - - - - - - - - 1 LOVD
+?/. - c.484G>T r.(?) p.(Glu162*) Unknown - likely pathogenic g.33255212G>T g.32859225G>T TIMP3 E139X - SYN3_000024 - PubMed: Langton 2000 - - In vitro (cloned) ? - - - - DNA ? - - retinal disease ? PubMed: Langton 2000 cell line investigation - - - - - - - - 1 LOVD
+?/. - c.484G>T r.(?) p.(Glu162*) Unknown - likely pathogenic g.33255212G>T g.32859225G>T TIMP3 E139X - SYN3_000024 heterozygous PubMed: Clarke 2001 - - Germline yes - - - - DNA SEQ blood - retinal disease III:2 PubMed: Clarke 2001 - ? - - - - - - - 1 LOVD
+?/. - c.484G>T r.(?) p.(Glu162*) Unknown - likely pathogenic g.33255212G>T g.32859225G>T TIMP3 E139X - SYN3_000024 heterozygous PubMed: Clarke 2001 - - Germline yes - - - - DNA SEQ blood - retinal disease IV:4 PubMed: Clarke 2001 - ? - - - - - - - 1 LOVD
+?/. - c.484G>T r.(?) p.(Glu162*) Unknown - likely pathogenic g.33255212G>T g.32859225G>T TIMP3 E139X - SYN3_000024 heterozygous PubMed: Clarke 2001 - - Germline yes - - - - DNA SEQ blood - retinal disease IV:10 PubMed: Clarke 2001 - F - - - - - - - 1 LOVD
+?/. - c.489T>A r.(?) p.(Cys163Ter) Unknown - likely pathogenic g.33255217T>A g.32859230T>A - - SYN3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.499G>A r.(?) p.(Asp167Asn) Unknown - likely pathogenic g.33255227G>A g.32859240G>A - - TIMP3_000006 - PubMed: Riera 2017 - - Germline yes - - - - DNA SEQ-NG - 212-gene panel retinal disease Fi15/03 PubMed: Riera 2017 family, several affected - - Spain - - - - - 2 LOVD
?/. 5 c.499G>A r.(?) p.(Asp167Asn) Parent #1 ACMG VUS g.33255227G>A g.32859240G>A - - TIMP3_000006 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 066706 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
-?/. - c.516C>T r.(?) p.(Phe172=) Unknown - likely benign g.33255244C>T g.32859257C>T TIMP3(NM_000362.4):c.516C>T (p.F172=), TIMP3(NM_000362.5):c.516C>T (p.F172=) - SYN3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.516C>T r.(?) p.(Phe172=) Unknown - likely benign g.33255244C>T - TIMP3(NM_000362.4):c.516C>T (p.F172=), TIMP3(NM_000362.5):c.516C>T (p.F172=) - SYN3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.516C>T r.(?) p.(Phe172=) Unknown - likely benign g.33255244C>T - TIMP3(NM_000362.4):c.516C>T (p.F172=), TIMP3(NM_000362.5):c.516C>T (p.F172=) - SYN3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.521A>G r.(?) p.(Tyr174Cys) Unknown - likely pathogenic g.33255249A>G g.32859262A>G TIMP3 p.Tyr174Cys - SYN3_000031 heterozygous PubMed: Gliem 2015 - - Germline yes - - - - DNA ? - - retinal disease 10 PubMed: Gliem 2015 - - - - - - - - - 1 LOVD
+?/. - c.521A>G r.(?) p.(Tyr174Cys) Unknown - likely pathogenic g.33255249A>G g.32859262A>G TIMP3 p.Tyr174Cys - SYN3_000031 heterozygous PubMed: Gliem 2015 - - Germline yes - - - - DNA ? - - retinal disease 12 PubMed: Gliem 2015 - - - - - - - - - 1 LOVD
+?/. - c.530A>G r.(?) p.(Tyr177Cys) Unknown - likely pathogenic g.33255258A>G g.32859271A>G TIMP3 p.Tyr177Cys - SYN3_000032 heterozygous PubMed: Gliem 2015 - - Germline yes - - - - DNA ? - - retinal disease 1 PubMed: Gliem 2015 - - - - - - - - - 1 LOVD
+?/. - c.530A>G r.(?) p.(Tyr177Cys) Unknown - likely pathogenic g.33255258A>G g.32859271A>G TIMP3 p.Tyr177Cys - SYN3_000032 heterozygous PubMed: Gliem 2015 - - Germline yes - - - - DNA ? - - retinal disease 2 PubMed: Gliem 2015 - - - - - - - - - 1 LOVD
+?/. - c.530A>G r.(?) p.(Tyr177Cys) Unknown - likely pathogenic g.33255258A>G g.32859271A>G TIMP3 p.Tyr177Cys - SYN3_000032 heterozygous PubMed: Gliem 2015 - - Germline yes - - - - DNA ? - - retinal disease 3 PubMed: Gliem 2015 - - - - - - - - - 1 LOVD
+?/. - c.530A>G r.(?) p.(Tyr177Cys) Unknown - likely pathogenic g.33255258A>G g.32859271A>G TIMP3 p.Tyr177Cys - SYN3_000032 heterozygous PubMed: Gliem 2015 - - Germline yes - - - - DNA ? - - retinal disease 6 PubMed: Gliem 2015 - - - - - - - - - 1 LOVD
+?/. - c.530A>G r.(?) p.(Tyr177Cys) Unknown - likely pathogenic g.33255258A>G g.32859271A>G TIMP3 p.Tyr177Cys - SYN3_000032 heterozygous PubMed: Gliem 2015 - - Germline yes - - - - DNA ? - - retinal disease 9 PubMed: Gliem 2015 - - - - - - - - - 1 LOVD
+?/. - c.530A>G r.(?) p.(Tyr177Cys) Unknown - likely pathogenic g.33255258A>G g.32859271A>G TIMP3 p.Tyr177Cys - SYN3_000032 heterozygous PubMed: Gliem 2015 - - Germline yes - - - - DNA ? - - retinal disease 11 PubMed: Gliem 2015 - - - - - - - - - 1 LOVD
+?/. - c.530A>G r.(?) p.(Tyr177Cys) Unknown - likely pathogenic g.33255258A>G g.32859271A>G TIMP3 p.Tyr177Cys - SYN3_000032 heterozygous PubMed: Gliem 2015 - - Germline yes - - - - DNA ? - - retinal disease 14 PubMed: Gliem 2015 - - - - - - - - - 1 LOVD
+?/. - c.536C>G r.(?) p.(Ser179Cys) Unknown - likely pathogenic g.33255264C>G g.32859277C>G TIMP3 Ser156Cys - SYN3_000025 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous; article not fully available PubMed: Felbor 1995 - - Germline yes - - - - DNA SEQ, STR - - retinal disease ? PubMed: Felbor 1995 article not fully available: 12 affecteds from 1 family ? - - - - - - - 1 LOVD
+?/. - c.536C>G r.(?) p.(Ser179Cys) Unknown - likely pathogenic g.33255264C>G g.32859277C>G TIMP3 Ser156Cys - SYN3_000025 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous; article not fully available PubMed: Felbor 1995 - - Germline yes - - - - DNA SEQ, STR - - retinal disease ? PubMed: Felbor 1995 article not fully available: 12 affecteds from 1 family ? - - - - - - - 1 LOVD
+?/. - c.536C>G r.(?) p.(Ser179Cys) Unknown - likely pathogenic g.33255264C>G g.32859277C>G TIMP3 Ser156Cys - SYN3_000025 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous; article not fully available PubMed: Felbor 1995 - - Germline yes - - - - DNA SEQ, STR - - retinal disease ? PubMed: Felbor 1995 article not fully available: 12 affecteds from 1 family ? - - - - - - - 1 LOVD
+?/. - c.536C>G r.(?) p.(Ser179Cys) Unknown - likely pathogenic g.33255264C>G g.32859277C>G TIMP3 Ser156Cys - SYN3_000025 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous; article not fully available PubMed: Felbor 1995 - - Germline yes - - - - DNA SEQ, STR - - retinal disease ? PubMed: Felbor 1995 article not fully available: 12 affecteds from 1 family ? - - - - - - - 1 LOVD
+?/. - c.536C>G r.(?) p.(Ser179Cys) Unknown - likely pathogenic g.33255264C>G g.32859277C>G TIMP3 Ser156Cys - SYN3_000025 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous; article not fully available PubMed: Felbor 1995 - - Germline yes - - - - DNA SEQ, STR - - retinal disease ? PubMed: Felbor 1995 article not fully available: 12 affecteds from 1 family ? - - - - - - - 1 LOVD
+?/. - c.536C>G r.(?) p.(Ser179Cys) Unknown - likely pathogenic g.33255264C>G g.32859277C>G TIMP3 Ser156Cys - SYN3_000025 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous; article not fully available PubMed: Felbor 1995 - - Germline yes - - - - DNA SEQ, STR - - retinal disease ? PubMed: Felbor 1995 article not fully available: 12 affecteds from 1 family ? - - - - - - - 1 LOVD
+?/. - c.536C>G r.(?) p.(Ser179Cys) Unknown - likely pathogenic g.33255264C>G g.32859277C>G TIMP3 Ser156Cys - SYN3_000025 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous; article not fully available PubMed: Felbor 1995 - - Germline yes - - - - DNA SEQ, STR - - retinal disease ? PubMed: Felbor 1995 article not fully available: 12 affecteds from 1 family ? - - - - - - - 1 LOVD
+?/. - c.536C>G r.(?) p.(Ser179Cys) Unknown - likely pathogenic g.33255264C>G g.32859277C>G TIMP3 Ser156Cys - SYN3_000025 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous; article not fully available PubMed: Felbor 1995 - - Germline yes - - - - DNA SEQ, STR - - retinal disease ? PubMed: Felbor 1995 article not fully available: 12 affecteds from 1 family ? - - - - - - - 1 LOVD
+?/. - c.536C>G r.(?) p.(Ser179Cys) Unknown - likely pathogenic g.33255264C>G g.32859277C>G TIMP3 Ser156Cys - SYN3_000025 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous; article not fully available PubMed: Felbor 1995 - - Germline yes - - - - DNA SEQ, STR - - retinal disease ? PubMed: Felbor 1995 article not fully available: 12 affecteds from 1 family ? - - - - - - - 1 LOVD
+?/. - c.536C>G r.(?) p.(Ser179Cys) Unknown - likely pathogenic g.33255264C>G g.32859277C>G TIMP3 Ser156Cys - SYN3_000025 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous; article not fully available PubMed: Felbor 1995 - - Germline yes - - - - DNA SEQ, STR - - retinal disease ? PubMed: Felbor 1995 article not fully available: 12 affecteds from 1 family ? - - - - - - - 1 LOVD
+?/. - c.536C>G r.(?) p.(Ser179Cys) Unknown - likely pathogenic g.33255264C>G g.32859277C>G TIMP3 Ser156Cys - SYN3_000025 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous; article not fully available PubMed: Felbor 1995 - - Germline yes - - - - DNA SEQ, STR - - retinal disease ? PubMed: Felbor 1995 article not fully available: 12 affecteds from 1 family ? - - - - - - - 1 LOVD
+?/. - c.536C>G r.(?) p.(Ser179Cys) Unknown - likely pathogenic g.33255264C>G g.32859277C>G TIMP3 Ser156Cys - SYN3_000025 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous; article not fully available PubMed: Felbor 1995 - - Germline yes - - - - DNA SEQ, STR - - retinal disease ? PubMed: Felbor 1995 article not fully available: 12 affecteds from 1 family ? - - - - - - - 1 LOVD
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