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Links from MedGen

Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GFM2
Single nucleotide variant
(splice donor variant)
Combined oxidative phosphorylation deficiency 39
GLikely pathogenic
GFM2
(I689V +2 more)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation deficiency 39
GUncertain significance
GFM2
(Q675* +2 more)
Single nucleotide variant
(nonsense +1 more)
Combined oxidative phosphorylation deficiency 39
GUncertain significance
GFM2
(D112E +1 more)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation deficiency 39
GUncertain significance
GFM2
(L375P +1 more)
Single nucleotide variant
(missense variant +2 more)
Combined oxidative phosphorylation deficiency 39
GUncertain significance
GFM2
(H539N +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GFM2
(R539S +2 more)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation deficiency 39
GUncertain significance
GFM2
(R154Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation deficiency 39
GUncertain significance
GFM2
(I67T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GFM2
(Y92S +1 more)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation deficiency 39
+1 more
GPathogenic
GFM2
(E213fs +1 more)
Deletion
(frameshift variant +1 more)
Combined oxidative phosphorylation deficiency 39
+1 more
GPathogenic
GFM2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation deficiency 39
+2 more
GConflicting classifications of pathogenicity
GFM2
Single nucleotide variant
(splice acceptor variant)
Combined oxidative phosphorylation deficiency 39
GPathogenic
GFM2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation deficiency 39
GPathogenic
GFM2
(S662T +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
GFM2
(I410K +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFM2
(M347T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GFM2
(R190Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
GFM2
(I15V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign/Likely benign
GFM2
(D576E +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
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