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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGPAT2
(P244L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AGPAT2
(T187fs +1 more)
Microsatellite
(frameshift variant)
not provided
+1 more
GLikely pathogenic
AGPAT2
(R159C)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
AGPAT2
(K120R)
Single nucleotide variant
(missense variant)
Congenital generalized lipodystrophy type 1
+3 more
GConflicting classifications of pathogenicity
AGPAT2
(R114C)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+1 more
GConflicting classifications of pathogenicity
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