Unique variants in the B9D2 gene

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

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-/. 3 - c.33A>G r.(?) p.(Ile11Met) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+?/. 1 - c.107T>C r.(?) p.(Leu36Pro) - likely pathogenic (recessive) g.41863909A>G - - - B9D2_000008 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - Johan den Dunnen
-?/. 2 - c.195C>T r.(?) p.(Phe65=) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+?/. 1 - c.220C>T r.(?) p.(Pro74Ser) - likely pathogenic (recessive) g.41860913G>A - Pro74Ser - B9D2_000007 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.301A>C r.(?) p.(Ser101Arg) - pathogenic (recessive) g.41860832T>G - - - B9D2_000009 - PubMed: Dowdle 2011 - - Germline yes - - - - Johan den Dunnen
?/. 1 - c.373C>T r.(?) p.(Arg125Trp) - VUS g.41860760G>A - B9D2(NM_030578.3):c.373C>T (p.R125W) - B9D2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.463G>A r.(?) p.(Gly155Ser) - likely pathogenic (recessive) g.41860670C>T - - - B9D2_000006 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.484G>T r.(?) p.(Gly162Cys) - VUS g.41860649C>A - B9D2(NM_030578.3):c.484G>T (p.G162C) - B9D2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.*18G>A r.(=) p.(=) - benign g.41860587C>T g.41354682C>T - - B9D2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.*1684C>T r.(=) p.(=) - 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 - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.*1729G>C r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden
?/. 1 - c.*1861C>T r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden
-?/. 2 - c.*2003C>T r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.*2015G>A r.(=) p.(=) - likely benign g.41858590C>T - TGFB1(NM_000660.4):c.355+5G>A (p.?) - B9D2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*6311G>A r.(=) p.(=) - VUS g.41854294C>T - TGFB1(NM_000660.6):c.422G>A (p.R141Q) - B9D2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.*6355C>T r.(=) p.(=) - 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 - - - - - VKGL-NL_VUmc
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