Unique variants in gene RUNX2

Information The variants shown are described using the NM_001024630.3 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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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     
?/. 1 - c.58+97T>C VUS r.(=) p.(=) g.45296618T>C - SUPT3H(NM_181356.2):c.-51-5914A>G - SUPT3H_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.174_206del likely benign r.(?) p.(Gln61_Gln71del) g.45390445_45390477del - RUNX2(NM_001015051.3):c.163_195del (p.(Gln61_Gln71del), p.(Gln47_Gln57del)) - SUPT3H_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.240G>A benign r.(?) p.(=) g.45390511G>A - RUNX2(NM_001024630.3):c.240G>A (p.A80=) - RUNX2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 2 - c.243_260del likely benign, benign r.(?) p.(Ala84_Ala89del) g.45390514_45390531del - RUNX2(NM_001024630.3):c.243_260delGGCGGCTGCGGCGGCGGC (p.A84_A89del) - RUNX2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
-?/. 1 - c.246_248del likely benign r.(?) p.(Ala89del) g.45390517_45390519del - RUNX2(NM_001024630.3):c.246_248delGGC (p.A89del) - SUPT3H_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.346A>G likely pathogenic r.(?) p.(Thr116Ala) g.45390617A>G - RUNX2(NM_001024630.3):c.346A>G (p.T116A) - RUNX2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.368G>A pathogenic r.(?) p.(Cys123Tyr) g.45390639G>A - RUNX2(NM_001024630.3):c.368G>A (p.C123Y) - RUNX2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 3 c.400A>G - r.(?) p.(Lys134Glu) g.45390671A>G g.45422934A>G - - RUNX2_000002 - - - - Germline - - - - - Ariel I Suarez
-/. 1 - c.423+39G>C benign r.(=) p.(=) g.45390733G>C - RUNX2(NM_001024630.3):c.423+39G>C - SUPT3H_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 3i_4i c.(423+1_424-1)_(580+1_581-1)del - r.? p.? g.(45390695_45399599)_(45399757_45405683)del - - - RUNX2_000012 - - - - Germline/De novo (untested) - - - - - Gemeinschaftspraxis für Humangenetik Dresden
+/. 1 - c.625C>T pathogenic r.(?) p.(Gln209*) g.45405728C>T - RUNX2():c.625C>T (p.(Gln209*)) - SUPT3H_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.674G>A pathogenic r.(?) p.(Arg225Gln) g.45405777G>A - RUNX2(NM_001024630.3):c.674G>A (p.R225Q) - RUNX2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 7 c.896A>G - r.(?) p.(Tyr299Cys) g.45480019A>G g.45512282A>G NM_004348.3:c.854A>G (Tyr285Cys) - RUNX2_000001 - - - - Germline - - - - - Gemeinschaftspraxis für Humangenetik Dresden
-?/. 1 - c.1021+46G>A likely benign r.(=) p.(=) g.45480190G>A - RUNX2(NM_001024630.3):c.1021+46G>A - RUNX2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1087+17T>C benign r.(=) p.(=) g.45513036T>C - RUNX2(NM_001024630.3):c.1087+17T>C - RUNX2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.1088-1G>A likely pathogenic r.spl? p.? g.45514563G>A - RUNX2(NM_001024630.3):c.1088-1G>A (r.spl?) - SUPT3H_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1208dup pathogenic r.(?) p.(Val404Serfs*86) g.45514684dup - 1208dupC - RUNX2_000013 - - - - Unknown - - - - - IMGAG
+/. 1 - c.1264del - r.(?) p.(Leu422Cysfs*62) g.45514740del g.45547003del 1264delC - RUNX2_000003 - - - - Germline/De novo (untested) - - - - - Gemeinschaftspraxis für Humangenetik Dresden
?/. 1 - c.1357T>C VUS r.(?) p.(Ser453Pro) g.45514833T>C - - - RUNX2_000014 - - - - Unknown - - - - - IMGAG
?/. 1 - c.1461G>T VUS r.(?) p.(Leu487Phe) g.45514937G>T - RUNX2(NM_001024630.3):c.1461G>T (p.L487F) - SUPT3H_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1531G>A likely benign r.(?) p.(Gly511Ser) g.45515007G>A - RUNX2(NM_001015051.3):c.1465G>A (p.(Gly489Ser), p.(Gly511Ser), p.(Gly475Ser)) - SUPT3H_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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