Full data view for gene B9D2

Information The variants shown are described using the NM_030578.3 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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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.33A>G r.(?) p.(Ile11Met) Unknown - benign g.41869392T>C g.41363487T>C B9D2(NM_030578.3):c.33A>G (p.I11M), B9D2(NM_030578.4):c.33A>G (p.I11M) - B9D2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.33A>G r.(?) p.(Ile11Met) Unknown - benign g.41869392T>C g.41363487T>C B9D2(NM_030578.3):c.33A>G (p.I11M), B9D2(NM_030578.4):c.33A>G (p.I11M) - B9D2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.33A>G r.(?) p.(Ile11Met) Unknown - benign g.41869392T>C g.41363487T>C B9D2(NM_030578.3):c.33A>G (p.I11M), B9D2(NM_030578.4):c.33A>G (p.I11M) - B9D2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.107T>C r.(?) p.(Leu36Pro) Both (homozygous) - likely pathogenic (recessive) g.41863909A>G - - - B9D2_000008 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - DNA SEQ - 27-gene panel retinal disease UW309-3 PubMed: Bachmann-Gagescu 2015 family - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.195C>T r.(?) p.(Phe65=) Unknown - likely benign g.41863821G>A g.41357916G>A B9D2(NM_030578.3):c.195C>T (p.F65=), B9D2(NM_030578.4):c.195C>T (p.F65=) - B9D2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.195C>T r.(?) p.(Phe65=) Unknown - likely benign g.41863821G>A - B9D2(NM_030578.3):c.195C>T (p.F65=), B9D2(NM_030578.4):c.195C>T (p.F65=) - B9D2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.220C>T r.(?) p.(Pro74Ser) Paternal (confirmed) - likely pathogenic (recessive) g.41860913G>A - Pro74Ser - B9D2_000007 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - DNA SEQ - 27-gene panel retinal disease UW284-3 PubMed: Bachmann-Gagescu 2015 family - - - - - 0 - - 1 Johan den Dunnen
+/. - c.301A>C r.(?) p.(Ser101Arg) Both (homozygous) - pathogenic (recessive) g.41860832T>G - - - B9D2_000009 - PubMed: Dowdle 2011 - - Germline yes - - 0 - DNA SEQ - - JBTS family PubMed: Dowdle 2011 6-generation family, 2 affected fetuses, unaffected heterozygous carrier parents/relatives - yes Suriname India;Pakistan - 0 - - 2 Johan den Dunnen
?/. - c.373C>T r.(?) p.(Arg125Trp) Unknown - VUS g.41860760G>A - B9D2(NM_030578.3):c.373C>T (p.R125W) - B9D2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.463G>A r.(?) p.(Gly155Ser) Maternal (confirmed) - likely pathogenic (recessive) g.41860670C>T - - - B9D2_000006 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - 0 - DNA SEQ - 27-gene panel retinal disease UW284-3 PubMed: Bachmann-Gagescu 2015 family - - - - - 0 - - 1 Johan den Dunnen
?/. - c.484G>T r.(?) p.(Gly162Cys) Unknown - VUS g.41860649C>A - B9D2(NM_030578.3):c.484G>T (p.G162C) - B9D2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*18G>A r.(=) p.(=) Unknown - benign g.41860587C>T g.41354682C>T - - B9D2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*1684C>T r.(=) p.(=) Unknown - benign g.41858921G>A g.41353016G>A TGFB1(NM_000660.7):c.29C>T (p.P10L) - TGFB1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*1684C>T r.(=) p.(=) Unknown - benign g.41858921G>A g.41353016G>A TGFB1(NM_000660.7):c.29C>T (p.P10L) - TGFB1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*1729G>C r.(=) p.(=) Unknown - likely benign g.41858876C>G g.41352971C>G TGFB1(NM_000660.4):c.74G>C (p.(Arg25Pro)) - TGFB1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1861C>T r.(=) p.(=) Unknown - VUS g.41858744G>A g.41352839G>A TGFB1(NM_000660.4):c.206C>T (p.(Pro69Leu)) - TGFB1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*2003C>T r.(=) p.(=) Unknown - likely benign g.41858602G>A g.41352697G>A TGFB1(NM_000660.6):c.348C>T (p.T116=), TGFB1(NM_000660.7):c.348C>T (p.T116=) - B9D2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2003C>T r.(=) p.(=) Unknown - likely benign g.41858602G>A - TGFB1(NM_000660.6):c.348C>T (p.T116=), TGFB1(NM_000660.7):c.348C>T (p.T116=) - B9D2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2015G>A r.(=) p.(=) Unknown - likely benign g.41858590C>T - TGFB1(NM_000660.4):c.355+5G>A (p.?) - B9D2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6311G>A r.(=) p.(=) Unknown - VUS g.41854294C>T - TGFB1(NM_000660.6):c.422G>A (p.R141Q) - B9D2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*6355C>T r.(=) p.(=) Unknown - pathogenic g.41854250G>A g.41348345G>A TGFB1(NM_000660.6):c.466C>T (p.R156C) - B9D2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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