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Links from MedGen

Items: 1 to 100 of 850

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MEGF10
Single nucleotide variant
(synonymous variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(synonymous variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(synonymous variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(synonymous variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(synonymous variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(synonymous variant)
MEGF10-related myopathy
+1 more
GLikely benign
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(synonymous variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(synonymous variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(synonymous variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(synonymous variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(synonymous variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(synonymous variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(synonymous variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(synonymous variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(synonymous variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(synonymous variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Deletion
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
(Q241*)
Single nucleotide variant
(nonsense)
MEGF10-related myopathy
GPathogenic
MEGF10
Single nucleotide variant
(synonymous variant)
MEGF10-related myopathy
GLikely benign
MEGF10
(G696S)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
(C396Y)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
Deletion
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
(Y405C)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Deletion
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
(N580D)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
Single nucleotide variant
(synonymous variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(synonymous variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
(R1000G)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(synonymous variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(synonymous variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(synonymous variant)
MEGF10-related myopathy
+1 more
GLikely benign
MEGF10
(P162A)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
(C699S)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GLikely pathogenic
MEGF10
(V44fs)
Microsatellite
(frameshift variant)
MEGF10-related myopathy
GPathogenic
MEGF10
(C139fs)
Deletion
(frameshift variant)
MEGF10-related myopathy
GPathogenic
MEGF10
Single nucleotide variant
(splice donor variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
(I614N)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
(G157E)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
(F780L)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
Single nucleotide variant
(synonymous variant)
MEGF10-related myopathy
GLikely benign
MEGF10
(C828S)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
(T553P)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(synonymous variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
(S616T)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
Single nucleotide variant
(splice donor variant)
MEGF10-related myopathy
GLikely pathogenic
MEGF10
(S1082T)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
(H115R)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
(G653D)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
(I878V)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
(R81*)
Single nucleotide variant
(nonsense)
MEGF10-related myopathy
GPathogenic
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(synonymous variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
(D53Y)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GBenign
MEGF10
(E574D)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
(S1131T)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
(H50R)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
(C428S)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
(P1054L)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
(H230Q)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
(R455C)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
(Q1125R)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
(T775A)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
(P1108S)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
Single nucleotide variant
(synonymous variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
(P1041L)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
MEGF10
Single nucleotide variant
(intron variant)
MEGF10-related myopathy
GLikely benign
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