Full data view for gene SBDS

Information The variants shown are described using the NM_016038.2 transcript reference sequence.

116 entries on 2 pages. Showing entries 1 - 100.
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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.-3522C>T r.(?) p.(=) Unknown - likely benign g.66463926G>A - TYW1(NM_018264.2):c.258G>A (p.(Gln86=)) - SBDS_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.? r.(?) p.? Parent #2 - likely pathogenic (recessive) g.? - 621+1G>A (F207LfsX8) - EZH2_000001 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.32G>A r.(?) p.(Arg11His) Unknown - likely pathogenic g.66460373C>T - - - SBDS_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.120del r.(?) p.(Ser41AlafsTer18) Parent #1 - likely pathogenic (recessive) g.66460286del g.66995299del 120delG - SBDS_000020 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
-?/. - c.127G>T r.(?) p.(Val43Leu) Unknown - likely benign g.66460278C>A g.66995291C>A SBDS(NM_016038.2):c.127G>T (p.(Val43Leu), p.V43L) - SBDS_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.127G>T r.(?) p.(Val43Leu) Unknown - likely benign g.66460278C>A g.66995291C>A SBDS(NM_016038.2):c.127G>T (p.(Val43Leu), p.V43L) - SBDS_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.128+1G>C r.spl? p.? Unknown - pathogenic g.66460276C>G - - - SBDS_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.131A>G r.(?) p.(Glu44Gly) Parent #1 - likely pathogenic (recessive) g.66459326T>C g.66994339T>C - - SBDS_000019 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.131A>G r.(?) p.(Glu44Gly) Parent #1 - likely pathogenic (recessive) g.66459326T>C g.66994339T>C - - SBDS_000019 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
-/. - c.141C>T r.(?) p.(Leu47=) Unknown - benign g.66459316G>A g.66994329G>A SBDS(NM_016038.2):c.141C>T (p.L47=), SBDS(NM_016038.4):c.141C>T (p.L47=) - SBDS_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.141C>T r.(?) p.(Leu47=) Unknown - benign g.66459316G>A g.66994329G>A SBDS(NM_016038.2):c.141C>T (p.L47=), SBDS(NM_016038.4):c.141C>T (p.L47=) - SBDS_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.141C>T r.(?) p.(Leu47=) Unknown - benign g.66459316G>A - SBDS(NM_016038.2):c.141C>T (p.L47=), SBDS(NM_016038.4):c.141C>T (p.L47=) - SBDS_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.183T>C r.(?) p.(Ser61=) Unknown - pathogenic g.66459274A>G g.66994287A>G SBDS(NM_016038.2):c.183T>C (p.S61=) - SBDS_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.183_184delinsCT r.(?) p.(Lys62Ter) Unknown - pathogenic g.66459273_66459274delinsAG g.66994286_66994287delinsAG SBDS(NM_016038.2):c.183_184delTAinsCT (p.K62*) - SBDS_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.183_184delinsCT r.(?) p.(Lys62Ter) Parent #1 - likely pathogenic (recessive) g.66459273_66459274delinsAG g.66994286_66994287delinsAG 183_184TA>CT - SBDS_000008 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.183_184delinsCT r.(?) p.(Lys62Ter) Parent #1 - likely pathogenic (recessive) g.66459273_66459274delinsAG g.66994286_66994287delinsAG 183_184TA>CT - SBDS_000008 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.183_184delinsCT r.(?) p.(Lys62Ter) Parent #1 - likely pathogenic (recessive) g.66459273_66459274delinsAG g.66994286_66994287delinsAG 183_184TA>CT - SBDS_000008 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.183_184delinsCT r.(?) p.(Lys62Ter) Parent #1 - likely pathogenic (recessive) g.66459273_66459274delinsAG g.66994286_66994287delinsAG 183_184TA>CT - SBDS_000008 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.183_184delinsCT r.(?) p.(Lys62Ter) Parent #1 - likely pathogenic (recessive) g.66459273_66459274delinsAG g.66994286_66994287delinsAG 183_184TA>CT - SBDS_000008 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.183_184delinsCT r.(?) p.(Lys62Ter) Parent #1 - likely pathogenic (recessive) g.66459273_66459274delinsAG g.66994286_66994287delinsAG 183_184TA>CT - SBDS_000008 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.183_184delinsCT r.(?) p.(Lys62Ter) Parent #1 - likely pathogenic (recessive) g.66459273_66459274delinsAG g.66994286_66994287delinsAG 183_184TA>CT - SBDS_000008 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.183_184delinsCT r.(?) p.(Lys62Ter) Parent #1 - likely pathogenic (recessive) g.66459273_66459274delinsAG g.66994286_66994287delinsAG 183_184TA>CT - SBDS_000008 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.183_184delinsCT r.(?) p.(Lys62Ter) Parent #1 - likely pathogenic (recessive) g.66459273_66459274delinsAG g.66994286_66994287delinsAG 183_184TA>CT - SBDS_000008 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.183_184delinsCT r.(?) p.(Lys62Ter) Parent #1 - likely pathogenic (recessive) g.66459273_66459274delinsAG g.66994286_66994287delinsAG 183_184TA>CT - SBDS_000008 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.183_184delinsCT r.(?) p.(Lys62Ter) Parent #1 - likely pathogenic (recessive) g.66459273_66459274delinsAG g.66994286_66994287delinsAG 183_184TA>CT - SBDS_000008 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.183_184delinsCT r.(?) p.(Lys62Ter) Parent #1 - likely pathogenic (recessive) g.66459273_66459274delinsAG g.66994286_66994287delinsAG 183_184TA>CT - SBDS_000008 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.183_184delinsCT r.(?) p.(Lys62Ter) Parent #1 - likely pathogenic (recessive) g.66459273_66459274delinsAG g.66994286_66994287delinsAG 183_184TA>CT - SBDS_000008 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.183_184delinsCT r.(?) p.(Lys62Ter) Parent #1 - likely pathogenic (recessive) g.66459273_66459274delinsAG g.66994286_66994287delinsAG 183_184TA>CT - SBDS_000008 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.183_184delinsCT r.(?) p.(Lys62Ter) Parent #1 - likely pathogenic (recessive) g.66459273_66459274delinsAG g.66994286_66994287delinsAG 183_184TA>CT;258+2T>C - SBDS_000008 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.183_184delinsCT r.(?) p.(Lys62Ter) Parent #1 - likely pathogenic (recessive) g.66459273_66459274delinsAG g.66994286_66994287delinsAG 184_184TA>CT;258+2T>C - SBDS_000008 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.183_184delinsCT r.(?) p.(Lys62Ter) Parent #1 - likely pathogenic (recessive) g.66459273_66459274delinsAG g.66994286_66994287delinsAG 185_184TA>CT;258+2T>C - SBDS_000008 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.183_184delinsCT r.(?) p.(Lys62Ter) Parent #1 - likely pathogenic (recessive) g.66459273_66459274delinsAG g.66994286_66994287delinsAG 186_184TA>CT;258+2T>C - SBDS_000008 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.183_184delinsCT r.(?) p.(Lys62Ter) Parent #1 - likely pathogenic (recessive) g.66459273_66459274delinsAG g.66994286_66994287delinsAG 187_184TA>CT;258+2T>C - SBDS_000008 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.183_184delinsCT r.(?) p.(Lys62Ter) Parent #1 - likely pathogenic (recessive) g.66459273_66459274delinsAG g.66994286_66994287delinsAG 188_184TA>CT;258+2T>C - SBDS_000008 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+/. - c.184A>T r.(?) p.(Lys62Ter) Unknown - pathogenic g.66459273T>A g.66994286T>A SBDS(NM_016038.2):c.184A>T (p.K62*, p.(Lys62*)), SBDS(NM_016038.4):c.184A>T (p.K62*) - SBDS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.184A>T r.(?) p.(Lys62Ter) Unknown - pathogenic g.66459273T>A g.66994286T>A SBDS(NM_016038.2):c.184A>T (p.K62*, p.(Lys62*)), SBDS(NM_016038.4):c.184A>T (p.K62*) - SBDS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.184A>T r.(?) p.(Lys62Ter) Unknown - pathogenic g.66459273T>A g.66994286T>A SBDS(NM_016038.2):c.184A>T (p.K62*, p.(Lys62*)), SBDS(NM_016038.4):c.184A>T (p.K62*) - SBDS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.184A>T r.(?) p.(Lys62*) Maternal (confirmed) - pathogenic g.66459273T>A g.66994286T>A - - SBDS_000007 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - - - DNA SEQ, SEQ-NG - WES ? Pat95 PubMed: Pronicka 2016 PI neural tube defect F - Poland - - - - - 1 Johan den Dunnen
+/. - c.184A>T r.(?) p.(Lys62Ter) Unknown - pathogenic g.66459273T>A - SBDS(NM_016038.2):c.184A>T (p.K62*, p.(Lys62*)), SBDS(NM_016038.4):c.184A>T (p.K62*) - SBDS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.184A>T r.(?) p.(Lys62Ter) Unknown - pathogenic g.66459273T>A - SBDS(NM_016038.2):c.184A>T (p.K62*, p.(Lys62*)), SBDS(NM_016038.4):c.184A>T (p.K62*) - SBDS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.188G>C r.(?) p.(Gly63Ala) Unknown - VUS g.66459269C>G - SBDS(NM_016038.4):c.188G>C (p.G63A) - SBDS_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.201A>G r.(?) p.(Lys67=) Unknown - benign g.66459256T>C g.66994269T>C SBDS(NM_016038.2):c.201A>G (p.K67=) - SBDS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.201A>G r.(?) p.(Lys67=) Unknown - benign g.66459256T>C g.66994269T>C SBDS(NM_016038.2):c.201A>G (p.K67=) - SBDS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.258+2T>C r.spl? p.? Unknown - likely pathogenic g.66459197A>G g.66994210A>G NM_016038.2(SBDS):c.258+2T>C r.spl p.? - SBDS_000002 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-711A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
+/. - c.258+2T>C r.spl? p.? Unknown - pathogenic g.66459197A>G g.66994210A>G SBDS(NM_016038.2):c.258+2T>C (p.?), SBDS(NM_016038.4):c.258+2T>C - SBDS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.258+2T>C r.spl? p.? Unknown - pathogenic g.66459197A>G g.66994210A>G SBDS(NM_016038.2):c.258+2T>C (p.?), SBDS(NM_016038.4):c.258+2T>C - SBDS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.258+2T>C r.spl? p.? Unknown - pathogenic g.66459197A>G g.66994210A>G SBDS(NM_016038.2):c.258+2T>C (p.?), SBDS(NM_016038.4):c.258+2T>C - SBDS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.258+2T>C r.spl? p.? Unknown - pathogenic g.66459197A>G g.66994210A>G SBDS(NM_016038.2):c.258+2T>C (p.?), SBDS(NM_016038.4):c.258+2T>C - SBDS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.258+2T>C r.spl? p.? Unknown - pathogenic g.66459197A>G g.66994210A>G SBDS(NM_016038.2):c.258+2T>C (p.?), SBDS(NM_016038.4):c.258+2T>C - SBDS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.258+2T>C r.spl? p.? Unknown - pathogenic g.66459197A>G g.66994210A>G SBDS(NM_016038.2):c.258+2T>C (p.?), SBDS(NM_016038.4):c.258+2T>C - SBDS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.258+2T>C r.spl? p.? Paternal (confirmed) - pathogenic g.66459197A>G g.66994210A>G - - SBDS_000002 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - - - DNA SEQ, SEQ-NG - WES ? Pat95 PubMed: Pronicka 2016 PI neural tube defect F - Poland - - - - - 1 Johan den Dunnen
+/. - c.258+2T>C r.spl? p.? Both (homozygous) - likely pathogenic (recessive) g.66459197A>G g.66994210A>G NM_016038.2:c.258+2T>C - SBDS_000002 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 14DG0902 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - 1 LOVD
+/. - c.258+2T>C r.spl p.? Both (homozygous) ACMG pathogenic g.66459197A>G g.66994210A>G - - SBDS_000002 ACMG PVS1, PS4, PM2 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - WES ID 14DG0902 PubMed: Anazi 2017 simplex case F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+?/. - c.258+2T>C r.spl p.? Parent #1 - likely pathogenic (recessive) g.66459197A>G g.66994210A>G - - SBDS_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.258+2T>C r.spl p.? Parent #1 - likely pathogenic (recessive) g.66459197A>G g.66994210A>G - - SBDS_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.258+2T>C r.spl p.? Parent #2 - likely pathogenic (recessive) g.66459197A>G g.66994210A>G - - SBDS_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.258+2T>C r.spl p.? Parent #2 - likely pathogenic (recessive) g.66459197A>G g.66994210A>G - - SBDS_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.258+2T>C r.spl p.? Parent #2 - likely pathogenic (recessive) g.66459197A>G g.66994210A>G - - SBDS_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.258+2T>C r.spl p.? Parent #2 - likely pathogenic (recessive) g.66459197A>G g.66994210A>G - - SBDS_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.258+2T>C r.spl p.? Parent #2 - likely pathogenic (recessive) g.66459197A>G g.66994210A>G - - SBDS_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.258+2T>C r.spl p.? Parent #2 - likely pathogenic (recessive) g.66459197A>G g.66994210A>G - - SBDS_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.258+2T>C r.spl p.? Parent #2 - likely pathogenic (recessive) g.66459197A>G g.66994210A>G - - SBDS_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.258+2T>C r.spl p.? Parent #2 - likely pathogenic (recessive) g.66459197A>G g.66994210A>G - - SBDS_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.258+2T>C r.spl p.? Parent #2 - likely pathogenic (recessive) g.66459197A>G g.66994210A>G - - SBDS_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.258+2T>C r.spl p.? Parent #2 - likely pathogenic (recessive) g.66459197A>G g.66994210A>G - - SBDS_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.258+2T>C r.spl p.? Parent #2 - likely pathogenic (recessive) g.66459197A>G g.66994210A>G - - SBDS_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.258+2T>C r.spl p.? Parent #2 - likely pathogenic (recessive) g.66459197A>G g.66994210A>G - - SBDS_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.258+2T>C r.spl p.? Parent #2 - likely pathogenic (recessive) g.66459197A>G g.66994210A>G - - SBDS_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.258+2T>C r.spl p.? Parent #2 - likely pathogenic (recessive) g.66459197A>G g.66994210A>G - - SBDS_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.258+2T>C r.spl p.? Parent #2 - likely pathogenic (recessive) g.66459197A>G g.66994210A>G - - SBDS_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.258+2T>C r.spl p.? Parent #2 - likely pathogenic (recessive) g.66459197A>G g.66994210A>G - - SBDS_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.258+2T>C r.spl p.? Parent #2 - likely pathogenic (recessive) g.66459197A>G g.66994210A>G - - SBDS_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.258+2T>C r.spl p.? Parent #2 - likely pathogenic (recessive) g.66459197A>G g.66994210A>G - - SBDS_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.258+2T>C r.spl p.? Parent #2 - likely pathogenic (recessive) g.66459197A>G g.66994210A>G - - SBDS_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.258+2T>C r.spl p.? Parent #2 - likely pathogenic (recessive) g.66459197A>G g.66994210A>G - - SBDS_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.258+2T>C r.spl p.? Parent #2 - likely pathogenic (recessive) g.66459197A>G g.66994210A>G - - SBDS_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.258+2T>C r.spl p.? Parent #2 - likely pathogenic (recessive) g.66459197A>G g.66994210A>G - - SBDS_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.258+2T>C r.spl p.? Parent #2 - likely pathogenic (recessive) g.66459197A>G g.66994210A>G - - SBDS_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.258+2T>C r.spl p.? Parent #2 - likely pathogenic (recessive) g.66459197A>G g.66994210A>G - - SBDS_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.258+2T>C r.spl p.? Parent #1 - likely pathogenic (recessive) g.66459197A>G g.66994210A>G 183_184TA>CT;258+2T>C - SBDS_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.258+2T>C r.spl p.? Parent #1 - likely pathogenic (recessive) g.66459197A>G g.66994210A>G 184_184TA>CT;258+2T>C - SBDS_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.258+2T>C r.spl p.? Parent #1 - likely pathogenic (recessive) g.66459197A>G g.66994210A>G 185_184TA>CT;258+2T>C - SBDS_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.258+2T>C r.spl p.? Parent #1 - likely pathogenic (recessive) g.66459197A>G g.66994210A>G 186_184TA>CT;258+2T>C - SBDS_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.258+2T>C r.spl p.? Parent #1 - likely pathogenic (recessive) g.66459197A>G g.66994210A>G 187_184TA>CT;258+2T>C - SBDS_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+?/. - c.258+2T>C r.spl p.? Parent #1 - likely pathogenic (recessive) g.66459197A>G g.66994210A>G 188_184TA>CT;258+2T>C - SBDS_000002 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
-/. - c.258+19A>G r.(=) p.(=) Unknown - benign g.66459180T>C g.66994193T>C SBDS(NM_016038.4):c.258+19A>G - SBDS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.258+19A>G r.(=) p.(=) Unknown - benign g.66459180T>C - SBDS(NM_016038.4):c.258+19A>G - SBDS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.258+54T>G r.(=) p.(=) Unknown - benign g.66459145A>C g.66994158A>C SBDS(NM_016038.2):c.258+54T>G - SBDS_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.260T>G r.(?) p.(Ile87Ser) Parent #1 - likely pathogenic (recessive) g.66458403A>C g.66993416A>C - - SBDS_000018 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+/. - c.297_300del r.(?) p.(Glu99AspfsTer21) Unknown - pathogenic g.66458368_66458371del g.66993381_66993384del SBDS(NM_016038.2):c.297_300delAAGA (p.E99Dfs*21) - SBDS_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.297_300del r.(?) p.(Glu99AspfsTer21) Unknown - pathogenic g.66458368_66458371del g.66993381_66993384del SBDS(NM_016038.2):c.297_300delAAGA (p.E99Dfs*21) - SBDS_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.379C>A r.(?) p.(Pro127Thr) Unknown - VUS g.66458284G>T - SBDS(NM_016038.4):c.379C>A (p.(Pro127Thr)) - SBDS_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.386C>G r.(?) p.(Thr129Ser) Unknown - VUS g.66458277G>C g.66993290G>C SBDS(NM_016038.2):c.386C>G (p.T129S) - SBDS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.386C>G r.(?) p.(Thr129Ser) Unknown - likely benign g.66458277G>C - SBDS(NM_016038.2):c.386C>G (p.T129S) - SBDS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.388G>A r.(?) p.(Val130Met) Unknown - pathogenic g.66458275C>T - SBDS(NM_016038.4):c.388G>A (p.(Val130Met)) - SBDS_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.388G>T r.(?) p.(Val130Leu) Parent #2 - likely pathogenic (recessive) g.66458275C>A g.66993288C>A - - SBDS_000017 - PubMed: Tsangaris 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
?/. - c.500T>C r.(?) p.(Ile167Thr) Unknown - VUS g.66456248A>G - SBDS(NM_016038.2):c.500T>C (p.(Ile167Thr)) - SBDS_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.505C>T r.(?) p.(Arg169Cys) Parent #1 - VUS g.66456243G>A g.66991256G>A - - SBDS_000013 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs113993996 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.505C>T r.(?) p.(Arg169Cys) Unknown - likely pathogenic g.66456243G>A - SBDS(NM_016038.4):c.505C>T (p.R169C) - SBDS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.523C>T r.(?) p.(Arg175Trp) Unknown - likely pathogenic g.66456225G>A g.66991238G>A SBDS(NM_016038.2):c.523C>T (p.(Arg175Trp)) - SBDS_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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