Transcript #00023885

Transcript name lysine (K)-specific methyltransferase 2D
Gene name KMT2D (lysine (K)-specific methyltransferase 2D)
Chromosome 12
Transcript - NCBI ID NM_003482.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_003473.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

1232 entries on 13 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. 2 c.96C>G - r.(?) p.(Asp32Glu)
-?/. - c.163C>T likely benign r.(?) p.(Pro55Ser)
+/. 2 c.166C>T - r.(?) p.(Gln56*)
+/. 2 c.166C>T - r.(?) p.(Gln56*)
+/. 2 c.166C>T - r.(?) p.(Gln56*)
+/. 2 c.166C>T - r.(?) p.(Gln56*)
+/. 2i c.177-2A>C - r.177_400del p.Ser59Argfs*86
+/. 2i c.177-2A>G - r.spl p.?
+/. 2i c.177-2A>G - r.spl p.?
+?/. - c.207T>A likely pathogenic r.(?) p.(Cys69*)
-/. - c.248G>A benign r.(?) p.(Arg83Gln)
-/. - c.248G>A benign r.(?) p.(Arg83Gln)
-/. 3 c.248G>A - r.(?) p.(Arg83Gln)
+/. - c.303dup pathogenic r.(?) p.(Ser102Glufs*6)
?/. 3 c.346T>C - r.(?) p.(Ser116Pro)
+/. 3i c.400+1G>A - r.177_400del p.Ser59Argfs*86
+/. 3i c.400+2T>C - r.spl p.?
+/. 3i c.400+2T>C - r.spl p.?
+/. 3i c.401-3A>G - r.400_401insag p.Gly134Glufs*75
?/. - c.444C>T VUS r.(?) p.(=)
+/. 4 c.472del - r.(?) p.(Cys158Valfs*50)
-?/. - c.507A>C likely benign r.(?) p.(=)
+/. 4 c.509A>T - r.(?) p.(Gln170Leu)
+/. 4 c.510G>A - r.(?) p.(=)
-/. 4 c.510G>C - r.(?) p.(Gln170His)
+/. 4 c.510G>C - r.(?) p.(Gln170His)
+/. 4i c.510+1G>A - r.spl p.?
+?/. 4i c.511-1G>A pathogenic (dominant) r.spl p.?
-?/. - c.554G>A likely benign r.(?) p.(Arg185His)
+/. 5 c.588del - r.(?) p.(Cys197Alafs*11)
+/. 5 c.589del - r.(?) p.(Cys197Alafs*11)
?/. 5 c.626C>T - r.(?) p.(Thr209Ile)
?/. - c.658G>A VUS r.(?) p.(Gly220Arg)
+/. 5 c.669T>G - r.(?) p.(Tyr223*)
?/. - c.674-7C>A VUS r.(=) p.(=)
+/. - c.696dup pathogenic r.(?) p.(Glu233*)
+/. 6 c.697G>T - r.(?) p.(Glu233*)
+/. 6 c.702del - r.(?) p.(Pro235Glnfs*26)
+/. 6 c.705del - r.(?) p.(Glu237Serfs*24)
+/. 6 c.721del - r.(?) p.(Leu241Cysfs*20)
+/. 6 c.741T>A - r.(?) p.(Cys247*)
+/. 6 c.741T>A - r.(?) p.(Cys247*)
+/. 6 c.751dup - r.(?) p.(Tyr251Leufs*22)
+/. 6 c.751dup - r.(?) p.(Tyr251Leufs*22)
+/. 6i c.839+2T>A - r.spl p.?
?/. 6i c.839+69G>A - r.(=) p.(=)
+/. 6i c.840-1G>A - r.spl p.?
?/. 7 c.859A>G - r.(?) p.(Lys287Glu)
+/. 7 c.859_860insT - r.(?) p.(Lys287Ilefs*6)
-?/. - c.879G>A likely benign r.(?) p.(=)
+/. 7i c.954+1G>T - r.spl p.?
+/. 7i c.955-1G>A - r.spl? p.?
-?/. - c.1010C>T likely benign r.(?) p.(Ser337Leu)
+/. 8 c.1010C>T - r.(?) p.(Ser337Leu)
+/. 8 c.1012G>T - r.(?) p.(Glu338*)
+/. 8 c.1035_1036del - r.(?) p.(Cys346Serfs*17)
?/. - c.1040A>G VUS r.(?) p.(His347Arg)
?/. - c.1042C>T VUS r.(?) p.(Arg348Cys)
+/. 9 c.1142_1143insACCC - r.(?) p.(Thr382Profs*3)
+/. 9 c.1142_1143insACCC - r.(?) p.(Thr382Profs*3)
-?/. - c.1149C>T likely benign r.(?) p.(=)
+/. 9 c.1187C>G - r.(?) p.(Pro396Arg)
?/. - c.1190A>C VUS r.(?) p.(Lys397Thr)
+?/. - c.1258+5G>A likely pathogenic r.spl? p.?
+?/. - c.1258+5G>A likely pathogenic r.spl? p.?
+/. 10 c.1300del - r.(?) p.(Leu434*)
+/. 10 c.1301del - r.(?) p.(Leu434Glnfs*496)
-?/. - c.1305C>T likely benign r.(?) p.(=)
+/. 10 c.1328del - r.(?) p.(Pro443Hisfs*487)
+/. 10 c.1328del - r.(?) p.(Pro443Hisfs*487)
+/. 10 c.1345_1346del - r.(?) p.(Leu449Valfs*5)
+/. 10 c.1345_1346del - r.(?) p.(Leu449Valfs*5)
+/. 10 c.1363del - r.(?) p.(Glu455Asnfs*475)
+/. 10 c.1363del - r.(?) p.(Glu455Asnfs*475)
+/. 10 c.1425del - r.(?) p.(Ala476Hisfs*454)
+/. 10 c.1425del - r.(?) p.(Ala476Hisfs*454)
+/. 10 c.1448dup - r.(?) p.(Leu483Phefs*17)
+/. 10 c.1483_1486del - r.(?) p.(Ser495Argfs*434)
?/. - c.1487C>T VUS r.(?) p.(Pro496Leu)
+/. 10 c.1503dupT - r.(?) p.(Pro502Serfs*7)
+/. 10 c.1512_1513del - r.(?) p.(Pro506Thrfs*2)
+/. 10 c.1530del pathogenic (dominant) r.(?) p.(Pro511Leufs*419)
+/. 10 c.1576_1577del - r.(?) p.(Ser526Thrfs*7)
+/. 10 c.1576_1577del - r.(?) p.(Ser526Thrfs*7)
+/. 10 c.1628C>T - r.(?) p.(Ser543Leu)
+/. 10 c.1634del - r.(?) p.(Leu545Argfs*385)
?/. 10 c.1660T>A - r.(?) p.(Leu554Met)
./. - c.1667C>T - r.(?) p.(Pro556Leu)
?/. 10 c.1668G>A - r.(=) p.(=)
-?/. - c.1725A>T likely benign r.(?) p.(=)
-?/. - c.1762T>C likely benign r.(?) p.(Ser588Pro)
+/. 10 c.1781C>T - r.(?) p.(Pro594Leu)
-?/. - c.1793G>A likely benign r.(?) p.(Arg598His)
-?/. - c.1797G>A likely benign r.(?) p.(=)
-?/. - c.1850T>A likely benign r.(?) p.(Leu617His)
+/. 10 c.1921G>T - r.(?) p.(Glu641*)
?/. - c.1923A>C VUS r.(?) p.(Glu641Asp)
?/. - c.1930A>C VUS r.(?) p.(Met644Leu)
-?/. - c.1940C>A likely benign r.(?) p.(Pro647Gln)
+/. 10 c.1940C>A - r.(?) p.(Pro647Gln)
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