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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGL
(Q6*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
AGL
(Q6fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
AGL
(R408* +3 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease IIIa
+2 more
GPathogenic
AGL
(W680* +4 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
AGL
(R864* +4 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
AGL
(R1228* +6 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
AGL
(V1306fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
AGL
Single nucleotide variant
(intron variant)
not provided
+2 more
GPathogenic/Likely pathogenic
AGL
(S1470fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
AGL
(Y1510* +1 more)
Duplication
(nonsense +1 more)
Glycogen storage disease IIIa
+2 more
GPathogenic/Likely pathogenic
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