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Links from MedGen

Items: 48

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AFF2
(K1042R +4 more)
Single nucleotide variant
(missense variant)
FRAXE
GUncertain significance
AFF2
(P281T +1 more)
Single nucleotide variant
(missense variant)
FRAXE
GUncertain significance
AFF2
(K347E +5 more)
Single nucleotide variant
(missense variant)
FRAXE
GUncertain significance
AFF2
(P221S +5 more)
Single nucleotide variant
(missense variant)
FRAXE
GUncertain significance
AFF2
(T418I +5 more)
Single nucleotide variant
(missense variant)
FRAXE
GUncertain significance
AFF2
(T1015I +4 more)
Single nucleotide variant
(missense variant)
FRAXE
GUncertain significance
AFF2
(V220I +5 more)
Single nucleotide variant
(missense variant)
FRAXE
GUncertain significance
AFF2
(S392N +5 more)
Single nucleotide variant
(missense variant)
FRAXE
GUncertain significance
AFF2
(P134A +1 more)
Single nucleotide variant
(missense variant)
FRAXE
GUncertain significance
AFF2
(V1006A +4 more)
Single nucleotide variant
(missense variant)
FRAXE
GUncertain significance
AFF2
(A167S +1 more)
Single nucleotide variant
(missense variant)
FRAXE
GUncertain significance
AFF2
(D581E +5 more)
Single nucleotide variant
(missense variant)
FRAXE
GUncertain significance
AFF2
(L520F +5 more)
Single nucleotide variant
(missense variant)
FRAXE
GUncertain significance
AFF2
(P334T +1 more)
Single nucleotide variant
(missense variant)
FRAXE
GUncertain significance
AFF2
(S1016G +4 more)
Single nucleotide variant
(missense variant)
FRAXE
GUncertain significance
AFF2
Copy number loss
FRAXE
GPathogenic
AFF2
(S1016N +4 more)
Single nucleotide variant
(missense variant)
FRAXE
GUncertain significance
AFF2
Single nucleotide variant
(intron variant)
FRAXE
GUncertain significance
AFF2
(C603Y +5 more)
Single nucleotide variant
(missense variant)
FRAXE
GLikely pathogenic
AFF2
(R1122* +4 more)
Single nucleotide variant
(nonsense)
FRAXE
GLikely pathogenic
AFF2
(E513Q +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AFF2
Single nucleotide variant
(intron variant)
FRAXE
GBenign
AFF2
Single nucleotide variant
(intron variant)
FRAXE
GBenign
AFF2
(K15R)
Single nucleotide variant
(missense variant +1 more)
FRAXE
+1 more
GBenign
AFF2
(T994S +4 more)
Single nucleotide variant
(missense variant)
FRAXE
GUncertain significance
AFF2
(E450D +5 more)
Single nucleotide variant
(missense variant)
FRAXE
+1 more
GUncertain significance
AFF2
(S572N +5 more)
Single nucleotide variant
(missense variant)
FRAXE
+1 more
GUncertain significance
AFF2
(R494H +5 more)
Single nucleotide variant
(missense variant)
FRAXE
GUncertain significance
AFF2
(D1111Y +4 more)
Single nucleotide variant
(missense variant)
FRAXE
GPathogenic
AFF2
Single nucleotide variant
(intron variant)
FRAXE
GUncertain significance
AFF2
(H573D +5 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
SERPINA1
(E366K +1 more)
Single nucleotide variant
(missense variant)
Alpha-1-antitrypsin deficiency
GPathogenic
AFF2
Copy number loss
FRAXE
GPathogenic
AFF2
(R670H +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AFF2
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GUncertain significance
AFF2
(T1013M +4 more)
Single nucleotide variant
(missense variant)
FRAXE
+1 more
GUncertain significance
AFF2
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AFF2
(L614F +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AFF2
Single nucleotide variant
(3 prime UTR variant)
FRAXE
GUncertain significance
AFF2
(R927H +5 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GLikely benign
AFF2
(P886A +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
AFF2
(L610F +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AFF2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
AFF2
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
AFF2
(I1030L +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AFF2
Deletion
FRAXE
GPathogenic
SERPINA1
(E366K)
Single nucleotide variant
(missense variant)
SERPINA1-related condition
+7 more
GPathogenic; risk factor
AFF2, FRAXE
Microsatellite
FRAXE
GPathogenic
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