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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGPAT2
Single nucleotide variant
(intron variant +1 more)
Congenital generalized lipodystrophy type 1
GPathogenic/Likely pathogenic
AGPAT2
(S100N)
Single nucleotide variant
(missense variant)
Congenital generalized lipodystrophy type 1
GPathogenic