Transcript #00014202

Transcript name transcript variant 1
Gene name MYOT (myotilin)
Chromosome 5
Transcript - NCBI ID NM_006790.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_006781.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

149 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
./. - c.-13375330_*8494211dup - - -
-/. 1 c.-251A>G benign r.(?) p.(=)
-/. 1 c.-124T>G benign r.(?) p.(=)
+/. - c.17G>A pathogenic (dominant) r.(?) p.(Arg6His)
?/. 2 c.34C>G VUS r.(?) p.(Gln12Glu)
+/. 2 c.106A>G pathogenic (dominant) r.(?) p.(Lys36Glu)
+/. 2 c.106A>G pathogenic (dominant) r.(?) p.(Lys36Glu)
+/. 2 c.116C>T pathogenic (dominant) r.(?) p.(Ser39Phe)
+/. 2 c.116C>T pathogenic (dominant) r.(?) p.(Ser39Phe)
+/. 2 c.116C>T pathogenic (dominant) r.(?) p.(Ser39Phe)
-?/. - c.120T>A likely benign r.(?) p.(=)
?/. 2 c.122T>C VUS r.(?) p.(Ile41Thr)
?/. - c.140G>A VUS r.(?) p.(Cys47Tyr)
-/. - c.149A>G benign r.(?) p.(Gln50Arg)
-/. 2 c.149A>G benign r.(?) p.(Gln50Arg)
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe)
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe)
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe)
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe)
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe)
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe)
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe)
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe)
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe)
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe)
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe)
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe)
+/. 2 c.164C>T pathogenic (dominant) r.(?) p.(Ser55Phe)
+/. 2 c.(170C>T) pathogenic (dominant) r.170c>u p.Thr57Ile
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile)
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile)
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile)
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile)
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile)
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile)
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile)
+/. 2 c.170C>T pathogenic (dominant) r.(?) p.(Thr57Ile)
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile)
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile)
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile)
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile)
+/. 2 c.170C>T pathogenic r.(?) p.(Thr57Ile)
+/. 2 c.170C>T pathogenic (dominant) r.170c>u p.Thr57Ile
+/. 2 c.179C>G pathogenic r.(?) p.(Ser60Cys)
+/. 2 c.179C>G pathogenic r.(?) p.(Ser60Cys)
+/. 2 c.179C>G pathogenic r.(?) p.(Ser60Cys)
?/. 2 c.179C>G VUS r.(?) p.(Ser60Cys)
+/. 2 c.179C>G pathogenic r.(?) p.(Ser60Cys)
+/. 2 c.179C>G pathogenic r.(?) p.(Ser60Cys)
+/. 2 c.179C>G pathogenic r.(?) p.(Ser60Cys)
+/. 2 c.179C>G pathogenic r.(?) p.(Ser60Cys)
+/. 2 c.179C>G pathogenic r.(?) p.(Ser60Cys)
+/. 2 c.179C>G pathogenic r.(?) p.(Ser60Cys)
+/. 2 c.179C>G pathogenic r.(?) p.(Ser60Cys)
+/. - c.179C>G pathogenic r.(?) p.(Ser60Cys)
+/. 2 c.179C>G pathogenic (dominant) r.(?) p.(Ser60Cys)
+/. 2 c.179C>G pathogenic (dominant) r.(?) p.(Ser60Cys)
+/. 2 c.179C>G pathogenic (dominant) r.(?) p.(Ser60Cys)
+/. 2 c.179C>G pathogenic (dominant) r.(?) p.(Ser60Cys)
+/. 2 c.179C>G pathogenic (dominant) r.(?) p.(Ser60Cys)
+/. 2 c.179C>G pathogenic (dominant) r.(?) p.(Ser60Cys)
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe)
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe)
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe)
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe)
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe)
+/. 2 c.179C>T pathogenic r.(?) p.(Ser60Phe)
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe)
+?/. - c.179C>T ACMG: 4 r.(?) p.(Ser60Phe)
+/. 2 c.179C>T pathogenic r.(?) p.(Ser60Phe)
+/. 2 c.179C>T pathogenic r.(?) p.(Ser60Phe)
+/. 2 c.179C>T pathogenic r.(?) p.(Ser60Phe)
+/. 2 c.179C>T pathogenic r.(?) p.(Ser60Phe)
+/. - c.179C>T pathogenic r.(?) p.(Ser60Phe)
?/. - c.179C>T VUS r.(?) p.(Ser60Phe)
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe)
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe)
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe)
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe)
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe)
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe)
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe)
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe)
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe)
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe)
+/. 2 c.179C>T pathogenic (dominant) r.(?) p.(Ser60Phe)
?/. - c.194C>T VUS r.(?) p.(Ser65Phe)
-/. - c.220A>C benign r.(?) p.(Lys74Gln)
-?/. - c.220A>C likely benign r.(?) p.(Lys74Gln)
-/. - c.220A>C benign r.(?) p.(Lys74Gln)
-/. 2 c.220C>A benign r.(?) p.(Gln74Lys)
-/. 2 c.220C>A benign r.(?) p.(Gln74Lys)
-/. 2 c.220C>A benign r.(?) p.(Gln74Lys)
?/. 2 c.220C>A VUS r.(?) p.(Gln74Lys)
+/. 2 c.220C>A pathogenic (dominant) r.(?) p.(Gln74Lys)
+/. 2 c.220C>A pathogenic (dominant) r.(?) p.(Gln74Lys)
?/. 2 c.257C>A VUS r.(?) p.(Thr86Lys)
+/. 2 c.284G>T pathogenic (dominant) r.(?) p.(Ser95Ile)
?/. 2 c.323A>C VUS r.(?) p.(Asn108Thr)
?/. 2 c.323A>C VUS r.(?) p.(Asn108Thr)
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