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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGPAT2
(A239V +1 more)
Single nucleotide variant
(missense variant)
Congenital generalized lipodystrophy type 1
+2 more
GBenign/Likely benign
AGPAT2
(I94fs)
Deletion
(frameshift variant)
not provided
GPathogenic
AGPAT2
(R90H)
Single nucleotide variant
(missense variant)
Congenital generalized lipodystrophy type 1
+1 more
GConflicting classifications of pathogenicity
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