U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLIN1
(E427G)
Single nucleotide variant
(missense variant)
PLIN1-related familial partial lipodystrophy
GUncertain significance
PLIN1
(V402fs)
Duplication
(frameshift variant)
PLIN1-related familial partial lipodystrophy
GPathogenic
LOC130057886, PLIN1
(P439fs)
Deletion
(frameshift variant)
PLIN1-related familial partial lipodystrophy
GPathogenic
PLIN1
(R231*)
Single nucleotide variant
(nonsense)
PLIN1-related familial partial lipodystrophy
GLikely pathogenic
PLIN1
Single nucleotide variant
(intron variant)
PLIN1-related familial partial lipodystrophy
+1 more
GBenign
PLIN1
(L90P)
Single nucleotide variant
(missense variant)
PLIN1-related familial partial lipodystrophy
GUncertain significance
PLIN1
(T345A)
Single nucleotide variant
(missense variant)
PLIN1-related familial partial lipodystrophy
GUncertain significance
PLIN1
Deletion
(splice acceptor variant)
PLIN1-related familial partial lipodystrophy
GPathogenic
LOC125146351, PLIN1
(P75L)
Single nucleotide variant
(missense variant)
PLIN1-related familial partial lipodystrophy
+1 more
GUncertain significance
PLIN1
(T301M)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+2 more
GConflicting classifications of pathogenicity
PLIN1
(P194A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
PLIN1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
PLIN1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
PLIN1
(V398fs)
Deletion
(frameshift variant)
PLIN1-related familial partial lipodystrophy
GPathogenic
PLIN1
Single nucleotide variant
(splice acceptor variant)
PLIN1-related familial partial lipodystrophy
GPathogenic
Format
Items per page
Sort by
Choose Destination