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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A2ML1, A2ML1-AS1
(K59fs)
Duplication
(frameshift variant)
not specified
+1 more
GConflicting classifications of pathogenicity
A2ML1, A2ML1-AS1
(I105V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
A2ML1
(P217L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
A2ML1
(Y265fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
A2ML1
(N437D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
A2ML1
(R443*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
A2ML1
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
A2ML1
(I3T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
A2ML1
(P159R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
A2ML1
(S386fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
A2ML1
(A1025V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
A2ML1
(S1237F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
A2ML1
(N832H +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
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