U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MFN2
(R519C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2A2
+2 more
GUncertain significance
MFN2
(R707W)
Single nucleotide variant
(missense variant)
not provided
+9 more
GPathogenic/Likely pathogenic