CCM2 M1V - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!



(CCM2 Met1Val)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



Other external references

  • GeneTests records for the CCM2 gene
    Familial Cerebral Cavernous Malformation
    Familial Cerebral Cavernous Malformation 2
    Web search results (8 hits -- see all)
  • Regis 4000 Brochure
    t"ëä"*M**=*. K÷*(u7ÅσpKr_o*ù3o"¥yfv5#²LÆÆ û =² ... Pû*Æä°B*h-@Nw¬èâCEîΓ|j*Ωµ±;K"T₧p¼îUO^" ùGcGy£**7`Çcm2*jÆÿ*NIgáy_W<]*t;ª *δm*m& I? ...
  • temp
    Their skin is &quot;splotchy&quot;, the color is saturated on both ends, and ... 150dpi, full size 8X10 Dick Snyder was collecting addresses ( ...
  • [Killietalk] Emailing: Ogo wound
    List-help: <> ... List-post: <> List-subscribe: < ...
  • 9c1 : Message: 94 for sale
    9c1: Welcome to the Chevy SEO 9C1 Owners Group ... Fill out this form to ensure your group is one of the first to be migrated to the new message search system. ...
  • [WWI] Tough Builds
    [WWI] Tough Builds. Robert Karr karrart at Thu Nov 22 16:32:03 EST 2007 ... Messages sorted by: [ date ] [ thread ] [ subject ] [ author ] ...
  • Trip Table トリップ一覧 #ャミケマョ-#ャミネヌ゚
    It is a list of the TRIP displayed in a certain BBS.よくある掲示板で表示されるトリップの一覧(例)です。 ... ャミケモレ:.m1V/P/J5E #ャミシメク:xkVqgs6CtA #ャミソミミ:gqzF/Bl8Bc #ャミツホー:J8cRiTSjAE #ャミナヘニ:vcpMPcgjqw ...
  • Guinea hen 6/9 - 6guineasauced.JPG (4/4) - Cooking Recipes Forums
    MBMY<17,L:+F2/[ISDG'Z9]ZRG1C2C:/4XHR<FKE%[$+*H*<$],5>(72/)U*V MN;26<.&6!48E<8X.1BL*-.,9IL[DVU9&W-:TOQ%X<M+FQGA?48Y`=GEMN& M5PPS[$C\J

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 5

Edit history

Gene search

"GENE" or "GENE A123C":

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