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Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AMPD1
(M721V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AMPD1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
AMPD1
Single nucleotide variant
(intron variant)
not specified
GBenign
AMPD1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
AMPD1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
AMPD1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
AMPD1
Single nucleotide variant
(synonymous variant)
Muscle AMP deaminase deficiency
+1 more
GConflicting classifications of pathogenicity
AMPD1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
AMPD1
(G607E +2 more)
Single nucleotide variant
(missense variant)
Muscle AMP deaminase deficiency
+1 more
GConflicting classifications of pathogenicity
AMPD1
(S557T +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
AMPD1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
AMPD1
(M474V +1 more)
Single nucleotide variant
(missense variant)
Muscle AMP deaminase deficiency
+1 more
GUncertain significance
AMPD1
(R458H +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
AMPD1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
AMPD1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
AMPD1
Single nucleotide variant
(synonymous variant)
Muscle AMP deaminase deficiency
+1 more
GConflicting classifications of pathogenicity
AMPD1
(R421W +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
AMPD1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
AMPD1
(Q320R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
AMPD1
(M343I +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
AMPD1
(K320I +2 more)
Single nucleotide variant
(missense variant)
AMPD1-related condition
+4 more
GConflicting classifications of pathogenicity
AMPD1
(K261E +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AMPD1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AMPD1
(Q249H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AMPD1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AMPD1
(Y202C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AMPD1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
AMPD1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
AMPD1
(Q189H +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AMPD1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
AMPD1
Deletion
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
AMPD1
(V145M +2 more)
Single nucleotide variant
(missense variant)
AMPD1-related condition
+3 more
GConflicting classifications of pathogenicity
AMPD1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AMPD1
(I95T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AMPD1
(R108H +2 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
AMPD1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
AMPD1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AMPD1
(H47R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AMPD1
Single nucleotide variant
(synonymous variant)
Muscle AMP deaminase deficiency
+2 more
GConflicting classifications of pathogenicity
AMPD1
(P81L +1 more)
Single nucleotide variant
(missense variant)
Muscle AMP deaminase deficiency
+2 more
GConflicting classifications of pathogenicity; other
AMPD1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
AMPD1
Deletion
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AMPD1
(Q45*)
Single nucleotide variant
(nonsense +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity; other
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