Full data view for gene DPP3

Information The variants shown are described using the NM_130443.2 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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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     
?/. 2 c.25C>T r.(?) p.(Pro9Ser) Both (homozygous) - VUS g.66249696C>T - c.C25T - DPP3_000009 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ-NG blood autozygome-guided sequencing retinal disease - PubMed: Abu-Safieh-2013 - - - Saudi Arabia - - - - - 4 LOVD
?/. - c.435G>T r.(?) p.(Gln145His) Parent #1 - VUS g.66254085G>T g.66486614G>T - - DPP3_000001 - PubMed: Almomani 2011 {dbSNP:11550299} - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Almomani 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.948G>C r.(?) p.(Glu316Asp) Unknown - VUS g.66259187G>C - DPP3(NM_130443.4):c.948G>C (p.(Glu316Asp)) - DPP3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1603G>A r.(?) p.(Ala535Thr) Unknown - VUS g.66263126G>A - DPP3(NM_130443.3):c.1603G>A (p.A535T) - DPP3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1938A>G r.(=) p.(=) Both (homozygous) - VUS g.66272142A>G g.66504671A>G - - DPP3_000002 - PubMed: Almomani 2011 {dbSNP:1671063} - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Almomani 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1956dup r.(?) p.(Glu653Argfs*14) Unknown - VUS g.66272160dup - DPP3(NM_130443.4):c.1956dup (p.(Glu653Argfs*14)) - DPP3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2033G>A r.(?) p.(Arg678His) Parent #1 - VUS g.66272237G>A g.66504766G>A - - DPP3_000003 - PubMed: Almomani 2011 {dbSNP:2305535} - - Germline - - - - - DNA SEQ-NG, SEQ - COL6A1, COL6A2, COL6A3 MD - PubMed: Almomani 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.2042-1710_*15852del r.0? p.0? Paternal (confirmed) - pathogenic g.66274840_66292574del - del exon1_11 - DPP3_000008 17,734 bp deletion, AluY - AluY PubMed: Lindstrand 2016 - - Germline - - - - - DNA arrayCGH, PCRlr, SEQ-NG - - BBS AR888-0311 PubMed: Lindstrand 2016 - M no United States - - - - - 1 LOVD
-/. - c.2068G>A r.(?) p.(Glu690Lys) Unknown - benign g.66276576G>A g.66509105G>A DPP3(NM_130443.3):c.2068G>A (p.E690K) - DPP3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1427T>A r.(=) p.(=) Unknown - likely benign g.66278149T>A g.66510678T>A BBS1(NM_024649.5):c.19T>A (p.(Ser7Thr), p.S7T) - BBS1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1427T>A r.(=) p.(=) Unknown - VUS g.66278149T>A - BBS1(NM_024649.5):c.19T>A (p.(Ser7Thr), p.S7T) - BBS1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1432T>C r.(=) p.(=) Unknown - benign g.66278154T>C g.66510683T>C BBS1(NM_024649.5):c.24T>C (p.D8=) - BBS1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1432T>C r.(=) p.(=) Unknown - benign g.66278154T>C g.66510683T>C BBS1(NM_024649.5):c.24T>C (p.D8=) - BBS1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1753C>A r.(=) p.(=) Unknown - VUS g.66278475C>A g.66511004C>A BBS1(NM_024649.5):c.48-9C>A - BBS1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1771C>G r.(=) p.(=) Unknown - benign g.66278493C>G g.66511022C>G BBS1(NM_024649.5):c.57C>G (p.A19=) - BBS1_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5230G>A r.(=) p.(=) Unknown - VUS g.66281952G>A g.66514481G>A BBS1(NM_024649.4):c.235G>A (p.E79K), BBS1(NM_024649.5):c.235G>A (p.E79K, p.(Glu79Lys)) - BBS1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5230G>A r.(=) p.(=) Unknown - VUS g.66281952G>A g.66514481G>A BBS1(NM_024649.4):c.235G>A (p.E79K), BBS1(NM_024649.5):c.235G>A (p.E79K, p.(Glu79Lys)) - BBS1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5230G>A r.(=) p.(=) Unknown - VUS g.66281952G>A g.66514481G>A BBS1(NM_024649.4):c.235G>A (p.E79K), BBS1(NM_024649.5):c.235G>A (p.E79K, p.(Glu79Lys)) - BBS1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5230G>A r.(=) p.(=) Unknown - likely benign g.66281952G>A g.66514481G>A BBS1(NM_024649.4):c.235G>A (p.E79K), BBS1(NM_024649.5):c.235G>A (p.E79K, p.(Glu79Lys)) - BBS1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5230G>A r.(=) p.(=) Unknown - VUS g.66281952G>A - BBS1(NM_024649.4):c.235G>A (p.E79K), BBS1(NM_024649.5):c.235G>A (p.E79K, p.(Glu79Lys)) - BBS1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5238G>A r.(=) p.(=) Unknown - likely benign g.66281960G>A g.66514489G>A BBS1(NM_024649.5):c.243G>A (p.P81=) - BBS1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5238G>A r.(=) p.(=) Unknown - likely benign g.66281960G>A - BBS1(NM_024649.5):c.243G>A (p.P81=) - BBS1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*5311C>G r.(=) p.(=) Unknown - benign g.66282033C>G g.66514562C>G BBS1(NM_024649.4):c.316C>G (p.L106V), BBS1(NM_024649.5):c.316C>G (p.L106V) - BBS1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5311C>G r.(=) p.(=) Unknown - likely benign g.66282033C>G g.66514562C>G BBS1(NM_024649.4):c.316C>G (p.L106V), BBS1(NM_024649.5):c.316C>G (p.L106V) - BBS1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5355C>T r.(=) p.(=) Unknown - likely benign g.66282077C>T g.66514606C>T BBS1(NM_024649.4):c.360C>T (p.P120=) - BBS1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*5358C>A r.(=) p.(=) Unknown - pathogenic g.66282080C>A g.66514609C>A BBS1(NM_024649.5):c.363C>A (p.Y121*) - BBS1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*5358C>A r.(=) p.(=) Unknown - pathogenic g.66282080C>A g.66514609C>A BBS1(NM_024649.5):c.363C>A (p.Y121*) - BBS1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*5373G>A r.(=) p.(=) Unknown - benign g.66282095G>A g.66514624G>A BBS1(NM_024649.4):c.378G>A (p.L126=), BBS1(NM_024649.5):c.378G>A (p.L126=) - BBS1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*5373G>A r.(=) p.(=) Unknown - benign g.66282095G>A g.66514624G>A BBS1(NM_024649.4):c.378G>A (p.L126=), BBS1(NM_024649.5):c.378G>A (p.L126=) - BBS1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*5373G>A r.(=) p.(=) Unknown - benign g.66282095G>A g.66514624G>A BBS1(NM_024649.4):c.378G>A (p.L126=), BBS1(NM_024649.5):c.378G>A (p.L126=) - BBS1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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