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Links from MedGen

Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGF12
(D28V +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 47
+1 more
GUncertain significance
FGF12
(G114E +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 47
GLikely pathogenic
FGF12
(P110S +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 47
GUncertain significance
FGF12
(E42K)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 47
+1 more
GUncertain significance
FGF12
(D102H +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 47
GUncertain significance
FGF12
(S127N +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 47
GUncertain significance
FGF12
(V111L +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 47
GUncertain significance
FGF12
(K13E)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 47
GUncertain significance
FGF12
Duplication
(intron variant)
Developmental and epileptic encephalopathy, 47
+1 more
GBenign/Likely benign
FGF12
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
FGF12
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 47
+1 more
GBenign
FGF12
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 47
+1 more
GBenign
FGF12
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 47
GUncertain significance
FGF12
(T92A +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
FGF12
(G112S +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 47
+1 more
GPathogenic/Likely pathogenic
FGF12
(R114H +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 47
+2 more
GPathogenic
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