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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LIPE, LIPE-AS1
+1 more
(V1014M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LIPE, LIPE-AS1
+1 more
(R718*)
Single nucleotide variant
(nonsense)
LIPE-related familial partial lipodystrophy
GLikely pathogenic
LIPE, LIPE-AS1
(R305C)
Single nucleotide variant
(missense variant)
LIPE-related familial partial lipodystrophy
GUncertain significance
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