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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGRN
(A375S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
AGRN
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 8
+1 more
GConflicting classifications of pathogenicity
AGRN
(Q747H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
AGRN
(T769M +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
+1 more
GUncertain significance
AGRN
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 8
+2 more
GBenign/Likely benign
AGRN
(G1341R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AGRN
Deletion
(inframe_deletion)
not provided
+1 more
GConflicting classifications of pathogenicity
AGRN
(F1623L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
AGRN
(H2025R +2 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
+4 more
GBenign/Likely benign
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