Full data view for gene AIP

Information The variants shown are described using the NM_003977.2 transcript reference sequence.

49 entries on 1 page. Showing entries 1 - 49.
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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.26G>A r.(?) p.(Arg9Gln) Unknown - likely pathogenic g.67250655G>A g.67483184G>A AIP(NM_003977.2):c.26G>A (p.R9Q) - AIP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.36G>A r.(?) p.(Gly12=) Unknown - likely benign g.67250665G>A g.67483194G>A AIP(NM_003977.2):c.36G>A (p.G12=) - AIP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.36G>A r.(?) p.(Gly12=) Unknown - likely benign g.67250665G>A g.67483194G>A AIP(NM_003977.2):c.36G>A (p.G12=) - AIP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.47G>A r.(?) p.(Arg16His) Unknown - VUS g.67250676G>A g.67483205G>A AIP(NM_003977.2):c.47G>A (p.R16H), AIP(NM_003977.4):c.47G>A (p.R16H) - AIP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.47G>A r.(?) p.(Arg16His) Unknown - VUS g.67250676G>A g.67483205G>A AIP(NM_003977.2):c.47G>A (p.R16H), AIP(NM_003977.4):c.47G>A (p.R16H) - AIP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.47G>A r.(?) p.(Arg16His) Unknown - likely benign g.67250676G>A - AIP(NM_003977.2):c.47G>A (p.R16H), AIP(NM_003977.4):c.47G>A (p.R16H) - AIP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.47G>A r.(?) p.(Arg16His) Unknown - likely benign g.67250676G>A - AIP(NM_003977.2):c.47G>A (p.R16H), AIP(NM_003977.4):c.47G>A (p.R16H) - AIP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.68G>A r.(?) p.(Gly23Glu) Unknown - likely benign g.67250697G>A g.67483226G>A AIP(NM_003977.2):c.68G>A (p.G23E) - AIP_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.100-18C>T r.(=) p.(=) Unknown - likely benign g.67254459C>T g.67486988C>T AIP(NM_003977.2):c.100-18C>T, AIP(NM_003977.4):c.100-18C>T - AIP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.100-18C>T r.(=) p.(=) Unknown - likely benign g.67254459C>T g.67486988C>T AIP(NM_003977.2):c.100-18C>T, AIP(NM_003977.4):c.100-18C>T - AIP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.100-18C>T r.(=) p.(=) Unknown - likely benign g.67254459C>T g.67486988C>T AIP(NM_003977.2):c.100-18C>T, AIP(NM_003977.4):c.100-18C>T - AIP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.100-18C>T r.(=) p.(=) Unknown - likely benign g.67254459C>T - AIP(NM_003977.2):c.100-18C>T, AIP(NM_003977.4):c.100-18C>T - AIP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.100-18C>T r.(?) p.(?) Unknown - likely benign g.67254459C>T - - - AIP_000004 - - - rs202156895 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.132C>T r.(?) p.(Asp44=) Unknown - benign g.67254509C>T g.67487038C>T AIP(NM_003977.2):c.132C>T (p.D44=) - AIP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.132C>T r.(?) p.(Asp44=) Unknown - benign g.67254509C>T g.67487038C>T AIP(NM_003977.2):c.132C>T (p.D44=) - AIP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.132C>T r.(?) p.(Asp44=) Unknown - benign g.67254509C>T - AIP(NM_003977.2):c.132C>T (p.D44=) - AIP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.228C>T r.(?) p.(Ile76=) Unknown - likely benign g.67254605C>T g.67487134C>T AIP(NM_003977.4):c.228C>T (p.I76=) - AIP_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.429G>A r.(?) p.(Gln143=) Unknown - VUS g.67256887G>A g.67489416G>A AIP(NM_003977.2):c.429G>A (p.Q143=) - AIP_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.468+16G>A r.(=) p.(=) Unknown - likely benign g.67256942G>A - AIP(NM_003977.2):c.468+16G>A - AIP_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.474G>A r.(?) p.(Glu158=) Unknown - likely benign g.67257514G>A g.67490043G>A AIP(NM_003977.2):c.474G>A (p.E158=) - AIP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.516C>T r.(?) p.(Asp172=) Unknown - likely benign g.67257556C>T g.67490085C>T AIP(NM_003977.2):c.516C>T (p.D172=) - AIP_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.516C>T r.(?) p.(Asp172=) Unknown - benign g.67257556C>T - - - AIP_000008 - - - rs2276020 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.682C>A r.(?) p.(Gln228Lys) Unknown - benign g.67257823C>A g.67490352C>A AIP(NM_003977.2):c.682C>A (p.Q228K), AIP(NM_003977.4):c.682C>A (p.Q228K) - AIP_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.682C>A r.(?) p.(Gln228Lys) Unknown - benign g.67257823C>A g.67490352C>A AIP(NM_003977.2):c.682C>A (p.Q228K), AIP(NM_003977.4):c.682C>A (p.Q228K) - AIP_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.715C>T r.(?) p.(Gln239Ter) Unknown - pathogenic g.67257856C>T g.67490385C>T AIP(NM_003977.2):c.715C>T (p.Q239*) - AIP_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.730del r.(?) p.(Val244SerfsTer59) Unknown - pathogenic g.67257871del - AIP(NM_003977.2):c.730delG (p.V244Sfs*59) - AIP_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.736G>T r.(?) p.(Glu246Ter) Unknown - pathogenic g.67257877G>T - - - chr11_008601 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.807C>T r.(?) p.(Phe269=) Unknown - VUS g.67258278C>T g.67490807C>T AIP(NM_001302960.1):c.799C>T (p.Q267*), AIP(NM_003977.4):c.807C>T (p.F269=) - AIP_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.807C>T r.(?) p.(Phe269=) Unknown - VUS g.67258278C>T g.67490807C>T AIP(NM_001302960.1):c.799C>T (p.Q267*), AIP(NM_003977.4):c.807C>T (p.F269=) - AIP_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.807C>T r.(?) p.(Phe269=) Unknown - VUS g.67258278C>T - AIP(NM_001302960.1):c.799C>T (p.Q267*), AIP(NM_003977.4):c.807C>T (p.F269=) - AIP_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.811C>T r.(?) p.(Arg271Trp) Unknown - pathogenic g.67258282C>T g.67490811C>T AIP(NM_003977.4):c.811C>T (p.R271W) - AIP_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.825C>T r.(?) p.(His275=) Unknown - likely benign g.67258296C>T - AIP(NM_003977.4):c.825C>T (p.H275=) - AIP_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.891C>A r.(?) p.(Ala297=) Unknown - likely benign g.67258362C>A - - - AIP_000027 - - - rs35665586 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.896C>T r.(?) p.(Ala299Val) Unknown - likely benign g.67258367C>T g.67490896C>T AIP(NM_001302959.1):c.719C>T (p.(Ala240Val)), AIP(NM_003977.2):c.896C>T (p.A299V) - AIP_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.896C>T r.(?) p.(Ala299Val) Unknown - likely benign g.67258367C>T g.67490896C>T AIP(NM_001302959.1):c.719C>T (p.(Ala240Val)), AIP(NM_003977.2):c.896C>T (p.A299V) - AIP_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.896C>T r.(?) p.(Ala299Val) Unknown - likely benign g.67258367C>T g.67490896C>T AIP(NM_001302959.1):c.719C>T (p.(Ala240Val)), AIP(NM_003977.2):c.896C>T (p.A299V) - AIP_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.896C>T r.(?) p.(Ala299Val) Unknown - VUS g.67258367C>T g.67490896C>T AIP(NM_001302959.1):c.719C>T (p.(Ala240Val)), AIP(NM_003977.2):c.896C>T (p.A299V) - AIP_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.910C>T r.(?) p.(Arg304Ter) Unknown - pathogenic g.67258381C>T g.67490910C>T AIP(NM_003977.2):c.910C>T (p.R304*) - AIP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.911G>A r.(?) p.(Arg304Gln) Unknown - VUS g.67258382G>A g.67490911G>A AIP(NM_003977.2):c.911G>A (p.R304Q), AIP(NM_003977.4):c.911G>A (p.R304Q) - AIP_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.911G>A r.(?) p.(Arg304Gln) Unknown - VUS g.67258382G>A g.67490911G>A AIP(NM_003977.2):c.911G>A (p.R304Q), AIP(NM_003977.4):c.911G>A (p.R304Q) - AIP_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.911G>A r.(?) p.(Arg304Gln) Unknown - likely benign g.67258382G>A g.67490911G>A AIP(NM_003977.2):c.911G>A (p.R304Q), AIP(NM_003977.4):c.911G>A (p.R304Q) - AIP_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.920A>G r.(?) p.(Gln307Arg) Unknown - benign g.67258391A>G g.67490920A>G AIP(NM_003977.2):c.920A>G (p.Q307R), AIP(NM_003977.4):c.920A>G (p.Q307R) - AIP_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.920A>G r.(?) p.(Gln307Arg) Unknown - benign g.67258391A>G g.67490920A>G AIP(NM_003977.2):c.920A>G (p.Q307R), AIP(NM_003977.4):c.920A>G (p.Q307R) - AIP_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*60G>C r.(=) p.(=) Unknown - benign g.67258524G>C g.67491053G>C AIP(NM_003977.2):c.*60G>C - AIP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*60G>C r.(?) p.(?) Unknown - likely benign g.67258524G>C - - - AIP_000016 - - - rs146014363 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*64G>A r.(?) p.(?) Unknown - likely benign g.67258528G>A - - - AIP_000028 - - - rs115346238 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1313G>A r.(=) p.(=) Unknown - likely benign g.67259777G>A - PITPNM1(NM_004910.3):c.3472-10C>T - AIP_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2946G>C r.(=) p.(=) Unknown - likely benign g.67261410G>C - PITPNM1(NM_004910.3):c.2991C>G (p.(Pro997=)) - AIP_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4472G>A r.(=) p.(=) Unknown - VUS g.67262936G>A - PITPNM1(NM_004910.3):c.2455C>T (p.P819S) - AIP_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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