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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LIPE, LIPE-AS1
+1 more
(R274C +8 more)
Single nucleotide variant
(missense variant)
LIPE-related familial partial lipodystrophy
+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
LIPE, LIPE-AS1
(S184*)
Single nucleotide variant
(nonsense)
LIPE-related familial partial lipodystrophy
+1 more
GConflicting classifications of pathogenicity
LIPE-AS1, LOC101930071
+1 more
(E1035*)
Single nucleotide variant
(nonsense)
LIPE-related familial partial lipodystrophy
GPathogenic
LIPE, LIPE-AS1
+1 more
(V1014M)
Single nucleotide variant
(missense variant)
LIPE-related familial partial lipodystrophy
+1 more
GUncertain significance
LIPE, LIPE-AS1
+1 more
(S508fs)
Duplication
(frameshift variant)
LIPE-related familial partial lipodystrophy
GPathogenic
LIPE, LIPE-AS1
+1 more
(V1068fs)
Deletion
(frameshift variant)
LIPE-related familial partial lipodystrophy
GPathogenic/Likely pathogenic
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