Unique variants in gene SBDS

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

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
-?/. 2 - c.127G>T likely benign r.(?) p.(Val43Leu) g.66460278C>A - SBDS(NM_016038.2):c.127G>T (p.V43L) - SBDS_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Leiden
-/. 2 - c.141C>T benign r.(?) p.(=) g.66459316G>A - SBDS(NM_016038.2):c.141C>T (p.=) - SBDS_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Utrecht
+/. 1 - c.183T>C pathogenic r.(?) p.(=) g.66459274A>G - SBDS(NM_016038.2):c.183T>C (p.S61=) - SBDS_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.183_184delinsCT pathogenic r.(?) p.(Lys62*) g.66459273_66459274delinsAG - SBDS(NM_016038.2):c.183_184delTAinsCT (p.K62*) - SBDS_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/., ?/. 3 - c.184A>T pathogenic, VUS r.(?) p.(Lys62*) g.66459273T>A - SBDS(NM_016038.2):c.184A>T (p.K62*) - SBDS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC, VKGL-NL_Leiden
-/. 2 - c.201A>G benign r.(?) p.(=) g.66459256T>C - SBDS(NM_016038.2):c.201A>G (p.=) - SBDS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/., ./., ?/. 7 - c.258+2T>C pathogenic, VUS r.spl? p.? g.66459197A>G g.66994210A>G SBDS(NM_016038.2):c.258+2T>C (p.?), NM_016038.2(SBDS):c.258+2T>C r.spl p.? - SBDS_000002 VKGL data sharing initiative Nederland, variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Marjolijn JL Ligtenberg, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC, VKGL-NL_Leiden, VKGL-NL_VUmc
-/. 1 - c.258+19A>G benign r.(=) p.(=) g.66459180T>C - SBDS(NM_016038.2):c.258+19A>G - SBDS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.258+54T>G benign r.(=) p.(=) g.66459145A>C - SBDS(NM_016038.2):c.258+54T>G - SBDS_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.297_300del pathogenic r.(?) p.(Glu99Aspfs*21) g.66458368_66458371del - SBDS(NM_016038.2):c.297_300delAAGA (p.E99Dfs*21) - SBDS_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.386C>G VUS r.(?) p.(Thr129Ser) g.66458277G>C - SBDS(NM_016038.2):c.386C>G (p.T129S) - SBDS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.505C>T likely pathogenic r.(?) p.(Arg169Cys) g.66456243G>A - SBDS(NM_016038.2):c.505C>T (p.R169C) - SBDS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/., ?/. 12 - c.635T>C likely benign, benign r.(?) p.(Ile212Thr) g.66453476A>G g.66988489A>G SBDS(NM_016038.2):c.635T>C (p.I212T) - SBDS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc, VKGL-NL_Groningen, Gerard C.P. Schaafsma, VKGL-NL_Leiden
+?/. 1 - c.652C>T likely pathogenic r.(?) p.(Arg218*) g.66453459G>A - SBDS(NM_016038.2):c.652C>T (p.R218*) - SBDS_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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