GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
MTMR2 K3Tinsufficiently evaluated none, f=0.240unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
hu3215A7 build 36 substitution variants
CGI sample GS01175-DNA_B05 from PGP sample 83494370
hu232307 build 36 substitution variants (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
MTMR2 V44Iinsufficiently evaluated not reviewed, f=0.004unknown var-GS19701-1100-36-ASM
MTMR2 E163Ginsufficiently evaluated not reviewedunknown
MTMR2 E235Ginsufficiently evaluated not reviewedunknown
MTMR2 E276Xinsufficiently evaluated pathogenicunknown

(16 web hits)

MTMR2 Y366Ninsufficiently evaluated not reviewedunknown
MTMR2 Q426Xinsufficiently evaluated pathogenicunknown

(9 web hits)

MTMR2 E430Qinsufficiently evaluated not reviewedunknown
MTMR2 Y438Ninsufficiently evaluated not reviewedunknown

(1 web hit)

MTMR2 N473Sinsufficiently evaluated noneunknown
MTMR2 Q482Xinsufficiently evaluated pathogenicunknown

(7 web hits)

MTMR2 E502Qinsufficiently evaluated not reviewed, f=0.033unknown

(2 web hits)

CGI sample GS01669-DNA_F02 from PGP sample 40767107
MTMR2 N545Sinsufficiently evaluated pathogenic, f=0.013recessive

This variant, present in all versions, was found in one patient with autosomal recessive Charcot-Marie-Tooth type 4B, but the compounding variant was not found.

(2 web hits)

MTMR2 A602Ginsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
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Total results: 14

Gene search

"GENE" or "GENE A123C":

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