All transcript variants in gene EXT2

A Multiple Osteochondroma Mutation Database
Information The variants shown are described using the transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

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     
-/. - c.69+5G>A benign r.spl? p.? g.44117876G>A - EXT2:c.69+5G>A - EXT2_000017 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.223A>G benign r.(?) p.(Met75Val) g.44129386A>G - EXT2:c.223A>G (M75V) - EXT2_000392 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. - c.480del pathogenic r.(?) p.(Arg161Glyfs*142) g.44129643del - EXT2:c.480delT (R161Gfs*142) - EXT2_000393 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.494_495del pathogenic r.(?) p.(Glu165Alafs*9) g.44129657_44129658del - EXT2:c.494_495delTG (E165Afs*9) - EXT2_000394 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.514C>T pathogenic - - g.44129677C>T - EXT2:c.514C>T (H172Y) - EXT2_000395 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.618G>C benign r.(=) p.(=) g.44129781G>C - EXT2:c.618G>C (=) - EXT2_000076 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. - c.659G>A pathogenic - - g.44130767G>A - EXT2:c.659G>A (R220Q) - EXT2_000396 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.809C>T likely benign r.(?) p.(Ser270Leu) g.44135818C>T - EXT2:NM_000401.3:c.809C>T, NM_001178083.1:c.710C>T, … - EXT2_000126 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.843-10T>G likely benign r.(=) p.(=) g.44146329T>G - EXT2:c.843-10T>G - EXT2_000397 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.847C>T VUS r.(?) p.(Arg283Trp) g.44146343C>T - EXT2:c.847C>T (R283W) - EXT2_000398 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. - c.1055del pathogenic r.(?) p.(Val352Glyfs*13) g.44148382del - EXT2:c.1055delT (V352Gfs*13) - EXT2_000399 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1098T>C benign r.(=) p.(=) g.44148425T>C - EXT2:c.1098T>C (=) - EXT2_000400 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. 6 c.1178G>A - r.spl? p.(Arg393Lys) g.44148505G>A g.44126955G>A - - EXT2_000391 - - - rs138187791 Germline yes - - 0 - Patrizia De Marco
-?/. - c.1178+7A>T likely benign r.(=) p.(=) g.44148512A>T - EXT2:c.1178+7A>T - EXT2_000401 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.1273-18G>T benign r.(=) p.(=) g.44193143G>T - EXT2:c.1273-18G>T - EXT2_000191 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.1470C>T likely benign r.(=) p.(=) g.44219444C>T - EXT2:c.1470C>T (=) - EXT2_000402 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.1511G>A VUS r.(?) p.(Arg504Gln) g.44219485G>A - EXT2:c.1442G>A (R481Q) - EXT2_000403 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1687G>A likely benign r.(?) p.(Glu563Lys) g.44228435G>A - EXT2:c.1687G>A (E563K) - EXT2_000404 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.1744C>T likely benign r.(=) p.(=) g.44228492C>T - EXT2:c.1744C>T (=) - EXT2_000405 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.1805G>A VUS r.(?) p.(Arg602His) g.44253946G>A - EXT2:c.1736G>A (R579H) - EXT2_000406 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1825G>A likely benign r.(?) p.(Glu609Lys) g.44253966G>A - EXT2:c.1825G>A (E609K) - EXT2_000215 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
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