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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LIPE, LIPE-AS1
+1 more
(V1068fs)
Deletion
(frameshift variant)
LIPE-related familial partial lipodystrophy
GPathogenic/Likely pathogenic
LIPE, LIPE-AS1
+1 more
(E1035*)
Single nucleotide variant
(nonsense)
LIPE-related familial partial lipodystrophy
GPathogenic
LIPE, LIPE-AS1
+1 more
(S508fs)
Duplication
(frameshift variant)
LIPE-related familial partial lipodystrophy
GPathogenic
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