GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
MFN2 V69Finsufficiently evaluated pathogenicunknown

(10 web hits)

MFN2 L76Pinsufficiently evaluated pathogenicunknown

(16 web hits)

MFN2 R94Qinsufficiently evaluated pathogenicunknown

(42 web hits)

MFN2 R94Winsufficiently evaluated pathogenicunknown

(37 web hits)

MFN2 R104Winsufficiently evaluated pathogenicunknown

(10 web hits)

MFN2 H165Dinsufficiently evaluated pathogenicunknown

(7 web hits)

MFN2 T206Iinsufficiently evaluated pathogenicunknown

(10 web hits)

MFN2 P251Ainsufficiently evaluated pathogenicunknown

(12 web hits)

MFN2 Q276Rinsufficiently evaluated pathogenicunknown

(7 web hits)

MFN2 R280Hinsufficiently evaluated pathogenicunknown

(27 web hits)

MFN2 G298Rinsufficiently evaluated not reviewed, f=0.003unknown

(2 web hits)

MFN2 K357Ninsufficiently evaluated pathogenicunknown

(7 web hits)

MFN2 R364Winsufficiently evaluated pathogenicunknown

(27 web hits)

MFN2 P456Linsufficiently evaluated none, f=0.008unknown

(2 web hits)

var-GS18956-1100-36-ASM
MFN2 V705Iinsufficiently evaluated not reviewed, f=0.003unknown CGI sample GS00253-DNA_G01_200_37
MFN2 R707Wpathogenic, f=0.000recessive

Reported to cause Charcot-Marie-Tooth disease type 2 in a recessive manner, causing peripheral neuropathy and clubfoot. Insufficient observations to establish statistical significance for this particular variant, but other variants in this gene are well-established as causal.

MFN2 W740Sinsufficiently evaluated pathogenicunknown

(14 web hits)

Page: 1 2
Total results: 17

Gene search

"GENE" or "GENE A123C":

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