U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862983, MGME1
(T68S)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 11
GUncertain significance
MGME1
(R220Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
MGME1
(T222N +3 more)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 11
GUncertain significance
LOC126862983, MGME1
(S19del)
Deletion
(inframe_deletion)
Mitochondrial DNA depletion syndrome 11
+1 more
GUncertain significance
LOC126862983, MGME1
(P81R)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 11
+1 more
GConflicting classifications of pathogenicity
MGME1
(R193W +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
LOC126862983, MGME1
(P120fs)
Deletion
(frameshift variant +1 more)
Mitochondrial DNA depletion syndrome 11
GPathogenic
LOC126862983, MGME1
(S15C)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
MGME1
(T280I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign/Likely benign
MGME1
(Y233C +2 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 11
GPathogenic
LOC126862983, MGME1
(W152*)
Single nucleotide variant
(nonsense +1 more)
Mitochondrial DNA depletion syndrome 11
GLikely pathogenic
Format
Items per page
Sort by
Choose Destination