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VariantImpactInheritance patternSummaryGenomes
CCM2 M1Vinsufficiently evaluated pathogenicunknown

(8 web hits)

CCM2 V53Iinsufficiently evaluated none, f=0.067unknown

(3 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
CCM2 V62Iinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
CCM2 V74Iinsufficiently evaluated noneunknown

(4 web hits)

CCM2 Q107Xinsufficiently evaluated pathogenicunknown

(1 web hit)

CCM2 V120Iinsufficiently evaluated not reviewed, f=0.135unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu3215A7 build 36 substitution variants
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19649-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS00253-DNA_D01_200_37
hu728FFF build 36 substitution variants
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM
CCM2 V141Iinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
CCM2 L198Rinsufficiently evaluated pathogenicunknown

(6 web hits)

CCM2 S289Ninsufficiently evaluated not reviewed, f=0.001unknown var-GS18947-1100-36-ASM
var-GS19670-1100-36-ASM
Total results: 9

Gene search

"GENE" or "GENE A123C":

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