Full data view for gene ITM2B

Information The variants shown are described using the NM_021999.4 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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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.81C>T r.(?) p.(Leu27=) Unknown - likely benign g.48807577C>T g.48233441C>T ITM2B(NM_021999.4):c.81C>T (p.(=)), ITM2B(NM_021999.5):c.81C>T (p.L27=) - ITM2B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.81C>T r.(?) p.(Leu27=) Unknown - benign g.48807577C>T g.48233441C>T ITM2B(NM_021999.4):c.81C>T (p.(=)), ITM2B(NM_021999.5):c.81C>T (p.L27=) - ITM2B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.81C>T r.(?) p.(Leu27=) Unknown - likely benign g.48807577C>T - ITM2B(NM_021999.4):c.81C>T (p.(=)), ITM2B(NM_021999.5):c.81C>T (p.L27=) - ITM2B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.86del r.(?) p.(Ile29ThrfsTer33) Unknown - VUS g.48807582del g.48233446del ITM2B(NM_021999.5):c.86delT (p.I29Tfs*33) - ITM2B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.87C>A r.(?) p.(Ile29=) Unknown - benign g.48807583C>A g.48233447C>A ITM2B(NM_021999.5):c.87C>A (p.I29=) - ITM2B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.92C>A r.(?) p.(Pro31His) Unknown - likely benign g.48807588C>A - ITM2B(NM_021999.4):c.92C>A (p.(Pro31His)) - ITM2B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.92C>G r.(?) p.(Pro31Arg) Unknown - likely benign g.48807588C>G g.48233452C>G ITM2B(NM_021999.5):c.92C>G (p.P31R) - ITM2B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.92C>T r.(?) p.(Pro31Leu) Unknown - VUS g.48807588C>T g.48233452C>T ITM2B(NM_021999.5):c.92C>T (p.P31L) - ITM2B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.117+13G>A r.(=) p.(=) Unknown - likely benign g.48807626G>A g.48233490G>A ITM2B(NM_021999.5):c.117+13G>A - ITM2B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.253G>A r.(?) p.(Asp85Asn) Unknown - likely benign g.48830319G>A - ITM2B(NM_021999.4):c.253G>A (p.(Asp85Asn)) - ITM2B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.292G>A r.(?) p.(Val98Ile) Unknown - likely benign g.48830358G>A - ITM2B(NM_021999.5):c.292G>A (p.V98I) - ITM2B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.403C>T r.(?) p.(Pro135Ser) Unknown - VUS g.48830469C>T g.48256333C>T ITM2B(NM_021999.5):c.403C>T (p.P135S) - ITM2B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.572C>T r.(?) p.(Thr191Ile) Unknown - likely benign g.48832940C>T - ITM2B(NM_021999.5):c.572C>T (p.T191I) - ITM2B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.607A>G r.(?) p.(Met203Val) Unknown - VUS g.48832975A>G - ITM2B(NM_021999.4):c.607A>G (p.(Met203Val)) - ITM2B_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.659A>G r.(?) p.(Tyr220Cys) Unknown - likely benign g.48833027A>G - ITM2B(NM_021999.5):c.659A>G (p.Y220C) - ITM2B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.659A>T r.(?) p.(Tyr220Phe) Parent #1 - likely pathogenic (dominant) g.48833027A>T g.48258891A>T - - ITM2B_000011 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ-NG - WES retinal disease 690627 PubMed: Zhou 2018 - - - China - - - - - 1 LOVD
+?/. 5 c.659A>T r.(?) p.(Tyr220Phe) Unknown - likely pathogenic g.48833027A>T - c.659A>T - ITM2B_000011 - PubMed: Zhou-2011 - - Unknown - - - - - DNA SEQ blood WES retinal disease - PubMed: Zhou 2011 - - - China - - - - - 1 LOVD
-/. - c.716-4A>C r.spl? p.? Unknown - benign g.48835271A>C g.48261135A>C ITM2B(NM_021999.5):c.716-4A>C - ITM2B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.747C>T r.(?) p.(Phe249=) Unknown - likely benign g.48835306C>T - ITM2B(NM_021999.4):c.747C>T (p.(=)) - ITM2B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.782A>C r.(?) p.(Glu261Ala) Paternal (inferred) - likely pathogenic g.48835341A>C g.48261205A>C ITM2B c.782A>C, p.Glu261Ala - ITM2B_000013 heterozygous PubMed: Audo 2014 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood whole-exome sequencing retinal disease III.9 PubMed: Audo 2014 large family, individual III.9; proband's father's brother 3 M - - - - - - - 1 LOVD
+?/. 1 c.782A>C r.(?) p.(Glu261Ala) Paternal (inferred) - likely pathogenic g.48835341A>C g.48261205A>C ITM2B c.782A>C, p.Glu261Ala - ITM2B_000013 heterozygous PubMed: Audo 2014 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood whole-exome sequencing retinal disease III.11 PubMed: Audo 2014 large family, individual III.11; proband's father's sister 1 F - - - - - - - 1 LOVD
+?/. 1 c.782A>C r.(?) p.(Glu261Ala) Paternal (inferred) - likely pathogenic g.48835341A>C g.48261205A>C ITM2B c.782A>C, p.Glu261Ala - ITM2B_000013 heterozygous PubMed: Audo 2014 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood whole-exome sequencing retinal disease III.13 PubMed: Audo 2014 large family, individual III.13; proband's father's sister 2 F - - - - - - - 1 LOVD
+?/. 1 c.782A>C r.(?) p.(Glu261Ala) Paternal (inferred) - likely pathogenic g.48835341A>C g.48261205A>C ITM2B c.782A>C, p.Glu261Ala - ITM2B_000013 heterozygous PubMed: Audo 2014 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood whole-exome sequencing retinal disease III.15 PubMed: Audo 2014 large family, individual III.15; proband's father's sister 3 F - - - - - - - 1 LOVD
+?/. 1 c.782A>C r.(?) p.(Glu261Ala) Paternal (inferred) - likely pathogenic g.48835341A>C g.48261205A>C ITM2B c.782A>C, p.Glu261Ala - ITM2B_000013 heterozygous PubMed: Audo 2014 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood whole-exome sequencing retinal disease IV.11 PubMed: Audo 2014 large family, individual IV.11, proband's monozygotic twin F - - - - - - - 1 LOVD
+?/. 1 c.782A>C r.(?) p.(Glu261Ala) Paternal (inferred) - likely pathogenic g.48835341A>C g.48261205A>C ITM2B c.782A>C, p.Glu261Ala - ITM2B_000013 heterozygous PubMed: Audo 2014 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood whole-exome sequencing retinal disease IV.12 PubMed: Audo 2014 large family, individual IV.12, proband F - - - - - - - 1 LOVD
+?/. 1 c.782A>C r.(?) p.(Glu261Ala) Paternal (inferred) - likely pathogenic g.48835341A>C g.48261205A>C ITM2B c.782A>C, p.Glu261Ala - ITM2B_000013 heterozygous PubMed: Audo 2014 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood whole-exome sequencing retinal disease IV.13 PubMed: Audo 2014 large family, individual IV.13, proband's younger brother M - - - - - - - 1 LOVD
+?/. 1 c.782A>C r.(?) p.(Glu261Ala) Paternal (confirmed) - likely pathogenic g.48835341A>C g.48261205A>C ITM2B c.782A>C, p.Glu261Ala - ITM2B_000013 heterozygous PubMed: Audo 2014 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood whole-exome sequencing retinal disease IV.15 PubMed: Audo 2014 large family, individual IV.15; proband's father's brother 3's son M - - - - - - - 1 LOVD
+?/. 1 c.782A>C r.(?) p.(Glu261Ala) Maternal (confirmed) - likely pathogenic g.48835341A>C g.48261205A>C ITM2B c.782A>C, p.Glu261Ala - ITM2B_000013 heterozygous PubMed: Audo 2014 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood whole-exome sequencing retinal disease IV.22 PubMed: Audo 2014 large family, individual IV.22; proband's father's sister 2's son M - - - - - - - 1 LOVD
+?/. 1 c.782A>C r.(?) p.(Glu261Ala) Maternal (confirmed) - likely pathogenic g.48835341A>C g.48261205A>C ITM2B c.782A>C, p.Glu261Ala - ITM2B_000013 heterozygous PubMed: Audo 2014 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood whole-exome sequencing retinal disease IV.27 PubMed: Audo 2014 large family, individual IV.27; proband's father's sister 3's son 2 M - - - - - - - 1 LOVD
+?/. 1 c.782A>C r.(?) p.(Glu261Ala) Maternal (confirmed) - likely pathogenic g.48835341A>C g.48261205A>C ITM2B c.782A>C, p.Glu261Ala - ITM2B_000013 heterozygous PubMed: Audo 2014 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood whole-exome sequencing retinal disease IV.28 PubMed: Audo 2014 large family, individual IV.28; proband's father's sister 3's daughter F - - - - - - - 1 LOVD
+?/. 1 c.782A>C r.(?) p.(Glu261Ala) Paternal (inferred) - likely pathogenic g.48835341A>C g.48261205A>C ITM2B c.782A>C, p.Glu261Ala - ITM2B_000013 heterozygous PubMed: Audo 2014 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood whole-exome sequencing retinal disease III.9 PubMed: Audo 2014 large family, individual III.9; proband's father's brother 3 M - - - - - - - 1 LOVD
+?/. 1 c.782A>C r.(?) p.(Glu261Ala) Paternal (inferred) - likely pathogenic g.48835341A>C g.48261205A>C ITM2B c.782A>C, p.Glu261Ala - ITM2B_000013 heterozygous PubMed: Audo 2014 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood whole-exome sequencing retinal disease III.11 PubMed: Audo 2014 large family, individual III.11; proband's father's sister 1 F - - - - - - - 1 LOVD
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