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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MEGF10
(C699S)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GLikely pathogenic
MEGF10
Single nucleotide variant
(splice donor variant)
Congenital myopathy 10b, mild variant
GPathogenic
MEGF10
Single nucleotide variant
(missense variant)
Congenital myopathy 10b, mild variant
GPathogenic
MEGF10
Single nucleotide variant
(missense variant)
Congenital myopathy 10b, mild variant
GPathogenic
MEGF10
Single nucleotide variant
(splice acceptor variant)
Congenital myopathy 10b, mild variant
GPathogenic
MEGF10
(R71W)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
(C326R)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GPathogenic
MEGF10
(C774R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
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