All transcript variants in gene MYOM2

Information The variants shown are described using the NM_003970.2 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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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.-12-5T>C benign r.spl? p.? g.1998864T>C - MYOM2:c.-12-5T>C - MYOM2_000015 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.98C>A benign r.(?) p.(Ala33Glu) g.1998978C>A - MYOM2:c.98C>A (A33E) - MYOM2_000016 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.230C>T likely benign r.(?) p.(Thr77Met) g.2000398C>T - MYOM2:c.230C>T (T77M) - MYOM2_000017 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.241G>A benign r.(?) p.(Glu81Lys) g.2000409G>A - MYOM2:c.241G>A (E81K) - MYOM2_000018 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.590C>T likely benign r.(?) p.(Ala197Val) g.2007303C>T - MYOM2:c.590C>T (A197V) - MYOM2_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.591G>A likely benign r.(=) p.(=) g.2007304G>A - MYOM2:c.591G>A (=) - MYOM2_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.654-9C>T benign r.(=) p.(=) g.2017388C>T - MYOM2:c.654-9C>T - MYOM2_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.770G>A likely benign r.(?) p.(Arg257His) g.2017593G>A - MYOM2:c.770G>A (R257H) - MYOM2_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.775G>A VUS r.(?) p.(Val259Met) g.2017598G>A - MYOM2:c.775G>A (V259M) - MYOM2_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1087G>A benign r.(?) p.(Val363Ile) g.2021547G>A - MYOM2:c.1087G>A (V363I) - MYOM2_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1098C>T likely benign r.(=) p.(=) g.2021558C>T - MYOM2:c.1098C>T (=) - MYOM2_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1617G>C likely benign - - g.2033495G>C - MYOM2:NM_003970.2:c.1617G>C - MYOM2_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1688C>T likely benign r.(?) p.(Thr563Met) g.2037874C>T - MYOM2:c.1688C>T (T563M) - MYOM2_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1943G>A likely benign r.(?) p.(Cys648Tyr) g.2040288G>A - MYOM2:c.1943G>A (C648Y) - MYOM2_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.2730A>C VUS r.(?) p.(Arg910Ser) g.2050567A>C - MYOM2:c.2730A>C (R910S) - MYOM2_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.2942C>A VUS - - g.2054331C>A - MYOM2:NM_003970.2:c.2942C>A - MYOM2_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.3707C>T likely benign r.(?) p.(Ser1236Leu) g.2077127C>T - MYOM2:c.3707C>T (S1236L) - MYOM2_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.3997T>C benign r.(?) p.(Phe1333Leu) g.2089096T>C - MYOM2:c.3997T>C (F1333L) - MYOM2_000014 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
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